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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A1BG_chr19_58340183_58358492 | 58358149 | GTCCCC | G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00597.hp1 others(121): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0002a0005c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(29): Show | 124 | 386 | 0.3212 | -5 | c.-47 others(16): Show |
A1BG | ENSG00000121410.12 | transcript | ENST00000263100.8 | protein_coding | 4658 | chr19 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8866304 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00423.hp2 others(105): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0002a0001c0006others(25): Show | a0001c0001t0002a0001c0002t0002a0001c0006t0002others(36): Show | a0001c0001t0002g0175a0001c0002t0002g0048a0001c0006t0002g0231others(103): Show | 108 | 368 | 0.2935 | -5 | c.371 others(24): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 29/35 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
A2M_chr12_9062708_9120919 | 9074087 | TAAAAA | T | intron_variant | MODIFIER | HG02280.hp1 HG02486.hp2 HG02922.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0022others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0002others(2): Show | a0001c0001t0001g0249a0001c0001t0002g0005a0001c0001t0002g0088others(8): Show | 13 | 332 | 0.0392 | -5 | c.375 others(22): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 29/35 | chr12 | TogoVar | ||||||
A2M_chr12_9062708_9120919 | 9093580 | CTATGG | C | splice_acceptor_variant others(2): Show |
HIGH | HG00639.hp1 HG00738.hp1 HG01070.hp2 others(47): Show |
a0001a0012a0016 | a0001c0001a0001c0003a0001c0021others(2): Show | a0001c0001t0002a0001c0003t0002a0001c0021t0002others(2): Show | a0001c0001t0002g0002a0001c0001t0002g0012a0001c0001t0002g0013others(38): Show | 50 | 332 | 0.1506 | -5 | c.212 others(18): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 17/35 | chr12 | TogoVar | ||||||
A2M_chr12_9062708_9120919 | 9108099 | GTTTAT | G | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp2 others(23): Show |
a0001a0007 | a0001c0001a0001c0011a0007c0027 | a0001c0001t0001a0001c0011t0001a0007c0027t0001 | a0001c0001t0001g0011a0001c0001t0001g0034a0001c0001t0001g0035others(18): Show | 26 | 332 | 0.0783 | -5 | c.759 others(20): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 7/35 | chr12 | TogoVar | ||||||
A3GALT2_chr1_33301766_33326098 | 33308750 | GTTTTT | G | intron_variant | MODIFIER | HG02080.hp1 NA18956.hp2 NA19055.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0059a0001c0001t0000g0120a0001c0001t0000g0126others(3): Show | 6 | 418 | 0.0144 | -5 | c.336 others(22): Show |
A3GALT2 | ENSG00000184389.9 | transcript | ENST00000442999.3 | protein_coding | 4/4 | chr1 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42721721 | CCCCCA | C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00423.hp2 others(71): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0007a0001c0001t0016a0001c0001t0020others(6): Show | a0001c0001t0007g0017a0001c0001t0007g0027a0001c0001t0007g0033others(70): Show | 74 | 406 | 0.1823 | -5 | c.-11 others(16): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 852 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42722157 | CAAAAA | C | upstream_gene_variant | MODIFIER | HG00738.hp2 HG01496.hp1 HG01952.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0007a0001c0002t0003a0001c0009t0013others(1): Show | a0001c0001t0007g0050a0001c0002t0003g0032a0001c0002t0003g0049others(12): Show | 15 | 406 | 0.0370 | -5 | c.-15 others(16): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1288 | chr22 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53304861 | GTTTTT | G | downstream_gene_variant | MODIFIER | HG00140.hp2 HG01123.hp1 HG01255.hp2 others(13): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0001a0001c0003t0001a0001c0006t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(10): Show | 16 | 330 | 0.0485 | -5 | c.*26 others(16): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2598 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53326128 | ATTTTG | A | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02886.hp2 HG03195.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041a0001c0001t0001g0135a0001c0001t0001g0136 | 4 | 330 | 0.0121 | -5 | c.-46 others(16): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 4519 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125141706 | AAAAAG | A | intron_variant | MODIFIER | HG01243.hp1 HG01361.hp1 HG01884.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0010a0001c0001t0001g0097a0001c0001t0001g0162others(13): Show | 16 | 364 | 0.0440 | -5 | c.188 others(22): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AADACL4_chr1_12639085_12672076 | 12643448 | CTTTTT | C | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02572.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0002t0004others(2): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0044others(13): Show | 16 | 310 | 0.0516 | -5 | c.-10 others(16): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 636 | chr1 | TogoVar | ||||||
AADAT_chr4_170055222_170094956 | 170072253 | AGATAC | A | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp2 HG01255.hp2 others(52): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0022others(25): Show | 55 | 378 | 0.1455 | -5 | c.654 others(20): Show |
AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 5/12 | chr4 | TogoVar | ||||||
AAGAB_chr15_67195667_67259661 | 67214195 | CTCTTT | C | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(107): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0020a0002c0002t0001a0002c0002t0003others(2): Show | a0001c0001t0020g0023a0002c0002t0001g0151a0002c0002t0003g0007others(105): Show | 110 | 380 | 0.2895 | -5 | c.536 others(22): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | chr15 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69460340 | ATATAT | A | 3_prime_UTR_variant | MODIFIER | HG02451.hp2 HG02559.hp2 HG02622.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0073a0001c0001t0099a0002c0005t0018others(1): Show | a0001c0001t0073g0052a0001c0001t0099g0161a0002c0005t0018g0064others(3): Show | 6 | 298 | 0.0201 | -5 | c.*15 others(18): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | 15524 | chr2 | TogoVar | |||||
AAK1_chr2_69452997_69648739 | 69524412 | TTTTTG | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(206): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(17): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(117): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(206): Show | 209 | 298 | 0.7013 | -5 | c.105 others(22): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 10/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69607046 | CAAAAA | C | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG00735.hp2 others(62): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(34): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(62): Show | 65 | 298 | 0.2181 | -5 | c.163 others(24): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77829201 | TTCACA | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(162): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0004 | a0001c0002t0001a0001c0002t0002a0002c0003t0001others(1): Show | a0001c0002t0001g0009a0001c0002t0001g0010a0001c0002t0001g0011others(158): Show | 165 | 382 | 0.4319 | -5 | c.-19 others(22): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AARS1_chr16_70247298_70294506 | 70279670 | CAAAAA | C | intron_variant | MODIFIER | HG00639.hp2 HG01106.hp1 HG01109.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0164a0001c0001t0002g0167a0001c0001t0002g0179others(11): Show | 14 | 362 | 0.0387 | -5 | c.145 others(22): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 2/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70293084 | AAAATT | A | upstream_gene_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(22): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0338others(22): Show | 25 | 362 | 0.0691 | -5 | c.-36 others(16): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 3579 | chr16 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42956660 | CTTTTT | C | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02257.hp2 others(13): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0008a0001c0002t0001g0023a0001c0002t0001g0024others(4): Show | 16 | 324 | 0.0494 | -5 | c.390 others(20): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 4/11 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42967411 | ATATAT | A | upstream_gene_variant | MODIFIER | HG02615.hp1 NA18522.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0072 | 3 | 324 | 0.0093 | -5 | c.-29 others(16): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2958 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42967412 | TATATA | T | upstream_gene_variant | MODIFIER | HG02683.hp1 NA18951.hp1 NA18951.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0009a0001c0001t0001g0059others(1): Show | 5 | 324 | 0.0154 | -5 | c.-29 others(16): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2959 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42967452 | TATATA | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(123): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0008a0001c0010others(3): Show | a0001c0001t0001a0001c0008t0001a0001c0010t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(55): Show | 126 | 324 | 0.3889 | -5 | c.-30 others(16): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2999 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42967463 | TGTATC | T | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00597.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(17): Show | 29 | 324 | 0.0895 | -5 | c.-30 others(16): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 3010 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42967489 | ATATTT | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(129): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0008a0001c0010others(3): Show | a0001c0001t0001a0001c0008t0001a0001c0010t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(57): Show | 132 | 324 | 0.4074 | -5 | c.-30 others(16): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 3036 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42969401 | CTTTTT | C | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG02896.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0007others(2): Show | 6 | 324 | 0.0185 | -5 | c.-49 others(16): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 4948 | chr17 | TogoVar | ||||||
AASDHPPT_chr11_106072662_106103695 | 106083854 | ATTCTT | A | intron_variant | MODIFIER | HG01109.hp2 HG02622.hp1 HG03225.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0094a0001c0001t0002g0095a0001c0001t0002g0096others(1): Show | 4 | 404 | 0.0099 | -5 | c.409 others(22): Show |
AASDHPPT | ENSG00000149313.11 | transcript | ENST00000278618.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AASDHPPT_chr11_106072662_106103695 | 106085475 | TTAAAA | T | intron_variant | MODIFIER | HG00140.hp2 HG00673.hp2 HG00738.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0001g0008a0001c0001t0001g0016a0001c0001t0001g0069others(5): Show | 24 | 404 | 0.0594 | -5 | c.410 others(22): Show |
AASDHPPT | ENSG00000149313.11 | transcript | ENST00000278618.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AASDHPPT_chr11_106072662_106103695 | 106098523 | GTTTTT | G | 3_prime_UTR_variant | MODIFIER | HG00733.hp1 HG00735.hp2 HG01069.hp1 others(30): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0004a0001c0001t0006a0001c0001t0013others(1): Show | a0001c0001t0004g0004a0001c0001t0004g0070a0001c0001t0004g0071others(9): Show | 33 | 404 | 0.0817 | -5 | c.*16 others(16): Show |
AASDHPPT | ENSG00000149313.11 | transcript | ENST00000278618.9 | protein_coding | 6/6 | 1624 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||
AASDHPPT_chr11_106072662_106103695 | 106099722 | TATAAC | T | downstream_gene_variant | MODIFIER | HG00738.hp2 HG01099.hp1 HG02895.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 7 | 404 | 0.0173 | -5 | c.*28 others(16): Show |
AASDHPPT | ENSG00000149313.11 | transcript | ENST00000278618.9 | protein_coding | 1028 | chr11 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 36947646 | TTCCCC | T | upstream_gene_variant | MODIFIER | HG01192.hp2 HG01891.hp1 HG02258.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0022a0001c0001t0001g0023others(12): Show | 15 | 245 | 0.0612 | -5 | c.-14 others(16): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 1307 | chr17 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 36968266 | CTTTCT | C | intron_variant | MODIFIER | HG02109.hp1 HG02723.hp1 HG02965.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0003t0001a0002c0004t0001 | a0001c0001t0001g0030a0001c0003t0001g0034a0001c0003t0001g0035others(3): Show | 6 | 245 | 0.0245 | -5 | c.832 others(24): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AATF_chr17_36943954_37061871 | 37001451 | GGAAGA | G | intron_variant | MODIFIER | HG01884.hp1 HG02922.hp2 HG02965.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0021a0001c0001t0001g0073others(1): Show | 4 | 245 | 0.0163 | -5 | c.139 others(26): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | chr17 | TogoVar | ||||||
AATK_chr17_81112295_81171221 | 81154078 | AAAAAC | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(91): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0004a0001c0060others(17): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0002others(21): Show | a0001c0001t0001g0030a0001c0001t0001g0034a0001c0001t0001g0076others(87): Show | 94 | 368 | 0.2554 | -5 | c.55+ others(22): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
AATK_chr17_81112295_81171221 | 81154315 | CTTTCT | C | intron_variant | MODIFIER | HG01167.hp2 HG01168.hp2 HG01169.hp1 others(4): Show |
a0001a0006a0009others(1): Show | a0001c0004a0006c0042a0006c0056others(2): Show | a0001c0004t0002a0006c0042t0011a0006c0056t0011others(2): Show | a0001c0004t0002g0012a0006c0042t0011g0335a0006c0056t0011g0332others(3): Show | 7 | 368 | 0.0190 | -5 | c.55+ others(22): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8689506 | GAATTC | G | intron_variant | MODIFIER | HG02451.hp2 HG02896.hp2 HG02897.hp1 others(1): Show |
