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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DDX24_chr14_94043287_94086202 | 94051187 | C | CCAGGG | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00621.hp1 HG00733.hp2 others(73): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0004a0001c0014others(8): Show | a0001c0001t0005a0001c0001t0007a0001c0001t0010others(21): Show | a0001c0001t0005g0048a0001c0001t0007g0023a0001c0001t0007g0054others(49): Show | 76 | 371 | 0.2049 | 5 | c.*3_ others(10): Show |
DDX24 | ENSG00000089737.19 | transcript | ENST00000621632.5 | protein_coding | 9/9 | 3 | chr14 | TogoVar | |||||
DDX25_chr11_125899508_125933843 | 125902599 | T | TAAAAA | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(127): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(54): Show | a0001c0001t0001g0141a0001c0001t0001g0157a0001c0001t0001g0158others(104): Show | 130 | 448 | 0.2902 | 5 | c.-19 others(16): Show |
DDX25 | ENSG00000109832.14 | transcript | ENST00000263576.11 | protein_coding | 1908 | chr11 | TogoVar | ||||||
DDX27_chr20_49214416_49249073 | 49216007 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG04228.hp2 NA18961.hp1 NA18978.hp1 others(8): Show |
a0001 | a0001c0004a0001c0005 | a0001c0004t0001a0001c0005t0001 | a0001c0004t0001g0101a0001c0005t0001g0010a0001c0005t0001g0018others(6): Show | 11 | 386 | 0.0285 | 5 | c.-34 others(16): Show |
DDX27 | ENSG00000124228.15 | transcript | ENST00000618172.5 | protein_coding | 3408 | chr20 | TogoVar | ||||||
DDX27_chr20_49214416_49249073 | 49226857 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(78): Show |
a0001a0002a0003others(2): Show | a0001c0004a0001c0005a0001c0006others(4): Show | a0001c0004t0001a0001c0005t0001a0001c0006t0002others(4): Show | a0001c0004t0001g0101a0001c0004t0001g0102a0001c0004t0001g0123others(52): Show | 81 | 386 | 0.2098 | 5 | c.706 others(20): Show |
DDX27 | ENSG00000124228.15 | transcript | ENST00000618172.5 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DDX31_chr9_132587997_132674983 | 132653494 | C | CAAAAA | intron_variant | MODIFIER | HG01258.hp2 HG02300.hp1 HG02572.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0342a0001c0001t0002g0326a0001c0001t0002g0377others(5): Show | 8 | 402 | 0.0199 | 5 | c.589 others(22): Show |
DDX31 | ENSG00000125485.18 | transcript | ENST00000372159.8 | protein_coding | 6/19 | chr9 | TogoVar | ||||||
DDX39A_chr19_14403798_14424341 | 14418120 | C | CAAAAA | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02109.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0001a0001c0004t0001 | a0001c0001t0001g0044a0001c0001t0001g0135a0001c0001t0001g0138others(2): Show | 7 | 392 | 0.0179 | 5 | c.-5+ others(20): Show |
DDX39A | ENSG00000123136.15 | transcript | ENST00000242776.9 | protein_coding | 1/10 | chr19 | TogoVar | ||||||
DDX42_chr17_63769170_63824317 | 63772303 | G | GAGTGC | upstream_gene_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG02723.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189a0001c0001t0001g0190a0001c0001t0001g0191others(2): Show | 5 | 332 | 0.0151 | 5 | c.-20 others(16): Show |
DDX42 | ENSG00000198231.14 | transcript | ENST00000389924.7 | protein_coding | 1866 | chr17 | TogoVar | ||||||
DDX42_chr17_63769170_63824317 | 63797352 | C | CAAAAA | intron_variant | MODIFIER | HG01255.hp1 HG02109.hp1 NA18954.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017 | a0001c0001t0001g0027a0001c0001t0001g0102a0001c0001t0001g0130others(2): Show | 6 | 332 | 0.0181 | 5 | c.373 others(20): Show |
DDX42 | ENSG00000198231.14 | transcript | ENST00000389924.7 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DDX46_chr5_134753779_134836121 | 134797167 | C | CAAAAA | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG01167.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(3): Show | a0001c0001t0001g0176a0001c0001t0001g0177a0001c0001t0001g0189others(12): Show | 15 | 342 | 0.0439 | 5 | c.195 others(24): Show |
DDX46 | ENSG00000145833.16 | transcript | ENST00000452510.7 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DDX46_chr5_134753779_134836121 | 134797188 | A | AAAAAC | intron_variant | MODIFIER | HG02004.hp1 HG02109.hp2 HG02145.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0016 | a0001c0001t0004g0012a0001c0001t0004g0013a0001c0001t0004g0014others(7): Show | 10 | 342 | 0.0292 | 5 | c.195 others(24): Show |
DDX46 | ENSG00000145833.16 | transcript | ENST00000452510.7 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DDX4_chr5_55733061_55822157 | 55765413 | A | ATATAT | intron_variant | MODIFIER | HG02572.hp1 HG02886.hp1 HG03098.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233a0001c0001t0001g0237a0001c0001t0001g0238others(1): Show | 4 | 346 | 0.0116 | 5 | c.334 others(22): Show |
DDX4 | ENSG00000152670.19 | transcript | ENST00000505374.6 | protein_coding | 6/21 | chr5 | TogoVar | ||||||
DDX52_chr17_37604739_37648446 | 37607955 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG00438.hp1 HG01070.hp2 HG01074.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0013others(6): Show | a0001c0001t0002g0003a0001c0001t0002g0029a0001c0001t0002g0033others(21): Show | 30 | 411 | 0.0730 | 5 | c.*63 others(16): Show |
DDX52 | ENSG00000278053.5 | transcript | ENST00000617633.5 | protein_coding | 1783 | chr17 | TogoVar | ||||||
DDX56_chr7_44560804_44578908 | 44562854 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00558.hp2 others(80): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0006others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0035a0001c0001t0001g0046others(13): Show | 83 | 406 | 0.2044 | 5 | c.*31 others(16): Show |
DDX56 | ENSG00000136271.11 | transcript | ENST00000258772.10 | protein_coding | 2949 | chr7 | TogoVar | ||||||
DDX59_chr1_200639037_200674907 | 200669895 | T | TGCGGA | 5_prime_UTR_variant | MODIFIER | HG02145.hp1 HG03704.hp1 NA18972.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0011a0001c0003t0011 | a0001c0001t0011g0219a0001c0001t0011g0220a0001c0003t0011g0218 | 3 | 390 | 0.0077 | 5 | c.-14 others(14): Show |
DDX59 | ENSG00000118197.14 | transcript | ENST00000331314.11 | protein_coding | 1/8 | 3156 | chr1 | TogoVar | |||||
DDX59_chr1_200639037_200674907 | 200669895 | T | TGCGGG | 5_prime_UTR_variant | MODIFIER | HG02004.hp1 HG02109.hp1 HG02818.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0009a0003c0006t0009 | a0001c0001t0009g0216a0001c0001t0009g0217a0003c0006t0009g0044 | 4 | 390 | 0.0103 | 5 | c.-14 others(14): Show |
DDX59 | ENSG00000118197.14 | transcript | ENST00000331314.11 | protein_coding | 1/8 | 3156 | chr1 | TogoVar | |||||
DDX5_chr17_64493254_64511289 | 64494411 | G | GCTCCC | downstream_gene_variant | MODIFIER | HG00558.hp1 HG01070.hp2 HG01071.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014a0001c0001t0016others(1): Show | a0001c0001t0003g0002a0001c0001t0014g0027a0001c0001t0016g0029others(1): Show | 26 | 370 | 0.0703 | 5 | c.*55 others(16): Show |
DDX5 | ENSG00000108654.16 | transcript | ENST00000225792.10 | protein_coding | 3842 | chr17 | TogoVar | ||||||
DDX60L_chr4_168351735_168485492 | 168383672 | T | TGCTGG | intron_variant | MODIFIER | HG02145.hp1 HG02630.hp1 NA19240.hp1 |
a0013 | a0013c0034a0013c0061 | a0013c0034t0001a0013c0034t0002a0013c0061t0002 | a0013c0034t0001g0090a0013c0034t0002g0099a0013c0061t0002g0092 | 3 | 268 | 0.0112 | 5 | c.411 others(22): Show |
DDX60L | ENSG00000181381.15 | transcript | ENST00000682922.1 | protein_coding | 30/37 | chr4 | TogoVar | ||||||
DDX60L_chr4_168351735_168485492 | 168412564 | C | CAACAT | intron_variant | MODIFIER | HG00140.hp2 HG00597.hp2 HG00609.hp2 others(36): Show |
a0001a0002a0003others(8): Show | a0001c0039a0002c0004a0002c0009others(12): Show | a0001c0039t0001a0002c0004t0003a0002c0009t0003others(16): Show | a0001c0039t0001g0261a0002c0004t0003g0035a0002c0004t0003g0036others(36): Show | 39 | 268 | 0.1455 | 5 | c.297 others(24): Show |
DDX60L | ENSG00000181381.15 | transcript | ENST00000682922.1 | protein_coding | 22/37 | chr4 | TogoVar | ||||||
DDX60L_chr4_168351735_168485492 | 168464443 | A | ATTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00735.hp1 others(21): Show |
a0002a0004a0006others(7): Show | a0002c0089a0004c0005a0006c0006others(9): Show | a0002c0089t0002a0004c0005t0001a0006c0006t0002others(11): Show | a0002c0089t0002g0069a0004c0005t0001g0013a0006c0006t0002g0128others(21): Show | 24 | 268 | 0.0896 | 5 | c.265 others(22): Show |
DDX60L | ENSG00000181381.15 | transcript | ENST00000682922.1 | protein_coding | 4/37 | chr4 | TogoVar | ||||||
DDX60L_chr4_168351735_168485492 | 168467445 | C | CAAAAA | intron_variant | MODIFIER | HG01167.hp2 HG01168.hp1 HG01169.hp1 others(9): Show |
a0001a0004a0006others(6): Show | a0001c0002a0004c0005a0006c0006others(7): Show | a0001c0002t0001a0004c0005t0001a0006c0006t0003others(7): Show | a0001c0002t0001g0058a0004c0005t0001g0061a0006c0006t0003g0020others(9): Show | 12 | 268 | 0.0448 | 5 | c.264 others(22): Show |
DDX60L | ENSG00000181381.15 | transcript | ENST00000682922.1 | protein_coding | 4/37 | chr4 | TogoVar | ||||||
DDX60L_chr4_168351735_168485492 | 168484059 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00597.hp1 HG00597.hp2 others(75): Show |
a0001a0002a0003others(18): Show | a0001c0002a0001c0042a0002c0004others(28): Show | a0001c0002t0001a0001c0042t0001a0002c0004t0002others(33): Show | a0001c0002t0001g0043a0001c0002t0001g0198a0001c0042t0001g0146others(73): Show | 78 | 268 | 0.2910 | 5 | c.-37 others(16): Show |
DDX60L | ENSG00000181381.15 | transcript | ENST00000682922.1 | protein_coding | 3568 | chr4 | TogoVar | ||||||
DDX60_chr4_168211294_168323752 | 168265835 | A | AGGAAG | intron_variant | MODIFIER | HG00558.hp1 HG01346.hp2 HG02015.hp1 others(9): Show |
a0001a0014 | a0001c0001a0014c0029 | a0001c0001t0001a0014c0029t0001 | a0001c0001t0001g0008a0001c0001t0001g0015a0001c0001t0001g0072others(9): Show | 12 | 270 | 0.0444 | 5 | c.303 others(24): Show |
DDX60 | ENSG00000137628.18 | transcript | ENST00000393743.8 | protein_coding | 22/37 | chr4 | TogoVar | ||||||
DDX60_chr4_168211294_168323752 | 168286417 | C | CACACA | intron_variant | MODIFIER | HG00140.hp2 HG01081.hp1 HG01123.hp1 others(13): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0001c0006others(5): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(5): Show | a0001c0001t0001g0097a0001c0001t0001g0140a0001c0001t0001g0165others(13): Show | 16 | 270 | 0.0593 | 5 | c.133 others(22): Show |
DDX60 | ENSG00000137628.18 | transcript | ENST00000393743.8 | protein_coding | 10/37 | chr4 | TogoVar | ||||||
DDX60_chr4_168211294_168323752 | 168299157 | C | CAAAAA | intron_variant | MODIFIER | HG01255.hp1 HG01928.hp1 HG01978.hp2 others(7): Show |
a0001a0002a0010 | a0001c0001a0002c0002a0010c0019 | a0001c0001t0001a0002c0002t0001a0010c0019t0001 | a0001c0001t0001g0097a0002c0002t0001g0010a0002c0002t0001g0011others(7): Show | 10 | 270 | 0.0370 | 5 | c.723 others(22): Show |
DDX60 | ENSG00000137628.18 | transcript | ENST00000393743.8 | protein_coding | 6/37 | chr4 | TogoVar | ||||||
DDX60_chr4_168211294_168323752 | 168305059 | T | TTTAGA | intron_variant | MODIFIER | HG02572.hp1 HG03225.hp2 NA19043.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0216a0001c0003t0001g0217a0001c0003t0001g0218 | 3 | 270 | 0.0111 | 5 | c.606 others(22): Show |
DDX60 | ENSG00000137628.18 | transcript | ENST00000393743.8 | protein_coding | 5/37 | chr4 | TogoVar | ||||||
DDX6_chr11_118742763_118796164 | 118768987 | C | CAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00642.hp1 others(38): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0006 | a0001c0001t0002a0001c0001t0005a0001c0001t0014others(13): Show | a0001c0001t0002g0120a0001c0001t0002g0124a0001c0001t0002g0125others(38): Show | 41 | 370 | 0.1108 | 5 | c.370 others(20): Show |
DDX6 | ENSG00000110367.14 | transcript | ENST00000534980.7 | protein_coding | 4/13 | chr11 | TogoVar | ||||||
DDX6_chr11_118742763_118796164 | 118780114 | C | CAAAAA | intron_variant | MODIFIER | HG00673.hp2 HG01257.hp1 HG02602.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0011others(5): Show | a0001c0001t0003g0334a0001c0001t0005g0330a0001c0001t0011g0279others(7): Show | 10 | 370 | 0.0270 | 5 | c.265 others(20): Show |
DDX6 | ENSG00000110367.14 | transcript | ENST00000534980.7 | protein_coding | 3/13 | chr11 | TogoVar | ||||||
DEAF1_chr11_639233_700222 | 650373 | C | CAAAAA | intron_variant | MODIFIER | HG01123.hp1 HG01255.hp2 HG01257.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0212a0001c0002t0001g0213a0001c0002t0001g0214others(5): Show | 8 | 345 | 0.0232 | 5 | c.159 others(24): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 11/11 | chr11 | TogoVar | ||||||
DEAF1_chr11_639233_700222 | 690266 | C | CAGGAG | intron_variant | MODIFIER | HG02622.hp1 HG02970.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0200 | 3 | 345 | 0.0087 | 5 | c.387 others(22): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 2/11 | chr11 | TogoVar | ||||||
DEAF1_chr11_639233_700222 | 690326 | C | CAGGGG | intron_variant | MODIFIER | HG02132.hp1 NA18950.hp1 NA19011.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0041a0001c0001t0001g0043a0001c0002t0001g0042 | 3 | 345 | 0.0087 | 5 | c.387 others(22): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 2/11 | chr11 | TogoVar | ||||||
DEAF1_chr11_639233_700222 | 690331 | G | GAGGGC | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp1 HG00642.hp2 others(56): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0125others(56): Show | 59 | 345 | 0.1710 | 5 | c.387 others(22): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 2/11 | chr11 | TogoVar | ||||||
DEAF1_chr11_639233_700222 | 690346 | G | GAGGGC | intron_variant | MODIFIER | HG01243.hp1 HG02015.hp2 HG02056.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0203a0001c0002t0001g0254a0001c0002t0001g0255others(1): Show | 4 | 345 | 0.0116 | 5 | c.387 others(22): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 2/11 | chr11 | TogoVar | ||||||
DEAF1_chr11_639233_700222 | 696000 | C | CGGCCT | upstream_gene_variant | MODIFIER | HG00558.hp2 HG00621.hp2 HG02129.hp2 others(8): Show |
a0001a0005 | a0001c0001a0001c0003a0001c0009others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0009t0001others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0038a0001c0001t0001g0077others(8): Show | 11 | 345 | 0.0319 | 5 | c.-95 others(14): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 779 | chr11 | TogoVar | ||||||
DECR1_chr8_89996477_90058633 | 90013399 | G | GTTTTT | intron_variant | MODIFIER | HG00438.hp1 HG01952.hp1 HG01981.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005a0001c0001t0003g0173a0001c0001t0003g0174others(5): Show | 16 | 378 | 0.0423 | 5 | c.70- others(20): Show |
DECR1 | ENSG00000104325.7 | transcript | ENST00000220764.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DECR1_chr8_89996477_90058633 | 90056954 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG02109.hp2 HG02257.hp1 HG02258.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0040a0001c0001t0001g0227a0001c0001t0004g0042others(3): Show | 6 | 378 | 0.0159 | 5 | c.*50 others(16): Show |
DECR1 | ENSG00000104325.7 | transcript | ENST00000220764.7 | protein_coding | 3322 | chr8 | TogoVar | ||||||
DEDD_chr1_161115974_161137667 | 161132488 | C | CGCCCG | intron_variant | MODIFIER | HG02015.hp1 NA18965.hp1 NA18988.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0008 | 4 | 338 | 0.0118 | 5 | c.-98 others(18): Show |
DEDD | ENSG00000158796.17 | transcript | ENST00000368006.8 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
DEDD_chr1_161115974_161137667 | 161133480 | A | ACGAAG | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(164): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0010a0001c0001t0001g0014a0001c0001t0001g0041others(45): Show | 167 | 338 | 0.4941 | 5 | c.-10 others(16): Show |
DEDD | ENSG00000158796.17 | transcript | ENST00000368006.8 | protein_coding | 814 | chr1 | TogoVar | ||||||
DEF6_chr6_35292818_35326771 | 35308672 | C | CAAAAT | intron_variant | MODIFIER | HG00738.hp1 HG00741.hp2 HG01261.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(2): Show | a0001c0001t0001a0001c0004t0001a0001c0005t0001others(2): Show | a0001c0001t0001g0028a0001c0001t0001g0049a0001c0001t0001g0066others(10): Show | 15 | 326 | 0.0460 | 5 | c.97- others(18): Show |
DEF6 | ENSG00000023892.12 | transcript | ENST00000316637.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DEFA3_chr8_7010869_7023297 | 7012491 | T | TTTTTC | downstream_gene_variant | MODIFIER | HG01167.hp2 HG01261.hp2 HG01361.hp1 others(4): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0009 | a0001c0001t0001a0002c0002t0002a0007c0009t0006 | a0001c0001t0001g0025a0001c0001t0001g0042a0002c0002t0002g0001others(2): Show | 7 | 430 | 0.0163 | 5 | c.*34 others(16): Show |
DEFA3 | ENSG00000239839.7 | transcript | ENST00000327857.7 | protein_coding | 3377 | chr8 | TogoVar | ||||||
DEFA3_chr8_7010869_7023297 | 7020984 | C | CACAGA | upstream_gene_variant | MODIFIER | HG02572.hp2 NA18959.hp2 NA18965.hp1 others(3): Show |
a0001a0007 | a0001c0001a0007c0009 | a0001c0001t0001a0007c0009t0006 | a0001c0001t0001g0012a0007c0009t0006g0037 | 6 | 430 | 0.0140 | 5 | c.-27 others(16): Show |
DEFA3 | ENSG00000239839.7 | transcript | ENST00000327857.7 | protein_coding | 2688 | chr8 | TogoVar | ||||||
DEFB104A_chr8_7831436_7846242 | 7838701 | C | CAAACA | intron_variant | MODIFIER | HG00408.hp1 HG00621.hp2 HG00642.hp1 others(41): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0001a0001c0001t0002a0003c0003t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0007others(11): Show | 44 | 148 | 0.2973 | 5 | c.58+ others(20): Show |
DEFB104A | ENSG00000176782.3 | transcript | ENST00000314265.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DEFB104A_chr8_7831436_7846242 | 7838704 | A | ACAAAC | intron_variant | MODIFIER | HG00621.hp1 HG01074.hp2 HG01175.hp1 others(28): Show |
a0002a0006 | a0002c0002a0006c0006 | a0002c0002t0001a0006c0006t0001 | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0016others(12): Show | 31 | 148 | 0.2095 | 5 | c.58+ others(20): Show |
DEFB104A | ENSG00000176782.3 | transcript | ENST00000314265.3 | protein_coding | 1/1 | chr8 | TogoVar | ||||||
DEFB104B_chr8_7465308_7480082 | 7478800 | A | ATTTTT | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00544.hp2 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(20): Show | 46 | 196 | 0.2347 | 5 | c.-37 others(16): Show |
DEFB104B | ENSG00000177023.2 | transcript | ENST00000316169.2 | protein_coding | 3719 | chr8 | TogoVar | ||||||
DEFB106B_chr8_7477504_7491400 | 7478800 | A | ATTTTT | downstream_gene_variant | MODIFIER | HG00544.hp1 HG00733.hp2 HG01074.hp1 others(42): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0003 | a0001c0001t0001a0001c0005t0001a0002c0003t0001 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0014others(19): Show | 45 | 180 | 0.2500 | 5 | c.*38 others(16): Show |
DEFB106B | ENSG00000187082.2 | transcript | ENST00000335479.2 | protein_coding | 3703 | chr8 | TogoVar | ||||||
DEFB107A_chr8_7806720_7820716 | 7815247 | C | CAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(55): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0007others(21): Show | 58 | 170 | 0.3412 | 5 | c.70+ others(18): Show |
DEFB107A | ENSG00000186572.2 | transcript | ENST00000335021.2 | protein_coding | 1/1 | chr8 | TogoVar | ||||||
DEFB108B_chr11_71828200_71842710 | 71828634 | T | TAAAAA | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00597.hp2 others(164): Show |
a0001a0002a0003others(1): Show | a0001c0006a0002c0003a0003c0002others(1): Show | a0001c0006t0001a0002c0003t0001a0003c0002t0001others(1): Show | a0001c0006t0001g0011a0001c0006t0001g0027a0001c0006t0001g0062others(31): Show | 167 | 440 | 0.3796 | 5 | c.-45 others(16): Show |
DEFB108B | ENSG00000184276.3 | transcript | ENST00000328698.2 | protein_coding | 4565 | chr11 | TogoVar | ||||||
DEFB112_chr6_50037099_50054929 | 50041664 | T | TCTGTC | downstream_gene_variant | MODIFIER | HG02486.hp1 HG02572.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028a0001c0001t0002g0049 | 3 | 332 | 0.0090 | 5 | c.*19 others(16): Show |
DEFB112 | ENSG00000180872.7 | transcript | ENST00000651554.2 | protein_coding | 434 | chr6 | TogoVar | ||||||
DEFB116_chr20_31298212_31313585 | 31313270 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG01106.hp2 HG01123.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0001a0001c0001t0000g0002 | 7 | 416 | 0.0168 | 5 | c.-46 others(16): Show |
DEFB116 | ENSG00000215545.1 | transcript | ENST00000400549.1 | protein_coding | 4686 | chr20 | TogoVar | ||||||
DEFB121_chr20_31399845_31411215 | 31408513 | C | CACCAG | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(56): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0002g0006 | 59 | 372 | 0.1586 | 5 | c.-23 others(16): Show |
DEFB121 | ENSG00000204548.4 | transcript | ENST00000376314.3 | protein_coding | 2299 | chr20 | TogoVar | ||||||
DEFB123_chr20_31435632_31455257 | 31436151 | T | TAAAAA | upstream_gene_variant | MODIFIER | HG02145.hp2 HG02486.hp1 HG02970.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0034a0001c0001t0001g0127others(3): Show | 6 | 372 | 0.0161 | 5 | c.-45 others(16): Show |
DEFB123 | ENSG00000180424.7 | transcript | ENST00000376309.4 | protein_coding | 4480 | chr20 | TogoVar |