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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BMPR1A_chr10_86751619_86932969 | 86790188 | A | AAAAAATA others(17): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0192 | 1 | 189 | 0.0053 | 24 | c.-26 others(45): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86791687 | T | TCCTTCCT others(17): Show |
intron_variant | MODIFIER | HG02886.hp1 HG02895.hp1 HG02896.hp1 others(5): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0006a0001c0003t0014a0001c0003t0032others(1): Show | a0001c0002t0006g0011 a0001c0003t0014g0002 a0001c0003t0014g0007 others(5): Show |
8 | 173 | 0.0462 | 24 | c.-26 others(45): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86791711 | C | CCCTCCCT others(17): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01109.hp1 HG01168.hp2 others(20): Show |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0007a0001c0002t0010others(6): Show | a0001c0002t0006g0025 a0001c0002t0006g0126 a0001c0002t0006g0127 others(20): Show |
23 | 148 | 0.1554 | 24 | c.-26 others(45): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86824080 | G | GGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0002 | a0001c0002t0065 | a0001c0002t0065g0203 | 1 | 275 | 0.0036 | 24 | c.-26 others(45): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | chr10 | TogoVar | |||||||
BMPR1A_chr10_86751619_86932969 | 86824081 | T | TTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0167 | 1 | 195 | 0.0051 | 24 | c.-26 others(45): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86824105 | G | GTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG03239.hp2 NA18612.hp1 |
a0001 | a0001c0002 | a0001c0002t0066a0001c0002t0072 | a0001c0002t0066g0206 a0001c0002t0072g0163 |
2 | 178 | 0.0112 | 24 | c.-26 others(45): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86826411 | A | AACACACA others(17): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0003 | a0001c0003t0020 | a0001c0003t0020g0158 | 1 | 111 | 0.0090 | 24 | c.-26 others(45): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86837241 | G | GTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG03669.hp2 NA18971.hp1 |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0016 | a0001c0002t0004g0069 a0001c0002t0016g0097 |
2 | 256 | 0.0078 | 24 | c.-26 others(43): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86837243 | G | GTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG02886.hp1 HG02895.hp1 HG02896.hp1 others(11): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0063a0001c0002t0066a0001c0002t0069others(6): Show | a0001c0002t0063g0209 a0001c0002t0066g0206 a0001c0002t0069g0207 others(11): Show |
14 | 259 | 0.0541 | 24 | c.-26 others(43): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86837245 | G | GTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02723.hp1 NA19074.hp1 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0003a0001c0002t0021a0002c0001t0013 | a0001c0002t0003g0067 a0001c0002t0021g0073 a0002c0001t0013g0107 |
3 | 200 | 0.0150 | 24 | c.-26 others(43): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86931298 | C | CACACACA others(17): Show |
downstream_gene_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0100 | 1 | 121 | 0.0083 | 24 | c.*75 others(35): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 3330 | chr10 | TogoVar | |||||||
BMPR1B_chr4_94752955_95163448 | 94770182 | G | GTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG01255.hp1 HG03704.hp2 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0028a0001c0001t0061 | a0001c0001t0003g0099 a0001c0001t0028g0100 a0001c0001t0061g0101 |
3 | 167 | 0.0180 | 24 | c.-18 others(45): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMPR1B_chr4_94752955_95163448 | 94937717 | C | CACACAGA others(17): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03209.hp2 HG03453.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0035a0001c0002t0009 | a0001c0001t0005g0017 a0001c0001t0035g0021 a0001c0002t0009g0215 others(1): Show |
4 | 152 | 0.0263 | 24 | c.-11 others(45): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMPR1B_chr4_94752955_95163448 | 95026098 | A | ATTTCTTT others(17): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01934.hp1 HG03540.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0061 | a0001c0001t0002g0062 a0001c0001t0002g0077 a0001c0001t0002g0224 others(1): Show |
4 | 87 | 0.0460 | 24 | c.-18 others(43): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMPR1B_chr4_94752955_95163448 | 95026098 | A | ATTTCTTT others(17): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02572.hp1 HG04115.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0002g0037 a0001c0001t0004g0211 a0001c0001t0005g0111 others(1): Show |
4 | 87 | 0.0460 | 24 | c.-18 others(43): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMPR1B_chr4_94752955_95163448 | 95026102 | C | CTTTCTTT others(17): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01123.hp2 HG01261.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0066 a0001c0001t0001g0095 a0001c0001t0001g0116 others(16): Show |
19 | 223 | 0.0852 | 24 | c.-18 others(43): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMPR1B_chr4_94752955_95163448 | 95071652 | G | GTATATAT others(17): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0108 | 1 | 83 | 0.0120 | 24 | c.-17 others(43): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMPR1B_chr4_94752955_95163448 | 95116421 | G | GCGCGCAC others(17): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0197 | 1 | 31 | 0.0323 | 24 | c.349 others(39): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMPR1B_chr4_94752955_95163448 | 95116421 | G | GCGCGCGC others(17): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0199 | 1 | 31 | 0.0323 | 24 | c.349 others(39): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMPR1B_chr4_94752955_95163448 | 95120610 | T | TTTCCTTC others(17): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01123.hp1 HG01192.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(8): Show | a0001c0001t0002g0043 a0001c0001t0002g0083 a0001c0001t0002g0210 others(14): Show |
17 | 60 | 0.2833 | 24 | c.350 others(41): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMPR2_chr2_202371327_202572749 | 202384530 | C | CTCTTTCT others(17): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0016 | 1 | 215 | 0.0047 | 24 | c.76+ others(39): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BMPR2_chr2_202371327_202572749 | 202393882 | C | CGAGAGAG others(17): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0172 | 1 | 11 | 0.0909 | 24 | c.76+ others(41): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BMPR2_chr2_202371327_202572749 | 202434908 | A | AAAATATA others(17): Show |
intron_variant | MODIFIER | HG01517.hp1 HG01993.hp2 HG02273.hp1 |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0003a0001c0001t0006a0003c0008t0003 | a0001c0001t0003g0020 a0001c0001t0006g0062 a0003c0008t0003g0030 |
3 | 138 | 0.0217 | 24 | c.77- others(41): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BMPR2_chr2_202371327_202572749 | 202435376 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0077 | 1 | 58 | 0.0172 | 24 | c.77- others(41): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BMPR2_chr2_202371327_202572749 | 202567450 | C | CTGAAGCC others(17): Show |
3_prime_UTR_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0168 | 1 | 222 | 0.0045 | 24 | c.*75 others(35): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 13/13 | 7530 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BNC2_chr9_16404503_16875670 | 16616781 | G | GAGGAGGG others(17): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0155 | 1 | 171 | 0.0058 | 24 | c.331 others(43): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 3/6 | chr9 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16616790 | G | GGGAAGGA others(17): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01516.hp2 HG02145.hp2 others(7): Show |
a0001a0006 | a0001c0001a0001c0007a0006c0012 | a0001c0001t0001a0001c0001t0004a0001c0001t0015others(6): Show | a0001c0001t0001g0060 a0001c0001t0004g0127 a0001c0001t0015g0071 others(7): Show |
10 | 51 | 0.1961 | 24 | c.331 others(43): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 3/6 | chr9 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16616837 | A | AAGGAAGG others(17): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02965.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0105 | a0001c0001t0007g0065 a0001c0001t0007g0086 a0001c0001t0105g0061 |
3 | 166 | 0.0181 | 24 | c.331 others(43): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 3/6 | chr9 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16677578 | A | AACACACA others(17): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02258.hp1 HG02280.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0013a0001c0001t0020others(2): Show | a0001c0001t0001g0037 a0001c0001t0013g0040 a0001c0001t0020g0079 others(2): Show |
5 | 17 | 0.2941 | 24 | c.330 others(43): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 3/6 | chr9 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16861181 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03579.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0086a0001c0001t0096 | a0001c0001t0001g0056 a0001c0001t0086g0068 a0001c0001t0096g0055 |
3 | 17 | 0.1765 | 24 | c.3+9 others(37): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 1/6 | chr9 | TogoVar | |||||||
BNIP3L_chr8_26378054_26418127 | 26388807 | C | CTAAATAA others(17): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02451.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0032 a0001c0001t0005g0203 |
3 | 203 | 0.0148 | 24 | c.101 others(41): Show |
BNIP3L | ENSG00000104765.16 | transcript | ENST00000380629.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BOC_chr3_113206557_113292459 | 113236288 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG00323.hp2 HG02145.hp2 |
a0001 | a0001c0018 | a0001c0018t0011 | a0001c0018t0011g0152 a0001c0018t0011g0153 |
2 | 337 | 0.0059 | 24 | c.-81 others(43): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BOC_chr3_113206557_113292459 | 113236290 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG03017.hp2 NA19085.hp2 |
a0001 | a0001c0008 | a0001c0008t0005 | a0001c0008t0005g0044 a0001c0008t0005g0103 |
2 | 359 | 0.0056 | 24 | c.-81 others(43): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BOC_chr3_113206557_113292459 | 113260692 | C | CAGAACAG others(17): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02293.hp1 NA18942.hp1 others(1): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0032others(1): Show | a0001c0001t0004a0001c0002t0001a0001c0032t0002others(1): Show | a0001c0001t0004g0208 a0001c0002t0001g0337 a0001c0032t0002g0090 others(1): Show |
4 | 384 | 0.0104 | 24 | c.377 others(41): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BOD1L1_chr4_13563738_13632725 | 13573442 | G | GTCTATCT others(17): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00609.hp1 others(23): Show |
a0001a0004a0010 | a0001c0001a0004c0004a0010c0011 | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(2): Show | a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0027 others(21): Show |
26 | 110 | 0.2364 | 24 | c.903 others(43): Show |
BOD1L1 | ENSG00000038219.13 | transcript | ENST00000040738.10 | protein_coding | 25/25 | chr4 | TogoVar | |||||||
BOD1L1_chr4_13563738_13632725 | 13573442 | G | GTCTGTCT others(17): Show |
intron_variant | MODIFIER | HG03688.hp1 NA19006.hp1 |
a0004a0027 | a0004c0004a0027c0020 | a0004c0004t0001a0027c0020t0001 | a0004c0004t0001g0043 a0027c0020t0001g0201 |
2 | 86 | 0.0233 | 24 | c.903 others(43): Show |
BOD1L1 | ENSG00000038219.13 | transcript | ENST00000040738.10 | protein_coding | 25/25 | chr4 | TogoVar | |||||||
BOD1L1_chr4_13563738_13632725 | 13573470 | A | ATCTATCT others(17): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02129.hp2 HG02135.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0004a0004c0004t0007 | a0001c0001t0001g0105 a0004c0004t0004g0007 a0004c0004t0007g0035 |
4 | 143 | 0.0280 | 24 | c.903 others(43): Show |
BOD1L1 | ENSG00000038219.13 | transcript | ENST00000040738.10 | protein_coding | 25/25 | chr4 | TogoVar | |||||||
BOK_chr2_241553745_241579131 | 241558052 | G | GAAACAGA others(17): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00639.hp2 HG00733.hp1 others(43): Show |
a0001 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0075 others(38): Show |
46 | 249 | 0.1847 | 24 | c.-97 others(33): Show |
BOK | ENSG00000176720.6 | transcript | ENST00000318407.5 | protein_coding | 692 | chr2 | TogoVar | |||||||
BORA_chr13_72722923_72761196 | 72724752 | A | ATATATAT others(17): Show |
upstream_gene_variant | MODIFIER | HG01175.hp1 HG01175.hp2 HG04228.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0002c0004t0002 | a0001c0001t0001g0001 a0001c0001t0001g0042 a0001c0001t0001g0066 others(4): Show |
8 | 57 | 0.1404 | 24 | c.-32 others(35): Show |
BORA | ENSG00000136122.18 | transcript | ENST00000390667.11 | protein_coding | 3170 | chr13 | TogoVar | |||||||
BORA_chr13_72722923_72761196 | 72724752 | A | ATATATAT others(17): Show |
upstream_gene_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 | 1 | 50 | 0.0200 | 24 | c.-32 others(35): Show |
BORA | ENSG00000136122.18 | transcript | ENST00000390667.11 | protein_coding | 3170 | chr13 | TogoVar | |||||||
BORA_chr13_72722923_72761196 | 72724752 | A | ATATATAT others(17): Show |
upstream_gene_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 50 | 0.0200 | 24 | c.-32 others(35): Show |
BORA | ENSG00000136122.18 | transcript | ENST00000390667.11 | protein_coding | 3170 | chr13 | TogoVar | |||||||
BORA_chr13_72722923_72761196 | 72756175 | G | GAATAATT others(17): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(285): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(143): Show |
288 | 386 | 0.7461 | 24 | c.*96 others(33): Show |
BORA | ENSG00000136122.18 | transcript | ENST00000390667.11 | protein_coding | 12/12 | 965 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
BPIFA1_chr20_33230996_33248306 | 33231142 | G | GAAGGAAG others(17): Show |
upstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0076 | 1 | 379 | 0.0026 | 24 | c.-49 others(35): Show |
BPIFA1 | ENSG00000198183.13 | transcript | ENST00000354297.9 | protein_coding | 4853 | chr20 | TogoVar | |||||||
BPIFA3_chr20_33212352_33232806 | 33231142 | G | GAAGGAAG others(17): Show |
downstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 413 | 0.0024 | 24 | c.*35 others(35): Show |
BPIFA3 | ENSG00000131059.12 | transcript | ENST00000375454.8 | protein_coding | 3337 | chr20 | TogoVar | |||||||
BPIFB1_chr20_33278214_33314871 | 33295645 | G | GAAGAAAG others(17): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0107 | 1 | 379 | 0.0026 | 24 | c.598 others(41): Show |
BPIFB1 | ENSG00000125999.11 | transcript | ENST00000253354.2 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BPIFB2_chr20_33002704_33028703 | 33025735 | G | GTCCATCC others(17): Show |
downstream_gene_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0051 | 1 | 298 | 0.0034 | 24 | c.*23 others(35): Show |
BPIFB2 | ENSG00000078898.7 | transcript | ENST00000170150.4 | protein_coding | 2033 | chr20 | TogoVar | |||||||
BPIFB4_chr20_33074643_33116751 | 33087753 | C | CACACACA others(17): Show |
intron_variant | MODIFIER | HG02074.hp2 HG02698.hp1 NA18963.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 |
3 | 83 | 0.0361 | 24 | c.927 others(41): Show |
BPIFB4 | ENSG00000186191.9 | transcript | ENST00000375483.4 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BPIFB4_chr20_33074643_33116751 | 33108423 | C | CTATATAT others(17): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01123.hp1 HG01175.hp2 others(34): Show |
a0002a0003a0004 | a0002c0002a0002c0009a0003c0012others(1): Show | a0002c0002t0001a0002c0009t0001a0003c0012t0001others(1): Show | a0002c0002t0001g0005 a0002c0002t0001g0008 a0002c0002t0001g0010 others(23): Show |
37 | 210 | 0.1762 | 24 | c.182 others(41): Show |
BPIFB4 | ENSG00000186191.9 | transcript | ENST00000375483.4 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BPIFC_chr22_32408845_32469446 | 32424600 | T | TCTTCTTC others(17): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0392 | 1 | 375 | 0.0027 | 24 | c.121 others(43): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | |||||||
BPIFC_chr22_32408845_32469446 | 32424642 | C | CTCTTCTT others(17): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0225 | 1 | 249 | 0.0040 | 24 | c.121 others(43): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar |