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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASAH2B_chr10_50734936_50764255 | 50759010 | AGTTTGT | A | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00438.hp1 others(142): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(17): Show | a0001c0001t0002g0002a0001c0001t0002g0011a0001c0001t0002g0013others(52): Show | 145 | 414 | 0.3502 | -6 | c.*42 others(17): Show |
ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 6/6 | 4285 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
ASAH2B_chr10_50734936_50764255 | 50759774 | AAAAGAT | A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(133): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0014others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0010others(46): Show | 136 | 414 | 0.3285 | -6 | c.*50 others(17): Show |
ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 520 | chr10 | TogoVar | ||||||
ASAH2_chr10_50179861_50256516 | 50187084 | CCTCTCT | C | 3_prime_UTR_variant | MODIFIER | HG01981.hp2 HG03453.hp1 NA18522.hp2 |
a0001a0002 | a0001c0005a0001c0015a0002c0006 | a0001c0005t0117a0001c0015t0094a0002c0006t0101 | a0001c0005t0117g0266a0001c0015t0094g0036a0002c0006t0101g0273 | 3 | 408 | 0.0074 | -6 | c.*22 others(15): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 21/21 | 225 | chr10 | TogoVar | |||||
ASAH2_chr10_50179861_50256516 | 50187118 | TCACACA | T | 3_prime_UTR_variant | MODIFIER | HG00597.hp2 HG00733.hp1 HG00733.hp2 others(16): Show |
a0001a0003a0004 | a0001c0002a0001c0005a0003c0003others(1): Show | a0001c0002t0005a0001c0002t0044a0001c0002t0050others(3): Show | a0001c0002t0005g0061a0001c0002t0005g0063a0001c0002t0005g0066others(15): Show | 19 | 408 | 0.0466 | -6 | c.*19 others(15): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 21/21 | 191 | chr10 | TogoVar | |||||
ASAH2_chr10_50179861_50256516 | 50198276 | CTCTTTA | C | intron_variant | MODIFIER | HG01192.hp1 HG02258.hp2 HG02451.hp1 others(9): Show |
a0001a0008 | a0001c0004a0001c0007a0001c0011others(1): Show | a0001c0004t0020a0001c0004t0046a0001c0004t0090others(5): Show | a0001c0004t0020g0290a0001c0004t0020g0291a0001c0004t0046g0296others(9): Show | 12 | 408 | 0.0294 | -6 | c.185 others(23): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 17/20 | chr10 | TogoVar | ||||||
ASAH2_chr10_50179861_50256516 | 50198991 | TACACAC | T | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00597.hp2 others(122): Show |
a0001a0004a0007others(2): Show | a0001c0002a0001c0004a0001c0005others(7): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(56): Show | a0001c0002t0001g0012a0001c0002t0001g0083a0001c0002t0001g0095others(110): Show | 125 | 408 | 0.3064 | -6 | c.185 others(21): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 17/20 | chr10 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130064893 | ATGTGTG | A | intron_variant | MODIFIER | HG02630.hp2 HG03490.hp1 HG03669.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0011a0002c0002t0001a0002c0002t0011 | a0001c0001t0011g0015a0002c0002t0001g0071a0002c0002t0001g0137others(2): Show | 5 | 308 | 0.0162 | -6 | c.270 others(25): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130070940 | GGAGAGA | G | intron_variant | MODIFIER | HG01496.hp2 HG02615.hp1 HG02723.hp1 others(2): Show |
a0001a0004 | a0001c0001a0004c0012 | a0001c0001t0008a0001c0001t0012a0004c0012t0027 | a0001c0001t0008g0011a0001c0001t0012g0295a0001c0001t0012g0296others(2): Show | 5 | 308 | 0.0162 | -6 | c.270 others(25): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130074440 | AACACAC | A | intron_variant | MODIFIER | HG02145.hp2 HG03139.hp1 HG03195.hp1 others(2): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0091a0001c0001t0001g0158a0001c0001t0001g0227others(2): Show | 5 | 308 | 0.0162 | -6 | c.270 others(25): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130097126 | CAAAAAA | C | intron_variant | MODIFIER | HG00738.hp2 HG01256.hp1 HG02004.hp1 others(3): Show |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0010 | a0002c0003t0001g0019a0002c0003t0001g0025a0002c0003t0001g0026others(3): Show | 6 | 308 | 0.0195 | -6 | c.240 others(25): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 24/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130108757 | GTTTTTT | G | intron_variant | MODIFIER | HG00099.hp2 HG00597.hp2 HG00642.hp1 others(31): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0011others(1): Show | a0001c0001t0001a0001c0001t0012a0002c0002t0001others(7): Show | a0001c0001t0001g0278a0001c0001t0001g0280a0001c0001t0012g0295others(31): Show | 34 | 308 | 0.1104 | -6 | c.240 others(25): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 24/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130109460 | GTCTGTT | G | intron_variant | MODIFIER | HG01891.hp1 HG02258.hp2 HG02622.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020a0001c0001t0001g0038a0001c0001t0001g0039others(1): Show | 4 | 308 | 0.0130 | -6 | c.240 others(25): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 24/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130147071 | CTAAAAA | C | intron_variant | MODIFIER | HG00423.hp2 HG00738.hp2 HG01256.hp1 others(7): Show |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0010 | a0002c0003t0001g0019a0002c0003t0001g0023a0002c0003t0001g0025others(7): Show | 10 | 308 | 0.0325 | -6 | c.108 others(25): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 13/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130174448 | CCAGTAA | C | intron_variant | MODIFIER | HG01175.hp2 HG01943.hp2 HG03017.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0005a0001c0001t0009g0006a0001c0001t0009g0007others(1): Show | 4 | 308 | 0.0130 | -6 | c.746 others(23): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 9/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130178644 | TAGGCCA | T | intron_variant | MODIFIER | HG00423.hp2 HG00738.hp2 HG01256.hp1 others(10): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0002t0002a0002c0003t0001others(1): Show | a0002c0002t0001g0160a0002c0002t0002g0161a0002c0003t0001g0019others(10): Show | 13 | 308 | 0.0422 | -6 | c.746 others(21): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 9/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130256738 | CTTATAT | C | intron_variant | MODIFIER | HG00423.hp2 HG01934.hp1 NA18942.hp2 |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0002a0001c0004t0002a0002c0003t0001 | a0001c0001t0002g0024a0001c0004t0002g0189a0002c0003t0001g0023 | 3 | 308 | 0.0097 | -6 | c.187 others(25): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130256739 | TTATATA | T | intron_variant | MODIFIER | HG02897.hp1 HG03704.hp2 HG04204.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003a0002c0002t0029 | a0001c0001t0001g0271a0002c0002t0003g0130a0002c0002t0003g0131others(1): Show | 4 | 308 | 0.0130 | -6 | c.187 others(25): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130262416 | AAGAGAG | A | intron_variant | MODIFIER | HG02056.hp2 HG02572.hp2 HG02723.hp1 others(4): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(2): Show | a0001c0001t0001g0245a0001c0001t0002g0175a0001c0001t0012g0295others(4): Show | 7 | 308 | 0.0227 | -6 | c.187 others(25): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130268490 | AACACAC | A | intron_variant | MODIFIER | HG00099.hp1 HG00735.hp2 HG01891.hp2 others(6): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0010 | a0001c0001t0002a0001c0001t0008a0001c0001t0018others(3): Show | a0001c0001t0002g0213a0001c0001t0008g0011a0001c0001t0008g0017others(6): Show | 9 | 308 | 0.0292 | -6 | c.187 others(25): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130284842 | TACACAC | T | intron_variant | MODIFIER | HG00323.hp1 HG00597.hp2 HG00609.hp1 others(30): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0011 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0012a0001c0001t0001g0013a0002c0002t0001g0014others(30): Show | 33 | 308 | 0.1071 | -6 | c.187 others(25): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130300113 | TACACAC | T | intron_variant | MODIFIER | HG02698.hp1 HG03471.hp2 homoSapiens_chm13v2.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0019a0002c0002t0001 | a0001c0001t0001g0245a0001c0001t0019g0286a0002c0002t0001g0076 | 3 | 308 | 0.0097 | -6 | c.186 others(25): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130352212 | GTTTTTT | G | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp2 HG02071.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0024a0002c0002t0001 | a0001c0001t0002g0173a0001c0001t0002g0206a0001c0001t0002g0207others(4): Show | 7 | 308 | 0.0227 | -6 | c.186 others(23): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130359435 | AAAGAAG | A | intron_variant | MODIFIER | HG01175.hp2 HG01943.hp2 HG03017.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0005a0001c0001t0009g0006a0001c0001t0009g0007others(1): Show | 4 | 308 | 0.0130 | -6 | c.60- others(21): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130373015 | CACACAG | C | intron_variant | MODIFIER | HG00323.hp1 HG00597.hp2 HG00609.hp1 others(32): Show |
a0002 | a0002c0002a0002c0011 | a0002c0002t0001a0002c0002t0002a0002c0002t0011others(1): Show | a0002c0002t0001g0060a0002c0002t0001g0061a0002c0002t0001g0063others(32): Show | 35 | 308 | 0.1136 | -6 | c.60- others(23): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130373109 | TATACAC | T | intron_variant | MODIFIER | HG00099.hp1 HG01496.hp2 HG01891.hp1 others(31): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(12): Show | a0001c0001t0001g0020a0001c0001t0001g0038a0001c0001t0001g0039others(31): Show | 34 | 308 | 0.1104 | -6 | c.60- others(23): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130376903 | CAAAAAA | C | intron_variant | MODIFIER | HG01192.hp2 HG01255.hp2 HG01361.hp2 others(17): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(8): Show | a0001c0001t0001g0053a0001c0001t0001g0163a0001c0001t0001g0253others(17): Show | 20 | 308 | 0.0649 | -6 | c.60- others(23): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130389758 | TGGCACA | T | intron_variant | MODIFIER | HG03239.hp2 HG03942.hp1 HG04228.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0139a0002c0002t0003g0140a0002c0002t0003g0141 | 3 | 308 | 0.0097 | -6 | c.59+ others(23): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130420235 | TACACAC | T | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(61): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(15): Show | a0001c0001t0001g0013a0001c0001t0001g0038a0001c0001t0001g0042others(61): Show | 64 | 308 | 0.2078 | -6 | c.-27 others(25): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 1/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130445972 | CAAAAAA | C | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00738.hp2 HG01256.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0002a0002c0002t0001a0002c0003t0001others(1): Show | a0001c0001t0002g0027a0002c0002t0001g0014a0002c0003t0001g0019others(8): Show | 11 | 308 | 0.0357 | -6 | c.-25 others(17): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2299 | chr8 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9235319 | GTTTTCT | G | intron_variant | MODIFIER | HG00735.hp2 HG01346.hp1 HG01358.hp2 others(7): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0003a0001c0002t0008a0002c0001t0001others(1): Show | a0001c0002t0003g0094a0001c0002t0008g0206a0002c0001t0001g0042others(7): Show | 10 | 210 | 0.0476 | -6 | c.126 others(25): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ASAP2_chr2_9201812_9410678 | 9238069 | ATGGCTC | A | intron_variant | MODIFIER | HG00735.hp2 HG01346.hp1 HG01358.hp2 others(6): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0003a0002c0001t0001a0002c0001t0014 | a0001c0002t0003g0094a0002c0001t0001g0042a0002c0001t0001g0088others(6): Show | 9 | 210 | 0.0429 | -6 | c.126 others(25): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ASAP2_chr2_9201812_9410678 | 9274630 | CAATCTT | C | intron_variant | MODIFIER | HG03130.hp1 HG03471.hp1 NA18906.hp2 |
a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0021a0001c0004t0005g0034a0001c0004t0005g0144 | 3 | 210 | 0.0143 | -6 | c.127 others(23): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ASAP2_chr2_9201812_9410678 | 9313417 | ATTCATG | A | intron_variant | MODIFIER | HG02647.hp2 HG06807.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0019a0001c0003t0021 | a0001c0002t0019g0164a0001c0003t0021g0040 | 2 | 210 | 0.0095 | -6 | c.346 others(23): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ASAP2_chr2_9201812_9410678 | 9361974 | CGTGTGT | C | intron_variant | MODIFIER | HG03139.hp2 NA19043.hp2 NA20129.hp1 |
a0001 | a0001c0003a0001c0010a0001c0013 | a0001c0003t0001a0001c0010t0018a0001c0013t0017 | a0001c0003t0001g0210a0001c0010t0018g0173a0001c0013t0017g0045 | 3 | 210 | 0.0143 | -6 | c.146 others(25): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ASAP2_chr2_9201812_9410678 | 9365919 | GAACTTA | G | intron_variant | MODIFIER | HG02647.hp2 NA19043.hp2 |
a0001 | a0001c0002a0001c0013 | a0001c0002t0019a0001c0013t0017 | a0001c0002t0019g0164a0001c0013t0017g0045 | 2 | 210 | 0.0095 | -6 | c.146 others(25): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ASAP2_chr2_9201812_9410678 | 9395594 | CTTTTTT | C | intron_variant | MODIFIER | HG00639.hp1 HG01109.hp2 HG01884.hp2 others(20): Show |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0003a0001c0003t0004a0001c0003t0016others(1): Show | a0001c0002t0003g0149a0001c0003t0004g0011a0001c0003t0004g0038others(20): Show | 23 | 210 | 0.1095 | -6 | c.268 others(25): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 24/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ASAP3_chr1_23423563_23489179 | 23425176 | CGTGTGT | C | downstream_gene_variant | MODIFIER | HG00558.hp2 HG00642.hp2 HG00733.hp1 others(42): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(3): Show | a0001c0001t0001g0006a0001c0001t0001g0023a0001c0001t0001g0037others(41): Show | 45 | 346 | 0.1301 | -6 | c.*46 others(17): Show |
ASAP3 | ENSG00000088280.21 | transcript | ENST00000336689.8 | protein_coding | 3386 | chr1 | TogoVar | ||||||
ASAP3_chr1_23423563_23489179 | 23464659 | TAAAAAA | T | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00423.hp1 others(44): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0011others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0015a0001c0001t0001g0187a0001c0001t0001g0189others(40): Show | 47 | 346 | 0.1358 | -6 | c.130 others(23): Show |
ASAP3 | ENSG00000088280.21 | transcript | ENST00000336689.8 | protein_coding | 1/24 | chr1 | TogoVar | ||||||
ASB12_chrX_64219194_64235607 | 64235197 | TTGTGTG | T | upstream_gene_variant | MODIFIER | HG01934.hp1 HG02257.hp1 HG02280.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0017 | 7 | 289 | 0.0242 | -6 | c.-47 others(17): Show |
ASB12 | ENSG00000198881.10 | transcript | ENST00000362002.3 | protein_coding | 4591 | chrX | TogoVar | ||||||
ASB13_chr10_5633867_5671595 | 5652021 | AAAAACC | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(61): Show |
a0001a0006a0009 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0051a0001c0001t0001g0056a0001c0001t0001g0379others(55): Show | 64 | 446 | 0.1435 | -6 | c.232 others(21): Show |
ASB13 | ENSG00000196372.13 | transcript | ENST00000357700.11 | protein_coding | 2/5 | chr10 | TogoVar | ||||||
ASB14_chr3_57263342_57297685 | 57279007 | TAGTATC | T | intron_variant | MODIFIER | HG01109.hp2 HG02451.hp1 HG02717.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0147a0001c0001t0006g0148a0001c0001t0006g0149others(2): Show | 5 | 336 | 0.0149 | -6 | c.888 others(19): Show |
ASB14 | ENSG00000239388.10 | transcript | ENST00000487349.6 | protein_coding | 7/10 | chr3 | TogoVar | ||||||
ASB15_chr7_123596821_123644481 | 123597917 | CGTGTGT | C | upstream_gene_variant | MODIFIER | HG01175.hp2 HG02683.hp2 HG03491.hp1 others(3): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0008 | a0001c0001t0003a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0003g0175a0001c0002t0001g0010a0001c0002t0001g0144others(3): Show | 6 | 380 | 0.0158 | -6 | c.-42 others(17): Show |
ASB15 | ENSG00000146809.14 | transcript | ENST00000451215.6 | protein_coding | 3903 | chr7 | TogoVar | ||||||
ASB15_chr7_123596821_123644481 | 123620503 | CATACAT | C | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 HG02970.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0008a0001c0002t0001g0115a0001c0002t0001g0153others(2): Show | 6 | 380 | 0.0158 | -6 | c.451 others(23): Show |
ASB15 | ENSG00000146809.14 | transcript | ENST00000451215.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ASB15_chr7_123596821_123644481 | 123620554 | ATTTTTT | A | intron_variant | MODIFIER | HG01069.hp2 HG02273.hp2 HG02630.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0056a0001c0001t0003g0346a0001c0001t0003g0347others(4): Show | 7 | 380 | 0.0184 | -6 | c.451 others(23): Show |
ASB15 | ENSG00000146809.14 | transcript | ENST00000451215.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ASB15_chr7_123596821_123644481 | 123640703 | AGGAGGG | A | downstream_gene_variant | MODIFIER | HG00738.hp1 HG02145.hp2 HG02559.hp2 others(3): Show |
a0001a0003a0007others(1): Show | a0001c0001a0003c0006a0007c0010others(1): Show | a0001c0001t0005a0003c0006t0012a0007c0010t0023others(3): Show | a0001c0001t0005g0071a0003c0006t0012g0186a0007c0010t0023g0125others(3): Show | 6 | 380 | 0.0158 | -6 | c.*37 others(17): Show |
ASB15 | ENSG00000146809.14 | transcript | ENST00000451215.6 | protein_coding | 1223 | chr7 | TogoVar | ||||||
ASB17_chr1_75913873_75937404 | 75922488 | CTTTTTT | C | intron_variant | MODIFIER | HG01255.hp1 HG01433.hp2 HG01891.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0014a0001c0001t0001g0035a0001c0001t0001g0036others(7): Show | 17 | 412 | 0.0413 | -6 | c.402 others(21): Show |
ASB17 | ENSG00000154007.7 | transcript | ENST00000284142.7 | protein_coding | 1/2 | chr1 | TogoVar | ||||||
ASB18_chr2_236188459_236269406 | 236221224 | GCAACAA | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(102): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0003a0001c0008others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(21): Show | a0001c0001t0001g0014a0001c0001t0001g0031a0001c0001t0001g0040others(100): Show | 105 | 250 | 0.4200 | -6 | c.597 others(23): Show |
ASB18 | ENSG00000182177.15 | transcript | ENST00000409749.8 | protein_coding | 3/5 | chr2 | TogoVar | ||||||
ASB18_chr2_236188459_236269406 | 236246346 | CAAAAAA | C | intron_variant | MODIFIER | HG02257.hp1 HG02615.hp2 HG02809.hp1 others(2): Show |
a0001a0003 | a0001c0003a0003c0004 | a0001c0003t0001a0001c0003t0002a0003c0004t0004 | a0001c0003t0001g0211a0001c0003t0001g0212a0001c0003t0001g0213others(2): Show | 5 | 250 | 0.0200 | -6 | c.206 others(23): Show |
ASB18 | ENSG00000182177.15 | transcript | ENST00000409749.8 | protein_coding | 1/5 | chr2 | TogoVar | ||||||
ASB18_chr2_236188459_236269406 | 236252267 | TCACACA | T | intron_variant | MODIFIER | HG00621.hp1 HG01496.hp2 HG01993.hp2 others(14): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0007a0002c0002others(4): Show | a0001c0001t0001a0001c0007t0007a0002c0002t0001others(4): Show | a0001c0001t0001g0201a0001c0007t0007g0001a0001c0007t0007g0235others(11): Show | 17 | 250 | 0.0680 | -6 | c.206 others(25): Show |
ASB18 | ENSG00000182177.15 | transcript | ENST00000409749.8 | protein_coding | 1/5 | chr2 | TogoVar | ||||||
ASB18_chr2_236188459_236269406 | 236253535 | CTTATTA | C | intron_variant | MODIFIER | HG00597.hp2 HG01346.hp1 HG01346.hp2 others(56): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0008others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(20): Show | a0001c0001t0001g0014a0001c0001t0001g0203a0001c0001t0001g0204others(54): Show | 59 | 250 | 0.2360 | -6 | c.205 others(25): Show |
ASB18 | ENSG00000182177.15 | transcript | ENST00000409749.8 | protein_coding | 1/5 | chr2 | TogoVar |