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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AHCYL2_chr7_129220030_129435211 | 129243953 | C | CTTATT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG01070.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0140a0001c0002t0001g0267a0001c0002t0001g0269others(2): Show | 5 | 292 | 0.0171 | 5 | c.363 others(24): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AHCYL2_chr7_129220030_129435211 | 129322420 | G | GTGAGC | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01123.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(7): Show | a0001c0001t0001g0115a0001c0001t0001g0122a0001c0001t0001g0124others(23): Show | 26 | 292 | 0.0890 | 5 | c.364 others(24): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | chr7 | TogoVar | ||||||
AHCYL2_chr7_129220030_129435211 | 129336020 | G | GTTTCT | intron_variant | MODIFIER | HG01099.hp1 HG02559.hp2 HG02615.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0027 | a0001c0001t0007g0285a0001c0001t0007g0286a0001c0001t0007g0287others(2): Show | 5 | 292 | 0.0171 | 5 | c.364 others(24): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AHCYL2_chr7_129220030_129435211 | 129369215 | T | TTTTAA | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(139): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(20): Show | a0001c0001t0001g0002a0001c0001t0001g0012a0001c0001t0001g0013others(139): Show | 142 | 292 | 0.4863 | 5 | c.364 others(24): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AHCY_chr20_34275268_34308355 | 34305159 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG00738.hp2 HG01169.hp1 HG01243.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0004a0001c0001t0002g0021a0001c0001t0002g0037others(11): Show | 25 | 300 | 0.0833 | 5 | c.-18 others(16): Show |
AHCY | ENSG00000101444.13 | transcript | ENST00000217426.7 | protein_coding | 1805 | chr20 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135294324 | T | TCAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00609.hp2 HG01071.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0007a0001c0001t0001g0054a0001c0001t0001g0076others(22): Show | 25 | 220 | 0.1136 | 5 | c.348 others(24): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 27/28 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135376881 | C | CAAAAA | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02630.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0012others(1): Show | a0001c0001t0002g0041a0001c0001t0003g0037a0001c0001t0003g0038others(5): Show | 8 | 220 | 0.0364 | 5 | c.310 others(26): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135471572 | C | CAAATT | intron_variant | MODIFIER | HG00639.hp1 HG02647.hp1 HG02976.hp2 others(5): Show |
a0001 | a0001c0001a0001c0018 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0171a0001c0001t0002g0172a0001c0001t0002g0173others(5): Show | 8 | 220 | 0.0364 | 5 | c.136 others(22): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 5/28 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135483042 | C | CCACCA | intron_variant | MODIFIER | HG01891.hp2 HG02451.hp2 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0049a0001c0001t0003g0050a0001c0001t0004g0048 | 3 | 220 | 0.0136 | 5 | c.135 others(22): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 5/28 | chr6 | TogoVar | ||||||
AHNAK_chr11_62510902_62551806 | 62549902 | T | TTTTTG | upstream_gene_variant | MODIFIER | HG00609.hp1 HG00673.hp2 HG00735.hp2 others(20): Show |
a0001a0009a0011others(6): Show | a0001c0002a0001c0019a0001c0029others(10): Show | a0001c0002t0001a0001c0002t0002a0001c0019t0001others(11): Show | a0001c0002t0001g0016a0001c0002t0001g0046a0001c0002t0002g0033others(13): Show | 23 | 186 | 0.1237 | 5 | c.-33 others(16): Show |
AHNAK | ENSG00000124942.14 | transcript | ENST00000378024.9 | protein_coding | 3097 | chr11 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 318112 | C | CACCCT | upstream_gene_variant | MODIFIER | HG01099.hp2 HG01891.hp1 HG02886.hp1 others(3): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0001a0001c0001t0013a0001c0001t0027others(2): Show | a0001c0001t0001g0152a0001c0001t0001g0156a0001c0001t0013g0154others(3): Show | 6 | 268 | 0.0224 | 5 | c.-37 others(16): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3601 | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 341485 | T | TTCCCC | intron_variant | MODIFIER | HG00280.hp1 HG00738.hp2 HG00741.hp2 others(43): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0004others(4): Show | a0001c0001t0029a0002c0002t0001a0002c0002t0006others(20): Show | a0001c0001t0029g0012a0001c0001t0029g0013a0002c0002t0001g0010others(41): Show | 46 | 268 | 0.1716 | 5 | c.-10 others(22): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 345003 | A | AGCTGT | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02896.hp1 others(1): Show |
a0004a0006a0007 | a0004c0003a0006c0006a0007c0007 | a0004c0003t0022a0006c0006t0021a0007c0007t0035 | a0004c0003t0022g0243a0006c0006t0021g0231a0006c0006t0021g0234others(1): Show | 4 | 268 | 0.0149 | 5 | c.62+ others(20): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 381506 | C | CTTTTT | intron_variant | MODIFIER | HG00621.hp2 HG01256.hp1 HG02602.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0002a0002c0002t0001a0002c0002t0006others(2): Show | a0001c0001t0002g0179a0002c0002t0001g0202a0002c0002t0006g0095others(3): Show | 6 | 268 | 0.0224 | 5 | c.351 others(22): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 441497 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG01891.hp1 HG01891.hp2 HG02257.hp2 others(9): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0003 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(5): Show | a0001c0001t0001g0156a0001c0001t0001g0253a0001c0001t0006g0262others(9): Show | 12 | 268 | 0.0448 | 5 | c.*66 others(16): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3213 | chr5 | TogoVar | ||||||
AHSA1_chr14_77453093_77474472 | 77454934 | A | AAACTG | upstream_gene_variant | MODIFIER | HG01109.hp1 HG02451.hp2 HG02572.hp1 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0021a0001c0002t0001g0022a0001c0002t0001g0033others(8): Show | 13 | 308 | 0.0422 | 5 | c.-32 others(16): Show |
AHSA1 | ENSG00000100591.8 | transcript | ENST00000216479.8 | protein_coding | 3158 | chr14 | TogoVar | ||||||
AIDA_chr1_222663013_222717491 | 222700971 | T | TTGGGG | intron_variant | MODIFIER | HG00735.hp1 HG01192.hp2 HG02257.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0006a0001c0001t0001g0014a0001c0001t0001g0015others(13): Show | 20 | 368 | 0.0544 | 5 | c.180 others(22): Show |
AIDA | ENSG00000186063.13 | transcript | ENST00000340020.11 | protein_coding | 2/9 | chr1 | TogoVar | ||||||
AIFM1_chrX_130124362_130170841 | 130135439 | T | TTTAAA | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0131 | 1 | 262 | 0.0038 | 5 | c.130 others(22): Show |
AIFM1 | ENSG00000156709.15 | transcript | ENST00000287295.8 | protein_coding | 12/15 | chrX | TogoVar | ||||||
AIG1_chr6_143055889_143346058 | 143314184 | T | TAAAAA | intron_variant | MODIFIER | HG00558.hp2 HG01074.hp1 HG01516.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0161a0001c0001t0002g0115a0001c0001t0002g0129others(14): Show | 17 | 204 | 0.0833 | 5 | c.516 others(24): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AIG1_chr6_143055889_143346058 | 143345694 | A | ATTTTT | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01169.hp2 HG02109.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0005others(2): Show | a0001c0001t0001g0116a0001c0001t0001g0172a0001c0001t0005g0017others(5): Show | 8 | 204 | 0.0392 | 5 | c.*60 others(16): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 4637 | chr6 | TogoVar | ||||||
AIMP1_chr4_106311550_106354456 | 106350000 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG01243.hp1 HG03041.hp1 HG03098.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020a0001c0001t0001g0037a0001c0001t0001g0098others(4): Show | 7 | 384 | 0.0182 | 5 | c.*23 others(16): Show |
AIMP1 | ENSG00000164022.18 | transcript | ENST00000672341.1 | protein_coding | 545 | chr4 | TogoVar | ||||||
AIMP1_chr4_106311550_106354456 | 106351113 | T | TATATG | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(307): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0011others(216): Show | 310 | 384 | 0.8073 | 5 | c.*34 others(16): Show |
AIMP1 | ENSG00000164022.18 | transcript | ENST00000672341.1 | protein_coding | 1658 | chr4 | TogoVar | ||||||
AIPL1_chr17_6418738_6440121 | 6421853 | A | AAAAAG | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00738.hp2 others(35): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(5): Show | a0001c0001t0002g0009a0001c0001t0002g0010a0001c0001t0002g0018others(26): Show | 38 | 454 | 0.0837 | 5 | c.*36 others(16): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 1884 | chr17 | TogoVar | ||||||
AIPL1_chr17_6418738_6440121 | 6430456 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00438.hp1 others(71): Show |
a0001a0002a0003 | a0001c0002a0002c0003a0002c0008others(1): Show | a0001c0002t0001a0002c0003t0001a0002c0003t0003others(9): Show | a0001c0002t0001g0030a0001c0002t0001g0138a0001c0002t0001g0216others(45): Show | 74 | 454 | 0.1630 | 5 | c.277 others(22): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 2/5 | chr17 | TogoVar | ||||||
AIPL1_chr17_6418738_6440121 | 6436026 | A | ATCCCC | upstream_gene_variant | MODIFIER | HG02074.hp1 HG02083.hp2 HG02135.hp1 others(14): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0004a0004c0006others(2): Show | a0001c0001t0002a0001c0004t0011a0001c0004t0026others(4): Show | a0001c0001t0002g0010a0001c0001t0002g0041a0001c0004t0011g0033others(12): Show | 17 | 454 | 0.0374 | 5 | c.-92 others(14): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 906 | chr17 | TogoVar | ||||||
AIPL1_chr17_6418738_6440121 | 6436034 | C | CCCTCT | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01167.hp1 HG01255.hp1 others(20): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0002a0001c0002t0041a0001c0004t0006others(6): Show | a0001c0001t0002g0197a0001c0002t0041g0345a0001c0004t0006g0061others(18): Show | 23 | 454 | 0.0507 | 5 | c.-93 others(14): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 914 | chr17 | TogoVar | ||||||
AJAP1_chr1_4649609_4797534 | 4753420 | T | TTATAA | intron_variant | MODIFIER | HG01243.hp1 HG02280.hp2 HG02630.hp1 others(6): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0015a0001c0002t0109a0001c0002t0160others(5): Show | a0001c0001t0015g0322a0001c0002t0109g0088a0001c0002t0160g0139others(6): Show | 9 | 334 | 0.0270 | 5 | c.830 others(24): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK1_chr9_127861486_127882675 | 127881054 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00423.hp2 others(136): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(103): Show | 139 | 426 | 0.3263 | 5 | c.-34 others(16): Show |
AK1 | ENSG00000106992.19 | transcript | ENST00000644144.2 | protein_coding | 3380 | chr9 | TogoVar | ||||||
AK3_chr9_4704556_4746202 | 4720689 | C | CAAAAA | intron_variant | MODIFIER | HG00438.hp2 HG00673.hp2 HG00735.hp2 others(36): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0005c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0001g0024a0001c0001t0001g0361a0001c0001t0003g0267others(35): Show | 39 | 462 | 0.0844 | 5 | c.272 others(22): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 2/4 | chr9 | TogoVar | ||||||
AK3_chr9_4704556_4746202 | 4729015 | A | ATTTTT | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp2 HG00735.hp1 others(75): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0011a0001c0001t0001g0191a0001c0001t0001g0384others(73): Show | 78 | 462 | 0.1688 | 5 | c.152 others(22): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 1/4 | chr9 | TogoVar | ||||||
AK4_chr1_65143203_65237145 | 65182537 | T | TAAAAA | intron_variant | MODIFIER | HG01167.hp2 HG01192.hp2 HG02896.hp1 others(6): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0009a0001c0001t0020a0001c0001t0056others(4): Show | a0001c0001t0009g0003a0001c0001t0020g0272a0001c0001t0020g0273others(6): Show | 9 | 300 | 0.0300 | 5 | c.146 others(22): Show |
AK4 | ENSG00000162433.15 | transcript | ENST00000327299.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK4_chr1_65143203_65237145 | 65200103 | T | TTTTTG | intron_variant | MODIFIER | HG00642.hp2 HG01069.hp2 HG01071.hp2 others(40): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0004a0001c0001t0009a0001c0001t0014others(26): Show | a0001c0001t0004g0264a0001c0001t0004g0265a0001c0001t0009g0003others(40): Show | 43 | 300 | 0.1433 | 5 | c.265 others(22): Show |
AK4 | ENSG00000162433.15 | transcript | ENST00000327299.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK4_chr1_65143203_65237145 | 65202866 | C | CTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00609.hp1 others(23): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(9): Show | a0001c0001t0001g0122a0001c0001t0004g0289a0001c0002t0002g0028others(23): Show | 26 | 300 | 0.0867 | 5 | c.265 others(24): Show |
AK4 | ENSG00000162433.15 | transcript | ENST00000327299.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK4_chr1_65143203_65237145 | 65215144 | T | TTTTTC | intron_variant | MODIFIER | HG00639.hp1 HG01123.hp2 HG01167.hp2 others(60): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0151a0001c0001t0002g0142a0001c0001t0002g0145others(60): Show | 63 | 300 | 0.2100 | 5 | c.266 others(22): Show |
AK4 | ENSG00000162433.15 | transcript | ENST00000327299.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK4_chr1_65143203_65237145 | 65232856 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG00609.hp2 HG00621.hp1 HG01109.hp2 others(24): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0027others(14): Show | a0001c0001t0001g0024a0001c0001t0001g0064a0001c0001t0001g0080others(24): Show | 27 | 300 | 0.0900 | 5 | c.*66 others(16): Show |
AK4 | ENSG00000162433.15 | transcript | ENST00000327299.8 | protein_coding | 712 | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77278204 | T | TCACAA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00735.hp2 HG01099.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0002 | a0001c0001t0001a0001c0009t0004a0002c0002t0002others(2): Show | a0001c0001t0001g0095a0001c0001t0001g0098a0001c0001t0001g0102others(8): Show | 11 | 284 | 0.0387 | 5 | c.-41 others(16): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 3814 | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77366926 | T | TGACTC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(236): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0008others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(32): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0006others(236): Show | 239 | 284 | 0.8416 | 5 | c.891 others(24): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77367904 | T | TATATA | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00438.hp2 others(37): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0010a0001c0001t0001g0028a0001c0001t0001g0042others(37): Show | 40 | 284 | 0.1409 | 5 | c.891 others(24): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK5_chr1_77277019_77564966 | 77368237 | A | ATATGT | intron_variant | MODIFIER | HG00621.hp2 HG00673.hp1 HG01517.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0004others(10): Show | a0001c0001t0001g0119a0001c0001t0001g0125a0001c0003t0001g0239others(18): Show | 21 | 284 | 0.0739 | 5 | c.891 others(24): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK5_chr1_77277019_77564966 | 77368241 | A | ATATGT | intron_variant | MODIFIER | HG01993.hp2 HG02258.hp1 HG02723.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0002c0002t0008others(3): Show | a0001c0001t0001g0103a0001c0001t0001g0104a0001c0001t0001g0280others(5): Show | 8 | 284 | 0.0282 | 5 | c.891 others(24): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK5_chr1_77277019_77564966 | 77368343 | A | ATATGT | intron_variant | MODIFIER | HG03098.hp2 HG03139.hp1 HG03209.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006 | a0001c0001t0024a0002c0002t0013a0002c0006t0014others(1): Show | a0001c0001t0024g0234a0002c0002t0013g0232a0002c0006t0014g0088others(1): Show | 4 | 284 | 0.0141 | 5 | c.891 others(24): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK5_chr1_77277019_77564966 | 77558035 | T | TTTAAG | intron_variant | MODIFIER | HG02145.hp2 HG02615.hp2 HG02630.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0007a0001c0003t0007 | a0001c0001t0007g0106a0001c0001t0007g0112a0001c0001t0007g0212others(3): Show | 6 | 284 | 0.0211 | 5 | c.162 others(22): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK7_chr14_96387128_96494427 | 96418322 | T | TAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00733.hp1 HG01361.hp1 others(11): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0009 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0014a0001c0001t0001g0017a0001c0001t0001g0034others(11): Show | 14 | 316 | 0.0443 | 5 | c.499 others(22): Show |
AK7 | ENSG00000140057.9 | transcript | ENST00000267584.9 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AK7_chr14_96387128_96494427 | 96420523 | A | AAAATG | intron_variant | MODIFIER | HG02486.hp1 HG02896.hp2 HG02897.hp1 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0005a0001c0001t0010a0001c0006t0002 | a0001c0001t0005g0065a0001c0001t0005g0258a0001c0001t0010g0260others(1): Show | 4 | 316 | 0.0127 | 5 | c.499 others(20): Show |
AK7 | ENSG00000140057.9 | transcript | ENST00000267584.9 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AK7_chr14_96387128_96494427 | 96420544 | T | TAATAA | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01891.hp2 others(17): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0133a0001c0001t0001g0150a0001c0001t0001g0250others(17): Show | 20 | 316 | 0.0633 | 5 | c.499 others(20): Show |
AK7 | ENSG00000140057.9 | transcript | ENST00000267584.9 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AK7_chr14_96387128_96494427 | 96425480 | A | ATTTTT | intron_variant | MODIFIER | HG00738.hp2 HG01952.hp1 HG01952.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0005a0001c0001t0001g0035a0001c0001t0001g0081others(5): Show | 8 | 316 | 0.0253 | 5 | c.609 others(22): Show |
AK7 | ENSG00000140057.9 | transcript | ENST00000267584.9 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AK8_chr9_132720578_132883284 | 132765292 | C | CAAAAA | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(57): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0038a0001c0001t0001g0039a0001c0001t0001g0040others(57): Show | 60 | 266 | 0.2256 | 5 | c.112 others(26): Show |
AK8 | ENSG00000165695.10 | transcript | ENST00000298545.4 | protein_coding | 11/12 | chr9 | TogoVar | ||||||
AK8_chr9_132720578_132883284 | 132853783 | C | CAAAAA | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00735.hp1 others(10): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0011t0001 | a0001c0001t0001g0126a0001c0001t0001g0130a0001c0001t0001g0133others(10): Show | 13 | 266 | 0.0489 | 5 | c.402 others(22): Show |
AK8 | ENSG00000165695.10 | transcript | ENST00000298545.4 | protein_coding | 5/12 | chr9 | TogoVar | ||||||
AK9_chr6_109487855_109696202 | 109531041 | C | CAAAAG | intron_variant | MODIFIER | HG01081.hp2 HG01993.hp2 NA18966.hp2 others(1): Show |
a0009a0018 | a0009c0011a0018c0022 | a0009c0011t0002a0018c0022t0002 | a0009c0011t0002g0114a0009c0011t0002g0121a0009c0011t0002g0124others(1): Show | 4 | 378 | 0.0106 | 5 | c.357 others(24): Show |
AK9 | ENSG00000155085.16 | transcript | ENST00000424296.7 | protein_coding | 28/40 | chr6 | TogoVar | ||||||
AK9_chr6_109487855_109696202 | 109576420 | C | CTTTTT | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00438.hp2 others(115): Show |
a0002a0003a0004others(3): Show | a0002c0010a0003c0003a0004c0004others(3): Show | a0002c0010t0001a0003c0003t0001a0004c0004t0001others(3): Show | a0002c0010t0001g0029a0003c0003t0001g0020a0003c0003t0001g0021others(115): Show | 118 | 378 | 0.3122 | 5 | c.219 others(24): Show |
AK9 | ENSG00000155085.16 | transcript | ENST00000424296.7 | protein_coding | 20/40 | chr6 | TogoVar |