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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATR_chr3_142444235_142583733 | 142496278 | CTATATAT others(31): Show |
C | intron_variant | MODIFIER | HG01074.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0289 | 1 | 22 | 0.0455 | -38 | c.589 others(53): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 34/46 | chr3 | TogoVar | |||||||
AUTS2_chr7_69593475_70798506 | 69876484 | GTATATAT others(31): Show |
G | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0039 | 1 | 6 | 0.1667 | -38 | c.310 others(57): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70750443 | GCCTCCAC others(31): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(42): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0034 others(42): Show |
45 | 76 | 0.5921 | -38 | c.743 others(57): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32579456 | TATTATAT others(31): Show |
T | intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0108 | a0001c0001t0108g0223 | 1 | 328 | 0.0030 | -38 | c.168 others(55): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVPI1_chr10_97672424_97692241 | 97678880 | GGTGTGTG others(31): Show |
G | intron_variant | MODIFIER | NA18994.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0004 | 1 | 171 | 0.0058 | -38 | c.287 others(53): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 2/2 | chr10 | TogoVar | |||||||
B3GALT1_chr2_167288001_167879045 | 167330111 | TAACCCTT others(31): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02922.hp1 HG03225.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011a0001c0001t0013others(1): Show | a0001c0001t0002g0094 a0001c0001t0011g0092 a0001c0001t0013g0091 others(1): Show |
4 | 116 | 0.0345 | -38 | c.-51 others(59): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
B3GALT1_chr2_167288001_167879045 | 167512583 | TATATATA others(31): Show |
T | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0044 | 1 | 116 | 0.0086 | -38 | c.-41 others(59): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | chr2 | TogoVar | |||||||
B3GALT5_chr21_39607940_39678137 | 39611620 | CACTTGAT others(31): Show |
C | upstream_gene_variant | MODIFIER | HG02486.hp1 | a0002 | a0002c0002 | a0002c0002t0019 | a0002c0002t0019g0288 | 1 | 334 | 0.0030 | -38 | c.-18 others(49): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1319 | chr21 | TogoVar | |||||||
B3GNT5_chr3_183248253_183278385 | 183269368 | TAACTACC others(31): Show |
T | intron_variant | MODIFIER | HG02040.hp1 NA18970.hp1 NA19007.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0034 a0001c0001t0001g0100 a0001c0001t0001g0140 others(1): Show |
5 | 388 | 0.0129 | -38 | c.-30 others(54): Show |
B3GNT5 | ENSG00000176597.12 | transcript | ENST00000326505.4 | protein_coding | 1/1 | chr3 | TogoVar | |||||||
B3GNT6_chr11_77029398_77046973 | 77032642 | TATATATA others(31): Show |
T | upstream_gene_variant | MODIFIER | HG02886.hp2 HG03579.hp2 |
a0002 | a0002c0003 | a0002c0003t0006a0002c0003t0010 | a0002c0003t0006g0006 a0002c0003t0010g0019 |
2 | 440 | 0.0045 | -38 | c.-18 others(49): Show |
B3GNT6 | ENSG00000198488.10 | transcript | ENST00000622824.1 | protein_coding | 1755 | chr11 | TogoVar | |||||||
B3GNT6_chr11_77029398_77046973 | 77032670 | TATATATA others(31): Show |
T | upstream_gene_variant | MODIFIER | HG02895.hp1 HG02897.hp1 HG03041.hp1 others(3): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0005c0006 | a0001c0001t0007a0002c0003t0004a0002c0003t0006others(1): Show | a0001c0001t0007g0011 a0002c0003t0004g0004 a0002c0003t0004g0046 others(3): Show |
6 | 432 | 0.0139 | -38 | c.-18 others(49): Show |
B3GNT6 | ENSG00000198488.10 | transcript | ENST00000622824.1 | protein_coding | 1727 | chr11 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 82972037 | CCACACCA others(31): Show |
C | intron_variant | MODIFIER | NA18983.hp2 NA19062.hp1 |
a0001 | a0001c0002a0001c0006 | a0001c0002t0010a0001c0006t0010 | a0001c0002t0010g0133 a0001c0006t0010g0011 |
2 | 266 | 0.0075 | -38 | c.460 others(55): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83015192 | GGGGGACC others(31): Show |
G | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0018 | 1 | 266 | 0.0038 | -38 | c.298 others(53): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83039378 | GTTCTAGA others(31): Show |
G | intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0247 | 1 | 256 | 0.0039 | -38 | c.233 others(55): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 3/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83047830 | CTACCAAA others(31): Show |
C | intron_variant | MODIFIER | HG00621.hp2 HG02080.hp2 NA19010.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0027 | a0001c0001t0002g0173 a0001c0001t0002g0179 a0001c0001t0027g0181 |
3 | 266 | 0.0113 | -38 | c.232 others(53): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 3/12 | chr17 | TogoVar | |||||||
B4GALNT3_chr12_454939_568509 | 512187 | CCTTCCGC others(31): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG01433.hp2 NA20905.hp2 |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0049 | a0001c0001t0005a0002c0003t0006a0003c0049t0002 | a0001c0001t0005g0007 a0002c0003t0006g0046 a0003c0049t0002g0091 |
3 | 392 | 0.0077 | -38 | c.170 others(57): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 377581 | CTTGCACC others(31): Show |
C | intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 182 | 0.0055 | -38 | c.220 others(55): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 14/19 | chr11 | TogoVar | |||||||
B4GALNT4_chr11_364499_387117 | 383354 | CTTTGCCA others(31): Show |
C | downstream_gene_variant | MODIFIER | HG00733.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0082 | 1 | 182 | 0.0055 | -38 | c.*15 others(49): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 1238 | chr11 | TogoVar | |||||||
B4GALNT4_chr11_364499_387117 | 384901 | ACACAGCT others(31): Show |
A | downstream_gene_variant | MODIFIER | HG02040.hp1 HG04199.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 a0001c0001t0001g0113 |
2 | 110 | 0.0182 | -38 | c.*31 others(49): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 2785 | chr11 | TogoVar | |||||||
B9D2_chr19_41349417_41369149 | 41366735 | AGGCATGA others(31): Show |
A | upstream_gene_variant | MODIFIER | HG01934.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0006 | 1 | 358 | 0.0028 | -38 | c.-28 others(49): Show |
B9D2 | ENSG00000123810.9 | transcript | ENST00000243578.8 | protein_coding | 2587 | chr19 | TogoVar | |||||||
BAHCC1_chr17_81390457_81471331 | 81416011 | TGTGTGTG others(31): Show |
T | intron_variant | MODIFIER | HG02886.hp1 HG03139.hp2 NA19030.hp1 |
a0001a0019 | a0001c0001a0019c0030 | a0001c0001t0001a0019c0030t0007 | a0001c0001t0001g0274 a0019c0030t0007g0032 a0019c0030t0007g0239 |
3 | 328 | 0.0091 | -38 | c.179 others(57): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BAMBI_chr10_28672521_28687932 | 28685652 | TTTTTTCC others(31): Show |
T | downstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0001 | 1 | 434 | 0.0023 | -38 | c.*32 others(49): Show |
BAMBI | ENSG00000095739.11 | transcript | ENST00000375533.6 | protein_coding | 2721 | chr10 | TogoVar | |||||||
BATF2_chr11_64982945_65001971 | 64983522 | TTATATTT others(31): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG00735.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0018 others(6): Show |
30 | 344 | 0.0872 | -38 | c.*55 others(49): Show |
BATF2 | ENSG00000168062.10 | transcript | ENST00000301887.9 | protein_coding | 4422 | chr11 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159324625 | TACACACA others(31): Show |
T | intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0170 | 1 | 79 | 0.0127 | -38 | c.635 others(55): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 36/36 | chr2 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159325041 | TATTATAT others(31): Show |
T | intron_variant | MODIFIER | HG00673.hp2 HG01192.hp1 HG02572.hp1 others(18): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0008a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0029 a0001c0001t0001g0044 a0001c0001t0001g0095 others(18): Show |
21 | 142 | 0.1479 | -38 | c.621 others(54): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 35/36 | chr2 | TogoVar | |||||||
BBX_chr3_107517962_107816339 | 107638780 | TACACACA others(31): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG02615.hp2 HG03453.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0016 | a0001c0001t0001g0169 a0001c0001t0002g0141 a0001c0001t0002g0142 others(2): Show |
5 | 27 | 0.1852 | -38 | c.-83 others(55): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60507345 | AAGGGAAG others(31): Show |
A | intron_variant | MODIFIER | HG01167.hp1 NA19240.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0013a0001c0001t0056 | a0001c0001t0005g0232 a0001c0001t0013g0247 a0001c0001t0056g0195 |
3 | 244 | 0.0123 | -38 | c.386 others(57): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 2/3 | chr2 | TogoVar | |||||||
BCL2L13_chr22_17633757_17735855 | 17715136 | ATATATAT others(31): Show |
A | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0035 | 1 | 304 | 0.0033 | -38 | c.601 others(57): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BCR_chr22_23175509_23323037 | 23262089 | GCCATCAC others(31): Show |
G | intron_variant | MODIFIER | HG01993.hp2 | a0003 | a0003c0008 | a0003c0008t0004 | a0003c0008t0004g0086 | 1 | 294 | 0.0034 | -38 | c.175 others(55): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BEGAIN_chr14_100532147_100592417 | 100573172 | AGGTGAGT others(31): Show |
A | intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0098 | 1 | 321 | 0.0031 | -38 | c.43- others(53): Show |
BEGAIN | ENSG00000183092.18 | transcript | ENST00000554140.3 | protein_coding | 1/6 | chr14 | TogoVar | |||||||
BEGAIN_chr14_100532147_100592417 | 100573242 | GGGGGCTG others(31): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02258.hp2 HG02280.hp2 others(21): Show |
a0001 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0008t0001others(1): Show | a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 others(19): Show |
24 | 324 | 0.0741 | -38 | c.43- others(53): Show |
BEGAIN | ENSG00000183092.18 | transcript | ENST00000554140.3 | protein_coding | 1/6 | chr14 | TogoVar | |||||||
BEND3_chr6_107060182_107120515 | 107073197 | GTATGTAT others(31): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG01167.hp2 HG01516.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0002g0072 a0001c0001t0002g0262 a0001c0001t0003g0320 others(7): Show |
10 | 178 | 0.0562 | -38 | c.241 others(55): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
BEND3_chr6_107060182_107120515 | 107073201 | GTATATAT others(31): Show |
G | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01261.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001a0001c0002t0006others(1): Show | a0001c0001t0002g0251 a0001c0002t0001g0009 a0001c0002t0001g0250 others(4): Show |
8 | 230 | 0.0348 | -38 | c.241 others(55): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
BFSP2_chr3_133395056_133480208 | 133446570 | TTATATAT others(31): Show |
T | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01081.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0004 a0001c0001t0001g0036 a0001c0001t0001g0266 others(2): Show |
6 | 35 | 0.1714 | -38 | c.490 others(53): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BID_chr22_17729138_17779469 | 17756450 | TCTTTCTT others(31): Show |
T | intron_variant | MODIFIER | HG02717.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0168 | 1 | 360 | 0.0028 | -38 | c.-58 others(55): Show |
BID | ENSG00000015475.19 | transcript | ENST00000622694.5 | protein_coding | 1/5 | chr22 | TogoVar | |||||||
BLOC1S2_chr10_100268293_100291680 | 100276327 | CTCTCTCC others(31): Show |
C | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0170 | 1 | 376 | 0.0027 | -38 | c.398 others(53): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 4/4 | chr10 | TogoVar | |||||||
BLOC1S2_chr10_100268293_100291680 | 100276375 | GTCTCCCT others(31): Show |
G | intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 356 | 0.0028 | -38 | c.398 others(53): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 4/4 | chr10 | TogoVar | |||||||
BMAL2_chr12_27327836_27430286 | 27341138 | ACTATGTT others(31): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00639.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0185 others(17): Show |
20 | 308 | 0.0649 | -38 | c.31+ others(53): Show |
BMAL2 | ENSG00000029153.15 | transcript | ENST00000266503.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 34024384 | AATATATA others(31): Show |
A | intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0074 | 1 | 24 | 0.0417 | -38 | c.577 others(57): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 34129600 | GAGAGAGA others(31): Show |
G | intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0132 | 1 | 220 | 0.0045 | -38 | c.174 others(59): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BNIP1_chr5_173139531_173169387 | 173165568 | CTAATGGA others(31): Show |
C | downstream_gene_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0090 | 1 | 350 | 0.0029 | -38 | c.*16 others(49): Show |
BNIP1 | ENSG00000113734.18 | transcript | ENST00000351486.10 | protein_coding | 1182 | chr5 | TogoVar | |||||||
BNIP5_chr6_36310761_36341888 | 36324575 | TTATATAT others(31): Show |
T | intron_variant | MODIFIER | HG02559.hp2 HG02976.hp2 HG04228.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0101 a0001c0001t0002g0003 a0001c0001t0004g0058 others(1): Show |
5 | 46 | 0.1087 | -38 | c.116 others(55): Show |
BNIP5 | ENSG00000189325.7 | transcript | ENST00000437635.3 | protein_coding | 6/11 | chr6 | TogoVar | |||||||
BOC_chr3_113206557_113292459 | 113236266 | GTATATAT others(31): Show |
G | intron_variant | MODIFIER | HG01106.hp1 HG01891.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0109 a0001c0001t0006g0193 |
2 | 162 | 0.0123 | -38 | c.-81 others(57): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BOP1_chr8_144257045_144296438 | 144269658 | AATCCTGC others(31): Show |
A | intron_variant | MODIFIER | NA18946.hp2 | a0014 | a0014c0023 | a0014c0023t0001 | a0014c0023t0001g0126 | 1 | 396 | 0.0025 | -38 | c.391 others(55): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 3/15 | chr8 | TogoVar | |||||||
BRDT_chr1_91944401_92019421 | 91945279 | AATATATA others(31): Show |
A | upstream_gene_variant | MODIFIER | HG00597.hp2 HG01261.hp2 HG01993.hp2 others(4): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0005c0005t0002 | a0001c0001t0001g0009 a0001c0001t0001g0252 a0001c0001t0001g0253 others(3): Show |
7 | 115 | 0.0609 | -38 | c.-44 others(49): Show |
BRDT | ENSG00000137948.19 | transcript | ENST00000399546.7 | protein_coding | 4121 | chr1 | TogoVar | |||||||
BRSK1_chr19_55278997_55317562 | 55286040 | TGGGGGTC others(31): Show |
T | intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0028 | 1 | 137 | 0.0073 | -38 | c.137 others(53): Show |
BRSK1 | ENSG00000160469.17 | transcript | ENST00000309383.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BSPRY_chr9_113344541_113376222 | 113357886 | CTATATAT others(31): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp1 others(36): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0005c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(12): Show | a0001c0001t0001g0166 a0001c0001t0002g0004 a0001c0001t0005g0046 others(31): Show |
39 | 78 | 0.5000 | -38 | c.301 others(55): Show |
BSPRY | ENSG00000119411.11 | transcript | ENST00000374183.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
BTBD2_chr19_1980448_2020714 | 1988584 | AGACGGAG others(31): Show |
A | intron_variant | MODIFIER | NA20905.hp1 | a0002 | a0002c0005 | a0002c0005t0027 | a0002c0005t0027g0068 | 1 | 360 | 0.0028 | -38 | c.989 others(53): Show |
BTBD2 | ENSG00000133243.10 | transcript | ENST00000255608.9 | protein_coding | 5/8 | chr19 | TogoVar | |||||||
BTBD7_chr14_93232550_93338036 | 93300704 | TTGTGTGT others(31): Show |
T | intron_variant | MODIFIER | NA18968.hp2 NA19060.hp1 |
a0003 | a0003c0003 | a0003c0003t0029 | a0003c0003t0029g0132 a0003c0003t0029g0134 |
2 | 182 | 0.0110 | -38 | c.-10 others(57): Show |
BTBD7 | ENSG00000011114.15 | transcript | ENST00000334746.10 | protein_coding | 1/10 | chr14 | TogoVar | |||||||
BTBD7_chr14_93232550_93338036 | 93300736 | GTGTGTGT others(31): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp2 HG02257.hp1 others(15): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0007a0001c0001t0011a0001c0001t0015others(3): Show | a0001c0001t0007g0253 a0001c0001t0007g0254 a0001c0001t0007g0262 others(15): Show |
18 | 374 | 0.0481 | -38 | c.-10 others(57): Show |
BTBD7 | ENSG00000011114.15 | transcript | ENST00000334746.10 | protein_coding | 1/10 | chr14 | TogoVar |