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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DDX31_chr9_132587997_132674983 | 132653896 | ATAATT | A | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00544.hp2 others(46): Show |
a0001a0004a0006others(1): Show | a0001c0003a0004c0006a0006c0013others(1): Show | a0001c0003t0001a0001c0003t0011a0004c0006t0005others(2): Show | a0001c0003t0001g0001a0001c0003t0001g0004a0001c0003t0001g0011others(42): Show | 49 | 402 | 0.1219 | -5 | c.589 others(22): Show |
DDX31 | ENSG00000125485.18 | transcript | ENST00000372159.8 | protein_coding | 6/19 | chr9 | TogoVar | ||||||
DDX39A_chr19_14403798_14424341 | 14411622 | GCCTTA | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(330): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(115): Show | 333 | 392 | 0.8495 | -5 | c.337 others(18): Show |
DDX39A | ENSG00000123136.15 | transcript | ENST00000242776.9 | protein_coding | 3/10 | chr19 | TogoVar | ||||||
DDX39B_chr6_31525226_31547003 | 31528028 | CAAAAA | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(169): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0021a0001c0001t0001g0023a0001c0001t0001g0070others(39): Show | 172 | 445 | 0.3865 | -5 | c.*24 others(16): Show |
DDX39B | ENSG00000198563.14 | transcript | ENST00000396172.6 | protein_coding | 2197 | chr6 | TogoVar | ||||||
DDX3X_chrX_41329162_41355274 | 41338043 | TGGTTA | T | intron_variant | MODIFIER | HG01258.hp1 HG01261.hp1 HG01928.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0028 | 6 | 301 | 0.0199 | -5 | c.103 others(20): Show |
DDX3X | ENSG00000215301.11 | transcript | ENST00000644876.2 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DDX3X_chrX_41329162_41355274 | 41344420 | GTTTTT | G | intron_variant | MODIFIER | HG02074.hp1 NA18939.hp2 NA18941.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0033a0001c0001t0003g0082a0001c0001t0003g0087others(2): Show | 6 | 301 | 0.0199 | -5 | c.102 others(20): Show |
DDX3X | ENSG00000215301.11 | transcript | ENST00000644876.2 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DDX3X_chrX_41329162_41355274 | 41349900 | GTTTTT | G | 3_prime_UTR_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0001 | 1 | 301 | 0.0033 | -5 | c.*21 others(16): Show |
DDX3X | ENSG00000215301.11 | transcript | ENST00000644876.2 | protein_coding | 17/17 | 2192 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
DDX3X_chrX_41329162_41355274 | 41350127 | TTATTG | T | 3_prime_UTR_variant | MODIFIER | HG00642.hp1 HG01081.hp2 |
a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0035 | 2 | 301 | 0.0066 | -5 | c.*24 others(16): Show |
DDX3X | ENSG00000215301.11 | transcript | ENST00000644876.2 | protein_coding | 17/17 | 2413 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
DDX43_chr6_73389828_73422566 | 73403477 | AAAAAG | A | intron_variant | MODIFIER | HG01109.hp1 HG02615.hp2 NA18906.hp2 |
a0004 | a0004c0006 | a0004c0006t0004 | a0004c0006t0004g0043a0004c0006t0004g0207 | 3 | 394 | 0.0076 | -5 | c.569 others(22): Show |
DDX43 | ENSG00000080007.8 | transcript | ENST00000370336.5 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DDX46_chr5_134753779_134836121 | 134755609 | ATATAT | A | upstream_gene_variant | MODIFIER | HG00673.hp1 HG01074.hp1 HG01099.hp1 others(7): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0141a0001c0001t0001g0249a0001c0001t0001g0258others(7): Show | 10 | 342 | 0.0292 | -5 | c.-33 others(16): Show |
