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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PATJ_chr1_61737480_62168915 | 61965121 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0059 | a0001c0059t0009 | a0001c0059t0009g0045 | 1 | 158 | 0.0063 | -19 | c.367 others(40): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 27/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PAWR_chr12_79579879_79695964 | 79613967 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0051 | 1 | 256 | 0.0039 | -19 | c.649 others(34): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 3/6 | chr12 | TogoVar | |||||||
PAX2_chr10_100740582_100834944 | 100742843 | CTTTTTTT others(12): Show |
C | upstream_gene_variant | MODIFIER | HG02970.hp2 HG04204.hp2 |
a0001 | a0001c0003 | a0001c0003t0006a0001c0003t0009 | a0001c0003t0006g0203 a0001c0003t0009g0179 |
2 | 232 | 0.0086 | -19 | c.-34 others(30): Show |
PAX2 | ENSG00000075891.24 | transcript | ENST00000355243.8 | protein_coding | 2738 | chr10 | TogoVar | |||||||
PAX3_chr2_222194887_222303998 | 222209696 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0145 | 1 | 328 | 0.0031 | -19 | c.117 others(38): Show |
PAX3 | ENSG00000135903.20 | transcript | ENST00000392070.7 | protein_coding | 7/8 | chr2 | TogoVar | |||||||
PAX7_chr1_18625846_18753866 | 18681726 | TTTTATTT others(12): Show |
T | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0282 | 1 | 302 | 0.0033 | -19 | c.587 others(38): Show |
PAX7 | ENSG00000009709.12 | transcript | ENST00000420770.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PAXIP1_chr7_154938690_155008124 | 154953133 | TAAGGTGA others(12): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG00621.hp2 others(46): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0008others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(7): Show | a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0002t0001g0002 others(31): Show |
49 | 362 | 0.1354 | -19 | c.282 others(38): Show |
PAXIP1 | ENSG00000157212.20 | transcript | ENST00000404141.6 | protein_coding | 16/20 | chr7 | TogoVar | |||||||
PBRM1_chr3_52540367_52690913 | 52596436 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01257.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0009 | a0001c0001t0002a0001c0001t0008a0002c0009t0017 | a0001c0001t0002g0060 a0001c0001t0002g0078 a0001c0001t0008g0111 others(1): Show |
4 | 300 | 0.0133 | -19 | c.282 others(38): Show |
PBRM1 | ENSG00000163939.19 | transcript | ENST00000707071.1 | protein_coding | 19/31 | chr3 | TogoVar | |||||||
PBRM1_chr3_52540367_52690913 | 52676134 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01069.hp2 HG01071.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 others(4): Show |
7 | 300 | 0.0233 | -19 | c.236 others(36): Show |
PBRM1 | ENSG00000163939.19 | transcript | ENST00000707071.1 | protein_coding | 3/31 | chr3 | TogoVar | |||||||
PBX1_chr1_164554184_164856831 | 164655455 | TGCTATGG others(12): Show |
T | intron_variant | MODIFIER | HG01070.hp2 NA18962.hp1 NA18984.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0017others(2): Show | a0001c0001t0001g0148 a0001c0001t0003g0119 a0001c0001t0017g0083 others(2): Show |
5 | 184 | 0.0272 | -19 | c.265 others(38): Show |
PBX1 | ENSG00000185630.20 | transcript | ENST00000420696.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PBX3_chr9_125742373_125972377 | 125943352 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG01943.hp1 HG02109.hp2 HG02647.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0205 a0001c0001t0001g0281 a0001c0001t0001g0287 others(4): Show |
7 | 294 | 0.0238 | -19 | c.843 others(36): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PBX4_chr19_19556713_19623687 | 19556747 | CAAAAAAA others(12): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00558.hp2 HG00642.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0072 others(11): Show |
14 | 376 | 0.0372 | -19 | c.*52 others(30): Show |
PBX4 | ENSG00000105717.14 | transcript | ENST00000251203.14 | protein_coding | 4965 | chr19 | TogoVar | |||||||
PBX4_chr19_19556713_19623687 | 19615071 | AGGAGAAT others(12): Show |
A | intron_variant | MODIFIER | NA18945.hp2 NA18946.hp2 NA18951.hp1 others(3): Show |
a0001a0007 | a0001c0001a0007c0004 | a0001c0001t0001a0007c0004t0001 | a0001c0001t0001g0001 a0001c0001t0001g0041 a0001c0001t0001g0042 others(1): Show |
6 | 376 | 0.0160 | -19 | c.119 others(36): Show |
PBX4 | ENSG00000105717.14 | transcript | ENST00000251203.14 | protein_coding | 1/7 | chr19 | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45784408 | CGCTACCG others(12): Show |
C | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0221 | 1 | 292 | 0.0034 | -19 | c.-12 others(40): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 4/17 | chr21 | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45860904 | AATGACTG others(12): Show |
A | intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 292 | 0.0034 | -19 | c.10+ others(36): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100488625 | TTTGTTTT others(12): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00597.hp2 others(42): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0011others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(2): Show | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(42): Show |
45 | 174 | 0.2586 | -19 | c.190 others(40): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92528183 | GAGAAGAT others(12): Show |
G | intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 154 | 0.0065 | -19 | c.336 others(40): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92626170 | CTGCACTC others(12): Show |
C | downstream_gene_variant | MODIFIER | HG02809.hp1 HG03130.hp1 HG03195.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0018 a0001c0001t0002g0049 a0001c0001t0002g0076 others(2): Show |
5 | 154 | 0.0325 | -19 | c.*72 others(30): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 2941 | chrX | TogoVar | |||||||
PCDH11Y_chrY_4995296_5747224 | 5393657 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 115 | 0.0087 | -19 | c.285 others(42): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
PCDH11Y_chrY_4995296_5747224 | 5682239 | GTTTTTTT others(12): Show |
G | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 115 | 0.0087 | -19 | c.307 others(40): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 53882128 | GAGAAAAG others(12): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00735.hp1 others(65): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0042a0002c0002others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(52): Show | a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0043 others(65): Show |
68 | 102 | 0.6667 | -19 | c.350 others(40): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 26/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 54174684 | CTTTTTTC others(12): Show |
C | intron_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0027 | 1 | 102 | 0.0098 | -19 | c.159 others(38): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 13/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 53882128 | GAGAAAAG others(12): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00735.hp1 others(62): Show |
a0001a0002a0003others(23): Show | a0001c0001a0001c0007a0002c0002others(35): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0001others(40): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0010 others(62): Show |
65 | 94 | 0.6915 | -19 | c.350 others(40): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 26/32 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 54174684 | CTTTTTTC others(12): Show |
C | intron_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0029 | a0002c0029t0001 | a0002c0029t0001g0024 | 1 | 94 | 0.0106 | -19 | c.159 others(38): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 13/32 | chr10 | TogoVar | |||||||
PCDH17_chr13_57626744_57734311 | 57641580 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0109 | 1 | 310 | 0.0032 | -19 | c.256 others(38): Show |
PCDH17 | ENSG00000118946.12 | transcript | ENST00000377918.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PCDH1_chr5_141848090_141883410 | 141876776 | CGGGACCC others(12): Show |
C | intron_variant | MODIFIER | HG03195.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0207 | 1 | 384 | 0.0026 | -19 | c.40+ others(34): Show |
PCDH1 | ENSG00000156453.14 | transcript | ENST00000287008.8 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
PCDH7_chr4_30715369_31151800 | 31056441 | GGAAAGAA others(12): Show |
G | intron_variant | MODIFIER | HG00609.hp2 HG00738.hp2 HG01081.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(3): Show | a0001c0001t0001g0115 a0001c0001t0003g0054 a0001c0001t0007g0197 others(5): Show |
8 | 214 | 0.0374 | -19 | c.339 others(40): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCDH7_chr4_30715369_31151800 | 31108369 | TAAAAAAA others(12): Show |
T | intron_variant | MODIFIER | HG01099.hp1 HG01993.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0097 a0001c0001t0006g0188 |
2 | 214 | 0.0094 | -19 | c.339 others(40): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCDH8_chr13_52837889_52853640 | 52841019 | GGAATAAT others(12): Show |
G | downstream_gene_variant | MODIFIER | HG02559.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 428 | 0.0047 | -19 | c.*35 others(30): Show |
PCDH8 | ENSG00000136099.13 | transcript | ENST00000377942.7 | protein_coding | 1869 | chr13 | TogoVar | |||||||
PCDH9_chr13_66297834_67235336 | 66717475 | AAAAAAAT others(12): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG01109.hp2 HG01167.hp2 others(10): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(5): Show | a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0055 others(10): Show |
13 | 80 | 0.1625 | -19 | c.313 others(40): Show |
PCDH9 | ENSG00000184226.15 | transcript | ENST00000377865.7 | protein_coding | 3/4 | chr13 | TogoVar | |||||||
PCDHB6_chr5_141145057_141158287 | 141149104 | GAATTCCA others(12): Show |
G | upstream_gene_variant | MODIFIER | HG00423.hp2 | a0016 | a0016c0041 | a0016c0041t0029 | a0016c0041t0029g0000 | 1 | 464 | 0.0022 | -19 | c.-11 others(30): Show |
PCDHB6 | ENSG00000113211.6 | transcript | ENST00000231136.4 | protein_coding | 952 | chr5 | TogoVar | |||||||
PCED1B_chr12_47074621_47241660 | 47077260 | CATTGAGG others(12): Show |
C | upstream_gene_variant | MODIFIER | HG03098.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 a0001c0001t0001g0070 |
2 | 322 | 0.0062 | -19 | c.-30 others(30): Show |
PCED1B | ENSG00000179715.13 | transcript | ENST00000546455.6 | protein_coding | 2360 | chr12 | TogoVar | |||||||
PCGF2_chr17_38728898_38753336 | 38745990 | CAACTGCG others(12): Show |
C | intron_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0174 | 1 | 401 | 0.0025 | -19 | c.-41 others(36): Show |
PCGF2 | ENSG00000277258.5 | transcript | ENST00000620225.5 | protein_coding | 2/10 | chr17 | TogoVar | |||||||
PCLAF_chr15_64359304_64386441 | 64377489 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02886.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0031 | a0001c0001t0001g0171 a0001c0001t0002g0106 a0001c0001t0031g0093 |
3 | 298 | 0.0101 | -19 | c.128 others(34): Show |
PCLAF | ENSG00000166803.14 | transcript | ENST00000300035.9 | protein_coding | 2/3 | chr15 | TogoVar | |||||||
PCLO_chr7_82749012_83167884 | 82958325 | TCCTTCTT others(12): Show |
T | intron_variant | MODIFIER | HG02622.hp1 HG02886.hp1 HG02895.hp1 others(3): Show |
a0007a0042 | a0007c0008a0007c0076a0042c0047 | a0007c0008t0003a0007c0076t0003a0042c0047t0008 | a0007c0008t0003g0119 a0007c0008t0003g0120 a0007c0008t0003g0182 others(3): Show |
6 | 188 | 0.0319 | -19 | c.401 others(38): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 4/24 | chr7 | TogoVar | |||||||
PCLO_chr7_82749012_83167884 | 83057336 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG03486.hp2 | a0009 | a0009c0087 | a0009c0087t0015 | a0009c0087t0015g0001 | 1 | 188 | 0.0053 | -19 | c.330 others(40): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | |||||||
PCM1_chr8_17917988_18034948 | 18001995 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG01070.hp1 HG01168.hp2 others(6): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0053a0003c0003t0002 | a0001c0001t0001g0058 a0002c0002t0053g0289 a0003c0003t0002g0156 others(6): Show |
9 | 368 | 0.0245 | -19 | c.482 others(38): Show |
PCM1 | ENSG00000078674.20 | transcript | ENST00000325083.13 | protein_coding | 29/38 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PCMTD1_chr8_51812583_51904036 | 51851850 | ATGTTGGT others(12): Show |
A | intron_variant | MODIFIER | NA19072.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0262 | 1 | 336 | 0.0030 | -19 | c.308 others(36): Show |
PCMTD1 | ENSG00000168300.14 | transcript | ENST00000522514.6 | protein_coding | 2/5 | chr8 | TogoVar | |||||||
PCNA_chr20_5109953_5124958 | 5111607 | TAAAAAAA others(12): Show |
T | downstream_gene_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 390 | 0.0026 | -19 | c.*36 others(30): Show |
PCNA | ENSG00000132646.11 | transcript | ENST00000379143.10 | protein_coding | 3345 | chr20 | TogoVar | |||||||
PCNT_chr21_46319156_46450769 | 46380145 | ATTTTTTT others(12): Show |
A | intron_variant | MODIFIER | NA18949.hp2 | a0059 | a0059c0052 | a0059c0052t0001 | a0059c0052t0001g0194 | 1 | 332 | 0.0030 | -19 | c.316 others(38): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 15/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCNT_chr21_46319156_46450769 | 46441673 | TCCTTCCA others(12): Show |
T | intron_variant | MODIFIER | NA18941.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0191 | 1 | 332 | 0.0030 | -19 | c.962 others(36): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 43/46 | chr21 | TogoVar | |||||||
PCNX2_chr1_232978435_233300725 | 233067365 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG01952.hp1 HG02015.hp2 NA18983.hp1 others(2): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0098 a0001c0009t0001g0074 a0001c0009t0001g0078 others(2): Show |
5 | 146 | 0.0343 | -19 | c.407 others(40): Show |
PCNX2 | ENSG00000135749.20 | transcript | ENST00000258229.14 | protein_coding | 23/33 | chr1 | TogoVar | |||||||
PCNX3_chr11_65610776_65642439 | 65630257 | CAGCAGGC others(12): Show |
C | intron_variant | MODIFIER | NA19076.hp2 | a0024 | a0024c0044 | a0024c0044t0005 | a0024c0044t0005g0089 | 1 | 396 | 0.0025 | -19 | c.421 others(34): Show |
PCNX3 | ENSG00000197136.5 | transcript | ENST00000355703.4 | protein_coding | 26/34 | chr11 | TogoVar | |||||||
PCSK1_chr5_96385333_96438248 | 96423260 | GTGTCTGC others(12): Show |
G | intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0352 | 1 | 392 | 0.0026 | -19 | c.543 others(32): Show |
PCSK1 | ENSG00000175426.11 | transcript | ENST00000311106.8 | protein_coding | 4/13 | chr5 | TogoVar | |||||||
PCSK1_chr5_96385333_96438248 | 96425005 | AAGAAAAG others(12): Show |
A | intron_variant | MODIFIER | HG03041.hp2 | a0005 | a0005c0008 | a0005c0008t0011 | a0005c0008t0011g0153 | 1 | 392 | 0.0026 | -19 | c.396 others(34): Show |
PCSK1 | ENSG00000175426.11 | transcript | ENST00000311106.8 | protein_coding | 3/13 | chr5 | TogoVar | |||||||
PCSK5_chr9_75885673_76367975 | 75994396 | CTTTCTTT others(12): Show |
C | intron_variant | MODIFIER | HG01192.hp2 HG01358.hp2 HG02723.hp1 others(2): Show |
a0001a0003a0008others(2): Show | a0001c0001a0003c0100a0008c0003others(2): Show | a0001c0001t0005a0003c0100t0017a0008c0003t0001others(2): Show | a0001c0001t0005g0047 a0003c0100t0017g0043 a0008c0003t0001g0145 others(2): Show |
5 | 166 | 0.0301 | -19 | c.411 others(36): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PCSK5_chr9_75885673_76367975 | 75994400 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG01358.hp1 HG01496.hp1 |
a0004a0013 | a0004c0026a0013c0020 | a0004c0026t0052a0013c0020t0003 | a0004c0026t0052g0089 a0013c0020t0003g0154 |
2 | 166 | 0.0121 | -19 | c.411 others(36): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PCSK5_chr9_75885673_76367975 | 76173496 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01255.hp1 HG01346.hp2 others(10): Show |
a0001a0003a0004others(6): Show | a0001c0001a0003c0005a0003c0051others(8): Show | a0001c0001t0005a0003c0005t0003a0003c0005t0006others(10): Show | a0001c0001t0005g0025 a0003c0005t0003g0147 a0003c0005t0006g0033 others(10): Show |
13 | 166 | 0.0783 | -19 | c.175 others(38): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 13/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PCSK5_chr9_75885673_76367975 | 76265922 | AATTCTCT others(12): Show |
A | intron_variant | MODIFIER | HG02683.hp1 | a0003 | a0003c0005 | a0003c0005t0006 | a0003c0005t0006g0033 | 1 | 166 | 0.0060 | -19 | c.314 others(40): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 24/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PCYT1B_chrX_24553087_24652347 | 24593437 | CTTTCTTT others(12): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG01884.hp2 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0020 | a0001c0001t0006g0155 a0001c0001t0006g0156 a0001c0001t0020g0137 |
3 | 260 | 0.0115 | -19 | c.335 others(36): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 3/7 | chrX | TogoVar | |||||||
PCYT1B_chrX_24553087_24652347 | 24651465 | AAAAAAAA others(12): Show |
A | upstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0002 | a0001c0002t0072 | a0001c0002t0072g0161 | 1 | 260 | 0.0039 | -19 | c.-43 others(30): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 4119 | chrX | TogoVar |