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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A2ML1_chr12_8817621_8881787 | 8838805 | TCGGGGAG others(9): Show |
T | intron_variant | MODIFIER | NA18945.hp1 NA18969.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0187 a0001c0001t0003g0266 |
2 | 366 | 0.0055 | -16 | c.971 others(31): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 9/35 | chr12 | TogoVar | |||||||
A2ML1_chr12_8817621_8881787 | 8854629 | GAGTTCTT others(9): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(206): Show |
a0001a0004a0006others(10): Show | a0001c0001a0001c0002a0001c0003others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0057 others(204): Show |
209 | 366 | 0.5710 | -16 | c.271 others(33): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 21/35 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
A3GALT2_chr1_33301766_33326098 | 33308018 | CCCCCACC others(9): Show |
C | intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 416 | 0.0024 | -16 | c.336 others(31): Show |
A3GALT2 | ENSG00000184389.9 | transcript | ENST00000442999.3 | protein_coding | 4/4 | chr1 | TogoVar | |||||||
AACS_chr12_125060435_125148316 | 125094978 | CGTGTGTG others(9): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(163): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0007 a0001c0001t0001g0028 a0001c0001t0001g0030 others(161): Show |
166 | 174 | 0.9540 | -16 | c.570 others(33): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125110189 | TTGTGTGT others(9): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG01074.hp2 HG01975.hp1 others(15): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0003t0004a0001c0004t0001others(6): Show | a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 others(15): Show |
18 | 31 | 0.5806 | -16 | c.915 others(33): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AADACL2_chr3_151728927_151766339 | 151761204 | GATATATA others(9): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00544.hp2 others(104): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0012others(7): Show | a0001c0001t0002g0001 a0001c0001t0002g0015 a0001c0001t0002g0018 others(42): Show |
107 | 175 | 0.6114 | -16 | c.*36 others(27): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 5/5 | 3633 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
AAK1_chr2_69452997_69648739 | 69500690 | TATATATA others(9): Show |
T | intron_variant | MODIFIER | HG02622.hp1 HG02896.hp2 HG03486.hp1 others(1): Show |
a0002 | a0002c0005a0002c0016 | a0002c0005t0018a0002c0005t0095a0002c0016t0098 | a0002c0005t0018g0103 a0002c0005t0018g0104 a0002c0005t0095g0163 others(1): Show |
4 | 251 | 0.0159 | -16 | c.227 others(35): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69559284 | ACACACAC others(9): Show |
A | intron_variant | MODIFIER | NA19010.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0227 | 1 | 296 | 0.0034 | -16 | c.164 others(33): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69647388 | TTTTATTT others(9): Show |
T | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00735.hp1 others(87): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0005a0001c0001t0007a0001c0001t0010others(39): Show | a0001c0001t0005g0197 a0001c0001t0005g0213 a0001c0001t0005g0218 others(87): Show |
90 | 163 | 0.5521 | -16 | c.-40 others(27): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3650 | chr2 | TogoVar | |||||||
AAMDC_chr11_77816144_77877352 | 77832951 | ATGTGTGT others(9): Show |
A | intron_variant | MODIFIER | HG01975.hp1 HG02056.hp2 HG02148.hp1 others(8): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0105 a0001c0001t0001g0116 a0001c0001t0001g0131 others(8): Show |
11 | 139 | 0.0791 | -16 | c.-18 others(33): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77850769 | CACACATA others(9): Show |
C | intron_variant | MODIFIER | HG02647.hp2 HG02922.hp1 HG03209.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0342 a0001c0002t0002g0343 a0001c0002t0002g0344 others(1): Show |
4 | 380 | 0.0105 | -16 | c.132 others(33): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77850775 | TACACACA others(9): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(68): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0206 others(66): Show |
71 | 380 | 0.1868 | -16 | c.132 others(33): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70269322 | GAAAAAAA others(9): Show |
G | intron_variant | MODIFIER | HG01433.hp2 NA21309.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0133 a0002c0004t0001g0346 |
2 | 39 | 0.0513 | -16 | c.962 others(31): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 7/20 | chr16 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42965994 | CAAAAAAA others(9): Show |
C | upstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0008 | 1 | 40 | 0.0250 | -16 | c.-15 others(27): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 1541 | chr17 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42967491 | ATTTTAAA others(9): Show |
A | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00673.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(12): Show |
23 | 322 | 0.0714 | -16 | c.-30 others(27): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 3038 | chr17 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42967493 | TTTAAATA others(9): Show |
T | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00621.hp1 HG02071.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0028 a0001c0001t0001g0096 others(2): Show |
5 | 251 | 0.0199 | -16 | c.-30 others(27): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 3040 | chr17 | TogoVar | |||||||
AASDH_chr4_56333290_56392491 | 56342110 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(73): Show |
a0003a0012 | a0003c0003a0012c0023 | a0003c0003t0002a0012c0023t0002 | a0003c0003t0002g0003 a0003c0003t0002g0010 a0003c0003t0002g0025 others(65): Show |
76 | 297 | 0.2559 | -16 | c.290 others(33): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 14/14 | chr4 | TogoVar | |||||||
AATF_chr17_36943954_37061871 | 36968266 | CTTTCTTT others(9): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00558.hp2 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0148 a0001c0001t0002g0001 a0001c0001t0002g0002 others(28): Show |
32 | 194 | 0.1649 | -16 | c.832 others(35): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 37001405 | GAGGAAGG others(9): Show |
G | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0045 | 1 | 116 | 0.0086 | -16 | c.139 others(37): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATK_chr17_81112295_81171221 | 81119229 | TGGGGCCG others(9): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(175): Show |
a0001a0002a0003others(11): Show | a0001c0001a0002c0002a0002c0032others(24): Show | a0001c0001t0001a0001c0001t0005a0002c0002t0001others(32): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(164): Show |
178 | 276 | 0.6449 | -16 | c.408 others(33): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 13/13 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81140639 | AGACCGTG others(9): Show |
A | intron_variant | MODIFIER | HG01255.hp2 HG02809.hp1 HG02895.hp1 |
a0012a0016 | a0012c0016a0016c0022 | a0012c0016t0001a0016c0022t0009 | a0012c0016t0001g0179 a0016c0022t0009g0240 a0016c0022t0009g0262 |
3 | 366 | 0.0082 | -16 | c.56- others(31): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81140815 | GCCGTGGG others(9): Show |
G | intron_variant | MODIFIER | HG03486.hp2 | a0007 | a0007c0008 | a0007c0008t0013 | a0007c0008t0013g0198 | 1 | 366 | 0.0027 | -16 | c.56- others(31): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81141917 | CTCCTTCC others(9): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00438.hp1 others(87): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0011others(12): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(17): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0014 others(80): Show |
90 | 355 | 0.2535 | -16 | c.56- others(31): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81141945 | TTCCTTCC others(9): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG04228.hp1 NA18979.hp2 others(1): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0003 | a0001c0001t0001a0001c0004t0002a0003c0003t0002 | a0001c0001t0001g0059 a0001c0004t0002g0079 a0001c0004t0002g0080 others(1): Show |
4 | 366 | 0.0109 | -16 | c.56- others(31): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
ABAT_chr16_8669617_8789570 | 8709350 | TTTTATTT others(9): Show |
T | intron_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0007 | a0002c0007t0013 | a0002c0007t0013g0024 | 1 | 81 | 0.0123 | -16 | c.-41 others(35): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8710683 | TGAGAGAG others(9): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG01192.hp1 HG01496.hp2 others(3): Show |
a0001a0002 | a0001c0003a0002c0002a0002c0004others(2): Show | a0001c0003t0002a0002c0002t0002a0002c0004t0001others(2): Show | a0001c0003t0002g0170 a0002c0002t0002g0020 a0002c0004t0001g0019 others(3): Show |
6 | 350 | 0.0171 | -16 | c.-41 others(35): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8733062 | GCCGGGCG others(9): Show |
G | intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0086 | 1 | 360 | 0.0028 | -16 | c.-41 others(33): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8754662 | ATTTATTT others(9): Show |
A | intron_variant | MODIFIER | HG01192.hp2 HG01258.hp1 HG01516.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0211 a0001c0001t0002g0152 a0001c0001t0002g0251 others(7): Show |
10 | 30 | 0.3333 | -16 | c.317 others(33): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8772252 | CTGTGTGT others(9): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG02074.hp2 HG02280.hp2 others(4): Show |
a0001a0002 | a0001c0003a0001c0021a0002c0002others(2): Show | a0001c0003t0002a0001c0021t0001a0002c0002t0002others(3): Show | a0001c0003t0002g0170 a0001c0021t0001g0120 a0002c0002t0002g0020 others(4): Show |
7 | 22 | 0.3182 | -16 | c.817 others(31): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8773105 | TACACACA others(9): Show |
T | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 28 | 0.0357 | -16 | c.954 others(31): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215064693 | GCACACAC others(9): Show |
G | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0002 | a0002c0017 | a0002c0017t0016 | a0002c0017t0016g0179 a0002c0017t0016g0180 |
2 | 68 | 0.0294 | -16 | c.164 others(31): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215133149 | ATTTTTTT others(9): Show |
A | intron_variant | MODIFIER | HG06807.hp1 | a0004 | a0004c0018 | a0004c0018t0008 | a0004c0018t0008g0196 | 1 | 30 | 0.0333 | -16 | c.69+ others(31): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48172797 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp2 others(61): Show |
a0001a0002a0004others(38): Show | a0001c0001a0002c0002a0002c0022others(46): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(57): Show | a0001c0001t0001g0133 a0001c0001t0004g0164 a0001c0001t0006g0178 others(61): Show |
64 | 69 | 0.9275 | -16 | c.69+ others(31): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 1/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48219883 | AACACACA others(9): Show |
A | intron_variant | MODIFIER | HG02809.hp2 HG03471.hp1 |
a0014 | a0014c0025 | a0014c0025t0003 | a0014c0025t0003g0024 a0014c0025t0003g0025 |
2 | 35 | 0.0571 | -16 | c.439 others(31): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 4/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48225135 | GCCTTCCT others(9): Show |
G | intron_variant | MODIFIER | HG01167.hp2 | a0019 | a0019c0109 | a0019c0109t0001 | a0019c0109t0001g0120 | 1 | 49 | 0.0204 | -16 | c.469 others(33): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 5/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48329601 | ACATCCAT others(9): Show |
A | intron_variant | MODIFIER | HG02109.hp2 | a0043 | a0043c0039 | a0043c0039t0001 | a0043c0039t0001g0003 | 1 | 176 | 0.0057 | -16 | c.100 others(37): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 27/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48410977 | CTCTTTCT others(9): Show |
C | intron_variant | MODIFIER | HG02622.hp2 HG06807.hp1 NA18956.hp2 others(3): Show |
a0001a0028a0074others(2): Show | a0001c0001a0028c0028a0074c0036others(2): Show | a0001c0001t0004a0028c0028t0003a0074c0036t0007others(2): Show | a0001c0001t0004g0164 a0028c0028t0003g0005 a0028c0028t0003g0011 others(3): Show |
6 | 91 | 0.0659 | -16 | c.122 others(35): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 40/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48563794 | TTGTGTGT others(9): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00741.hp1 HG01070.hp2 others(27): Show |
a0001a0002a0003others(19): Show | a0001c0001a0002c0022a0003c0003others(21): Show | a0001c0001t0004a0002c0022t0004a0003c0003t0004others(22): Show | a0001c0001t0004g0049 a0001c0001t0004g0164 a0002c0022t0004g0163 others(27): Show |
30 | 41 | 0.7317 | -16 | c.143 others(39): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48633931 | CATAGATA others(9): Show |
C | intron_variant | MODIFIER | HG01074.hp2 HG01433.hp1 HG03139.hp2 others(1): Show |
a0001a0036 | a0001c0001a0001c0010a0036c0081 | a0001c0001t0001a0001c0010t0001a0036c0081t0001 | a0001c0001t0001g0004 a0001c0001t0001g0177 a0001c0010t0001g0067 others(1): Show |
4 | 115 | 0.0348 | -16 | c.148 others(37): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 59/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104896711 | CTTTTTTT others(9): Show |
C | intron_variant | MODIFIER | HG00609.hp2 NA19066.hp1 NA19082.hp1 |
a0003a0006a0013 | a0003c0002a0006c0004a0013c0013 | a0003c0002t0002a0006c0004t0004a0013c0013t0003 | a0003c0002t0002g0122 a0006c0004t0004g0282 a0013c0013t0003g0120 |
3 | 48 | 0.0625 | -16 | c.66+ others(31): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 2/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104898549 | AAAATAAA others(9): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG01168.hp1 HG01169.hp2 others(45): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0005a0002c0011others(33): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(36): Show | a0001c0001t0001g0089 a0001c0001t0001g0264 a0001c0001t0003g0090 others(45): Show |
48 | 166 | 0.2892 | -16 | c.66+ others(31): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 2/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104909607 | TACACACA others(9): Show |
T | intron_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0032 | a0002c0032t0001 | a0002c0032t0001g0026 | 1 | 87 | 0.0115 | -16 | c.-92 others(33): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 1/49 | chr9 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2343708 | CCTATCTA others(9): Show |
C | upstream_gene_variant | MODIFIER | HG01081.hp2 HG01109.hp2 HG01169.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0090 others(20): Show |
23 | 38 | 0.6053 | -16 | c.-36 others(27): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 2981 | chr16 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94014358 | AGAGGAAG others(9): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG02976.hp2 HG03453.hp1 others(3): Show |
a0001a0002a0041others(2): Show | a0001c0004a0002c0029a0041c0071others(2): Show | a0001c0004t0001a0002c0029t0001a0041c0071t0003others(2): Show | a0001c0004t0001g0156 a0002c0029t0001g0262 a0002c0029t0001g0263 others(3): Show |
6 | 304 | 0.0197 | -16 | c.546 others(33): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 38/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94044108 | TCCTTCCT others(9): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(263): Show |
a0001a0002a0003others(40): Show | a0001c0001a0001c0003a0001c0004others(85): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(87): Show | a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0021 others(258): Show |
266 | 304 | 0.8750 | -16 | c.305 others(33): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 20/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94116968 | CTCTTTCT others(9): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02886.hp2 HG06807.hp2 others(1): Show |
a0002a0003a0004 | a0002c0002a0003c0015a0004c0011 | a0002c0002t0001a0003c0015t0001a0004c0011t0002 | a0002c0002t0001g0082 a0003c0015t0001g0184 a0003c0015t0001g0185 others(1): Show |
4 | 144 | 0.0278 | -16 | c.67- others(31): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 1/49 | chr1 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69282878 | AGGAATTA others(9): Show |
A | intron_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0142 | 1 | 348 | 0.0029 | -16 | c.239 others(35): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 18/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69293870 | GTGCGTGT others(9): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG01175.hp2 HG01261.hp2 others(12): Show |
a0002a0015 | a0002c0001a0015c0019 | a0002c0001t0002a0002c0001t0031a0002c0001t0032others(1): Show | a0002c0001t0002g0014 a0002c0001t0002g0212 a0002c0001t0002g0217 others(12): Show |
15 | 292 | 0.0514 | -16 | c.149 others(33): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 11/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69298269 | AAGGAAGG others(9): Show |
A | intron_variant | MODIFIER | HG02615.hp1 HG02647.hp2 HG03041.hp2 others(1): Show |
a0001a0005 | a0001c0010a0005c0007 | a0001c0010t0010a0005c0007t0006 | a0001c0010t0010g0331 a0001c0010t0010g0334 a0005c0007t0006g0340 others(1): Show |
4 | 348 | 0.0115 | -16 | c.126 others(33): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69082328 | AACACACA others(9): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02970.hp1 |
a0006 | a0006c0013 | a0006c0013t0001 | a0006c0013t0001g0163 a0006c0013t0001g0246 |
2 | 95 | 0.0211 | -16 | c.461 others(33): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 36/38 | chr17 | TogoVar |