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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LCN15_chr9_136754634_136769518 | 136769220 | CCCCCCGC others(111): Show |
C | upstream_gene_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 356 | 0.0028 | -118 | c.-48 others(11): Show |
LCN15 | ENSG00000177984.7 | transcript | ENST00000316144.6 | protein_coding | 4703 | chr9 | TogoVar | |||||||
LGR5_chr12_71434798_71591310 | 71564466 | ACGTAACT others(111): Show |
A | intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0016 | 1 | 200 | 0.0050 | -118 | c.858 others(17): Show |
LGR5 | ENSG00000139292.13 | transcript | ENST00000266674.10 | protein_coding | 8/17 | chr12 | TogoVar | |||||||
LILRA5_chr19_54302070_54318166 | 54306364 | TGGGCAGA others(111): Show |
T | downstream_gene_variant | MODIFIER | HG02109.hp2 HG03130.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 a0001c0001t0001g0147 a0001c0001t0001g0148 |
3 | 409 | 0.0073 | -118 | c.*93 others(10): Show |
LILRA5 | ENSG00000187116.14 | transcript | ENST00000432233.8 | protein_coding | 705 | chr19 | TogoVar | |||||||
LMCD1_chr3_8496823_8579668 | 8502269 | ATATATAT others(111): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02559.hp1 HG02895.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 others(4): Show |
7 | 314 | 0.0223 | -118 | c.42+ others(13): Show |
LMCD1 | ENSG00000071282.12 | transcript | ENST00000157600.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 930147 | GGGGGCGC others(111): Show |
G | intron_variant | MODIFIER | HG00741.hp2 HG01071.hp1 HG01074.hp1 others(11): Show |
a0001a0002a0004others(4): Show | a0001c0010a0001c0034a0002c0007others(6): Show | a0001c0010t0001a0001c0034t0001a0002c0007t0001others(6): Show | a0001c0010t0001g0115 a0001c0010t0001g0271 a0001c0010t0001g0272 others(11): Show |
14 | 294 | 0.0476 | -118 | c.514 others(17): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | |||||||
LRCH2_chrX_115105616_115239096 | 115125501 | ATATATAT others(111): Show |
A | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0208 | 1 | 238 | 0.0042 | -118 | c.179 others(19): Show |
LRCH2 | ENSG00000130224.15 | transcript | ENST00000317135.13 | protein_coding | 16/20 | chrX | TogoVar | |||||||
LRRC24_chr8_144517388_144532033 | 144531191 | AGAGCAGC others(111): Show |
A | upstream_gene_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 398 | 0.0025 | -118 | c.-44 others(11): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4159 | chr8 | TogoVar | |||||||
LRRC24_chr8_144517388_144532033 | 144531210 | GGGCTAGA others(111): Show |
G | upstream_gene_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 398 | 0.0025 | -118 | c.-44 others(11): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4178 | chr8 | TogoVar | |||||||
LRRC24_chr8_144517388_144532033 | 144531564 | GGGCTAGA others(111): Show |
G | upstream_gene_variant | MODIFIER | HG02027.hp1 HG03239.hp1 HG03834.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0003 a0002c0002t0001g0001 |
6 | 398 | 0.0151 | -118 | c.-47 others(11): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4532 | chr8 | TogoVar | |||||||
MAFG_chr17_81913270_81932735 | 81929841 | GGGCATCC others(111): Show |
G | upstream_gene_variant | MODIFIER | HG01891.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0035 | 2 | 356 | 0.0056 | -118 | c.-24 others(11): Show |
MAFG | ENSG00000197063.11 | transcript | ENST00000357736.9 | protein_coding | 2107 | chr17 | TogoVar | |||||||
MAFG_chr17_81913270_81932735 | 81929882 | CCCCCGCA others(111): Show |
C | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02280.hp2 HG02630.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0046 a0001c0001t0001g0047 |
6 | 356 | 0.0169 | -118 | c.-25 others(11): Show |
MAFG | ENSG00000197063.11 | transcript | ENST00000357736.9 | protein_coding | 2148 | chr17 | TogoVar | |||||||
MAFG_chr17_81913270_81932735 | 81929905 | CCCTCCCG others(111): Show |
C | upstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0106 | 1 | 356 | 0.0028 | -118 | c.-25 others(11): Show |
MAFG | ENSG00000197063.11 | transcript | ENST00000357736.9 | protein_coding | 2171 | chr17 | TogoVar | |||||||
MAGI2_chr7_78012055_79458667 | 79135950 | AGAAAGAA others(111): Show |
A | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0005 | 1 | 40 | 0.0250 | -118 | c.302 others(21): Show |
MAGI2 | ENSG00000187391.23 | transcript | ENST00000354212.9 | protein_coding | 1/21 | chr7 | TogoVar | |||||||
MAP2K2_chr19_4085321_4129122 | 4123514 | CCCCCCTG others(111): Show |
C | intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0031 | 1 | 330 | 0.0030 | -118 | c.92+ others(13): Show |
MAP2K2 | ENSG00000126934.15 | transcript | ENST00000262948.10 | protein_coding | 1/10 | chr19 | TogoVar | |||||||
MAP3K15_chrX_19355059_19520508 | 19452098 | GAGAAGAG others(111): Show |
G | intron_variant | MODIFIER | HG02897.hp1 | a0007 | a0007c0007 | a0007c0007t0003 | a0007c0007t0003g0129 | 1 | 163 | 0.0061 | -118 | c.995 others(17): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 6/28 | chrX | TogoVar | |||||||
MAP3K15_chrX_19355059_19520508 | 19452193 | GAGAAGAG others(111): Show |
G | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 163 | 0.0061 | -118 | c.995 others(17): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 6/28 | chrX | TogoVar | |||||||
MBD3L2_chr19_7044321_7056735 | 7053460 | TATTATAA others(111): Show |
T | downstream_gene_variant | MODIFIER | HG03209.hp2 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0043 | 1 | 258 | 0.0039 | -118 | c.*18 others(11): Show |
MBD3L2 | ENSG00000230522.5 | transcript | ENST00000381393.3 | protein_coding | 1726 | chr19 | TogoVar | |||||||
MBD3L3_chr19_7051207_7063676 | 7053460 | TATTATAA others(111): Show |
T | downstream_gene_variant | MODIFIER | HG03209.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0044 | 1 | 288 | 0.0035 | -118 | c.*27 others(11): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 2746 | chr19 | TogoVar | |||||||
MBD5_chr2_148016091_148521971 | 148345430 | TATACATA others(111): Show |
T | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0159 | 1 | 188 | 0.0053 | -118 | c.-55 others(19): Show |
MBD5 | ENSG00000204406.14 | transcript | ENST00000642680.2 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MELTF_chr3_196996740_197034817 | 197033835 | GGGTGTGA others(111): Show |
G | upstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0239 | 1 | 420 | 0.0024 | -118 | c.-42 others(11): Show |
MELTF | ENSG00000163975.14 | transcript | ENST00000296350.10 | protein_coding | 4019 | chr3 | TogoVar | |||||||
MGMT_chr10_129462241_129775983 | 129680527 | CGGATCTG others(111): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01074.hp2 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0004a0001c0001t0041a0002c0002t0002others(5): Show | a0001c0001t0004g0092 a0001c0001t0041g0032 a0002c0002t0002g0027 others(10): Show |
13 | 194 | 0.0670 | -118 | c.126 others(19): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237543804 | GGGACAGT others(111): Show |
G | intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 286 | 0.0035 | -118 | c.153 others(19): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MRPL23_chr11_1942332_1961600 | 1950577 | TGAGTGGA others(111): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(84): Show |
a0001a0013 | a0001c0001a0013c0009 | a0001c0001t0001a0013c0009t0003 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0014 others(27): Show |
87 | 401 | 0.2170 | -118 | c.18- others(13): Show |
MRPL23 | ENSG00000214026.11 | transcript | ENST00000397298.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MRPL23_chr11_1942332_1961600 | 1950614 | TGTTTCCC others(111): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(226): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0006others(5): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(97): Show |
229 | 401 | 0.5711 | -118 | c.18- others(13): Show |
MRPL23 | ENSG00000214026.11 | transcript | ENST00000397298.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MRPL23_chr11_1942332_1961600 | 1950629 | CCTGTTGT others(111): Show |
C | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 401 | 0.0025 | -118 | c.18- others(13): Show |
MRPL23 | ENSG00000214026.11 | transcript | ENST00000397298.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MRPL23_chr11_1942332_1961600 | 1950661 | GGTTAGCT others(111): Show |
G | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 401 | 0.0025 | -118 | c.18- others(13): Show |
MRPL23 | ENSG00000214026.11 | transcript | ENST00000397298.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MSLN_chr16_755734_773862 | 767668 | GGGGGGCG others(111): Show |
G | intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 388 | 0.0026 | -118 | c.159 others(17): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MTA1_chr14_105414827_105475729 | 105459050 | GGGGAGCT others(111): Show |
G | intron_variant | MODIFIER | HG03579.hp1 NA20300.hp2 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0049 a0003c0004t0001g0050 |
2 | 304 | 0.0066 | -118 | c.653 others(15): Show |
MTA1 | ENSG00000182979.18 | transcript | ENST00000331320.12 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
MTA1_chr14_105414827_105475729 | 105459145 | GTGGCCCC others(111): Show |
G | intron_variant | MODIFIER | HG01168.hp2 HG01975.hp2 NA19064.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0193 a0001c0001t0001g0227 a0002c0002t0001g0230 |
3 | 304 | 0.0099 | -118 | c.653 others(15): Show |
MTA1 | ENSG00000182979.18 | transcript | ENST00000331320.12 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
MTA1_chr14_105414827_105475729 | 105459754 | CCCTGGGG others(111): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0011a0001c0012others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(238): Show |
257 | 304 | 0.8454 | -118 | c.654 others(15): Show |
MTA1 | ENSG00000182979.18 | transcript | ENST00000331320.12 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195783428 | TGTCACCT others(111): Show |
T | frameshift_variant | HIGH | NA18955.hp1 | a0128 | a0128c0197 | a0128c0197t0003 | a0128c0197t0003g0207 | 1 | 249 | 0.0040 | -118 | c.803 others(9): Show |
p.Ser others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 8263/16756 | 8034/16239 | 2678/5412 | chr3 | TogoVar | |||
MUC5B_chr11_1218066_1267172 | 1255550 | GCCTGTGC others(111): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(224): Show |
a0001a0002a0005others(115): Show | a0001c0001a0001c0138a0002c0002others(143): Show | a0001c0001t0001a0001c0138t0001a0002c0002t0001others(143): Show | a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0023 others(174): Show |
227 | 350 | 0.6486 | -118 | c.160 others(18): Show |
MUC5B | ENSG00000117983.17 | transcript | ENST00000529681.5 | protein_coding | 37/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MYDGF_chr19_4652545_4675342 | 4672179 | ATATACTT others(111): Show |
A | upstream_gene_variant | MODIFIER | HG02622.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0092 | 1 | 410 | 0.0024 | -118 | c.-19 others(11): Show |
MYDGF | ENSG00000074842.8 | transcript | ENST00000262947.8 | protein_coding | 1838 | chr19 | TogoVar | |||||||
NAV1_chr1_201534127_201831969 | 201643164 | CCTTTCTT others(111): Show |
C | intron_variant | MODIFIER | HG02886.hp1 HG02976.hp2 HG03041.hp1 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0045a0001c0001t0047a0001c0001t0070others(1): Show | a0001c0001t0045g0135 a0001c0001t0047g0200 a0001c0001t0070g0163 others(1): Show |
4 | 210 | 0.0191 | -118 | c.827 others(17): Show |
NAV1 | ENSG00000134369.16 | transcript | ENST00000685211.1 | protein_coding | 4/33 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NEU4_chr2_241804193_241822413 | 241805252 | TCCCCCCT others(111): Show |
T | upstream_gene_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0050 | 1 | 319 | 0.0031 | -118 | c.-40 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3940 | chr2 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241805291 | TCCCCCCT others(111): Show |
T | upstream_gene_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 319 | 0.0031 | -118 | c.-39 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3901 | chr2 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241807300 | TCCCGCCT others(111): Show |
T | upstream_gene_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0191 | 1 | 319 | 0.0031 | -118 | c.-19 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1892 | chr2 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241807339 | TCCCCCCT others(111): Show |
T | upstream_gene_variant | MODIFIER | HG03834.hp1 HG04199.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0075 a0001c0002t0001g0085 |
2 | 319 | 0.0063 | -118 | c.-19 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1853 | chr2 | TogoVar | |||||||
NLK_chr17_28037677_28201381 | 28172179 | ATTTAAAT others(111): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0005 |
2 | 108 | 0.0185 | -118 | c.104 others(17): Show |
NLK | ENSG00000087095.13 | transcript | ENST00000407008.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
NRXN3_chr14_78165373_79873291 | 78926841 | ATATAATA others(111): Show |
A | intron_variant | MODIFIER | HG01081.hp1 HG01081.hp2 HG01243.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0010others(11): Show | a0001c0001t0002g0018 a0001c0001t0008g0008 a0001c0001t0010g0006 others(11): Show |
14 | 24 | 0.5833 | -118 | c.227 others(21): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 10/20 | chr14 | TogoVar | |||||||
OPCML_chr11_132409981_133537501 | 133458180 | GTATATAT others(111): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG02976.hp2 HG03516.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0013a0001c0001t0014others(1): Show | a0001c0001t0005g0038 a0001c0001t0013g0041 a0001c0001t0014g0017 others(1): Show |
4 | 68 | 0.0588 | -118 | c.61+ others(17): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
OPCML_chr11_132409981_133537501 | 133458351 | TGTGTGTA others(111): Show |
T | intron_variant | MODIFIER | HG01192.hp2 HG02258.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010a0001c0001t0031 | a0001c0001t0003g0046 a0001c0001t0010g0061 a0001c0001t0031g0062 |
3 | 68 | 0.0441 | -118 | c.61+ others(17): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
OSBPL5_chr11_3082107_3170310 | 3103741 | TGCAACCC others(111): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(117): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0004others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(26): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0016 others(115): Show |
120 | 326 | 0.3681 | -118 | c.124 others(17): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 10/21 | chr11 | TogoVar | |||||||
PAIP2_chr5_139336854_139374717 | 139362801 | AAGTGCCG others(111): Show |
A | intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 344 | 0.0029 | -118 | c.-26 others(15): Show |
PAIP2 | ENSG00000120727.13 | transcript | ENST00000265192.9 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45815108 | GTGGTGAG others(111): Show |
G | intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0180 | 1 | 292 | 0.0034 | -118 | c.-12 others(21): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45896481 | TGCACTGC others(111): Show |
T | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0035 | 1 | 292 | 0.0034 | -118 | c.165 others(15): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45896757 | TGGCACAT others(111): Show |
T | intron_variant | MODIFIER | HG02280.hp1 HG03195.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0015a0001c0001t0017 | a0001c0001t0004g0004 a0001c0001t0015g0003 a0001c0001t0017g0097 |
3 | 292 | 0.0103 | -118 | c.165 others(15): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31849877 | TATATATA others(111): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02723.hp1 HG03225.hp1 others(2): Show |
a0001a0002a0004 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0005t0002a0002c0002t0002others(1): Show | a0001c0001t0001g0112 a0001c0001t0001g0180 a0001c0005t0002g0100 others(2): Show |
5 | 216 | 0.0232 | -118 | c.476 others(19): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PEX5_chr12_7184686_7216459 | 7197004 | TATATATG others(111): Show |
T | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0225 | 1 | 428 | 0.0023 | -118 | c.449 others(17): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PID1_chr2_229018973_229276287 | 229138997 | AAGAAAGA others(111): Show |
A | intron_variant | MODIFIER | HG01069.hp2 HG03831.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0060 a0001c0001t0002g0171 |
2 | 256 | 0.0078 | -118 | c.177 others(19): Show |
PID1 | ENSG00000153823.19 | transcript | ENST00000392055.8 | protein_coding | 2/2 | chr2 | TogoVar |