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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DDX60_chr4_168211294_168323752 | 168286422 | C | CACACACC others(22): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02622.hp2 HG02723.hp1 others(3): Show |
a0003a0013 | a0003c0004a0003c0014a0013c0020 | a0003c0004t0001a0003c0014t0001a0013c0020t0001 | a0003c0004t0001g0052 a0003c0004t0001g0210 a0003c0004t0001g0211 others(3): Show |
6 | 180 | 0.0333 | 29 | c.133 others(46): Show |
DDX60 | ENSG00000137628.18 | transcript | ENST00000393743.8 | protein_coding | 10/37 | chr4 | TogoVar | |||||||
DECR2_chr16_396885_417482 | 397707 | T | TGTGGGGG others(22): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG02735.hp2 NA18942.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0040 |
7 | 170 | 0.0412 | 29 | c.-42 others(40): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 4177 | chr16 | TogoVar | |||||||
DEFA1_chr8_6972649_6985092 | 6974207 | T | TTTTCTTT others(22): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 HG02647.hp1 HG02647.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005 | 6 | 35 | 0.1714 | 29 | c.*35 others(40): Show |
DEFA1 | ENSG00000206047.4 | transcript | ENST00000382692.3 | protein_coding | 3441 | chr8 | TogoVar | |||||||
DEFB116_chr20_31298212_31313585 | 31298455 | T | TAAAAAAA others(22): Show |
downstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 35 | 0.0286 | 29 | c.*47 others(40): Show |
DEFB116 | ENSG00000215545.1 | transcript | ENST00000400549.1 | protein_coding | 4756 | chr20 | TogoVar | |||||||
DEFB124_chr20_31460471_31480127 | 31460620 | C | CAAAAAAA others(22): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 a0001c0001t0002g0031 |
2 | 178 | 0.0112 | 29 | c.*48 others(40): Show |
DEFB124 | ENSG00000180383.4 | transcript | ENST00000317676.3 | protein_coding | 4850 | chr20 | TogoVar | |||||||
DEFB124_chr20_31460471_31480127 | 31460635 | A | AAAAAAAA others(22): Show |
downstream_gene_variant | MODIFIER | HG02723.hp1 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 a0001c0001t0002g0035 |
2 | 352 | 0.0057 | 29 | c.*48 others(40): Show |
DEFB124 | ENSG00000180383.4 | transcript | ENST00000317676.3 | protein_coding | 4835 | chr20 | TogoVar | |||||||
DENND10_chr10_119099113_119142984 | 119115382 | A | ATTTTTTT others(22): Show |
intron_variant | MODIFIER | NA18944.hp1 NA18945.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279 a0001c0001t0001g0288 |
2 | 25 | 0.0800 | 29 | c.333 others(46): Show |
DENND10 | ENSG00000119979.18 | transcript | ENST00000361432.3 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DENND1B_chr1_197499748_197780480 | 197713815 | A | ATATAATA others(22): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0274 | 1 | 272 | 0.0037 | 29 | c.126 others(46): Show |
DENND1B | ENSG00000213047.13 | transcript | ENST00000620048.6 | protein_coding | 3/22 | chr1 | TogoVar | |||||||
DENND2B_chr11_8688352_8815674 | 8806605 | A | ACACACAC others(22): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0140 | 1 | 25 | 0.0400 | 29 | c.-26 others(46): Show |
DENND2B | ENSG00000166444.19 | transcript | ENST00000313726.11 | protein_coding | 1/19 | chr11 | TogoVar | |||||||
DENND6B_chr22_50304030_50332012 | 50307773 | G | GGAGGGGG others(22): Show |
downstream_gene_variant | MODIFIER | NA19074.hp2 | a0003 | a0003c0005 | a0003c0005t0005 | a0003c0005t0005g0211 | 1 | 120 | 0.0083 | 29 | c.*43 others(40): Show |
DENND6B | ENSG00000205593.12 | transcript | ENST00000413817.8 | protein_coding | 1256 | chr22 | TogoVar | |||||||
DENND6B_chr22_50304030_50332012 | 50307779 | G | GGAGGGGA others(22): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 HG02970.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0076 a0001c0001t0011g0087 a0001c0001t0011g0111 |
3 | 323 | 0.0093 | 29 | c.*43 others(40): Show |
DENND6B | ENSG00000205593.12 | transcript | ENST00000413817.8 | protein_coding | 1250 | chr22 | TogoVar | |||||||
DENR_chr12_122747824_122776064 | 122750627 | C | CAAAAAAA others(22): Show |
upstream_gene_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 79 | 0.0127 | 29 | c.-23 others(40): Show |
DENR | ENSG00000139726.11 | transcript | ENST00000280557.11 | protein_coding | 2196 | chr12 | TogoVar | |||||||
DEPDC1B_chr5_60591912_60705166 | 60699443 | G | GAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 77 | 0.0130 | 29 | c.48+ others(42): Show |
DEPDC1B | ENSG00000035499.13 | transcript | ENST00000265036.10 | protein_coding | 1/10 | chr5 | TogoVar | |||||||
DEPTOR_chr8_119868722_120055918 | 120002791 | A | AAATATAT others(22): Show |
intron_variant | MODIFIER | HG01884.hp2 NA18612.hp1 |
a0002a0003 | a0002c0005a0003c0004 | a0002c0005t0003a0003c0004t0002 | a0002c0005t0003g0191 a0003c0004t0002g0122 |
2 | 43 | 0.0465 | 29 | c.791 others(44): Show |
DEPTOR | ENSG00000155792.10 | transcript | ENST00000286234.6 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DEPTOR_chr8_119868722_120055918 | 120002791 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0167 | 1 | 42 | 0.0238 | 29 | c.791 others(44): Show |
DEPTOR | ENSG00000155792.10 | transcript | ENST00000286234.6 | protein_coding | 5/8 | chr8 | TogoVar | |||||||
DEPTOR_chr8_119868722_120055918 | 120030497 | G | GTTTGTTT others(22): Show |
intron_variant | MODIFIER | HG01952.hp2 HG02135.hp1 HG03688.hp2 others(1): Show |
a0001a0003 | a0001c0002a0001c0003a0003c0004 | a0001c0002t0001a0001c0003t0001a0003c0004t0015 | a0001c0002t0001g0052 a0001c0002t0001g0069 a0001c0003t0001g0126 others(1): Show |
4 | 32 | 0.1250 | 29 | c.110 others(50): Show |
DEPTOR | ENSG00000155792.10 | transcript | ENST00000286234.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DESI1_chr22_41593028_41626043 | 41594338 | T | TGGGGGGG others(22): Show |
downstream_gene_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0083 | 1 | 238 | 0.0042 | 29 | c.*67 others(40): Show |
DESI1 | ENSG00000100418.8 | transcript | ENST00000263256.7 | protein_coding | 3689 | chr22 | TogoVar | |||||||
DGAT1_chr8_144309584_144331852 | 144313683 | C | CTCCCCGC others(22): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0036 | 1 | 214 | 0.0047 | 29 | c.*28 others(40): Show |
DGAT1 | ENSG00000185000.12 | transcript | ENST00000528718.6 | protein_coding | 900 | chr8 | TogoVar | |||||||
DGAT1_chr8_144309584_144331852 | 144313736 | G | GCGCCGCG others(22): Show |
downstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0018 | 1 | 237 | 0.0042 | 29 | c.*28 others(40): Show |
DGAT1 | ENSG00000185000.12 | transcript | ENST00000528718.6 | protein_coding | 847 | chr8 | TogoVar | |||||||
DGCR6L_chr22_20309238_20325060 | 20322832 | T | TGCGCGCG others(22): Show |
upstream_gene_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 35 | 0.0286 | 29 | c.-28 others(40): Show |
DGCR6L | ENSG00000128185.10 | transcript | ENST00000248879.8 | protein_coding | 2773 | chr22 | TogoVar | |||||||
DGCR6L_chr22_20309238_20325060 | 20322832 | T | TGTGCGCG others(22): Show |
upstream_gene_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 35 | 0.0286 | 29 | c.-28 others(40): Show |
DGCR6L | ENSG00000128185.10 | transcript | ENST00000248879.8 | protein_coding | 2773 | chr22 | TogoVar | |||||||
DGCR6L_chr22_20309238_20325060 | 20322832 | T | TGTGTGTG others(22): Show |
upstream_gene_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 35 | 0.0286 | 29 | c.-28 others(40): Show |
DGCR6L | ENSG00000128185.10 | transcript | ENST00000248879.8 | protein_coding | 2773 | chr22 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14392989 | G | GTTTTTTT others(22): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0052 | 1 | 142 | 0.0070 | 29 | c.183 others(50): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14471323 | G | GTATATAT others(22): Show |
intron_variant | MODIFIER | HG02080.hp1 HG04115.hp2 NA19002.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0045 a0001c0001t0001g0106 a0001c0002t0002g0138 |
3 | 146 | 0.0205 | 29 | c.183 others(48): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14471354 | G | GTATATAT others(22): Show |
intron_variant | MODIFIER | HG01978.hp1 HG02735.hp1 NA18988.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0028a0001c0002t0002 | a0001c0001t0007g0133 a0001c0001t0028g0095 a0001c0002t0002g0074 |
3 | 133 | 0.0226 | 29 | c.183 others(48): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | |||||||
DGKH_chr13_42043648_42247896 | 42141028 | C | CCATTAAC others(22): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(264): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(133): Show | a0001c0001t0001g0131 a0001c0001t0001g0234 a0001c0001t0001g0249 others(263): Show |
267 | 314 | 0.8503 | 29 | c.384 others(48): Show |
DGKH | ENSG00000102780.17 | transcript | ENST00000337343.9 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
DGKH_chr13_42043648_42247896 | 42159244 | C | CTTTTTTT others(22): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG04184.hp2 NA18947.hp2 NA18959.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0020 | a0001c0001t0003a0001c0001t0091a0001c0001t0092others(1): Show | a0001c0001t0003g0084 a0001c0001t0003g0170 a0001c0001t0091g0250 others(2): Show |
5 | 19 | 0.2632 | 29 | c.623 others(40): Show |
DGKH | ENSG00000102780.17 | transcript | ENST00000337343.9 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
DGKK_chrX_50360409_50475825 | 50447418 | A | ATAATATA others(22): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0003 | a0003c0010 | a0003c0010t0006 | a0003c0010t0006g0217 | 1 | 239 | 0.0042 | 29 | c.645 others(48): Show |
DGKK | ENSG00000274588.2 | transcript | ENST00000611977.2 | protein_coding | 1/27 | chrX | TogoVar | |||||||
DGUOK_chr2_73921880_73963946 | 73923641 | C | CAGAAAAG others(22): Show |
upstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041 | 1 | 79 | 0.0127 | 29 | c.-32 others(40): Show |
DGUOK | ENSG00000114956.20 | transcript | ENST00000264093.9 | protein_coding | 3238 | chr2 | TogoVar | |||||||
DHRS9_chr2_169064563_169101167 | 169078815 | C | CTTTTTTT others(22): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 a0001c0001t0001g0107 |
2 | 153 | 0.0131 | 29 | c.-59 others(46): Show |
DHRS9 | ENSG00000073737.17 | transcript | ENST00000674881.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2246706 | G | GAGAAAGA others(22): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0009 | a0009c0011 | a0009c0011t0009 | a0009c0011t0009g0008 | 1 | 19 | 0.0526 | 29 | c.597 others(46): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 5/6 | chrX | TogoVar | |||||||
DHX16_chr6_30648127_30678006 | 30653616 | T | TCTTGGCC others(22): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(371): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0005a0001c0010others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(171): Show |
374 | 381 | 0.9816 | 29 | c.299 others(46): Show |
DHX16 | ENSG00000204560.10 | transcript | ENST00000376442.8 | protein_coding | 19/19 | chr6 | TogoVar | |||||||
DHX16_chr6_30648127_30678006 | 30653616 | T | TCTTGGCC others(22): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 8 | 0.1250 | 29 | c.299 others(46): Show |
DHX16 | ENSG00000204560.10 | transcript | ENST00000376442.8 | protein_coding | 19/19 | chr6 | TogoVar | |||||||
DIAPH2_chrX_96679842_97609997 | 96942924 | A | ACAGCACA others(22): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01109.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(3): Show | a0001c0001t0001g0144 a0001c0001t0002g0010 a0001c0001t0002g0011 others(4): Show |
7 | 147 | 0.0476 | 29 | c.144 others(46): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 13/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DIAPH2_chrX_96679842_97609997 | 97129107 | T | TTTTCTTT others(22): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0088 | 1 | 145 | 0.0069 | 29 | c.259 others(50): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DIDO1_chr20_62872743_62931505 | 62875311 | C | CCCTCACC others(22): Show |
downstream_gene_variant | MODIFIER | HG00609.hp2 NA18941.hp1 NA18973.hp2 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0001 a0002c0002t0001g0006 a0003c0003t0001g0027 |
3 | 316 | 0.0095 | 29 | c.*39 others(40): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 2431 | chr20 | TogoVar | |||||||
DIDO1_chr20_62872743_62931505 | 62929692 | A | AAAAAAAA others(22): Show |
upstream_gene_variant | MODIFIER | HG02896.hp1 | a0010 | a0010c0016 | a0010c0016t0003 | a0010c0016t0003g0161 | 1 | 296 | 0.0034 | 29 | c.-34 others(40): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 3188 | chr20 | TogoVar | |||||||
DIMT1_chr5_62382254_62408905 | 62396139 | G | GTTTTTTT others(22): Show |
intron_variant | MODIFIER | HG06807.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0128 a0001c0001t0002g0129 |
2 | 125 | 0.0160 | 29 | c.447 others(46): Show |
DIMT1 | ENSG00000086189.11 | transcript | ENST00000199320.9 | protein_coding | 6/11 | chr5 | TogoVar | |||||||
DIP2B_chr12_50499985_50753657 | 50501219 | C | CAAAAAAA others(22): Show |
upstream_gene_variant | MODIFIER | HG01123.hp2 HG01891.hp2 HG02559.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0012a0001c0001t0021 | a0001c0001t0010g0090 a0001c0001t0010g0101 a0001c0001t0012g0102 others(1): Show |
4 | 58 | 0.0690 | 29 | c.-39 others(40): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 3765 | chr12 | TogoVar | |||||||
DIP2B_chr12_50499985_50753657 | 50598794 | T | TCCCCTCT others(22): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0008 | 1 | 229 | 0.0044 | 29 | c.101 others(48): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DIP2B_chr12_50499985_50753657 | 50598811 | T | TCTCCCCC others(22): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00609.hp2 others(40): Show |
a0001a0005a0006 | a0001c0001a0001c0020a0005c0016others(1): Show | a0001c0001t0001a0001c0001t0014a0001c0001t0031others(3): Show | a0001c0001t0001g0027 a0001c0001t0001g0115 a0001c0001t0001g0117 others(40): Show |
43 | 201 | 0.2139 | 29 | c.101 others(48): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DIS3L2_chr2_231956713_232342192 | 232246820 | G | GCATTCAT others(22): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272 | 1 | 302 | 0.0033 | 29 | c.131 others(48): Show |
DIS3L2 | ENSG00000144535.20 | transcript | ENST00000325385.12 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DIS3L_chr15_66288568_66338898 | 66309094 | A | AAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG03490.hp2 NA18960.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0006a0001c0003t0016 | a0001c0001t0006g0346 a0001c0003t0016g0131 |
2 | 12 | 0.1667 | 29 | c.558 others(44): Show |
DIS3L | ENSG00000166938.13 | transcript | ENST00000319212.9 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
DISP1_chr1_222810039_223010995 | 222936708 | T | TATTATAT others(22): Show |
intron_variant | MODIFIER | HG00280.hp2 NA19060.hp2 |
a0001a0005 | a0001c0001a0005c0013 | a0001c0001t0001a0005c0013t0001 | a0001c0001t0001g0326 a0005c0013t0001g0325 |
2 | 329 | 0.0061 | 29 | c.-17 others(46): Show |
DISP1 | ENSG00000154309.9 | transcript | ENST00000675850.1 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DISP1_chr1_222810039_223010995 | 222969370 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG01975.hp2 HG02602.hp1 NA18959.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0089 a0002c0003t0001g0222 a0002c0003t0001g0229 |
3 | 14 | 0.2143 | 29 | c.510 others(48): Show |
DISP1 | ENSG00000154309.9 | transcript | ENST00000675850.1 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DISP2_chr15_40353219_40383621 | 40374014 | A | AAAAAAAA others(22): Show |
3_prime_UTR_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0003 | a0001c0003t0148 | a0001c0003t0148g0003 | 1 | 146 | 0.0068 | 29 | c.*36 others(40): Show |
DISP2 | ENSG00000140323.6 | transcript | ENST00000267889.5 | protein_coding | 8/8 | 3698 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
DISP2_chr15_40353219_40383621 | 40374014 | A | AAAAAAAA others(22): Show |
3_prime_UTR_variant | MODIFIER | HG02818.hp1 NA20300.hp1 |
a0001a0028 | a0001c0003a0028c0044 | a0001c0003t0050a0028c0044t0050 | a0001c0003t0050g0003 a0028c0044t0050g0003 |
2 | 147 | 0.0136 | 29 | c.*36 others(40): Show |
DISP2 | ENSG00000140323.6 | transcript | ENST00000267889.5 | protein_coding | 8/8 | 3698 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
DISP2_chr15_40353219_40383621 | 40374014 | A | AAAAAAAA others(22): Show |
3_prime_UTR_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0003 | a0001c0003t0152 | a0001c0003t0152g0012 | 1 | 146 | 0.0068 | 29 | c.*36 others(40): Show |
DISP2 | ENSG00000140323.6 | transcript | ENST00000267889.5 | protein_coding | 8/8 | 3698 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
DISP2_chr15_40353219_40383621 | 40374014 | A | AAAAAAAA others(22): Show |
3_prime_UTR_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0003 | a0001c0003t0155 | a0001c0003t0155g0003 | 1 | 146 | 0.0068 | 29 | c.*36 others(40): Show |
DISP2 | ENSG00000140323.6 | transcript | ENST00000267889.5 | protein_coding | 8/8 | 3698 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
DLAT_chr11_112020408_112069404 | 112067685 | A | AAAAAAAA others(22): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0266 | 1 | 81 | 0.0123 | 29 | c.*51 others(40): Show |
DLAT | ENSG00000150768.18 | transcript | ENST00000280346.11 | protein_coding | 3282 | chr11 | TogoVar |