DDX46 | ENSG00000145833.16 | transcript | ENST00000452510.7 | protein_coding | 3169 | chr5 | TogoVar | ||||||
DDX46_chr5_134753779_134836121 | 134795215 | TTTTTG | T | intron_variant | MODIFIER | HG03225.hp2 NA18946.hp2 NA18985.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0018 | a0001c0001t0001g0006a0001c0001t0005g0001a0001c0001t0005g0002others(5): Show | 8 | 342 | 0.0234 | -5 | c.179 others(22): Show |
DDX46 | ENSG00000145833.16 | transcript | ENST00000452510.7 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DDX46_chr5_134753779_134836121 | 134820847 | ATCTTT | A | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG02280.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0137a0001c0001t0008g0138a0001c0001t0008g0139others(1): Show | 4 | 342 | 0.0117 | -5 | c.297 others(24): Show |
DDX46 | ENSG00000145833.16 | transcript | ENST00000452510.7 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DDX4_chr5_55733061_55822157 | 55792123 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00733.hp1 HG01099.hp2 others(14): Show |
a0001 | a0001c0004a0001c0007 | a0001c0004t0001a0001c0007t0001 | a0001c0004t0001g0014a0001c0004t0001g0208a0001c0004t0001g0209others(14): Show | 17 | 346 | 0.0491 | -5 | c.130 others(22): Show |
DDX4 | ENSG00000152670.19 | transcript | ENST00000505374.6 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DDX50_chr10_68896315_68951847 | 68923937 | CTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp2 others(134): Show |
a0000a0001a0003 | a0000c0010a0001c0001a0001c0002others(4): Show | a0000c0010t0001a0001c0001t0001a0001c0001t0003others(6): Show | a0000c0010t0001g0127a0001c0001t0001g0004a0001c0001t0001g0005others(130): Show | 137 | 334 | 0.4102 | -5 | c.123 others(24): Show |
DDX50 | ENSG00000107625.14 | transcript | ENST00000373585.8 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DDX50_chr10_68896315_68951847 | 68925094 | GGTTTT | G | intron_variant | MODIFIER | HG01069.hp1 HG01123.hp1 HG01496.hp2 others(23): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0236a0001c0002t0001g0255a0001c0002t0001g0276others(23): Show | 26 | 334 | 0.0778 | -5 | c.123 others(24): Show |
DDX50 | ENSG00000107625.14 | transcript | ENST00000373585.8 | protein_coding | 8/14 | chr10 | TogoVar | ||||||
DDX50_chr10_68896315_68951847 | 68936516 | ATATAT | A | intron_variant | MODIFIER | HG00741.hp1 HG01981.hp2 HG02027.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0121a0001c0001t0001g0135a0001c0001t0001g0136others(11): Show | 14 | 334 | 0.0419 | -5 | c.159 others(22): Show |
DDX50 | ENSG00000107625.14 | transcript | ENST00000373585.8 | protein_coding | 11/14 | chr10 | TogoVar | ||||||
DDX50_chr10_68896315_68951847 | 68945955 | TATTTA | T | intron_variant | MODIFIER | HG00280.hp2 HG00735.hp2 HG00741.hp1 others(39): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0177a0001c0002t0001g0196a0001c0002t0001g0197others(39): Show | 42 | 334 | 0.1258 | -5 | c.193 others(22): Show |
DDX50 | ENSG00000107625.14 | transcript | ENST00000373585.8 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DDX53_chrX_22994960_23008589 | 23003650 | TCTTTG | T | downstream_gene_variant | MODIFIER | HG03225.hp1 HG03540.hp1 NA18906.hp1 |
a0004 | a0004c0004 | a0004c0004t0009 | a0004c0004t0009g0000 | 3 | 358 | 0.0084 | -5 | c.*16 others(16): Show |
DDX53 | ENSG00000184735.7 | transcript | ENST00000327968.7 | protein_coding | 62 | chrX | TogoVar | ||||||
DDX59_chr1_200639037_200674907 | 200669895 | TGCGGA | T | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00741.hp1 HG01109.hp1 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0001t0007a0001c0003t0004 | a0001c0001t0004g0058a0001c0001t0007g0054a0001c0001t0007g0055others(6): Show | 11 | 390 | 0.0282 | -5 | c.-14 others(14): Show |
DDX59 | ENSG00000118197.14 | transcript | ENST00000331314.11 | protein_coding | 1/8 | 3156 | chr1 | TogoVar | |||||
DDX5_chr17_64493254_64511289 | 64499531 | AAAACC | A | 3_prime_UTR_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG02055.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0003 | 20 | 370 | 0.0541 | -5 | c.*38 others(14): Show |
DDX5 | ENSG00000108654.16 | transcript | ENST00000225792.10 | protein_coding | 13/13 | 387 | chr17 | TogoVar | |||||
DDX60L_chr4_168351735_168485492 | 168386593 | AAAGAT | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(176): Show |
a0001a0002a0003others(33): Show | a0001c0002a0001c0016a0001c0039others(64): Show | a0001c0002t0001a0001c0002t0007a0001c0016t0001others(72): Show | a0001c0002t0001g0011a0001c0002t0001g0025a0001c0002t0001g0026others(174): Show | 179 | 268 | 0.6679 | -5 | c.391 others(24): Show |
DDX60L | ENSG00000181381.15 | transcript | ENST00000682922.1 | protein_coding | 29/37 | chr4 | TogoVar | ||||||
DDX60L_chr4_168351735_168485492 | 168478297 | CCCAGG | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(99): Show |
a0001a0002a0003others(26): Show | a0001c0002a0001c0064a0002c0004others(43): Show | a0001c0002t0001a0001c0002t0007a0001c0064t0001others(50): Show | a0001c0002t0001g0011a0001c0002t0001g0025a0001c0002t0001g0026others(99): Show | 102 | 268 | 0.3806 | -5 | c.-11 others(24): Show |
DDX60L | ENSG00000181381.15 | transcript | ENST00000682922.1 | protein_coding | 1/37 | chr4 | TogoVar | ||||||
DDX60L_chr4_168351735_168485492 | 168479981 | CAAAAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(52): Show |
a0001a0002a0003others(10): Show | a0001c0002a0001c0064a0002c0004others(16): Show | a0001c0002t0001a0001c0002t0007a0001c0064t0001others(18): Show | a0001c0002t0001g0011a0001c0002t0001g0025a0001c0002t0001g0026others(52): Show | 55 | 268 | 0.2052 | -5 | c.-11 others(22): Show |
DDX60L | ENSG00000181381.15 | transcript | ENST00000682922.1 | protein_coding | 1/37 | chr4 | TogoVar | ||||||
DDX60_chr4_168211294_168323752 | 168232908 | CAGAGT | C | intron_variant | MODIFIER | HG02717.hp2 HG03471.hp1 NA18906.hp1 |
a0005a0011 | a0005c0011a0011c0021 | a0005c0011t0001a0011c0021t0001 | a0005c0011t0001g0125a0005c0011t0001g0126a0011c0021t0001g0127 | 3 | 270 | 0.0111 | -5 | c.453 others(24): Show |
DDX60 | ENSG00000137628.18 | transcript | ENST00000393743.8 | protein_coding | 33/37 | chr4 | TogoVar | ||||||
DDX60_chr4_168211294_168323752 | 168238420 | GAGGGA | G | intron_variant | MODIFIER | HG01978.hp1 HG02004.hp2 HG02132.hp2 others(9): Show |
a0001a0014 | a0001c0001a0001c0003a0001c0033others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0033t0001others(1): Show | a0001c0001t0001g0029a0001c0001t0001g0055a0001c0001t0001g0069others(9): Show | 12 | 270 | 0.0444 | -5 | c.416 others(22): Show |
DDX60 | ENSG00000137628.18 | transcript | ENST00000393743.8 | protein_coding | 30/37 | chr4 | TogoVar | ||||||
DDX60_chr4_168211294_168323752 | 168244247 | TTAAAA | T | intron_variant | MODIFIER | HG02922.hp2 HG03486.hp1 |
a0001 | a0001c0003a0001c0036 | a0001c0003t0001a0001c0036t0001 | a0001c0003t0001g0100a0001c0036t0001g0183 | 2 | 270 | 0.0074 | -5 | c.416 others(24): Show |
DDX60 | ENSG00000137628.18 | transcript | ENST00000393743.8 | protein_coding | 30/37 | chr4 | TogoVar | ||||||
DDX60_chr4_168211294_168323752 | 168252794 | ATTATT | A | intron_variant | MODIFIER | HG01123.hp1 HG01884.hp2 HG01891.hp2 others(31): Show |
a0001a0002a0005others(4): Show | a0001c0003a0001c0006a0001c0012others(9): Show | a0001c0003t0001a0001c0006t0001a0001c0012t0001others(10): Show | a0001c0003t0001g0012a0001c0003t0001g0017a0001c0003t0001g0100others(31): Show | 34 | 270 | 0.1259 | -5 | c.355 others(22): Show |
DDX60 | ENSG00000137628.18 | transcript | ENST00000393743.8 | protein_coding | 26/37 | chr4 | TogoVar | ||||||
DDX60_chr4_168211294_168323752 | 168265835 | AGGAAG | A | intron_variant | MODIFIER | HG00558.hp2 HG00639.hp2 HG00738.hp2 others(61): Show |
a0001a0003a0007others(3): Show | a0001c0001a0001c0003a0001c0013others(8): Show | a0001c0001t0001a0001c0003t0001a0001c0013t0001others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0025others(60): Show | 64 | 270 | 0.2370 | -5 | c.303 others(24): Show |
DDX60 | ENSG00000137628.18 | transcript | ENST00000393743.8 | protein_coding | 22/37 | chr4 | TogoVar | ||||||
DDX6_chr11_118742763_118796164 | 118752975 | GTATTT | G | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG00673.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0013a0001c0001t0029others(4): Show | a0001c0001t0006g0239a0001c0001t0006g0247a0001c0001t0006g0259others(22): Show | 26 | 370 | 0.0703 | -5 | c.*8- others(18): Show |
DDX6 | ENSG00000110367.14 | transcript | ENST00000534980.7 | protein_coding | 13/13 | chr11 | TogoVar | ||||||
DDX6_chr11_118742763_118796164 | 118767626 | CTTTTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG00735.hp1 others(40): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0006 | a0001c0001t0002a0001c0001t0014a0001c0001t0024others(9): Show | a0001c0001t0002g0120a0001c0001t0002g0123a0001c0001t0002g0124others(39): Show | 43 | 370 | 0.1162 | -5 | c.499 others(20): Show |
DDX6 | ENSG00000110367.14 | transcript | ENST00000534980.7 | protein_coding | 5/13 | chr11 | TogoVar | ||||||
DEAF1_chr11_639233_700222 | 669125 | CTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00438.hp2 others(51): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0004a0001c0001t0006a0001c0002t0001others(2): Show | a0001c0001t0004g0199a0001c0001t0006g0031a0001c0002t0001g0195others(51): Show | 54 | 345 | 0.1565 | -5 | c.150 others(24): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 10/11 | chr11 | TogoVar | ||||||
DEAF1_chr11_639233_700222 | 690168 | GTGAGT | G | intron_variant | MODIFIER | HG00323.hp1 HG00597.hp2 HG00639.hp2 others(53): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(1): Show | a0001c0001t0001g0007a0001c0001t0001g0272a0001c0001t0001g0282others(53): Show | 56 | 345 | 0.1623 | -5 | c.387 others(22): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 2/11 | chr11 | TogoVar | ||||||
DECR2_chr16_396885_417482 | 410446 | GTGCCT | G | intron_variant | MODIFIER | HG01243.hp1 HG02602.hp2 HG03927.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022a0001c0001t0001g0151 | 4 | 367 | 0.0109 | -5 | c.462 others(18): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DEDD_chr1_161115974_161137667 | 161125104 | CTAGTT | C | intron_variant | MODIFIER | HG01099.hp2 HG01243.hp2 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 | 3 | 338 | 0.0089 | -5 | c.-64 others(20): Show |
DEDD | ENSG00000158796.17 | transcript | ENST00000368006.8 | protein_coding | 2/5 | chr1 | TogoVar | ||||||
DEF6_chr6_35292818_35326771 | 35308672 | CAAAAT | C | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00597.hp2 others(92): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0004a0001c0006others(3): Show | a0001c0001t0001a0001c0004t0001a0001c0006t0001others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0007others(46): Show | 95 | 326 | 0.2914 | -5 | c.97- others(18): Show |
DEF6 | ENSG00000023892.12 | transcript | ENST00000316637.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DEFA1B_chr8_6991766_7004198 | 6993378 | CTTTTT | C | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01081.hp2 HG02922.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0002c0002t0002others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0060a0001c0001t0003g0020others(2): Show | 7 | 398 | 0.0176 | -5 | c.*35 others(16): Show |
DEFA1B | ENSG00000240247.8 | transcript | ENST00000382689.8 | protein_coding | 3387 | chr8 | TogoVar | ||||||
DEFA1_chr8_6972649_6985092 | 6982778 | CACAGA | C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp2 others(202): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0010a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0004a0001c0001t0001g0025a0001c0001t0001g0047others(39): Show | 205 | 408 | 0.5025 | -5 | c.-27 others(16): Show |
DEFA1 | ENSG00000206047.4 | transcript | ENST00000382692.3 | protein_coding | 2687 | chr8 | TogoVar | ||||||
DEFA3_chr8_7010869_7023297 | 7012485 | TTTTTC | T | downstream_gene_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02055.hp1 others(21): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0003a0003c0003t0005 | a0001c0001t0002g0014a0003c0003t0003g0006a0003c0003t0003g0018others(1): Show | 24 | 430 | 0.0558 | -5 | c.*35 others(16): Show |
DEFA3 | ENSG00000239839.7 | transcript | ENST00000327857.7 | protein_coding | 3383 | chr8 | TogoVar | ||||||
DEFA4_chr8_6930820_6943306 | 6933351 | CTCACA | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(421): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0012others(39): Show | 424 | 486 | 0.8724 | -5 | c.*26 others(16): Show |
DEFA4 | ENSG00000164821.5 | transcript | ENST00000297435.3 | protein_coding | 2468 | chr8 | TogoVar | ||||||
DEFA5_chr8_7050304_7061739 | 7056014 | CTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(124): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(1): Show | a0001c0001t0001g0013a0001c0001t0004g0023a0001c0002t0001g0001others(6): Show | 127 | 472 | 0.2691 | -5 | c.173 others(20): Show |
DEFA5 | ENSG00000164816.8 | transcript | ENST00000330590.4 | protein_coding | 1/1 | chr8 | TogoVar | ||||||
DEFB105A_chr8_7816004_7828880 | 7822608 | CAGTTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00423.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014a0001c0001t0016others(2): Show | a0001c0001t0002g0002a0001c0001t0002g0008a0001c0001t0014g0020others(3): Show | 30 | 146 | 0.2055 | -5 | c.113 others(20): Show |
DEFB105A | ENSG00000186562.8 | transcript | ENST00000334773.7 | protein_coding | 2/2 | chr8 | TogoVar | ||||||
DEFB105B_chr8_7482679_7494593 | 7488943 | CCTAAA | C | intron_variant | MODIFIER | HG01346.hp2 HG02735.hp2 NA18943.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 3 | 136 | 0.0221 | -5 | c.113 others(20): Show |
DEFB105B | ENSG00000186599.8 | transcript | ENST00000335510.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DEFB106A_chr8_7820139_7834053 | 7822608 | CAGTTT | C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00423.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0016a0001c0002t0001g0002a0001c0002t0001g0013others(8): Show | 25 | 160 | 0.1563 | -5 | c.-25 others(16): Show |
DEFB106A | ENSG00000186579.3 | transcript | ENST00000335186.3 | protein_coding | 2530 | chr8 | TogoVar | ||||||
DEFB106B_chr8_7477504_7491400 | 7488943 | CCTAAA | C | upstream_gene_variant | MODIFIER | HG01346.hp2 HG02735.hp2 NA18943.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001a0001c0002t0001g0009 | 4 | 180 | 0.0222 | -5 | c.-25 others(16): Show |
DEFB106B | ENSG00000187082.2 | transcript | ENST00000335479.2 | protein_coding | 2544 | chr8 | TogoVar | ||||||
DEFB108B_chr11_71828200_71842710 | 71839333 | GGCCCT | G | downstream_gene_variant | MODIFIER | HG02615.hp1 HG02717.hp2 HG03041.hp1 |
a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0019 | 3 | 440 | 0.0068 | -5 | c.*17 others(16): Show |
DEFB108B | ENSG00000184276.3 | transcript | ENST00000328698.2 | protein_coding | 1624 | chr11 | TogoVar | ||||||
DEFB116_chr20_31298212_31313585 | 31298455 | TAAAAA | T | downstream_gene_variant | MODIFIER | HG01167.hp2 HG01361.hp2 HG02145.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0000 | a0002c0002t0000g0006a0002c0002t0000g0017a0002c0002t0000g0024others(1): Show | 6 | 416 | 0.0144 | -5 | c.*47 others(16): Show |
DEFB116 | ENSG00000215545.1 | transcript | ENST00000400549.1 | protein_coding | 4756 | chr20 | TogoVar | ||||||
DEFB123_chr20_31435632_31455257 | 31438542 | TATATA | T | upstream_gene_variant | MODIFIER | HG00323.hp1 HG01123.hp2 HG01192.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010a0001c0001t0002g0150a0001c0001t0002g0151others(3): Show | 12 | 372 | 0.0323 | -5 | c.-21 others(16): Show |
DEFB123 | ENSG00000180424.7 | transcript | ENST00000376309.4 | protein_coding | 2089 | chr20 | TogoVar | ||||||
DEFB123_chr20_31435632_31455257 | 31450570 | ATTTTT | A | downstream_gene_variant | MODIFIER | HG01515.hp1 HG01975.hp1 HG02895.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0035others(2): Show | 6 | 372 | 0.0161 | -5 | c.*39 others(14): Show |
DEFB123 | ENSG00000180424.7 | transcript | ENST00000376309.4 | protein_coding | 314 | chr20 | TogoVar | ||||||
DEFB124_chr20_31460471_31480127 | 31462586 | TATTTA | T | downstream_gene_variant | MODIFIER | HG02897.hp1 HG02976.hp1 HG03209.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007a0001c0001t0002g0113a0001c0001t0002g0115others(1): Show | 5 | 362 | 0.0138 | -5 | c.*29 others(16): Show |
DEFB124 | ENSG00000180383.4 | transcript | ENST00000317676.3 | protein_coding | 2884 | chr20 | TogoVar | ||||||
DEFB126_chr20_137590_150751 | 139949 | AAAGTC | A | upstream_gene_variant | MODIFIER | HG01099.hp2 HG01891.hp2 HG02109.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 10 | 460 | 0.0217 | -5 | c.-26 others(16): Show |
DEFB126 | ENSG00000125788.6 | transcript | ENST00000382398.4 | protein_coding | 2640 | chr20 | TogoVar | ||||||
DEFB129_chr20_222258_234886 | 233198 | TGACGG | T | downstream_gene_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG00609.hp2 others(50): Show |
a0001a0002a0007 | a0001c0002a0002c0003a0007c0007 | a0001c0002t0001a0002c0003t0001a0002c0003t0002others(1): Show | a0001c0002t0001g0002a0002c0003t0001g0006a0002c0003t0001g0035others(6): Show | 53 | 450 | 0.1178 | -5 | c.*34 others(16): Show |
DEFB129 | ENSG00000125903.4 | transcript | ENST00000246105.4 | protein_coding | 3313 | chr20 | TogoVar |