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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BCL2_chr18_63118346_63324769 | 63285692 | T | TCTC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(237): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(69): Show | a0001c0001t0001g0102a0001c0001t0001g0103a0001c0001t0001g0104others(237): Show | 240 | 264 | 0.9091 | 3 | c.585 others(22): Show |
BCL2 | ENSG00000171791.14 | transcript | ENST00000333681.5 | protein_coding | 2/2 | chr18 | TogoVar | ||||||
BCL2_chr18_63118346_63324769 | 63324508 | A | AAAT | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01123.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0127a0001c0001t0003g0244a0001c0001t0005g0161others(11): Show | 14 | 264 | 0.0530 | 3 | c.-56 others(14): Show |
BCL2 | ENSG00000171791.14 | transcript | ENST00000333681.5 | protein_coding | 4740 | chr18 | TogoVar | ||||||
BCL3_chr19_44743708_44765044 | 44744435 | A | ATAT | upstream_gene_variant | MODIFIER | HG01168.hp1 HG02040.hp1 HG02056.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(9): Show | 15 | 344 | 0.0436 | 3 | c.-43 others(14): Show |
BCL3 | ENSG00000069399.15 | transcript | ENST00000164227.10 | protein_coding | 4272 | chr19 | TogoVar | ||||||
BCL3_chr19_44743708_44765044 | 44744472 | T | TATA | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00735.hp2 HG02071.hp1 others(2): Show |
a0001a0005 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0004t0006a0001c0005t0003others(1): Show | a0001c0001t0001g0009a0001c0001t0001g0137a0001c0004t0006g0106others(2): Show | 5 | 344 | 0.0145 | 3 | c.-43 others(14): Show |
BCL3 | ENSG00000069399.15 | transcript | ENST00000164227.10 | protein_coding | 4235 | chr19 | TogoVar | ||||||
BCL3_chr19_44743708_44765044 | 44761253 | C | CTTT | downstream_gene_variant | MODIFIER | HG02486.hp2 HG03017.hp2 HG03486.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008 | a0001c0001t0001g0163a0001c0001t0003g0018a0001c0001t0003g0043others(3): Show | 8 | 344 | 0.0233 | 3 | c.*16 others(14): Show |
BCL3 | ENSG00000069399.15 | transcript | ENST00000164227.10 | protein_coding | 1210 | chr19 | TogoVar | ||||||
BCL3_chr19_44743708_44765044 | 44764194 | G | GAGA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(218): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0005a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(128): Show | 221 | 344 | 0.6424 | 3 | c.*45 others(14): Show |
BCL3 | ENSG00000069399.15 | transcript | ENST00000164227.10 | protein_coding | 4151 | chr19 | TogoVar | ||||||
BCL6B_chr17_7018050_7034644 | 7024700 | C | CCAG | disruptive_inframe_insertion | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(220): Show |
a0001 | a0001c0001a0001c0007a0001c0008others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0010others(29): Show | 223 | 356 | 0.6264 | 3 | c.729 others(10): Show |
p.Ser others(6): Show |
BCL6B | ENSG00000161940.11 | transcript | ENST00000293805.10 | protein_coding | 4/9 | 794/3527 | 732/1440 | 244/479 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |
BCL6B_chr17_7018050_7034644 | 7025836 | C | CAAA | intron_variant | MODIFIER | HG00544.hp2 HG01123.hp1 HG01981.hp2 others(11): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0005 | 14 | 356 | 0.0393 | 3 | c.890 others(18): Show |
BCL6B | ENSG00000161940.11 | transcript | ENST00000293805.10 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCL6B_chr17_7018050_7034644 | 7032843 | T | TTTC | downstream_gene_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG00673.hp1 others(43): Show |
a0002a0006 | a0002c0002a0006c0015 | a0002c0002t0002a0002c0002t0012a0002c0002t0018others(1): Show | a0002c0002t0002g0003a0002c0002t0002g0005a0002c0002t0002g0015others(5): Show | 46 | 356 | 0.1292 | 3 | c.*52 others(14): Show |
BCL6B | ENSG00000161940.11 | transcript | ENST00000293805.10 | protein_coding | 3200 | chr17 | TogoVar | ||||||
BCL6_chr3_187716381_187750468 | 187737752 | C | CTTT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(132): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0002a0001c0001t0001g0017a0001c0001t0001g0044others(118): Show | 135 | 404 | 0.3342 | 3 | c.-49 others(20): Show |
BCL6 | ENSG00000113916.18 | transcript | ENST00000406870.7 | protein_coding | 1/9 | chr3 | TogoVar | ||||||
BCL7A_chr12_122016884_122067044 | 122031016 | G | GTCT | intron_variant | MODIFIER | HG02258.hp2 HG02300.hp1 HG02922.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0039a0001c0002t0003a0001c0002t0055 | a0001c0001t0039g0092a0001c0002t0003g0285a0001c0002t0055g0265 | 3 | 362 | 0.0083 | 3 | c.174 others(18): Show |
BCL7A | ENSG00000110987.9 | transcript | ENST00000261822.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BCL7A_chr12_122016884_122067044 | 122031354 | G | GCCC | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG01167.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0091a0001c0001t0096others(10): Show | a0001c0001t0004g0228a0001c0001t0004g0233a0001c0001t0091g0245others(13): Show | 16 | 362 | 0.0442 | 3 | c.174 others(18): Show |
BCL7A | ENSG00000110987.9 | transcript | ENST00000261822.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BCL7A_chr12_122016884_122067044 | 122038431 | C | CAAA | intron_variant | MODIFIER | HG00423.hp2 HG01255.hp2 HG02027.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0038a0001c0001t0070others(14): Show | a0001c0001t0001g0088a0001c0001t0001g0093a0001c0001t0001g0103others(21): Show | 24 | 362 | 0.0663 | 3 | c.271 others(20): Show |
BCL7A | ENSG00000110987.9 | transcript | ENST00000261822.5 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BCL7A_chr12_122016884_122067044 | 122046060 | T | TAAA | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00544.hp1 others(91): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0001a0001c0001t0001g0021a0001c0001t0001g0028others(90): Show | 94 | 362 | 0.2597 | 3 | c.439 others(20): Show |
BCL7A | ENSG00000110987.9 | transcript | ENST00000261822.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BCL7B_chr7_73531356_73562690 | 73540829 | C | CAAA | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00621.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0027a0001c0001t0001g0045others(16): Show | 21 | 284 | 0.0739 | 3 | c.266 others(18): Show |
BCL7B | ENSG00000106635.8 | transcript | ENST00000223368.7 | protein_coding | 3/5 | chr7 | TogoVar | ||||||
BCL7B_chr7_73531356_73562690 | 73561529 | A | AAAT | upstream_gene_variant | MODIFIER | HG00438.hp2 HG01891.hp2 HG02451.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0055a0001c0001t0001g0056others(8): Show | 12 | 284 | 0.0423 | 3 | c.-39 others(14): Show |
BCL7B | ENSG00000106635.8 | transcript | ENST00000223368.7 | protein_coding | 3840 | chr7 | TogoVar | ||||||
BCL7C_chr16_30882795_30899077 | 30891168 | C | CAAA | intron_variant | MODIFIER | HG01192.hp2 HG01255.hp2 HG03654.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020a0001c0001t0001g0038a0001c0001t0001g0064others(1): Show | 6 | 324 | 0.0185 | 3 | c.442 others(20): Show |
BCL7C | ENSG00000099385.12 | transcript | ENST00000215115.5 | protein_coding | 4/5 | chr16 | TogoVar | ||||||
BCL9L_chr11_118891136_118930926 | 118925584 | C | CTTG | 5_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00738.hp1 HG01070.hp1 others(21): Show |
a0001a0012a0013 | a0001c0001a0012c0025a0013c0026 | a0001c0001t0008a0001c0001t0010a0001c0001t0014others(3): Show | a0001c0001t0008g0012a0001c0001t0008g0013a0001c0001t0008g0102others(14): Show | 24 | 250 | 0.0960 | 3 | c.-47 others(12): Show |
BCL9L | ENSG00000186174.13 | transcript | ENST00000683865.1 | protein_coding | 1/10 | 15646 | chr11 | TogoVar | |||||
BCL9_chr1_147536501_147631216 | 147539605 | G | GTTA | upstream_gene_variant | MODIFIER | NA18977.hp2 NA18997.hp1 NA19070.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0013a0002c0002t0002 | a0001c0001t0013g0167a0001c0001t0013g0168a0001c0001t0013g0169others(1): Show | 4 | 316 | 0.0127 | 3 | c.-25 others(14): Show |
BCL9 | ENSG00000116128.12 | transcript | ENST00000234739.8 | protein_coding | 1895 | chr1 | TogoVar | ||||||
BCL9_chr1_147536501_147631216 | 147548979 | C | CTTT | intron_variant | MODIFIER | HG00323.hp1 HG00609.hp1 HG00609.hp2 others(89): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0007a0001c0010others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0048a0001c0001t0001g0049a0001c0001t0001g0050others(82): Show | 92 | 316 | 0.2911 | 3 | c.-47 others(22): Show |
BCL9 | ENSG00000116128.12 | transcript | ENST00000234739.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BCL9_chr1_147536501_147631216 | 147569473 | C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00438.hp2 others(93): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0015a0001c0001t0002g0019a0001c0001t0002g0030others(87): Show | 96 | 316 | 0.3038 | 3 | c.-47 others(24): Show |
BCL9 | ENSG00000116128.12 | transcript | ENST00000234739.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BCL9_chr1_147536501_147631216 | 147570632 | T | TTTC | intron_variant | MODIFIER | HG00140.hp1 HG00673.hp2 HG01071.hp2 others(85): Show |
a0001a0002a0003 | a0001c0001a0001c0007a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(20): Show | a0001c0001t0001g0015a0001c0001t0001g0040a0001c0001t0001g0048others(81): Show | 88 | 316 | 0.2785 | 3 | c.-47 others(24): Show |
BCL9 | ENSG00000116128.12 | transcript | ENST00000234739.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BCL9_chr1_147536501_147631216 | 147572083 | C | CAAA | intron_variant | MODIFIER | HG01074.hp2 HG01081.hp2 HG01175.hp2 others(66): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0007a0002c0002others(2): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(18): Show | a0001c0001t0002g0206a0001c0001t0002g0221a0001c0001t0002g0232others(62): Show | 69 | 316 | 0.2184 | 3 | c.-47 others(24): Show |
BCL9 | ENSG00000116128.12 | transcript | ENST00000234739.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BCL9_chr1_147536501_147631216 | 147608330 | C | CTTT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(158): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0010a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0007a0001c0001t0001g0015a0001c0001t0001g0037others(143): Show | 161 | 316 | 0.5095 | 3 | c.-26 others(22): Show |
BCL9 | ENSG00000116128.12 | transcript | ENST00000234739.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BCLAF3_chrX_19907860_19996061 | 19908162 | A | ACCC | downstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0075 | 1 | 207 | 0.0048 | 3 | c.*91 others(14): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 4697 | chrX | TogoVar | ||||||
BCLAF3_chrX_19907860_19996061 | 19908362 | A | AAAG | downstream_gene_variant | MODIFIER | HG01081.hp1 HG01361.hp1 HG02258.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0013a0001c0001t0037others(2): Show | a0001c0001t0004g0002a0001c0001t0004g0052a0001c0001t0004g0053others(5): Show | 9 | 207 | 0.0435 | 3 | c.*89 others(14): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 4497 | chrX | TogoVar | ||||||
BCLAF3_chrX_19907860_19996061 | 19910730 | C | CAAA | downstream_gene_variant | MODIFIER | HG01346.hp1 HG01981.hp1 HG02572.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0002c0002t0029 | a0001c0001t0002g0001a0001c0001t0002g0036a0001c0001t0003g0082others(1): Show | 4 | 207 | 0.0193 | 3 | c.*65 others(14): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 2129 | chrX | TogoVar | ||||||
BCLAF3_chrX_19907860_19996061 | 19932525 | A | ATTT | intron_variant | MODIFIER | HG02630.hp1 HG02922.hp2 HG03195.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0018a0001c0001t0040 | a0001c0001t0005g0066a0001c0001t0005g0067a0001c0001t0005g0068others(2): Show | 5 | 207 | 0.0242 | 3 | c.195 others(22): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 10/11 | chrX | TogoVar | ||||||
BCLAF3_chrX_19907860_19996061 | 19984072 | C | CAAA | intron_variant | MODIFIER | HG01243.hp1 HG01981.hp1 HG02055.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0009others(5): Show | a0001c0001t0002g0024a0001c0001t0002g0028a0001c0001t0002g0030others(12): Show | 15 | 207 | 0.0725 | 3 | c.-35 others(20): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 1/11 | chrX | TogoVar | ||||||
BCLAF3_chrX_19907860_19996061 | 19990922 | C | CCCG | 5_prime_UTR_variant | MODIFIER | HG01070.hp1 HG02293.hp2 HG02451.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0008a0001c0001t0022a0001c0001t0033others(2): Show | a0001c0001t0008g0018a0001c0001t0008g0019a0001c0001t0008g0020others(6): Show | 9 | 207 | 0.0435 | 3 | c.-52 others(10): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 1/12 | 20659 | chrX | TogoVar | |||||
BCLAF3_chrX_19907860_19996061 | 19995618 | A | AAAG | upstream_gene_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 207 | 0.0048 | 3 | c.-47 others(14): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 4558 | chrX | TogoVar | ||||||
BCLAF3_chrX_19907860_19996061 | 19995654 | A | AAAG | upstream_gene_variant | MODIFIER | HG01891.hp1 HG01981.hp1 HG02615.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0012others(3): Show | a0001c0001t0002g0036a0001c0001t0003g0077a0001c0001t0003g0080others(6): Show | 9 | 207 | 0.0435 | 3 | c.-47 others(14): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 4594 | chrX | TogoVar | ||||||
BCLAF3_chrX_19907860_19996061 | 19995662 | A | AAAG | upstream_gene_variant | MODIFIER | HG00673.hp1 NA18974.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0047 | a0001c0001t0001g0181a0001c0001t0047g0089 | 2 | 207 | 0.0097 | 3 | c.-47 others(14): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 4602 | chrX | TogoVar | ||||||
BCLAF3_chrX_19907860_19996061 | 19995662 | A | AAGG | upstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0075 | 1 | 207 | 0.0048 | 3 | c.-47 others(14): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 4602 | chrX | TogoVar | ||||||
BCLAF3_chrX_19907860_19996061 | 19995664 | A | AGAG | upstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 207 | 0.0048 | 3 | c.-47 others(14): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 4604 | chrX | TogoVar | ||||||
BCLAF3_chrX_19907860_19996061 | 19995668 | G | GAAA | upstream_gene_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 207 | 0.0048 | 3 | c.-47 others(14): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 4608 | chrX | TogoVar | ||||||
BCO1_chr16_81233689_81296142 | 81244717 | C | CTTT | intron_variant | MODIFIER | HG00733.hp1 HG01074.hp2 HG01168.hp1 others(11): Show |
a0001a0002a0012 | a0001c0002a0001c0005a0002c0004others(1): Show | a0001c0002t0001a0001c0005t0001a0002c0004t0001others(1): Show | a0001c0002t0001g0014a0001c0002t0001g0045a0001c0002t0001g0100others(11): Show | 14 | 402 | 0.0348 | 3 | c.65- others(16): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BCO1_chr16_81233689_81296142 | 81246850 | C | CAAA | intron_variant | MODIFIER | HG00099.hp2 HG00597.hp1 HG00639.hp2 others(54): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0005a0001c0017others(4): Show | a0001c0002t0001a0001c0005t0001a0001c0017t0001others(4): Show | a0001c0002t0001g0003a0001c0002t0001g0056a0001c0002t0001g0123others(52): Show | 57 | 402 | 0.1418 | 3 | c.193 others(20): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BCO1_chr16_81233689_81296142 | 81248405 | C | CAAA | intron_variant | MODIFIER | HG01243.hp1 HG01361.hp1 HG01952.hp1 others(17): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0005a0002c0004others(3): Show | a0001c0002t0001a0001c0005t0001a0002c0004t0001others(3): Show | a0001c0002t0001g0056a0001c0002t0001g0067a0001c0002t0001g0068others(17): Show | 20 | 402 | 0.0498 | 3 | c.193 others(20): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BCO1_chr16_81233689_81296142 | 81249092 | C | CTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(131): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0005others(9): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(10): Show | a0001c0001t0001g0255a0001c0002t0001g0003a0001c0002t0001g0036others(129): Show | 134 | 402 | 0.3333 | 3 | c.193 others(20): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BCO1_chr16_81233689_81296142 | 81269065 | C | CTTT | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG00733.hp1 others(25): Show |
a0001a0002a0010 | a0001c0005a0001c0017a0002c0006others(1): Show | a0001c0005t0001a0001c0017t0001a0002c0006t0001others(1): Show | a0001c0005t0001g0020a0001c0005t0001g0021a0001c0005t0001g0022others(25): Show | 28 | 402 | 0.0697 | 3 | c.843 others(18): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BCO1_chr16_81233689_81296142 | 81273639 | C | CTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(47): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0184a0001c0001t0001g0203others(44): Show | 50 | 402 | 0.1244 | 3 | c.110 others(22): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BCO1_chr16_81233689_81296142 | 81295391 | C | CAAA | downstream_gene_variant | MODIFIER | HG03704.hp1 NA18946.hp2 NA18948.hp2 others(6): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0003 | a0001c0001t0001a0001c0002t0001a0003c0003t0001 | a0001c0001t0001g0182a0001c0001t0001g0191a0001c0001t0001g0205others(6): Show | 9 | 402 | 0.0224 | 3 | c.*48 others(14): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 4250 | chr16 | TogoVar | ||||||
BCO2_chr11_112170512_112223946 | 112176517 | C | CGGG | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00597.hp1 others(80): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0007a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(74): Show | 83 | 380 | 0.2184 | 3 | c.88+ others(16): Show |
BCO2 | ENSG00000197580.13 | transcript | ENST00000357685.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BCO2_chr11_112170512_112223946 | 112188757 | C | CTTT | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG00741.hp1 others(69): Show |
a0001a0002a0011others(1): Show | a0001c0001a0001c0007a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0008a0001c0007t0001others(3): Show | a0001c0001t0001g0015a0001c0001t0001g0040a0001c0001t0001g0061others(66): Show | 72 | 380 | 0.1895 | 3 | c.294 others(20): Show |
BCO2 | ENSG00000197580.13 | transcript | ENST00000357685.11 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BCORL1_chrX_129977635_130063071 | 129979993 | C | CCCA | upstream_gene_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0203 | 1 | 203 | 0.0049 | 3 | c.-28 others(14): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 2641 | chrX | TogoVar | ||||||
BCORL1_chrX_129977635_130063071 | 129981925 | T | TGGG | upstream_gene_variant | MODIFIER | HG02135.hp1 NA18974.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0025a0001c0001t0016g0203 | 2 | 203 | 0.0099 | 3 | c.-88 others(12): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 709 | chrX | TogoVar | ||||||
BCORL1_chrX_129977635_130063071 | 129983436 | G | GGGC | intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0203 | 1 | 203 | 0.0049 | 3 | c.-45 others(18): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BCORL1_chrX_129977635_130063071 | 129984223 | T | TGCC | intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0203 | 1 | 203 | 0.0049 | 3 | c.-45 others(20): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BCORL1_chrX_129977635_130063071 | 129989302 | A | ATTT | intron_variant | MODIFIER | HG02886.hp1 NA18522.hp1 NA20300.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0006 | a0001c0001t0001g0006a0001c0001t0001g0194a0001c0005t0006g0196 | 3 | 203 | 0.0148 | 3 | c.-45 others(20): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chrX | TogoVar |