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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A2M_chr12_9062708_9120919 | 9120852 | C | CATGTGTG others(19): Show |
upstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0022 | a0001c0022t0002 | a0001c0022t0002g0039 | 1 | 79 | 0.0127 | 26 | c.-50 others(37): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 4934 | chr12 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42703106 | C | CTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02630.hp2 HG02922.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0004a0002c0003t0001 | a0001c0001t0004g0263 a0001c0001t0004g0267 a0002c0003t0001g0357 others(2): Show |
5 | 16 | 0.3125 | 26 | c.-18 others(45): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
AADACL4_chr1_12639085_12672076 | 12658166 | T | TTCTTTCT others(19): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03041.hp1 HG03486.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0004 | a0001c0001t0001g0139 a0001c0001t0002g0051 a0001c0001t0002g0064 others(1): Show |
4 | 270 | 0.0148 | 26 | c.386 others(43): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AAGAB_chr15_67195667_67259661 | 67195670 | C | CCCACAGG others(19): Show |
downstream_gene_variant | MODIFIER | HG02155.hp1 | a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0155 | 1 | 378 | 0.0026 | 26 | c.*71 others(37): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 4996 | chr15 | TogoVar | |||||||
AAGAB_chr15_67195667_67259661 | 67222242 | G | GCACACAC others(19): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0183 | 1 | 244 | 0.0041 | 26 | c.535 others(43): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | chr15 | TogoVar | |||||||
AAGAB_chr15_67195667_67259661 | 67222242 | G | GCGCACAC others(19): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0157 | 1 | 244 | 0.0041 | 26 | c.535 others(43): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | chr15 | TogoVar | |||||||
AAGAB_chr15_67195667_67259661 | 67222282 | A | ACACACAC others(19): Show |
intron_variant | MODIFIER | HG02004.hp1 HG02486.hp2 NA18943.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0023 a0002c0002t0003g0139 a0002c0002t0003g0163 others(4): Show |
7 | 277 | 0.0253 | 26 | c.535 others(43): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | chr15 | TogoVar | |||||||
AAGAB_chr15_67195667_67259661 | 67241040 | T | TACACACA others(19): Show |
intron_variant | MODIFIER | NA18991.hp2 NA19086.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0209 a0001c0001t0005g0210 |
2 | 8 | 0.2500 | 26 | c.74- others(41): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 1/9 | chr15 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69493158 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG00323.hp2 HG03654.hp1 HG04228.hp1 |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0134a0001c0004t0148a0002c0002t0045 | a0001c0001t0134g0229 a0001c0004t0148g0296 a0002c0002t0045g0048 |
3 | 72 | 0.0417 | 26 | c.236 others(45): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69500698 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0002 | a0002c0002 | a0002c0002t0015 | a0002c0002t0015g0004 | 1 | 96 | 0.0104 | 26 | c.227 others(45): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | chr2 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70293597 | A | ATTTTTTT others(19): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 HG02615.hp1 HG02615.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0057 others(6): Show |
9 | 98 | 0.0918 | 26 | c.-41 others(37): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4092 | chr16 | TogoVar | |||||||
AASDH_chr4_56333290_56392491 | 56381649 | T | TCTCTCAC others(19): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 121 | 0.0083 | 26 | c.351 others(41): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 3/14 | chr4 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81119240 | A | AGGAGCGG others(19): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0075 | 1 | 366 | 0.0027 | 26 | c.408 others(43): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 13/13 | chr17 | TogoVar | |||||||
ABAT_chr16_8669617_8789570 | 8710727 | A | AGAGAGAG others(19): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG01099.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0031 a0001c0001t0001g0155 a0001c0001t0001g0248 others(14): Show |
17 | 118 | 0.1441 | 26 | c.-41 others(45): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8723809 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0057 | 1 | 308 | 0.0032 | 26 | c.-41 others(45): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8743444 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG02132.hp2 HG04184.hp2 |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0004t0001 | a0002c0002t0001g0077 a0002c0004t0001g0115 |
2 | 100 | 0.0200 | 26 | c.71- others(41): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8743444 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG02132.hp1 HG02895.hp1 HG02897.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0006a0002c0002t0002a0002c0002t0045others(1): Show | a0001c0001t0006g0298 a0001c0001t0006g0307 a0002c0002t0002g0053 others(2): Show |
5 | 103 | 0.0485 | 26 | c.71- others(41): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69210847 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02004.hp2 HG02559.hp2 others(3): Show |
a0004a0005a0009 | a0004c0006a0005c0013a0005c0014others(1): Show | a0004c0006t0003a0005c0013t0001a0005c0014t0001others(1): Show | a0004c0006t0003g0053 a0004c0006t0003g0057 a0005c0013t0001g0052 others(3): Show |
6 | 249 | 0.0241 | 26 | c.100 others(45): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214989187 | C | CATACATA others(19): Show |
intron_variant | MODIFIER | HG01070.hp1 HG02132.hp2 HG03540.hp1 others(2): Show |
a0001 | a0001c0001a0001c0029 | a0001c0001t0002a0001c0001t0012a0001c0001t0013others(1): Show | a0001c0001t0002g0032 a0001c0001t0002g0035 a0001c0001t0012g0191 others(2): Show |
5 | 29 | 0.1724 | 26 | c.382 others(43): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 26/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214989187 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02630.hp2 HG02809.hp1 others(1): Show |
a0001a0004a0013 | a0001c0010a0001c0041a0004c0018others(1): Show | a0001c0010t0003a0001c0041t0003a0004c0018t0005others(1): Show | a0001c0010t0003g0143 a0001c0041t0003g0164 a0004c0018t0005g0095 others(1): Show |
4 | 28 | 0.1429 | 26 | c.382 others(43): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 26/52 | chr2 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48232139 | A | ATTTTTTT others(19): Show |
intron_variant | MODIFIER | HG04204.hp2 NA18959.hp1 NA18998.hp2 others(1): Show |
a0008a0012a0079others(1): Show | a0008c0013a0012c0012a0079c0108others(1): Show | a0008c0013t0002a0012c0012t0002a0079c0108t0001others(1): Show | a0008c0013t0002g0089 a0012c0012t0002g0056 a0079c0108t0001g0113 others(1): Show |
4 | 6 | 0.6667 | 26 | c.764 others(43): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 7/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104862689 | C | CCACCCCC others(19): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0158 | 1 | 205 | 0.0049 | 26 | c.422 others(41): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104862696 | G | GCCCCCAA others(19): Show |
intron_variant | MODIFIER | HG03490.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0219 a0001c0001t0023g0220 |
2 | 169 | 0.0118 | 26 | c.422 others(41): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104862701 | G | GGCAGGGC others(19): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0012 | a0012c0010 | a0012c0010t0037 | a0012c0010t0037g0236 | 1 | 90 | 0.0111 | 26 | c.422 others(41): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104882028 | T | TAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG03927.hp2 NA19007.hp1 |
a0004a0005 | a0004c0008a0005c0014 | a0004c0008t0004a0005c0014t0003 | a0004c0008t0004g0178 a0005c0014t0003g0299 |
2 | 22 | 0.0909 | 26 | c.421 others(42): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69298314 | G | GGAAGGAA others(19): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02027.hp2 HG02083.hp2 others(18): Show |
a0002a0010 | a0002c0001a0010c0014 | a0002c0001t0002a0002c0001t0009a0002c0001t0011others(1): Show | a0002c0001t0002g0241 a0002c0001t0002g0246 a0002c0001t0002g0252 others(18): Show |
21 | 257 | 0.0817 | 26 | c.126 others(43): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69303785 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0159 | 1 | 237 | 0.0042 | 26 | c.931 others(41): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69303793 | T | TATACACA others(19): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01070.hp1 HG01516.hp2 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0016 a0003c0003t0003g0033 a0003c0003t0003g0036 others(1): Show |
4 | 298 | 0.0134 | 26 | c.930 others(41): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69303807 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG00408.hp1 HG03704.hp1 NA18952.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0059 a0001c0002t0001g0086 a0001c0002t0001g0126 others(5): Show |
8 | 239 | 0.0335 | 26 | c.930 others(41): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | |||||||
ABCA7_chr19_1035107_1070572 | 1049515 | A | AACCCCCC others(19): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0017 | 1 | 19 | 0.0526 | 26 | c.255 others(41): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68887911 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG02135.hp1 HG03239.hp1 HG03490.hp2 others(8): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(1): Show | a0001c0001t0001g0017 a0001c0001t0001g0217 a0001c0001t0001g0221 others(8): Show |
11 | 98 | 0.1122 | 26 | c.314 others(43): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 24/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68935262 | T | TTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02818.hp1 HG02976.hp1 others(2): Show |
a0001a0032 | a0001c0005a0001c0011a0032c0021 | a0001c0005t0001a0001c0011t0001a0032c0021t0001 | a0001c0005t0001g0141 a0001c0005t0001g0145 a0001c0005t0001g0147 others(2): Show |
5 | 30 | 0.1667 | 26 | c.466 others(43): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 5/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68935540 | C | CTATATAT others(19): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0049 | 1 | 91 | 0.0110 | 26 | c.466 others(43): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 5/39 | chr17 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975259 | A | ATAGATAA others(19): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0025 | a0002c0025t0004 | a0002c0025t0004g0230 | 1 | 269 | 0.0037 | 26 | c.130 others(45): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975408 | T | TATAAATA others(19): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0028 | a0002c0028t0001 | a0002c0028t0001g0300 | 1 | 290 | 0.0034 | 26 | c.130 others(45): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABCB1_chr7_87498017_87605884 | 87502516 | T | TTATATAT others(19): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG01069.hp2 HG01070.hp1 others(16): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0025others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0005t0001others(4): Show | a0001c0001t0001g0198 a0001c0001t0001g0239 a0001c0001t0001g0250 others(12): Show |
19 | 341 | 0.0557 | 26 | c.*17 others(37): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 500 | chr7 | TogoVar | |||||||
ABCB1_chr7_87498017_87605884 | 87568266 | T | TAATAATA others(19): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0258 | 1 | 283 | 0.0035 | 26 | c.339 others(43): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 5/27 | chr7 | TogoVar | |||||||
ABCB1_chr7_87498017_87605884 | 87589805 | G | GGAGAGAG others(19): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0089 a0001c0001t0004g0100 |
2 | 202 | 0.0099 | 26 | c.118 others(43): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 3/27 | chr7 | TogoVar | |||||||
ABCB5_chr7_20610667_20762008 | 20709110 | T | TCTGTAAC others(19): Show |
intron_variant | MODIFIER | NA18940.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0040 | 1 | 358 | 0.0028 | 26 | c.242 others(45): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20711776 | T | TTCTCTCT others(19): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01943.hp2 HG01981.hp2 others(3): Show |
a0002a0004a0005others(2): Show | a0002c0003a0004c0008a0005c0006others(2): Show | a0002c0003t0003a0004c0008t0002a0005c0006t0001others(2): Show | a0002c0003t0003g0028 a0002c0003t0003g0050 a0004c0008t0002g0225 others(3): Show |
6 | 176 | 0.0341 | 26 | c.242 others(45): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB7_chrX_75046048_75161283 | 75122861 | G | GGTGTGTG others(19): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0026 | 1 | 10 | 0.1000 | 26 | c.169 others(43): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 1/15 | chrX | TogoVar | |||||||
ABCC1_chr16_15944616_16148053 | 16006871 | C | CGGTGGCG others(19): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0201 | 1 | 185 | 0.0054 | 26 | c.49- others(39): 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(19): Show |
intron_variant | MODIFIER | HG03579.hp1 HG03579.hp2 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0008a0001c0008t0009 | a0001c0001t0008g0181 a0001c0008t0009g0182 |
2 | 148 | 0.0135 | 26 | c.359 others(43): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 24/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 16124337 | G | GTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG03195.hp1 NA19043.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0031 a0001c0007t0001g0026 |
2 | 119 | 0.0168 | 26 | c.359 others(43): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 24/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 16143530 | C | CTTTTTTT others(19): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 HG01261.hp1 HG02148.hp1 others(4): Show |
a0001a0002 | a0001c0004a0001c0006a0001c0028others(2): Show | a0001c0004t0002a0001c0006t0002a0001c0028t0002others(2): Show | a0001c0004t0002g0158 a0001c0004t0002g0201 a0001c0006t0002g0053 others(4): Show |
7 | 54 | 0.1296 | 26 | c.*22 others(37): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 478 | chr16 | TogoVar | |||||||
ABCC2_chr10_99777640_99857594 | 99778433 | T | TAGAGAGA others(19): Show |
upstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0130 | 1 | 221 | 0.0045 | 26 | c.-44 others(37): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 4206 | chr10 | TogoVar | |||||||
ABCC2_chr10_99777640_99857594 | 99778433 | T | TATAGAGA others(19): Show |
upstream_gene_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235 | 1 | 221 | 0.0045 | 26 | c.-44 others(37): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 4206 | chr10 | TogoVar | |||||||
ABCC2_chr10_99777640_99857594 | 99778449 | C | CAGAGAGA others(19): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00423.hp1 others(86): Show |
a0001a0002a0008others(4): Show | a0001c0001a0001c0030a0002c0003others(6): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(10): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0218 others(83): Show |
89 | 210 | 0.4238 | 26 | c.-43 others(37): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 4190 | chr10 | TogoVar | |||||||
ABCC2_chr10_99777640_99857594 | 99778451 | G | GAGAGAGA others(19): Show |
upstream_gene_variant | MODIFIER | NA18942.hp1 NA18963.hp2 NA18970.hp2 others(1): Show |
a0001a0025 | a0001c0001a0025c0037 | a0001c0001t0001a0025c0037t0001 | a0001c0001t0001g0143 a0001c0001t0001g0173 a0001c0001t0001g0181 others(1): Show |
4 | 333 | 0.0120 | 26 | c.-43 others(37): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 4188 | chr10 | TogoVar | |||||||
ABCC2_chr10_99777640_99857594 | 99814525 | A | ATATACAC others(19): Show |
intron_variant | MODIFIER | HG06807.hp1 NA18953.hp1 NA18954.hp1 others(4): Show |
a0001a0002a0028 | a0001c0001a0002c0003a0028c0039 | a0001c0001t0001a0002c0003t0001a0028c0039t0001 | a0001c0001t0001g0196 a0002c0003t0001g0229 a0002c0003t0001g0230 others(4): Show |
7 | 206 | 0.0340 | 26 | c.209 others(45): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 16/31 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |