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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AUTS2_chr7_69593475_70798506 | 69876484 | GTATATAT others(23): Show |
G | intron_variant | MODIFIER | HG01884.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0062 a0001c0001t0010g0065 |
2 | 7 | 0.2857 | -30 | c.310 others(49): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70003231 | TATATATG others(23): Show |
T | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0001 | 1 | 76 | 0.0132 | -30 | c.522 others(51): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70224331 | GTACAATA others(23): Show |
G | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 11 | 0.0909 | -30 | c.660 others(49): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVEN_chr15_33861227_34044204 | 33933520 | CACACAGA others(23): Show |
C | intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0124 | 1 | 167 | 0.0060 | -30 | c.446 others(49): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVL9_chr7_32490489_32593726 | 32540871 | CTTTTTTT others(23): Show |
C | intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 2 | 0.5000 | -30 | c.94- others(45): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167876002 | CGTATATA others(23): Show |
C | downstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0041 | 1 | 115 | 0.0087 | -30 | c.*59 others(41): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1958 | chr2 | TogoVar | |||||||
B3GAT1_chr11_134373508_134417242 | 134403979 | TTCTTTAT others(23): Show |
T | intron_variant | MODIFIER | HG01256.hp1 HG01261.hp2 HG01934.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0017others(2): Show | a0001c0001t0001g0077 a0001c0001t0004g0228 a0001c0001t0004g0229 others(7): Show |
10 | 320 | 0.0313 | -30 | c.-28 others(49): Show |
B3GAT1 | ENSG00000109956.13 | transcript | ENST00000312527.9 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 82959021 | GGTGTGTG others(23): Show |
G | intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0006 | a0001c0006t0006 | a0001c0006t0006g0007 | 1 | 240 | 0.0042 | -30 | c.681 others(47): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 8/12 | chr17 | TogoVar | |||||||
B4GALNT3_chr12_454939_568509 | 456435 | CAGATATA others(23): Show |
C | upstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0007 | 1 | 44 | 0.0227 | -30 | c.-39 others(41): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 3503 | chr12 | TogoVar | |||||||
B4GALNT3_chr12_454939_568509 | 511013 | CTTTTTTT others(23): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01081.hp2 HG01934.hp2 others(39): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0010others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0020 a0001c0001t0001g0089 a0001c0001t0001g0100 others(39): Show |
42 | 81 | 0.5185 | -30 | c.170 others(49): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33108889 | TTTTTGTT others(23): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(175): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(28): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(166): Show |
178 | 364 | 0.4890 | -30 | c.*45 others(41): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 1752 | chr9 | TogoVar | |||||||
B4GALT2_chr1_43974210_43996168 | 43993034 | GTATTTAC others(23): Show |
G | downstream_gene_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0103 | 1 | 404 | 0.0025 | -30 | c.*25 others(41): Show |
B4GALT2 | ENSG00000117411.18 | transcript | ENST00000372324.6 | protein_coding | 1867 | chr1 | TogoVar | |||||||
BABAM2_chr2_27885729_28343901 | 28315421 | TTTTTCTT others(23): Show |
T | intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 21 | 0.0476 | -30 | c.108 others(51): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BAG4_chr8_38171855_38218301 | 38188638 | TATATACA others(23): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(298): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0009others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(288): Show |
301 | 304 | 0.9901 | -30 | c.271 others(47): Show |
BAG4 | ENSG00000156735.11 | transcript | ENST00000287322.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BAG4_chr8_38171855_38218301 | 38201862 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0059 | 1 | 301 | 0.0033 | -30 | c.379 others(47): Show |
BAG4 | ENSG00000156735.11 | transcript | ENST00000287322.5 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BAIAP2_chr17_81030151_81122434 | 81093078 | CCTGGGCT others(23): Show |
C | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0262 | 1 | 154 | 0.0065 | -30 | c.489 others(47): Show |
BAIAP2 | ENSG00000175866.16 | transcript | ENST00000428708.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BAIAP2_chr17_81030151_81122434 | 81119647 | AGTCACGG others(23): Show |
A | downstream_gene_variant | MODIFIER | HG00621.hp2 HG00673.hp1 HG00738.hp2 others(55): Show |
a0001 | a0001c0001a0001c0003a0001c0009 | a0001c0001t0004a0001c0001t0016a0001c0001t0022others(9): Show | a0001c0001t0004g0002 a0001c0001t0004g0012 a0001c0001t0004g0013 others(54): Show |
58 | 304 | 0.1908 | -30 | c.*38 others(41): Show |
BAIAP2 | ENSG00000175866.16 | transcript | ENST00000428708.7 | protein_coding | 2214 | chr17 | TogoVar | |||||||
BAIAP2_chr17_81030151_81122434 | 81119675 | CATGTCAC others(23): Show |
C | downstream_gene_variant | MODIFIER | HG01167.hp2 HG02258.hp1 HG02723.hp1 others(4): Show |
a0001 | a0001c0004a0001c0011a0001c0016 | a0001c0004t0011a0001c0004t0014a0001c0011t0049others(1): Show | a0001c0004t0011g0062 a0001c0004t0011g0351 a0001c0004t0011g0353 others(4): Show |
7 | 374 | 0.0187 | -30 | c.*38 others(41): Show |
BAIAP2 | ENSG00000175866.16 | transcript | ENST00000428708.7 | protein_coding | 2242 | chr17 | TogoVar | |||||||
BANF2_chr20_17694966_17740871 | 17736180 | TACCTCAC others(23): Show |
T | downstream_gene_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 | 1 | 398 | 0.0025 | -30 | c.*37 others(39): Show |
BANF2 | ENSG00000125888.15 | transcript | ENST00000246090.6 | protein_coding | 310 | chr20 | TogoVar | |||||||
BANK1_chr4_101785730_102079812 | 101986815 | ATATATGT others(23): Show |
A | intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 282 | 0.0035 | -30 | c.120 others(51): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BANP_chr16_87946434_88082316 | 87949725 | AACCTCCA others(23): Show |
A | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02257.hp2 HG02818.hp2 others(1): Show |
a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0007 a0001c0008t0001g0268 a0001c0008t0001g0269 |
4 | 350 | 0.0114 | -30 | c.-18 others(41): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 1708 | chr16 | TogoVar | |||||||
BANP_chr16_87946434_88082316 | 88019574 | GGCGTCCG others(23): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00735.hp1 HG00741.hp1 others(52): Show |
a0001a0002 | a0001c0002a0001c0005a0001c0014others(5): Show | a0001c0002t0002a0001c0005t0003a0001c0014t0001others(8): Show | a0001c0002t0002g0035 a0001c0002t0002g0042 a0001c0002t0002g0043 others(49): Show |
55 | 329 | 0.1672 | -30 | c.895 others(45): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BARD1_chr2_214720646_214814683 | 214751101 | GTGTGTGT others(23): Show |
G | intron_variant | MODIFIER | HG01074.hp2 HG02109.hp1 HG02622.hp2 others(4): Show |
a0001a0011 | a0001c0004a0011c0014 | a0001c0004t0009a0011c0014t0015 | a0001c0004t0009g0006 a0001c0004t0009g0117 a0011c0014t0015g0007 others(2): Show |
7 | 202 | 0.0347 | -30 | c.167 others(49): Show |
BARD1 | ENSG00000138376.11 | transcript | ENST00000260947.9 | protein_coding | 7/10 | chr2 | TogoVar | |||||||
BARD1_chr2_214720646_214814683 | 214751103 | GTGTGTGT others(23): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02257.hp1 HG02723.hp1 others(1): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0013a0001c0004t0009 | a0001c0002t0013g0266 a0001c0004t0009g0115 a0001c0004t0009g0116 others(1): Show |
4 | 345 | 0.0116 | -30 | c.167 others(49): Show |
BARD1 | ENSG00000138376.11 | transcript | ENST00000260947.9 | protein_coding | 7/10 | chr2 | TogoVar | |||||||
BBS9_chr7_33124564_33611069 | 33294332 | TCTATCTA others(23): Show |
T | intron_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0020 | a0001c0020t0002 | a0001c0020t0002g0069 | 1 | 266 | 0.0038 | -30 | c.101 others(51): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 9/22 | chr7 | TogoVar | |||||||
BBS9_chr7_33124564_33611069 | 33565781 | GTATATAT others(23): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00609.hp2 HG00733.hp2 others(28): Show |
a0001a0002a0004 | a0001c0001a0001c0010a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0113 a0001c0001t0001g0143 a0001c0001t0001g0162 others(28): Show |
31 | 86 | 0.3605 | -30 | c.252 others(51): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BCAP29_chr7_107575246_107625478 | 107578827 | CCAAGACG others(23): Show |
C | upstream_gene_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0256 | 1 | 396 | 0.0025 | -30 | c.-14 others(41): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 1418 | chr7 | TogoVar | |||||||
BCAS3_chr17_60672851_61397831 | 60754680 | TACACACA others(23): Show |
T | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0070 | 1 | 23 | 0.0435 | -30 | c.403 others(47): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61322800 | GAGAGAGA others(23): Show |
G | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0046 | 1 | 74 | 0.0135 | -30 | c.242 others(51): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60467624 | GTAATGGT others(23): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG01243.hp2 HG02135.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0021others(5): Show | a0001c0001t0001g0064 a0001c0001t0010g0056 a0001c0001t0021g0092 others(5): Show |
8 | 260 | 0.0308 | -30 | c.487 others(47): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60467645 | GTGGTGAT others(23): Show |
G | intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0197 | 1 | 236 | 0.0042 | -30 | c.487 others(47): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
BCL11B_chr14_99164287_99277197 | 99199675 | TGTGTGTG others(23): Show |
T | intron_variant | MODIFIER | HG02015.hp1 HG02683.hp2 NA18969.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0230 a0001c0001t0002g0055 a0001c0001t0006g0082 others(1): Show |
4 | 343 | 0.0117 | -30 | c.641 others(49): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 3/3 | chr14 | TogoVar | |||||||
BCL11B_chr14_99164287_99277197 | 99271298 | GCGCCGCT others(23): Show |
G | 5_prime_UTR_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0229 | 1 | 302 | 0.0033 | -30 | c.-11 others(38): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 1/4 | 81 | chr14 | TogoVar | ||||||
BCL2L13_chr22_17633757_17735855 | 17715122 | TTATATAT others(23): Show |
T | intron_variant | MODIFIER | HG01256.hp2 HG02723.hp2 HG03195.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0007a0001c0002t0001 | a0001c0001t0005g0161 a0001c0001t0007g0013 a0001c0001t0007g0014 others(1): Show |
4 | 268 | 0.0149 | -30 | c.601 others(49): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BCL2L13_chr22_17633757_17735855 | 17715144 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0248 | 1 | 283 | 0.0035 | -30 | c.601 others(49): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BCL2L13_chr22_17633757_17735855 | 17715152 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0009 | 1 | 286 | 0.0035 | -30 | c.601 others(49): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BCL2L14_chr12_12065939_12104695 | 12076099 | AGGGGAGG others(23): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00621.hp2 others(69): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(10): Show | a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0049 others(60): Show |
72 | 437 | 0.1648 | -30 | c.-7- others(45): Show |
BCL2L14 | ENSG00000121380.12 | transcript | ENST00000308721.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BCL2L1_chr20_31659458_31727868 | 31663176 | ACACACAC others(23): Show |
A | downstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 184 | 0.0054 | -30 | c.*27 others(41): Show |
BCL2L1 | ENSG00000171552.14 | transcript | ENST00000307677.5 | protein_coding | 1281 | chr20 | TogoVar | |||||||
BCL7A_chr12_122016884_122067044 | 122034190 | CATATATA others(23): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(87): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(35): Show | a0001c0001t0001g0001 a0001c0001t0001g0073 a0001c0001t0001g0103 others(85): Show |
90 | 99 | 0.9091 | -30 | c.175 others(47): Show |
BCL7A | ENSG00000110987.9 | transcript | ENST00000261822.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BCL7B_chr7_73531356_73562690 | 73548932 | AAAAAACA others(23): Show |
A | intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 282 | 0.0035 | -30 | c.168 others(47): Show |
BCL7B | ENSG00000106635.8 | transcript | ENST00000223368.7 | protein_coding | 2/5 | chr7 | TogoVar | |||||||
BCL9_chr1_147536501_147631216 | 147541070 | TGAGAGAG others(23): Show |
T | upstream_gene_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0067 | 1 | 152 | 0.0066 | -30 | c.-10 others(41): Show |
BCL9 | ENSG00000116128.12 | transcript | ENST00000234739.8 | protein_coding | 430 | chr1 | TogoVar | |||||||
BCO1_chr16_81233689_81296142 | 81235171 | TATATATA others(23): Show |
T | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02056.hp2 NA18978.hp1 others(1): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0003 | a0001c0001t0001a0001c0005t0001a0003c0003t0001 | a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0005t0001g0031 others(1): Show |
4 | 399 | 0.0100 | -30 | c.-37 others(41): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 3517 | chr16 | TogoVar | |||||||
BDKRB1_chr14_96251210_96269763 | 96252495 | GCAGCTGG others(23): Show |
G | upstream_gene_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 442 | 0.0023 | -30 | c.-39 others(41): Show |
BDKRB1 | ENSG00000100739.11 | transcript | ENST00000216629.11 | protein_coding | 3714 | chr14 | TogoVar | |||||||
BECN2_chr1_241952767_241964062 | 241957039 | CTGTGTGT others(23): Show |
C | upstream_gene_variant | MODIFIER | HG01934.hp1 HG02258.hp2 HG03471.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0000 a0002c0002t0001g0000 |
16 | 243 | 0.0658 | -30 | c.-72 others(39): Show |
BECN2 | ENSG00000196289.7 | transcript | ENST00000419583.2 | protein_coding | 727 | chr1 | TogoVar | |||||||
BEND3_chr6_107060182_107120515 | 107073197 | GTATGTAT others(23): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG02630.hp1 HG02886.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0005a0001c0001t0054a0001c0006t0049 | a0001c0001t0005g0125 a0001c0001t0054g0063 a0001c0006t0049g0134 |
3 | 171 | 0.0175 | -30 | c.241 others(47): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
BEND3_chr6_107060182_107120515 | 107073201 | GTATATAT others(23): Show |
G | intron_variant | MODIFIER | NA18978.hp1 NA19062.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0025a0001c0002t0001 | a0001c0001t0025g0149 a0001c0002t0001g0190 |
2 | 224 | 0.0089 | -30 | c.241 others(47): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
BEST4_chr1_44778585_44793170 | 44792520 | AAAGTGCT others(23): Show |
A | upstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 388 | 0.0026 | -30 | c.-48 others(41): Show |
BEST4 | ENSG00000142959.5 | transcript | ENST00000372207.4 | protein_coding | 4351 | chr1 | TogoVar | |||||||
BEX1_chrX_103057651_103069171 | 103059994 | CTCTCTCT others(23): Show |
C | downstream_gene_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 337 | 0.0030 | -30 | c.*28 others(41): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 2656 | chrX | TogoVar | |||||||
BEX5_chrX_102148712_102160977 | 102158102 | TTTCTTCT others(23): Show |
T | upstream_gene_variant | MODIFIER | HG00280.hp1 HG01175.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 2 | 303 | 0.0066 | -30 | c.-23 others(41): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 2126 | chrX | TogoVar | |||||||
BEX5_chrX_102148712_102160977 | 102158135 | CTTCTTCT others(23): Show |
C | upstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 314 | 0.0032 | -30 | c.-24 others(41): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 2159 | chrX | TogoVar |