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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BOC_chr3_113206557_113292459 | 113250112 | C | CAGA | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG00558.hp1 others(47): Show |
a0001a0003a0004 | a0001c0006a0001c0008a0001c0013others(7): Show | a0001c0006t0013a0001c0006t0050a0001c0006t0051others(15): Show | a0001c0006t0013g0104 a0001c0006t0013g0246 a0001c0006t0013g0253 others(45): Show |
50 | 386 | 0.1295 | 3 | c.97+ others(16): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 3/19 | chr3 | TogoVar | |||||||
BOD1L1_chr4_13563738_13632725 | 13584768 | G | GTCT | intron_variant | MODIFIER | HG02145.hp1 HG02257.hp2 HG02280.hp1 others(11): Show |
a0001a0005a0008others(1): Show | a0001c0001a0005c0005a0008c0009others(1): Show | a0001c0001t0002a0005c0005t0002a0008c0009t0002others(1): Show | a0001c0001t0002g0097 a0005c0005t0002g0002 a0005c0005t0002g0176 others(5): Show |
14 | 258 | 0.0543 | 3 | c.843 others(22): Show |
BOD1L1 | ENSG00000038219.13 | transcript | ENST00000040738.10 | protein_coding | 17/25 | chr4 | TogoVar | |||||||
BOD1L1_chr4_13563738_13632725 | 13599332 | A | ATGC | conservative_inframe_insertion | MODERATE | HG01243.hp2 HG02723.hp1 HG02895.hp1 others(4): Show |
a0006a0022 | a0006c0007a0006c0015a0022c0029 | a0006c0007t0001a0006c0015t0001a0022c0029t0001 | a0006c0007t0001g0149 a0006c0007t0001g0150 a0006c0007t0001g0153 others(4): Show |
7 | 258 | 0.0271 | 3 | c.756 others(12): Show |
p.Ser others(7): Show |
BOD1L1 | ENSG00000038219.13 | transcript | ENST00000040738.10 | protein_coding | 10/26 | 7705/10567 | 7567/9156 | 2523/3051 | chr4 | TogoVar | |||
BOD1L1_chr4_13563738_13632725 | 13619305 | T | TAAA | intron_variant | MODIFIER | HG02145.hp1 NA18998.hp2 NA19000.hp1 others(2): Show |
a0001a0004a0005others(1): Show | a0001c0001a0004c0004a0005c0005others(1): Show | a0001c0001t0001a0004c0004t0007a0005c0005t0002others(1): Show | a0001c0001t0001g0040 a0001c0001t0001g0112 a0004c0004t0007g0038 others(2): Show |
5 | 258 | 0.0194 | 3 | c.368 others(18): Show |
BOD1L1 | ENSG00000038219.13 | transcript | ENST00000040738.10 | protein_coding | 2/25 | chr4 | TogoVar | |||||||
BOD1L1_chr4_13563738_13632725 | 13625062 | T | TAGA | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG00738.hp2 others(40): Show |
a0003a0005a0008others(7): Show | a0003c0003a0003c0036a0005c0005others(8): Show | a0003c0003t0001a0003c0036t0001a0005c0005t0002others(9): Show | a0003c0003t0001g0001 a0003c0003t0001g0017 a0003c0003t0001g0031 others(24): Show |
43 | 258 | 0.1667 | 3 | c.243 others(20): Show |
BOD1L1 | ENSG00000038219.13 | transcript | ENST00000040738.10 | protein_coding | 1/25 | chr4 | TogoVar | |||||||
BOD1_chr5_173602145_173621650 | 173602772 | G | GTTT | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(3): Show | a0001c0001t0002g0002 a0001c0001t0002g0013 a0001c0001t0003g0004 others(6): Show |
33 | 416 | 0.0793 | 3 | c.*55 others(14): Show |
BOD1 | ENSG00000145919.11 | transcript | ENST00000311086.9 | protein_coding | 4372 | chr5 | TogoVar | |||||||
BOK_chr2_241553745_241579131 | 241556581 | C | CAAA | upstream_gene_variant | MODIFIER | HG00642.hp2 HG01099.hp2 HG01891.hp1 others(37): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0021 a0001c0001t0001g0031 others(27): Show |
40 | 434 | 0.0922 | 3 | c.-24 others(14): Show |
BOK | ENSG00000176720.6 | transcript | ENST00000318407.5 | protein_coding | 2163 | chr2 | TogoVar | |||||||
BOLA2B_chr16_30187932_30198666 | 30190095 | A | ATAT | downstream_gene_variant | MODIFIER | HG01256.hp2 HG02300.hp1 HG02523.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0002g0003 |
9 | 254 | 0.0354 | 3 | c.*28 others(14): Show |
BOLA2B | ENSG00000169627.9 | transcript | ENST00000651894.2 | protein_coding | 2836 | chr16 | TogoVar | |||||||
BOLA2B_chr16_30187932_30198666 | 30190120 | A | ATTT | downstream_gene_variant | MODIFIER | HG00323.hp1 HG01346.hp1 HG02055.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 20 | 254 | 0.0787 | 3 | c.*28 others(14): Show |
BOLA2B | ENSG00000169627.9 | transcript | ENST00000651894.2 | protein_coding | 2811 | chr16 | TogoVar | |||||||
BOLA2B_chr16_30187932_30198666 | 30198058 | C | CTTT | upstream_gene_variant | MODIFIER | HG02698.hp1 HG02698.hp2 HG02717.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 9 | 254 | 0.0354 | 3 | c.-44 others(14): Show |
BOLA2B | ENSG00000169627.9 | transcript | ENST00000651894.2 | protein_coding | 4393 | chr16 | TogoVar | |||||||
BOLA2_chr16_29448593_29459351 | 29458716 | C | CTTT | upstream_gene_variant | MODIFIER | NA18943.hp2 NA18947.hp2 NA18966.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 10 | 174 | 0.0575 | 3 | c.-44 others(14): Show |
BOLA2 | ENSG00000183336.9 | transcript | ENST00000330978.4 | protein_coding | 4366 | chr16 | TogoVar | |||||||
BOLA3_chr2_74130400_74152912 | 74135332 | T | TAGC | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp1 others(356): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(189): Show |
359 | 434 | 0.8272 | 3 | c.*26 others(12): Show |
BOLA3 | ENSG00000163170.12 | transcript | ENST00000327428.10 | protein_coding | 67 | chr2 | TogoVar | |||||||
BOLA3_chr2_74130400_74152912 | 74150043 | C | CAAA | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00597.hp1 others(76): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 others(43): Show |
79 | 434 | 0.1820 | 3 | c.-21 others(14): Show |
BOLA3 | ENSG00000163170.12 | transcript | ENST00000327428.10 | protein_coding | 2132 | chr2 | TogoVar | |||||||
BOLA3_chr2_74130400_74152912 | 74151062 | A | ATTT | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(126): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 others(69): Show |
129 | 434 | 0.2972 | 3 | c.-31 others(14): Show |
BOLA3 | ENSG00000163170.12 | transcript | ENST00000327428.10 | protein_coding | 3151 | chr2 | TogoVar | |||||||
BOLL_chr2_197721890_197790319 | 197747582 | C | CAAA | intron_variant | MODIFIER | HG01175.hp1 HG02145.hp1 NA18974.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012 | a0001c0001t0002g0055 a0001c0001t0002g0073 a0001c0001t0002g0076 others(4): Show |
7 | 328 | 0.0213 | 3 | c.730 others(20): Show |
BOLL | ENSG00000152430.19 | transcript | ENST00000392296.9 | protein_coding | 9/10 | chr2 | TogoVar | |||||||
BOP1_chr8_144257045_144296438 | 144263763 | T | TGAG | splice_region_variant others(1): Show |
LOW | HG02109.hp1 HG02257.hp2 HG02922.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0029 a0001c0002t0001g0034 a0001c0002t0001g0173 |
3 | 398 | 0.0075 | 3 | c.122 others(16): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 9/15 | chr8 | TogoVar | |||||||
BOP1_chr8_144257045_144296438 | 144263768 | A | AGGC | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(35): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0009 a0001c0001t0001g0050 a0001c0001t0001g0169 others(33): Show |
38 | 398 | 0.0955 | 3 | c.122 others(17): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 9/15 | chr8 | TogoVar | |||||||
BOP1_chr8_144257045_144296438 | 144283201 | C | CAAA | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp1 HG02055.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 others(15): Show |
18 | 398 | 0.0452 | 3 | c.309 others(20): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 2/15 | chr8 | TogoVar | |||||||
BORA_chr13_72722923_72761196 | 72724701 | A | ATAT | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG02273.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0016 others(1): Show |
4 | 388 | 0.0103 | 3 | c.-33 others(14): Show |
BORA | ENSG00000136122.18 | transcript | ENST00000390667.11 | protein_coding | 3221 | chr13 | TogoVar | |||||||
BORCS6_chr17_8183345_8195180 | 8185555 | C | CAAA | downstream_gene_variant | MODIFIER | HG00738.hp1 HG00741.hp1 HG01256.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0000 a0001c0002t0001g0000 |
11 | 416 | 0.0264 | 3 | c.*35 others(14): Show |
BORCS6 | ENSG00000196544.8 | transcript | ENST00000389017.6 | protein_coding | 2789 | chr17 | TogoVar | |||||||
BORCS6_chr17_8183345_8195180 | 8185582 | A | AAAG | downstream_gene_variant | MODIFIER | HG00597.hp1 HG01168.hp2 HG01192.hp1 others(28): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0000 a0001c0002t0002g0000 |
31 | 416 | 0.0745 | 3 | c.*34 others(14): Show |
BORCS6 | ENSG00000196544.8 | transcript | ENST00000389017.6 | protein_coding | 2762 | chr17 | TogoVar | |||||||
BORCS6_chr17_8183345_8195180 | 8194771 | C | CAAA | upstream_gene_variant | MODIFIER | HG00558.hp1 HG00735.hp2 HG00738.hp1 others(57): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0002t0002g0000 others(1): Show |
60 | 416 | 0.1442 | 3 | c.-46 others(14): Show |
BORCS6 | ENSG00000196544.8 | transcript | ENST00000389017.6 | protein_coding | 4592 | chr17 | TogoVar | |||||||
BORCS8_chr19_19171906_19197152 | 19174385 | A | ATTT | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00735.hp1 HG01070.hp2 others(24): Show |
a0001a0003a0008 | a0001c0001a0003c0003a0008c0006 | a0001c0001t0002a0001c0001t0003a0003c0003t0002others(1): Show | a0001c0001t0002g0014 a0001c0001t0002g0264 a0001c0001t0002g0265 others(20): Show |
27 | 428 | 0.0631 | 3 | c.*31 others(14): Show |
BORCS8 | ENSG00000254901.8 | transcript | ENST00000462790.8 | protein_coding | 2520 | chr19 | TogoVar | |||||||
BPGM_chr7_134641853_134684816 | 134646897 | G | GGCT | 5_prime_UTR_variant | MODIFIER | HG01099.hp1 HG01358.hp2 HG02257.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0006 a0001c0001t0002g0109 a0001c0001t0002g0110 others(9): Show |
15 | 362 | 0.0414 | 3 | c.-79 others(10): Show |
BPGM | ENSG00000172331.12 | transcript | ENST00000344924.8 | protein_coding | 1/3 | 14585 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BPGM_chr7_134641853_134684816 | 134648131 | G | GTTT | intron_variant | MODIFIER | HG00597.hp1 HG01099.hp1 HG01358.hp2 others(44): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0022 a0001c0001t0001g0037 others(20): Show |
47 | 362 | 0.1298 | 3 | c.-62 others(20): Show |
BPGM | ENSG00000172331.12 | transcript | ENST00000344924.8 | protein_coding | 1/2 | chr7 | TogoVar | |||||||
BPGM_chr7_134641853_134684816 | 134680693 | T | TATC | downstream_gene_variant | MODIFIER | HG02735.hp2 HG03471.hp2 HG04199.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0050 a0001c0001t0005g0041 a0001c0001t0005g0148 |
4 | 362 | 0.0111 | 3 | c.*16 others(14): Show |
BPGM | ENSG00000172331.12 | transcript | ENST00000344924.8 | protein_coding | 878 | chr7 | TogoVar | |||||||
BPHL_chr6_3113711_3158578 | 3116854 | C | CAAA | upstream_gene_variant | MODIFIER | HG01192.hp2 HG01243.hp2 HG02280.hp1 others(7): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0003a0001c0004t0006a0001c0004t0015 | a0001c0002t0003g0040 a0001c0004t0006g0016 a0001c0004t0006g0041 others(3): Show |
10 | 350 | 0.0286 | 3 | c.-18 others(14): Show |
BPHL | ENSG00000137274.13 | transcript | ENST00000380379.10 | protein_coding | 1856 | chr6 | TogoVar | |||||||
BPHL_chr6_3113711_3158578 | 3144382 | T | TTTG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(167): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0010others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(119): Show |
170 | 350 | 0.4857 | 3 | c.788 others(20): Show |
BPHL | ENSG00000137274.13 | transcript | ENST00000380379.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BPHL_chr6_3113711_3158578 | 3144391 | G | GTTT | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02486.hp1 others(4): Show |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0005a0001c0001t0012a0005c0009t0005 | a0001c0001t0005g0047 a0001c0001t0005g0262 a0001c0001t0005g0263 others(4): Show |
7 | 350 | 0.0200 | 3 | c.788 others(20): Show |
BPHL | ENSG00000137274.13 | transcript | ENST00000380379.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BPIFB2_chr20_33002704_33028703 | 33015599 | T | TAAA | intron_variant | MODIFIER | HG01109.hp2 HG01167.hp2 HG01243.hp1 others(41): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0002c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(7): Show | a0001c0001t0001g0137 a0001c0001t0002g0152 a0001c0001t0008g0063 others(29): Show |
44 | 388 | 0.1134 | 3 | c.516 others(18): Show |
BPIFB2 | ENSG00000078898.7 | transcript | ENST00000170150.4 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BPIFC_chr22_32408845_32469446 | 32410722 | C | CTTT | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(102): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0003c0003others(7): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(8): Show | a0001c0001t0001g0041 a0001c0001t0001g0050 a0001c0001t0001g0051 others(102): Show |
105 | 422 | 0.2488 | 3 | c.*35 others(14): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 3122 | chr22 | TogoVar | |||||||
BPIFC_chr22_32408845_32469446 | 32424574 | T | TTTC | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG00642.hp1 others(11): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0029 a0002c0002t0001g0065 a0002c0002t0001g0079 others(11): Show |
14 | 422 | 0.0332 | 3 | c.121 others(22): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | |||||||
BPIFC_chr22_32408845_32469446 | 32424642 | C | CTCT | intron_variant | MODIFIER | HG00735.hp2 HG01106.hp2 HG01175.hp2 others(9): Show |
a0002a0004 | a0002c0002a0004c0005 | a0002c0002t0001a0002c0002t0002a0004c0005t0001others(1): Show | a0002c0002t0001g0061 a0002c0002t0001g0241 a0002c0002t0001g0263 others(9): Show |
12 | 422 | 0.0284 | 3 | c.121 others(22): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | |||||||
BPIFC_chr22_32408845_32469446 | 32424741 | C | CTCT | intron_variant | MODIFIER | HG00280.hp1 HG02451.hp1 HG02486.hp1 others(2): Show |
a0001a0003a0006 | a0001c0001a0003c0003a0006c0006 | a0001c0001t0001a0003c0003t0003a0006c0006t0001 | a0001c0001t0001g0415 a0003c0003t0003g0014 a0006c0006t0001g0019 others(2): Show |
5 | 422 | 0.0119 | 3 | c.121 others(22): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | |||||||
BPIFC_chr22_32408845_32469446 | 32424750 | T | TTCC | intron_variant | MODIFIER | HG01361.hp1 HG02738.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0179 a0001c0001t0001g0382 a0001c0001t0002g0305 |
3 | 422 | 0.0071 | 3 | c.121 others(22): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | |||||||
BPIFC_chr22_32408845_32469446 | 32424753 | C | CTCT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG01516.hp1 others(6): Show |
a0002a0004 | a0002c0002a0004c0005 | a0002c0002t0001a0002c0002t0002a0004c0005t0001others(1): Show | a0002c0002t0001g0234 a0002c0002t0002g0100 a0002c0002t0002g0115 others(6): Show |
9 | 422 | 0.0213 | 3 | c.121 others(22): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | |||||||
BPIFC_chr22_32408845_32469446 | 32424771 | T | TTCC | intron_variant | MODIFIER | HG02559.hp1 HG02559.hp2 HG02572.hp1 others(4): Show |
a0003a0008 | a0003c0003a0008c0008 | a0003c0003t0001a0003c0003t0002a0008c0008t0001 | a0003c0003t0001g0023 a0003c0003t0001g0024 a0003c0003t0001g0129 others(4): Show |
7 | 422 | 0.0166 | 3 | c.121 others(22): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | |||||||
BPIFC_chr22_32408845_32469446 | 32434992 | A | AATG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(327): Show |
a0001a0002a0003others(15): Show | a0001c0001a0002c0002a0003c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0041 a0001c0001t0001g0050 a0001c0001t0001g0051 others(325): Show |
330 | 422 | 0.7820 | 3 | c.924 others(18): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 10/16 | chr22 | TogoVar | |||||||
BPIFC_chr22_32408845_32469446 | 32445713 | G | GAAA | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00438.hp2 others(77): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0003c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0009 a0001c0001t0001g0062 a0001c0001t0001g0071 others(76): Show |
80 | 422 | 0.1896 | 3 | c.531 others(16): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 6/16 | chr22 | TogoVar | |||||||
BPIFC_chr22_32408845_32469446 | 32455050 | C | CTTT | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(123): Show |
a0001a0002a0003others(9): Show | a0001c0001a0002c0002a0003c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(15): Show | a0001c0001t0001g0041 a0001c0001t0001g0062 a0001c0001t0001g0071 others(123): Show |
126 | 422 | 0.2986 | 3 | c.125 others(20): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 3/16 | chr22 | TogoVar | |||||||
BPI_chr20_38299156_38342505 | 38302460 | C | CAAT | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(87): Show |
a0001a0002a0003others(15): Show | a0001c0001a0002c0002a0002c0011others(16): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(26): Show | a0001c0001t0001g0037 a0001c0001t0001g0176 a0001c0001t0001g0244 others(82): Show |
90 | 426 | 0.2113 | 3 | c.-17 others(14): Show |
BPI | ENSG00000101425.14 | transcript | ENST00000642449.2 | protein_coding | 1695 | chr20 | TogoVar | |||||||
BPNT1_chr1_220052482_220094788 | 220076701 | T | TTAA | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp1 others(72): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(62): Show |
75 | 424 | 0.1769 | 3 | c.121 others(20): Show |
BPNT1 | ENSG00000162813.18 | transcript | ENST00000322067.12 | protein_coding | 2/8 | chr1 | TogoVar | |||||||
BPNT1_chr1_220052482_220094788 | 220078479 | A | AAAT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(298): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(273): Show |
301 | 424 | 0.7099 | 3 | c.120 others(20): Show |
BPNT1 | ENSG00000162813.18 | transcript | ENST00000322067.12 | protein_coding | 2/8 | chr1 | TogoVar | |||||||
BPNT1_chr1_220052482_220094788 | 220089101 | G | GAAA | intron_variant | MODIFIER | HG01243.hp2 HG02135.hp1 HG02572.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(2): Show | a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0002g0021 others(15): Show |
19 | 424 | 0.0448 | 3 | c.-9+ others(16): Show |
BPNT1 | ENSG00000162813.18 | transcript | ENST00000322067.12 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
BPNT2_chr8_56952931_56998867 | 56971782 | A | ACCC | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00609.hp1 others(55): Show |
a0001a0005a0008 | a0001c0001a0001c0002a0005c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(9): Show | a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0025 others(37): Show |
58 | 356 | 0.1629 | 3 | c.647 others(20): Show |
BPNT2 | ENSG00000104331.9 | transcript | ENST00000262644.9 | protein_coding | 3/4 | chr8 | TogoVar | |||||||
BPTF_chr17_67820503_67989378 | 67832642 | C | CATT | intron_variant | MODIFIER | HG02109.hp2 HG02723.hp2 HG02922.hp1 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0003 | a0001c0003t0002g0087 a0001c0003t0002g0088 a0001c0003t0003g0086 others(3): Show |
6 | 274 | 0.0219 | 3 | c.613 others(20): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BPTF_chr17_67820503_67989378 | 67842817 | C | CAAA | intron_variant | MODIFIER | HG01891.hp1 HG01981.hp2 HG02809.hp2 others(4): Show |
a0001a0002a0018others(2): Show | a0001c0005a0002c0002a0018c0018others(2): Show | a0001c0005t0005a0002c0002t0002a0018c0018t0002others(2): Show | a0001c0005t0005g0265 a0002c0002t0002g0197 a0002c0002t0002g0242 others(4): Show |
7 | 274 | 0.0256 | 3 | c.614 others(22): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BPTF_chr17_67820503_67989378 | 67845167 | A | AAGT | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(140): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0003a0001c0005others(25): Show | a0001c0001t0002a0001c0003t0002a0001c0003t0003others(27): Show | a0001c0001t0002g0080 a0001c0003t0002g0087 a0001c0003t0002g0088 others(140): Show |
143 | 274 | 0.5219 | 3 | c.614 others(20): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 1/27 | chr17 | TogoVar | |||||||
BPTF_chr17_67820503_67989378 | 67853595 | T | TTTA | intron_variant | MODIFIER | HG00558.hp1 HG01099.hp2 HG02109.hp2 others(13): Show |
a0001 | a0001c0001a0001c0003a0001c0009 | a0001c0001t0001a0001c0003t0002a0001c0003t0003others(1): Show | a0001c0001t0001g0131 a0001c0003t0002g0087 a0001c0003t0002g0088 others(13): Show |
16 | 274 | 0.0584 | 3 | c.614 others(18): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BPTF_chr17_67820503_67989378 | 67857148 | A | ATTT | intron_variant | MODIFIER | HG00438.hp2 HG00639.hp1 HG00735.hp1 others(22): Show |
a0001a0002a0009others(4): Show | a0001c0005a0002c0002a0009c0012others(4): Show | a0001c0005t0005a0002c0002t0002a0002c0002t0007others(5): Show | a0001c0005t0005g0100 a0001c0005t0005g0267 a0002c0002t0002g0014 others(22): Show |
25 | 274 | 0.0912 | 3 | c.143 others(22): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |