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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BEX1_chrX_103057651_103069171 | 103060012 | CTCTCTAT others(7): Show |
C | downstream_gene_variant | MODIFIER | HG02004.hp1 HG02148.hp2 HG02273.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(3): Show | 9 | 339 | 0.0266 | -14 | c.*28 others(25): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 2638 | chrX | TogoVar | ||||||
BEX1_chrX_103057651_103069171 | 103060014 | CTCTATAT others(7): Show |
C | downstream_gene_variant | MODIFIER | HG01975.hp2 HG02004.hp2 HG02273.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(1): Show | 8 | 339 | 0.0236 | -14 | c.*28 others(25): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 2636 | chrX | TogoVar | ||||||
BEX1_chrX_103057651_103069171 | 103060016 | CTATATAT others(7): Show |
C | downstream_gene_variant | MODIFIER | HG00597.hp1 HG00733.hp1 HG02559.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0002g0004 | 4 | 339 | 0.0118 | -14 | c.*28 others(25): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 2634 | chrX | TogoVar | ||||||
BEX1_chrX_103057651_103069171 | 103066003 | ATGTGTGT others(7): Show |
A | upstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 339 | 0.0030 | -14 | c.-20 others(25): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 1833 | chrX | TogoVar | ||||||
BEX5_chrX_102148712_102160977 | 102153606 | CATATATA others(7): Show |
C | downstream_gene_variant | MODIFIER | HG00733.hp1 HG02015.hp1 HG02683.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0002g0004 | 7 | 324 | 0.0216 | -14 | c.*31 others(23): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 105 | chrX | TogoVar | ||||||
BFSP1_chr20_17488905_17536379 | 17497567 | TATATGTA others(7): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG01975.hp2 HG02055.hp2 others(9): Show |
a0001a0003a0008others(1): Show | a0001c0003a0003c0007a0008c0020others(1): Show | a0001c0003t0001a0003c0007t0002a0008c0020t0002others(1): Show | a0001c0003t0001g0119a0001c0003t0001g0145a0001c0003t0001g0255others(8): Show | 12 | 396 | 0.0303 | -14 | c.957 others(29): Show |
BFSP1 | ENSG00000125864.14 | transcript | ENST00000377873.8 | protein_coding | 6/7 | chr20 | TogoVar | ||||||
BFSP1_chr20_17488905_17536379 | 17507272 | GGTGTGTG others(7): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG01167.hp1 HG02258.hp1 others(4): Show |
a0001 | a0001c0003a0001c0005 | a0001c0003t0001a0001c0005t0004 | a0001c0003t0001g0300a0001c0003t0001g0301a0001c0005t0004g0142others(4): Show | 7 | 396 | 0.0177 | -14 | c.735 others(31): Show |
BFSP1 | ENSG00000125864.14 | transcript | ENST00000377873.8 | protein_coding | 5/7 | chr20 | TogoVar | ||||||
BFSP2_chr3_133395056_133480208 | 133446570 | TTATATAT others(7): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00621.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0025a0001c0001t0001g0042a0001c0001t0001g0045others(18): Show | 21 | 276 | 0.0761 | -14 | c.490 others(29): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BGN_chrX_153489980_153514546 | 153509051 | CTCTCTCT others(7): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0068 | a0001c0001t0068g0144 | 1 | 321 | 0.0031 | -14 | c.*60 others(23): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 8/8 | 608 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
BHLHA9_chr17_1265444_1276815 | 1266255 | AGGATGAC others(7): Show |
A | upstream_gene_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0000 | 1 | 442 | 0.0023 | -14 | c.-43 others(25): Show |
BHLHA9 | ENSG00000205899.4 | transcript | ENST00000391429.2 | protein_coding | 4188 | chr17 | TogoVar | ||||||
BHMT_chr5_79106809_79137288 | 79137198 | TATATATA others(7): Show |
T | downstream_gene_variant | MODIFIER | HG01123.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0229 | 1 | 432 | 0.0023 | -14 | c.*60 others(25): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 4911 | chr5 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58592875 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG03098.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0004 | a0001c0001t0005g0014a0002c0002t0004g0015 | 2 | 132 | 0.0152 | -14 | c.191 others(33): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BICC1_chr10_58507872_58836435 | 58638857 | TTCTTTTT others(7): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG00621.hp2 HG00735.hp2 others(41): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0068a0001c0001t0001g0083a0001c0001t0001g0089others(41): Show | 44 | 132 | 0.3333 | -14 | c.237 others(33): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BICC1_chr10_58507872_58836435 | 58663054 | CTTTTTCT others(7): Show |
C | intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 132 | 0.0076 | -14 | c.238 others(33): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BICC1_chr10_58507872_58836435 | 58732371 | GTGTGTAT others(7): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG01109.hp1 HG02896.hp1 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0005a0002c0002t0017a0003c0004t0014others(1): Show | a0001c0001t0005g0014a0002c0002t0017g0026a0003c0004t0014g0066others(2): Show | 5 | 132 | 0.0379 | -14 | c.307 others(33): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BICC1_chr10_58507872_58836435 | 58732379 | GTATATAT others(7): Show |
G | intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0059 | 1 | 132 | 0.0076 | -14 | c.307 others(33): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BICC1_chr10_58507872_58836435 | 58779658 | AGTGACTT others(7): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG00639.hp1 others(55): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0081a0001c0001t0001g0083a0001c0001t0001g0087others(55): Show | 58 | 132 | 0.4394 | -14 | c.308 others(31): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BICC1_chr10_58507872_58836435 | 58816745 | CTGTGTGT others(7): Show |
C | intron_variant | MODIFIER | HG02572.hp2 | a0002 | a0002c0003 | a0002c0003t0026 | a0002c0003t0026g0047 | 1 | 132 | 0.0076 | -14 | c.253 others(31): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BICD1_chr12_32101847_32388633 | 32116478 | CTCTCTCT others(7): Show |
C | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0086 | 1 | 290 | 0.0035 | -14 | c.213 others(31): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICD1_chr12_32101847_32388633 | 32171940 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(52): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(21): Show | a0001c0001t0001g0038a0001c0001t0001g0059a0001c0001t0001g0089others(52): Show | 55 | 290 | 0.1897 | -14 | c.214 others(33): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICD1_chr12_32101847_32388633 | 32198323 | CATCTATC others(7): Show |
C | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0246 | 1 | 290 | 0.0035 | -14 | c.214 others(33): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICD1_chr12_32101847_32388633 | 32203772 | GTCTCTTC others(7): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00558.hp1 others(71): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(30): Show | a0001c0001t0001g0255a0001c0001t0001g0258a0001c0001t0001g0276others(71): Show | 74 | 290 | 0.2552 | -14 | c.214 others(33): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICD1_chr12_32101847_32388633 | 32282199 | CTTCTTTT others(7): Show |
C | intron_variant | MODIFIER | HG04184.hp2 NA18969.hp1 NA18994.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0212a0001c0002t0002g0215a0001c0002t0002g0241 | 3 | 290 | 0.0103 | -14 | c.427 others(33): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICD1_chr12_32101847_32388633 | 32282202 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01169.hp1 HG02300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0038a0001c0001t0001g0276a0001c0001t0011g0254 | 3 | 290 | 0.0103 | -14 | c.427 others(33): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICD1_chr12_32101847_32388633 | 32282684 | CAACCTTT others(7): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02622.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0018 | a0001c0001t0006g0162a0001c0001t0018g0219a0001c0001t0018g0227 | 3 | 290 | 0.0103 | -14 | c.427 others(33): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 2/9 | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32284419 | TATTGTTA others(7): Show |
T | intron_variant | MODIFIER | NA18944.hp2 NA18948.hp2 NA18968.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005a0001c0002t0021 | a0001c0002t0002g0282a0001c0002t0005g0248a0001c0002t0021g0169others(1): Show | 4 | 290 | 0.0138 | -14 | c.427 others(31): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICD1_chr12_32101847_32388633 | 32348723 | AATATATA others(7): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01069.hp1 HG01109.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0049a0001c0001t0001g0174a0001c0001t0001g0184others(17): Show | 20 | 290 | 0.0690 | -14 | c.276 others(33): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICD2_chr9_92706363_92769833 | 92727738 | GTCCCCAC others(7): Show |
G | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0187 | 1 | 360 | 0.0028 | -14 | c.453 others(31): Show |
BICD2 | ENSG00000185963.14 | transcript | ENST00000356884.11 | protein_coding | 2/6 | chr9 | TogoVar | ||||||
BICD2_chr9_92706363_92769833 | 92757312 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG03579.hp2 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0110 | 1 | 360 | 0.0028 | -14 | c.240 others(31): Show |
BICD2 | ENSG00000185963.14 | transcript | ENST00000356884.11 | protein_coding | 1/6 | chr9 | TogoVar | ||||||
BICRAL_chr6_42777052_42873556 | 42779221 | AAAACACA others(7): Show |
A | upstream_gene_variant | MODIFIER | HG02723.hp2 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0225a0001c0001t0003g0224 | 2 | 270 | 0.0074 | -14 | c.-29 others(25): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 2830 | chr6 | TogoVar | ||||||
BICRAL_chr6_42777052_42873556 | 42779223 | AACACACA others(7): Show |
A | upstream_gene_variant | MODIFIER | HG00733.hp2 HG01516.hp2 NA19010.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0199others(1): Show | 4 | 270 | 0.0148 | -14 | c.-29 others(25): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 2828 | chr6 | TogoVar | ||||||
BICRAL_chr6_42777052_42873556 | 42794411 | CTGTGTGT others(7): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG00741.hp1 HG01123.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0156a0001c0001t0001g0196a0001c0001t0001g0198others(7): Show | 10 | 270 | 0.0370 | -14 | c.-10 others(35): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BICRAL_chr6_42777052_42873556 | 42845195 | GTTTTTTT others(7): Show |
G | intron_variant | MODIFIER | HG00621.hp2 HG01169.hp1 HG01361.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0005a0002c0003t0004others(1): Show | a0001c0001t0001g0051a0001c0001t0001g0055a0001c0001t0001g0100others(6): Show | 9 | 270 | 0.0333 | -14 | c.184 others(33): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BICRA_chr19_47604134_47708277 | 47659685 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG03041.hp1 HG03225.hp2 others(2): Show |
a0001a0003 | a0001c0003a0003c0004 | a0001c0003t0004a0003c0004t0004 | a0001c0003t0004g0009a0001c0003t0004g0010a0001c0003t0004g0011others(2): Show | 5 | 312 | 0.0160 | -14 | c.-10 others(35): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
BICRA_chr19_47604134_47708277 | 47685741 | CTGTGTGT others(7): Show |
C | intron_variant | MODIFIER | HG03490.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080a0001c0001t0001g0081 | 2 | 312 | 0.0064 | -14 | c.228 others(33): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
BID_chr22_17729138_17779469 | 17731100 | CTTTTTTT others(7): Show |
C | downstream_gene_variant | MODIFIER | HG02572.hp2 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0323a0001c0001t0008g0324 | 2 | 362 | 0.0055 | -14 | c.*44 others(25): Show |
BID | ENSG00000015475.19 | transcript | ENST00000622694.5 | protein_coding | 3037 | chr22 | TogoVar | ||||||
BID_chr22_17729138_17779469 | 17756396 | TTCTTTTC others(7): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02280.hp2 HG02622.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0010a0001c0001t0001g0098a0001c0001t0001g0130others(9): Show | 12 | 362 | 0.0332 | -14 | c.-58 others(31): Show |
BID | ENSG00000015475.19 | transcript | ENST00000622694.5 | protein_coding | 1/5 | chr22 | TogoVar | ||||||
BIK_chr22_43105750_43134712 | 43130417 | CTTTTTTT others(7): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(141): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(63): Show | 144 | 386 | 0.3731 | -14 | c.*11 others(25): Show |
BIK | ENSG00000100290.3 | transcript | ENST00000216115.3 | protein_coding | 706 | chr22 | TogoVar | ||||||
BIN1_chr2_127043032_127112154 | 127044047 | CTTCACAC others(7): Show |
C | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00673.hp2 HG01123.hp1 others(34): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0003a0001c0003t0001a0001c0003t0002others(4): Show | a0001c0001t0003g0172a0001c0003t0001g0012a0001c0003t0001g0067others(33): Show | 37 | 344 | 0.1076 | -14 | c.*44 others(25): Show |
BIN1 | ENSG00000136717.15 | transcript | ENST00000316724.10 | protein_coding | 3984 | chr2 | TogoVar | ||||||
BIN1_chr2_127043032_127112154 | 127044078 | CTCACACC others(7): Show |
C | downstream_gene_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 344 | 0.0029 | -14 | c.*44 others(25): Show |
BIN1 | ENSG00000136717.15 | transcript | ENST00000316724.10 | protein_coding | 3953 | chr2 | TogoVar | ||||||
BIN2_chr12_51276038_51329174 | 51294723 | GCACACAT others(7): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(82): Show |
a0001a0003a0007others(1): Show | a0001c0001a0003c0003a0007c0020others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0009a0001c0001t0001g0010others(75): Show | 85 | 400 | 0.2125 | -14 | c.761 others(31): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 9/12 | chr12 | TogoVar | ||||||
BIN2_chr12_51276038_51329174 | 51295577 | AATATATA others(7): Show |
A | intron_variant | MODIFIER | NA18994.hp1 NA19083.hp2 |
a0001a0010 | a0001c0001a0010c0016 | a0001c0001t0001a0010c0016t0001 | a0001c0001t0001g0128a0010c0016t0001g0094 | 2 | 400 | 0.0050 | -14 | c.761 others(29): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 9/12 | chr12 | TogoVar | ||||||
BIN3_chr8_22615418_22674121 | 22616884 | TTTTTTTT others(7): Show |
T | downstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0130 | 1 | 386 | 0.0026 | -14 | c.*45 others(25): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 3533 | chr8 | TogoVar | ||||||
BIN3_chr8_22615418_22674121 | 22649845 | ACACACAC others(7): Show |
A | intron_variant | MODIFIER | HG02630.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0232a0001c0001t0007g0321 | 2 | 386 | 0.0052 | -14 | c.9-5 others(27): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
BIRC2_chr11_102342214_102383670 | 102342344 | GTATATAT others(7): Show |
G | upstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 344 | 0.0029 | -14 | c.-62 others(25): Show |
BIRC2 | ENSG00000110330.10 | transcript | ENST00000227758.7 | protein_coding | 4869 | chr11 | TogoVar | ||||||
BIRC3_chr11_102312484_102344403 | 102342344 | GTATATAT others(7): Show |
G | downstream_gene_variant | MODIFIER | HG01891.hp1 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0032a0001c0001t0004g0036 | 2 | 384 | 0.0052 | -14 | c.*52 others(25): Show |
BIRC3 | ENSG00000023445.17 | transcript | ENST00000263464.9 | protein_coding | 2942 | chr11 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32369972 | ATATATAT others(7): Show |
A | intron_variant | MODIFIER | HG02622.hp2 HG03209.hp2 |
a0001 | a0001c0018 | a0001c0018t0005 | a0001c0018t0005g0183a0001c0018t0005g0184 | 2 | 274 | 0.0073 | -14 | c.326 others(31): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 1/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32431181 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0023 | a0001c0023t0001 | a0001c0023t0001g0011 | 1 | 274 | 0.0037 | -14 | c.324 others(31): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 12/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32448652 | TGGAGAGG others(7): Show |
T | intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0007 | 1 | 274 | 0.0037 | -14 | c.448 others(31): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 21/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32461157 | CCTCTCCC others(7): Show |
C | intron_variant | MODIFIER | HG02630.hp2 HG02717.hp2 NA18522.hp2 |
a0001 | a0001c0007a0001c0030 | a0001c0007t0004a0001c0030t0004 | a0001c0007t0004g0019a0001c0007t0004g0020a0001c0030t0004g0016 | 3 | 274 | 0.0110 | -14 | c.475 others(33): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 23/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |