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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EPHA2_chr1_16119337_16161069 | 16136303 | A | AAATAATA others(8): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01884.hp1 HG02109.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0002t0001a0001c0005t0001 | a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0002t0001g0080 others(3): Show |
7 | 312 | 0.0224 | 15 | c.131 others(32): Show |
EPHA2 | ENSG00000142627.13 | transcript | ENST00000358432.8 | protein_coding | 5/16 | chr1 | TogoVar | |||||||
EPHA2_chr1_16119337_16161069 | 16136713 | A | AAAGAAGA others(8): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01123.hp2 HG01884.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0049 a0001c0001t0001g0101 a0001c0001t0001g0165 others(9): Show |
14 | 312 | 0.0449 | 15 | c.131 others(32): Show |
EPHA2 | ENSG00000142627.13 | transcript | ENST00000358432.8 | protein_coding | 5/16 | chr1 | TogoVar | |||||||
EPHA3_chr3_89102621_89487134 | 89136330 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00735.hp1 HG00741.hp1 others(20): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0004others(4): Show | a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0114 others(20): Show |
23 | 200 | 0.1150 | 15 | c.153 others(32): Show |
EPHA3 | ENSG00000044524.11 | transcript | ENST00000336596.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EPHA3_chr3_89102621_89487134 | 89219688 | G | GTGTTTTT others(8): Show |
intron_variant | MODIFIER | HG01258.hp1 HG01981.hp1 NA19070.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 a0001c0001t0001g0104 a0001c0001t0001g0122 others(2): Show |
5 | 200 | 0.0250 | 15 | c.814 others(32): Show |
EPHA3 | ENSG00000044524.11 | transcript | ENST00000336596.7 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EPHA3_chr3_89102621_89487134 | 89219688 | G | GTGTTTTT others(8): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 200 | 0.0050 | 15 | c.814 others(32): Show |
EPHA3 | ENSG00000044524.11 | transcript | ENST00000336596.7 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EPHA3_chr3_89102621_89487134 | 89352902 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02818.hp2 HG03139.hp1 others(3): Show |
a0002 | a0002c0005a0002c0013 | a0002c0005t0005a0002c0013t0005 | a0002c0005t0005g0084 a0002c0005t0005g0085 a0002c0005t0005g0086 others(3): Show |
6 | 200 | 0.0300 | 15 | c.130 others(36): Show |
EPHA3 | ENSG00000044524.11 | transcript | ENST00000336596.7 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EPHA4_chr2_221413027_221577304 | 221504344 | T | TGGAGGAG others(8): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00423.hp1 others(82): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0013 others(82): Show |
85 | 294 | 0.2891 | 15 | c.824 others(32): Show |
EPHA4 | ENSG00000116106.12 | transcript | ENST00000281821.7 | protein_coding | 3/17 | chr2 | TogoVar | |||||||
EPHA4_chr2_221413027_221577304 | 221566872 | A | AAGAAGAA others(8): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0195 | 1 | 294 | 0.0034 | 15 | c.159 others(32): Show |
EPHA4 | ENSG00000116106.12 | transcript | ENST00000281821.7 | protein_coding | 2/17 | chr2 | TogoVar | |||||||
EPHA4_chr2_221413027_221577304 | 221566872 | A | AAGAAGAA others(8): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0206 | 1 | 294 | 0.0034 | 15 | c.159 others(32): Show |
EPHA4 | ENSG00000116106.12 | transcript | ENST00000281821.7 | protein_coding | 2/17 | chr2 | TogoVar | |||||||
EPHA4_chr2_221413027_221577304 | 221566938 | G | GAGAAGAG others(8): Show |
intron_variant | MODIFIER | HG03516.hp1 NA18999.hp2 |
a0001 | a0001c0002 | a0001c0002t0007a0001c0002t0022 | a0001c0002t0007g0239 a0001c0002t0022g0090 |
2 | 294 | 0.0068 | 15 | c.159 others(32): Show |
EPHA4 | ENSG00000116106.12 | transcript | ENST00000281821.7 | protein_coding | 2/17 | chr2 | TogoVar | |||||||
EPHA4_chr2_221413027_221577304 | 221566944 | G | GAGAAGAG others(8): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0292 | 1 | 294 | 0.0034 | 15 | c.159 others(32): Show |
EPHA4 | ENSG00000116106.12 | transcript | ENST00000281821.7 | protein_coding | 2/17 | chr2 | TogoVar | |||||||
EPHA4_chr2_221413027_221577304 | 221566963 | G | GGAAGAAG others(8): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01433.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0031others(3): Show | a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0002g0044 others(5): Show |
8 | 294 | 0.0272 | 15 | c.159 others(32): Show |
EPHA4 | ENSG00000116106.12 | transcript | ENST00000281821.7 | protein_coding | 2/17 | chr2 | TogoVar | |||||||
EPHA4_chr2_221413027_221577304 | 221566969 | G | GGAAGAAG others(8): Show |
intron_variant | MODIFIER | HG01975.hp2 HG02523.hp2 HG04199.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0033 a0001c0001t0001g0151 a0001c0001t0001g0152 others(8): Show |
11 | 294 | 0.0374 | 15 | c.159 others(32): Show |
EPHA4 | ENSG00000116106.12 | transcript | ENST00000281821.7 | protein_coding | 2/17 | chr2 | TogoVar | |||||||
EPHA4_chr2_221413027_221577304 | 221566969 | G | GGAAGAGG others(8): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0136 | 1 | 294 | 0.0034 | 15 | c.159 others(32): Show |
EPHA4 | ENSG00000116106.12 | transcript | ENST00000281821.7 | protein_coding | 2/17 | chr2 | TogoVar | |||||||
EPHB1_chr3_134790260_135265467 | 134882765 | C | CCTTTCTT others(8): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01978.hp2 HG03471.hp1 |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0009a0001c0003t0001a0001c0004t0002 | a0001c0001t0009g0042 a0001c0003t0001g0048 a0001c0004t0002g0033 |
3 | 134 | 0.0224 | 15 | c.59- others(32): Show |
EPHB1 | ENSG00000154928.19 | transcript | ENST00000398015.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EPHB1_chr3_134790260_135265467 | 134882765 | C | CTTTCTTT others(8): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01884.hp1 HG02055.hp1 others(7): Show |
a0001a0003 | a0001c0002a0001c0003a0001c0004others(3): Show | a0001c0002t0002a0001c0003t0004a0001c0003t0005others(5): Show | a0001c0002t0002g0073 a0001c0003t0004g0119 a0001c0003t0005g0099 others(7): Show |
10 | 134 | 0.0746 | 15 | c.59- others(32): Show |
EPHB1 | ENSG00000154928.19 | transcript | ENST00000398015.8 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
EPHB1_chr3_134790260_135265467 | 134882813 | T | TTCTTTCT others(8): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0036 | 1 | 134 | 0.0075 | 15 | c.59- others(32): Show |
EPHB1 | ENSG00000154928.19 | transcript | ENST00000398015.8 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
EPHB1_chr3_134790260_135265467 | 135052890 | A | AAAAAAAT others(8): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0003 | a0003c0014 | a0003c0014t0002 | a0003c0014t0002g0031 | 1 | 134 | 0.0075 | 15 | c.806 others(34): Show |
EPHB1 | ENSG00000154928.19 | transcript | ENST00000398015.8 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EPHB1_chr3_134790260_135265467 | 135182986 | C | CTTTCTTT others(8): Show |
intron_variant | MODIFIER | HG00733.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0015a0001c0003t0001others(1): Show | a0001c0002t0001g0032 a0001c0002t0015g0108 a0001c0003t0001g0089 others(1): Show |
4 | 134 | 0.0299 | 15 | c.188 others(34): Show |
EPHB1 | ENSG00000154928.19 | transcript | ENST00000398015.8 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EPHB6_chr7_142850076_142876093 | 142865497 | G | GGCTTCTG others(8): Show |
conservative_inframe_insertion | MODERATE | HG06807.hp1 | a0008 | a0008c0016 | a0008c0016t0004 | a0008c0016t0004g0098 | 1 | 311 | 0.0032 | 15 | c.976 others(22): Show |
p.Ser others(13): Show |
EPHB6 | ENSG00000106123.12 | transcript | ENST00000652003.1 | protein_coding | 8/20 | 1732/3999 | 991/3069 | 331/1022 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
EPHX2_chr8_27486143_27550564 | 27487357 | A | ACTCTTCT others(8): Show |
upstream_gene_variant | MODIFIER | HG01074.hp2 HG01255.hp2 HG03239.hp2 others(4): Show |
a0001a0006 | a0001c0001a0006c0021 | a0001c0001t0001a0006c0021t0001 | a0001c0001t0001g0007 a0001c0001t0001g0114 a0001c0001t0001g0116 others(4): Show |
7 | 374 | 0.0187 | 15 | c.-38 others(26): Show |
EPHX2 | ENSG00000120915.14 | transcript | ENST00000521400.6 | protein_coding | 3785 | chr8 | TogoVar | |||||||
EPHX2_chr8_27486143_27550564 | 27501324 | T | TTTCTTCT others(8): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02055.hp1 HG03927.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 others(4): Show |
7 | 374 | 0.0187 | 15 | c.186 others(30): Show |
EPHX2 | ENSG00000120915.14 | transcript | ENST00000521400.6 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
EPHX2_chr8_27486143_27550564 | 27501389 | T | TCCTTCTT others(8): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02615.hp1 HG02647.hp2 others(1): Show |
a0003 | a0003c0006a0003c0007 | a0003c0006t0002a0003c0007t0004 | a0003c0006t0002g0310 a0003c0007t0004g0314 a0003c0007t0004g0315 others(1): Show |
4 | 374 | 0.0107 | 15 | c.186 others(30): Show |
EPHX2 | ENSG00000120915.14 | transcript | ENST00000521400.6 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
EPHX3_chr19_15221919_15237448 | 15229885 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03834.hp1 NA18612.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 a0001c0001t0001g0102 a0001c0001t0001g0103 |
3 | 374 | 0.0080 | 15 | c.616 others(32): Show |
EPHX3 | ENSG00000105131.8 | transcript | ENST00000221730.8 | protein_coding | 4/6 | chr19 | TogoVar | |||||||
EPN2_chr17_19232366_19341715 | 19276773 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02572.hp1 HG02622.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0003g0267 others(3): Show |
6 | 282 | 0.0213 | 15 | c.-29 others(34): Show |
EPN2 | ENSG00000072134.16 | transcript | ENST00000314728.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
EPN2_chr17_19232366_19341715 | 19276777 | T | TTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02258.hp1 HG02647.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 others(9): Show |
12 | 282 | 0.0426 | 15 | c.-29 others(34): Show |
EPN2 | ENSG00000072134.16 | transcript | ENST00000314728.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
EPN2_chr17_19232366_19341715 | 19276777 | T | TTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 | 1 | 282 | 0.0036 | 15 | c.-29 others(34): Show |
EPN2 | ENSG00000072134.16 | transcript | ENST00000314728.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
EPN2_chr17_19232366_19341715 | 19289724 | G | GTTTTGTT others(8): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01257.hp1 NA19070.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 a0001c0001t0001g0092 a0001c0001t0001g0093 |
3 | 282 | 0.0106 | 15 | c.766 others(32): Show |
EPN2 | ENSG00000072134.16 | transcript | ENST00000314728.10 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
EPN2_chr17_19232366_19341715 | 19289724 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00621.hp1 HG00642.hp2 others(19): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0018others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0148 a0001c0001t0001g0150 others(18): Show |
22 | 282 | 0.0780 | 15 | c.766 others(32): Show |
EPN2 | ENSG00000072134.16 | transcript | ENST00000314728.10 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
EPN2_chr17_19232366_19341715 | 19318549 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02109.hp2 HG02145.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(1): Show | a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0017 others(8): Show |
11 | 282 | 0.0390 | 15 | c.114 others(34): Show |
EPN2 | ENSG00000072134.16 | transcript | ENST00000314728.10 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
EPN3_chr17_50527735_50548750 | 50528897 | C | CGGAGGTG others(8): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 350 | 0.0029 | 15 | c.-42 others(26): Show |
EPN3 | ENSG00000049283.19 | transcript | ENST00000268933.8 | protein_coding | 3837 | chr17 | TogoVar | |||||||
EPN3_chr17_50527735_50548750 | 50530497 | C | CAAAAAAA others(8): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(235): Show |
a0001a0002a0004others(9): Show | a0001c0001a0001c0004a0002c0002others(13): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(22): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0012 others(80): Show |
238 | 350 | 0.6800 | 15 | c.-26 others(26): Show |
EPN3 | ENSG00000049283.19 | transcript | ENST00000268933.8 | protein_coding | 2237 | chr17 | TogoVar | |||||||
EPOR_chr19_11372207_11389314 | 11376540 | T | TTTAGTGG others(8): Show |
downstream_gene_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 404 | 0.0025 | 15 | c.*14 others(26): Show |
EPOR | ENSG00000187266.14 | transcript | ENST00000222139.11 | protein_coding | 666 | chr19 | TogoVar | |||||||
EPOR_chr19_11372207_11389314 | 11384703 | C | CTCTCTCT others(8): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 HG02074.hp1 HG02280.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0010 |
6 | 404 | 0.0149 | 15 | c.-49 others(24): Show |
EPOR | ENSG00000187266.14 | transcript | ENST00000222139.11 | protein_coding | 390 | chr19 | TogoVar | |||||||
EPPIN_chr20_45535626_45552401 | 45548607 | C | CCTCTTCT others(8): Show |
upstream_gene_variant | MODIFIER | HG02080.hp1 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005 | 2 | 438 | 0.0046 | 15 | c.-12 others(26): Show |
EPPIN | ENSG00000101448.14 | transcript | ENST00000354280.9 | protein_coding | 1207 | chr20 | TogoVar | |||||||
EPS15L1_chr19_16350247_16476970 | 16475698 | C | CTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 HG01928.hp2 HG01943.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 others(7): Show |
10 | 276 | 0.0362 | 15 | c.-37 others(26): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 3729 | chr19 | TogoVar | |||||||
EPS15_chr1_51349263_51524266 | 51357391 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0005 | a0005c0011 | a0005c0011t0025 | a0005c0011t0025g0140 | 1 | 152 | 0.0066 | 15 | c.254 others(32): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | TogoVar | |||||||
EPS15_chr1_51349263_51524266 | 51357391 | A | AAAAAAAT others(8): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0002 | a0002c0001 | a0002c0001t0010 | a0002c0001t0010g0041 | 1 | 152 | 0.0066 | 15 | c.254 others(32): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | TogoVar | |||||||
EPS15_chr1_51349263_51524266 | 51391455 | T | TAATAAAA others(8): Show |
intron_variant | MODIFIER | HG02630.hp1 NA19240.hp2 |
a0002 | a0002c0001 | a0002c0001t0004 | a0002c0001t0004g0038 a0002c0001t0004g0039 |
2 | 152 | 0.0132 | 15 | c.211 others(34): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | TogoVar | |||||||
EPS15_chr1_51349263_51524266 | 51400712 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01516.hp1 HG01517.hp1 |
a0002 | a0002c0001 | a0002c0001t0008 | a0002c0001t0008g0120 a0002c0001t0008g0121 |
2 | 152 | 0.0132 | 15 | c.191 others(32): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 19/24 | chr1 | TogoVar | |||||||
EPS15_chr1_51349263_51524266 | 51503006 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0001 | a0002c0001t0011 | a0002c0001t0011g0130 | 1 | 152 | 0.0066 | 15 | c.33+ others(32): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | TogoVar | |||||||
EPS15_chr1_51349263_51524266 | 51508186 | G | GAGAAAAG others(8): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01175.hp1 HG03041.hp2 others(3): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0001c0002t0003a0001c0002t0013others(1): Show | a0001c0002t0001g0085 a0001c0002t0001g0088 a0001c0002t0001g0113 others(3): Show |
6 | 152 | 0.0395 | 15 | c.33+ others(32): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | TogoVar | |||||||
EPS15_chr1_51349263_51524266 | 51508231 | A | AGAGAGAG others(8): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0002 | a0002c0001 | a0002c0001t0007 | a0002c0001t0007g0135 | 1 | 152 | 0.0066 | 15 | c.33+ others(32): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | TogoVar | |||||||
EPSTI1_chr13_42881388_42997241 | 42938914 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02615.hp2 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0050 | a0001c0001t0014g0344 a0001c0001t0050g0348 |
2 | 352 | 0.0057 | 15 | c.564 others(34): Show |
EPSTI1 | ENSG00000133106.15 | transcript | ENST00000313624.12 | protein_coding | 6/10 | chr13 | TogoVar | |||||||
EPSTI1_chr13_42881388_42997241 | 42965707 | C | CTCTCCCT others(8): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0269 | 1 | 352 | 0.0028 | 15 | c.332 others(32): Show |
EPSTI1 | ENSG00000133106.15 | transcript | ENST00000313624.12 | protein_coding | 3/10 | chr13 | TogoVar | |||||||
EPSTI1_chr13_42881388_42997241 | 42965713 | C | CTCTCCCT others(8): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01192.hp1 HG01516.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0017a0001c0001t0020others(2): Show | a0001c0001t0004g0162 a0001c0001t0004g0173 a0001c0001t0017g0159 others(5): Show |
8 | 352 | 0.0227 | 15 | c.332 others(32): Show |
EPSTI1 | ENSG00000133106.15 | transcript | ENST00000313624.12 | protein_coding | 3/10 | chr13 | TogoVar | |||||||
EPSTI1_chr13_42881388_42997241 | 42968954 | A | ACACACAC others(8): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00735.hp2 HG01074.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0004a0001c0001t0013a0001c0001t0015others(15): Show | a0001c0001t0004g0167 a0001c0001t0013g0118 a0001c0001t0015g0194 others(24): Show |
27 | 352 | 0.0767 | 15 | c.331 others(30): Show |
EPSTI1 | ENSG00000133106.15 | transcript | ENST00000313624.12 | protein_coding | 3/10 | chr13 | TogoVar | |||||||
ERAP2_chr5_96871500_96924703 | 96874136 | G | GAGAAGAA others(8): Show |
upstream_gene_variant | MODIFIER | HG01123.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0100 | 1 | 398 | 0.0025 | 15 | c.-25 others(26): Show |
ERAP2 | ENSG00000164308.17 | transcript | ENST00000437043.8 | protein_coding | 2363 | chr5 | TogoVar | |||||||
ERBB3_chr12_56075165_56108505 | 56091299 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0041 | 1 | 392 | 0.0026 | 15 | c.111 others(34): Show |
ERBB3 | ENSG00000065361.17 | transcript | ENST00000267101.8 | protein_coding | 9/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERBB3_chr12_56075165_56108505 | 56091300 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0003 | a0002c0003t0001g0024 a0002c0003t0003g0024 |
2 | 392 | 0.0051 | 15 | c.111 others(34): Show |
ERBB3 | ENSG00000065361.17 | transcript | ENST00000267101.8 | protein_coding | 9/27 | chr12 | TogoVar |