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 | 8841009 | A | AGGAAGGA others(29): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0074 | 1 | 108 | 0.0093 | 36 | c.108 others(53): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 10/35 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42708545 | A | AGAAGGAA others(29): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02135.hp1 HG02155.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0002t0005a0002c0003t0001 | a0001c0001t0002g0218 a0001c0002t0005g0131 a0001c0002t0005g0186 others(1): Show |
4 | 77 | 0.0519 | 36 | c.-18 others(57): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
AACS_chr12_125060435_125148316 | 125114794 | A | AGGCGCCG others(29): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03098.hp2 NA18522.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0011 |
3 | 360 | 0.0083 | 36 | c.996 others(51): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AADACL4_chr1_12639085_12672076 | 12658139 | C | CCTTCCTT others(29): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0045 | 1 | 244 | 0.0041 | 36 | c.386 others(53): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AADACL4_chr1_12639085_12672076 | 12658139 | C | CCTTCCTT others(29): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 244 | 0.0041 | 36 | c.386 others(53): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69493158 | C | CAAAAAAA others(29): Show |
intron_variant | MODIFIER | HG03195.hp1 NA20300.hp1 |
a0001 | a0001c0003a0001c0006 | a0001c0003t0076a0001c0006t0028 | a0001c0003t0076g0074 a0001c0006t0028g0132 |
2 | 71 | 0.0282 | 36 | c.236 others(55): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | chr2 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70269322 | G | GAAAAAAA others(29): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0337 | 1 | 38 | 0.0263 | 36 | c.962 others(51): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 7/20 | chr16 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81138546 | G | GCACACAC others(29): Show |
intron_variant | MODIFIER | HG01891.hp1 NA19043.hp2 |
a0007a0017 | a0007c0071a0017c0039 | a0007c0071t0001a0017c0039t0001 | a0007c0071t0001g0201 a0017c0039t0001g0260 |
2 | 366 | 0.0055 | 36 | c.56- others(51): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
ABAT_chr16_8669617_8789570 | 8737985 | G | GAAGAAAG others(29): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0164 | 1 | 270 | 0.0037 | 36 | c.70+ others(51): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8737989 | G | GAAGAAAG others(29): Show |
intron_variant | MODIFIER | HG01993.hp1 HG02622.hp2 HG02630.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0007 | a0001c0001t0003a0002c0002t0007a0002c0007t0007others(2): Show | a0001c0001t0003g0252 a0002c0002t0007g0270 a0002c0007t0007g0242 others(2): Show |
5 | 76 | 0.0658 | 36 | c.70+ others(51): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8737989 | G | GAAGGAAG others(29): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 |
a0002 | a0002c0008 | a0002c0008t0002 | a0002c0008t0002g0012 a0002c0008t0002g0014 |
2 | 73 | 0.0274 | 36 | c.70+ others(51): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8737989 | G | GAAGGAAG others(29): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02451.hp2 HG03139.hp2 |
a0002 | a0002c0005a0002c0008a0002c0012 | a0002c0005t0003a0002c0008t0002a0002c0012t0002 | a0002c0005t0003g0200 a0002c0008t0002g0013 a0002c0012t0002g0334 |
3 | 74 | 0.0405 | 36 | c.70+ others(51): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8737989 | G | GAAGGAAG others(29): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0092 | 1 | 72 | 0.0139 | 36 | c.70+ others(51): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8737989 | G | GAAGGAAG others(29): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 72 | 0.0139 | 36 | c.70+ others(51): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8743423 | T | TTATATAA others(29): Show |
intron_variant | MODIFIER | HG02145.hp1 NA18522.hp2 NA20300.hp2 |
a0001a0006 | a0001c0001a0006c0014 | a0001c0001t0001a0001c0001t0003a0006c0014t0001 | a0001c0001t0001g0333 a0001c0001t0003g0324 a0006c0014t0001g0035 |
3 | 276 | 0.0109 | 36 | c.71- others(51): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69162838 | C | CATATACA others(29): Show |
intron_variant | MODIFIER | NA18962.hp2 NA18963.hp2 NA19063.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0019 a0002c0002t0001g0021 a0002c0002t0001g0028 others(2): Show |
5 | 161 | 0.0311 | 36 | c.336 others(55): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 27/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69210847 | C | CACATATA others(29): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0016 | a0016c0037 | a0016c0037t0007 | a0016c0037t0007g0328 | 1 | 244 | 0.0041 | 36 | c.100 others(55): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69210847 | C | CATATATA others(29): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00733.hp2 HG01433.hp2 others(1): Show |
a0004 | a0004c0004a0004c0006 | a0004c0004t0003a0004c0006t0003 | a0004c0004t0003g0010 a0004c0004t0003g0234 a0004c0004t0003g0235 others(1): Show |
4 | 247 | 0.0162 | 36 | c.100 others(55): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214932627 | G | GGAAGTGT others(29): Show |
3_prime_UTR_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0006 | a0001c0006t0023 | a0001c0006t0023g0146 | 1 | 196 | 0.0051 | 36 | c.*6_ others(41): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 53/53 | 6 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 214989187 | C | CATACATA others(29): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01934.hp2 HG02738.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0006t0002 | a0001c0001t0002g0119 a0001c0001t0002g0150 a0001c0006t0002g0135 |
3 | 27 | 0.1111 | 36 | c.382 others(53): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 26/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215134288 | G | GTATATGT others(29): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00741.hp2 HG01123.hp2 others(25): Show |
a0001a0002a0003others(4): Show | a0001c0004a0001c0005a0001c0011others(11): Show | a0001c0004t0001a0001c0005t0005a0001c0011t0001others(14): Show | a0001c0004t0001g0091 a0001c0004t0001g0092 a0001c0005t0005g0109 others(25): Show |
28 | 193 | 0.1451 | 36 | c.69+ others(51): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215134407 | T | TGTATATA others(29): Show |
intron_variant | MODIFIER | HG02572.hp2 NA19007.hp1 NA19066.hp2 |
a0001a0006 | a0001c0002a0001c0003a0006c0063 | a0001c0002t0001a0001c0003t0001a0006c0063t0003 | a0001c0002t0001g0058 a0001c0003t0001g0036 a0006c0063t0003g0079 |
3 | 191 | 0.0157 | 36 | c.69+ others(51): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69273447 | C | CTATTTAT others(29): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0002 | a0002c0001 | a0002c0001t0004 | a0002c0001t0004g0176 | 1 | 18 | 0.0556 | 36 | c.276 others(53): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 20/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69298316 | G | GAGGAAGG others(29): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0327 | 1 | 68 | 0.0147 | 36 | c.126 others(53): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69303807 | T | TATATATA others(29): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01346.hp2 HG01515.hp1 others(7): Show |
a0001 | a0001c0002a0001c0006a0001c0008 | a0001c0002t0001a0001c0006t0007a0001c0008t0001 | a0001c0002t0001g0044 a0001c0002t0001g0065 a0001c0002t0001g0090 others(7): Show |
10 | 241 | 0.0415 | 36 | c.930 others(51): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69303827 | T | TACACACA others(29): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 |
a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0323 a0001c0004t0005g0324 |
2 | 286 | 0.0070 | 36 | c.930 others(51): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69086486 | A | AATATATA others(29): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0200 | 1 | 44 | 0.0227 | 36 | c.393 others(53): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 30/38 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68887911 | T | TATATATA others(29): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 88 | 0.0114 | 36 | c.314 others(53): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 24/39 | chr17 | TogoVar | |||||||
ABCC1_chr16_15944616_16148053 | 15999836 | C | CTCTCTCT others(29): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 104 | 0.0096 | 36 | c.49- others(51): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 15999836 | C | CTCTTTCT others(29): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0004 | a0004c0025 | a0004c0025t0006 | a0004c0025t0006g0001 | 1 | 104 | 0.0096 | 36 | c.49- others(51): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 16124335 | G | GTGTGTGT others(29): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02970.hp1 HG03540.hp2 |
a0001a0009 | a0001c0001a0001c0003a0009c0027 | a0001c0001t0004a0001c0003t0003a0009c0027t0001 | a0001c0001t0004g0109 a0001c0003t0003g0161 a0009c0027t0001g0029 |
3 | 149 | 0.0201 | 36 | c.359 others(53): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 24/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCC2_chr10_99777640_99857594 | 99778449 | C | CAGAGAGA others(29): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 HG01891.hp2 HG02970.hp1 others(1): Show |
a0001a0007 | a0001c0001a0001c0017a0007c0009 | a0001c0001t0001a0001c0017t0001a0007c0009t0001 | a0001c0001t0001g0164 a0001c0017t0001g0167 a0007c0009t0001g0157 others(1): Show |
4 | 125 | 0.0320 | 36 | c.-43 others(47): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 4190 | chr10 | TogoVar | |||||||
ABCC2_chr10_99777640_99857594 | 99778449 | C | CAGAGAGA others(29): Show |
upstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 122 | 0.0082 | 36 | c.-43 others(47): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 4190 | chr10 | TogoVar | |||||||
ABCC2_chr10_99777640_99857594 | 99814183 | G | GTATACAC others(29): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0035 | a0001c0035t0002 | a0001c0035t0002g0046 | 1 | 236 | 0.0042 | 36 | c.209 others(55): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 16/31 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ABCC2_chr10_99777640_99857594 | 99814256 | T | TACACACA others(29): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 324 | 0.0031 | 36 | c.209 others(55): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 16/31 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ABCC2_chr10_99777640_99857594 | 99814525 | A | ATATACAC others(29): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02717.hp2 |
a0010 | a0010c0015 | a0010c0015t0001 | a0010c0015t0001g0016 a0010c0015t0001g0017 |
2 | 201 | 0.0100 | 36 | c.209 others(55): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 16/31 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ABCC3_chr17_50629881_50697253 | 50673978 | T | TTCTTTCT others(29): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 273 | 0.0037 | 36 | c.259 others(53): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ABCC3_chr17_50629881_50697253 | 50674034 | C | CTCTTTCT others(29): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 102 | 0.0098 | 36 | c.259 others(53): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ABCC6_chr16_16144565_16228494 | 16172318 | T | TGGGTGGG others(29): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0043 | a0043c0063 | a0043c0063t0001 | a0043c0063t0001g0171 | 1 | 90 | 0.0111 | 36 | c.278 others(53): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 21/30 | chr16 | TogoVar | |||||||
ABCC6_chr16_16144565_16228494 | 16172318 | T | TGGGTGGG others(29): Show |
intron_variant | MODIFIER | NA18949.hp2 NA18971.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0313 a0001c0001t0001g0337 |
2 | 91 | 0.0220 | 36 | c.278 others(53): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 21/30 | chr16 | TogoVar | |||||||
ABCC6_chr16_16144565_16228494 | 16172318 | T | TGGGTGGG others(29): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00558.hp2 others(67): Show |
a0001a0002a0007others(8): Show | a0001c0001a0001c0004a0001c0006others(17): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(19): Show | a0001c0001t0001g0129 a0001c0001t0001g0136 a0001c0001t0001g0137 others(67): Show |
70 | 159 | 0.4403 | 36 | c.278 others(53): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 21/30 | chr16 | TogoVar | |||||||
ABCC6_chr16_16144565_16228494 | 16172318 | T | TGGGTGGG others(29): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0035 | a0035c0060 | a0035c0060t0010 | a0035c0060t0010g0240 | 1 | 90 | 0.0111 | 36 | c.278 others(53): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 21/30 | chr16 | TogoVar | |||||||
ABCG1_chr21_42214140_42302244 | 42245818 | T | TGGGGCAC others(29): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(141): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0085 others(136): Show |
144 | 349 | 0.4126 | 36 | c.286 others(55): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ABCG1_chr21_42214140_42302244 | 42299528 | C | CCATCCCC others(29): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0005 | a0001c0005t0008 | a0001c0005t0008g0131 | 1 | 352 | 0.0028 | 36 | c.*31 others(47): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 2285 | chr21 | TogoVar | |||||||
ABCG2_chr4_88085269_88163639 | 88115232 | G | GTCTCTCT others(29): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01256.hp2 HG01943.hp2 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0001a0002c0002t0002a0002c0004t0001others(2): Show | a0001c0001t0001g0176 a0001c0001t0001g0219 a0001c0001t0001g0238 others(6): Show |
9 | 221 | 0.0407 | 36 | c.842 others(51): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 7/15 | chr4 | TogoVar | |||||||
ABCG2_chr4_88085269_88163639 | 88115256 | C | CTCTCTCT others(29): Show |
intron_variant | MODIFIER | HG02055.hp2 NA18965.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0204 |
2 | 169 | 0.0118 | 36 | c.842 others(51): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 7/15 | chr4 | TogoVar | |||||||
ABCG2_chr4_88085269_88163639 | 88115256 | C | CTCTCTCT others(29): Show |
intron_variant | MODIFIER | HG01257.hp1 HG02004.hp2 HG04115.hp1 others(3): Show |
a0001a0003a0008 | a0001c0001a0003c0003a0008c0008 | a0001c0001t0001a0001c0001t0004a0003c0003t0001others(1): Show | a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0230 others(3): Show |
6 | 173 | 0.0347 | 36 | c.842 others(51): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 7/15 | chr4 | TogoVar | |||||||
ABCG2_chr4_88085269_88163639 | 88115256 | C | CTCTCTCT others(29): Show |
intron_variant | MODIFIER | NA18951.hp1 NA18970.hp2 NA18979.hp1 others(7): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0007a0002c0002t0001others(2): Show | a0001c0001t0001g0185 a0001c0001t0007g0343 a0002c0002t0001g0047 others(7): Show |
10 | 177 | 0.0565 | 36 | c.842 others(51): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 7/15 | chr4 | TogoVar | |||||||
ABCG2_chr4_88085269_88163639 | 88115256 | C | CTCTCTCT others(29): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01346.hp1 NA18960.hp2 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0001a0002c0002t0002a0002c0004t0001others(1): Show | a0001c0001t0001g0184 a0001c0001t0001g0226 a0002c0002t0002g0052 others(2): Show |
5 | 172 | 0.0291 | 36 | c.842 others(51): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 7/15 | chr4 | TogoVar | |||||||
ABCG2_chr4_88085269_88163639 | 88147016 | G | GGAAAGAA others(29): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01261.hp2 HG01516.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0071 a0001c0001t0001g0126 a0001c0001t0001g0127 others(11): Show |
14 | 143 | 0.0979 | 36 | c.-19 others(53): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 1/15 | chr4 | TogoVar |