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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AHDC1_chr1_27529245_27609144 | 27595450 | C | CTGTGTGT others(7): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 180 | 0.0056 | 14 | c.-62 others(33): Show |
AHDC1 | ENSG00000126705.15 | transcript | ENST00000673934.1 | protein_coding | 3/8 | chr1 | TogoVar | ||||||
AHDC1_chr1_27529245_27609144 | 27608841 | C | CGTGTGTG others(7): Show |
upstream_gene_variant | MODIFIER | HG02976.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0101 | 2 | 180 | 0.0111 | 14 | c.-55 others(25): Show |
AHDC1 | ENSG00000126705.15 | transcript | ENST00000673934.1 | protein_coding | 4698 | chr1 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135290913 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01109.hp1 HG03225.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0081a0001c0001t0002g0202a0001c0001t0002g0203others(2): Show | 5 | 220 | 0.0227 | 14 | c.348 others(31): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 27/28 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135340672 | T | TATACACA others(7): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0021 | a0001c0021t0010 | a0001c0021t0010g0181 | 1 | 220 | 0.0046 | 14 | c.316 others(35): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 24/28 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135344926 | T | TCACACAC others(7): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01891.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0012a0001c0002t0001others(2): Show | a0001c0001t0002g0199a0001c0001t0012g0019a0001c0002t0001g0021others(4): Show | 7 | 220 | 0.0318 | 14 | c.316 others(35): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 24/28 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135383226 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02886.hp1 NA19240.hp2 |
a0001a0008 | a0001c0001a0008c0019 | a0001c0001t0003a0008c0019t0003 | a0001c0001t0003g0033a0008c0019t0003g0211 | 2 | 220 | 0.0091 | 14 | c.310 others(35): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135482894 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159a0001c0001t0001g0160 | 2 | 220 | 0.0091 | 14 | c.135 others(31): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 5/28 | chr6 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 318212 | A | ACCTCCCC others(7): Show |
upstream_gene_variant | MODIFIER | HG01261.hp1 HG02145.hp1 HG02258.hp2 others(13): Show |
a0001a0004a0006others(1): Show | a0001c0001a0004c0003a0006c0006others(1): Show | a0001c0001t0024a0001c0001t0032a0004c0003t0007others(7): Show | a0001c0001t0024g0031a0001c0001t0032g0227a0004c0003t0007g0221others(13): Show | 16 | 268 | 0.0597 | 14 | c.-36 others(25): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3501 | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 340664 | T | TTATATAT others(7): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 268 | 0.0037 | 14 | c.-10 others(31): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 340688 | A | ATATATTT others(7): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0004 | a0004c0003 | a0004c0003t0007 | a0004c0003t0007g0221 | 1 | 268 | 0.0037 | 14 | c.-10 others(31): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 345382 | A | ATGTGTGT others(7): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0006 | a0006c0006 | a0006c0006t0030 | a0006c0006t0030g0241 | 1 | 268 | 0.0037 | 14 | c.62+ others(29): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHR_chr7_17293652_17351147 | 17294004 | G | GTGTATAT others(7): Show |
upstream_gene_variant | MODIFIER | HG02698.hp2 NA18967.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0002 | a0001c0001t0004g0007a0002c0002t0002g0030 | 2 | 370 | 0.0054 | 14 | c.-52 others(25): Show |
AHR | ENSG00000106546.14 | transcript | ENST00000242057.9 | protein_coding | 4647 | chr7 | TogoVar | ||||||
AHSA1_chr14_77453093_77474472 | 77468721 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0084 | 1 | 308 | 0.0033 | 14 | c.844 others(29): Show |
AHSA1 | ENSG00000100591.8 | transcript | ENST00000216479.8 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AIDA_chr1_222663013_222717491 | 222689481 | G | GTGTATAT others(7): Show |
intron_variant | MODIFIER | HG03927.hp2 NA19004.hp2 NA19067.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0124a0001c0001t0002g0173a0001c0001t0002g0268 | 3 | 368 | 0.0082 | 14 | c.290 others(31): Show |
AIDA | ENSG00000186063.13 | transcript | ENST00000340020.11 | protein_coding | 4/9 | chr1 | TogoVar | ||||||
AIDA_chr1_222663013_222717491 | 222689520 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0095 | 1 | 368 | 0.0027 | 14 | c.290 others(31): Show |
AIDA | ENSG00000186063.13 | transcript | ENST00000340020.11 | protein_coding | 4/9 | chr1 | TogoVar | ||||||
AIDA_chr1_222663013_222717491 | 222689520 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG02080.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0139a0001c0001t0002g0144a0001c0001t0002g0167 | 3 | 368 | 0.0082 | 14 | c.290 others(31): Show |
AIDA | ENSG00000186063.13 | transcript | ENST00000340020.11 | protein_coding | 4/9 | chr1 | TogoVar | ||||||
AIDA_chr1_222663013_222717491 | 222689520 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 HG02080.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016a0001c0001t0002g0270 | 3 | 368 | 0.0082 | 14 | c.290 others(31): Show |
AIDA | ENSG00000186063.13 | transcript | ENST00000340020.11 | protein_coding | 4/9 | chr1 | TogoVar | ||||||
AIF1L_chr9_131091531_131128144 | 131110435 | G | GTGTTAAA others(7): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0276 | 1 | 424 | 0.0024 | 14 | c.94- others(29): Show |
AIF1L | ENSG00000126878.13 | transcript | ENST00000247291.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AIF1L_chr9_131091531_131128144 | 131125321 | A | AGATTTCA others(7): Show |
downstream_gene_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0274 | 1 | 424 | 0.0024 | 14 | c.*49 others(25): Show |
AIF1L | ENSG00000126878.13 | transcript | ENST00000247291.8 | protein_coding | 2178 | chr9 | TogoVar | ||||||
AIFM1_chrX_130124362_130170841 | 130146451 | A | ATGTGTGT others(7): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0016a0001c0002t0001g0017 | 2 | 262 | 0.0076 | 14 | c.606 others(29): Show |
AIFM1 | ENSG00000156709.15 | transcript | ENST00000287295.8 | protein_coding | 5/15 | chrX | TogoVar | ||||||
AIFM2_chr10_70107271_70137825 | 70136527 | T | TTGTGTGT others(7): Show |
upstream_gene_variant | MODIFIER | HG03195.hp2 NA19088.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0006t0006 | a0001c0001t0002g0013a0001c0006t0006g0232 | 2 | 468 | 0.0043 | 14 | c.-38 others(25): Show |
AIFM2 | ENSG00000042286.15 | transcript | ENST00000307864.3 | protein_coding | 3703 | chr10 | TogoVar | ||||||
AIFM3_chr22_20962255_20986358 | 20968796 | G | GCCCCAGC others(7): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0234 | 1 | 456 | 0.0022 | 14 | c.31+ others(27): Show |
AIFM3 | ENSG00000183773.16 | transcript | ENST00000440238.4 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
AIG1_chr6_143055889_143346058 | 143143518 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0069 | 1 | 204 | 0.0049 | 14 | c.297 others(31): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AIG1_chr6_143055889_143346058 | 143143528 | A | AAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0157 | 1 | 204 | 0.0049 | 14 | c.297 others(31): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AIG1_chr6_143055889_143346058 | 143143528 | A | AAAAAATA others(7): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0042 | 1 | 204 | 0.0049 | 14 | c.297 others(31): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AIMP2_chr7_6004272_6028834 | 6009972 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0347 | 1 | 442 | 0.0023 | 14 | c.135 others(29): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AIMP2_chr7_6004272_6028834 | 6009974 | A | AAAAAAAA others(7): Show |
intron_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 442 | 0.0023 | 14 | c.135 others(29): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AIMP2_chr7_6004272_6028834 | 6009974 | A | AAAAAATA others(7): Show |
intron_variant | MODIFIER | NA18994.hp2 NA19000.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192a0001c0001t0001g0193 | 2 | 442 | 0.0045 | 14 | c.135 others(29): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AIMP2_chr7_6004272_6028834 | 6009974 | A | AAAATATA others(7): Show |
intron_variant | MODIFIER | HG02630.hp1 NA18953.hp2 NA19080.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032a0001c0001t0001g0220 | 3 | 442 | 0.0068 | 14 | c.135 others(29): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AIMP2_chr7_6004272_6028834 | 6009974 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 | 1 | 442 | 0.0023 | 14 | c.135 others(29): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AIMP2_chr7_6004272_6028834 | 6018968 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01496.hp1 HG02055.hp2 others(14): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0017a0001c0001t0001g0061a0001c0001t0001g0063others(11): Show | 17 | 442 | 0.0385 | 14 | c.574 others(29): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AIPL1_chr17_6418738_6440121 | 6421853 | A | AAAAGAAA others(7): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0004 | a0001c0004t0048 | a0001c0004t0048g0130 | 1 | 454 | 0.0022 | 14 | c.*36 others(25): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 1884 | chr17 | TogoVar | ||||||
AIPL1_chr17_6418738_6440121 | 6423531 | C | CAAAAAAA others(7): Show |
downstream_gene_variant | MODIFIER | HG04184.hp2 NA18973.hp2 |
a0001 | a0001c0004 | a0001c0004t0011a0001c0004t0020 | a0001c0004t0011g0134a0001c0004t0020g0200 | 2 | 454 | 0.0044 | 14 | c.*19 others(25): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 206 | chr17 | TogoVar | ||||||
AIPL1_chr17_6418738_6440121 | 6423531 | C | CAAAAAAA others(7): Show |
downstream_gene_variant | MODIFIER | HG00609.hp2 NA18966.hp2 NA18992.hp2 |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0014 | a0002c0003t0001g0001a0002c0003t0001g0064a0002c0003t0014g0013 | 3 | 454 | 0.0066 | 14 | c.*19 others(25): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 206 | chr17 | TogoVar | ||||||
AIPL1_chr17_6418738_6440121 | 6433586 | A | ATCTCTCT others(7): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02723.hp1 HG02895.hp1 others(3): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0007a0001c0004t0006a0001c0004t0016 | a0001c0002t0007g0356a0001c0004t0006g0061a0001c0004t0016g0059others(3): Show | 6 | 454 | 0.0132 | 14 | c.276 others(29): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 2/5 | chr17 | TogoVar | ||||||
AIRE_chr21_44280876_44303648 | 44303441 | A | AAAAAGAC others(7): Show |
downstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01074.hp2 others(4): Show |
a0001a0002 | a0001c0004a0001c0041a0002c0007 | a0001c0004t0003a0001c0041t0001a0002c0007t0003 | a0001c0004t0003g0025a0001c0041t0001g0001a0002c0007t0003g0042others(1): Show | 7 | 426 | 0.0164 | 14 | c.*57 others(25): Show |
AIRE | ENSG00000160224.17 | transcript | ENST00000291582.6 | protein_coding | 4794 | chr21 | TogoVar | ||||||
AJAP1_chr1_4649609_4797534 | 4679808 | G | GGTGTGTG others(7): Show |
intron_variant | MODIFIER | NA18985.hp1 NA19005.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0009a0002c0004t0049 | a0001c0001t0009g0113a0002c0004t0049g0266 | 2 | 334 | 0.0060 | 14 | c.29+ others(31): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AJAP1_chr1_4649609_4797534 | 4705395 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0013 | 1 | 334 | 0.0030 | 14 | c.30- others(29): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AJM1_chr9_136837478_136853801 | 136848939 | A | AGAGAGCG others(7): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 HG03516.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0001a0001c0007t0001g0001 | 2 | 364 | 0.0055 | 14 | c.*15 others(25): Show |
AJM1 | ENSG00000232434.3 | transcript | ENST00000436881.3 | protein_coding | 139 | chr9 | TogoVar | ||||||
AK3_chr9_4704556_4746202 | 4713979 | C | CACACCTA others(7): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0104 | 1 | 462 | 0.0022 | 14 | c.564 others(29): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 4/4 | chr9 | TogoVar | ||||||
AK3_chr9_4704556_4746202 | 4714011 | C | CCTACACA others(7): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0421 | 1 | 462 | 0.0022 | 14 | c.564 others(29): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 4/4 | chr9 | TogoVar | ||||||
AK3_chr9_4704556_4746202 | 4728866 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0086 | 1 | 462 | 0.0022 | 14 | c.152 others(31): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 1/4 | chr9 | TogoVar | ||||||
AK3_chr9_4704556_4746202 | 4728866 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0108 | 1 | 462 | 0.0022 | 14 | c.152 others(31): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 1/4 | chr9 | TogoVar | ||||||
AK3_chr9_4704556_4746202 | 4728998 | C | CACACACA others(7): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0092 | 1 | 462 | 0.0022 | 14 | c.152 others(31): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 1/4 | chr9 | TogoVar | ||||||
AK3_chr9_4704556_4746202 | 4728998 | C | CACACACA others(7): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0320 | 1 | 462 | 0.0022 | 14 | c.152 others(31): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 1/4 | chr9 | TogoVar | ||||||
AK3_chr9_4704556_4746202 | 4728998 | C | CACACATA others(7): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01109.hp1 HG02071.hp1 others(25): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0002g0034a0001c0001t0002g0036a0001c0001t0002g0147others(24): Show | 28 | 462 | 0.0606 | 14 | c.152 others(31): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 1/4 | chr9 | TogoVar | ||||||
AK3_chr9_4704556_4746202 | 4734318 | A | ATAAATTA others(7): Show |
intron_variant | MODIFIER | HG02074.hp1 NA19075.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0245a0001c0001t0002g0247 | 2 | 462 | 0.0043 | 14 | c.151 others(31): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 1/4 | chr9 | TogoVar | ||||||
AK3_chr9_4704556_4746202 | 4734318 | A | ATAAATTA others(7): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp2 others(291): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(54): Show | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0013others(280): Show | 294 | 462 | 0.6364 | 14 | c.151 others(31): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 1/4 | chr9 | TogoVar | ||||||
AK4_chr1_65143203_65237145 | 65152360 | C | CTCTCTAT others(7): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0270 | 1 | 300 | 0.0033 | 14 | c.145 others(31): Show |
AK4 | ENSG00000162433.15 | transcript | ENST00000327299.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK4_chr1_65143203_65237145 | 65152360 | C | CTCTCTCT others(7): Show |
intron_variant | MODIFIER | NA19076.hp2 NA19091.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0002t0003 | a0001c0001t0013g0246a0001c0002t0003g0271 | 2 | 300 | 0.0067 | 14 | c.145 others(31): Show |
AK4 | ENSG00000162433.15 | transcript | ENST00000327299.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |