view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0007 | a0001c0001t0002a0001c0001t0020a0002c0002t0002others(2): Show | a0001c0001t0002g0008 a0001c0001t0002g0015 a0001c0001t0002g0030 others(16): Show |
64 | 376 | 0.1702 | 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(291): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0002a0001c0003others(34): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(45): Show | a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0046 others(284): Show |
294 | 318 | 0.9245 | 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(3): Show | a0001c0001a0002c0004a0002c0007others(6): Show | a0001c0001t0001a0001c0001t0003a0002c0004t0003others(7): Show | a0001c0001t0001g0158 a0001c0001t0003g0008 a0001c0001t0003g0273 others(18): Show |
23 | 119 | 0.1933 | 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 |
a0001a0002a0012 | a0001c0001a0002c0002a0012c0027 | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(1): Show | a0001c0001t0001g0009 a0001c0001t0001g0023 a0001c0001t0001g0175 others(11): Show |
17 | 102 | 0.1667 | 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 |
a0001a0013a0014 | a0001c0001a0001c0003a0001c0021others(2): Show | a0001c0001t0002a0001c0003t0002a0001c0021t0002others(2): Show | a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0013 others(35): Show |
47 | 208 | 0.2260 | 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 | a0001c0001t0002g0051 a0001c0009t0002g0083 a0015c0020t0002g0080 |
3 | 81 | 0.0370 | 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 |
a0001a0011 | a0001c0001a0011c0013 | a0001c0001t0001a0011c0013t0001 | a0001c0001t0001g0005 a0001c0001t0001g0133 a0001c0001t0001g0134 others(3): Show |
14 | 66 | 0.2121 | 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 | a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0009 others(151): Show |
158 | 169 | 0.9349 | 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 | a0001c0001t0004g0234 a0001c0001t0004g0298 a0001c0001t0004g0392 others(6): Show |
10 | 218 | 0.0459 | 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 | a0001c0001t0004g0392 a0001c0001t0007g0020 a0001c0001t0007g0062 others(18): Show |
21 | 144 | 0.1458 | 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 | a0001c0002t0009g0255 a0002c0003t0001g0253 a0002c0003t0001g0254 others(6): Show |
10 | 305 | 0.0328 | 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 | a0001c0001t0001g0099 a0001c0001t0001g0158 a0001c0002t0001g0070 |
3 | 168 | 0.0179 | 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 | a0001c0001t0001g0020 a0001c0001t0001g0043 a0001c0001t0001g0066 others(5): Show |
12 | 269 | 0.0446 | 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 | a0002c0005t0001g0001 a0002c0005t0001g0017 a0002c0005t0001g0021 others(7): Show |
11 | 362 | 0.0304 | 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 | a0001c0001t0001g0093 a0001c0001t0001g0159 a0002c0002t0001g0013 |
3 | 68 | 0.0441 | 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 | a0001c0001t0001g0052 a0001c0001t0001g0090 a0001c0001t0001g0282 others(23): Show |
26 | 42 | 0.6190 | 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 |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(5): Show | a0001c0001t0001g0004 a0001c0001t0001g0031 a0001c0001t0001g0101 others(18): Show |
36 | 104 | 0.3462 | 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(116): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0012others(9): Show | a0001c0001t0002g0001 a0001c0001t0002g0015 a0001c0001t0002g0018 others(50): Show |
119 | 426 | 0.2793 | 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 | a0001c0001t0001g0090 a0002c0002t0001g0001 a0002c0002t0001g0008 others(5): Show |
24 | 43 | 0.5581 | 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 | a0001c0001t0001g0005 a0001c0001t0002g0009 a0001c0001t0002g0012 others(5): Show |
12 | 31 | 0.3871 | 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 | a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0082 others(4): Show |
11 | 171 | 0.0643 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0026 others(5): Show |
9 | 169 | 0.0533 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0025 others(2): Show |
7 | 167 | 0.0419 | 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 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0054 a0001c0001t0002g0061 a0001c0001t0002g0067 |
3 | 378 | 0.0079 | 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(232): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0005others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(12): Show | a0001c0001t0002g0007 a0001c0001t0002g0015 a0001c0001t0002g0016 others(193): Show |
235 | 378 | 0.6217 | 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 | a0001c0001t0004g0029 a0001c0001t0004g0243 a0002c0002t0002g0008 others(1): Show |
4 | 334 | 0.0120 | 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 | a0001c0001t0002g0018 a0001c0001t0002g0059 a0001c0001t0002g0077 others(14): Show |
17 | 260 | 0.0654 | 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 | a0001c0001t0002g0051 a0002c0002t0002g0098 a0002c0002t0002g0113 others(1): Show |
4 | 247 | 0.0162 | 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 | a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0013 others(41): Show |
62 | 68 | 0.9118 | 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 | a0001c0001t0020g0043 a0002c0002t0001g0148 a0002c0002t0003g0001 others(71): Show |
93 | 344 | 0.2703 | 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 | a0001c0001t0005g0207 a0001c0001t0005g0208 a0001c0001t0005g0209 others(1): Show |
4 | 378 | 0.0106 | 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 | a0001c0001t0012a0001c0001t0078a0001c0001t0132others(12): Show | a0001c0001t0012g0059 a0001c0001t0012g0073 a0001c0001t0012g0079 others(21): Show |
24 | 231 | 0.1039 | 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(1): Show | a0001c0001a0002c0002a0002c0015others(4): Show | a0001c0001t0139a0002c0002t0002a0002c0002t0003others(37): Show | a0001c0001t0139g0230 a0002c0002t0002g0052 a0002c0002t0003g0022 others(74): Show |
77 | 171 | 0.4503 | 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 | a0001c0001t0033a0001c0001t0041a0001c0001t0073others(7): Show | a0001c0001t0033g0007 a0001c0001t0041g0287 a0001c0001t0073g0070 others(7): Show |
10 | 81 | 0.1235 | 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 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(3): Show | a0001c0001t0001g0121 a0001c0001t0002g0061 a0001c0001t0013g0175 others(3): Show |
6 | 182 | 0.0330 | 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 | a0001c0001t0074a0001c0003t0022a0001c0009t0120 | a0001c0001t0074g0053 a0001c0003t0022g0011 a0001c0009t0120g0179 |
3 | 224 | 0.0134 | 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 | a0001c0003t0008a0001c0003t0030a0001c0003t0060 | a0001c0003t0008g0098 a0001c0003t0030g0169 a0001c0003t0060g0088 |
3 | 98 | 0.0306 | 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 | a0001c0001t0100a0001c0003t0008a0001c0003t0026others(5): Show | a0001c0001t0100g0108 a0001c0003t0008g0090 a0001c0003t0008g0095 others(9): Show |
12 | 107 | 0.1122 | 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 |
a0001a0006 | a0001c0001a0001c0004a0001c0008others(1): Show | a0001c0001t0069a0001c0004t0068a0001c0008t0092others(2): Show | a0001c0001t0069g0055 a0001c0004t0068g0094 a0001c0008t0092g0129 others(2): Show |
5 | 100 | 0.0500 | 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 | a0001c0001t0005a0001c0001t0007a0001c0001t0010others(62): Show | a0001c0001t0005g0197 a0001c0001t0005g0213 a0001c0001t0005g0218 others(106): Show |
109 | 172 | 0.6337 | 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 | a0001c0001t0005a0001c0001t0007a0001c0001t0010others(10): Show | a0001c0001t0005g0213 a0001c0001t0005g0218 a0001c0001t0007g0206 others(26): Show |
29 | 213 | 0.1362 | 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 | a0001c0001t0001a0001c0001t0099a0001c0001t0115others(1): Show | a0001c0001t0001g0125 a0001c0001t0099g0294 a0001c0001t0115g0184 others(1): Show |
4 | 187 | 0.0214 | 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 | a0001c0001t0041a0001c0001t0059a0004c0013t0039 | a0001c0001t0041g0287 a0001c0001t0059g0288 a0004c0013t0039g0284 |
3 | 186 | 0.0161 | 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 | a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 others(92): Show |
99 | 102 | 0.9706 | 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 |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0005 others(2): Show |
24 | 39 | 0.6154 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(13): Show |
17 | 164 | 0.1037 | 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 | a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0016 others(19): Show |
35 | 141 | 0.2482 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0044 a0001c0001t0001g0053 others(1): Show |
4 | 148 | 0.0270 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(29): Show |
49 | 82 | 0.5976 | 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 | a0002c0004t0001g0333 a0002c0004t0001g0335 a0002c0004t0001g0338 others(3): Show |
6 | 357 | 0.0168 | 6 | c.228 others(23): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 16/20 | chr16 | TogoVar |