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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DDX5_chr17_64493254_64511289 | 64500835 | A | ACATTGCT others(22): Show |
intron_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 370 | 0.0027 | 29 | c.121 others(44): Show |
DDX5 | ENSG00000108654.16 | transcript | ENST00000225792.10 | protein_coding | 11/12 | chr17 | TogoVar | ||||||
DDX60L_chr4_168351735_168485492 | 168454758 | C | CTTTTTTT others(22): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0002 | a0002c0063 | a0002c0063t0001 | a0002c0063t0001g0106 | 1 | 268 | 0.0037 | 29 | c.837 others(46): Show |
DDX60L | ENSG00000181381.15 | transcript | ENST00000682922.1 | protein_coding | 7/37 | chr4 | TogoVar | ||||||
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 | a0003c0004t0001g0051a0003c0004t0001g0213a0003c0004t0001g0214others(3): Show | 6 | 270 | 0.0222 | 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 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0036others(1): Show | 7 | 367 | 0.0191 | 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 | 408 | 0.0147 | 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 | a0001c0001t0000 | a0001c0001t0000g0002 | 1 | 416 | 0.0024 | 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 | a0001c0001t0002g0007a0001c0001t0002g0028 | 2 | 362 | 0.0055 | 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 | a0001c0001t0002g0030a0001c0001t0002g0033 | 2 | 362 | 0.0055 | 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 | a0001c0001t0001g0280a0001c0001t0001g0289 | 2 | 374 | 0.0054 | 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 | 280 | 0.0036 | 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 | a0003c0002t0001g0082 | 1 | 352 | 0.0028 | 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 | a0003c0005t0005g0212 | 1 | 326 | 0.0031 | 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 | a0001c0001t0011g0068a0001c0001t0011g0070a0001c0001t0011g0110 | 3 | 326 | 0.0092 | 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 | 364 | 0.0028 | 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 | a0001c0001t0001g0067 | 1 | 292 | 0.0034 | 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 | a0002c0005t0003g0191a0003c0004t0002g0122 | 2 | 198 | 0.0101 | 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 | 198 | 0.0051 | 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 | a0001c0002t0001g0052a0001c0002t0001g0071a0001c0003t0001g0126others(1): Show | 4 | 198 | 0.0202 | 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 | a0001c0001t0002g0084 | 1 | 308 | 0.0033 | 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 | a0001c0001t0026g0035 | 1 | 370 | 0.0027 | 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 | 370 | 0.0027 | 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 | 392 | 0.0026 | 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 | 392 | 0.0026 | 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 | 392 | 0.0026 | 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 | 148 | 0.0068 | 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 | a0001c0001t0001g0045a0001c0001t0001g0105a0001c0002t0002g0137 | 3 | 148 | 0.0203 | 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 | a0001c0001t0007g0132a0001c0001t0028g0095a0001c0002t0002g0074 | 3 | 148 | 0.0203 | 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(265): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(133): Show | a0001c0001t0001g0130a0001c0001t0001g0234a0001c0001t0001g0249others(264): Show | 268 | 316 | 0.8481 | 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 | a0001c0001t0003a0001c0001t0090a0001c0001t0091others(1): Show | a0001c0001t0003g0084a0001c0001t0003g0170a0001c0001t0090g0250others(2): Show | 5 | 316 | 0.0158 | 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 | a0003c0010t0006g0227 | 1 | 248 | 0.0040 | 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 | 352 | 0.0028 | 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 | a0001c0001t0001g0117a0001c0001t0001g0118 | 2 | 398 | 0.0050 | 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 | a0006 | a0006c0013 | a0006c0013t0015 | a0006c0013t0015g0011 | 1 | 50 | 0.0200 | 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(372): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0005a0001c0010others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(171): Show | 375 | 383 | 0.9791 | 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 | 383 | 0.0026 | 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 | a0001c0001t0001g0142a0001c0001t0002g0008a0001c0001t0002g0009others(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 | a0001c0001t0003g0085 | 1 | 147 | 0.0068 | 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 | a0002c0002t0001g0001a0002c0002t0001g0019a0003c0003t0001g0238 | 3 | 320 | 0.0094 | 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 | a0009 | a0009c0016 | a0009c0016t0003 | a0009c0016t0003g0113 | 1 | 320 | 0.0031 | 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 | a0001c0001t0002g0129a0001c0001t0002g0130 | 2 | 404 | 0.0050 | 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 | a0001c0001t0010g0090a0001c0001t0010g0101a0001c0001t0012g0102others(1): Show | 4 | 284 | 0.0141 | 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 | 284 | 0.0035 | 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 |
a0001a0006a0007 | a0001c0001a0001c0021a0006c0017others(1): Show | a0001c0001t0001a0001c0001t0014a0001c0001t0031others(3): Show | a0001c0001t0001g0027a0001c0001t0001g0115a0001c0001t0001g0117others(40): Show | 43 | 284 | 0.1514 | 29 | c.101 others(48): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DIP2C_chr10_269201_694668 | 337800 | C | CGTGTGTT others(22): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00609.hp1 others(85): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0008a0001c0001t0001g0013a0001c0001t0001g0022others(85): Show | 88 | 88 | 1.0000 | 29 | c.358 others(48): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 29/36 | chr10 | TogoVar | ||||||
DIS3L2_chr2_231956713_232342192 | 232246820 | G | GCATTCAT others(22): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254 | 1 | 304 | 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 | a0001c0001t0006g0352a0001c0003t0016g0132 | 2 | 400 | 0.0050 | 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 | a0001c0001t0001g0209a0005c0013t0001g0208 | 2 | 348 | 0.0058 | 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 | a0002c0003t0001g0045a0002c0003t0001g0302a0002c0003t0001g0304 | 3 | 348 | 0.0086 | 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 | a0001c0003t0166 | a0001c0003t0166g0003 | 1 | 396 | 0.0025 | 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 |
a0001a0012 | a0001c0003a0012c0044 | a0001c0003t0052a0012c0044t0052 | a0001c0003t0052g0003a0012c0044t0052g0003 | 2 | 396 | 0.0051 | 29 | c.*36 others(40): Show |
DISP2 | ENSG00000140323.6 | transcript | ENST00000267889.5 | protein_coding | 8/8 | 3698 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |