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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PEAK1_chr15_77103158_77425104 | 77376000 | AAAATAAA others(13): Show |
A | intron_variant | MODIFIER | HG00280.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0125 | 1 | 123 | 0.0081 | -20 | c.-66 others(41): Show |
PEAK1 | ENSG00000173517.11 | transcript | ENST00000682557.1 | protein_coding | 1/9 | chr15 | TogoVar | |||||||
PEAK1_chr15_77103158_77425104 | 77390917 | GAACTCCT others(13): Show |
G | intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0013 | 1 | 324 | 0.0031 | -20 | c.-66 others(41): Show |
PEAK1 | ENSG00000173517.11 | transcript | ENST00000682557.1 | protein_coding | 1/9 | chr15 | TogoVar | |||||||
PEAK1_chr15_77103158_77425104 | 77423799 | GTTTGTTT others(13): Show |
G | upstream_gene_variant | MODIFIER | HG02698.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0140 | 1 | 324 | 0.0031 | -20 | c.-44 others(31): Show |
PEAK1 | ENSG00000173517.11 | transcript | ENST00000682557.1 | protein_coding | 3696 | chr15 | TogoVar | |||||||
PEAK3_chr19_2269631_2287175 | 2280757 | TCCTGCCG others(13): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00438.hp2 others(89): Show |
a0001a0003a0006others(2): Show | a0001c0001a0001c0013a0003c0003others(3): Show | a0001c0001t0006a0001c0001t0017a0001c0013t0002others(12): Show | a0001c0001t0006g0089 a0001c0001t0006g0090 a0001c0001t0017g0144 others(37): Show |
92 | 451 | 0.2040 | -20 | c.82+ others(31): Show |
PEAK3 | ENSG00000188305.6 | transcript | ENST00000342063.5 | protein_coding | 2/3 | chr19 | TogoVar | |||||||
PEAK3_chr19_2269631_2287175 | 2280777 | ACCTGCCG others(13): Show |
A | intron_variant | MODIFIER | NA19082.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0124 | 1 | 451 | 0.0022 | -20 | c.82+ others(31): Show |
PEAK3 | ENSG00000188305.6 | transcript | ENST00000342063.5 | protein_coding | 2/3 | chr19 | TogoVar | |||||||
PEBP4_chr8_22708251_22932914 | 22728547 | TCTTTCTT others(13): Show |
T | intron_variant | MODIFIER | HG04204.hp1 | a0004 | a0004c0003 | a0004c0003t0003 | a0004c0003t0003g0134 | 1 | 256 | 0.0039 | -20 | c.358 others(37): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 4/6 | chr8 | TogoVar | |||||||
PEBP4_chr8_22708251_22932914 | 22731629 | TTATTTAT others(13): Show |
T | intron_variant | MODIFIER | HG03516.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0043 | 1 | 276 | 0.0036 | -20 | c.358 others(37): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 4/6 | chr8 | TogoVar | |||||||
PECR_chr2_216033388_216086809 | 216074493 | AAAGGAAG others(13): Show |
A | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0365 | 1 | 91 | 0.0110 | -20 | c.124 others(37): Show |
PECR | ENSG00000115425.14 | transcript | ENST00000265322.8 | protein_coding | 1/7 | chr2 | TogoVar | |||||||
PELI1_chr2_64087652_64149420 | 64099165 | TACACACA others(13): Show |
T | intron_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0082 | 1 | 108 | 0.0093 | -20 | c.303 others(37): Show |
PELI1 | ENSG00000197329.12 | transcript | ENST00000358912.5 | protein_coding | 4/6 | chr2 | TogoVar | |||||||
PELI2_chr14_56113411_56306524 | 56197969 | GACACACA others(13): Show |
G | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 204 | 0.0049 | -20 | c.207 others(39): Show |
PELI2 | ENSG00000139946.11 | transcript | ENST00000267460.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PEMT_chr17_17500563_17596708 | 17586272 | GAAAGAAA others(13): Show |
G | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 340 | 0.0029 | -20 | c.96+ others(35): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | TogoVar | |||||||
PEPD_chr19_33381950_33526791 | 33388852 | AGCTGAGG others(13): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp2 HG00621.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0003 a0001c0001t0001g0043 a0001c0001t0001g0067 others(25): Show |
29 | 312 | 0.0929 | -20 | c.115 others(37): Show |
PEPD | ENSG00000124299.16 | transcript | ENST00000244137.12 | protein_coding | 13/14 | chr19 | TogoVar | |||||||
PEPD_chr19_33381950_33526791 | 33505877 | AACACCCT others(13): Show |
A | intron_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0035 | 1 | 312 | 0.0032 | -20 | c.330 others(37): Show |
PEPD | ENSG00000124299.16 | transcript | ENST00000244137.12 | protein_coding | 3/14 | chr19 | TogoVar | |||||||
PER1_chr17_8135472_8157404 | 8139019 | GCCGGCTC others(13): Show |
G | downstream_gene_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0035 | a0001c0035t0001 | a0001c0035t0001g0137 | 1 | 228 | 0.0044 | -20 | c.*20 others(31): Show |
PER1 | ENSG00000179094.16 | transcript | ENST00000317276.9 | protein_coding | 1452 | chr17 | TogoVar | |||||||
PERCC1_chr16_1426078_1439441 | 1436047 | CGTGGCCA others(13): Show |
C | downstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0002 | 1 | 376 | 0.0027 | -20 | c.*26 others(31): Show |
PERCC1 | ENSG00000284395.2 | transcript | ENST00000640283.2 | protein_coding | 1607 | chr16 | TogoVar | |||||||
PERM1_chr1_970198_987093 | 984611 | CTTATTTA others(13): Show |
C | upstream_gene_variant | MODIFIER | HG02615.hp1 HG02723.hp2 HG02976.hp2 others(2): Show |
a0001a0002a0016 | a0001c0001a0001c0015a0002c0005others(1): Show | a0001c0001t0001a0001c0015t0002a0002c0005t0004others(1): Show | a0001c0001t0001g0043 a0001c0015t0002g0047 a0002c0005t0004g0188 others(1): Show |
5 | 43 | 0.1163 | -20 | c.-27 others(31): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2519 | chr1 | TogoVar | |||||||
PET100_chr19_7624793_7636956 | 7627709 | CCCTCGCC others(13): Show |
C | upstream_gene_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 400 | 0.0025 | -20 | c.-21 others(31): Show |
PET100 | ENSG00000229833.11 | transcript | ENST00000594797.6 | protein_coding | 2083 | chr19 | TogoVar | |||||||
PEX12_chr17_35569795_35583571 | 35583115 | CTTTTTTT others(13): Show |
C | upstream_gene_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 81 | 0.0123 | -20 | c.-51 others(31): Show |
PEX12 | ENSG00000108733.11 | transcript | ENST00000225873.9 | protein_coding | 4545 | chr17 | TogoVar | |||||||
PEX14_chr1_10469950_10635758 | 10498280 | TAAAACAA others(13): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG01891.hp2 HG02109.hp2 others(4): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0001t0002a0001c0014t0001 | a0001c0001t0001g0174 a0001c0001t0001g0245 a0001c0001t0001g0250 others(4): Show |
7 | 96 | 0.0729 | -20 | c.84+ others(35): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PEX14_chr1_10469950_10635758 | 10514156 | CTGTGTGT others(13): Show |
C | intron_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 35 | 0.0286 | -20 | c.84+ others(37): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PEX14_chr1_10469950_10635758 | 10577546 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 247 | 0.0040 | -20 | c.170 others(39): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PEX14_chr1_10469950_10635758 | 10577562 | ATTTTTTT others(13): Show |
A | intron_variant | MODIFIER | HG01928.hp2 HG02630.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0014 a0001c0002t0001g0199 |
2 | 167 | 0.0120 | -20 | c.170 others(39): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PEX1_chr7_92482025_92533520 | 92515067 | CTATATAT others(13): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG01891.hp1 HG02717.hp1 others(6): Show |
a0001a0011 | a0001c0001a0001c0014a0011c0019 | a0001c0001t0001a0001c0001t0002a0001c0014t0001others(1): Show | a0001c0001t0001g0038 a0001c0001t0001g0177 a0001c0001t0001g0178 others(5): Show |
9 | 14 | 0.6429 | -20 | c.124 others(39): Show |
PEX1 | ENSG00000127980.16 | transcript | ENST00000248633.9 | protein_coding | 5/23 | chr7 | TogoVar | |||||||
PEX1_chr7_92482025_92533520 | 92516045 | AGAGAAGA others(13): Show |
A | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 305 | 0.0033 | -20 | c.123 others(39): Show |
PEX1 | ENSG00000127980.16 | transcript | ENST00000248633.9 | protein_coding | 5/23 | chr7 | TogoVar | |||||||
PEX1_chr7_92482025_92533520 | 92516050 | AGAGAAAA others(13): Show |
A | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 296 | 0.0034 | -20 | c.123 others(39): Show |
PEX1 | ENSG00000127980.16 | transcript | ENST00000248633.9 | protein_coding | 5/23 | chr7 | TogoVar | |||||||
PEX2_chr8_76975258_77005078 | 76999914 | TCGTGAAA others(13): Show |
T | intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0079 | 1 | 410 | 0.0024 | -20 | c.-16 others(35): Show |
PEX2 | ENSG00000164751.15 | transcript | ENST00000357039.9 | protein_coding | 1/3 | chr8 | TogoVar | |||||||
PF4_chr4_73975811_73987027 | 73982164 | CAAAAAAA others(13): Show |
C | upstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 25 | 0.0400 | -20 | c.-23 others(29): Show |
PF4 | ENSG00000163737.5 | transcript | ENST00000296029.4 | protein_coding | 138 | chr4 | TogoVar | |||||||
PFAS_chr17_8244289_8275486 | 8246965 | CTTATTTA others(13): Show |
C | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp2 others(102): Show |
a0003a0004a0009others(4): Show | a0003c0003a0003c0026a0003c0027others(6): Show | a0003c0003t0001a0003c0003t0006a0003c0003t0008others(13): Show | a0003c0003t0001g0003 a0003c0003t0001g0005 a0003c0003t0001g0015 others(44): Show |
105 | 131 | 0.8015 | -20 | c.-24 others(31): Show |
PFAS | ENSG00000178921.14 | transcript | ENST00000314666.11 | protein_coding | 2323 | chr17 | TogoVar | |||||||
PFDN2_chr1_161095561_161123037 | 161097728 | CTCTCTCT others(13): Show |
C | downstream_gene_variant | MODIFIER | HG02109.hp2 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 a0001c0001t0001g0105 |
2 | 361 | 0.0055 | -20 | c.*29 others(31): Show |
PFDN2 | ENSG00000143256.5 | transcript | ENST00000368010.4 | protein_coding | 2832 | chr1 | TogoVar | |||||||
PFKFB2_chr1_207048275_207082817 | 207061079 | ATATATCT others(13): Show |
A | intron_variant | MODIFIER | HG01496.hp2 HG02257.hp2 |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0023 | a0001c0001t0020g0090 a0001c0001t0023g0084 |
2 | 340 | 0.0059 | -20 | c.86- others(33): Show |
PFKFB2 | ENSG00000123836.15 | transcript | ENST00000367080.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PGAM1_chr10_97421191_97438444 | 97421856 | AAAATAAA others(13): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp2 HG01516.hp1 HG01884.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0026 others(9): Show |
17 | 89 | 0.1910 | -20 | c.-44 others(31): Show |
PGAM1 | ENSG00000171314.9 | transcript | ENST00000334828.6 | protein_coding | 4334 | chr10 | TogoVar | |||||||
PGAP2_chr11_3803560_3831371 | 3814748 | TTTTCTTT others(13): Show |
T | intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0002 | a0002c0002t0027 | a0002c0002t0027g0139 | 1 | 262 | 0.0038 | -20 | c.166 others(37): Show |
PGAP2 | ENSG00000148985.20 | transcript | ENST00000278243.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PGAP2_chr11_3803560_3831371 | 3814796 | CTTTCTTT others(13): Show |
C | intron_variant | MODIFIER | HG01261.hp1 HG01433.hp2 NA18952.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012a0001c0001t0019 | a0001c0001t0001g0035 a0001c0001t0001g0101 a0001c0001t0012g0181 others(1): Show |
4 | 416 | 0.0096 | -20 | c.166 others(37): Show |
PGAP2 | ENSG00000148985.20 | transcript | ENST00000278243.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PGAP4_chr9_101468170_101492173 | 101491812 | GATATATA others(13): Show |
G | upstream_gene_variant | MODIFIER | HG00733.hp2 HG01070.hp1 HG01099.hp1 others(22): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0011a0001c0001t0012a0001c0002t0005others(2): Show | a0001c0001t0011g0018 a0001c0001t0011g0153 a0001c0001t0011g0154 others(7): Show |
25 | 120 | 0.2083 | -20 | c.-49 others(31): Show |
PGAP4 | ENSG00000165152.9 | transcript | ENST00000374848.8 | protein_coding | 4640 | chr9 | TogoVar | |||||||
PGAP6_chr16_365788_386978 | 366240 | TCCAGCAG others(13): Show |
T | downstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0018 | 1 | 374 | 0.0027 | -20 | c.*57 others(31): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 4547 | chr16 | TogoVar | |||||||
PGBD5_chr1_230309490_230431332 | 230316056 | ATGTATGT others(13): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00423.hp2 NA18969.hp2 |
a0001 | a0001c0002 | a0001c0002t0040 | a0001c0002t0040g0192 a0001c0002t0040g0211 |
2 | 217 | 0.0092 | -20 | c.*73 others(31): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 7/7 | 7349 | chr1 | TogoVar | ||||||
PGBD5_chr1_230309490_230431332 | 230335857 | ACACACAC others(13): Show |
A | intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0263 | 1 | 286 | 0.0035 | -20 | c.107 others(39): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 4/6 | chr1 | TogoVar | |||||||
PGBD5_chr1_230309490_230431332 | 230335858 | CACACACA others(13): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(98): Show | a0001c0001t0002g0004 a0001c0001t0002g0012 a0001c0001t0002g0056 others(249): Show |
257 | 286 | 0.8986 | -20 | c.107 others(39): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 4/6 | chr1 | TogoVar | |||||||
PGBD5_chr1_230309490_230431332 | 230396252 | CCCCCACA others(13): Show |
C | intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0071 | 1 | 283 | 0.0035 | -20 | c.331 others(39): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
PGLYRP2_chr19_15463645_15484501 | 15467838 | TTTCCTTC others(13): Show |
T | downstream_gene_variant | MODIFIER | HG00733.hp2 HG01099.hp1 HG02055.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0010 others(4): Show |
9 | 132 | 0.0682 | -20 | c.*80 others(29): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 806 | chr19 | TogoVar | |||||||
PGLYRP2_chr19_15463645_15484501 | 15482520 | TTTTCTTT others(13): Show |
T | upstream_gene_variant | MODIFIER | HG03195.hp2 | a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0047 | 1 | 370 | 0.0027 | -20 | c.-31 others(31): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 3020 | chr19 | TogoVar | |||||||
PGLYRP2_chr19_15463645_15484501 | 15482555 | TCTTTCTT others(13): Show |
T | upstream_gene_variant | MODIFIER | HG00621.hp2 HG03491.hp2 HG03942.hp1 |
a0001a0008 | a0001c0001a0008c0007 | a0001c0001t0001a0008c0007t0001 | a0001c0001t0001g0078 a0008c0007t0001g0268 a0008c0007t0001g0269 |
3 | 367 | 0.0082 | -20 | c.-32 others(31): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 3055 | chr19 | TogoVar | |||||||
PGLYRP2_chr19_15463645_15484501 | 15482600 | CTTCCTTC others(13): Show |
C | upstream_gene_variant | MODIFIER | HG00741.hp1 HG01516.hp1 HG01517.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0116 a0004c0004t0001g0018 a0004c0004t0001g0039 |
4 | 371 | 0.0108 | -20 | c.-32 others(31): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 3100 | chr19 | TogoVar | |||||||
PGLYRP3_chr1_153292116_153317952 | 153297499 | AAAGGAAG others(13): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02622.hp1 NA18906.hp1 NA19009.hp1 |
a0002a0012 | a0002c0002a0012c0018 | a0002c0002t0036a0012c0018t0083 | a0002c0002t0036g0056 a0012c0018t0083g0221 |
3 | 152 | 0.0197 | -20 | c.*43 others(29): Show |
PGLYRP3 | ENSG00000159527.4 | transcript | ENST00000683862.1 | protein_coding | 8/8 | 437 | chr1 | TogoVar | ||||||
PGLYRP3_chr1_153292116_153317952 | 153297534 | GGAAGGAA others(13): Show |
G | 3_prime_UTR_variant | MODIFIER | HG02630.hp1 HG02738.hp1 HG02818.hp1 |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0025a0004c0004t0079 | a0002c0002t0025g0170 a0002c0002t0025g0172 a0004c0004t0079g0165 |
3 | 429 | 0.0070 | -20 | c.*40 others(29): Show |
PGLYRP3 | ENSG00000159527.4 | transcript | ENST00000683862.1 | protein_coding | 8/8 | 402 | chr1 | TogoVar | ||||||
PGLYRP4_chr1_153325120_153353841 | 153351819 | AGGCGTGA others(13): Show |
A | upstream_gene_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 390 | 0.0026 | -20 | c.-33 others(31): Show |
PGLYRP4 | ENSG00000163218.15 | transcript | ENST00000359650.10 | protein_coding | 2979 | chr1 | TogoVar | |||||||
PGM1_chr1_63588411_63665245 | 63633866 | CTGTGTGT others(13): Show |
C | intron_variant | MODIFIER | HG01975.hp2 HG02004.hp1 HG02027.hp2 others(2): Show |
a0002a0004a0007 | a0002c0002a0004c0004a0007c0010 | a0002c0002t0001a0004c0004t0001a0007c0010t0003 | a0002c0002t0001g0117 a0002c0002t0001g0294 a0004c0004t0001g0289 others(2): Show |
5 | 219 | 0.0228 | -20 | c.683 others(35): Show |
PGM1 | ENSG00000079739.17 | transcript | ENST00000371084.8 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PGM1_chr1_63588411_63665245 | 63633900 | GTGTGTGT others(13): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00621.hp1 HG00621.hp2 others(42): Show |
a0002a0004a0007 | a0002c0002a0004c0004a0007c0010others(1): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(8): Show | a0002c0002t0001g0014 a0002c0002t0001g0031 a0002c0002t0001g0032 others(42): Show |
45 | 363 | 0.1240 | -20 | c.683 others(35): Show |
PGM1 | ENSG00000079739.17 | transcript | ENST00000371084.8 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PGM1_chr1_63588411_63665245 | 63633906 | GTGTGTGT others(13): Show |
G | intron_variant | MODIFIER | HG00738.hp1 HG02647.hp1 HG02886.hp2 others(3): Show |
a0001a0005 | a0001c0006a0005c0005 | a0001c0006t0001a0001c0006t0003a0005c0005t0001others(1): Show | a0001c0006t0001g0162 a0001c0006t0001g0346 a0001c0006t0003g0340 others(3): Show |
6 | 343 | 0.0175 | -20 | c.683 others(35): Show |
PGM1 | ENSG00000079739.17 | transcript | ENST00000371084.8 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PGM2L1_chr11_74325316_74403433 | 74329222 | TAATAAAT others(13): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(171): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0004a0001c0009others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(38): Show | a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0101 others(165): Show |
174 | 230 | 0.7565 | -20 | c.*74 others(31): Show |
PGM2L1 | ENSG00000165434.8 | transcript | ENST00000298198.5 | protein_coding | 1093 | chr11 | TogoVar |