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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BNC2_chr9_16404503_16875670 | 16796571 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG01192.hp1 HG01884.hp2 others(28): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(23): Show | a0001c0001t0002g0169a0001c0001t0003g0016a0001c0001t0003g0046others(28): Show | 31 | 176 | 0.1761 | -10 | c.4-5 others(25): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 1/6 | chr9 | TogoVar | ||||||
BNC2_chr9_16404503_16875670 | 16805713 | GCACACAC others(3): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp1 HG02280.hp2 others(7): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0016others(1): Show | a0001c0001t0003a0001c0001t0008a0001c0001t0022others(7): Show | a0001c0001t0003g0016a0001c0001t0008g0015a0001c0001t0022g0135others(7): Show | 10 | 176 | 0.0568 | -10 | c.3+6 others(25): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 1/6 | chr9 | TogoVar | ||||||
BNC2_chr9_16404503_16875670 | 16833458 | GCCAAGAG others(3): Show |
G | intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0081 | a0001c0001t0081g0083 | 1 | 176 | 0.0057 | -10 | c.3+3 others(25): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 1/6 | chr9 | TogoVar | ||||||
BNIP1_chr5_173139531_173169387 | 173148081 | AAAATATA others(3): Show |
A | intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 | 1 | 352 | 0.0028 | -10 | c.177 others(27): Show |
BNIP1 | ENSG00000113734.18 | transcript | ENST00000351486.10 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
BNIP1_chr5_173139531_173169387 | 173148083 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG01106.hp2 HG01167.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0041a0001c0001t0001g0066a0001c0001t0001g0177others(5): Show | 8 | 352 | 0.0227 | -10 | c.177 others(27): Show |
BNIP1 | ENSG00000113734.18 | transcript | ENST00000351486.10 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
BNIP1_chr5_173139531_173169387 | 173166560 | GATATATA others(3): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(62): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(52): Show | 65 | 352 | 0.1847 | -10 | c.*26 others(21): Show |
BNIP1 | ENSG00000113734.18 | transcript | ENST00000351486.10 | protein_coding | 2174 | chr5 | TogoVar | ||||||
BNIP1_chr5_173139531_173169387 | 173166594 | TATATATA others(3): Show |
T | downstream_gene_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 352 | 0.0028 | -10 | c.*26 others(21): Show |
BNIP1 | ENSG00000113734.18 | transcript | ENST00000351486.10 | protein_coding | 2208 | chr5 | TogoVar | ||||||
BNIP3L_chr8_26378054_26418127 | 26384727 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0070 | 1 | 406 | 0.0025 | -10 | c.100 others(27): Show |
BNIP3L | ENSG00000104765.16 | transcript | ENST00000380629.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
BNIP5_chr6_36310761_36341888 | 36324575 | TTATATAT others(3): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG00673.hp1 HG01081.hp2 others(34): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(4): Show | a0001c0001t0001g0027a0001c0001t0001g0034a0001c0001t0001g0044others(25): Show | 37 | 424 | 0.0873 | -10 | c.116 others(27): Show |
BNIP5 | ENSG00000189325.7 | transcript | ENST00000437635.3 | protein_coding | 6/11 | chr6 | TogoVar | ||||||
BNIP5_chr6_36310761_36341888 | 36338497 | AGAAGGAA others(3): Show |
A | upstream_gene_variant | MODIFIER | NA18940.hp1 NA18974.hp1 NA19088.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0341a0003c0003t0001g0342a0003c0003t0001g0343 | 3 | 424 | 0.0071 | -10 | c.-18 others(21): Show |
BNIP5 | ENSG00000189325.7 | transcript | ENST00000437635.3 | protein_coding | 1610 | chr6 | TogoVar | ||||||
BNIPL_chr1_151031586_151052720 | 151036180 | ATTTTTTT others(3): Show |
A | upstream_gene_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0052 | 1 | 362 | 0.0028 | -10 | c.-54 others(19): Show |
BNIPL | ENSG00000163141.20 | transcript | ENST00000368931.8 | protein_coding | 405 | chr1 | TogoVar | ||||||
BNIPL_chr1_151031586_151052720 | 151038000 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(210): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0010a0003c0003others(6): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(74): Show | 213 | 362 | 0.5884 | -10 | c.137 others(25): Show |
BNIPL | ENSG00000163141.20 | transcript | ENST00000368931.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BOC_chr3_113206557_113292459 | 113210220 | AACAAACA others(3): Show |
A | upstream_gene_variant | MODIFIER | HG02630.hp1 HG03225.hp1 |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0014t0001 | a0001c0001t0001g0117a0001c0014t0001g0273 | 2 | 386 | 0.0052 | -10 | c.-19 others(21): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 1336 | chr3 | TogoVar | ||||||
BOC_chr3_113206557_113292459 | 113210224 | AACAAACA others(3): Show |
A | upstream_gene_variant | MODIFIER | HG01496.hp2 HG01928.hp2 HG02293.hp2 others(2): Show |
a0001a0008 | a0001c0001a0001c0002a0008c0023 | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(1): Show | a0001c0001t0001g0308a0001c0001t0003g0353a0001c0002t0002g0238others(2): Show | 5 | 386 | 0.0130 | -10 | c.-19 others(21): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 1332 | chr3 | TogoVar | ||||||
BOC_chr3_113206557_113292459 | 113210228 | AACACACA others(3): Show |
A | upstream_gene_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 386 | 0.0026 | -10 | c.-19 others(21): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 1328 | chr3 | TogoVar | ||||||
BOC_chr3_113206557_113292459 | 113233148 | GGTGTGTG others(3): Show |
G | intron_variant | MODIFIER | HG00544.hp2 HG02109.hp1 HG02257.hp1 others(9): Show |
a0001a0003 | a0001c0001a0001c0014a0003c0007others(1): Show | a0001c0001t0007a0001c0014t0001a0003c0007t0010others(4): Show | a0001c0001t0007g0208a0001c0014t0001g0102a0003c0007t0010g0130others(9): Show | 12 | 386 | 0.0311 | -10 | c.-81 others(29): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BOC_chr3_113206557_113292459 | 113236260 | GTGTGTGT others(3): Show |
G | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0006 | a0001c0006t0050 | a0001c0006t0050g0115 | 1 | 386 | 0.0026 | -10 | c.-81 others(29): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BOC_chr3_113206557_113292459 | 113236282 | GTATATAT others(3): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(136): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0005others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(41): Show | a0001c0001t0001g0029a0001c0001t0001g0313a0001c0001t0001g0339others(134): Show | 139 | 386 | 0.3601 | -10 | c.-81 others(29): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BOC_chr3_113206557_113292459 | 113260667 | TAGAACAG others(3): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp2 others(24): Show |
a0001a0004a0009 | a0001c0001a0001c0005a0001c0016others(2): Show | a0001c0001t0001a0001c0001t0018a0001c0001t0019others(8): Show | a0001c0001t0001g0048a0001c0001t0001g0056a0001c0001t0001g0057others(23): Show | 27 | 386 | 0.0700 | -10 | c.377 others(27): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BOC_chr3_113206557_113292459 | 113260716 | ACAGAAAG others(3): Show |
A | intron_variant | MODIFIER | HG02735.hp1 NA18961.hp2 |
a0001a0011 | a0001c0001a0011c0026 | a0001c0001t0001a0011c0026t0015 | a0001c0001t0001g0019a0011c0026t0015g0375 | 2 | 386 | 0.0052 | -10 | c.377 others(27): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 4/19 | chr3 | TogoVar | ||||||
BOD1L1_chr4_13563738_13632725 | 13574907 | GTTTTTGT others(3): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(127): Show |
a0000a0001a0004others(13): Show | a0000c0021a0001c0001a0001c0014others(17): Show | a0000c0021t0001a0001c0001t0001a0001c0001t0006others(22): Show | a0000c0021t0001g0183a0001c0001t0001g0008a0001c0001t0001g0009others(120): Show | 130 | 258 | 0.5039 | -10 | c.903 others(29): Show |
BOD1L1 | ENSG00000038219.13 | transcript | ENST00000040738.10 | protein_coding | 25/25 | chr4 | TogoVar | ||||||
BOLA1_chr1_149894568_149905795 | 149902634 | CTCAGGTA others(3): Show |
C | downstream_gene_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 360 | 0.0028 | -10 | c.*21 others(21): Show |
BOLA1 | ENSG00000178096.9 | transcript | ENST00000369152.6 | protein_coding | 1840 | chr1 | TogoVar | ||||||
BOLA3_chr2_74130400_74152912 | 74148139 | CAGTCTCC others(3): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(126): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0009others(63): Show | 129 | 434 | 0.2972 | -10 | c.-27 others(19): Show |
BOLA3 | ENSG00000163170.12 | transcript | ENST00000327428.10 | protein_coding | 228 | chr2 | TogoVar | ||||||
BOLL_chr2_197721890_197790319 | 197754750 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0042 | 1 | 328 | 0.0031 | -10 | c.729 others(27): Show |
BOLL | ENSG00000152430.19 | transcript | ENST00000392296.9 | protein_coding | 9/10 | chr2 | TogoVar | ||||||
BOLL_chr2_197721890_197790319 | 197784391 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00639.hp1 HG00733.hp1 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0007a0001c0001t0001g0010a0001c0001t0001g0011others(32): Show | 45 | 328 | 0.1372 | -10 | c.-16 others(25): Show |
BOLL | ENSG00000152430.19 | transcript | ENST00000392296.9 | protein_coding | 1/10 | chr2 | TogoVar | ||||||
BOP1_chr8_144257045_144296438 | 144280584 | GGCTCACA others(3): Show |
G | intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0262 | 1 | 398 | 0.0025 | -10 | c.310 others(27): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 2/15 | chr8 | TogoVar | ||||||
BORA_chr13_72722923_72761196 | 72724733 | TATATATA others(3): Show |
T | upstream_gene_variant | MODIFIER | HG01978.hp2 HG01981.hp1 HG02074.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0113a0001c0001t0001g0137a0001c0002t0001g0002others(4): Show | 11 | 388 | 0.0284 | -10 | c.-32 others(21): Show |
BORA | ENSG00000136122.18 | transcript | ENST00000390667.11 | protein_coding | 3189 | chr13 | TogoVar | ||||||
BORA_chr13_72722923_72761196 | 72742763 | TATATACA others(3): Show |
T | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 388 | 0.0026 | -10 | c.389 others(25): Show |
BORA | ENSG00000136122.18 | transcript | ENST00000390667.11 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
BORA_chr13_72722923_72761196 | 72742765 | TATACACA others(3): Show |
T | intron_variant | MODIFIER | HG00741.hp1 NA18964.hp2 NA19010.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0140a0001c0001t0002g0058a0001c0001t0003g0139 | 3 | 388 | 0.0077 | -10 | c.389 others(25): Show |
BORA | ENSG00000136122.18 | transcript | ENST00000390667.11 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
BORA_chr13_72722923_72761196 | 72742767 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(198): Show |
a0001a0005a0006 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(95): Show | 201 | 388 | 0.5180 | -10 | c.389 others(25): Show |
BORA | ENSG00000136122.18 | transcript | ENST00000390667.11 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
BORA_chr13_72722923_72761196 | 72748728 | TTCTCTCT others(3): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(125): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0016others(78): Show | 128 | 388 | 0.3299 | -10 | c.148 others(29): Show |
BORA | ENSG00000136122.18 | transcript | ENST00000390667.11 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
BORCS7_chr10_102849259_102869961 | 102853646 | GTGTATAT others(3): Show |
G | upstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0125 | 1 | 454 | 0.0022 | -10 | c.-64 others(19): Show |
BORCS7 | ENSG00000166275.16 | transcript | ENST00000339834.10 | protein_coding | 612 | chr10 | TogoVar | ||||||
BORCS7_chr10_102849259_102869961 | 102853666 | ATGTATAT others(3): Show |
A | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00735.hp2 HG01516.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0029others(2): Show | 10 | 454 | 0.0220 | -10 | c.-62 others(19): Show |
BORCS7 | ENSG00000166275.16 | transcript | ENST00000339834.10 | protein_coding | 592 | chr10 | TogoVar | ||||||
BORCS8_chr19_19171906_19197152 | 19177686 | AAGGAAGG others(3): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG01516.hp1 HG01517.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0027a0001c0001t0003g0028a0001c0001t0003g0061others(2): Show | 7 | 428 | 0.0164 | -10 | c.*43 others(25): Show |
BORCS8 | ENSG00000254901.8 | transcript | ENST00000462790.8 | protein_coding | 5/5 | chr19 | TogoVar | ||||||
BORCS8_chr19_19171906_19197152 | 19177689 | GAAGGAAG others(3): Show |
G | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0158 | 1 | 428 | 0.0023 | -10 | c.*43 others(25): Show |
BORCS8 | ENSG00000254901.8 | transcript | ENST00000462790.8 | protein_coding | 5/5 | chr19 | TogoVar | ||||||
BORCS8_chr19_19171906_19197152 | 19177696 | GAGAAAAG others(3): Show |
G | intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 428 | 0.0023 | -10 | c.*43 others(25): Show |
BORCS8 | ENSG00000254901.8 | transcript | ENST00000462790.8 | protein_coding | 5/5 | chr19 | TogoVar | ||||||
BPGM_chr7_134641853_134684816 | 134665649 | GAAAAAAA others(3): Show |
G | intron_variant | MODIFIER | HG01255.hp2 HG02630.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186a0001c0001t0001g0187 | 2 | 362 | 0.0055 | -10 | c.601 others(27): Show |
BPGM | ENSG00000172331.12 | transcript | ENST00000344924.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BPGM_chr7_134641853_134684816 | 134682496 | AGTGTGTG others(3): Show |
A | downstream_gene_variant | MODIFIER | HG02723.hp1 HG04115.hp1 NA19240.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008 | a0001c0001t0001g0164a0001c0001t0001g0165a0001c0001t0002g0006others(1): Show | 4 | 362 | 0.0111 | -10 | c.*34 others(21): Show |
BPGM | ENSG00000172331.12 | transcript | ENST00000344924.8 | protein_coding | 2681 | chr7 | TogoVar | ||||||
BPHL_chr6_3113711_3158578 | 3121291 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01891.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0042a0001c0001t0002g0260a0001c0001t0005g0261others(4): Show | 8 | 350 | 0.0229 | -10 | c.108 others(27): Show |
BPHL | ENSG00000137274.13 | transcript | ENST00000380379.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BPHL_chr6_3113711_3158578 | 3158317 | GGTGTGTG others(3): Show |
G | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00544.hp1 others(60): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0003 | a0001c0001t0001a0001c0005t0002a0002c0003t0001 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0014others(44): Show | 63 | 350 | 0.1800 | -10 | c.*57 others(21): Show |
BPHL | ENSG00000137274.13 | transcript | ENST00000380379.10 | protein_coding | 4740 | chr6 | TogoVar | ||||||
BPIFA1_chr20_33230996_33248306 | 33237898 | ATGTGTGT others(3): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(93): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0010others(31): Show | 96 | 382 | 0.2513 | -10 | c.160 others(23): Show |
BPIFA1 | ENSG00000198183.13 | transcript | ENST00000354297.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
BPIFB1_chr20_33278214_33314871 | 33311466 | ATTGTTTT others(3): Show |
A | downstream_gene_variant | MODIFIER | HG02258.hp2 | a0011 | a0011c0014 | a0011c0014t0001 | a0011c0014t0001g0164 | 1 | 388 | 0.0026 | -10 | c.*17 others(21): Show |
BPIFB1 | ENSG00000125999.11 | transcript | ENST00000253354.2 | protein_coding | 1596 | chr20 | TogoVar | ||||||
BPIFB2_chr20_33002704_33028703 | 33007708 | AGAGGAGG others(3): Show |
A | 5_prime_UTR_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0096 | 1 | 388 | 0.0026 | -10 | c.-86 others(17): Show |
BPIFB2 | ENSG00000078898.7 | transcript | ENST00000170150.4 | protein_coding | 1/16 | 857 | chr20 | TogoVar | |||||
BPIFB2_chr20_33002704_33028703 | 33025753 | CCGTCTGC others(3): Show |
C | downstream_gene_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0083 | 1 | 388 | 0.0026 | -10 | c.*23 others(21): Show |
BPIFB2 | ENSG00000078898.7 | transcript | ENST00000170150.4 | protein_coding | 2051 | chr20 | TogoVar | ||||||
BPIFB3_chr20_33048903_33078847 | 33052540 | GTGTGTGT others(3): Show |
G | upstream_gene_variant | MODIFIER | HG03471.hp2 HG03654.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111a0001c0001t0001g0117 | 2 | 374 | 0.0054 | -10 | c.-14 others(21): Show |
BPIFB3 | ENSG00000186190.8 | transcript | ENST00000375494.4 | protein_coding | 1362 | chr20 | TogoVar | ||||||
BPIFB3_chr20_33048903_33078847 | 33052542 | GTGTGTGT others(3): Show |
G | upstream_gene_variant | MODIFIER | HG02055.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140a0001c0001t0001g0141 | 2 | 374 | 0.0054 | -10 | c.-14 others(21): Show |
BPIFB3 | ENSG00000186190.8 | transcript | ENST00000375494.4 | protein_coding | 1360 | chr20 | TogoVar | ||||||
BPIFB4_chr20_33074643_33116751 | 33113795 | TGCTCTGA others(3): Show |
T | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01167.hp2 HG02486.hp1 others(9): Show |
a0004a0005a0008others(3): Show | a0004c0004a0005c0006a0008c0008others(3): Show | a0004c0004t0001a0005c0006t0001a0008c0008t0001others(3): Show | a0004c0004t0001g0014a0004c0004t0001g0042a0004c0004t0001g0044others(8): Show | 12 | 344 | 0.0349 | -10 | c.*23 others(21): Show |
BPIFB4 | ENSG00000186191.9 | transcript | ENST00000375483.4 | protein_coding | 2045 | chr20 | TogoVar | ||||||
BPIFB6_chr20_33026648_33049047 | 33048740 | GGGGTGTG others(3): Show |
G | downstream_gene_variant | MODIFIER | HG03130.hp1 | a0006 | a0006c0006 | a0006c0006t0000 | a0006c0006t0000g0061 | 1 | 384 | 0.0026 | -10 | c.*46 others(21): Show |
BPIFB6 | ENSG00000167104.11 | transcript | ENST00000349552.1 | protein_coding | 4694 | chr20 | TogoVar | ||||||
BPIFC_chr22_32408845_32469446 | 32424689 | CTTCCTCT others(3): Show |
C | intron_variant | MODIFIER | NA18968.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0108 | 1 | 422 | 0.0024 | -10 | c.121 others(29): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | ||||||
BPIFC_chr22_32408845_32469446 | 32450093 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(113): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0002a0003c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0062a0001c0001t0001g0071a0001c0001t0001g0075others(112): Show | 116 | 422 | 0.2749 | -10 | c.246 others(27): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 4/16 | chr22 | TogoVar |