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 | 58340455 | C | CTTCTTT | downstream_gene_variant | MODIFIER | HG00673.hp2 HG00738.hp2 HG01099.hp2 others(61): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0007 | a0001c0001t0002a0001c0001t0020a0002c0002t0002others(2): Show | a0001c0001t0002g0012a0001c0001t0002g0016a0001c0001t0002g0033others(18): Show | 64 | 386 | 0.1658 | 6 | c.*65 others(17): Show |
A1BG | ENSG00000121410.12 | transcript | ENST00000263100.8 | protein_coding | 4727 | chr19 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8832979 | C | CTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(292): Show |
a0001a0002a0003others(25): Show | a0001c0001a0001c0002a0001c0006others(42): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(57): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(286): Show | 295 | 368 | 0.8016 | 6 | c.463 others(23): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 4/35 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
A2ML1_chr12_8817621_8881787 | 8868457 | C | CGTGTGT | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp1 HG01069.hp1 others(20): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0004a0003c0005others(7): Show | a0001c0001t0001a0001c0001t0003a0002c0004t0003others(8): Show | a0001c0001t0001g0161a0001c0001t0003g0008a0002c0004t0003g0274others(19): Show | 23 | 368 | 0.0625 | 6 | c.406 others(21): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 31/35 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
A2M_chr12_9062708_9120919 | 9094340 | C | CATATAT | intron_variant | MODIFIER | HG00099.hp2 HG00733.hp2 HG02922.hp2 others(14): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0027 | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(1): Show | a0001c0001t0001g0009a0001c0001t0001g0023a0001c0001t0001g0175others(11): Show | 17 | 332 | 0.0512 | 6 | c.212 others(23): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 17/35 | chr12 | TogoVar | ||||||
A2M_chr12_9062708_9120919 | 9097632 | C | CTTTTTT | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01070.hp2 others(44): Show |
a0001a0012a0016 | a0001c0001a0001c0003a0001c0021others(2): Show | a0001c0001t0002a0001c0003t0002a0001c0021t0002others(2): Show | a0001c0001t0002g0002a0001c0001t0002g0012a0001c0001t0002g0013others(35): Show | 47 | 332 | 0.1416 | 6 | c.185 others(23): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 15/35 | chr12 | TogoVar | ||||||
A2M_chr12_9062708_9120919 | 9120852 | C | CATGTGT | upstream_gene_variant | MODIFIER | HG02056.hp1 HG02145.hp2 NA19030.hp2 |
a0001a0015 | a0001c0001a0001c0009a0015c0020 | a0001c0001t0002a0001c0009t0002a0015c0020t0002 | a0001c0001t0002g0051a0001c0009t0002g0083a0015c0020t0002g0080 | 3 | 332 | 0.0090 | 6 | c.-50 others(17): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 4934 | chr12 | TogoVar | ||||||
A3GALT2_chr1_33301766_33326098 | 33313175 | G | GTTTTTT | intron_variant | MODIFIER | HG00621.hp2 HG01106.hp1 HG01175.hp1 others(11): Show |
a0001a0009 | a0001c0001a0009c0013 | a0001c0001t0000a0009c0013t0000 | a0001c0001t0000g0008a0001c0001t0000g0010a0001c0001t0000g0167others(4): Show | 14 | 418 | 0.0335 | 6 | c.24- others(19): Show |
A3GALT2 | ENSG00000184389.9 | transcript | ENST00000442999.3 | protein_coding | 1/4 | chr1 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42703106 | C | CTGTGTG | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(155): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0012others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(13): Show | a0001c0001t0002g0003a0001c0001t0002g0007a0001c0001t0002g0102others(152): Show | 158 | 406 | 0.3892 | 6 | c.-18 others(25): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42703259 | G | GTTTTTT | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02451.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0018a0001c0001t0024others(1): Show | a0001c0001t0004g0246a0001c0001t0004g0299a0001c0001t0004g0393others(6): Show | 10 | 406 | 0.0246 | 6 | c.-18 others(25): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42714274 | C | CAAAAAA | intron_variant | MODIFIER | HG00621.hp1 HG01099.hp1 HG01346.hp2 others(18): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0004a0001c0001t0007a0001c0001t0018others(5): Show | a0001c0001t0004g0393a0001c0001t0007g0017a0001c0001t0007g0059others(18): Show | 21 | 406 | 0.0517 | 6 | c.-18 others(25): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42724546 | T | TTTATTA | upstream_gene_variant | MODIFIER | HG00639.hp1 HG02109.hp2 HG02486.hp1 others(7): Show |
a0001a0002a0005 | a0001c0002a0002c0003a0005c0006 | a0001c0002t0009a0002c0003t0001a0005c0006t0001 | a0001c0002t0009g0242a0002c0003t0001g0240a0002c0003t0001g0241others(6): Show | 10 | 406 | 0.0246 | 6 | c.-39 others(17): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 3677 | chr22 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53318223 | A | AGTGTGT | intron_variant | MODIFIER | HG01433.hp1 HG02735.hp1 HG02895.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0110a0001c0001t0001g0166a0001c0002t0001g0062 | 3 | 330 | 0.0091 | 6 | c.251 others(23): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53318247 | T | TGTGTGC | intron_variant | MODIFIER | HG00544.hp2 HG00642.hp2 HG00741.hp1 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0018a0001c0001t0001g0040a0001c0001t0001g0126others(5): Show | 12 | 330 | 0.0364 | 6 | c.251 others(23): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125062430 | G | GAAAAAC | upstream_gene_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02109.hp2 others(8): Show |
a0002 | a0002c0005a0002c0007a0002c0010others(1): Show | a0002c0005t0001a0002c0007t0001a0002c0010t0001others(1): Show | a0002c0005t0001g0015a0002c0005t0001g0019a0002c0005t0001g0020others(8): Show | 11 | 364 | 0.0302 | 6 | c.-31 others(17): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3004 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125062916 | C | CGTGTGT | upstream_gene_variant | MODIFIER | HG00639.hp2 HG00733.hp2 HG02572.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0093a0001c0001t0001g0159a0002c0002t0001g0011 | 3 | 364 | 0.0082 | 6 | c.-26 others(17): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 2518 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125103987 | C | CAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00621.hp1 HG00621.hp2 others(23): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0001c0003t0009others(4): Show | a0001c0001t0001g0061a0001c0001t0001g0090a0001c0001t0001g0284others(23): Show | 26 | 364 | 0.0714 | 6 | c.767 others(21): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AADACL2_chr3_151728927_151766339 | 151761204 | G | GATATAT | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG00673.hp1 others(33): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0006 | a0001c0001t0005a0001c0001t0018a0001c0001t0022others(6): Show | a0001c0001t0005g0004a0001c0001t0005g0031a0001c0001t0005g0073others(19): Show | 36 | 428 | 0.0841 | 6 | c.*36 others(17): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 5/5 | 3649 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
AADACL2_chr3_151728927_151766339 | 151765804 | G | GATTAAA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00544.hp2 others(117): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0017others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0018others(52): Show | 120 | 428 | 0.2804 | 6 | c.*82 others(17): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 4466 | chr3 | TogoVar | ||||||
AADAC_chr3_151809116_151833488 | 151831382 | T | TACACAC | downstream_gene_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00621.hp1 others(21): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0091a0002c0002t0001g0001a0002c0002t0001g0008others(5): Show | 24 | 440 | 0.0546 | 6 | c.*32 others(17): Show |
AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 2895 | chr3 | TogoVar | ||||||
AADAC_chr3_151809116_151833488 | 151831382 | T | TATACAC | downstream_gene_variant | MODIFIER | HG00735.hp1 HG02258.hp1 HG02280.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0005a0001c0001t0002g0009a0001c0001t0002g0012others(5): Show | 12 | 440 | 0.0273 | 6 | c.*32 others(17): Show |
AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 2895 | chr3 | TogoVar | ||||||
AADAT_chr4_170055222_170094956 | 170056435 | A | AAAAAAT | downstream_gene_variant | MODIFIER | HG02135.hp2 HG02257.hp1 HG02280.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0009a0001c0001t0001g0083others(4): Show | 11 | 378 | 0.0291 | 6 | c.*44 others(17): Show |
AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 3786 | chr4 | TogoVar | ||||||
AADAT_chr4_170055222_170094956 | 170056435 | A | AAAATAT | downstream_gene_variant | MODIFIER | HG01168.hp1 HG01496.hp2 HG02129.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0009a0001c0001t0001g0028others(5): Show | 9 | 378 | 0.0238 | 6 | c.*44 others(17): Show |
AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 3786 | chr4 | TogoVar | ||||||
AADAT_chr4_170055222_170094956 | 170056435 | A | AATATAT | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00733.hp2 HG01496.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0027others(2): Show | 7 | 378 | 0.0185 | 6 | c.*44 others(17): Show |
AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 3786 | chr4 | TogoVar | ||||||
AAGAB_chr15_67195667_67259661 | 67196494 | G | GCTGACC | downstream_gene_variant | MODIFIER | HG00741.hp1 HG01515.hp1 HG02698.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036a0001c0001t0002g0045a0001c0001t0002g0046others(1): Show | 4 | 380 | 0.0105 | 6 | c.*63 others(17): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 4172 | chr15 | TogoVar | ||||||
AAGAB_chr15_67195667_67259661 | 67197084 | A | ATCCTTC | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(233): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0005others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(12): Show | a0001c0001t0002g0003a0001c0001t0002g0029a0001c0001t0002g0030others(227): Show | 236 | 380 | 0.6211 | 6 | c.*57 others(17): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 3582 | chr15 | TogoVar | ||||||
AAGAB_chr15_67195667_67259661 | 67222230 | A | ACGCGCG | intron_variant | MODIFIER | HG00621.hp2 HG04115.hp2 NA18989.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0002 | a0001c0001t0004g0245a0001c0001t0004g0280a0002c0002t0002g0115others(1): Show | 4 | 380 | 0.0105 | 6 | c.535 others(23): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | chr15 | TogoVar | ||||||
AAGAB_chr15_67195667_67259661 | 67222242 | G | GCGCACA | intron_variant | MODIFIER | HG01169.hp2 HG02109.hp2 HG02145.hp1 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0008a0002c0002t0002others(1): Show | a0001c0001t0002g0044a0001c0001t0002g0063a0001c0001t0002g0069others(14): Show | 17 | 380 | 0.0447 | 6 | c.535 others(23): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | chr15 | TogoVar | ||||||
AAGAB_chr15_67195667_67259661 | 67222242 | G | GCGCGCA | intron_variant | MODIFIER | HG00280.hp1 HG01256.hp2 HG01516.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002a0002c0002t0014 | a0001c0001t0002g0032a0002c0002t0002g0087a0002c0002t0002g0109others(1): Show | 4 | 380 | 0.0105 | 6 | c.535 others(23): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | chr15 | TogoVar | ||||||
AAGAB_chr15_67195667_67259661 | 67241040 | T | TACACAC | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(59): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(48): Show | 62 | 380 | 0.1632 | 6 | c.74- others(21): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 1/9 | chr15 | TogoVar | ||||||
AAGAB_chr15_67195667_67259661 | 67251236 | C | CTGTGTG | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00558.hp1 others(90): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0020a0002c0002t0001a0002c0002t0003others(2): Show | a0001c0001t0020g0023a0002c0002t0001g0151a0002c0002t0003g0007others(89): Show | 93 | 380 | 0.2447 | 6 | c.73+ others(21): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 1/9 | chr15 | TogoVar | ||||||
AAGAB_chr15_67195667_67259661 | 67252184 | T | TACTTCA | intron_variant | MODIFIER | NA18747.hp1 NA18991.hp2 NA19077.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0232a0001c0001t0005g0233a0001c0001t0005g0234others(1): Show | 4 | 380 | 0.0105 | 6 | c.73+ others(21): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 1/9 | chr15 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69464194 | A | AAACAAC | 3_prime_UTR_variant | MODIFIER | HG01243.hp1 HG02074.hp2 HG02451.hp1 others(21): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0014a0001c0001t0083a0001c0001t0137others(13): Show | a0001c0001t0014g0059a0001c0001t0014g0060a0001c0001t0014g0066others(21): Show | 24 | 298 | 0.0805 | 6 | c.*11 others(19): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | 11674 | chr2 | TogoVar | |||||
AAK1_chr2_69452997_69648739 | 69488149 | C | CGTGTGT | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(74): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0024others(4): Show | a0001c0001t0144a0002c0002t0001a0002c0002t0003others(37): Show | a0001c0001t0144g0232a0002c0002t0001g0025a0002c0002t0001g0028others(74): Show | 77 | 298 | 0.2584 | 6 | c.236 others(25): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69492518 | C | CTTTTTT | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02280.hp1 others(7): Show |
a0001a0002a0004 | a0001c0001a0001c0006a0001c0009others(3): Show | a0001c0001t0037a0001c0001t0045a0001c0001t0077others(7): Show | a0001c0001t0037g0009a0001c0001t0045g0287a0001c0001t0077g0072others(7): Show | 10 | 298 | 0.0336 | 6 | c.236 others(25): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69500664 | A | AATATAT | intron_variant | MODIFIER | HG02056.hp1 HG02148.hp1 HG02165.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0008a0001c0001t0009a0001c0001t0032others(3): Show | a0001c0001t0008g0069a0001c0001t0009g0124a0001c0001t0032g0175others(3): Show | 6 | 298 | 0.0201 | 6 | c.227 others(25): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69500696 | T | TACACAC | intron_variant | MODIFIER | HG01167.hp1 HG02280.hp2 NA19030.hp1 |
a0001 | a0001c0001a0001c0003a0001c0009 | a0001c0001t0078a0001c0003t0022a0001c0009t0125 | a0001c0001t0078g0055a0001c0003t0022g0010a0001c0009t0125g0179 | 3 | 298 | 0.0101 | 6 | c.227 others(25): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69500698 | T | TACACAC | intron_variant | MODIFIER | NA18969.hp2 NA18980.hp2 NA20129.hp2 |
a0001 | a0001c0003 | a0001c0003t0012a0001c0003t0030a0001c0003t0064 | a0001c0003t0012g0097a0001c0003t0030g0169a0001c0003t0064g0085 | 3 | 298 | 0.0101 | 6 | c.227 others(25): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69500698 | T | TATACAC | intron_variant | MODIFIER | HG00323.hp1 HG01106.hp1 HG01981.hp1 others(9): Show |
a0001a0005 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0105a0001c0003t0012a0001c0003t0026others(6): Show | a0001c0001t0105g0108a0001c0003t0012g0091a0001c0003t0012g0095others(9): Show | 12 | 298 | 0.0403 | 6 | c.227 others(25): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69500698 | T | TATATAC | intron_variant | MODIFIER | HG01074.hp2 HG02040.hp2 HG02132.hp2 others(2): Show |
a0001a0007 | a0001c0001a0001c0004a0001c0008others(1): Show | a0001c0001t0073a0001c0004t0072a0001c0008t0097others(2): Show | a0001c0001t0073g0052a0001c0004t0072g0093a0001c0008t0097g0131others(2): Show | 5 | 298 | 0.0168 | 6 | c.227 others(25): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69506868 | C | CTGTGTG | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00558.hp1 others(106): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(64): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(106): Show | 109 | 298 | 0.3658 | 6 | c.216 others(23): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 15/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69640014 | A | AACACAC | intron_variant | MODIFIER | HG00544.hp1 HG01358.hp2 HG01361.hp2 others(26): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(10): Show | a0001c0001t0004g0216a0001c0001t0004g0221a0001c0001t0006g0213others(26): Show | 29 | 298 | 0.0973 | 6 | c.163 others(23): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69640053 | A | ACACTCT | intron_variant | MODIFIER | HG01884.hp1 HG02280.hp1 HG02970.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0104a0001c0001t0120others(1): Show | a0001c0001t0002g0114a0001c0001t0104g0292a0001c0001t0120g0187others(1): Show | 4 | 298 | 0.0134 | 6 | c.163 others(23): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69640053 | A | ACTCTCT | intron_variant | MODIFIER | HG02109.hp1 HG02572.hp2 HG02717.hp2 |
a0001a0004 | a0001c0001a0004c0013 | a0001c0001t0045a0001c0001t0063a0004c0013t0043 | a0001c0001t0045g0287a0001c0001t0063g0288a0004c0013t0043g0284 | 3 | 298 | 0.0101 | 6 | c.163 others(23): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77852224 | C | CAAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00423.hp2 others(96): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0001c0002t0002a0002c0003t0001 | a0001c0002t0001g0009a0001c0002t0001g0010a0001c0002t0001g0011others(93): Show | 99 | 382 | 0.2592 | 6 | c.132 others(23): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AANAT_chr17_76462603_76475117 | 76463309 | C | CTTTTTT | upstream_gene_variant | MODIFIER | HG00597.hp2 HG01074.hp1 HG01175.hp2 others(21): Show |
a0001a0008 | a0001c0001a0008c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0002g0005others(2): Show | 24 | 426 | 0.0563 | 6 | c.-44 others(17): Show |
AANAT | ENSG00000129673.10 | transcript | ENST00000392492.8 | protein_coding | 4293 | chr17 | TogoVar | ||||||
AAR2_chr20_36231478_36261933 | 36232816 | C | CCTCTCT | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00609.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0009a0001c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0007others(13): Show | 17 | 298 | 0.0571 | 6 | c.-37 others(17): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 3661 | chr20 | TogoVar | ||||||
AAR2_chr20_36231478_36261933 | 36237750 | G | GTATTAT | intron_variant | MODIFIER | HG00558.hp1 HG01516.hp1 HG01517.hp2 others(32): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0003a0001c0001t0001g0015a0001c0001t0001g0016others(21): Show | 35 | 298 | 0.1175 | 6 | c.-49 others(23): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
AAR2_chr20_36231478_36261933 | 36242364 | T | TTTGTTG | intron_variant | MODIFIER | HG01884.hp2 HG03017.hp2 NA18948.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045a0001c0001t0001g0055a0001c0001t0001g0110others(1): Show | 4 | 298 | 0.0134 | 6 | c.757 others(23): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
AAR2_chr20_36231478_36261933 | 36258142 | T | TACACAC | downstream_gene_variant | MODIFIER | HG00639.hp2 HG00738.hp2 HG01167.hp1 others(46): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(31): Show | 49 | 298 | 0.1644 | 6 | c.*23 others(17): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 1210 | chr20 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70255193 | C | CTTTTTT | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp2 HG02886.hp2 others(3): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0339others(3): Show | 6 | 362 | 0.0166 | 6 | c.228 others(23): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 16/20 | chr16 | TogoVar |