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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BNC2_chr9_16404503_16875670 | 16779130 | A | AAAAAAG | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00558.hp2 others(54): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0002a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0002 a0001c0001t0001g0021 a0001c0001t0001g0053 others(54): Show |
57 | 176 | 0.3239 | 6 | c.4-4 others(21): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 1/6 | chr9 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16779130 | A | AAGAAAG | intron_variant | MODIFIER | HG01109.hp1 HG02258.hp1 HG02280.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0007a0001c0001t0063others(3): Show | a0001c0001t0001g0029 a0001c0001t0007g0065 a0001c0001t0063g0077 others(3): Show |
6 | 176 | 0.0341 | 6 | c.4-4 others(21): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 1/6 | chr9 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16779145 | G | GAAAAGA | intron_variant | MODIFIER | HG01074.hp1 HG01243.hp2 HG02145.hp1 others(8): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0017others(1): Show | a0001c0001t0003a0001c0001t0008a0001c0001t0025others(6): Show | a0001c0001t0003g0016 a0001c0001t0008g0014 a0001c0001t0008g0015 others(8): Show |
11 | 176 | 0.0625 | 6 | c.4-4 others(21): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 1/6 | chr9 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16796607 | G | GAAGGGA | intron_variant | MODIFIER | HG01433.hp2 HG03098.hp1 NA19030.hp2 |
a0003 | a0003c0008a0003c0023 | a0003c0008t0025a0003c0008t0100a0003c0023t0027 | a0003c0008t0025g0066 a0003c0008t0100g0072 a0003c0023t0027g0073 |
3 | 176 | 0.0171 | 6 | c.4-5 others(21): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 1/6 | chr9 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16805713 | G | GCACACA | intron_variant | MODIFIER | HG00621.hp1 HG01106.hp1 HG01361.hp2 others(40): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(29): Show | a0001c0001t0001g0024 a0001c0001t0001g0053 a0001c0001t0001g0056 others(40): Show |
43 | 176 | 0.2443 | 6 | c.3+6 others(21): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 1/6 | chr9 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16847409 | G | GGGGGGA | intron_variant | MODIFIER | HG00558.hp2 HG01243.hp2 HG02055.hp2 others(15): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(13): Show | a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0003g0063 others(15): Show |
18 | 176 | 0.1023 | 6 | c.3+2 others(21): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 1/6 | chr9 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16856277 | T | TCACACA | intron_variant | MODIFIER | HG01074.hp1 HG01099.hp1 HG01106.hp1 others(28): Show |
a0001a0008a0013 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(23): Show | a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0029 others(28): Show |
31 | 176 | 0.1761 | 6 | c.3+1 others(21): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 1/6 | chr9 | TogoVar | |||||||
BNIP1_chr5_173139531_173169387 | 173143575 | C | CAAAAAA | upstream_gene_variant | MODIFIER | HG00621.hp1 HG00735.hp2 HG01952.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0011 others(7): Show |
11 | 352 | 0.0313 | 6 | c.-97 others(15): Show |
BNIP1 | ENSG00000113734.18 | transcript | ENST00000351486.10 | protein_coding | 955 | chr5 | TogoVar | |||||||
BNIP1_chr5_173139531_173169387 | 173148083 | A | AAAATAT | intron_variant | MODIFIER | HG02074.hp1 HG02135.hp1 HG02165.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0199 a0001c0001t0001g0247 |
6 | 352 | 0.0171 | 6 | c.177 others(23): Show |
BNIP1 | ENSG00000113734.18 | transcript | ENST00000351486.10 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BNIP1_chr5_173139531_173169387 | 173166602 | T | TATACAC | downstream_gene_variant | MODIFIER | NA18951.hp2 NA18966.hp2 NA19083.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0053 a0001c0001t0001g0055 others(1): Show |
4 | 352 | 0.0114 | 6 | c.*26 others(17): Show |
BNIP1 | ENSG00000113734.18 | transcript | ENST00000351486.10 | protein_coding | 2216 | chr5 | TogoVar | |||||||
BNIP2_chr15_59654146_59694320 | 59658155 | C | CAAAAAA | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01168.hp2 HG01175.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0002g0001 a0001c0001t0002g0019 a0001c0001t0002g0021 others(25): Show |
36 | 412 | 0.0874 | 6 | c.*59 others(17): Show |
BNIP2 | ENSG00000140299.14 | transcript | ENST00000607373.6 | protein_coding | 990 | chr15 | TogoVar | |||||||
BNIP2_chr15_59654146_59694320 | 59690670 | T | TAAAAAA | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp2 others(138): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0010a0001c0001t0013a0001c0001t0039others(17): Show | a0001c0001t0010g0028 a0001c0001t0010g0051 a0001c0001t0010g0071 others(81): Show |
141 | 412 | 0.3422 | 6 | c.-15 others(17): Show |
BNIP2 | ENSG00000140299.14 | transcript | ENST00000607373.6 | protein_coding | 1351 | chr15 | TogoVar | |||||||
BNIPL_chr1_151031586_151052720 | 151051393 | G | GAAAAAA | downstream_gene_variant | MODIFIER | HG00408.hp2 HG02027.hp1 HG02717.hp2 others(3): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0001 | a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0001g0094 others(3): Show |
6 | 362 | 0.0166 | 6 | c.*47 others(17): Show |
BNIPL | ENSG00000163141.20 | transcript | ENST00000368931.8 | protein_coding | 3674 | chr1 | TogoVar | |||||||
BOC_chr3_113206557_113292459 | 113233148 | G | GGTGTGT | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG00621.hp1 others(38): Show |
a0001a0009a0010others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0022others(11): Show | a0001c0001t0002g0009 a0001c0001t0002g0020 a0001c0001t0002g0022 others(37): Show |
41 | 386 | 0.1062 | 6 | c.-81 others(25): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BOC_chr3_113206557_113292459 | 113236266 | G | GTGTGTC | intron_variant | MODIFIER | HG02723.hp1 HG03453.hp2 NA18972.hp2 others(3): Show |
a0001a0003a0004 | a0001c0012a0003c0007a0004c0011 | a0001c0012t0001a0003c0007t0021a0004c0011t0011 | a0001c0012t0001g0376 a0003c0007t0021g0191 a0003c0007t0021g0192 others(3): Show |
6 | 386 | 0.0155 | 6 | c.-81 others(25): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BOD1L1_chr4_13563738_13632725 | 13584441 | A | AGTGTGT | intron_variant | MODIFIER | HG01975.hp2 HG02145.hp2 HG02523.hp1 others(8): Show |
a0001a0002a0006 | a0001c0001a0001c0017a0002c0002others(1): Show | a0001c0001t0001a0001c0017t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0026 a0001c0001t0001g0040 a0001c0001t0001g0051 others(7): Show |
11 | 258 | 0.0426 | 6 | c.843 others(25): Show |
BOD1L1 | ENSG00000038219.13 | transcript | ENST00000040738.10 | protein_coding | 17/25 | chr4 | TogoVar | |||||||
BOD1_chr5_173602145_173621650 | 173616599 | C | CGGCGAA | 5_prime_UTR_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG03209.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0018 a0001c0001t0005g0066 |
4 | 416 | 0.0096 | 6 | c.-16 others(15): Show |
BOD1 | ENSG00000145919.11 | transcript | ENST00000311086.9 | protein_coding | 1/4 | 164 | chr5 | TogoVar | ||||||
BOLL_chr2_197721890_197790319 | 197736531 | G | GTTAAAA | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp2 HG02280.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0004g0091 others(2): Show |
5 | 328 | 0.0152 | 6 | c.828 others(23): Show |
BOLL | ENSG00000152430.19 | transcript | ENST00000392296.9 | protein_coding | 10/10 | chr2 | TogoVar | |||||||
BORA_chr13_72722923_72761196 | 72724748 | A | ATGTGTG | upstream_gene_variant | MODIFIER | HG01243.hp2 HG01993.hp1 NA18961.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0163 a0001c0001t0003g0025 a0001c0002t0001g0047 |
4 | 388 | 0.0103 | 6 | c.-32 others(17): Show |
BORA | ENSG00000136122.18 | transcript | ENST00000390667.11 | protein_coding | 3174 | chr13 | TogoVar | |||||||
BORA_chr13_72722923_72761196 | 72724752 | A | ATATGTG | upstream_gene_variant | MODIFIER | HG02040.hp2 HG02074.hp2 HG04204.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0045 a0001c0001t0001g0108 a0001c0001t0002g0022 others(1): Show |
4 | 388 | 0.0103 | 6 | c.-32 others(17): Show |
BORA | ENSG00000136122.18 | transcript | ENST00000390667.11 | protein_coding | 3170 | chr13 | TogoVar | |||||||
BORA_chr13_72722923_72761196 | 72724752 | A | ATGTGTG | upstream_gene_variant | MODIFIER | HG02257.hp1 HG02615.hp2 HG02647.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0006 a0001c0001t0001g0088 a0001c0001t0002g0087 |
4 | 388 | 0.0103 | 6 | c.-32 others(17): Show |
BORA | ENSG00000136122.18 | transcript | ENST00000390667.11 | protein_coding | 3170 | chr13 | TogoVar | |||||||
BORCS8_chr19_19171906_19197152 | 19177684 | G | GAAAAGA | intron_variant | MODIFIER | HG02083.hp2 HG02717.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0205 a0001c0001t0003g0208 a0001c0001t0003g0328 |
3 | 428 | 0.0070 | 6 | c.*43 others(21): Show |
BORCS8 | ENSG00000254901.8 | transcript | ENST00000462790.8 | protein_coding | 5/5 | chr19 | TogoVar | |||||||
BPGM_chr7_134641853_134684816 | 134659372 | C | CGTGTGT | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG01884.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 a0001c0001t0001g0052 a0001c0001t0001g0061 others(1): Show |
5 | 362 | 0.0138 | 6 | c.-61 others(23): Show |
BPGM | ENSG00000172331.12 | transcript | ENST00000344924.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BPGM_chr7_134641853_134684816 | 134663368 | A | ATGTGTG | intron_variant | MODIFIER | HG01358.hp2 HG01884.hp1 HG02257.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0022 a0001c0001t0001g0061 a0001c0001t0001g0112 others(13): Show |
22 | 362 | 0.0608 | 6 | c.601 others(23): Show |
BPGM | ENSG00000172331.12 | transcript | ENST00000344924.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BPGM_chr7_134641853_134684816 | 134664548 | A | AGGTATT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(266): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(141): Show |
269 | 362 | 0.7431 | 6 | c.601 others(23): Show |
BPGM | ENSG00000172331.12 | transcript | ENST00000344924.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BPGM_chr7_134641853_134684816 | 134665649 | G | GAAAAAA | intron_variant | MODIFIER | HG00280.hp2 HG01074.hp2 HG01168.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0046 others(14): Show |
31 | 362 | 0.0856 | 6 | c.601 others(23): Show |
BPGM | ENSG00000172331.12 | transcript | ENST00000344924.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BPHL_chr6_3113711_3158578 | 3144379 | T | TTTTTTG | intron_variant | MODIFIER | HG01081.hp1 HG01099.hp2 HG01975.hp1 others(28): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0003a0002c0003t0001others(2): Show | a0001c0001t0001g0053 a0001c0001t0001g0082 a0001c0002t0003g0009 others(21): Show |
31 | 350 | 0.0886 | 6 | c.788 others(23): Show |
BPHL | ENSG00000137274.13 | transcript | ENST00000380379.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BPIFA1_chr20_33230996_33248306 | 33231224 | A | AAGAAAG | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01928.hp1 HG01978.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0019 others(1): Show |
7 | 382 | 0.0183 | 6 | c.-48 others(17): Show |
BPIFA1 | ENSG00000198183.13 | transcript | ENST00000354297.9 | protein_coding | 4771 | chr20 | TogoVar | |||||||
BPIFA2_chr20_33163159_33186412 | 33167682 | C | CGCTGTG | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(373): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(82): Show |
376 | 378 | 0.9947 | 6 | c.-54 others(15): Show |
BPIFA2 | ENSG00000131050.11 | transcript | ENST00000354932.6 | protein_coding | 476 | chr20 | TogoVar | |||||||
BPIFA3_chr20_33212352_33232806 | 33213109 | T | TACACAC | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02258.hp1 HG02451.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 a0001c0001t0002g0046 a0001c0001t0002g0047 others(1): Show |
5 | 416 | 0.0120 | 6 | c.-44 others(17): Show |
BPIFA3 | ENSG00000131059.12 | transcript | ENST00000375454.8 | protein_coding | 4242 | chr20 | TogoVar | |||||||
BPIFA3_chr20_33212352_33232806 | 33231224 | A | AAGAAAG | downstream_gene_variant | MODIFIER | HG01070.hp2 HG01928.hp1 HG01978.hp2 others(4): Show |
a0002 | a0002c0002a0002c0015 | a0002c0002t0001a0002c0015t0001 | a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0015t0001g0002 |
7 | 416 | 0.0168 | 6 | c.*36 others(17): Show |
BPIFA3 | ENSG00000131059.12 | transcript | ENST00000375454.8 | protein_coding | 3419 | chr20 | TogoVar | |||||||
BPIFB1_chr20_33278214_33314871 | 33284871 | T | TTCTCTC | intron_variant | MODIFIER | HG00639.hp1 HG01361.hp1 HG03490.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0027 a0001c0001t0001g0071 a0001c0001t0001g0072 others(2): Show |
7 | 388 | 0.0180 | 6 | c.-41 others(23): Show |
BPIFB1 | ENSG00000125999.11 | transcript | ENST00000253354.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BPIFB1_chr20_33278214_33314871 | 33293860 | A | AAATAGC | intron_variant | MODIFIER | HG02055.hp2 HG02896.hp2 HG02965.hp1 others(4): Show |
a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0235 a0006c0007t0001g0240 a0006c0007t0001g0241 others(4): Show |
7 | 388 | 0.0180 | 6 | c.597 others(23): Show |
BPIFB1 | ENSG00000125999.11 | transcript | ENST00000253354.2 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BPIFB1_chr20_33278214_33314871 | 33298976 | C | CTTTTTT | intron_variant | MODIFIER | HG02145.hp1 HG02572.hp2 HG02615.hp2 others(12): Show |
a0001a0007a0008others(1): Show | a0001c0001a0007c0006a0008c0008others(1): Show | a0001c0001t0001a0007c0006t0001a0008c0008t0001others(1): Show | a0001c0001t0001g0239 a0007c0006t0001g0040 a0007c0006t0001g0041 others(8): Show |
15 | 388 | 0.0387 | 6 | c.662 others(21): Show |
BPIFB1 | ENSG00000125999.11 | transcript | ENST00000253354.2 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BPIFB3_chr20_33048903_33078847 | 33052540 | G | GTATATA | upstream_gene_variant | MODIFIER | HG01952.hp2 HG03688.hp2 NA18949.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0115 |
7 | 374 | 0.0187 | 6 | c.-14 others(17): Show |
BPIFB3 | ENSG00000186190.8 | transcript | ENST00000375494.4 | protein_coding | 1362 | chr20 | TogoVar | |||||||
BPIFB3_chr20_33048903_33078847 | 33052546 | G | GTATATA | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG00735.hp2 others(10): Show |
a0001a0002a0017 | a0001c0001a0002c0002a0017c0023 | a0001c0001t0001a0002c0002t0002a0017c0023t0003 | a0001c0001t0001g0010 a0002c0002t0002g0003 a0002c0002t0002g0013 others(7): Show |
13 | 374 | 0.0348 | 6 | c.-14 others(17): Show |
BPIFB3 | ENSG00000186190.8 | transcript | ENST00000375494.4 | protein_coding | 1356 | chr20 | TogoVar | |||||||
BPIFB4_chr20_33074643_33116751 | 33106376 | C | CTTTTTT | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00558.hp2 others(92): Show |
a0002a0003a0004others(2): Show | a0002c0002a0002c0011a0003c0003others(4): Show | a0002c0002t0001a0002c0002t0002a0002c0011t0001others(6): Show | a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0006 others(75): Show |
95 | 344 | 0.2762 | 6 | c.174 others(25): Show |
BPIFB4 | ENSG00000186191.9 | transcript | ENST00000375483.4 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BPIFB6_chr20_33026648_33049047 | 33048740 | G | GGTGTGT | downstream_gene_variant | MODIFIER | HG00558.hp1 HG00597.hp1 HG00597.hp2 others(65): Show |
a0001a0003 | a0001c0001a0001c0007a0003c0003 | a0001c0001t0001a0001c0007t0001a0003c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(16): Show |
68 | 384 | 0.1771 | 6 | c.*46 others(17): Show |
BPIFB6 | ENSG00000167104.11 | transcript | ENST00000349552.1 | protein_coding | 4694 | chr20 | TogoVar | |||||||
BPIFC_chr22_32408845_32469446 | 32423571 | G | GGTGTGT | intron_variant | MODIFIER | HG02145.hp2 HG02486.hp2 HG02615.hp2 others(8): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0004 | a0001c0001t0001a0001c0001t0002a0003c0003t0001others(1): Show | a0001c0001t0001g0020 a0001c0001t0001g0280 a0001c0001t0001g0284 others(8): Show |
11 | 422 | 0.0261 | 6 | c.121 others(25): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | |||||||
BPIFC_chr22_32408845_32469446 | 32423577 | G | GGTGTGT | intron_variant | MODIFIER | HG00621.hp2 HG00738.hp2 HG01069.hp2 others(17): Show |
a0001a0003a0005others(3): Show | a0001c0001a0003c0003a0005c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0003c0003t0002others(4): Show | a0001c0001t0001g0009 a0001c0001t0001g0128 a0001c0001t0001g0231 others(16): Show |
20 | 422 | 0.0474 | 6 | c.121 others(25): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | |||||||
BPIFC_chr22_32408845_32469446 | 32424642 | C | CTCTTCT | intron_variant | MODIFIER | HG01243.hp1 HG01943.hp2 HG02074.hp2 others(16): Show |
a0002a0004a0007 | a0002c0002a0004c0005a0007c0007 | a0002c0002t0001a0002c0002t0002a0004c0005t0001others(2): Show | a0002c0002t0001g0076 a0002c0002t0001g0121 a0002c0002t0001g0125 others(15): Show |
19 | 422 | 0.0450 | 6 | c.121 others(25): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | |||||||
BPIFC_chr22_32408845_32469446 | 32424753 | C | CTCCTCT | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp2 HG00738.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0052 a0001c0001t0001g0075 a0001c0001t0001g0092 others(3): Show |
6 | 422 | 0.0142 | 6 | c.121 others(25): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | |||||||
BPIFC_chr22_32408845_32469446 | 32424753 | C | CTCTTCT | intron_variant | MODIFIER | HG03490.hp1 HG03492.hp1 HG04228.hp1 |
a0002a0007 | a0002c0002a0007c0007 | a0002c0002t0001a0007c0007t0001 | a0002c0002t0001g0175 a0007c0007t0001g0002 |
3 | 422 | 0.0071 | 6 | c.121 others(25): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | |||||||
BPIFC_chr22_32408845_32469446 | 32429200 | T | TTTTTAC | intron_variant | MODIFIER | HG00280.hp1 HG00733.hp2 HG01099.hp2 others(16): Show |
a0001a0006a0009others(1): Show | a0001c0001a0001c0024a0006c0006others(2): Show | a0001c0001t0001a0001c0024t0001a0006c0006t0001others(2): Show | a0001c0001t0001g0009 a0001c0024t0001g0130 a0006c0006t0001g0004 others(15): Show |
19 | 422 | 0.0450 | 6 | c.121 others(25): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | |||||||
BPIFC_chr22_32408845_32469446 | 32429509 | G | GTTTTTT | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02027.hp2 others(6): Show |
a0001a0005 | a0001c0001a0005c0004 | a0001c0001t0001a0005c0004t0001 | a0001c0001t0001g0113 a0001c0001t0001g0128 a0001c0001t0001g0183 others(6): Show |
9 | 422 | 0.0213 | 6 | c.121 others(25): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | |||||||
BPIFC_chr22_32408845_32469446 | 32438192 | G | GGAATGT | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00423.hp1 others(42): Show |
a0004a0005 | a0004c0005a0005c0004 | a0004c0005t0001a0004c0005t0002a0005c0004t0001others(1): Show | a0004c0005t0001g0015 a0004c0005t0001g0068 a0004c0005t0001g0086 others(42): Show |
45 | 422 | 0.1066 | 6 | c.656 others(21): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 8/16 | chr22 | TogoVar | |||||||
BPIFC_chr22_32408845_32469446 | 32464646 | A | AACACAC | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01192.hp1 HG01346.hp1 others(24): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0003c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(10): Show | a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0002g0039 others(24): Show |
27 | 422 | 0.0640 | 6 | c.-36 others(15): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 201 | chr22 | TogoVar | |||||||
BPI_chr20_38299156_38342505 | 38302460 | C | CAATAAT | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00621.hp1 HG00639.hp2 others(52): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0058a0002c0002others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0058t0002others(24): Show | a0001c0001t0001g0222 a0001c0001t0001g0282 a0001c0001t0002g0001 others(41): Show |
55 | 426 | 0.1291 | 6 | c.-17 others(17): Show |
BPI | ENSG00000101425.14 | transcript | ENST00000642449.2 | protein_coding | 1695 | chr20 | TogoVar | |||||||
BPI_chr20_38299156_38342505 | 38314184 | A | ATGATGG | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(229): Show |
a0001a0003a0004others(23): Show | a0001c0001a0001c0058a0003c0003others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0013 a0001c0001t0001g0037 a0001c0001t0001g0176 others(178): Show |
232 | 426 | 0.5446 | 6 | c.600 others(23): Show |
BPI | ENSG00000101425.14 | transcript | ENST00000642449.2 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BPI_chr20_38299156_38342505 | 38320661 | T | TACACAC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(98): Show |
a0001a0002a0003others(22): Show | a0001c0001a0002c0002a0002c0011others(27): Show | a0001c0001t0002a0001c0001t0006a0002c0002t0001others(34): Show | a0001c0001t0002g0249 a0001c0001t0006g0289 a0002c0002t0001g0004 others(84): Show |
101 | 426 | 0.2371 | 6 | c.756 others(21): Show |
BPI | ENSG00000101425.14 | transcript | ENST00000642449.2 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |