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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AGXT_chr2_240863824_240885500 | 240880574 | C | CTTTTTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00544.hp2 others(38): Show |
a0001a0008a0012others(3): Show | a0001c0001a0001c0002a0008c0009others(4): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0021others(6): Show | a0001c0001t0002g0002a0001c0001t0002g0007a0001c0001t0002g0014others(14): Show | 41 | 444 | 0.0923 | 8 | c.*17 others(19): Show |
AGXT | ENSG00000172482.5 | transcript | ENST00000307503.4 | protein_coding | 75 | chr2 | TogoVar | ||||||
AHCTF1_chr1_246834098_246936948 | 246898621 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02165.hp2 HG02647.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(1): Show | a0001c0001t0001g0042a0001c0001t0004g0369a0001c0001t0004g0370others(8): Show | 11 | 376 | 0.0293 | 8 | c.149 others(25): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 11/35 | chr1 | TogoVar | ||||||
AHCTF1_chr1_246834098_246936948 | 246909079 | A | ATATCTAT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00544.hp1 others(67): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0018others(10): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0014others(14): Show | a0001c0001t0001g0046a0001c0001t0001g0133a0001c0001t0001g0154others(67): Show | 70 | 376 | 0.1862 | 8 | c.557 others(25): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 4/35 | chr1 | TogoVar | ||||||
AHCYL1_chr1_109979765_110028742 | 110026029 | C | CTTTTTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG00621.hp2 HG02109.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0040a0001c0001t0001g0111a0001c0001t0001g0198others(7): Show | 10 | 350 | 0.0286 | 8 | c.*43 others(19): Show |
AHCYL1 | ENSG00000168710.18 | transcript | ENST00000369799.10 | protein_coding | 2288 | chr1 | TogoVar | ||||||
AHCYL2_chr7_129220030_129435211 | 129267237 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(86): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0002a0001c0001t0001g0012a0001c0001t0001g0015others(86): Show | 89 | 292 | 0.3048 | 8 | c.363 others(27): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AHDC1_chr1_27529245_27609144 | 27595450 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02922.hp2 HG03195.hp1 |
a0001a0003 | a0001c0001a0001c0007a0003c0004 | a0001c0001t0001a0001c0007t0007a0003c0004t0006 | a0001c0001t0001g0165a0001c0007t0007g0060a0003c0004t0006g0061 | 3 | 180 | 0.0167 | 8 | c.-62 others(27): Show |
AHDC1 | ENSG00000126705.15 | transcript | ENST00000673934.1 | protein_coding | 3/8 | chr1 | TogoVar | ||||||
AHDC1_chr1_27529245_27609144 | 27608841 | C | CGTGTGTG others(1): Show |
upstream_gene_variant | MODIFIER | HG00642.hp2 HG02015.hp2 HG02135.hp2 others(9): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0006others(1): Show | a0001c0001t0001g0017a0001c0001t0001g0026a0001c0001t0001g0031others(9): Show | 12 | 180 | 0.0667 | 8 | c.-55 others(19): Show |
AHDC1 | ENSG00000126705.15 | transcript | ENST00000673934.1 | protein_coding | 4698 | chr1 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135290913 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG01952.hp2 HG02040.hp2 HG02258.hp2 others(9): Show |
a0001a0010 | a0001c0001a0001c0006a0010c0020 | a0001c0001t0002a0001c0001t0004a0001c0006t0002others(1): Show | a0001c0001t0002g0011a0001c0001t0002g0088a0001c0001t0002g0096others(9): Show | 12 | 220 | 0.0546 | 8 | c.348 others(25): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 27/28 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135340669 | A | ATATATAT others(1): Show |
intron_variant | MODIFIER | HG01928.hp2 HG02148.hp1 HG02148.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0210a0001c0001t0002g0128a0001c0001t0002g0204others(3): Show | 6 | 220 | 0.0273 | 8 | c.316 others(29): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 24/28 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135344926 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG00609.hp2 HG02004.hp2 HG02258.hp1 others(4): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0092a0001c0001t0001g0100a0001c0001t0003g0050others(4): Show | 7 | 220 | 0.0318 | 8 | c.316 others(29): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 24/28 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135377462 | G | GTTATTTA others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02258.hp2 HG02559.hp1 others(10): Show |
a0001a0008a0009 | a0001c0001a0001c0018a0008c0019others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0100a0001c0001t0001g0141a0001c0001t0002g0170others(10): Show | 13 | 220 | 0.0591 | 8 | c.310 others(29): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135422619 | T | TTATGTAT others(1): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02698.hp2 HG03130.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0144a0001c0001t0003g0050a0001c0001t0004g0048others(1): Show | 4 | 220 | 0.0182 | 8 | c.276 others(27): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 20/28 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135472018 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01934.hp1 HG01978.hp1 HG02148.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0122a0001c0001t0001g0123a0001c0001t0001g0129others(6): Show | 9 | 220 | 0.0409 | 8 | c.136 others(25): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 5/28 | chr6 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 332929 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02145.hp1 HG02886.hp2 others(2): Show |
a0004 | a0004c0003 | a0004c0003t0007a0004c0003t0009a0004c0003t0033 | a0004c0003t0007g0230a0004c0003t0007g0237a0004c0003t0007g0266others(2): Show | 5 | 268 | 0.0187 | 8 | c.-10 others(27): 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(1): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02818.hp2 HG02922.hp2 others(4): Show |
a0001a0004a0012 | a0001c0001a0004c0003a0012c0018 | a0001c0001t0001a0001c0001t0007a0001c0001t0017others(3): Show | a0001c0001t0001g0017a0001c0001t0001g0025a0001c0001t0007g0219others(4): Show | 7 | 268 | 0.0261 | 8 | c.62+ others(23): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 391919 | A | AGGGCGAT others(1): Show |
intron_variant | MODIFIER | HG00738.hp2 HG00741.hp2 HG01070.hp2 others(10): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0006a0001c0001t0022a0001c0001t0027others(6): Show | a0001c0001t0006g0262a0001c0001t0022g0238a0001c0001t0027g0153others(9): Show | 13 | 268 | 0.0485 | 8 | c.351 others(27): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 4/10 | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 392268 | G | GCACGAAC others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00735.hp2 HG01081.hp2 others(13): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(7): Show | a0001c0001t0001g0253a0001c0001t0001g0256a0001c0001t0001g0263others(13): Show | 16 | 268 | 0.0597 | 8 | c.351 others(27): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 441497 | C | CTTTTTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 HG02572.hp2 HG02809.hp2 others(3): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0013a0004c0003t0007a0004c0003t0013others(2): Show | a0001c0001t0013g0148a0001c0001t0013g0154a0004c0003t0007g0221others(3): Show | 6 | 268 | 0.0224 | 8 | c.*66 others(19): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3213 | chr5 | TogoVar | ||||||
AHR_chr7_17293652_17351147 | 17294004 | G | GTGTATAT others(1): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 HG01175.hp2 HG02015.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002a0002c0002t0017 | a0001c0001t0001g0101a0001c0001t0001g0102a0001c0001t0001g0103others(10): Show | 14 | 370 | 0.0378 | 8 | c.-52 others(19): Show |
AHR | ENSG00000106546.14 | transcript | ENST00000242057.9 | protein_coding | 4647 | chr7 | TogoVar | ||||||
AHR_chr7_17293652_17351147 | 17321594 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG03239.hp1 HG03239.hp2 NA19085.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0034 | a0001c0001t0001g0057a0001c0001t0001g0143a0001c0003t0034g0243 | 3 | 370 | 0.0081 | 8 | c.254 others(23): Show |
AHR | ENSG00000106546.14 | transcript | ENST00000242057.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AHSA1_chr14_77453093_77474472 | 77468721 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01255.hp2 HG01257.hp2 others(17): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0001 | a0001c0002t0001g0008a0001c0002t0001g0031a0001c0002t0001g0032others(7): Show | 20 | 308 | 0.0649 | 8 | c.844 others(23): 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(1): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01070.hp2 HG01071.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0003a0001c0001t0002g0018a0001c0001t0002g0104others(2): Show | 10 | 368 | 0.0272 | 8 | c.290 others(25): Show |
AIDA | ENSG00000186063.13 | transcript | ENST00000340020.11 | protein_coding | 4/9 | chr1 | TogoVar | ||||||
AIDA_chr1_222663013_222717491 | 222689520 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00544.hp2 HG03017.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0055a0001c0001t0002g0099a0001c0001t0002g0133others(11): Show | 14 | 368 | 0.0380 | 8 | c.290 others(25): Show |
AIDA | ENSG00000186063.13 | transcript | ENST00000340020.11 | protein_coding | 4/9 | chr1 | TogoVar | ||||||
AIF1L_chr9_131091531_131128144 | 131109223 | A | AATGAATG others(1): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01891.hp2 HG02109.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017a0001c0001t0034 | a0001c0001t0001g0033a0001c0001t0001g0143a0001c0001t0001g0144others(3): Show | 7 | 424 | 0.0165 | 8 | c.94- others(23): Show |
AIF1L | ENSG00000126878.13 | transcript | ENST00000247291.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AIFM1_chrX_130124362_130170841 | 130127036 | G | GGTGTGTG others(1): Show |
downstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0024 | 1 | 262 | 0.0038 | 8 | c.*25 others(19): Show |
AIFM1 | ENSG00000156709.15 | transcript | ENST00000287295.8 | protein_coding | 2325 | chrX | TogoVar | ||||||
AIFM1_chrX_130124362_130170841 | 130127691 | C | CTTTTTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 HG01175.hp1 HG01891.hp2 others(11): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0005 | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(1): Show | a0001c0002t0001g0003a0001c0002t0001g0098a0001c0002t0001g0104others(11): Show | 14 | 262 | 0.0534 | 8 | c.*18 others(19): Show |
AIFM1 | ENSG00000156709.15 | transcript | ENST00000287295.8 | protein_coding | 1670 | chrX | TogoVar | ||||||
AIFM1_chrX_130124362_130170841 | 130146451 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03041.hp1 HG03471.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0013a0001c0003t0001g0133 | 3 | 262 | 0.0115 | 8 | c.606 others(23): Show |
AIFM1 | ENSG00000156709.15 | transcript | ENST00000287295.8 | protein_coding | 5/15 | chrX | TogoVar | ||||||
AIFM1_chrX_130124362_130170841 | 130160883 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02896.hp2 HG02897.hp2 others(2): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0016a0001c0002t0001g0017a0001c0003t0001g0023others(2): Show | 5 | 262 | 0.0191 | 8 | c.107 others(25): Show |
AIFM1 | ENSG00000156709.15 | transcript | ENST00000287295.8 | protein_coding | 1/15 | chrX | TogoVar | ||||||
AIFM2_chr10_70107271_70137825 | 70136527 | T | TTGTGTGT others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00733.hp1 others(38): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(21): Show | a0001c0001t0001g0010a0001c0001t0001g0033a0001c0001t0001g0038others(36): Show | 41 | 468 | 0.0876 | 8 | c.-38 others(19): Show |
AIFM2 | ENSG00000042286.15 | transcript | ENST00000307864.3 | protein_coding | 3703 | chr10 | TogoVar | ||||||
AIG1_chr6_143055889_143346058 | 143065478 | T | TTCATTCA others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(107): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0156a0001c0001t0001g0161a0001c0001t0001g0165others(107): Show | 110 | 204 | 0.5392 | 8 | c.141 others(25): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AIG1_chr6_143055889_143346058 | 143065478 | T | TTCATTCA others(1): Show |
intron_variant | MODIFIER | NA18979.hp2 NA18983.hp1 NA19006.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0058a0001c0002t0001g0059a0001c0002t0003g0060 | 3 | 204 | 0.0147 | 8 | c.141 others(25): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AIG1_chr6_143055889_143346058 | 143196350 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG01071.hp1 HG03041.hp2 HG03927.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0005 | a0001c0001t0001g0103a0001c0001t0003g0203a0001c0002t0005g0073 | 3 | 204 | 0.0147 | 8 | c.399 others(27): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AIG1_chr6_143055889_143346058 | 143196350 | A | AACACACG others(1): Show |
intron_variant | MODIFIER | HG02886.hp1 HG02895.hp1 HG02896.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0002t0001a0001c0002t0003 | a0001c0001t0008g0192a0001c0001t0008g0193a0001c0001t0008g0195others(2): Show | 5 | 204 | 0.0245 | 8 | c.399 others(27): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AIG1_chr6_143055889_143346058 | 143274673 | G | GATGAATG others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG01169.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0002t0003others(1): Show | a0001c0001t0001g0116a0001c0001t0001g0173a0001c0001t0001g0174others(8): Show | 11 | 204 | 0.0539 | 8 | c.400 others(25): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AIM2_chr1_159057484_159081766 | 159075534 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03540.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079a0001c0001t0001g0112a0001c0001t0001g0132 | 3 | 394 | 0.0076 | 8 | c.-21 others(25): Show |
AIM2 | ENSG00000163568.16 | transcript | ENST00000368130.9 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
AIMP1_chr4_106311550_106354456 | 106354214 | T | TACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG01099.hp2 HG02809.hp1 NA18978.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0090a0001c0001t0001g0244a0003c0003t0001g0192 | 3 | 384 | 0.0078 | 8 | c.*65 others(19): Show |
AIMP1 | ENSG00000164022.18 | transcript | ENST00000672341.1 | protein_coding | 4759 | chr4 | TogoVar | ||||||
AIMP2_chr7_6004272_6028834 | 6018968 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(83): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0008 | a0001c0001t0001g0028a0001c0001t0001g0122a0001c0001t0001g0131others(63): Show | 86 | 442 | 0.1946 | 8 | c.574 others(23): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AIPL1_chr17_6418738_6440121 | 6433586 | A | ATCTCTCT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG03098.hp2 HG03486.hp1 others(2): Show |
a0001a0003 | a0001c0002a0001c0004a0003c0005 | a0001c0002t0003a0001c0004t0002a0001c0004t0010others(1): Show | a0001c0002t0003g0158a0001c0002t0003g0168a0001c0004t0002g0340others(2): Show | 5 | 454 | 0.0110 | 8 | c.276 others(23): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 2/5 | chr17 | TogoVar | ||||||
AIPL1_chr17_6418738_6440121 | 6433611 | T | TCTCTCAC others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG00738.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(4): Show | a0001c0001t0002g0044a0001c0001t0002g0317a0001c0001t0002g0318others(14): Show | 18 | 454 | 0.0397 | 8 | c.276 others(23): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 2/5 | chr17 | TogoVar | ||||||
AIPL1_chr17_6418738_6440121 | 6433611 | T | TCTCTCTC others(1): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01175.hp2 HG02135.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(5): Show | a0001c0001t0002g0040a0001c0001t0002g0217a0001c0001t0002g0272others(10): Show | 14 | 454 | 0.0308 | 8 | c.276 others(23): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 2/5 | chr17 | TogoVar | ||||||
AIP_chr11_67478026_67496103 | 67494818 | G | GCGAGAGG others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00438.hp1 others(77): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0007t0001 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(12): Show | 80 | 342 | 0.2339 | 8 | c.*38 others(19): Show |
AIP | ENSG00000110711.11 | transcript | ENST00000279146.8 | protein_coding | 3716 | chr11 | TogoVar | ||||||
AIRE_chr21_44280876_44303648 | 44299197 | T | TACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG02976.hp1 HG04228.hp1 |
a0002 | a0002c0021a0002c0026a0002c0044 | a0002c0021t0006a0002c0026t0006a0002c0044t0001 | a0002c0021t0006g0037a0002c0026t0006g0037a0002c0044t0001g0087 | 3 | 426 | 0.0070 | 8 | c.*14 others(19): Show |
AIRE | ENSG00000160224.17 | transcript | ENST00000291582.6 | protein_coding | 550 | chr21 | TogoVar | ||||||
AJAP1_chr1_4649609_4797534 | 4679808 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01346.hp2 HG01975.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0164a0001c0001t0170others(11): Show | a0001c0001t0001g0125a0001c0001t0164g0032a0001c0001t0170g0143others(11): Show | 14 | 334 | 0.0419 | 8 | c.29+ others(25): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AJAP1_chr1_4649609_4797534 | 4778571 | A | ATCTCTCT others(1): Show |
intron_variant | MODIFIER | HG02559.hp2 HG03516.hp1 NA18939.hp1 others(1): Show |
a0001 | a0001c0002a0001c0008 | a0001c0002t0001a0001c0002t0090a0001c0002t0160others(1): Show | a0001c0002t0001g0116a0001c0002t0090g0136a0001c0002t0160g0139others(1): Show | 4 | 334 | 0.0120 | 8 | c.*60 others(25): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AJAP1_chr1_4649609_4797534 | 4791048 | G | GCTAAATG others(1): Show |
3_prime_UTR_variant | MODIFIER | HG01243.hp2 HG02145.hp2 HG02897.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0001t0095a0001c0002t0093others(2): Show | a0001c0001t0013g0135a0001c0001t0013g0169a0001c0001t0013g0195others(5): Show | 8 | 334 | 0.0240 | 8 | c.*85 others(19): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 6/6 | 16550 | chr1 | TogoVar | |||||
AK2_chr1_33002986_33041883 | 33020188 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG02071.hp2 HG02132.hp1 HG02155.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0021others(1): Show | a0001c0001t0001g0028a0001c0001t0001g0108a0001c0001t0001g0122others(3): Show | 7 | 350 | 0.0200 | 8 | c.425 others(25): Show |
AK2 | ENSG00000004455.18 | transcript | ENST00000672715.1 | protein_coding | 4/5 | chr1 | TogoVar | ||||||
AK2_chr1_33002986_33041883 | 33034449 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02615.hp2 HG02630.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0004a0004c0004t0004 | a0001c0001t0004g0046a0001c0001t0004g0235a0004c0004t0004g0223 | 4 | 350 | 0.0114 | 8 | c.93+ others(23): Show |
AK2 | ENSG00000004455.18 | transcript | ENST00000672715.1 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
AK3_chr9_4704556_4746202 | 4728854 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01099.hp1 HG02257.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0002g0075a0001c0001t0003g0071a0001c0001t0003g0074others(15): Show | 18 | 462 | 0.0390 | 8 | c.152 others(25): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 1/4 | chr9 | TogoVar | ||||||
AK3_chr9_4704556_4746202 | 4728856 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00738.hp1 HG01081.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0182a0001c0001t0001g0376a0001c0001t0003g0042others(9): Show | 12 | 462 | 0.0260 | 8 | c.152 others(25): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 1/4 | chr9 | TogoVar | ||||||
AK3_chr9_4704556_4746202 | 4728858 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02258.hp2 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0101a0001c0001t0020g0102a0001c0001t0020g0103 | 3 | 462 | 0.0065 | 8 | c.152 others(25): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 1/4 | chr9 | TogoVar |