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 | CTTCTTT | C | downstream_gene_variant | MODIFIER | HG01934.hp1 HG01952.hp1 HG01975.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0001 a0001c0001t0001g0060 a0001c0001t0011g0067 |
8 | 320 | 0.0250 | -6 | c.*65 others(17): Show |
A1BG | ENSG00000121410.12 | transcript | ENST00000263100.8 | protein_coding | 4727 | chr19 | TogoVar | |||||||
A1CF_chr10_50794409_50890627 | 50802678 | CTTAGTG | C | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(112): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0020others(15): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0012 others(93): Show |
115 | 336 | 0.3423 | -6 | c.*40 others(17): Show |
A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 13/13 | 4045 | chr10 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8825732 | ATTAGAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00639.hp2 others(40): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(13): Show | a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0097 others(37): Show |
43 | 366 | 0.1175 | -6 | c.409 others(23): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 3/35 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8866304 | CAAAAAA | C | intron_variant | MODIFIER | HG01069.hp1 HG03688.hp1 HG04204.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0003t0002others(1): Show | a0001c0001t0001g0327 a0001c0001t0003g0273 a0001c0001t0003g0278 others(3): Show |
6 | 8 | 0.7500 | -6 | c.371 others(25): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 29/35 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
A2M_chr12_9062708_9120919 | 9094340 | CATATAT | C | intron_variant | MODIFIER | HG00738.hp1 HG02129.hp1 HG02683.hp1 others(4): Show |
a0001a0015 | a0001c0001a0015c0020 | a0001c0001t0001a0001c0001t0002a0015c0020t0002 | a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0220 others(4): Show |
7 | 92 | 0.0761 | -6 | c.212 others(23): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 17/35 | chr12 | TogoVar | |||||||
A3GALT2_chr1_33301766_33326098 | 33308750 | GTTTTTT | G | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp1 HG02027.hp1 others(34): Show |
a0001a0012 | a0001c0001a0012c0012 | a0001c0001t0001a0012c0012t0001 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0041 others(13): Show |
37 | 236 | 0.1568 | -6 | c.336 others(23): Show |
A3GALT2 | ENSG00000184389.9 | transcript | ENST00000442999.3 | protein_coding | 4/4 | chr1 | TogoVar | |||||||
A3GALT2_chr1_33301766_33326098 | 33319628 | GCCTGCA | G | intron_variant | MODIFIER | HG02572.hp2 NA18522.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 a0001c0001t0001g0060 |
3 | 416 | 0.0072 | -6 | c.23+ others(21): Show |
A3GALT2 | ENSG00000184389.9 | transcript | ENST00000442999.3 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42688652 | AGACGTG | A | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00544.hp2 others(129): Show |
a0001a0004 | a0001c0001a0001c0009a0004c0005 | a0001c0001t0002a0001c0001t0007a0001c0001t0016others(7): Show | a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 others(125): Show |
132 | 404 | 0.3267 | -6 | c.*42 others(17): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 3468 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42698939 | GCAACGT | G | intron_variant | MODIFIER | HG00323.hp1 HG01934.hp1 HG01952.hp2 others(16): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0004a0001c0011t0004 | a0001c0001t0004g0232 a0001c0001t0004g0234 a0001c0001t0004g0237 others(16): Show |
19 | 280 | 0.0679 | -6 | c.-18 others(25): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42703106 | CTGTGTG | C | intron_variant | MODIFIER | HG02258.hp2 HG02922.hp1 HG02970.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0004a0002c0003t0001 | a0001c0001t0004g0295 a0002c0003t0001g0253 a0002c0003t0001g0284 others(3): Show |
6 | 17 | 0.3529 | -6 | c.-18 others(25): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42715853 | ATGGAGT | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(240): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0009others(6): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(23): Show | a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 others(234): Show |
243 | 404 | 0.6015 | -6 | c.-18 others(25): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42722157 | CAAAAAA | C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00621.hp1 others(59): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0004a0001c0001t0007a0001c0001t0016others(8): Show | a0001c0001t0004g0287 a0001c0001t0007g0020 a0001c0001t0007g0030 others(58): Show |
62 | 123 | 0.5041 | -6 | c.-15 others(17): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1288 | chr22 | TogoVar | |||||||
AAAS_chr12_53302460_53326610 | 53304861 | GTTTTTT | G | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(266): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(144): Show |
269 | 285 | 0.9439 | -6 | c.*26 others(17): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2598 | chr12 | TogoVar | |||||||
AAAS_chr12_53302460_53326610 | 53318239 | TGTGTGC | T | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02723.hp1 others(3): Show |
a0002 | a0002c0004 | a0002c0004t0001a0002c0004t0002 | a0002c0004t0001g0047 a0002c0004t0001g0147 a0002c0004t0002g0023 others(1): Show |
6 | 327 | 0.0183 | -6 | c.251 others(23): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | |||||||
AACS_chr12_125060435_125148316 | 125062916 | CGTGTGT | C | upstream_gene_variant | MODIFIER | HG00558.hp2 HG00733.hp1 HG01081.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0020others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(4): Show | a0001c0001t0001g0007 a0001c0001t0001g0080 a0001c0001t0001g0162 others(15): Show |
18 | 83 | 0.2169 | -6 | c.-26 others(17): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 2518 | chr12 | TogoVar | |||||||
AACS_chr12_125060435_125148316 | 125094978 | CGTGTGT | C | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG00597.hp2 others(42): Show |
a0001a0002a0010 | a0001c0001a0001c0004a0001c0008others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(11): Show | a0001c0001t0001g0079 a0001c0001t0001g0091 a0001c0001t0001g0093 others(40): Show |
45 | 53 | 0.8491 | -6 | c.570 others(23): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125110189 | TTGTGTG | T | intron_variant | MODIFIER | HG00558.hp1 HG00642.hp1 HG01928.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0169 a0001c0001t0001g0256 a0001c0001t0001g0280 others(13): Show |
16 | 29 | 0.5517 | -6 | c.915 others(23): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125137734 | CTGTGTG | C | intron_variant | MODIFIER | HG02280.hp1 HG03471.hp1 HG06807.hp1 |
a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0018 a0002c0007t0001g0019 a0002c0007t0001g0027 |
3 | 362 | 0.0083 | -6 | c.188 others(23): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AADACL2_chr3_151728927_151766339 | 151761204 | GATATAT | G | 3_prime_UTR_variant | MODIFIER | HG01981.hp1 HG02273.hp1 NA18950.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001 | a0001c0001t0003g0002 a0002c0002t0001g0004 a0002c0002t0001g0121 |
4 | 72 | 0.0556 | -6 | c.*36 others(17): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 5/5 | 3643 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
AADACL4_chr1_12639085_12672076 | 12643448 | CTTTTTT | C | upstream_gene_variant | MODIFIER | HG00323.hp2 HG01169.hp2 HG02280.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 others(10): Show |
13 | 245 | 0.0531 | -6 | c.-10 others(17): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 636 | chr1 | TogoVar | |||||||
AADAT_chr4_170055222_170094956 | 170085914 | TAAGATA | T | intron_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02109.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 a0001c0001t0001g0109 a0001c0001t0001g0110 others(2): Show |
6 | 376 | 0.0160 | -6 | c.369 others(23): Show |
AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 3/12 | chr4 | TogoVar | |||||||
AAGAB_chr15_67195667_67259661 | 67222238 | GCGCGCA | G | intron_variant | MODIFIER | HG00140.hp1 HG02965.hp1 HG03831.hp1 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0005 a0001c0001t0001g0247 a0001c0001t0001g0280 others(5): Show |
8 | 374 | 0.0214 | -6 | c.535 others(23): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | chr15 | TogoVar | |||||||
AAGAB_chr15_67195667_67259661 | 67222240 | GCGCACA | G | intron_variant | MODIFIER | HG00323.hp1 HG01074.hp2 HG01346.hp2 others(20): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0241 others(17): Show |
23 | 300 | 0.0767 | -6 | c.535 others(23): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | chr15 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69500664 | AATATAT | A | intron_variant | MODIFIER | HG02080.hp1 HG02109.hp1 HG02572.hp2 others(6): Show |
a0001a0004 | a0001c0001a0004c0012a0004c0013 | a0001c0001t0002a0001c0001t0041a0001c0001t0053others(5): Show | a0001c0001t0002g0083 a0001c0001t0002g0091 a0001c0001t0041g0287 others(6): Show |
9 | 185 | 0.0486 | -6 | c.227 others(25): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69559294 | ACACACT | A | intron_variant | MODIFIER | HG00099.hp2 HG01891.hp2 HG02132.hp2 others(25): Show |
a0001a0003a0006 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0033a0001c0001t0073a0001c0003t0008others(16): Show | a0001c0001t0033g0007 a0001c0001t0073g0070 a0001c0003t0008g0087 others(25): Show |
28 | 296 | 0.0946 | -6 | c.164 others(23): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69573994 | CAAAATA | C | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01243.hp1 others(67): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0005a0001c0001t0007a0001c0001t0010others(37): Show | a0001c0001t0005g0197 a0001c0001t0005g0213 a0001c0001t0005g0218 others(67): Show |
70 | 295 | 0.2373 | -6 | c.164 others(25): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69575308 | ACCAGGG | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(102): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(13): Show | a0001c0001t0002a0001c0001t0033a0001c0001t0070others(58): Show | a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0051 others(102): Show |
105 | 296 | 0.3547 | -6 | c.164 others(25): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69607046 | CAAAAAA | C | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG01928.hp2 others(16): Show |
a0001a0003a0004 | a0001c0001a0001c0007a0001c0009others(3): Show | a0001c0001t0012a0001c0001t0021a0001c0001t0041others(13): Show | a0001c0001t0012g0059 a0001c0001t0021g0278 a0001c0001t0041g0287 others(16): Show |
19 | 174 | 0.1092 | -6 | c.163 others(25): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69640049 | ACACACT | A | intron_variant | MODIFIER | HG00099.hp2 HG01884.hp2 HG03139.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0073a0001c0004t0066a0001c0006t0037others(2): Show | a0001c0001t0073g0070 a0001c0004t0066g0067 a0001c0006t0037g0009 others(2): Show |
5 | 267 | 0.0187 | -6 | c.163 others(23): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAMDC_chr11_77816144_77877352 | 77827103 | CAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(161): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0004 | a0001c0002t0001a0001c0002t0002a0002c0003t0001others(1): Show | a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 others(156): Show |
164 | 378 | 0.4339 | -6 | c.-19 others(23): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77830987 | CAAAAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(51): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0001a0002c0004t0001 | a0002c0003t0001g0003 a0002c0003t0001g0004 a0002c0003t0001g0005 others(48): Show |
54 | 145 | 0.3724 | -6 | c.-19 others(23): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77832949 | ATATGTG | A | intron_variant | MODIFIER | HG00099.hp1 HG00673.hp2 HG00733.hp2 others(42): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0010 a0001c0002t0002g0222 a0001c0002t0002g0230 others(41): Show |
45 | 349 | 0.1289 | -6 | c.-18 others(23): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77832951 | ATGTGTG | A | intron_variant | MODIFIER | HG00544.hp2 HG01081.hp1 HG01433.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0002 a0001c0001t0001g0106 a0001c0001t0001g0136 others(13): Show |
16 | 144 | 0.1111 | -6 | c.-18 others(23): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77850785 | TACACAC | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(216): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(208): Show |
219 | 376 | 0.5824 | -6 | c.132 others(23): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAR2_chr20_36231478_36261933 | 36232816 | CCTCTCT | C | upstream_gene_variant | MODIFIER | HG02630.hp2 HG03225.hp1 NA18522.hp2 |
a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0034 a0001c0004t0005g0127 |
3 | 150 | 0.0200 | -6 | c.-37 others(17): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 3661 | chr20 | TogoVar | |||||||
AAR2_chr20_36231478_36261933 | 36237750 | GTATTAT | G | intron_variant | MODIFIER | HG00642.hp1 HG01192.hp1 HG01361.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0009a0001c0002t0002others(2): Show | a0001c0001t0001g0010 a0001c0001t0001g0125 a0001c0001t0001g0126 others(17): Show |
26 | 132 | 0.1970 | -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 | 36242362 | CTTTTGT | C | intron_variant | MODIFIER | HG01081.hp1 HG02723.hp1 NA19043.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0036 a0001c0002t0001g0159 |
3 | 285 | 0.0105 | -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 | 36242364 | TTTGTTG | T | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01192.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0027 others(6): Show |
9 | 153 | 0.0588 | -6 | c.757 others(23): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
AARD_chr8_116933207_116949487 | 116938485 | AGGCGGC | A | conservative_inframe_deletion | MODERATE | HG02257.hp1 HG02647.hp1 HG02809.hp1 others(1): Show |
a0005 | a0005c0005 | a0005c0005t0007 | a0005c0005t0007g0007 | 4 | 440 | 0.0091 | -6 | c.259 others(13): Show |
p.Ala others(11): Show |
AARD | ENSG00000205002.4 | transcript | ENST00000378279.4 | protein_coding | 1/2 | 296/2291 | 259/468 | 87/155 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||
AARS1_chr16_70247298_70294506 | 70248771 | CTTTTTT | C | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02451.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(1): Show | a0001c0001t0001g0052 a0001c0001t0001g0084 a0001c0001t0001g0085 others(9): Show |
13 | 193 | 0.0674 | -6 | c.*39 others(17): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 3526 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70250123 | AAATAAT | A | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(86): Show |
a0001a0010 | a0001c0001a0001c0007a0001c0013others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0007t0001others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0039 a0001c0001t0001g0043 others(86): Show |
89 | 360 | 0.2472 | -6 | c.*25 others(17): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 2174 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70250683 | AAAAAAG | A | downstream_gene_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02559.hp2 others(17): Show |
a0002a0009 | a0002c0004a0009c0009 | a0002c0004t0001a0009c0009t0001 | a0002c0004t0001g0335 a0002c0004t0001g0338 a0002c0004t0001g0339 others(17): Show |
20 | 360 | 0.0556 | -6 | c.*20 others(17): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 1614 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70272889 | GACACAC | G | intron_variant | MODIFIER | HG01192.hp2 HG02683.hp1 HG04204.hp1 others(1): Show |
a0001a0004 | a0001c0003a0001c0012a0004c0006 | a0001c0003t0001a0001c0012t0001a0004c0006t0001 | a0001c0003t0001g0190 a0001c0012t0001g0316 a0004c0006t0001g0317 others(1): Show |
4 | 97 | 0.0412 | -6 | c.480 others(21): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | chr16 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42967284 | TAATATA | T | upstream_gene_variant | MODIFIER | HG02615.hp1 NA18522.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0072 |
3 | 165 | 0.0182 | -6 | c.-28 others(17): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2831 | chr17 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42967307 | TTATATA | T | upstream_gene_variant | MODIFIER | HG02615.hp1 NA18522.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0072 |
3 | 250 | 0.0120 | -6 | c.-28 others(17): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2854 | chr17 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42967318 | ATAATAT | A | upstream_gene_variant | MODIFIER | HG00140.hp2 HG03490.hp2 HG03669.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0073 others(1): Show |
4 | 253 | 0.0158 | -6 | c.-28 others(17): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2865 | chr17 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42967402 | AATATAT | A | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00597.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(16): Show |
28 | 312 | 0.0897 | -6 | c.-29 others(17): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2949 | chr17 | TogoVar | |||||||
AASDH_chr4_56333290_56392491 | 56341389 | CTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00544.hp1 others(35): Show |
a0001a0013 | a0001c0005a0013c0021 | a0001c0005t0001a0001c0005t0005a0013c0021t0001 | a0001c0005t0001g0011 a0001c0005t0001g0028 a0001c0005t0001g0032 others(32): Show |
38 | 116 | 0.3276 | -6 | c.290 others(25): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 14/14 | chr4 | TogoVar | |||||||
AASDH_chr4_56333290_56392491 | 56386799 | CAAAAAA | C | intron_variant | MODIFIER | HG01167.hp2 HG02809.hp1 HG02896.hp2 others(3): Show |
a0003a0012 | a0003c0003a0012c0023 | a0003c0003t0002a0012c0023t0002 | a0003c0003t0002g0003 a0003c0003t0002g0042 a0012c0023t0002g0043 |
6 | 106 | 0.0566 | -6 | c.-43 others(21): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 1/14 | chr4 | TogoVar | |||||||
AASS_chr7_122068549_122149249 | 122099782 | AATAAAT | A | intron_variant | MODIFIER | HG00735.hp1 HG02109.hp2 HG02148.hp1 others(19): Show |
a0001a0009a0011 | a0001c0001a0001c0003a0009c0011others(1): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0012others(4): Show | a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0052 others(19): Show |
22 | 382 | 0.0576 | -6 | c.140 others(23): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 13/23 | chr7 | TogoVar |