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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A1CF_chr10_50794409_50890627 | 50824645 | GGCATGTA others(3): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG02922.hp2 HG03139.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0038 | a0001c0001t0008g0006 a0001c0001t0008g0102 a0001c0001t0038g0056 |
5 | 336 | 0.0149 | -10 | c.769 others(27): Show |
A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 7/12 | chr10 | TogoVar | |||||||
A2ML1_chr12_8817621_8881787 | 8845864 | ATAAATAA others(3): Show |
A | intron_variant | MODIFIER | HG02717.hp1 HG02922.hp1 |
a0003a0010 | a0003c0022a0010c0054 | a0003c0022t0001a0010c0054t0005 | a0003c0022t0001g0220 a0010c0054t0005g0312 |
2 | 358 | 0.0056 | -10 | c.153 others(27): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 13/35 | chr12 | TogoVar | |||||||
A2M_chr12_9062708_9120919 | 9108099 | GTTTATTT others(3): Show |
G | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG01175.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0226 a0002c0002t0002g0015 a0002c0002t0002g0016 others(8): Show |
13 | 144 | 0.0903 | -10 | c.759 others(25): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 7/35 | chr12 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42703106 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00738.hp1 HG01074.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0096 a0001c0002t0005g0099 a0001c0002t0005g0100 others(1): Show |
4 | 15 | 0.2667 | -10 | c.-18 others(29): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42722157 | CAAAAAAA others(3): Show |
C | upstream_gene_variant | MODIFIER | HG03540.hp2 HG04184.hp2 |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0002a0004c0005t0010 | a0001c0001t0002g0107 a0004c0005t0010g0280 |
2 | 63 | 0.0317 | -10 | c.-15 others(21): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1288 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42722222 | CATTTTTT others(3): Show |
C | upstream_gene_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0056 | 1 | 324 | 0.0031 | -10 | c.-16 others(21): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1353 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42722223 | ATTTTTTT others(3): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(131): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0009others(3): Show | a0001c0001t0002a0001c0001t0019a0001c0001t0022others(12): Show | a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 others(127): Show |
134 | 197 | 0.6802 | -10 | c.-16 others(21): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1354 | chr22 | TogoVar | |||||||
AAAS_chr12_53302460_53326610 | 53318235 | TGTGTGTG others(3): Show |
T | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 328 | 0.0030 | -10 | c.251 others(27): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | |||||||
AAAS_chr12_53302460_53326610 | 53318245 | CGTGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 203 | 0.0049 | -10 | c.251 others(27): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | |||||||
AACS_chr12_125060435_125148316 | 125094978 | CGTGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01071.hp2 others(14): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(4): Show | a0001c0001t0001g0005 a0001c0001t0002g0003 a0001c0001t0002g0171 others(11): Show |
17 | 25 | 0.6800 | -10 | c.570 others(27): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125103987 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02145.hp2 HG02559.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0015 others(8): Show |
12 | 28 | 0.4286 | -10 | c.767 others(25): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125110189 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00642.hp2 others(74): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(9): Show | a0001c0001t0001g0007 a0001c0001t0001g0052 a0001c0001t0001g0054 others(72): Show |
77 | 90 | 0.8556 | -10 | c.915 others(27): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125122040 | CGAGAGGT others(3): Show |
C | intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0050 | 1 | 362 | 0.0028 | -10 | c.112 others(29): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125141701 | AAAAAAAA others(3): Show |
A | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 362 | 0.0028 | -10 | c.188 others(27): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AADACL2_chr3_151728927_151766339 | 151761194 | TACATATT others(3): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00438.hp1 HG02165.hp2 HG02486.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0013 | a0001c0001t0009g0002 a0001c0001t0009g0056 a0001c0001t0009g0083 others(2): Show |
6 | 426 | 0.0141 | -10 | c.*36 others(21): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 5/5 | 3602 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
AADACL2_chr3_151728927_151766339 | 151761204 | GATATATA others(3): Show |
G | 3_prime_UTR_variant | MODIFIER | NA19056.hp1 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0005 | 1 | 69 | 0.0145 | -10 | c.*36 others(21): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 5/5 | 3639 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
AADACL3_chr1_12711110_12733760 | 12722340 | AAAAAAAA others(3): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(96): Show |
a0002a0003a0004others(4): Show | a0002c0003a0002c0018a0003c0005others(8): Show | a0002c0003t0003a0002c0003t0005a0002c0003t0038others(24): Show | a0002c0003t0003g0004 a0002c0003t0003g0005 a0002c0003t0003g0135 others(43): Show |
99 | 430 | 0.2302 | -10 | c.449 others(27): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 3/3 | chr1 | TogoVar | |||||||
AADAC_chr3_151809116_151833488 | 151821089 | TGAGTGCC others(3): Show |
T | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0071 | 1 | 438 | 0.0023 | -10 | c.431 others(25): Show |
AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
AAGAB_chr15_67195667_67259661 | 67196162 | CAAAAAAA others(3): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00544.hp1 others(202): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0014 others(169): Show |
205 | 218 | 0.9404 | -10 | c.*66 others(21): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 4504 | chr15 | TogoVar | |||||||
AAGAB_chr15_67195667_67259661 | 67222221 | TGCACGCG others(3): Show |
T | intron_variant | MODIFIER | HG02486.hp1 HG02622.hp1 HG03041.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0011 a0001c0001t0004g0228 a0001c0001t0004g0229 |
5 | 378 | 0.0132 | -10 | c.535 others(27): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | chr15 | TogoVar | |||||||
AAGAB_chr15_67195667_67259661 | 67222236 | GCGCGCGC others(3): Show |
G | intron_variant | MODIFIER | HG00733.hp2 HG01069.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0022 | 2 | 377 | 0.0053 | -10 | c.535 others(27): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | chr15 | TogoVar | |||||||
AAGAB_chr15_67195667_67259661 | 67222240 | GCGCACAC others(3): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG02145.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 a0001c0001t0001g0242 |
2 | 279 | 0.0072 | -10 | c.535 others(27): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | chr15 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69493158 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02559.hp2 HG02622.hp1 HG02896.hp2 others(1): Show |
a0002 | a0002c0005 | a0002c0005t0018a0002c0005t0095 | a0002c0005t0018g0077 a0002c0005t0018g0103 a0002c0005t0018g0104 others(1): Show |
4 | 73 | 0.0548 | -10 | c.236 others(29): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69500664 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | HG02015.hp2 HG02717.hp2 HG03654.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0059 | a0001c0001t0002g0023 a0001c0001t0002g0092 a0001c0001t0059g0288 |
3 | 179 | 0.0168 | -10 | c.227 others(29): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69523400 | CTTTAGAG others(3): Show |
C | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0119 | a0001c0001t0119g0188 | 1 | 296 | 0.0034 | -10 | c.105 others(29): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 10/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69523414 | CTAAAATA others(3): Show |
C | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0119 | a0001c0001t0119g0188 | 1 | 296 | 0.0034 | -10 | c.105 others(29): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 10/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69524412 | TTTTTGTT others(3): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG03471.hp2 NA18612.hp1 |
a0001a0004 | a0001c0003a0004c0012 | a0001c0003t0103a0004c0012t0032a0004c0012t0057 | a0001c0003t0103g0136 a0004c0012t0032g0283 a0004c0012t0057g0080 |
3 | 81 | 0.0370 | -10 | c.105 others(27): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 10/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69568425 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0144 | 1 | 250 | 0.0040 | -10 | c.164 others(29): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAMDC_chr11_77816144_77877352 | 77832949 | ATATGTGT others(3): Show |
A | intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0228 | 1 | 305 | 0.0033 | -10 | c.-18 others(27): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77832951 | ATGTGTGT others(3): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00609.hp2 HG00621.hp2 others(39): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0098 others(38): Show |
42 | 170 | 0.2471 | -10 | c.-18 others(27): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAR2_chr20_36231478_36261933 | 36232816 | CCTCTCTC others(3): Show |
C | upstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0147 | 1 | 148 | 0.0068 | -10 | c.-37 others(21): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 3661 | chr20 | TogoVar | |||||||
AAR2_chr20_36231478_36261933 | 36247645 | ATCACTTG others(3): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 a0001c0001t0001g0108 |
2 | 296 | 0.0068 | -10 | c.987 others(27): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
AAR2_chr20_36231478_36261933 | 36258142 | TACACACA others(3): Show |
T | downstream_gene_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 34 | 0.0294 | -10 | c.*23 others(21): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 1210 | chr20 | TogoVar | |||||||
AAR2_chr20_36231478_36261933 | 36258858 | AAAAAAAA others(3): Show |
A | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02486.hp2 HG02559.hp1 others(2): Show |
a0001 | a0001c0002a0001c0007 | a0001c0002t0002a0001c0002t0004a0001c0002t0007others(1): Show | a0001c0002t0002g0037 a0001c0002t0002g0162 a0001c0002t0004g0031 others(2): Show |
5 | 296 | 0.0169 | -10 | c.*31 others(21): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 1926 | chr20 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70262967 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01943.hp2 NA19055.hp1 NA19057.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0013others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0013t0001others(1): Show | a0001c0001t0001g0144 a0001c0002t0001g0283 a0001c0013t0001g0082 others(1): Show |
4 | 80 | 0.0500 | -10 | c.149 others(27): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 11/20 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70270474 | AGAGGGAA others(3): Show |
A | intron_variant | MODIFIER | NA20300.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0357 | 1 | 360 | 0.0028 | -10 | c.672 others(25): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 5/20 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70288032 | TGGGATTA others(3): Show |
T | intron_variant | MODIFIER | HG03654.hp1 | a0008 | a0008c0015 | a0008c0015t0001 | a0008c0015t0001g0008 | 1 | 360 | 0.0028 | -10 | c.-22 others(27): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 1/20 | chr16 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42947862 | CAAAAAAA others(3): Show |
C | downstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 123 | 0.0081 | -10 | c.*27 others(21): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2663 | chr17 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42965994 | CAAAAAAA others(3): Show |
C | upstream_gene_variant | MODIFIER | NA19087.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0145 | 1 | 40 | 0.0250 | -10 | c.-15 others(21): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 1541 | chr17 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42967198 | TATATTAT others(3): Show |
T | upstream_gene_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 322 | 0.0031 | -10 | c.-27 others(21): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2745 | chr17 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42967424 | TATATATG others(3): Show |
T | upstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 314 | 0.0032 | -10 | c.-29 others(21): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2971 | chr17 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42967494 | TTAAATAT others(3): Show |
T | upstream_gene_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 251 | 0.0040 | -10 | c.-30 others(21): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 3041 | chr17 | TogoVar | |||||||
AASDH_chr4_56333290_56392491 | 56386799 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG03831.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0041 | 1 | 101 | 0.0099 | -10 | c.-43 others(25): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 1/14 | chr4 | TogoVar | |||||||
AASS_chr7_122068549_122149249 | 122141658 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 75 | 0.0133 | -10 | c.-16 others(27): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 1/23 | chr7 | TogoVar | |||||||
AATF_chr17_36943954_37061871 | 37051693 | GACAGACA others(3): Show |
G | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 194 | 0.0052 | -10 | c.162 others(29): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATK_chr17_81112295_81171221 | 81127388 | GCCCCCAC others(3): Show |
G | intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0272 | 1 | 366 | 0.0027 | -10 | c.621 others(25): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 6/13 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81169974 | ACATGTGT others(3): Show |
A | upstream_gene_variant | MODIFIER | HG00609.hp2 HG00673.hp1 HG02027.hp2 others(3): Show |
a0002a0003 | a0002c0002a0003c0003a0003c0009 | a0002c0002t0001a0003c0003t0002a0003c0009t0001 | a0002c0002t0001g0040 a0002c0002t0001g0053 a0002c0002t0001g0064 others(3): Show |
6 | 366 | 0.0164 | -10 | c.-39 others(21): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 3754 | chr17 | TogoVar | |||||||
ABAT_chr16_8669617_8789570 | 8673396 | CTGTGTGT others(3): Show |
C | upstream_gene_variant | MODIFIER | HG01255.hp2 HG01257.hp1 HG01258.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0221 a0001c0001t0002g0027 a0001c0001t0002g0220 others(10): Show |
13 | 130 | 0.1000 | -10 | c.-13 others(21): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1220 | chr16 | TogoVar | |||||||
ABAT_chr16_8669617_8789570 | 8710684 | GAGAGAGA others(3): Show |
G | intron_variant | MODIFIER | HG02257.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 a0001c0001t0001g0333 |
2 | 360 | 0.0056 | -10 | c.-41 others(29): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8724736 | AAAAAAAA others(3): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00673.hp1 others(16): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0148 a0001c0001t0002g0291 a0001c0001t0002g0347 others(16): Show |
19 | 360 | 0.0528 | -10 | c.-41 others(29): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |