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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANAPC7_chr12_110367900_110408708 | 110387291 | G | GAGAGAC | intron_variant | MODIFIER | HG01258.hp2 HG02258.hp1 NA19054.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 a0001c0001t0001g0220 a0001c0001t0001g0226 |
3 | 274 | 0.0109 | 6 | c.674 others(21): Show |
ANAPC7 | ENSG00000196510.14 | transcript | ENST00000455511.9 | protein_coding | 5/10 | chr12 | TogoVar | |||||||
ANAPC7_chr12_110367900_110408708 | 110387383 | C | CAGAGAG | intron_variant | MODIFIER | HG00621.hp1 HG02080.hp1 HG03831.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0204 others(1): Show |
4 | 92 | 0.0435 | 6 | c.674 others(21): Show |
ANAPC7 | ENSG00000196510.14 | transcript | ENST00000455511.9 | protein_coding | 5/10 | chr12 | TogoVar | |||||||
ANGEL1_chr14_76781009_76817882 | 76799278 | C | CTTTTTT | intron_variant | MODIFIER | HG01167.hp2 HG01175.hp2 HG01243.hp2 others(23): Show |
a0002a0006 | a0002c0002a0006c0010 | a0002c0002t0003a0006c0010t0003 | a0002c0002t0003g0002 a0002c0002t0003g0046 a0002c0002t0003g0221 others(15): Show |
26 | 46 | 0.5652 | 6 | c.161 others(25): Show |
ANGEL1 | ENSG00000013523.11 | transcript | ENST00000251089.8 | protein_coding | 7/9 | chr14 | TogoVar | |||||||
ANGEL1_chr14_76781009_76817882 | 76799330 | G | GTCGCCC | intron_variant | MODIFIER | HG00642.hp2 HG00673.hp1 HG00735.hp1 others(53): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0012a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0021others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0026 others(36): Show |
56 | 394 | 0.1421 | 6 | c.161 others(25): Show |
ANGEL1 | ENSG00000013523.11 | transcript | ENST00000251089.8 | protein_coding | 7/9 | chr14 | TogoVar | |||||||
ANGEL2_chr1_212987182_213020867 | 212996622 | C | CAAAAAA | intron_variant | MODIFIER | HG00639.hp2 HG01258.hp2 HG02451.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0053 a0001c0001t0003g0203 a0001c0001t0003g0204 others(4): Show |
8 | 366 | 0.0219 | 6 | c.148 others(23): Show |
ANGEL2 | ENSG00000174606.14 | transcript | ENST00000366962.8 | protein_coding | 8/8 | chr1 | TogoVar | |||||||
ANGEL2_chr1_212987182_213020867 | 213018750 | A | AAATAAT | upstream_gene_variant | MODIFIER | HG02071.hp2 NA18947.hp2 NA19058.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0082 a0001c0001t0004g0004 |
3 | 261 | 0.0115 | 6 | c.-30 others(17): Show |
ANGEL2 | ENSG00000174606.14 | transcript | ENST00000366962.8 | protein_coding | 2884 | chr1 | TogoVar | |||||||
ANGPT1_chr8_107244482_107502918 | 107257926 | T | TTCTCTC | intron_variant | MODIFIER | HG02258.hp2 HG02818.hp1 HG02895.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0024 | a0001c0001t0002g0003 a0001c0001t0002g0100 a0001c0001t0002g0161 others(4): Show |
7 | 63 | 0.1111 | 6 | c.133 others(25): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 8/8 | chr8 | TogoVar | |||||||
ANGPT1_chr8_107244482_107502918 | 107268406 | T | TTGTGTG | intron_variant | MODIFIER | HG00738.hp2 HG01175.hp2 HG02145.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0015others(1): Show | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 others(10): Show |
13 | 114 | 0.1140 | 6 | c.120 others(25): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 7/8 | chr8 | TogoVar | |||||||
ANGPT1_chr8_107244482_107502918 | 107279746 | T | TACACAC | intron_variant | MODIFIER | HG02109.hp1 HG02145.hp1 HG02622.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0095 a0001c0001t0004g0067 a0001c0001t0004g0096 others(3): Show |
6 | 226 | 0.0265 | 6 | c.120 others(25): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 7/8 | chr8 | TogoVar | |||||||
ANGPT1_chr8_107244482_107502918 | 107282553 | C | CATATAT | intron_variant | MODIFIER | HG00621.hp1 HG00639.hp2 HG00735.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0080 a0001c0001t0001g0125 a0001c0001t0001g0130 others(9): Show |
12 | 79 | 0.1519 | 6 | c.120 others(25): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 7/8 | chr8 | TogoVar | |||||||
ANGPT1_chr8_107244482_107502918 | 107293197 | G | GTGATGA | intron_variant | MODIFIER | HG00621.hp2 HG02735.hp2 HG02886.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012a0001c0001t0014 | a0001c0001t0002g0029 a0001c0001t0002g0211 a0001c0001t0012g0060 others(3): Show |
6 | 29 | 0.2069 | 6 | c.103 others(23): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 6/8 | chr8 | TogoVar | |||||||
ANGPT1_chr8_107244482_107502918 | 107299391 | G | GTATATA | intron_variant | MODIFIER | HG02080.hp2 HG02109.hp2 HG02155.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0053 a0001c0001t0001g0135 others(7): Show |
10 | 70 | 0.1429 | 6 | c.936 others(23): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 5/8 | chr8 | TogoVar | |||||||
ANGPT1_chr8_107244482_107502918 | 107299420 | T | TATATAA | intron_variant | MODIFIER | HG01099.hp2 HG01175.hp2 HG02280.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(1): Show | a0001c0001t0001g0097 a0001c0001t0002g0191 a0001c0001t0015g0063 others(1): Show |
4 | 272 | 0.0147 | 6 | c.936 others(23): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 5/8 | chr8 | TogoVar | |||||||
ANGPT1_chr8_107244482_107502918 | 107342782 | T | TACACAC | intron_variant | MODIFIER | HG00735.hp1 HG01256.hp1 HG01258.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0097 others(2): Show |
5 | 29 | 0.1724 | 6 | c.453 others(23): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
ANGPT1_chr8_107244482_107502918 | 107365856 | A | AACACAC | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00597.hp1 others(55): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0024 others(54): Show |
58 | 89 | 0.6517 | 6 | c.298 others(25): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
ANGPT1_chr8_107244482_107502918 | 107365890 | C | CACACAT | intron_variant | MODIFIER | HG00735.hp1 HG01981.hp2 HG01993.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 a0001c0001t0001g0142 a0001c0001t0001g0149 |
3 | 290 | 0.0103 | 6 | c.298 others(25): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
ANGPT1_chr8_107244482_107502918 | 107380359 | T | TTGTGTG | intron_variant | MODIFIER | HG01109.hp1 HG02630.hp1 HG02818.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0075 a0001c0001t0002g0161 a0001c0001t0002g0163 others(7): Show |
10 | 30 | 0.3333 | 6 | c.298 others(25): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
ANGPT1_chr8_107244482_107502918 | 107431364 | A | AGAGGAG | intron_variant | MODIFIER | HG00544.hp1 HG01074.hp1 HG01123.hp1 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0151 a0001c0001t0001g0223 a0001c0001t0001g0256 others(36): Show |
39 | 290 | 0.1345 | 6 | c.297 others(25): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
ANGPT1_chr8_107244482_107502918 | 107449400 | G | GCACACA | intron_variant | MODIFIER | HG01074.hp1 HG01081.hp2 HG01167.hp1 others(17): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0012 others(17): Show |
20 | 82 | 0.2439 | 6 | c.297 others(25): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
ANGPT1_chr8_107244482_107502918 | 107450705 | G | GGTGTGT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(103): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0011 others(102): Show |
106 | 185 | 0.5730 | 6 | c.297 others(25): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
ANGPT1_chr8_107244482_107502918 | 107451316 | G | GACACAC | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(105): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 others(105): Show |
108 | 149 | 0.7248 | 6 | c.297 others(25): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
ANGPT1_chr8_107244482_107502918 | 107457825 | T | TACACAC | intron_variant | MODIFIER | HG01891.hp2 HG02004.hp2 HG02486.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0026 | a0001c0001t0003g0091 a0001c0001t0003g0094 a0001c0001t0026g0092 |
3 | 206 | 0.0146 | 6 | c.297 others(25): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
ANGPT1_chr8_107244482_107502918 | 107459489 | A | AAACAAC | intron_variant | MODIFIER | HG03195.hp1 HG03486.hp1 NA19011.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005 | a0001c0001t0002g0173 a0001c0001t0004g0249 a0001c0001t0005g0250 |
3 | 74 | 0.0405 | 6 | c.297 others(25): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
ANGPT2_chr8_6494632_6568245 | 6505239 | A | AATATAT | intron_variant | MODIFIER | HG02486.hp1 HG02486.hp2 HG02738.hp2 others(4): Show |
a0001 | a0001c0004a0001c0007a0001c0009 | a0001c0004t0012a0001c0007t0004a0001c0007t0005others(2): Show | a0001c0004t0012g0297 a0001c0007t0004g0176 a0001c0007t0004g0210 others(4): Show |
7 | 146 | 0.0479 | 6 | c.132 others(25): Show |
ANGPT2 | ENSG00000091879.14 | transcript | ENST00000629816.3 | protein_coding | 8/8 | chr8 | TogoVar | |||||||
ANGPT2_chr8_6494632_6568245 | 6505976 | T | TTATATA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(209): Show |
a0001a0003a0005others(2): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(59): Show | a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0001g0057 others(208): Show |
212 | 334 | 0.6347 | 6 | c.132 others(25): Show |
ANGPT2 | ENSG00000091879.14 | transcript | ENST00000629816.3 | protein_coding | 8/8 | chr8 | TogoVar | |||||||
ANGPT2_chr8_6494632_6568245 | 6544891 | A | AGATTCT | intron_variant | MODIFIER | HG02818.hp1 HG02922.hp1 HG03098.hp1 others(2): Show |
a0001 | a0001c0006a0001c0007a0001c0014others(1): Show | a0001c0006t0005a0001c0007t0078a0001c0014t0005others(1): Show | a0001c0006t0005g0277 a0001c0007t0078g0334 a0001c0014t0005g0278 others(2): Show |
5 | 334 | 0.0150 | 6 | c.289 others(25): Show |
ANGPT2 | ENSG00000091879.14 | transcript | ENST00000629816.3 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
ANGPT2_chr8_6494632_6568245 | 6557688 | T | TACACAC | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp2 HG00597.hp2 others(43): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0007a0001c0001t0008a0001c0001t0009others(26): Show | a0001c0001t0007g0159 a0001c0001t0008g0004 a0001c0001t0008g0012 others(42): Show |
46 | 90 | 0.5111 | 6 | c.288 others(23): Show |
ANGPT2 | ENSG00000091879.14 | transcript | ENST00000629816.3 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
ANGPT2_chr8_6494632_6568245 | 6559230 | A | AACACAC | intron_variant | MODIFIER | HG00558.hp2 HG02080.hp1 HG02135.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(4): Show | a0001c0001t0001g0106 a0001c0001t0001g0160 a0001c0001t0001g0162 others(12): Show |
15 | 26 | 0.5769 | 6 | c.288 others(23): Show |
ANGPT2 | ENSG00000091879.14 | transcript | ENST00000629816.3 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
ANGPT4_chr20_864900_921334 | 867424 | A | ATGTGTG | downstream_gene_variant | MODIFIER | HG00738.hp1 HG01168.hp2 HG01978.hp2 others(8): Show |
a0001a0007 | a0001c0001a0001c0002a0007c0016 | a0001c0001t0002a0001c0001t0011a0001c0002t0008others(1): Show | a0001c0001t0002g0025 a0001c0001t0002g0065 a0001c0001t0002g0096 others(7): Show |
11 | 213 | 0.0516 | 6 | c.*55 others(17): Show |
ANGPT4 | ENSG00000101280.8 | transcript | ENST00000381922.5 | protein_coding | 2475 | chr20 | TogoVar | |||||||
ANGPT4_chr20_864900_921334 | 867469 | T | TGTGAGA | downstream_gene_variant | MODIFIER | HG00673.hp1 HG04228.hp2 NA18939.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0023 | a0001c0001t0007g0035 a0001c0001t0007g0041 a0001c0001t0007g0074 others(4): Show |
7 | 51 | 0.1373 | 6 | c.*54 others(17): Show |
ANGPT4 | ENSG00000101280.8 | transcript | ENST00000381922.5 | protein_coding | 2430 | chr20 | TogoVar | |||||||
ANGPT4_chr20_864900_921334 | 867469 | T | TGTGTGA | downstream_gene_variant | MODIFIER | HG01099.hp2 HG02055.hp2 HG02723.hp2 others(10): Show |
a0001a0002a0011 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0010 a0001c0001t0001g0354 a0001c0001t0001g0371 others(10): Show |
13 | 57 | 0.2281 | 6 | c.*54 others(17): Show |
ANGPT4 | ENSG00000101280.8 | transcript | ENST00000381922.5 | protein_coding | 2430 | chr20 | TogoVar | |||||||
ANGPTL1_chr1_178844535_178876077 | 178856202 | G | GATATAT | intron_variant | MODIFIER | HG01358.hp1 HG01978.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0017 | a0001c0001t0002g0001 a0001c0001t0002g0146 a0001c0001t0017g0188 |
3 | 146 | 0.0205 | 6 | c.824 others(23): Show |
ANGPTL1 | ENSG00000116194.13 | transcript | ENST00000234816.7 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
ANGPTL4_chr19_8359155_8379370 | 8368024 | C | CTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG01070.hp2 HG01346.hp2 others(7): Show |
a0001a0010 | a0001c0005a0010c0016 | a0001c0005t0001a0010c0016t0001 | a0001c0005t0001g0007 a0001c0005t0001g0080 a0010c0016t0001g0007 |
10 | 265 | 0.0377 | 6 | c.548 others(23): Show |
ANGPTL4 | ENSG00000167772.12 | transcript | ENST00000301455.7 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ANGPTL5_chr11_101885674_101921522 | 101901015 | C | CTTTTTT | intron_variant | MODIFIER | HG02615.hp2 HG02647.hp1 HG03130.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0009 | a0002c0002t0001g0018 a0002c0002t0001g0044 a0002c0002t0001g0182 others(2): Show |
8 | 184 | 0.0435 | 6 | c.541 others(21): Show |
ANGPTL5 | ENSG00000187151.7 | transcript | ENST00000334289.7 | protein_coding | 6/8 | chr11 | TogoVar | |||||||
ANGPTL6_chr19_10087338_10107678 | 10088953 | T | TATAATA | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00639.hp1 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(17): Show |
40 | 224 | 0.1786 | 6 | c.*36 others(17): Show |
ANGPTL6 | ENSG00000130812.11 | transcript | ENST00000253109.5 | protein_coding | 3384 | chr19 | TogoVar | |||||||
ANHX_chr12_133213312_133240877 | 133239641 | C | CTATCTT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(410): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0006a0001c0011others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(29): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(257): Show |
413 | 440 | 0.9386 | 6 | c.-38 others(17): Show |
ANHX | ENSG00000227059.7 | transcript | ENST00000545940.6 | protein_coding | 3765 | chr12 | TogoVar | |||||||
ANK1_chr8_41648225_41802622 | 41655129 | G | GGTGTGT | 3_prime_UTR_variant | MODIFIER | HG01123.hp2 HG01261.hp1 HG06807.hp1 |
a0001a0008 | a0001c0002a0001c0006a0008c0041 | a0001c0002t0012a0001c0006t0018a0008c0041t0012 | a0001c0002t0012g0031 a0001c0006t0018g0118 a0008c0041t0012g0167 |
3 | 17 | 0.1765 | 6 | c.*65 others(15): Show |
ANK1 | ENSG00000029534.22 | transcript | ENST00000289734.13 | protein_coding | 43/43 | 6336 | chr8 | TogoVar | ||||||
ANK1_chr8_41648225_41802622 | 41663098 | G | GTCTCTC | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp2 others(70): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0002a0001c0001t0013a0001c0001t0023others(23): Show | a0001c0001t0002g0010 a0001c0001t0002g0021 a0001c0001t0002g0023 others(69): Show |
73 | 260 | 0.2808 | 6 | c.547 others(23): Show |
ANK1 | ENSG00000029534.22 | transcript | ENST00000289734.13 | protein_coding | 40/42 | chr8 | TogoVar | |||||||
ANK1_chr8_41648225_41802622 | 41663114 | C | CTCTCTG | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(43): Show |
a0001a0003a0011 | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(14): Show | a0001c0001t0001g0149 a0001c0001t0001g0207 a0001c0001t0001g0209 others(43): Show |
46 | 179 | 0.2570 | 6 | c.547 others(23): Show |
ANK1 | ENSG00000029534.22 | transcript | ENST00000289734.13 | protein_coding | 40/42 | chr8 | TogoVar | |||||||
ANK1_chr8_41648225_41802622 | 41663114 | C | CTCTGTG | intron_variant | MODIFIER | HG02015.hp1 HG02572.hp2 HG02630.hp2 others(4): Show |
a0001a0004a0012 | a0001c0001a0004c0011a0004c0020others(1): Show | a0001c0001t0001a0004c0011t0001a0004c0020t0001others(1): Show | a0001c0001t0001g0242 a0004c0011t0001g0185 a0004c0011t0001g0186 others(4): Show |
7 | 140 | 0.0500 | 6 | c.547 others(23): Show |
ANK1 | ENSG00000029534.22 | transcript | ENST00000289734.13 | protein_coding | 40/42 | chr8 | TogoVar | |||||||
ANK2_chr4_113044653_113388736 | 113048248 | G | GTATATA | upstream_gene_variant | MODIFIER | NA18977.hp1 NA18980.hp2 NA18995.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0042 a0001c0001t0001g0044 a0002c0003t0001g0048 |
3 | 77 | 0.0390 | 6 | c.-14 others(17): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 1404 | chr4 | TogoVar | |||||||
ANK2_chr4_113044653_113388736 | 113135521 | C | CTGTGTG | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00558.hp2 others(65): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0007others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0004t0001others(10): Show | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0022 others(65): Show |
68 | 141 | 0.4823 | 6 | c.85- others(23): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 1/45 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ANK2_chr4_113044653_113388736 | 113149874 | C | CAAAAAA | intron_variant | MODIFIER | HG00642.hp2 HG02630.hp1 HG03579.hp1 others(2): Show |
a0001a0002a0017 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0131 a0002c0002t0001g0089 a0002c0003t0001g0115 others(2): Show |
5 | 40 | 0.1250 | 6 | c.85- others(23): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 1/45 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ANK2_chr4_113044653_113388736 | 113159191 | C | CCACACA | intron_variant | MODIFIER | HG01433.hp2 HG01891.hp1 HG02040.hp2 others(25): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0004a0002c0002others(8): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(8): Show | a0001c0001t0001g0030 a0001c0001t0001g0039 a0001c0001t0001g0040 others(25): Show |
28 | 45 | 0.6222 | 6 | c.85- others(23): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 1/45 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ANK2_chr4_113044653_113388736 | 113161695 | C | CGTGTGT | intron_variant | MODIFIER | HG02970.hp2 HG03225.hp2 |
a0001a0002 | a0001c0001a0002c0023 | a0001c0001t0001a0002c0023t0001 | a0001c0001t0001g0099 a0002c0023t0001g0058 |
2 | 81 | 0.0247 | 6 | c.85- others(23): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 1/45 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ANK2_chr4_113044653_113388736 | 113182961 | T | TGAGAGA | intron_variant | MODIFIER | HG00639.hp1 HG01255.hp2 HG01884.hp2 others(10): Show |
a0001a0002a0011 | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0015 a0001c0001t0001g0046 a0001c0001t0001g0078 others(10): Show |
13 | 176 | 0.0739 | 6 | c.186 others(23): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 2/45 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ANK2_chr4_113044653_113388736 | 113233106 | G | GTTTTTT | intron_variant | MODIFIER | HG01346.hp1 HG02293.hp1 HG02572.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0030 a0001c0001t0001g0043 a0001c0001t0001g0158 others(2): Show |
5 | 154 | 0.0325 | 6 | c.483 others(21): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 5/45 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ANK2_chr4_113044653_113388736 | 113271479 | G | GACACAC | intron_variant | MODIFIER | HG00323.hp1 HG00609.hp1 HG00738.hp1 others(23): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0002c0003others(4): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0004others(5): Show | a0001c0001t0001g0027 a0001c0001t0001g0044 a0001c0001t0001g0073 others(23): Show |
26 | 76 | 0.3421 | 6 | c.148 others(25): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 14/45 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ANK2_chr4_113044653_113388736 | 113299319 | G | GGACAAA | intron_variant | MODIFIER | HG01884.hp2 HG03453.hp1 |
a0002a0003 | a0002c0035a0003c0034 | a0002c0035t0001a0003c0034t0001 | a0002c0035t0001g0169 a0003c0034t0001g0056 |
2 | 176 | 0.0114 | 6 | c.247 others(25): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 22/45 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ANK2_chr4_113044653_113388736 | 113333298 | A | ATGTGTG | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02559.hp2 others(3): Show |
a0004a0017 | a0004c0005a0017c0028 | a0004c0005t0001a0017c0028t0001 | a0004c0005t0001g0019 a0004c0005t0001g0068 a0004c0005t0001g0072 others(3): Show |
6 | 114 | 0.0526 | 6 | c.337 others(23): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 29/45 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |