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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BCORL1_chrX_129977635_130063071 | 130011002 | TAA | T | intron_variant | MODIFIER | HG00609.hp1 HG01074.hp1 HG01256.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0015a0001c0001t0001g0017a0001c0001t0001g0087others(2): Show | 5 | 203 | 0.0246 | -2 | c.87- others(17): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BCORL1_chrX_129977635_130063071 | 130011040 | GAA | G | intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 203 | 0.0049 | -2 | c.87- others(17): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BCORL1_chrX_129977635_130063071 | 130035510 | CAG | C | intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 203 | 0.0049 | -2 | c.452 others(19): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BCORL1_chrX_129977635_130063071 | 130041303 | GAC | G | intron_variant | MODIFIER | HG02257.hp1 HG02572.hp1 HG03209.hp1 |
a0001a0009 | a0001c0002a0001c0006a0009c0021 | a0001c0002t0006a0001c0006t0002a0009c0021t0002 | a0001c0002t0006g0031a0001c0006t0002g0119a0009c0021t0002g0007 | 3 | 203 | 0.0148 | -2 | c.484 others(21): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BCORL1_chrX_129977635_130063071 | 130061147 | TTG | T | downstream_gene_variant | MODIFIER | NA18985.hp1 | a0007 | a0007c0012 | a0007c0012t0011 | a0007c0012t0011g0043 | 1 | 203 | 0.0049 | -2 | c.*50 others(13): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 3077 | chrX | TogoVar | ||||||
BCORL1_chrX_129977635_130063071 | 130062502 | TTC | T | downstream_gene_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 203 | 0.0049 | -2 | c.*63 others(13): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 4432 | chrX | TogoVar | ||||||
BCOR_chrX_40046251_40102958 | 40046531 | TAA | T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01884.hp1 others(15): Show |
a0001a0005a0007others(1): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(6): Show | a0001c0001t0001g0058a0001c0001t0001g0075a0001c0001t0001g0124others(15): Show | 18 | 257 | 0.0700 | -2 | c.*55 others(13): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 4719 | chrX | TogoVar | ||||||
BCOR_chrX_40046251_40102958 | 40046550 | GTA | G | downstream_gene_variant | MODIFIER | HG00741.hp2 HG01070.hp1 NA18953.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0234a0001c0002t0001g0187a0001c0002t0001g0232 | 3 | 257 | 0.0117 | -2 | c.*55 others(13): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 4700 | chrX | TogoVar | ||||||
BCOR_chrX_40046251_40102958 | 40046574 | ATG | A | downstream_gene_variant | MODIFIER | HG02723.hp1 HG03098.hp1 HG03486.hp1 |
a0001a0007 | a0001c0001a0007c0012 | a0001c0001t0002a0001c0001t0010a0007c0012t0002 | a0001c0001t0002g0038a0001c0001t0010g0048a0007c0012t0002g0041 | 3 | 257 | 0.0117 | -2 | c.*55 others(13): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 4676 | chrX | TogoVar | ||||||
BCOR_chrX_40046251_40102958 | 40046576 | GTA | G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG01943.hp1 HG02056.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(1): Show | a0001c0001t0001g0074a0001c0001t0001g0104a0001c0001t0001g0119others(6): Show | 9 | 257 | 0.0350 | -2 | c.*55 others(13): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 4674 | chrX | TogoVar | ||||||
BCOR_chrX_40046251_40102958 | 40046598 | ATG | A | downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 257 | 0.0039 | -2 | c.*55 others(13): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 4652 | chrX | TogoVar | ||||||
BCOR_chrX_40046251_40102958 | 40046600 | GTA | G | downstream_gene_variant | MODIFIER | HG00621.hp1 HG01243.hp1 HG02109.hp2 others(10): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0116a0001c0001t0001g0122a0001c0001t0001g0124others(10): Show | 13 | 257 | 0.0506 | -2 | c.*55 others(13): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 4650 | chrX | TogoVar | ||||||
BCOR_chrX_40046251_40102958 | 40046760 | CCT | C | downstream_gene_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 257 | 0.0039 | -2 | c.*53 others(13): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 4490 | chrX | TogoVar | ||||||
BCOR_chrX_40046251_40102958 | 40052580 | TTG | T | intron_variant | MODIFIER | HG01515.hp1 HG02055.hp1 HG02622.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0059a0001c0001t0001g0089a0001c0001t0001g0128others(5): Show | 8 | 257 | 0.0311 | -2 | c.497 others(19): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 14/14 | chrX | TogoVar | ||||||
BCOR_chrX_40046251_40102958 | 40054499 | CTT | C | intron_variant | MODIFIER | HG02895.hp1 NA19056.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052a0001c0001t0001g0131 | 2 | 257 | 0.0078 | -2 | c.474 others(19): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 12/14 | chrX | TogoVar | ||||||
BCOR_chrX_40046251_40102958 | 40056281 | TAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00735.hp2 HG01070.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0117a0001c0001t0002g0038a0001c0001t0002g0042others(12): Show | 19 | 257 | 0.0739 | -2 | c.459 others(19): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 11/14 | chrX | TogoVar | ||||||
BCOR_chrX_40046251_40102958 | 40060726 | CTT | C | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0144 | 1 | 257 | 0.0039 | -2 | c.442 others(21): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 10/14 | chrX | TogoVar | ||||||
BCOR_chrX_40046251_40102958 | 40061583 | GGA | G | intron_variant | MODIFIER | NA18989.hp1 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0097 | 1 | 257 | 0.0039 | -2 | c.442 others(19): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 10/14 | chrX | TogoVar | ||||||
BCOR_chrX_40046251_40102958 | 40061987 | TGG | T | intron_variant | MODIFIER | NA18989.hp1 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0097 | 1 | 257 | 0.0039 | -2 | c.442 others(19): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 10/14 | chrX | TogoVar | ||||||
BCOR_chrX_40046251_40102958 | 40066921 | ACC | A | intron_variant | MODIFIER | HG00099.hp1 HG00735.hp1 HG01884.hp1 others(11): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0002g0015a0001c0001t0002g0016a0001c0001t0002g0017others(11): Show | 14 | 257 | 0.0545 | -2 | c.323 others(21): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 6/14 | chrX | TogoVar | ||||||
BCOR_chrX_40046251_40102958 | 40080815 | CGT | C | intron_variant | MODIFIER | HG01070.hp1 HG03225.hp1 NA19087.hp1 |
a0001a0005 | a0001c0002a0001c0006a0005c0009 | a0001c0002t0001a0001c0006t0002a0005c0009t0001 | a0001c0002t0001g0187a0001c0006t0002g0027a0005c0009t0001g0186 | 3 | 257 | 0.0117 | -2 | c.-40 others(19): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 1/14 | chrX | TogoVar | ||||||
BCOR_chrX_40046251_40102958 | 40080989 | GCA | G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG01358.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0179a0001c0002t0001g0180a0001c0002t0001g0182others(1): Show | 4 | 257 | 0.0156 | -2 | c.-40 others(19): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 1/14 | chrX | TogoVar | ||||||
BCOR_chrX_40046251_40102958 | 40084711 | CCA | C | intron_variant | MODIFIER | HG02109.hp1 HG02622.hp1 HG02647.hp1 |
a0001 | a0001c0006 | a0001c0006t0001a0001c0006t0003 | a0001c0006t0001g0145a0001c0006t0001g0147a0001c0006t0003g0146 | 3 | 257 | 0.0117 | -2 | c.-40 others(19): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 1/14 | chrX | TogoVar | ||||||
BCOR_chrX_40046251_40102958 | 40088804 | CCT | C | intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 257 | 0.0039 | -2 | c.-41 others(19): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 1/14 | chrX | TogoVar | ||||||
BCOR_chrX_40046251_40102958 | 40102365 | AGG | A | upstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 257 | 0.0039 | -2 | c.-51 others(13): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 4408 | chrX | TogoVar | ||||||
BCOR_chrX_40046251_40102958 | 40102547 | CAT | C | upstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0145 | 1 | 257 | 0.0039 | -2 | c.-53 others(13): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 4590 | chrX | TogoVar | ||||||
BCR_chr22_23175509_23323037 | 23177501 | GGA | G | upstream_gene_variant | MODIFIER | HG03098.hp2 HG03139.hp1 HG03209.hp1 others(2): Show |
a0001a0002 | a0001c0018a0001c0033a0001c0037others(1): Show | a0001c0018t0044a0001c0018t0048a0001c0033t0047others(2): Show | a0001c0018t0044g0266a0001c0018t0048g0268a0001c0033t0047g0269others(2): Show | 5 | 296 | 0.0169 | -2 | c.-34 others(13): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 3007 | chr22 | TogoVar | ||||||
BCR_chr22_23175509_23323037 | 23180590 | GCA | G | 5_prime_UTR_variant | MODIFIER | HG01261.hp2 HG01516.hp1 HG01517.hp2 others(19): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0049a0001c0002t0045a0001c0004t0015others(16): Show | a0001c0001t0049g0271a0001c0002t0045g0270a0001c0004t0015g0074others(18): Show | 22 | 296 | 0.0743 | -2 | c.-36 others(11): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 1/23 | 368 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||
BCR_chr22_23175509_23323037 | 23185713 | TTC | T | intron_variant | MODIFIER | HG02257.hp2 HG02630.hp1 HG02723.hp1 others(2): Show |
a0001 | a0001c0004a0001c0005a0001c0009others(1): Show | a0001c0004t0109a0001c0005t0026a0001c0005t0107others(2): Show | a0001c0004t0109g0273a0001c0005t0026g0278a0001c0005t0107g0274others(2): Show | 5 | 296 | 0.0169 | -2 | c.127 others(21): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCR_chr22_23175509_23323037 | 23187278 | CTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00558.hp1 others(88): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0004a0001c0005others(12): Show | a0001c0002t0024a0001c0002t0108a0001c0002t0117others(70): Show | a0001c0002t0024g0204a0001c0002t0108g0290a0001c0002t0117g0291others(87): Show | 91 | 296 | 0.3074 | -2 | c.127 others(21): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCR_chr22_23175509_23323037 | 23192244 | ACT | A | intron_variant | MODIFIER | HG02280.hp2 HG02486.hp1 HG02647.hp2 others(5): Show |
a0001 | a0001c0004a0001c0005a0001c0012 | a0001c0004t0121a0001c0005t0105a0001c0005t0106others(3): Show | a0001c0004t0121g0094a0001c0005t0105g0092a0001c0005t0106g0095others(5): Show | 8 | 296 | 0.0270 | -2 | c.127 others(23): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCR_chr22_23175509_23323037 | 23197712 | GGA | G | intron_variant | MODIFIER | HG02257.hp2 HG02258.hp1 HG02630.hp1 others(12): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0049a0001c0002t0045a0001c0004t0109others(12): Show | a0001c0001t0049g0271a0001c0002t0045g0270a0001c0004t0109g0273others(12): Show | 15 | 296 | 0.0507 | -2 | c.127 others(23): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCR_chr22_23175509_23323037 | 23202747 | GTA | G | intron_variant | MODIFIER | HG00438.hp2 HG01109.hp2 HG01167.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0009a0001c0002t0020a0001c0002t0069others(5): Show | a0001c0001t0009g0109a0001c0002t0020g0133a0001c0002t0020g0140others(9): Show | 12 | 296 | 0.0405 | -2 | c.127 others(23): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCR_chr22_23175509_23323037 | 23238912 | CTG | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(150): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(24): Show | a0001c0001t0004a0001c0001t0011a0001c0001t0013others(119): Show | a0001c0001t0004g0240a0001c0001t0011g0223a0001c0001t0013g0243others(146): Show | 153 | 296 | 0.5169 | -2 | c.128 others(23): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCR_chr22_23175509_23323037 | 23240302 | CGT | C | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00438.hp1 others(43): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0004a0001c0001t0013a0001c0001t0104others(30): Show | a0001c0001t0004g0240a0001c0001t0013g0243a0001c0001t0104g0184others(42): Show | 46 | 296 | 0.1554 | -2 | c.128 others(23): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCR_chr22_23175509_23323037 | 23254917 | ACT | A | intron_variant | MODIFIER | HG02630.hp1 HG02723.hp2 HG02976.hp1 others(4): Show |
a0001a0004 | a0001c0004a0001c0026a0001c0032others(2): Show | a0001c0004t0109a0001c0026t0119a0001c0032t0116others(4): Show | a0001c0004t0109g0273a0001c0026t0119g0275a0001c0032t0116g0199others(4): Show | 7 | 296 | 0.0237 | -2 | c.146 others(19): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCR_chr22_23175509_23323037 | 23258260 | CCA | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00438.hp2 others(58): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0004a0001c0005others(7): Show | a0001c0001t0004a0001c0001t0008a0001c0001t0009others(48): Show | a0001c0001t0004g0240a0001c0001t0008g0125a0001c0001t0009g0109others(58): Show | 61 | 296 | 0.2061 | -2 | c.146 others(21): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 2/22 | chr22 | TogoVar | ||||||
BCR_chr22_23175509_23323037 | 23276407 | GAA | G | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00609.hp1 others(95): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0004others(13): Show | a0001c0001t0159a0001c0002t0004a0001c0002t0008others(75): Show | a0001c0001t0159g0287a0001c0002t0004g0227a0001c0002t0004g0261others(93): Show | 98 | 296 | 0.3311 | -2 | c.211 others(21): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCR_chr22_23175509_23323037 | 23297825 | AAG | A | intron_variant | MODIFIER | HG00609.hp2 HG00639.hp2 HG01081.hp1 others(41): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0004others(11): Show | a0001c0001t0023a0001c0001t0059a0001c0001t0062others(39): Show | a0001c0001t0023g0235a0001c0001t0023g0237a0001c0001t0059g0166others(41): Show | 44 | 296 | 0.1487 | -2 | c.301 others(21): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCR_chr22_23175509_23323037 | 23299694 | TTA | T | intron_variant | MODIFIER | HG00673.hp1 HG01123.hp2 HG01192.hp1 others(14): Show |
a0001a0003a0009 | a0001c0002a0001c0005a0003c0008others(3): Show | a0001c0002t0033a0001c0002t0083a0001c0002t0108others(9): Show | a0001c0002t0033g0132a0001c0002t0033g0283a0001c0002t0083g0119others(14): Show | 17 | 296 | 0.0574 | -2 | c.301 others(21): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCR_chr22_23175509_23323037 | 23305220 | CTG | C | intron_variant | MODIFIER | HG03209.hp1 HG03209.hp2 NA20129.hp1 |
a0001a0002 | a0001c0018a0001c0037a0002c0028 | a0001c0018t0048a0001c0037t0046a0002c0028t0179 | a0001c0018t0048g0268a0001c0037t0046g0267a0002c0028t0179g0016 | 3 | 296 | 0.0101 | -2 | c.301 others(21): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 16/22 | chr22 | TogoVar | ||||||
BCR_chr22_23175509_23323037 | 23307858 | AGG | A | intron_variant | MODIFIER | HG00099.hp2 HG00673.hp1 HG00735.hp1 others(36): Show |
a0001a0002a0003others(1): Show | a0001c0006a0001c0009a0001c0010others(11): Show | a0001c0006t0001a0001c0006t0061a0001c0006t0084others(17): Show | a0001c0006t0001g0145a0001c0006t0001g0149a0001c0006t0001g0156others(34): Show | 39 | 296 | 0.1318 | -2 | c.301 others(21): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCS1L_chr2_218654683_218668443 | 218656817 | CTT | C | upstream_gene_variant | MODIFIER | HG00558.hp1 HG01243.hp1 HG01891.hp1 others(52): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0002g0001others(2): Show | 55 | 358 | 0.1536 | -2 | c.-29 others(13): Show |
BCS1L | ENSG00000074582.15 | transcript | ENST00000359273.8 | protein_coding | 2865 | chr2 | TogoVar | ||||||
BCS1L_chr2_218654683_218668443 | 218667165 | CAA | C | downstream_gene_variant | MODIFIER | HG00558.hp1 HG01243.hp1 HG01891.hp1 others(49): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003a0001c0002t0001g0012 | 52 | 358 | 0.1453 | -2 | c.*37 others(13): Show |
BCS1L | ENSG00000074582.15 | transcript | ENST00000359273.8 | protein_coding | 3723 | chr2 | TogoVar | ||||||
BDH1_chr3_197504783_197560968 | 197506446 | GAA | G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG02683.hp1 HG03704.hp2 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0120a0001c0001t0139 | a0001c0001t0013g0103a0001c0001t0120g0260a0001c0001t0139g0170 | 3 | 319 | 0.0094 | -2 | c.*54 others(13): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 3336 | chr3 | TogoVar | ||||||
BDH1_chr3_197504783_197560968 | 197506762 | CAA | C | downstream_gene_variant | MODIFIER | HG01168.hp2 HG01975.hp2 HG02257.hp2 others(9): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0007 | a0001c0001t0001a0001c0001t0038a0001c0001t0094others(9): Show | a0001c0001t0001g0006a0001c0001t0038g0153a0001c0001t0094g0240others(9): Show | 12 | 319 | 0.0376 | -2 | c.*51 others(13): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 3020 | chr3 | TogoVar | ||||||
BDH1_chr3_197504783_197560968 | 197510671 | TAC | T | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG01261.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0013a0001c0001t0027a0001c0001t0028others(8): Show | a0001c0001t0013g0103a0001c0001t0013g0169a0001c0001t0013g0257others(12): Show | 15 | 319 | 0.0470 | -2 | c.*12 others(13): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 8/8 | 1222 | chr3 | TogoVar | |||||
BDH1_chr3_197504783_197560968 | 197510684 | GGT | G | 3_prime_UTR_variant | MODIFIER | HG01074.hp1 HG01074.hp2 HG01255.hp2 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0001t0036a0001c0001t0037others(20): Show | a0001c0001t0009g0124a0001c0001t0009g0158a0001c0001t0009g0229others(24): Show | 28 | 319 | 0.0878 | -2 | c.*12 others(13): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 8/8 | 1209 | chr3 | TogoVar | |||||
BDH1_chr3_197504783_197560968 | 197515892 | GCA | G | intron_variant | MODIFIER | HG00438.hp2 HG02486.hp1 NA18747.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0015a0001c0001t0031others(4): Show | a0001c0001t0006g0195a0001c0001t0015g0214a0001c0001t0031g0203others(4): Show | 7 | 319 | 0.0219 | -2 | c.410 others(19): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 6/7 | chr3 | TogoVar | ||||||
BDH1_chr3_197504783_197560968 | 197515914 | ACG | A | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG00733.hp2 others(25): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0001t0010a0001c0001t0013others(23): Show | a0001c0001t0003g0023a0001c0001t0010g0230a0001c0001t0013g0103others(24): Show | 28 | 319 | 0.0878 | -2 | c.410 others(19): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 6/7 | chr3 | TogoVar |