a0002 | a0002c0008 | a0002c0008t0002a0002c0008t0003 | a0002c0008t0002g0012a0002c0008t0002g0013a0002c0008t0002g0014others(1): Show | 4 | 362 | 0.0111 | -5 | c.-42 others(24): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8699796 | CCTCTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00733.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0003t0002a0002c0002t0001others(5): Show | a0001c0001t0001g0058a0001c0003t0002g0177a0002c0002t0001g0021others(7): Show | 10 | 362 | 0.0276 | -5 | c.-42 others(24): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8716983 | ATATCT | A | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02486.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0010 | a0001c0001t0001a0001c0001t0011a0002c0002t0003others(3): Show | a0001c0001t0001g0239a0001c0001t0011g0238a0002c0002t0003g0241others(3): Show | 6 | 362 | 0.0166 | -5 | c.-41 others(24): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8723827 | ATTTTT | A | intron_variant | MODIFIER | HG00621.hp2 HG00673.hp1 HG00741.hp1 others(36): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0076a0001c0001t0001g0125a0001c0001t0001g0156others(36): Show | 39 | 362 | 0.1077 | -5 | c.-41 others(24): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8738008 | GAAAGA | G | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp2 HG00621.hp2 others(54): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(5): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(22): Show | a0001c0001t0002g0034a0001c0001t0002g0296a0001c0001t0002g0352others(54): Show | 57 | 362 | 0.1575 | -5 | c.70+ others(20): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8739762 | AAACAG | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp2 others(174): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0001c0011others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(56): Show | a0001c0001t0001g0024a0001c0001t0001g0038a0001c0001t0001g0058others(174): Show | 177 | 362 | 0.4890 | -5 | c.70+ others(20): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8743539 | TTATAA | T | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp2 HG02630.hp1 others(6): Show |
a0002 | a0002c0002a0002c0004a0002c0017others(1): Show | a0002c0002t0005a0002c0002t0006a0002c0002t0019others(5): Show | a0002c0002t0005g0243a0002c0002t0006g0169a0002c0002t0006g0244others(6): Show | 9 | 362 | 0.0249 | -5 | c.71- others(20): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8743598 | TATATA | T | intron_variant | MODIFIER | HG02280.hp2 HG03540.hp2 NA19030.hp2 others(1): Show |
a0002 | a0002c0002a0002c0009 | a0002c0002t0003a0002c0002t0010a0002c0009t0002 | a0002c0002t0003g0269a0002c0002t0010g0308a0002c0009t0002g0316others(1): Show | 4 | 362 | 0.0111 | -5 | c.71- others(20): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8787685 | GTTTTC | G | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp2 others(71): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0023others(7): Show | a0001c0001t0003a0001c0001t0022a0001c0001t0023others(10): Show | a0001c0001t0003g0029a0001c0001t0003g0039a0001c0001t0003g0071others(71): Show | 74 | 362 | 0.2044 | -5 | c.*62 others(16): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 3116 | chr16 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69146689 | GATATA | G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(7): Show |
a0003a0026 | a0003c0003a0003c0025a0026c0019 | a0003c0003t0001a0003c0025t0001a0026c0019t0001 | a0003c0003t0001g0056a0003c0003t0001g0071a0003c0003t0001g0118others(7): Show | 10 | 348 | 0.0287 | -5 | c.*21 others(16): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 1317 | chr17 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69167890 | TGTAAA | T | intron_variant | MODIFIER | HG00639.hp1 HG01109.hp2 HG01361.hp2 others(5): Show |
a0006 | a0006c0007a0006c0016 | a0006c0007t0004a0006c0016t0004 | a0006c0007t0004g0185a0006c0007t0004g0187a0006c0007t0004g0188others(5): Show | 8 | 348 | 0.0230 | -5 | c.316 others(24): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 25/38 | chr17 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69208417 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(155): Show |
a0002a0003a0005others(6): Show | a0002c0002a0002c0015a0003c0003others(10): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(15): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(153): Show | 158 | 348 | 0.4540 | -5 | c.100 others(24): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69209324 | GAATTC | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(138): Show |
a0002a0003a0015others(5): Show | a0002c0002a0002c0015a0003c0003others(7): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(10): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(136): Show | 141 | 348 | 0.4052 | -5 | c.100 others(24): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69228474 | AATAAT | A | intron_variant | MODIFIER | HG02723.hp2 HG02896.hp2 HG03041.hp2 |
a0006 | a0006c0007 | a0006c0007t0010 | a0006c0007t0010g0339a0006c0007t0010g0340a0006c0007t0010g0341 | 3 | 348 | 0.0086 | -5 | c.-31 others(22): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 1/38 | chr17 | TogoVar |