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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EMC8_chr16_85773624_85804544 | 85795200 | A | ATTCCAAA others(6): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0121 a0001c0001t0004g0152 |
2 | 408 | 0.0049 | 13 | c.231 others(30): Show |
EMC8 | ENSG00000131148.9 | transcript | ENST00000253457.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
EMCN_chr4_100390341_100523022 | 100473365 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0016 | 1 | 262 | 0.0038 | 13 | c.259 others(30): Show |
EMCN | ENSG00000164035.10 | transcript | ENST00000296420.9 | protein_coding | 3/11 | chr4 | TogoVar | |||||||
EMD_chrX_154374295_154386523 | 154375871 | C | CAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG02027.hp1 HG02056.hp1 HG02132.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(1): Show |
18 | 284 | 0.0634 | 13 | c.-36 others(24): Show |
EMD | ENSG00000102119.12 | transcript | ENST00000369842.9 | protein_coding | 3423 | chrX | TogoVar | |||||||
EMD_chrX_154374295_154386523 | 154383523 | G | GCCCACCT others(6): Show |
downstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 284 | 0.0035 | 13 | c.*23 others(24): Show |
EMD | ENSG00000102119.12 | transcript | ENST00000369842.9 | protein_coding | 2001 | chrX | TogoVar | |||||||
EMID1_chr22_29200896_29264597 | 29250733 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 348 | 0.0029 | 13 | c.112 others(32): Show |
EMID1 | ENSG00000186998.16 | transcript | ENST00000334018.11 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
EMID1_chr22_29200896_29264597 | 29263232 | A | ATGGCTAC others(6): Show |
downstream_gene_variant | MODIFIER | NA18947.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0139 | 1 | 348 | 0.0029 | 13 | c.*42 others(24): Show |
EMID1 | ENSG00000186998.16 | transcript | ENST00000334018.11 | protein_coding | 3636 | chr22 | TogoVar | |||||||
EML1_chr14_99788413_99947060 | 99790865 | C | CTTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG02630.hp2 HG03041.hp2 HG03927.hp1 |
a0001a0003 | a0001c0003a0003c0002 | a0001c0003t0002a0003c0002t0001 | a0001c0003t0002g0105 a0001c0003t0002g0106 a0003c0002t0001g0124 |
3 | 288 | 0.0104 | 13 | c.-26 others(24): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 2547 | chr14 | TogoVar | |||||||
EML4_chr2_42164353_42337548 | 42207135 | C | CTAAAAGT others(6): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0089 | 1 | 358 | 0.0028 | 13 | c.25+ others(30): Show |
EML4 | ENSG00000143924.19 | transcript | ENST00000318522.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EML4_chr2_42164353_42337548 | 42221403 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0346 | 1 | 358 | 0.0028 | 13 | c.26- others(30): Show |
EML4 | ENSG00000143924.19 | transcript | ENST00000318522.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EML4_chr2_42164353_42337548 | 42245094 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02055.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0007a0003c0003t0002 | a0001c0001t0007g0016 a0003c0003t0002g0284 |
2 | 358 | 0.0056 | 13 | c.26- others(26): Show |
EML4 | ENSG00000143924.19 | transcript | ENST00000318522.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EML4_chr2_42164353_42337548 | 42325596 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0075 | 1 | 358 | 0.0028 | 13 | c.224 others(28): Show |
EML4 | ENSG00000143924.19 | transcript | ENST00000318522.10 | protein_coding | 20/22 | chr2 | TogoVar | |||||||
EML4_chr2_42164353_42337548 | 42325602 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0291 | 1 | 358 | 0.0028 | 13 | c.224 others(28): Show |
EML4 | ENSG00000143924.19 | transcript | ENST00000318522.10 | protein_coding | 20/22 | chr2 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88611240 | C | CTCAGCCT others(6): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(299): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0003a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0210 others(296): Show |
302 | 332 | 0.9096 | 13 | c.*45 others(24): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 1190 | chr14 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88759698 | A | AAAACAAA others(6): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02976.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0036 | a0001c0001t0022g0203 a0001c0001t0022g0204 a0001c0001t0036g0205 |
3 | 332 | 0.0090 | 13 | c.198 others(30): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 1/43 | chr14 | TogoVar | |||||||
EML6_chr2_54718662_54977025 | 54843964 | T | TGTGTGTG others(6): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0006 | a0001c0006t0018 | a0001c0006t0018g0039 | 1 | 264 | 0.0038 | 13 | c.848 others(26): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 7/41 | chr2 | TogoVar | |||||||
EML6_chr2_54718662_54977025 | 54882857 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03239.hp1 NA18994.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0005a0001c0005t0008 | a0001c0001t0005g0243 a0001c0005t0008g0098 |
2 | 264 | 0.0076 | 13 | c.243 others(32): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 17/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54941975 | A | AAGGCCTA others(6): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0157 | 1 | 264 | 0.0038 | 13 | c.400 others(32): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54961184 | G | GTTGTTTT others(6): Show |
intron_variant | MODIFIER | HG01358.hp2 HG01978.hp1 HG03098.hp1 others(2): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0023 | a0001c0001t0001a0001c0002t0006a0005c0023t0017 | a0001c0001t0001g0147 a0001c0001t0001g0203 a0001c0002t0006g0006 others(2): Show |
5 | 264 | 0.0189 | 13 | c.496 others(30): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 35/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EMP2_chr16_10523422_10585598 | 10523831 | G | GCAAGCAA others(6): Show |
downstream_gene_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0067 | 1 | 402 | 0.0025 | 13 | c.*90 others(24): Show |
EMP2 | ENSG00000213853.10 | transcript | ENST00000359543.8 | protein_coding | 4590 | chr16 | TogoVar | |||||||
EMP2_chr16_10523422_10585598 | 10575237 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | NA19074.hp2 NA21309.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0024a0001c0002t0102 | a0001c0001t0024g0096 a0001c0002t0102g0031 |
2 | 402 | 0.0050 | 13 | c.-61 others(30): Show |
EMP2 | ENSG00000213853.10 | transcript | ENST00000359543.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
EMP3_chr19_48320552_48335553 | 48331198 | C | CTCTCTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0031 | 1 | 376 | 0.0027 | 13 | c.*72 others(22): Show |
EMP3 | ENSG00000142227.11 | transcript | ENST00000270221.11 | protein_coding | 646 | chr19 | TogoVar | |||||||
EMP3_chr19_48320552_48335553 | 48331198 | C | CTCTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | NA20905.hp1 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0016 |
2 | 376 | 0.0053 | 13 | c.*72 others(22): Show |
EMP3 | ENSG00000142227.11 | transcript | ENST00000270221.11 | protein_coding | 646 | chr19 | TogoVar | |||||||
EMP3_chr19_48320552_48335553 | 48331198 | C | CTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0021 | 1 | 376 | 0.0027 | 13 | c.*72 others(22): Show |
EMP3 | ENSG00000142227.11 | transcript | ENST00000270221.11 | protein_coding | 646 | chr19 | TogoVar | |||||||
EN2_chr7_155453129_155469831 | 155455988 | T | TGGGCGGG others(6): Show |
upstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0012 | a0001c0012t0043 | a0001c0012t0043g0007 | 1 | 432 | 0.0023 | 13 | c.-23 others(24): Show |
EN2 | ENSG00000164778.4 | transcript | ENST00000297375.4 | protein_coding | 2140 | chr7 | TogoVar | |||||||
ENAH_chr1_225481829_225658123 | 225608815 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01258.hp2 HG02572.hp2 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0008a0003c0003t0008 | a0002c0002t0008g0276 a0003c0003t0008g0298 |
2 | 308 | 0.0065 | 13 | c.6-4 others(28): Show |
ENAH | ENSG00000154380.19 | transcript | ENST00000366843.7 | protein_coding | 1/13 | chr1 | TogoVar | |||||||
ENAH_chr1_225481829_225658123 | 225623715 | A | AGCTGGGA others(6): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0262 | 1 | 308 | 0.0033 | 13 | c.5+2 others(28): Show |
ENAH | ENSG00000154380.19 | transcript | ENST00000366843.7 | protein_coding | 1/13 | chr1 | TogoVar | |||||||
ENAM_chr4_70623744_70651824 | 70648902 | C | CTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG02004.hp1 HG02486.hp2 HG02976.hp2 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0017 a0003c0003t0003g0066 |
4 | 410 | 0.0098 | 13 | c.*40 others(24): Show |
ENAM | ENSG00000132464.13 | transcript | ENST00000396073.4 | protein_coding | 2079 | chr4 | TogoVar | |||||||
ENDOD1_chr11_95084846_95137645 | 95108535 | A | ACACACAC others(6): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0058 | 1 | 368 | 0.0027 | 13 | c.300 others(32): Show |
ENDOD1 | ENSG00000149218.5 | transcript | ENST00000278505.5 | protein_coding | 1/1 | chr11 | TogoVar | |||||||
ENDOU_chr12_47704734_47730490 | 47728284 | C | CACACACG others(6): Show |
upstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 422 | 0.0024 | 13 | c.-28 others(24): Show |
ENDOU | ENSG00000111405.9 | transcript | ENST00000422538.8 | protein_coding | 2795 | chr12 | TogoVar | |||||||
ENG_chr9_127810016_127859658 | 127843756 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | HG01346.hp1 HG03130.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0035 a0001c0002t0001g0296 |
2 | 344 | 0.0058 | 13 | c.68- others(26): Show |
ENG | ENSG00000106991.14 | transcript | ENST00000373203.9 | protein_coding | 1/14 | chr9 | TogoVar | |||||||
ENG_chr9_127810016_127859658 | 127853547 | A | AGACGAAA others(6): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0052 | 1 | 344 | 0.0029 | 13 | c.67+ others(26): Show |
ENG | ENSG00000106991.14 | transcript | ENST00000373203.9 | protein_coding | 1/14 | chr9 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 667992 | A | ATTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00558.hp1 others(62): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(2): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0017others(9): Show | a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0022 others(60): Show |
65 | 418 | 0.1555 | 13 | c.*63 others(24): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 2325 | chr18 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 706816 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02109.hp2 HG02922.hp1 others(3): Show |
a0001 | a0001c0006 | a0001c0006t0004 | a0001c0006t0004g0006 a0001c0006t0004g0149 a0001c0006t0004g0237 others(2): Show |
6 | 418 | 0.0144 | 13 | c.85- others(26): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 1/15 | chr18 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43247881 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0187 | 1 | 188 | 0.0053 | 13 | c.161 others(34): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 14/16 | chr13 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43247883 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0175 | 1 | 188 | 0.0053 | 13 | c.161 others(34): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 14/16 | chr13 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43247883 | A | ATATATTT others(6): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0128 | 1 | 188 | 0.0053 | 13 | c.161 others(34): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 14/16 | chr13 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43247883 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0183 | 1 | 188 | 0.0053 | 13 | c.161 others(34): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 14/16 | chr13 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43417242 | C | CGGGAGAC others(6): Show |
intron_variant | MODIFIER | HG03041.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0115 a0001c0001t0004g0116 |
2 | 188 | 0.0106 | 13 | c.-74 others(30): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43541173 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0005 | 1 | 188 | 0.0053 | 13 | c.-21 others(34): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 2/16 | chr13 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43616204 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG00609.hp2 HG02071.hp2 NA18999.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0022 a0001c0001t0002g0061 a0001c0001t0003g0059 |
3 | 188 | 0.0160 | 13 | c.-21 others(34): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 2/16 | chr13 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43616204 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG01943.hp1 HG02083.hp1 NA20300.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0023a0001c0002t0001 | a0001c0001t0008g0047 a0001c0001t0023g0132 a0001c0002t0001g0079 |
3 | 188 | 0.0160 | 13 | c.-21 others(34): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 2/16 | chr13 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43772749 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02572.hp1 HG03486.hp2 HG03579.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0009a0001c0002t0001 | a0001c0001t0004g0045 a0001c0001t0009g0072 a0001c0002t0001g0046 |
3 | 188 | 0.0160 | 13 | c.-28 others(34): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 1/16 | chr13 | TogoVar | |||||||
ENOX2_chrX_130617325_130908209 | 130682583 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03540.hp2 HG06807.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 |
3 | 154 | 0.0195 | 13 | c.254 others(30): Show |
ENOX2 | ENSG00000165675.19 | transcript | ENST00000394363.6 | protein_coding | 5/14 | chrX | TogoVar | |||||||
ENOX2_chrX_130617325_130908209 | 130869738 | A | ACTTCCAC others(6): Show |
intron_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 154 | 0.0065 | 13 | c.-18 others(34): Show |
ENOX2 | ENSG00000165675.19 | transcript | ENST00000394363.6 | protein_coding | 2/14 | chrX | TogoVar | |||||||
ENPP1_chr6_131803020_131900155 | 131877866 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0078 | 1 | 292 | 0.0034 | 13 | c.189 others(30): Show |
ENPP1 | ENSG00000197594.14 | transcript | ENST00000647893.1 | protein_coding | 18/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ENPP1_chr6_131803020_131900155 | 131877866 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0273 | 1 | 292 | 0.0034 | 13 | c.189 others(30): Show |
ENPP1 | ENSG00000197594.14 | transcript | ENST00000647893.1 | protein_coding | 18/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ENPP1_chr6_131803020_131900155 | 131877866 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0002 | a0002c0002 | a0002c0002t0022 | a0002c0002t0022g0046 | 1 | 292 | 0.0034 | 13 | c.189 others(30): Show |
ENPP1 | ENSG00000197594.14 | transcript | ENST00000647893.1 | protein_coding | 18/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ENPP1_chr6_131803020_131900155 | 131877866 | A | AAAAAAAT others(6): Show |
intron_variant | MODIFIER | HG02630.hp2 NA19011.hp2 |
a0002 | a0002c0002 | a0002c0002t0004a0002c0002t0079 | a0002c0002t0004g0009 a0002c0002t0079g0210 |
2 | 292 | 0.0069 | 13 | c.189 others(30): Show |
ENPP1 | ENSG00000197594.14 | transcript | ENST00000647893.1 | protein_coding | 18/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ENPP1_chr6_131803020_131900155 | 131891328 | C | CCAGTCAG others(6): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00735.hp2 HG00741.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0087 | a0001c0001t0014g0244 a0001c0001t0014g0245 a0001c0001t0014g0254 others(2): Show |
5 | 292 | 0.0171 | 13 | c.*82 others(22): Show |
ENPP1 | ENSG00000197594.14 | transcript | ENST00000647893.1 | protein_coding | 25/25 | 828 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ENPP2_chr8_119552086_119643839 | 119573408 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02559.hp1 HG02559.hp2 others(3): Show |
a0001a0005 | a0001c0004a0005c0011 | a0001c0004t0002a0001c0004t0003a0005c0011t0002 | a0001c0004t0002g0015 a0001c0004t0002g0035 a0001c0004t0002g0056 others(3): Show |
6 | 340 | 0.0177 | 13 | c.178 others(32): Show |
ENPP2 | ENSG00000136960.13 | transcript | ENST00000075322.11 | protein_coding | 19/24 | chr8 | TogoVar |