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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BCAS3_chr17_60672851_61397831 | 60782561 | G | GTTATTAT others(2): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02897.hp1 |
a0001a0002 | a0001c0008a0002c0003 | a0001c0008t0002a0002c0003t0002 | a0001c0008t0002g0062a0002c0003t0002g0039 | 2 | 74 | 0.0270 | 9 | c.404 others(28): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 60799520 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02818.hp2 HG03130.hp1 HG03139.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0060a0001c0002t0001g0065a0001c0002t0001g0066others(4): Show | 7 | 74 | 0.0946 | 9 | c.404 others(26): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 60841546 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02145.hp2 HG02615.hp1 others(11): Show |
a0001a0002 | a0001c0002a0002c0005a0002c0007 | a0001c0002t0001a0001c0002t0002a0002c0005t0001others(1): Show | a0001c0002t0001g0056a0001c0002t0001g0059a0001c0002t0001g0061others(11): Show | 14 | 74 | 0.1892 | 9 | c.477 others(28): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 60911123 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02145.hp1 HG02970.hp1 others(2): Show |
a0001a0003 | a0001c0004a0003c0001 | a0001c0004t0001a0003c0001t0001 | a0001c0004t0001g0047a0001c0004t0001g0049a0003c0001t0001g0002others(2): Show | 5 | 74 | 0.0676 | 9 | c.993 others(24): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 60967949 | T | TTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02897.hp1 HG03225.hp1 |
a0001a0003 | a0001c0004a0001c0008a0003c0001 | a0001c0004t0001a0001c0008t0002a0003c0001t0002 | a0001c0004t0001g0058a0001c0008t0002g0062a0003c0001t0002g0022 | 3 | 74 | 0.0405 | 9 | c.122 others(30): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 60979470 | C | CTTTTCCT others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01099.hp1 HG01891.hp2 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0005a0002c0006others(3): Show | a0001c0002t0001a0001c0002t0002a0002c0005t0001others(5): Show | a0001c0002t0001g0042a0001c0002t0001g0056a0001c0002t0002g0053others(13): Show | 16 | 74 | 0.2162 | 9 | c.122 others(30): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 61045969 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02615.hp1 HG03225.hp2 |
a0001a0004 | a0001c0002a0004c0009 | a0001c0002t0001a0001c0002t0002a0004c0009t0001 | a0001c0002t0001g0056a0001c0002t0002g0054a0004c0009t0001g0055 | 3 | 74 | 0.0405 | 9 | c.202 others(28): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 61192246 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02451.hp2 HG02559.hp1 others(13): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0002c0003others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(5): Show | a0001c0002t0001g0067a0001c0002t0002g0053a0001c0002t0002g0070others(13): Show | 16 | 74 | 0.2162 | 9 | c.242 others(32): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 61228310 | A | ACCGTAAT others(2): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02615.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0056a0001c0002t0002g0054 | 2 | 74 | 0.0270 | 9 | c.242 others(32): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61298822 | A | ATTTATTT others(2): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01952.hp1 HG02486.hp1 others(3): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0002c0003others(1): Show | a0001c0002t0002a0001c0004t0001a0001c0004t0002others(3): Show | a0001c0002t0002g0054a0001c0004t0001g0058a0001c0004t0002g0035others(3): Show | 6 | 74 | 0.0811 | 9 | c.242 others(30): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 61329791 | T | TCACCCTT others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01256.hp2 HG01891.hp1 others(26): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0002c0003others(5): Show | a0001c0002t0001a0001c0004t0001a0001c0004t0002others(9): Show | a0001c0002t0001g0056a0001c0002t0001g0059a0001c0004t0001g0045others(26): Show | 29 | 74 | 0.3919 | 9 | c.242 others(30): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS4_chr20_50790061_50882177 | 50796487 | A | ATATATTT others(2): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02738.hp1 HG02895.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010 | a0001c0001t0001g0107a0001c0001t0001g0267a0001c0001t0002g0105others(2): Show | 5 | 270 | 0.0185 | 9 | c.90+ others(24): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
BCAT1_chr12_24805024_24954101 | 24844894 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01361.hp2 HG01934.hp2 HG02165.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(11): Show | a0001c0001t0001g0064a0001c0001t0001g0291a0001c0001t0003g0025others(22): Show | 25 | 322 | 0.0776 | 9 | c.675 others(26): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24887061 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00639.hp1 others(42): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0007a0001c0001t0001g0067a0001c0001t0001g0091others(42): Show | 45 | 322 | 0.1398 | 9 | c.280 others(26): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 3/10 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24898520 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00621.hp1 HG00735.hp1 others(49): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0165a0001c0001t0001g0248a0001c0001t0002g0004others(49): Show | 52 | 322 | 0.1615 | 9 | c.78+ others(24): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 2/10 | chr12 | TogoVar | ||||||
BCAT2_chr19_48790064_48816029 | 48793958 | T | TGTGTGTG others(2): Show |
downstream_gene_variant | MODIFIER | NA18948.hp2 NA18979.hp2 NA18981.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0066a0001c0001t0001g0082others(1): Show | 5 | 408 | 0.0123 | 9 | c.*14 others(20): Show |
BCAT2 | ENSG00000105552.15 | transcript | ENST00000316273.11 | protein_coding | 1105 | chr19 | TogoVar | ||||||
BCAT2_chr19_48790064_48816029 | 48811494 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 HG01109.hp1 HG01109.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0013a0001c0001t0001g0090a0001c0001t0001g0235others(3): Show | 9 | 408 | 0.0221 | 9 | c.-48 others(18): Show |
BCAT2 | ENSG00000105552.15 | transcript | ENST00000316273.11 | protein_coding | 466 | chr19 | TogoVar | ||||||
BCKDHB_chr6_80101671_80351270 | 80120312 | C | CATGTGTG others(2): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01074.hp2 HG01081.hp1 others(16): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0159a0001c0001t0001g0163a0001c0001t0001g0164others(16): Show | 19 | 294 | 0.0646 | 9 | c.197 others(26): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCL11A_chr2_60452194_60558654 | 60467777 | G | GTGGTAGT others(2): Show |
intron_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG01071.hp2 others(24): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0025a0001c0001t0001g0028a0001c0001t0001g0046others(24): Show | 27 | 262 | 0.1031 | 9 | c.487 others(24): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60467842 | G | GGTGGTGG others(2): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01071.hp2 HG01884.hp2 others(14): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0025a0001c0001t0001g0028a0001c0001t0001g0046others(14): Show | 17 | 262 | 0.0649 | 9 | c.487 others(24): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60467912 | G | GTGGTGGT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00597.hp1 others(74): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0020a0001c0001t0001g0025a0001c0001t0001g0028others(74): Show | 77 | 262 | 0.2939 | 9 | c.487 others(24): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60477600 | T | TGAAAGAA others(2): Show |
intron_variant | MODIFIER | HG02683.hp2 HG03490.hp1 HG03669.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0006a0001c0002t0001 | a0001c0001t0002g0136a0001c0001t0006g0236a0001c0002t0001g0052 | 3 | 262 | 0.0115 | 9 | c.386 others(26): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 2/3 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60553511 | A | AAAAAAGA others(2): Show |
5_prime_UTR_variant | MODIFIER | HG01071.hp1 HG01515.hp2 HG01981.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0219a0001c0001t0005g0220a0001c0001t0005g0221others(12): Show | 15 | 262 | 0.0573 | 9 | c.-24 others(18): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 1/4 | 242 | chr2 | TogoVar | |||||
BCL11B_chr14_99164287_99277197 | 99187778 | T | TTCCTCCT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(265): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(86): Show | a0001c0001t0001g0151a0001c0001t0001g0159a0001c0001t0001g0164others(263): Show | 268 | 350 | 0.7657 | 9 | c.641 others(28): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 3/3 | chr14 | TogoVar | ||||||
BCL11B_chr14_99164287_99277197 | 99271298 | G | GCGCCGCT others(2): Show |
5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(40): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0006a0001c0001t0013a0001c0001t0029others(11): Show | a0001c0001t0006g0002a0001c0001t0006g0305a0001c0001t0006g0306others(39): Show | 43 | 350 | 0.1229 | 9 | c.-89 others(16): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 1/4 | 81 | chr14 | TogoVar | |||||
BCL2A1_chr15_79955892_79976196 | 79959784 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG01496.hp1 HG02559.hp1 HG02622.hp2 others(7): Show |
a0003a0004a0005 | a0003c0003a0004c0004a0005c0005 | a0003c0003t0001a0004c0004t0001a0005c0005t0001 | a0003c0003t0001g0016a0004c0004t0001g0021a0004c0004t0001g0045others(4): Show | 10 | 436 | 0.0229 | 9 | c.*12 others(20): Show |
BCL2A1 | ENSG00000140379.9 | transcript | ENST00000267953.4 | protein_coding | 1107 | chr15 | TogoVar | ||||||
BCL2L11_chr2_111115914_111173444 | 111120979 | T | TGCCGCCG others(2): Show |
5_prime_UTR_variant | MODIFIER | HG00741.hp2 HG02602.hp1 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0038 | a0001c0001t0021g0009a0001c0001t0021g0039a0001c0001t0038g0051 | 3 | 398 | 0.0075 | 9 | c.-18 others(18): Show |
BCL2L11 | ENSG00000153094.25 | transcript | ENST00000393256.8 | protein_coding | 1/4 | 2724 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
BCL2L11_chr2_111115914_111173444 | 111170699 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG00609.hp1 HG03098.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0008a0001c0001t0031others(2): Show | a0001c0001t0005g0003a0001c0001t0005g0028a0001c0001t0005g0164others(12): Show | 18 | 398 | 0.0452 | 9 | c.*64 others(20): Show |
BCL2L11 | ENSG00000153094.25 | transcript | ENST00000393256.8 | protein_coding | 2256 | chr2 | TogoVar | ||||||
BCL2L13_chr22_17633757_17735855 | 17646955 | A | ATATATTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG01070.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0002g0128a0001c0001t0002g0162a0001c0001t0004g0163others(7): Show | 10 | 306 | 0.0327 | 9 | c.-51 others(26): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCL2L13_chr22_17633757_17735855 | 17680215 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(138): Show |
a0001 | a0001c0001a0001c0009a0001c0012others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(35): Show | a0001c0001t0002g0099a0001c0001t0002g0111a0001c0001t0002g0112others(138): Show | 141 | 306 | 0.4608 | 9 | c.122 others(26): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCL2L13_chr22_17633757_17735855 | 17685760 | C | CTTTTTCT others(2): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02818.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0010a0001c0001t0013others(5): Show | a0001c0001t0008g0226a0001c0001t0008g0230a0001c0001t0010g0235others(8): Show | 11 | 306 | 0.0360 | 9 | c.229 others(26): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCL2_chr18_63118346_63324769 | 63324508 | A | AAATAATA others(2): Show |
upstream_gene_variant | MODIFIER | HG01070.hp2 HG01978.hp2 HG01981.hp2 others(6): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0011a0001c0001t0030others(2): Show | a0001c0001t0002g0004a0001c0001t0002g0009a0001c0001t0002g0017others(6): Show | 9 | 264 | 0.0341 | 9 | c.-56 others(20): Show |
BCL2 | ENSG00000171791.14 | transcript | ENST00000333681.5 | protein_coding | 4740 | chr18 | TogoVar | ||||||
BCL6B_chr17_7018050_7034644 | 7024700 | C | CCAGCAGC others(2): Show |
disruptive_inframe_insertion | MODERATE | HG01884.hp1 HG02965.hp1 HG03195.hp2 |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0002 | 3 | 356 | 0.0084 | 9 | c.723 others(16): Show |
p.Ser others(13): Show |
BCL6B | ENSG00000161940.11 | transcript | ENST00000293805.10 | protein_coding | 4/9 | 794/3527 | 732/1440 | 244/479 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |
BCL7B_chr7_73531356_73562690 | 73561529 | A | AAATAATA others(2): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(86): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(57): Show | 89 | 284 | 0.3134 | 9 | c.-39 others(20): Show |
BCL7B | ENSG00000106635.8 | transcript | ENST00000223368.7 | protein_coding | 3840 | chr7 | TogoVar | ||||||
BCLAF3_chrX_19907860_19996061 | 19951595 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01256.hp1 HG01496.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0015others(2): Show | a0001c0001t0002g0035a0001c0001t0005g0065a0001c0001t0005g0066others(8): Show | 11 | 207 | 0.0531 | 9 | c.163 others(26): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 7/11 | chrX | TogoVar | ||||||
BCLAF3_chrX_19907860_19996061 | 19990922 | C | CCCGCCGC others(2): Show |
5_prime_UTR_variant | MODIFIER | HG02257.hp2 HG02572.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0028a0002c0002t0029 | a0001c0001t0028g0009a0002c0002t0029g0008 | 2 | 207 | 0.0097 | 9 | c.-58 others(16): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 1/12 | 20659 | chrX | TogoVar | |||||
BCO2_chr11_112170512_112223946 | 112192925 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00597.hp2 others(58): Show |
a0001a0005a0010others(2): Show | a0001c0001a0005c0004a0010c0023others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(4): Show | a0001c0001t0001g0010a0001c0001t0001g0018a0001c0001t0001g0020others(57): Show | 61 | 380 | 0.1605 | 9 | c.294 others(24): Show |
BCO2 | ENSG00000197580.13 | transcript | ENST00000357685.11 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BCORL1_chrX_129977635_130063071 | 130003352 | C | CCTTCTTC others(2): Show |
intron_variant | MODIFIER | HG02622.hp2 NA19043.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0148a0001c0003t0002g0174 | 2 | 203 | 0.0099 | 9 | c.-44 others(26): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BCORL1_chrX_129977635_130063071 | 130011571 | G | GACTTTCA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00735.hp1 others(131): Show |
a0001a0003a0005others(3): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(131): Show | 134 | 203 | 0.6601 | 9 | c.87- others(24): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 2/13 | chrX | TogoVar | ||||||
BCORL1_chrX_129977635_130063071 | 130043784 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 203 | 0.0049 | 9 | c.484 others(28): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BCORL1_chrX_129977635_130063071 | 130043785 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG01884.hp2 HG01928.hp1 HG02280.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0022a0001c0001t0001g0083others(3): Show | 6 | 203 | 0.0296 | 9 | c.484 others(28): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 11/13 | chrX | TogoVar | ||||||
BCR_chr22_23175509_23323037 | 23219904 | C | CCTGCACC others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(171): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0004others(25): Show | a0001c0001t0004a0001c0001t0011a0001c0001t0013others(137): Show | a0001c0001t0004g0240a0001c0001t0011g0223a0001c0001t0013g0243others(167): Show | 174 | 296 | 0.5878 | 9 | c.128 others(30): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BDH1_chr3_197504783_197560968 | 197510681 | T | TGTGTGTG others(2): Show |
3_prime_UTR_variant | MODIFIER | HG01169.hp1 HG01358.hp1 HG01981.hp2 |
a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0152a0001c0001t0017g0155a0001c0001t0017g0193 | 3 | 319 | 0.0094 | 9 | c.*12 others(20): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 8/8 | 1213 | chr3 | TogoVar | |||||
BDH1_chr3_197504783_197560968 | 197510684 | G | GTGTGTGT others(2): Show |
3_prime_UTR_variant | MODIFIER | HG01081.hp1 NA18977.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0115 | a0001c0001t0022g0175a0001c0001t0022g0265a0001c0001t0115g0184 | 3 | 319 | 0.0094 | 9 | c.*12 others(20): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 8/8 | 1210 | chr3 | TogoVar | |||||
BDKRB2_chr14_96199839_96249164 | 96200430 | A | AGCTCCTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00735.hp1 others(72): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0007others(69): Show | 75 | 436 | 0.1720 | 9 | c.-45 others(20): Show |
BDKRB2 | ENSG00000168398.7 | transcript | ENST00000554311.2 | protein_coding | 4408 | chr14 | TogoVar | ||||||
BDKRB2_chr14_96199839_96249164 | 96209997 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00438.hp2 others(27): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(9): Show | a0001c0001t0001g0010a0001c0001t0001g0026a0001c0001t0001g0166others(24): Show | 30 | 436 | 0.0688 | 9 | c.-40 others(26): Show |
BDKRB2 | ENSG00000168398.7 | transcript | ENST00000554311.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
BDNF_chr11_27649893_27705455 | 27698226 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01168.hp1 HG01255.hp1 others(10): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0007 | a0002c0002t0002g0219a0002c0002t0002g0223a0002c0002t0002g0224others(10): Show | 13 | 360 | 0.0361 | 9 | c.-22 others(26): Show |
BDNF | ENSG00000176697.20 | transcript | ENST00000356660.9 | protein_coding | 1/1 | chr11 | TogoVar | ||||||
BDP1_chr5_71450651_71572820 | 71572301 | C | CCCCTTTG others(2): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 HG02976.hp1 HG03098.hp1 others(3): Show |
a0009 | a0009c0008 | a0009c0008t0002a0009c0008t0007 | a0009c0008t0002g0007a0009c0008t0002g0090a0009c0008t0007g0095others(3): Show | 6 | 325 | 0.0185 | 9 | c.*74 others(20): Show |
BDP1 | ENSG00000145734.20 | transcript | ENST00000358731.9 | protein_coding | 4482 | chr5 | TogoVar | ||||||
BEGAIN_chr14_100532147_100592417 | 100583692 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00438.hp2 others(71): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0008a0001c0002t0001others(10): Show | a0001c0001t0001g0063a0001c0001t0001g0149a0001c0001t0001g0151others(71): Show | 74 | 326 | 0.2270 | 9 | c.42+ others(24): Show |
BEGAIN | ENSG00000183092.18 | transcript | ENST00000554140.3 | protein_coding | 1/6 | chr14 | TogoVar | ||||||
BEND4_chr4_42105853_42157655 | 42123696 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02622.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0016a0002c0002t0017a0002c0002t0030 | a0001c0001t0016g0125a0001c0001t0016g0135a0002c0002t0017g0024others(1): Show | 5 | 226 | 0.0221 | 9 | c.114 others(28): Show |
BEND4 | ENSG00000188848.17 | transcript | ENST00000502486.6 | protein_coding | 4/5 | chr4 | TogoVar |