view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
B3GLCT_chr13_31194975_31337276 | 31306544 | A | AATCAT | intron_variant | MODIFIER | HG02055.hp2 HG02145.hp2 HG02559.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0088 a0001c0001t0001g0110 a0001c0001t0001g0172 others(5): Show |
8 | 266 | 0.0301 | 5 | c.106 others(26): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 12/14 | chr13 | TogoVar | |||||||
B3GNT3_chr19_17790138_17818576 | 17791267 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG02647.hp2 HG02809.hp2 HG02896.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0002a0001c0001t0006a0001c0003t0008others(1): Show | a0001c0001t0002g0010 a0001c0001t0006g0259 a0001c0003t0008g0189 others(1): Show |
4 | 256 | 0.0156 | 5 | c.-39 others(16): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 3870 | chr19 | TogoVar | |||||||
B3GNT3_chr19_17790138_17818576 | 17804533 | C | CTTTTT | intron_variant | MODIFIER | HG01074.hp2 HG02258.hp2 HG02572.hp1 others(5): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0003a0001c0001t0013a0002c0002t0014others(1): Show | a0001c0001t0003g0261 a0001c0001t0013g0149 a0002c0002t0014g0018 others(3): Show |
8 | 9 | 0.8889 | 5 | c.-50 others(22): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
B3GNT4_chr12_122198709_122213952 | 122213507 | G | GAAAAA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp2 others(160): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0014a0001c0015others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(21): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0023 others(27): Show |
163 | 324 | 0.5031 | 5 | c.*61 others(16): Show |
B3GNT4 | ENSG00000176383.9 | transcript | ENST00000324189.5 | protein_coding | 4556 | chr12 | TogoVar | |||||||
B3GNT5_chr3_183248253_183278385 | 183257958 | C | CTTTTT | intron_variant | MODIFIER | HG01081.hp2 HG01255.hp1 HG02109.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0047 a0001c0001t0001g0184 a0001c0001t0001g0185 others(8): Show |
15 | 26 | 0.5769 | 5 | c.-30 others(24): Show |
B3GNT5 | ENSG00000176597.12 | transcript | ENST00000326505.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
B3GNT5_chr3_183248253_183278385 | 183266790 | C | CTTTTT | intron_variant | MODIFIER | HG01081.hp2 HG02257.hp2 HG02572.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0014 a0001c0001t0005g0046 a0001c0001t0005g0054 others(2): Show |
9 | 379 | 0.0237 | 5 | c.-30 others(24): Show |
B3GNT5 | ENSG00000176597.12 | transcript | ENST00000326505.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
B4GALNT1_chr12_57618409_57638201 | 57634082 | A | ACCCCC | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG01928.hp2 others(12): Show |
a0001a0006 | a0001c0001a0006c0009 | a0001c0001t0001a0006c0009t0001 | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0025 others(1): Show |
15 | 118 | 0.1271 | 5 | c.-13 others(16): Show |
B4GALNT1 | ENSG00000135454.14 | transcript | ENST00000341156.9 | protein_coding | 882 | chr12 | TogoVar | |||||||
B4GALNT2_chr17_49127769_49181840 | 49129618 | A | ATTTTT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(109): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0014 a0001c0001t0001g0177 a0001c0001t0001g0181 others(103): Show |
112 | 356 | 0.3146 | 5 | c.-31 others(16): Show |
B4GALNT2 | ENSG00000167080.9 | transcript | ENST00000393354.7 | protein_coding | 3150 | chr17 | TogoVar | |||||||
B4GALNT2_chr17_49127769_49181840 | 49159334 | G | GTTTGT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(228): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 others(210): Show |
231 | 372 | 0.6210 | 5 | c.679 others(20): Show |
B4GALNT2 | ENSG00000167080.9 | transcript | ENST00000393354.7 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
B4GALNT2_chr17_49127769_49181840 | 49162912 | C | CAAAAA | intron_variant | MODIFIER | HG01175.hp1 HG01243.hp1 HG01346.hp1 others(20): Show |
a0001a0004 | a0001c0001a0004c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(8): Show | a0001c0001t0001g0214 a0001c0001t0002g0025 a0001c0001t0002g0026 others(19): Show |
23 | 25 | 0.9200 | 5 | c.767 others(22): Show |
B4GALNT2 | ENSG00000167080.9 | transcript | ENST00000393354.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 500865 | C | CTTTTT | intron_variant | MODIFIER | HG00280.hp1 HG00733.hp2 HG01081.hp2 others(18): Show |
a0001a0003a0005others(3): Show | a0001c0001a0001c0002a0001c0016others(6): Show | a0001c0001t0016a0001c0001t0028a0001c0001t0055others(15): Show | a0001c0001t0016g0282 a0001c0001t0028g0208 a0001c0001t0055g0181 others(18): Show |
21 | 41 | 0.5122 | 5 | c.170 others(24): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 539912 | A | AAAAAT | intron_variant | MODIFIER | HG01358.hp1 HG01952.hp2 HG02257.hp1 others(2): Show |
a0003 | a0003c0004 | a0003c0004t0002a0003c0004t0020a0003c0004t0029 | a0003c0004t0002g0285 a0003c0004t0002g0297 a0003c0004t0020g0189 others(2): Show |
5 | 392 | 0.0128 | 5 | c.351 others(22): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 555653 | C | CTGCCA | intron_variant | MODIFIER | HG02622.hp1 HG02723.hp1 HG02809.hp1 others(4): Show |
a0001a0005 | a0001c0001a0001c0048a0005c0006others(1): Show | a0001c0001t0002a0001c0001t0022a0001c0001t0031others(4): Show | a0001c0001t0002g0294 a0001c0001t0022g0204 a0001c0001t0031g0314 others(4): Show |
7 | 392 | 0.0179 | 5 | c.206 others(22): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 14/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33105880 | G | GTTTTT | downstream_gene_variant | MODIFIER | HG00558.hp2 HG00642.hp1 HG00735.hp2 others(35): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0001g0059 others(34): Show |
38 | 100 | 0.3800 | 5 | c.*75 others(16): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 4761 | chr9 | TogoVar | |||||||
B4GALT1_chr9_33105642_33172336 | 33152309 | A | AATAAC | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00609.hp2 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(36): Show |
43 | 312 | 0.1378 | 5 | c.412 others(24): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
B4GALT2_chr1_43974210_43996168 | 43989320 | C | CAAAAA | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00642.hp2 others(20): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0004 | a0001c0001t0001a0002c0003t0003a0003c0004t0001 | a0001c0001t0001g0022 a0001c0001t0001g0057 a0001c0001t0001g0160 others(13): Show |
23 | 92 | 0.2500 | 5 | c.969 others(20): Show |
B4GALT2 | ENSG00000117411.18 | transcript | ENST00000372324.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
B4GALT4_chr3_119206742_119245878 | 119239325 | C | CAAAAA | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01433.hp1 others(17): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0015 a0001c0001t0001g0025 a0001c0001t0001g0107 others(9): Show |
20 | 136 | 0.1471 | 5 | c.-36 others(24): Show |
B4GALT4 | ENSG00000121578.13 | transcript | ENST00000393765.7 | protein_coding | 1/7 | chr3 | TogoVar | |||||||
B4GALT5_chr20_49627945_49718878 | 49633437 | C | CTGTTT | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(124): Show |
a0001a0003 | a0001c0002a0001c0003a0001c0005others(2): Show | a0001c0002t0001a0001c0002t0010a0001c0002t0013others(13): Show | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0210 others(124): Show |
127 | 362 | 0.3508 | 5 | c.*28 others(16): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 9/9 | 2874 | chr20 | TogoVar | ||||||
B4GALT5_chr20_49627945_49718878 | 49710405 | C | CTCTTT | intron_variant | MODIFIER | HG01361.hp2 HG02451.hp1 HG02486.hp2 others(4): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0004a0001c0001t0018a0001c0001t0021others(3): Show | a0001c0001t0004g0184 a0001c0001t0018g0100 a0001c0001t0021g0183 others(4): Show |
7 | 75 | 0.0933 | 5 | c.115 others(22): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 1/8 | chr20 | TogoVar | |||||||
B4GALT7_chr5_177595132_177615330 | 177598362 | T | TAAATA | upstream_gene_variant | MODIFIER | HG02258.hp1 HG02723.hp2 HG02818.hp2 others(2): Show |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0030 a0001c0005t0001g0077 a0001c0005t0001g0078 |
5 | 286 | 0.0175 | 5 | c.-18 others(16): Show |
B4GALT7 | ENSG00000027847.14 | transcript | ENST00000029410.10 | protein_coding | 1769 | chr5 | TogoVar | |||||||
BAALC_chr8_103135725_103235305 | 103161959 | T | TTTTTG | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(160): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0011 others(139): Show |
163 | 330 | 0.4939 | 5 | c.160 others(24): Show |
BAALC | ENSG00000164929.17 | transcript | ENST00000309982.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BAALC_chr8_103135725_103235305 | 103174260 | C | CAAAAA | intron_variant | MODIFIER | HG01255.hp2 HG02630.hp2 HG02886.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010 | a0001c0001t0001g0181 a0001c0001t0001g0250 a0001c0001t0002g0184 others(4): Show |
7 | 178 | 0.0393 | 5 | c.160 others(24): Show |
BAALC | ENSG00000164929.17 | transcript | ENST00000309982.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 27928463 | T | TTTCTC | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG00639.hp2 others(89): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0013 others(89): Show |
92 | 156 | 0.5897 | 5 | c.129 others(22): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 27942349 | A | ATTATT | intron_variant | MODIFIER | HG00741.hp1 HG00741.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 a0001c0001t0001g0154 |
2 | 156 | 0.0128 | 5 | c.205 others(24): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28020991 | A | ACACAC | intron_variant | MODIFIER | HG02897.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0046 a0001c0001t0002g0020 |
2 | 154 | 0.0130 | 5 | c.301 others(22): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 4/11 | chr2 | TogoVar | |||||||
BABAM2_chr2_27885729_28343901 | 28070551 | C | CTTTTT | intron_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG01891.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0023 others(9): Show |
12 | 153 | 0.0784 | 5 | c.570 others(24): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28103301 | T | TTTTTG | intron_variant | MODIFIER | HG00741.hp2 HG01109.hp2 HG02074.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0067 a0001c0001t0001g0074 a0001c0001t0001g0081 others(17): Show |
20 | 74 | 0.2703 | 5 | c.571 others(24): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28176569 | C | CAAAAA | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG01167.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0001t0001g0143 others(7): Show |
10 | 14 | 0.7143 | 5 | c.680 others(24): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28196836 | C | CTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00738.hp2 HG01069.hp2 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0031 a0001c0001t0001g0042 others(30): Show |
33 | 38 | 0.8684 | 5 | c.681 others(24): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28259074 | C | CTTTTT | intron_variant | MODIFIER | HG01106.hp1 HG01891.hp2 HG02074.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0034 others(15): Show |
18 | 37 | 0.4865 | 5 | c.934 others(24): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28299927 | T | TTTTTA | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0138 a0001c0001t0002g0011 a0001c0001t0003g0137 |
3 | 156 | 0.0192 | 5 | c.108 others(24): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28315421 | T | TTTTTC | intron_variant | MODIFIER | HG00741.hp1 HG01081.hp1 HG01099.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0022 a0001c0001t0001g0043 a0001c0001t0001g0045 others(8): Show |
11 | 31 | 0.3548 | 5 | c.108 others(26): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28317353 | A | AATAGC | intron_variant | MODIFIER | HG02280.hp1 HG02451.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 a0001c0001t0001g0055 a0001c0001t0001g0056 |
3 | 156 | 0.0192 | 5 | c.108 others(26): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BACE2_chr21_41163160_41287530 | 41224209 | A | ATTTTT | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG01069.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(9): Show | a0001c0001t0002g0066 a0001c0001t0002g0074 a0001c0001t0002g0088 others(23): Show |
26 | 158 | 0.1646 | 5 | c.313 others(22): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
BACH1_chr21_29293922_29351148 | 29298931 | G | GGCCGC | 5_prime_UTR_variant | MODIFIER | NA18959.hp1 NA18998.hp1 NA19083.hp2 |
a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0003 a0001c0002t0016g0015 a0001c0002t0016g0132 |
3 | 366 | 0.0082 | 5 | c.-74 others(12): Show |
BACH1 | ENSG00000156273.16 | transcript | ENST00000286800.8 | protein_coding | 1/5 | 22336 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
BACH1_chr21_29293922_29351148 | 29298940 | G | GCGCCT | 5_prime_UTR_variant | MODIFIER | HG00544.hp2 HG01975.hp1 HG02145.hp1 others(29): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0007a0001c0001t0011a0001c0001t0012others(8): Show | a0001c0001t0007g0230 a0001c0001t0007g0231 a0001c0001t0007g0232 others(27): Show |
32 | 366 | 0.0874 | 5 | c.-72 others(12): Show |
BACH1 | ENSG00000156273.16 | transcript | ENST00000286800.8 | protein_coding | 1/5 | 22334 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
BACH1_chr21_29293922_29351148 | 29323026 | C | CTAATT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(300): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0008others(34): Show | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0009 others(223): Show |
303 | 365 | 0.8301 | 5 | c.234 others(22): Show |
BACH1 | ENSG00000156273.16 | transcript | ENST00000286800.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
BACH2_chr6_89921528_90301843 | 90014468 | A | ATATAT | intron_variant | MODIFIER | HG00621.hp2 HG00642.hp1 HG01175.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0040a0001c0001t0090a0001c0002t0027others(3): Show | a0001c0001t0040g0111 a0001c0001t0090g0041 a0001c0002t0027g0176 others(4): Show |
7 | 119 | 0.0588 | 5 | c.-12 others(22): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 5/8 | chr6 | TogoVar | |||||||
BACH2_chr6_89921528_90301843 | 90014469 | T | TATATA | intron_variant | MODIFIER | HG03098.hp2 NA18946.hp2 NA19084.hp2 |
a0001 | a0001c0003a0001c0004a0001c0005 | a0001c0003t0012a0001c0004t0060a0001c0005t0010 | a0001c0003t0012g0096 a0001c0004t0060g0149 a0001c0005t0010g0113 |
3 | 179 | 0.0168 | 5 | c.-12 others(22): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 5/8 | chr6 | TogoVar | |||||||
BAG3_chr10_119646380_119682819 | 119665092 | T | TCTGTG | intron_variant | MODIFIER | HG00099.hp1 HG00738.hp1 HG00741.hp2 others(22): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0005a0003c0004t0003a0003c0004t0005others(1): Show | a0001c0001t0005g0107 a0003c0004t0003g0003 a0003c0004t0003g0008 others(14): Show |
25 | 242 | 0.1033 | 5 | c.181 others(22): Show |
BAG3 | ENSG00000151929.10 | transcript | ENST00000369085.8 | protein_coding | 1/3 | chr10 | TogoVar | |||||||
BAG3_chr10_119646380_119682819 | 119665092 | T | TGTGTG | intron_variant | MODIFIER | HG02809.hp2 HG03453.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006 | a0001c0001t0001g0227 a0001c0001t0004g0208 a0001c0001t0006g0299 |
3 | 220 | 0.0136 | 5 | c.181 others(22): Show |
BAG3 | ENSG00000151929.10 | transcript | ENST00000369085.8 | protein_coding | 1/3 | chr10 | TogoVar | |||||||
BAG3_chr10_119646380_119682819 | 119665138 | A | ATTTTT | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00735.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0026 a0001c0001t0003g0115 a0001c0001t0003g0118 others(13): Show |
18 | 189 | 0.0952 | 5 | c.181 others(22): Show |
BAG3 | ENSG00000151929.10 | transcript | ENST00000369085.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BAG3_chr10_119646380_119682819 | 119675869 | C | CCCCTT | intron_variant | MODIFIER | HG00639.hp2 HG01069.hp2 HG02015.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 a0001c0001t0001g0089 a0001c0001t0001g0157 others(11): Show |
14 | 418 | 0.0335 | 5 | c.910 others(20): Show |
BAG3 | ENSG00000151929.10 | transcript | ENST00000369085.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BAG3_chr10_119646380_119682819 | 119678707 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00735.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0002t0001 | a0001c0001t0003g0115 a0001c0001t0003g0117 a0001c0001t0003g0118 others(17): Show |
21 | 294 | 0.0714 | 5 | c.*14 others(16): Show |
BAG3 | ENSG00000151929.10 | transcript | ENST00000369085.8 | protein_coding | 889 | chr10 | TogoVar | |||||||
BAG4_chr8_38171855_38218301 | 38184466 | C | CAAATA | intron_variant | MODIFIER | HG01258.hp1 HG01258.hp2 HG02004.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007 | a0001c0001t0001g0007 a0001c0001t0001g0160 a0001c0001t0001g0161 others(8): Show |
12 | 203 | 0.0591 | 5 | c.270 others(22): Show |
BAG4 | ENSG00000156735.11 | transcript | ENST00000287322.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BAG6_chr6_31634028_31657661 | 31652320 | A | ACACAC | intron_variant | MODIFIER | HG02056.hp2 HG03688.hp2 HG03927.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 a0001c0001t0001g0126 a0001c0001t0001g0127 |
4 | 150 | 0.0267 | 5 | c.-14 others(20): Show |
BAG6 | ENSG00000204463.14 | transcript | ENST00000676615.2 | protein_coding | 1/25 | chr6 | TogoVar | |||||||
BAHCC1_chr17_81390457_81471331 | 81454539 | C | CCCCCA | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01074.hp2 others(8): Show |
a0006a0031 | a0006c0006a0006c0020a0031c0098 | a0006c0006t0001a0006c0006t0002a0006c0020t0002others(1): Show | a0006c0006t0001g0009 a0006c0006t0001g0150 a0006c0006t0001g0151 others(8): Show |
11 | 330 | 0.0333 | 5 | c.444 others(22): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BAIAP2L1_chr7_98286650_98406090 | 98337512 | T | TGAGGA | intron_variant | MODIFIER | HG02258.hp2 HG02559.hp1 HG03130.hp2 others(3): Show |
a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0004 a0001c0005t0005g0005 a0001c0005t0005g0006 others(3): Show |
6 | 296 | 0.0203 | 5 | c.215 others(24): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 3/13 | chr7 | TogoVar | |||||||
BAIAP2L1_chr7_98286650_98406090 | 98340959 | G | GTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG01256.hp2 HG01346.hp2 others(4): Show |
a0001a0003 | a0001c0003a0001c0004a0003c0010 | a0001c0003t0003a0001c0004t0003a0003c0010t0003 | a0001c0003t0003g0121 a0001c0004t0003g0086 a0001c0004t0003g0115 others(4): Show |
7 | 90 | 0.0778 | 5 | c.214 others(24): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 3/13 | chr7 | TogoVar | |||||||
BAIAP2L1_chr7_98286650_98406090 | 98353961 | C | CAATAA | intron_variant | MODIFIER | HG02723.hp1 HG03130.hp2 HG03579.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0004a0001c0005t0005 | a0001c0001t0004g0155 a0001c0005t0005g0008 a0001c0005t0005g0009 |
3 | 19 | 0.1579 | 5 | c.214 others(22): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 3/13 | chr7 | TogoVar |