| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| BACH1_chr21_29293922_29351148 | 29306169 | AGTGTGT | A | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG01109.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0008a0001c0001t0027a0001c0001t0028others(6): Show | a0001c0001t0008g0022a0001c0001t0008g0025a0001c0001t0027g0059others(8): Show | 13 | 368 | 0.0353 | -6 | c.-61 others(23): Show |
BACH1 | ENSG00000156273.16 | transcript | ENST00000286800.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| BACH1_chr21_29293922_29351148 | 29324556 | TTGTGTG | T | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp1 others(79): Show |
a0001a0002a0004 | a0001c0001a0001c0005a0002c0003others(1): Show | a0001c0001t0002a0001c0001t0014a0001c0001t0026others(6): Show | a0001c0001t0002g0001a0001c0001t0002g0005a0001c0001t0002g0009others(49): Show | 82 | 368 | 0.2228 | -6 | c.235 others(23): Show |
BACH1 | ENSG00000156273.16 | transcript | ENST00000286800.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| BACH1_chr21_29293922_29351148 | 29337929 | TAAAACA | T | intron_variant | MODIFIER | HG00544.hp2 HG02280.hp2 HG02895.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0011a0001c0001t0012others(4): Show | a0001c0001t0007g0237a0001c0001t0007g0238a0001c0001t0007g0239others(17): Show | 23 | 368 | 0.0625 | -6 | c.177 others(25): Show |
BACH1 | ENSG00000156273.16 | transcript | ENST00000286800.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| BACH1_chr21_29293922_29351148 | 29344634 | TTGTGTG | T | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(104): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0011a0001c0001t0027a0001c0001t0028others(11): Show | a0001c0001t0011g0043a0001c0001t0011g0185a0001c0001t0011g0187others(82): Show | 107 | 368 | 0.2908 | -6 | c.*18 others(17): Show |
BACH1 | ENSG00000156273.16 | transcript | ENST00000286800.8 | protein_coding | 5/5 | 1831 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||
| BACH2_chr6_89921528_90301843 | 89930114 | GACACAC | G | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00438.hp1 others(34): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0011others(22): Show | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0100others(34): Show | 37 | 194 | 0.1907 | -6 | c.*22 others(17): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 9/9 | 2288 | chr6 | TogoVar | |||||
| BACH2_chr6_89921528_90301843 | 89939656 | CTTTTTT | C | intron_variant | MODIFIER | HG00408.hp1 HG00621.hp1 HG00621.hp2 others(55): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0012others(47): Show | a0001c0001t0001g0100a0001c0001t0001g0141a0001c0001t0011g0091others(55): Show | 58 | 194 | 0.2990 | -6 | c.183 others(25): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 7/8 | chr6 | TogoVar | ||||||
| BACH2_chr6_89921528_90301843 | 89959097 | GCACACA | G | intron_variant | MODIFIER | HG00738.hp1 HG02055.hp1 HG02559.hp2 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0001t0027a0001c0001t0042others(6): Show | a0001c0001t0004g0036a0001c0001t0027g0187a0001c0001t0042g0094others(6): Show | 9 | 194 | 0.0464 | -6 | c.244 others(23): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 6/8 | chr6 | TogoVar | ||||||
| BACH2_chr6_89921528_90301843 | 90102791 | AAATAAT | A | intron_variant | MODIFIER | HG00423.hp2 HG00642.hp2 HG01175.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0012others(18): Show | a0001c0001t0003g0053a0001c0001t0007g0165a0001c0001t0012g0044others(23): Show | 26 | 194 | 0.1340 | -6 | c.-16 others(27): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 4/8 | chr6 | TogoVar | ||||||
| BACH2_chr6_89921528_90301843 | 90210312 | AACACAC | A | intron_variant | MODIFIER | HG02602.hp2 HG02698.hp1 |
a0001 | a0001c0002 | a0001c0002t0077a0001c0002t0083 | a0001c0002t0077g0152a0001c0002t0083g0154 | 2 | 194 | 0.0103 | -6 | c.-27 others(25): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 3/8 | chr6 | TogoVar | ||||||
| BACH2_chr6_89921528_90301843 | 90211588 | CTGTGTG | C | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp2 HG02258.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0048others(13): Show | a0001c0001t0003g0029a0001c0001t0004g0016a0001c0001t0048g0018others(14): Show | 17 | 194 | 0.0876 | -6 | c.-27 others(25): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 3/8 | chr6 | TogoVar | ||||||
| BACH2_chr6_89921528_90301843 | 90219785 | TACACAC | T | intron_variant | MODIFIER | HG00423.hp2 HG00621.hp2 HG01978.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0040a0001c0001t0042others(5): Show | a0001c0001t0001g0139a0001c0001t0040g0111a0001c0001t0042g0094others(5): Show | 8 | 194 | 0.0412 | -6 | c.-27 others(27): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 3/8 | chr6 | TogoVar | ||||||
| BACH2_chr6_89921528_90301843 | 90239798 | TACACAC | T | intron_variant | MODIFIER | HG00438.hp2 HG00642.hp1 HG01175.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0017others(16): Show | a0001c0001t0002g0033a0001c0001t0002g0076a0001c0001t0004g0036others(18): Show | 21 | 194 | 0.1083 | -6 | c.-27 others(27): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 3/8 | chr6 | TogoVar | ||||||
| BAD_chr11_64264830_64289665 | 64270900 | GACACAC | G | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG00597.hp1 others(115): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0009a0001c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(99): Show | 118 | 388 | 0.3041 | -6 | c.379 others(21): Show |
BAD | ENSG00000002330.14 | transcript | ENST00000309032.8 | protein_coding | 3/3 | chr11 | TogoVar | ||||||
| BAD_chr11_64264830_64289665 | 64270975 | GACACAC | G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(32): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0029a0001c0001t0001g0220a0001c0001t0001g0222others(26): Show | 35 | 388 | 0.0902 | -6 | c.378 others(21): Show |
BAD | ENSG00000002330.14 | transcript | ENST00000309032.8 | protein_coding | 3/3 | chr11 | TogoVar | ||||||
| BAD_chr11_64264830_64289665 | 64271207 | TCACACA | T | intron_variant | MODIFIER | HG01255.hp1 HG02165.hp2 HG03209.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082a0001c0001t0001g0107a0001c0001t0001g0199others(1): Show | 4 | 388 | 0.0103 | -6 | c.378 others(21): Show |
BAD | ENSG00000002330.14 | transcript | ENST00000309032.8 | protein_coding | 3/3 | chr11 | TogoVar | ||||||
| BAD_chr11_64264830_64289665 | 64271294 | TCTCACA | T | intron_variant | MODIFIER | HG00558.hp1 HG01099.hp1 HG02004.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0085a0001c0001t0001g0170a0001c0001t0001g0196others(8): Show | 11 | 388 | 0.0284 | -6 | c.378 others(21): Show |
BAD | ENSG00000002330.14 | transcript | ENST00000309032.8 | protein_coding | 3/3 | chr11 | TogoVar | ||||||
| BAD_chr11_64264830_64289665 | 64271296 | TCACACA | T | intron_variant | MODIFIER | HG02717.hp2 HG03041.hp2 HG03195.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0302a0001c0001t0001g0303a0001c0001t0001g0304others(1): Show | 4 | 388 | 0.0103 | -6 | c.378 others(21): Show |
BAD | ENSG00000002330.14 | transcript | ENST00000309032.8 | protein_coding | 3/3 | chr11 | TogoVar | ||||||
| BAG3_chr10_119646380_119682819 | 119674975 | TCAAAAA | T | intron_variant | MODIFIER | HG02572.hp2 HG02717.hp1 NA18906.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0011a0001c0002t0001 | a0001c0001t0011g0233a0001c0002t0001g0188a0001c0002t0001g0192 | 3 | 420 | 0.0071 | -6 | c.910 others(23): Show |
BAG3 | ENSG00000151929.10 | transcript | ENST00000369085.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| BAG4_chr8_38171855_38218301 | 38201834 | TTATATA | T | intron_variant | MODIFIER | HG02132.hp2 HG02886.hp1 HG03017.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(1): Show | a0001c0001t0001g0168a0001c0001t0001g0302a0001c0001t0003g0100others(7): Show | 10 | 306 | 0.0327 | -6 | c.379 others(23): Show |
BAG4 | ENSG00000156735.11 | transcript | ENST00000287322.5 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| BAG4_chr8_38171855_38218301 | 38214233 | TTCTCTC | T | downstream_gene_variant | MODIFIER | HG02165.hp2 HG03540.hp2 NA19065.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0010a0001c0001t0002g0065a0001c0001t0010g0294 | 3 | 306 | 0.0098 | -6 | c.*37 others(17): Show |
BAG4 | ENSG00000156735.11 | transcript | ENST00000287322.5 | protein_coding | 933 | chr8 | TogoVar | ||||||
| BAG5_chr14_103551551_103567657 | 103554308 | GACCCCC | G | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00738.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002a0001c0001t0002g0048 | 7 | 410 | 0.0171 | -6 | c.*55 others(17): Show |
BAG5 | ENSG00000166170.12 | transcript | ENST00000299204.6 | protein_coding | 2242 | chr14 | TogoVar | ||||||
| BAG6_chr6_31634028_31657661 | 31652320 | AACACAC | A | intron_variant | MODIFIER | HG00735.hp1 HG01891.hp2 HG02109.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0067a0001c0001t0001g0068a0001c0001t0001g0092others(7): Show | 15 | 427 | 0.0351 | -6 | c.-14 others(20): Show |
BAG6 | ENSG00000204463.14 | transcript | ENST00000676615.2 | protein_coding | 1/25 | chr6 | TogoVar | ||||||
| BAHCC1_chr17_81390457_81471331 | 81399128 | AGTGTGT | A | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00438.hp2 others(39): Show |
a0001a0002a0003others(11): Show | a0001c0003a0001c0010a0001c0019others(18): Show | a0001c0003t0003a0001c0010t0009a0001c0019t0003others(25): Show | a0001c0003t0003g0184a0001c0003t0003g0186a0001c0003t0003g0259others(39): Show | 42 | 332 | 0.1265 | -6 | c.-20 others(23): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| BAHD1_chr15_40435953_40473236 | 40455861 | AGATACT | A | intron_variant | MODIFIER | HG00642.hp1 HG01891.hp1 HG02055.hp1 others(19): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0002a0001c0001t0004a0001c0008t0004 | a0001c0001t0002g0007a0001c0001t0002g0100a0001c0001t0004g0007others(12): Show | 22 | 372 | 0.0591 | -6 | c.-14 others(23): Show |
BAHD1 | ENSG00000140320.12 | transcript | ENST00000416165.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| BAIAP2L1_chr7_98286650_98406090 | 98335152 | CAAAAAA | C | intron_variant | MODIFIER | HG00323.hp2 HG00738.hp1 HG01069.hp1 others(36): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0004a0001c0001t0017a0001c0002t0002others(1): Show | a0001c0001t0004g0089a0001c0001t0004g0090a0001c0001t0004g0091others(36): Show | 39 | 298 | 0.1309 | -6 | c.215 others(25): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 3/13 | chr7 | TogoVar | ||||||
| BAIAP2L1_chr7_98286650_98406090 | 98343248 | TACACAC | T | intron_variant | MODIFIER | HG01169.hp1 HG02040.hp2 NA18953.hp2 others(1): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0003a0001c0004t0003 | a0001c0003t0003g0244a0001c0003t0003g0272a0001c0003t0003g0282others(1): Show | 4 | 298 | 0.0134 | -6 | c.214 others(25): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 3/13 | chr7 | TogoVar | ||||||
| BAIAP2_chr17_81030151_81122434 | 81109372 | TAAAAAA | T | intron_variant | MODIFIER | HG00280.hp2 HG01071.hp1 HG01074.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0003a0002c0002t0002a0002c0002t0021others(1): Show | a0001c0001t0003g0140a0002c0002t0002g0038a0002c0002t0002g0077others(9): Show | 12 | 376 | 0.0319 | -6 | c.153 others(23): Show |
BAIAP2 | ENSG00000175866.16 | transcript | ENST00000428708.7 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| BAIAP2_chr17_81030151_81122434 | 81114136 | ATTTTTT | A | intron_variant | MODIFIER | HG01167.hp2 HG02258.hp1 HG02723.hp1 others(4): Show |
a0001 | a0001c0004a0001c0011a0001c0016 | a0001c0004t0011a0001c0004t0014a0001c0011t0049others(1): Show | a0001c0004t0011g0028a0001c0004t0011g0317a0001c0004t0011g0319others(4): Show | 7 | 376 | 0.0186 | -6 | c.153 others(25): Show |
BAIAP2 | ENSG00000175866.16 | transcript | ENST00000428708.7 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| BANK1_chr4_101785730_102079812 | 101828383 | TTATATA | T | intron_variant | MODIFIER | HG02257.hp2 HG02486.hp1 HG02818.hp2 others(6): Show |
a0001a0006 | a0001c0002a0006c0007 | a0001c0002t0001a0001c0002t0003a0006c0007t0001others(1): Show | a0001c0002t0001g0238a0001c0002t0003g0215a0006c0007t0001g0242others(6): Show | 9 | 284 | 0.0317 | -6 | c.71- others(21): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| BANK1_chr4_101785730_102079812 | 101847198 | AGTGTGT | A | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00558.hp1 others(119): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0012others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0019a0001c0001t0001g0021a0001c0001t0001g0023others(119): Show | 122 | 284 | 0.4296 | -6 | c.470 others(23): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| BANK1_chr4_101785730_102079812 | 101847736 | TACACAC | T | intron_variant | MODIFIER | HG00423.hp2 HG02074.hp2 HG02886.hp2 others(4): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0004 | a0001c0001t0001a0001c0001t0003a0002c0003t0003others(1): Show | a0001c0001t0001g0078a0001c0001t0001g0102a0001c0001t0001g0103others(4): Show | 7 | 284 | 0.0247 | -6 | c.470 others(23): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| BANK1_chr4_101785730_102079812 | 101852501 | TATACAC | T | intron_variant | MODIFIER | HG00544.hp1 HG00738.hp1 HG00741.hp2 others(28): Show |
a0003a0004a0005 | a0003c0004a0004c0005a0004c0009others(1): Show | a0003c0004t0001a0003c0004t0003a0004c0005t0001others(4): Show | a0003c0004t0001g0005a0003c0004t0001g0012a0003c0004t0001g0052others(28): Show | 31 | 284 | 0.1092 | -6 | c.470 others(23): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| BANK1_chr4_101785730_102079812 | 101901757 | TTTTTTG | T | intron_variant | MODIFIER | HG02257.hp2 HG02486.hp1 HG02723.hp1 others(7): Show |
a0006a0010 | a0006c0007a0006c0013a0010c0015 | a0006c0007t0001a0006c0007t0003a0006c0013t0003others(2): Show | a0006c0007t0001g0242a0006c0007t0001g0244a0006c0007t0001g0245others(7): Show | 10 | 284 | 0.0352 | -6 | c.100 others(25): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| BANK1_chr4_101785730_102079812 | 101947284 | AATATAT | A | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG00733.hp1 others(54): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0002c0003others(6): Show | a0001c0001t0002a0001c0002t0007a0002c0003t0001others(7): Show | a0001c0001t0002g0024a0001c0002t0007g0001a0002c0003t0001g0164others(54): Show | 57 | 284 | 0.2007 | -6 | c.120 others(27): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| BANK1_chr4_101785730_102079812 | 101950018 | GGTGTGT | G | intron_variant | MODIFIER | HG01346.hp1 HG01975.hp2 HG02257.hp1 others(2): Show |
a0001a0009 | a0001c0001a0001c0002a0009c0011 | a0001c0001t0003a0001c0002t0003a0009c0011t0001 | a0001c0001t0003g0027a0001c0001t0003g0140a0001c0002t0003g0215others(2): Show | 5 | 284 | 0.0176 | -6 | c.120 others(27): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| BANK1_chr4_101785730_102079812 | 101986839 | ATATGTG | A | intron_variant | MODIFIER | HG01243.hp1 HG02622.hp1 HG02647.hp2 others(6): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0006 | a0001c0001t0003a0001c0001t0004a0001c0002t0001others(2): Show | a0001c0001t0003g0138a0001c0001t0004g0216a0001c0002t0001g0170others(6): Show | 9 | 284 | 0.0317 | -6 | c.120 others(27): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| BANK1_chr4_101785730_102079812 | 102002544 | TACACAC | T | intron_variant | MODIFIER | HG00733.hp1 HG01070.hp1 HG01071.hp1 others(9): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(6): Show | a0001c0001t0001g0034a0001c0001t0001g0090a0001c0001t0002g0089others(9): Show | 12 | 284 | 0.0423 | -6 | c.120 others(27): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| BANK1_chr4_101785730_102079812 | 102007144 | TTTTATA | T | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(69): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0002a0001c0010others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0019a0001c0001t0001g0023a0001c0001t0001g0025others(69): Show | 72 | 284 | 0.2535 | -6 | c.120 others(27): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| BANK1_chr4_101785730_102079812 | 102007146 | TTATATA | T | intron_variant | MODIFIER | HG01952.hp2 HG02071.hp1 NA18612.hp2 others(6): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0021a0001c0001t0001g0029a0001c0001t0001g0030others(6): Show | 9 | 284 | 0.0317 | -6 | c.120 others(27): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| BANK1_chr4_101785730_102079812 | 102031950 | AGGAAAC | A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00597.hp2 others(87): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0010others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0066a0001c0001t0001g0093a0001c0001t0002g0024others(87): Show | 90 | 284 | 0.3169 | -6 | c.190 others(25): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 10/16 | chr4 | TogoVar | ||||||
| BANP_chr16_87946434_88082316 | 87969230 | TTTGTTG | T | intron_variant | MODIFIER | HG01109.hp1 HG01167.hp2 HG02572.hp2 others(7): Show |
a0001a0002 | a0001c0007a0001c0008a0001c0010others(2): Show | a0001c0007t0005a0001c0008t0001a0001c0010t0007others(2): Show | a0001c0007t0005g0108a0001c0007t0005g0112a0001c0007t0005g0113others(7): Show | 10 | 352 | 0.0284 | -6 | c.-68 others(23): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| BANP_chr16_87946434_88082316 | 88019598 | GATCTCA | G | intron_variant | MODIFIER | HG02622.hp2 HG03041.hp1 HG03831.hp2 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0315a0002c0003t0003g0318a0002c0003t0003g0331others(1): Show | 4 | 352 | 0.0114 | -6 | c.895 others(21): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 7/13 | chr16 | TogoVar | ||||||
| BARD1_chr2_214720646_214814683 | 214723984 | CGTGTGT | C | downstream_gene_variant | MODIFIER | HG00621.hp2 HG01069.hp2 HG01109.hp2 others(41): Show |
a0001a0002a0003others(8): Show | a0001c0003a0001c0004a0001c0019others(10): Show | a0001c0003t0002a0001c0003t0005a0001c0003t0031others(22): Show | a0001c0003t0002g0028a0001c0003t0002g0040a0001c0003t0002g0078others(37): Show | 44 | 362 | 0.1216 | -6 | c.*46 others(17): Show |
BARD1 | ENSG00000138376.11 | transcript | ENST00000260947.9 | protein_coding | 1661 | chr2 | TogoVar | ||||||
| BARD1_chr2_214720646_214814683 | 214751079 | CTGTGTG | C | intron_variant | MODIFIER | HG01256.hp2 HG01258.hp2 HG02155.hp2 others(2): Show |
a0001a0002a0003 | a0001c0004a0002c0001a0003c0005 | a0001c0004t0018a0002c0001t0001a0003c0005t0006 | a0001c0004t0018g0277a0002c0001t0001g0133a0002c0001t0001g0134others(2): Show | 5 | 362 | 0.0138 | -6 | c.167 others(25): Show |
BARD1 | ENSG00000138376.11 | transcript | ENST00000260947.9 | protein_coding | 7/10 | chr2 | TogoVar | ||||||
| BARHL1_chr9_132577606_132595252 | 132581538 | GCACACA | G | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp1 others(38): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0011others(21): Show | 41 | 472 | 0.0869 | -6 | c.-12 others(17): Show |
BARHL1 | ENSG00000125492.11 | transcript | ENST00000263610.7 | protein_coding | 1067 | chr9 | TogoVar | ||||||
| BARX2_chr11_129370848_129457279 | 129431984 | ATTTATT | A | intron_variant | MODIFIER | HG00438.hp1 HG00609.hp2 HG00621.hp1 others(92): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(11): Show | a0001c0001t0001g0017a0001c0001t0001g0023a0001c0001t0001g0024others(91): Show | 95 | 400 | 0.2375 | -6 | c.188 others(23): Show |
BARX2 | ENSG00000043039.7 | transcript | ENST00000281437.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| BASP1_chr5_17212631_17281834 | 17275944 | CCTCTCT | C | 3_prime_UTR_variant | MODIFIER | HG00733.hp2 HG01074.hp1 HG01358.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0014a0001c0001t0017others(4): Show | a0001c0001t0013g0131a0001c0001t0013g0132a0001c0001t0013g0204others(17): Show | 21 | 370 | 0.0568 | -6 | c.*65 others(13): Show |
BASP1 | ENSG00000176788.9 | transcript | ENST00000322611.4 | protein_coding | 2/2 | 65 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||
| BATF2_chr11_64982945_65001971 | 64991153 | ATTTTTT | A | intron_variant | MODIFIER | HG01243.hp1 HG01496.hp1 HG02723.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0019a0001c0001t0005g0027a0001c0001t0005g0036 | 6 | 404 | 0.0149 | -6 | c.142 others(23): Show |
BATF2 | ENSG00000168062.10 | transcript | ENST00000301887.9 | protein_coding | 2/2 | chr11 | TogoVar | ||||||
| BATF_chr14_75517469_75551992 | 75547177 | GTCTCCT | G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00558.hp1 others(183): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0007others(149): Show | 186 | 376 | 0.4947 | -6 | c.*50 others(15): Show |
BATF | ENSG00000156127.8 | transcript | ENST00000286639.8 | protein_coding | 186 | chr14 | TogoVar | ||||||
| BAX_chr19_48949875_48966798 | 48953836 | AAATAAT | A | upstream_gene_variant | MODIFIER | HG01433.hp2 HG02809.hp1 NA18983.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0038 | 3 | 418 | 0.0072 | -6 | c.-10 others(17): Show |
BAX | ENSG00000087088.21 | transcript | ENST00000345358.12 | protein_coding | 1038 | chr19 | TogoVar |