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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OXSR1_chr3_38160537_38260484 | 38162042 | ATTTCATA others(18): Show |
A | upstream_gene_variant | MODIFIER | HG00741.hp2 HG02896.hp2 HG02897.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0225 others(1): Show |
4 | 243 | 0.0165 | -25 | c.-38 others(36): Show |
OXSR1 | ENSG00000172939.9 | transcript | ENST00000311806.8 | protein_coding | 3494 | chr3 | TogoVar | |||||||
OXSR1_chr3_38160537_38260484 | 38184903 | CTTTTTTT others(18): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG01074.hp1 others(30): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(2): Show | a0001c0001t0001g0063 a0001c0001t0001g0080 a0002c0002t0001g0005 others(30): Show |
33 | 75 | 0.4400 | -25 | c.183 others(42): Show |
OXSR1 | ENSG00000172939.9 | transcript | ENST00000311806.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
OXTR_chr3_8745381_8774613 | 8773138 | TATCTATA others(18): Show |
T | upstream_gene_variant | MODIFIER | HG00733.hp2 HG03654.hp1 |
a0002 | a0002c0003 | a0002c0003t0002a0002c0003t0019 | a0002c0003t0002g0029 a0002c0003t0019g0215 |
2 | 424 | 0.0047 | -25 | c.-41 others(36): Show |
OXTR | ENSG00000180914.11 | transcript | ENST00000316793.8 | protein_coding | 3526 | chr3 | TogoVar | |||||||
P2RX2_chr12_132613776_132627388 | 132615696 | TCCCTGGG others(18): Show |
T | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02886.hp1 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 384 | 0.0078 | -25 | c.-31 others(36): Show |
P2RX2 | ENSG00000187848.15 | transcript | ENST00000643471.2 | protein_coding | 3079 | chr12 | TogoVar | |||||||
P2RX3_chr11_57333352_57377396 | 57374426 | CAAAAAAA others(18): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(272): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0001c0008others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0022 others(205): Show |
275 | 280 | 0.9821 | -25 | c.*44 others(36): Show |
P2RX3 | ENSG00000109991.10 | transcript | ENST00000263314.3 | protein_coding | 2031 | chr11 | TogoVar | |||||||
P2RY10_chrX_78940391_78968727 | 78965740 | CCTTTCTT others(18): Show |
C | downstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 317 | 0.0032 | -25 | c.*42 others(36): Show |
P2RY10 | ENSG00000078589.13 | transcript | ENST00000171757.3 | protein_coding | 2014 | chrX | TogoVar | |||||||
P2RY12_chr3_151331843_151389753 | 151368586 | ATTTATTT others(18): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG02135.hp2 HG03098.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0003a0002c0004t0005 | a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0067 others(7): Show |
12 | 356 | 0.0337 | -25 | c.-18 others(46): Show |
P2RY12 | ENSG00000169313.10 | transcript | ENST00000302632.4 | protein_coding | 1/2 | chr3 | TogoVar | |||||||
P2RY12_chr3_151331843_151389753 | 151368624 | TATTTTAT others(18): Show |
T | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0183 | 1 | 316 | 0.0032 | -25 | c.-18 others(46): Show |
P2RY12 | ENSG00000169313.10 | transcript | ENST00000302632.4 | protein_coding | 1/2 | chr3 | TogoVar | |||||||
P2RY12_chr3_151331843_151389753 | 151368629 | TATTTCAT others(18): Show |
T | intron_variant | MODIFIER | NA18942.hp1 NA18957.hp2 NA19004.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0010 a0001c0001t0003g0219 a0001c0001t0003g0254 |
4 | 150 | 0.0267 | -25 | c.-18 others(46): Show |
P2RY12 | ENSG00000169313.10 | transcript | ENST00000302632.4 | protein_coding | 1/2 | chr3 | TogoVar | |||||||
P2RY12_chr3_151331843_151389753 | 151368664 | CATTTCAT others(18): Show |
C | intron_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0004 | a0002c0004t0005 | a0002c0004t0005g0090 | 1 | 391 | 0.0026 | -25 | c.-18 others(46): Show |
P2RY12 | ENSG00000169313.10 | transcript | ENST00000302632.4 | protein_coding | 1/2 | chr3 | TogoVar | |||||||
P2RY12_chr3_151331843_151389753 | 151368677 | GTCATTTC others(18): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG03130.hp2 NA18995.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0063 a0001c0001t0001g0176 a0001c0001t0004g0062 |
3 | 192 | 0.0156 | -25 | c.-18 others(46): Show |
P2RY12 | ENSG00000169313.10 | transcript | ENST00000302632.4 | protein_coding | 1/2 | chr3 | TogoVar | |||||||
P2RY8_chrX_1457581_1542185 | 1493415 | AAGGAGGA others(18): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0027 | a0001c0001t0001g0055 a0001c0001t0027g0047 |
2 | 113 | 0.0177 | -25 | c.-24 others(44): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | |||||||
P3H2_chr3_189951728_190125897 | 189997679 | ATTAAATC others(18): Show |
A | intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0233 | 1 | 302 | 0.0033 | -25 | c.481 others(42): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 1/14 | chr3 | TogoVar | |||||||
P4HA1_chr10_73002217_73101866 | 73093868 | AAAAAAAT others(18): Show |
A | intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 225 | 0.0044 | -25 | c.-33 others(42): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 1/14 | chr10 | TogoVar | |||||||
P4HA1_chr10_73002217_73101866 | 73093870 | AAAAATAT others(18): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG02071.hp1 NA18968.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012 | a0001c0001t0003g0095 a0001c0001t0003g0120 a0001c0001t0003g0121 others(4): Show |
7 | 211 | 0.0332 | -25 | c.-33 others(42): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 1/14 | chr10 | TogoVar | |||||||
P4HA2_chr5_132185147_132232853 | 132208411 | GGAGGGGA others(18): Show |
G | intron_variant | MODIFIER | HG02145.hp2 HG02572.hp2 HG03209.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0029a0001c0001t0037 | a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0029g0046 others(1): Show |
4 | 338 | 0.0118 | -25 | c.904 others(40): Show |
P4HA2 | ENSG00000072682.20 | transcript | ENST00000360568.8 | protein_coding | 7/14 | chr5 | TogoVar | |||||||
PABPC1L2B_chrX_72997939_73011106 | 73002769 | GCCCCGCA others(18): Show |
G | upstream_gene_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0000 | 1 | 292 | 0.0034 | -25 | c.-87 others(34): Show |
PABPC1L2B | ENSG00000184388.6 | transcript | ENST00000373521.4 | protein_coding | 169 | chrX | TogoVar | |||||||
PACC1_chr1_212358928_212419886 | 212381672 | GCACAGAC others(18): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00741.hp2 HG01169.hp2 others(27): Show |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(3): Show | a0001c0001t0001g0017 a0001c0001t0001g0089 a0001c0001t0001g0279 others(24): Show |
30 | 372 | 0.0806 | -25 | c.496 others(42): Show |
PACC1 | ENSG00000065600.13 | transcript | ENST00000261455.9 | protein_coding | 4/7 | chr1 | TogoVar | |||||||
PACS1_chr11_66065272_66249744 | 66248194 | TGGAAAAG others(18): Show |
T | downstream_gene_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 320 | 0.0031 | -25 | c.*49 others(36): Show |
PACS1 | ENSG00000175115.13 | transcript | ENST00000320580.9 | protein_coding | 3451 | chr11 | TogoVar | |||||||
PADI1_chr1_17200128_17251007 | 17222195 | ACGGCCTG others(18): Show |
A | intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0258 | 1 | 404 | 0.0025 | -25 | c.93- others(36): Show |
PADI1 | ENSG00000142623.11 | transcript | ENST00000375471.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PADI6_chr1_17367196_17406699 | 17376522 | TTATTTTT others(18): Show |
T | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0269 | 1 | 407 | 0.0025 | -25 | c.367 others(42): Show |
PADI6 | ENSG00000276747.1 | transcript | ENST00000619609.1 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PAF1_chr19_39380629_39396106 | 39393072 | CTTTCTTT others(18): Show |
C | upstream_gene_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 272 | 0.0037 | -25 | c.-22 others(36): Show |
PAF1 | ENSG00000006712.15 | transcript | ENST00000221265.8 | protein_coding | 1967 | chr19 | TogoVar | |||||||
PAFAH1B2_chr11_117139287_117176045 | 117172382 | ATATATAT others(18): Show |
A | downstream_gene_variant | MODIFIER | HG00544.hp2 NA18952.hp2 NA19005.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 3 | 424 | 0.0071 | -25 | c.*46 others(36): Show |
PAFAH1B2 | ENSG00000168092.14 | transcript | ENST00000527958.6 | protein_coding | 1338 | chr11 | TogoVar | |||||||
PAFAH1B2_chr11_117139287_117176045 | 117172384 | ATATATAT others(18): Show |
A | downstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 424 | 0.0024 | -25 | c.*46 others(36): Show |
PAFAH1B2 | ENSG00000168092.14 | transcript | ENST00000527958.6 | protein_coding | 1340 | chr11 | TogoVar | |||||||
PAG1_chr8_80962810_81117068 | 80994108 | TCCACTGC others(18): Show |
T | intron_variant | MODIFIER | HG03139.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0053a0001c0001t0074 | a0001c0001t0053g0019 a0001c0001t0074g0238 |
2 | 254 | 0.0079 | -25 | c.-80 others(40): Show |
PAG1 | ENSG00000076641.4 | transcript | ENST00000220597.4 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
PAGE1_chrX_49682447_49700984 | 49689568 | AAAAAAAA others(18): Show |
A | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 320 | 0.0031 | -25 | c.293 others(38): Show |
PAGE1 | ENSG00000068985.5 | transcript | ENST00000376150.4 | protein_coding | 4/5 | chrX | TogoVar | |||||||
PAH_chr12_102831889_102922244 | 102871932 | AAAAAAAA others(18): Show |
A | intron_variant | MODIFIER | NA18992.hp2 NA18999.hp1 NA18999.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0063 others(2): Show |
5 | 305 | 0.0164 | -25 | c.442 others(42): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | TogoVar | |||||||
PAH_chr12_102831889_102922244 | 102871934 | AAAAAAAA others(18): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG02486.hp2 HG02738.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0002t0001a0001c0004t0008others(1): Show | a0001c0001t0002g0195 a0001c0002t0001g0153 a0001c0002t0001g0204 others(5): Show |
8 | 270 | 0.0296 | -25 | c.442 others(42): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | TogoVar | |||||||
PAH_chr12_102831889_102922244 | 102871938 | AAAAAAAA others(18): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 a0001c0001t0001g0215 |
2 | 306 | 0.0065 | -25 | c.442 others(42): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | TogoVar | |||||||
PAH_chr12_102831889_102922244 | 102871940 | AAAAAAAA others(18): Show |
A | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0294 | 1 | 311 | 0.0032 | -25 | c.442 others(42): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | TogoVar | |||||||
PAK3_chrX_111091191_111232361 | 111179892 | GGGATTAC others(18): Show |
G | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0190 | 1 | 193 | 0.0052 | -25 | c.830 others(42): Show |
PAK3 | ENSG00000077264.17 | transcript | ENST00000372007.10 | protein_coding | 11/17 | chrX | TogoVar | |||||||
PAK6_chr15_40234063_40282487 | 40254660 | TCTGGGCA others(18): Show |
T | intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0127 | 1 | 424 | 0.0024 | -25 | c.-6+ others(40): Show |
PAK6 | ENSG00000137843.12 | transcript | ENST00000560346.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PALD1_chr10_70473767_70573450 | 70505603 | TCAAAACA others(18): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00609.hp1 HG00621.hp1 others(59): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0004a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0017 others(59): Show |
62 | 85 | 0.7294 | -25 | c.-29 others(44): Show |
PALD1 | ENSG00000107719.10 | transcript | ENST00000263563.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PALLD_chr4_168492052_168933441 | 168709612 | GAAGGAAG others(18): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG01109.hp1 HG02055.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0005a0003c0008 | a0001c0001t0008a0003c0005t0002a0003c0008t0004 | a0001c0001t0008g0054 a0003c0005t0002g0117 a0003c0008t0004g0047 others(1): Show |
4 | 132 | 0.0303 | -25 | c.162 others(42): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PALLD_chr4_168492052_168933441 | 168759201 | AAATATAT others(18): Show |
A | intron_variant | MODIFIER | HG04204.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0076 | 1 | 154 | 0.0065 | -25 | c.196 others(46): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PALLD_chr4_168492052_168933441 | 168759203 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG01074.hp1 HG04204.hp2 NA19010.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(2): Show | a0001c0001t0002g0127 a0001c0001t0005g0123 a0001c0001t0008g0063 others(2): Show |
5 | 135 | 0.0370 | -25 | c.196 others(46): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | chr4 | TogoVar | |||||||
PALM2AKAP2_chr9_109775198_110177512 | 109873442 | AAAAATAA others(18): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG00738.hp1 HG00738.hp2 others(32): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(15): Show | a0001c0001t0001g0024 a0001c0001t0001g0034 a0001c0001t0001g0158 others(32): Show |
35 | 85 | 0.4118 | -25 | c.126 others(42): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PALMD_chr1_99641113_99699535 | 99652674 | GGAAAGGA others(18): Show |
G | intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0331 | 1 | 378 | 0.0026 | -25 | c.45+ others(40): Show |
PALMD | ENSG00000099260.12 | transcript | ENST00000263174.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PALS1_chr14_67236435_67341061 | 67302803 | ATCAGTAA others(18): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG02809.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0012a0001c0001t0025 | a0001c0001t0009g0270 a0001c0001t0009g0271 a0001c0001t0009g0272 others(3): Show |
6 | 288 | 0.0208 | -25 | c.963 others(40): Show |
PALS1 | ENSG00000072415.10 | transcript | ENST00000261681.9 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PALS1_chr14_67236435_67341061 | 67335954 | GTTCTTTA others(18): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG02809.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0012a0001c0001t0025 | a0001c0001t0009g0270 a0001c0001t0009g0271 a0001c0001t0009g0272 others(3): Show |
6 | 288 | 0.0208 | -25 | c.*30 others(36): Show |
PALS1 | ENSG00000072415.10 | transcript | ENST00000261681.9 | protein_coding | 15/15 | 3000 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PAM_chr5_102750305_103034716 | 102758068 | ATTTTGTT others(18): Show |
A | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 86 | 0.0116 | -25 | c.-37 others(44): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PANK1_chr10_89577988_89650242 | 89595828 | AAAAAAAT others(18): Show |
A | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0238 | 1 | 360 | 0.0028 | -25 | c.900 others(42): Show |
PANK1 | ENSG00000152782.19 | transcript | ENST00000307534.10 | protein_coding | 3/6 | chr10 | TogoVar | |||||||
PAQR5_chr15_69293912_69412780 | 69300642 | TTTCTTTC others(18): Show |
T | intron_variant | MODIFIER | HG00597.hp2 HG00673.hp2 HG01109.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0013a0001c0003t0003 | a0001c0001t0001g0079 a0001c0001t0001g0084 a0001c0001t0013g0069 others(1): Show |
4 | 281 | 0.0142 | -25 | c.-27 others(44): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69365046 | AATTTTAT others(18): Show |
A | intron_variant | MODIFIER | HG02486.hp2 HG02602.hp2 HG02886.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0118 others(5): Show |
8 | 11 | 0.7273 | -25 | c.51+ others(40): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PARD3_chr10_34104561_34820296 | 34177015 | GTGTGTTT others(18): Show |
G | intron_variant | MODIFIER | HG02559.hp1 HG02922.hp2 |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0034 a0001c0003t0004g0035 |
2 | 98 | 0.0204 | -25 | c.342 others(46): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 22/24 | chr10 | TogoVar | |||||||
PARD3_chr10_34104561_34820296 | 34371486 | CAAAAAAA others(18): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG03688.hp1 |
a0001 | a0001c0003a0001c0011 | a0001c0003t0010a0001c0011t0002 | a0001c0003t0010g0042 a0001c0011t0002g0011 |
2 | 86 | 0.0233 | -25 | c.170 others(43): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 12/24 | chr10 | TogoVar | |||||||
PARL_chr3_183824271_183889880 | 183882221 | AAATATAT others(18): Show |
A | intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 316 | 0.0032 | -25 | c.125 others(42): Show |
PARL | ENSG00000175193.14 | transcript | ENST00000317096.9 | protein_coding | 1/9 | chr3 | TogoVar | |||||||
PARN_chr16_14430701_14635260 | 14451844 | AAAAAAAA others(18): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG02572.hp2 HG02615.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0004a0001c0002t0003a0001c0002t0004others(2): Show | a0001c0001t0004g0069 a0001c0002t0003g0151 a0001c0002t0004g0148 others(3): Show |
6 | 168 | 0.0357 | -25 | c.167 others(44): Show |
PARN | ENSG00000140694.18 | transcript | ENST00000437198.7 | protein_coding | 22/23 | chr16 | TogoVar | |||||||
PARN_chr16_14430701_14635260 | 14633644 | AAGAGAAT others(18): Show |
A | upstream_gene_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0156 | 1 | 168 | 0.0060 | -25 | c.-35 others(36): Show |
PARN | ENSG00000140694.18 | transcript | ENST00000437198.7 | protein_coding | 3385 | chr16 | TogoVar | |||||||
PARP2_chr14_20338635_20362904 | 20347365 | TATATATA others(18): Show |
T | intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0022 | 1 | 418 | 0.0024 | -25 | c.324 others(40): Show |
PARP2 | ENSG00000129484.14 | transcript | ENST00000429687.8 | protein_coding | 4/15 | chr14 | TogoVar |