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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PARP2_chr14_20338635_20362904 | 20347382 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0163 | 1 | 418 | 0.0024 | -25 | c.324 others(40): Show |
PARP2 | ENSG00000129484.14 | transcript | ENST00000429687.8 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PARP9_chr3_122522924_122569300 | 122562156 | CTCTTTTC others(18): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG02486.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0026 | 2 | 158 | 0.0127 | -25 | c.-90 others(42): Show |
PARP9 | ENSG00000138496.17 | transcript | ENST00000682323.1 | protein_coding | 1/10 | chr3 | TogoVar | |||||||
PARVA_chr11_12372571_12540356 | 12372801 | CAGGTTTT others(18): Show |
C | upstream_gene_variant | MODIFIER | HG01070.hp1 HG02738.hp1 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0026a0001c0001t0040 | a0001c0001t0003g0271 a0001c0001t0026g0269 a0001c0001t0040g0270 |
3 | 284 | 0.0106 | -25 | c.-48 others(36): Show |
PARVA | ENSG00000197702.14 | transcript | ENST00000334956.15 | protein_coding | 4769 | chr11 | TogoVar | |||||||
PARVB_chr22_44019302_44177939 | 44023537 | CAAAATAA others(18): Show |
C | upstream_gene_variant | MODIFIER | HG01109.hp2 HG01433.hp1 HG01884.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0005a0001c0001t0008a0001c0001t0017others(7): Show | a0001c0001t0005g0328 a0001c0001t0008g0091 a0001c0001t0008g0149 others(9): Show |
12 | 183 | 0.0656 | -25 | c.-80 others(34): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 764 | chr22 | TogoVar | |||||||
PARVG_chr22_44175925_44213469 | 44199190 | TACCCAGT others(18): Show |
T | intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0222 | 1 | 420 | 0.0024 | -25 | c.813 others(40): Show |
PARVG | ENSG00000138964.17 | transcript | ENST00000444313.8 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PAWR_chr12_79579879_79695964 | 79613973 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG01074.hp2 | a0003 | a0003c0004 | a0003c0004t0009 | a0003c0004t0009g0159 | 1 | 250 | 0.0040 | -25 | c.649 others(40): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 3/6 | chr12 | TogoVar | |||||||
PAWR_chr12_79579879_79695964 | 79638880 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG01074.hp2 HG03195.hp2 |
a0003 | a0003c0004 | a0003c0004t0009 | a0003c0004t0009g0156 a0003c0004t0009g0159 |
2 | 252 | 0.0079 | -25 | c.517 others(44): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 2/6 | chr12 | TogoVar | |||||||
PAX3_chr2_222194887_222303998 | 222260566 | TTTTTTTT others(18): Show |
T | intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 314 | 0.0032 | -25 | c.587 others(44): Show |
PAX3 | ENSG00000135903.20 | transcript | ENST00000392070.7 | protein_coding | 4/8 | chr2 | TogoVar | |||||||
PAX5_chr9_36828269_37039268 | 36973078 | CGGAACGG others(18): Show |
C | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0220 | 1 | 269 | 0.0037 | -25 | c.605 others(42): Show |
PAX5 | ENSG00000196092.14 | transcript | ENST00000358127.9 | protein_coding | 5/9 | chr9 | TogoVar | |||||||
PAX5_chr9_36828269_37039268 | 36973110 | GAAAGGAA others(18): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG02523.hp2 HG02572.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0002g0223 others(6): Show |
9 | 272 | 0.0331 | -25 | c.605 others(42): Show |
PAX5 | ENSG00000196092.14 | transcript | ENST00000358127.9 | protein_coding | 5/9 | chr9 | TogoVar | |||||||
PAX8_chr2_113210997_113283921 | 113224814 | AATAAAAA others(18): Show |
A | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0039 | 1 | 298 | 0.0034 | -25 | c.118 others(44): Show |
PAX8 | ENSG00000125618.18 | transcript | ENST00000429538.8 | protein_coding | 10/11 | chr2 | TogoVar | |||||||
PAX8_chr2_113210997_113283921 | 113224839 | TATAAAAT others(18): Show |
T | intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 18 | 0.0556 | -25 | c.118 others(44): Show |
PAX8 | ENSG00000125618.18 | transcript | ENST00000429538.8 | protein_coding | 10/11 | chr2 | TogoVar | |||||||
PBDC1_chrX_76168062_76183314 | 76173508 | TCACTGCG others(18): Show |
T | intron_variant | MODIFIER | HG02155.hp1 NA18970.hp1 NA19011.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0025 |
3 | 291 | 0.0103 | -25 | c.31- others(36): Show |
PBDC1 | ENSG00000102390.11 | transcript | ENST00000373358.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PBX1_chr1_164554184_164856831 | 164750454 | ATTCTCAA others(18): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0039 a0001c0001t0004g0112 |
2 | 184 | 0.0109 | -25 | c.266 others(44): Show |
PBX1 | ENSG00000185630.20 | transcript | ENST00000420696.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PBX3_chr9_125742373_125972377 | 125943352 | CAAAAAAA others(18): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00609.hp1 others(33): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0003others(3): Show | a0001c0001t0002g0075 a0001c0001t0003g0101 a0001c0002t0003g0144 others(33): Show |
36 | 40 | 0.9000 | -25 | c.843 others(42): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PBX4_chr19_19556713_19623687 | 19560958 | CAGGCTGG others(18): Show |
C | downstream_gene_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 374 | 0.0027 | -25 | c.*10 others(36): Show |
PBX4 | ENSG00000105717.14 | transcript | ENST00000251203.14 | protein_coding | 754 | chr19 | TogoVar | |||||||
PBX4_chr19_19556713_19623687 | 19570813 | GAATGCCA others(18): Show |
G | frameshift_variant others(3): Show |
HIGH | NA18946.hp2 | a0007 | a0007c0004 | a0007c0004t0001 | a0007c0004t0001g0056 | 1 | 374 | 0.0027 | -25 | c.194 others(34): Show |
p.Val others(4): Show |
PBX4 | ENSG00000105717.14 | transcript | ENST00000251203.14 | protein_coding | 3/8 | 271/1495 | 194/1125 | 65/374 | chr19 | TogoVar | |||
PCCA_chr13_100084093_100535435 | 100422065 | TTTTCTTT others(18): Show |
T | intron_variant | MODIFIER | HG02886.hp1 HG03516.hp1 HG03654.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0121 others(3): Show |
6 | 147 | 0.0408 | -25 | c.174 others(44): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 54274676 | CACTGTTA others(18): Show |
C | intron_variant | MODIFIER | HG03098.hp2 HG03942.hp2 NA20905.hp2 |
a0001a0003a0006 | a0001c0001a0003c0003a0006c0006 | a0001c0001t0001a0003c0003t0002a0006c0006t0005 | a0001c0001t0001g0006 a0003c0003t0002g0020 a0006c0006t0005g0059 |
3 | 100 | 0.0300 | -25 | c.877 others(44): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 8/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 54622692 | TATATATT others(18): Show |
T | intron_variant | MODIFIER | HG03209.hp1 | a0006 | a0006c0006 | a0006c0006t0010 | a0006c0006t0010g0024 | 1 | 100 | 0.0100 | -25 | c.91+ others(42): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 2/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 54761683 | AAAAACAA others(18): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG02258.hp1 HG02615.hp2 others(4): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0008a0002c0002t0008others(4): Show | a0001c0001t0001g0089 a0001c0001t0008g0003 a0002c0002t0008g0017 others(4): Show |
7 | 12 | 0.5833 | -25 | c.-29 others(44): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 1/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 54274676 | CACTGTTA others(18): Show |
C | intron_variant | MODIFIER | HG03098.hp2 HG03942.hp2 NA20905.hp1 |
a0001a0003a0006 | a0001c0001a0003c0005a0006c0008 | a0001c0001t0001a0003c0005t0001a0006c0008t0001 | a0001c0001t0001g0006 a0003c0005t0001g0020 a0006c0008t0001g0055 |
3 | 92 | 0.0326 | -25 | c.877 others(44): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 8/32 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 54622692 | TATATATT others(18): Show |
T | intron_variant | MODIFIER | HG03209.hp2 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0023 | 1 | 92 | 0.0109 | -25 | c.91+ others(42): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 2/32 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 54761683 | AAAAACAA others(18): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG02258.hp1 HG02615.hp2 others(4): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0002c0002t0002a0003c0003t0002others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0081 a0002c0002t0002g0017 others(4): Show |
7 | 11 | 0.6364 | -25 | c.-29 others(44): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 1/32 | chr10 | TogoVar | |||||||
PCDH18_chr4_137513918_137537494 | 137517489 | ATTTATTT others(18): Show |
A | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02451.hp1 HG04184.hp1 |
a0001a0002 | a0001c0001a0002c0009 | a0001c0001t0026a0001c0001t0029a0002c0009t0012 | a0001c0001t0026g0104 a0001c0001t0029g0119 a0002c0009t0012g0064 |
3 | 134 | 0.0224 | -25 | c.*35 others(36): Show |
PCDH18 | ENSG00000189184.12 | transcript | ENST00000344876.9 | protein_coding | 1428 | chr4 | TogoVar | |||||||
PCDH7_chr4_30715369_31151800 | 30894479 | AAAAAAAA others(18): Show |
A | intron_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0134 | 1 | 206 | 0.0049 | -25 | c.317 others(46): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCDH9_chr13_66297834_67235336 | 66594468 | GTTTATTT others(18): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG02132.hp2 HG02809.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(1): Show | a0001c0001t0001g0055 a0001c0001t0003g0054 a0001c0002t0002g0009 others(2): Show |
5 | 8 | 0.6250 | -25 | c.334 others(46): Show |
PCDH9 | ENSG00000184226.15 | transcript | ENST00000377865.7 | protein_coding | 4/4 | chr13 | TogoVar | |||||||
PCDHB6_chr5_141145057_141158287 | 141146296 | CAGAATAC others(18): Show |
C | upstream_gene_variant | MODIFIER | HG02622.hp2 NA18906.hp1 NA19240.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0003c0003t0003 | a0001c0001t0003g0000 a0003c0003t0003g0000 |
3 | 462 | 0.0065 | -25 | c.-39 others(36): Show |
PCDHB6 | ENSG00000113211.6 | transcript | ENST00000231136.4 | protein_coding | 3760 | chr5 | TogoVar | |||||||
PCGF3_chr4_700832_775089 | 701973 | CAAAGAAA others(18): Show |
C | upstream_gene_variant | MODIFIER | HG01081.hp1 HG02280.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0026 | a0001c0001t0001g0205 a0001c0001t0026g0119 |
2 | 66 | 0.0303 | -25 | c.-41 others(36): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 3858 | chr4 | TogoVar | |||||||
PCLO_chr7_82749012_83167884 | 82978834 | AAACACAC others(18): Show |
A | intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0140 | 1 | 186 | 0.0054 | -25 | c.330 others(46): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | |||||||
PCLO_chr7_82749012_83167884 | 82999494 | TATATAAT others(18): Show |
T | intron_variant | MODIFIER | HG00597.hp1 HG00621.hp2 HG00741.hp1 others(15): Show |
a0001a0002a0004others(4): Show | a0001c0001a0002c0011a0002c0022others(11): Show | a0001c0001t0004a0001c0001t0005a0002c0011t0001others(13): Show | a0001c0001t0004g0087 a0001c0001t0004g0092 a0001c0001t0004g0150 others(15): Show |
18 | 79 | 0.2278 | -25 | c.330 others(46): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | |||||||
PCNA_chr20_5109953_5124958 | 5111607 | TAAAAAAA others(18): Show |
T | downstream_gene_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 71 | 0.0141 | -25 | c.*36 others(36): Show |
PCNA | ENSG00000132646.11 | transcript | ENST00000379143.10 | protein_coding | 3345 | chr20 | TogoVar | |||||||
PCOLCE2_chr3_142812874_142894083 | 142854329 | AGTTGATC others(18): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(175): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0104 others(166): Show |
178 | 340 | 0.5235 | -25 | c.193 others(42): Show |
PCOLCE2 | ENSG00000163710.9 | transcript | ENST00000295992.8 | protein_coding | 2/8 | chr3 | TogoVar | |||||||
PCP4L1_chr1_161253745_161290450 | 161282372 | GCGTGGAA others(18): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00558.hp1 others(51): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0011 others(36): Show |
54 | 400 | 0.1350 | -25 | c.10- others(40): Show |
PCP4L1 | ENSG00000248485.2 | transcript | ENST00000504449.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PCSK2_chr20_17222040_17489578 | 17348031 | GAAGAAAG others(18): Show |
G | intron_variant | MODIFIER | HG01346.hp2 HG01516.hp2 HG01517.hp1 others(5): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0002a0001c0001t0007a0001c0001t0009others(2): Show | a0001c0001t0002g0065 a0001c0001t0002g0162 a0001c0001t0002g0166 others(5): Show |
8 | 260 | 0.0308 | -25 | c.283 others(44): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PCSK5_chr9_75885673_76367975 | 75893075 | GGAATGGA others(18): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG00741.hp1 HG00741.hp2 others(11): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0009a0002c0019others(9): Show | a0001c0001t0026a0002c0009t0025a0002c0019t0011others(10): Show | a0001c0001t0026g0087 a0001c0001t0026g0093 a0002c0009t0025g0084 others(11): Show |
14 | 164 | 0.0854 | -25 | c.192 others(42): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PCSK5_chr9_75885673_76367975 | 75994396 | CTTTCTTT others(18): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG01168.hp2 HG01169.hp2 others(3): Show |
a0005a0008a0009others(1): Show | a0005c0002a0008c0003a0009c0021others(1): Show | a0005c0002t0009a0008c0003t0005a0009c0021t0011others(1): Show | a0005c0002t0009g0153 a0005c0002t0009g0157 a0005c0002t0009g0162 others(3): Show |
6 | 83 | 0.0723 | -25 | c.411 others(42): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PCSK5_chr9_75885673_76367975 | 76175222 | AAATGGAA others(18): Show |
A | intron_variant | MODIFIER | HG01346.hp2 HG01516.hp2 HG02055.hp2 others(11): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0016a0002c0047others(9): Show | a0001c0001t0027a0002c0016t0019a0002c0047t0045others(11): Show | a0001c0001t0027g0018 a0002c0016t0019g0064 a0002c0047t0045g0128 others(11): Show |
14 | 143 | 0.0979 | -25 | c.190 others(42): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PCSK6_chr15_101298933_101494707 | 101311636 | TCCCTCAC others(18): Show |
T | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0041 | 1 | 261 | 0.0038 | -25 | c.269 others(44): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 20/21 | chr15 | TogoVar | |||||||
PCSK6_chr15_101298933_101494707 | 101311806 | CGTCACCC others(18): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG01358.hp2 HG01496.hp1 others(13): Show |
a0001a0002a0005others(1): Show | a0001c0002a0001c0003a0001c0004others(7): Show | a0001c0002t0003a0001c0003t0003a0001c0004t0001others(8): Show | a0001c0002t0003g0244 a0001c0002t0003g0283 a0001c0002t0003g0289 others(13): Show |
16 | 334 | 0.0479 | -25 | c.269 others(44): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 20/21 | chr15 | TogoVar | |||||||
PCSK6_chr15_101298933_101494707 | 101312150 | CCACCCCA others(18): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02559.hp2 HG02630.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0009a0001c0002t0003a0001c0004t0003others(4): Show | a0001c0001t0009g0291 a0001c0002t0003g0244 a0001c0002t0003g0283 others(7): Show |
10 | 320 | 0.0313 | -25 | c.269 others(44): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 20/21 | chr15 | TogoVar | |||||||
PCYT1B_chrX_24553087_24652347 | 24593441 | CTTTCTTT others(18): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG01069.hp1 others(40): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(16): Show | a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0054 others(40): Show |
43 | 102 | 0.4216 | -25 | c.335 others(42): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 3/7 | chrX | TogoVar | |||||||
PDE10A_chr6_165322289_165668241 | 165384646 | GTGTGTGT others(18): Show |
G | intron_variant | MODIFIER | HG02976.hp1 HG03098.hp1 HG03098.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0009a0001c0001t0033others(4): Show | a0001c0001t0002g0088 a0001c0001t0002g0135 a0001c0001t0009g0147 others(5): Show |
8 | 220 | 0.0364 | -25 | c.261 others(44): Show |
PDE10A | ENSG00000112541.19 | transcript | ENST00000539869.4 | protein_coding | 17/21 | chr6 | TogoVar | |||||||
PDE1C_chr7_31746179_32075407 | 31964358 | GCTAGCAC others(18): Show |
G | intron_variant | MODIFIER | NA20805.hp2 | a0006 | a0006c0016 | a0006c0016t0001 | a0006c0016t0001g0188 | 1 | 260 | 0.0038 | -25 | c.129 others(44): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 2/17 | chr7 | TogoVar | |||||||
PDE3A_chr12_20363537_20693583 | 20467933 | CAAAAAAA others(18): Show |
C | intron_variant | MODIFIER | HG01257.hp1 NA19030.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0003t0070 | a0001c0001t0004g0176 a0001c0003t0070g0129 |
2 | 5 | 0.4000 | -25 | c.961 others(44): Show |
PDE3A | ENSG00000172572.7 | transcript | ENST00000359062.4 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PDE4D_chr5_58964038_59898726 | 59031367 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02622.hp2 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0018 | a0001c0001t0017g0002 a0001c0001t0018g0018 |
2 | 74 | 0.0270 | -25 | c.921 others(42): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 6/14 | chr5 | TogoVar | |||||||
PDE4D_chr5_58964038_59898726 | 59668897 | GAAGAAGA others(18): Show |
G | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0018 | 1 | 74 | 0.0135 | -25 | c.455 others(46): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | |||||||
PDE6A_chr5_149852953_149949793 | 149923503 | AATAACAT others(18): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG01081.hp1 HG01167.hp2 others(23): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0022 a0001c0001t0001g0057 a0001c0001t0001g0058 others(23): Show |
26 | 133 | 0.1955 | -25 | c.859 others(42): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 4/21 | chr5 | TogoVar | |||||||
PDE9A_chr21_42648621_42780509 | 42650124 | CCCAGCCT others(18): Show |
C | upstream_gene_variant | MODIFIER | HG00609.hp2 NA18940.hp1 NA18985.hp1 others(2): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0189 a0001c0003t0001g0140 a0001c0003t0001g0190 others(2): Show |
5 | 322 | 0.0155 | -25 | c.-36 others(36): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 3496 | chr21 | TogoVar | |||||||
PDE9A_chr21_42648621_42780509 | 42769473 | TGCAGGTA others(18): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(243): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0018 others(240): Show |
246 | 322 | 0.7640 | -25 | c.159 others(42): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar |