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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2450): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 410 | 0.0024 | 2457 | c.213 others(2474): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2450): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0002 | a0002c0002t0054 | a0002c0002t0054g0149 | 1 | 410 | 0.0024 | 2457 | c.213 others(2474): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999887 | T | TGGGATTA others(2450): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 410 | 0.0024 | 2457 | c.213 others(2474): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(2450): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0003 | a0001c0003t0025 | a0001c0003t0025g0043 | 1 | 272 | 0.0037 | 2457 | c.109 others(2476): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 458540 | C | CCACAGGG others(2450): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0004 | 1 | 295 | 0.0034 | 2457 | c.715 others(2474): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(2450): Show |
downstream_gene_variant | MODIFIER | HG02738.hp2 HG03654.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0000 | 2 | 375 | 0.0053 | 2457 | c.*44 others(2468): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | |||||||
ADAMTS9_chr3_64510654_64693000 | 64547512 | A | ATTTTTTT others(2451): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02572.hp1 HG03139.hp2 others(1): Show |
a0001 | a0001c0004a0001c0005a0001c0007 | a0001c0004t0002a0001c0005t0011a0001c0007t0002 | a0001c0004t0002g0277 a0001c0005t0011g0008 a0001c0007t0002g0219 others(1): Show |
4 | 286 | 0.0140 | 2458 | c.487 others(2475): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 31/39 | chr3 | TogoVar | |||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2451): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0064 | a0001c0001t0064g0307 | 1 | 410 | 0.0024 | 2458 | c.213 others(2475): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2451): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0068 | a0001c0001t0013g0405 a0001c0001t0068g0397 |
2 | 410 | 0.0049 | 2458 | c.213 others(2475): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2451): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 410 | 0.0024 | 2458 | c.213 others(2475): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2451): Show |
intron_variant | MODIFIER | NA18982.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0300 | 1 | 410 | 0.0024 | 2458 | c.213 others(2475): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2451): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0162 | 1 | 410 | 0.0024 | 2458 | c.213 others(2475): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2451): Show |
intron_variant | MODIFIER | NA18942.hp1 NA19068.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0003 | a0001c0001t0004g0065 a0002c0002t0003g0169 |
2 | 410 | 0.0049 | 2458 | c.213 others(2475): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2451): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0172 | 1 | 410 | 0.0024 | 2458 | c.213 others(2475): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2451): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01993.hp1 HG03017.hp1 others(6): Show |
a0002a0003a0004 | a0002c0002a0003c0003a0004c0004 | a0002c0002t0001a0002c0002t0003a0002c0002t0036others(3): Show | a0002c0002t0001g0176 a0002c0002t0001g0293 a0002c0002t0003g0175 others(6): Show |
9 | 410 | 0.0220 | 2458 | c.213 others(2475): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2451): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0075 | a0001c0001t0075g0037 | 1 | 410 | 0.0024 | 2458 | c.213 others(2475): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2451): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0070 | a0001c0001t0070g0141 | 1 | 410 | 0.0024 | 2458 | c.213 others(2475): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2451): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0038 | 1 | 410 | 0.0024 | 2458 | c.213 others(2475): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2451): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 410 | 0.0024 | 2458 | c.213 others(2475): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2451): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0099 | 1 | 410 | 0.0024 | 2458 | c.213 others(2475): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2451): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0006 | a0006c0012 | a0006c0012t0017 | a0006c0012t0017g0389 | 1 | 410 | 0.0024 | 2458 | c.213 others(2475): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2451): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01074.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0026 | a0001c0001t0001g0016 a0001c0001t0026g0015 |
2 | 410 | 0.0049 | 2458 | c.213 others(2475): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2451): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 410 | 0.0024 | 2458 | c.213 others(2475): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2451): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0002 | a0002c0002t0015 | a0002c0002t0015g0369 | 1 | 410 | 0.0024 | 2458 | c.213 others(2475): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2451): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00735.hp1 others(66): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0078 others(65): Show |
69 | 410 | 0.1683 | 2458 | c.213 others(2475): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2451): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0067 | 1 | 410 | 0.0024 | 2458 | c.213 others(2475): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2451): Show |
intron_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 410 | 0.0024 | 2458 | c.213 others(2475): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2451): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 410 | 0.0024 | 2458 | c.213 others(2475): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2451): Show |
intron_variant | MODIFIER | HG00609.hp1 NA19084.hp2 |
a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0110 a0001c0001t0019g0111 |
2 | 410 | 0.0049 | 2458 | c.213 others(2475): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137721354 | C | CCAGACTT others(2451): Show |
intron_variant | MODIFIER | HG03927.hp1 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 a0001c0001t0001g0041 |
2 | 170 | 0.0118 | 2458 | c.642 others(2475): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2451): Show |
upstream_gene_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 301 | 0.0033 | 2458 | c.-11 others(2469): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | |||||||
MSLN_chr16_755734_773862 | 767619 | G | GGCGTGGA others(2451): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 388 | 0.0026 | 2458 | c.159 others(2475): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477317 | A | ACCCACCC others(2452): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0152 | 1 | 334 | 0.0030 | 2459 | c.147 others(2476): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2452): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03579.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0034a0001c0001t0081 | a0001c0001t0034g0002 a0001c0001t0034g0057 a0001c0001t0081g0002 |
3 | 410 | 0.0073 | 2459 | c.213 others(2476): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2452): Show |
intron_variant | MODIFIER | HG02970.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0044a0001c0001t0076 | a0001c0001t0044g0403 a0001c0001t0076g0404 |
2 | 410 | 0.0049 | 2459 | c.213 others(2476): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2452): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0002 | a0002c0002 | a0002c0002t0089 | a0002c0002t0089g0291 | 1 | 410 | 0.0024 | 2459 | c.213 others(2476): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2452): Show |
intron_variant | MODIFIER | HG02074.hp1 HG03834.hp1 NA18974.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0168 a0002c0002t0002g0246 a0002c0002t0002g0292 |
3 | 410 | 0.0073 | 2459 | c.213 others(2476): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2452): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0032 | 1 | 410 | 0.0024 | 2459 | c.213 others(2476): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2452): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0163 | 1 | 410 | 0.0024 | 2459 | c.213 others(2476): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2452): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0173 | 1 | 410 | 0.0024 | 2459 | c.213 others(2476): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2452): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00423.hp2 others(73): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(30): Show | a0001c0001t0001g0055 a0001c0001t0001g0212 a0001c0001t0003g0195 others(73): Show |
76 | 410 | 0.1854 | 2459 | c.213 others(2476): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2452): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0217 | 1 | 410 | 0.0024 | 2459 | c.213 others(2476): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2452): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0226 | 1 | 410 | 0.0024 | 2459 | c.213 others(2476): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2452): Show |
intron_variant | MODIFIER | HG00438.hp1 NA18954.hp2 NA18980.hp2 others(2): Show |
a0002 | a0002c0002a0002c0013 | a0002c0002t0001a0002c0002t0021a0002c0002t0029others(1): Show | a0002c0002t0001g0263 a0002c0002t0021g0232 a0002c0002t0029g0233 others(2): Show |
5 | 410 | 0.0122 | 2459 | c.213 others(2476): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2452): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02280.hp1 HG02451.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009a0001c0001t0016others(2): Show | a0001c0001t0004g0042 a0001c0001t0009g0041 a0001c0001t0009g0044 others(6): Show |
9 | 410 | 0.0220 | 2459 | c.213 others(2476): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2452): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0002 | a0002c0002 | a0002c0002t0045 | a0002c0002t0045g0395 | 1 | 410 | 0.0024 | 2459 | c.213 others(2476): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2452): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0026others(5): Show | a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 others(11): Show |
14 | 410 | 0.0342 | 2459 | c.213 others(2476): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2452): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 410 | 0.0024 | 2459 | c.213 others(2476): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2452): Show |
intron_variant | MODIFIER | HG02809.hp2 HG03540.hp1 |
a0002 | a0002c0002 | a0002c0002t0015 | a0002c0002t0015g0370 a0002c0002t0015g0390 |
2 | 410 | 0.0049 | 2459 | c.213 others(2476): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2452): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02622.hp1 |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0063 | a0001c0001t0021g0121 a0001c0001t0063g0080 |
2 | 410 | 0.0049 | 2459 | c.213 others(2476): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |