regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
P2RX1_chr17_3891592_3921465 | 3918430 | TTCCTCCT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02257.hp1 HG02559.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0002g0276a0001c0001t0003g0065a0001c0001t0006g0059others(3): Show | 6 | 378 | 0.0159 | -12 | c.-22 others(23): Show |
P2RX1 | ENSG00000108405.4 | transcript | ENST00000225538.4 | protein_coding | 1966 | chr17 | TogoVar | ||||||
P2RX2_chr12_132613776_132627388 | 132619164 | GCAGGGGC others(5): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00733.hp1 HG01346.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006 | a0001c0001t0001g0009a0001c0001t0001g0028a0001c0001t0004g0007others(2): Show | 21 | 386 | 0.0544 | -12 | c.173 others(27): Show |
P2RX2 | ENSG00000187848.15 | transcript | ENST00000643471.2 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
P2RX4_chr12_121205129_121239106 | 121212791 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG01243.hp1 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0280 | 1 | 388 | 0.0026 | -12 | c.134 others(29): Show |
P2RX4 | ENSG00000135124.16 | transcript | ENST00000337233.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
P2RX4_chr12_121205129_121239106 | 121219611 | GGATGGAT others(5): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02486.hp1 HG02717.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171a0001c0001t0001g0174a0001c0001t0001g0175others(2): Show | 5 | 388 | 0.0129 | -12 | c.283 others(29): Show |
P2RX4 | ENSG00000135124.16 | transcript | ENST00000337233.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
P2RX4_chr12_121205129_121239106 | 121219615 | GGATAGAT others(5): Show |
G | intron_variant | MODIFIER | HG02895.hp2 HG03209.hp2 HG03225.hp2 others(12): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0001a0001c0004t0001 | a0001c0001t0001g0017a0001c0001t0001g0198a0001c0001t0001g0208others(10): Show | 15 | 388 | 0.0387 | -12 | c.283 others(29): Show |
P2RX4 | ENSG00000135124.16 | transcript | ENST00000337233.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
P2RX4_chr12_121205129_121239106 | 121219828 | TTAGATAG others(5): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(82): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0099a0001c0003t0001g0023a0001c0003t0001g0267others(69): Show | 85 | 388 | 0.2191 | -12 | c.283 others(29): Show |
P2RX4 | ENSG00000135124.16 | transcript | ENST00000337233.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
P2RX5_chr17_3668227_3701155 | 3699913 | GGAAGGAA others(5): Show |
G | upstream_gene_variant | MODIFIER | HG01934.hp1 HG01934.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0277a0001c0001t0002g0271 | 2 | 362 | 0.0055 | -12 | c.-39 others(23): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 3759 | chr17 | TogoVar | ||||||
P2RX5_chr17_3668227_3701155 | 3699917 | GGAAAGAA others(5): Show |
G | upstream_gene_variant | MODIFIER | HG01109.hp2 NA20129.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0196a0002c0002t0001g0225 | 2 | 362 | 0.0055 | -12 | c.-39 others(23): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 3763 | chr17 | TogoVar | ||||||
P2RX6_chr22_21010165_21033008 | 21024878 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 460 | 0.0022 | -12 | c.891 others(27): Show |
P2RX6 | ENSG00000099957.17 | transcript | ENST00000413302.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
P2RX6_chr22_21010165_21033008 | 21032102 | ACCCGCTC others(5): Show |
A | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00438.hp2 others(86): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0002a0001c0001t0020a0001c0001t0024others(3): Show | a0001c0001t0002g0004a0001c0001t0002g0007a0001c0001t0002g0011others(44): Show | 89 | 460 | 0.1935 | -12 | c.*54 others(23): Show |
P2RX6 | ENSG00000099957.17 | transcript | ENST00000413302.7 | protein_coding | 4095 | chr22 | TogoVar | ||||||
P2RX7_chr12_121127876_121193032 | 121129834 | TGATATTT others(5): Show |
T | upstream_gene_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 366 | 0.0027 | -12 | c.-31 others(23): Show |
P2RX7 | ENSG00000089041.17 | transcript | ENST00000328963.10 | protein_coding | 3041 | chr12 | TogoVar | ||||||
P2RX7_chr12_121127876_121193032 | 121155792 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG02818.hp2 HG03225.hp1 HG03453.hp2 others(1): Show |
a0005 | a0005c0017 | a0005c0017t0005 | a0005c0017t0005g0214a0005c0017t0005g0215a0005c0017t0005g0216others(1): Show | 4 | 366 | 0.0109 | -12 | c.295 others(27): Show |
P2RX7 | ENSG00000089041.17 | transcript | ENST00000328963.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
P2RX7_chr12_121127876_121193032 | 121163597 | GTAGATAG others(5): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00741.hp2 HG02129.hp2 others(19): Show |
a0001a0006a0007others(4): Show | a0001c0001a0001c0043a0006c0005others(5): Show | a0001c0001t0001a0001c0043t0001a0006c0005t0002others(6): Show | a0001c0001t0001g0091a0001c0001t0001g0095a0001c0043t0001g0089others(19): Show | 22 | 366 | 0.0601 | -12 | c.533 others(29): Show |
P2RX7 | ENSG00000089041.17 | transcript | ENST00000328963.10 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
P2RX7_chr12_121127876_121193032 | 121176228 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG02559.hp2 HG02809.hp2 HG02970.hp2 others(6): Show |
a0004a0015 | a0004c0003a0015c0012 | a0004c0003t0007a0015c0012t0007a0015c0012t0019 | a0004c0003t0007g0248a0004c0003t0007g0249a0004c0003t0007g0250others(6): Show | 9 | 366 | 0.0246 | -12 | c.972 others(27): Show |
P2RX7 | ENSG00000089041.17 | transcript | ENST00000328963.10 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
P2RX7_chr12_121127876_121193032 | 121177687 | CATTTATT others(5): Show |
C | intron_variant | MODIFIER | HG02723.hp1 | a0032 | a0032c0035 | a0032c0035t0002 | a0032c0035t0002g0254 | 1 | 366 | 0.0027 | -12 | c.118 others(29): Show |
P2RX7 | ENSG00000089041.17 | transcript | ENST00000328963.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
P2RY10_chrX_78940391_78968727 | 78965522 | TTTTCTTT others(5): Show |
T | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00597.hp2 HG00639.hp2 others(16): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0024others(1): Show | a0001c0001t0001g0002a0001c0001t0003g0006a0001c0001t0003g0008others(10): Show | 19 | 322 | 0.0590 | -12 | c.*39 others(23): Show |
P2RY10 | ENSG00000078589.13 | transcript | ENST00000171757.3 | protein_coding | 1796 | chrX | TogoVar | ||||||
P2RY10_chrX_78940391_78968727 | 78965745 | CTTTCCTT others(5): Show |
C | downstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 322 | 0.0031 | -12 | c.*42 others(23): Show |
P2RY10 | ENSG00000078589.13 | transcript | ENST00000171757.3 | protein_coding | 2019 | chrX | TogoVar | ||||||
P2RY10_chrX_78940391_78968727 | 78965749 | CCTTTCTT others(5): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00423.hp2 others(42): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0009others(31): Show | 45 | 322 | 0.1398 | -12 | c.*42 others(23): Show |
P2RY10 | ENSG00000078589.13 | transcript | ENST00000171757.3 | protein_coding | 2023 | chrX | TogoVar | ||||||
P2RY10_chrX_78940391_78968727 | 78965833 | CCTTTCTT others(5): Show |
C | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00639.hp2 HG00738.hp1 others(20): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0007a0001c0001t0001g0067a0001c0001t0003g0006others(14): Show | 23 | 322 | 0.0714 | -12 | c.*42 others(23): Show |
P2RY10 | ENSG00000078589.13 | transcript | ENST00000171757.3 | protein_coding | 2107 | chrX | TogoVar | ||||||
P2RY12_chr3_151331843_151389753 | 151343361 | GATTTGAG others(5): Show |
G | intron_variant | MODIFIER | NA18987.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0267 | 1 | 396 | 0.0025 | -12 | c.-17 others(31): Show |
P2RY12 | ENSG00000169313.10 | transcript | ENST00000302632.4 | protein_coding | 1/2 | chr3 | TogoVar | ||||||
P2RY12_chr3_151331843_151389753 | 151348352 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG03516.hp2 NA19043.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0008 | a0001c0002t0002g0043a0001c0002t0008g0045 | 2 | 396 | 0.0051 | -12 | c.-17 others(31): Show |
P2RY12 | ENSG00000169313.10 | transcript | ENST00000302632.4 | protein_coding | 1/2 | chr3 | TogoVar | ||||||
P2RY14_chr3_151207117_151283542 | 151270196 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 404 | 0.0025 | -12 | c.-13 others(31): Show |
P2RY14 | ENSG00000174944.9 | transcript | ENST00000309170.8 | protein_coding | 1/2 | chr3 | TogoVar | ||||||
P2RY6_chr11_73267338_73303625 | 73290299 | AAAGAAAA others(5): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG02970.hp2 HG03139.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0160a0001c0001t0002g0039a0001c0001t0002g0040others(3): Show | 6 | 324 | 0.0185 | -12 | c.-12 others(31): Show |
P2RY6 | ENSG00000171631.16 | transcript | ENST00000540124.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
P2RY6_chr11_73267338_73303625 | 73290302 | GAAAAGAA others(5): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG02717.hp1 HG02818.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0149a0001c0001t0001g0154a0001c0001t0002g0051others(1): Show | 4 | 324 | 0.0124 | -12 | c.-12 others(31): Show |
P2RY6 | ENSG00000171631.16 | transcript | ENST00000540124.6 | protein_coding | 1/2 | chr11 | TogoVar | ||||||
P2RY6_chr11_73267338_73303625 | 73290303 | AAAAGAAA others(5): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp2 HG02040.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0063a0001c0001t0001g0094others(11): Show | 16 | 324 | 0.0494 | -12 | c.-12 others(31): Show |
P2RY6 | ENSG00000171631.16 | transcript | ENST00000540124.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
P2RY6_chr11_73267338_73303625 | 73290354 | AGAAAGAA others(5): Show |
A | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0047 | 1 | 324 | 0.0031 | -12 | c.-12 others(31): Show |
P2RY6 | ENSG00000171631.16 | transcript | ENST00000540124.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
P2RY8_chrX_1457581_1542185 | 1458580 | CATCTATC others(5): Show |
C | downstream_gene_variant | MODIFIER | HG00639.hp1 HG02622.hp1 NA19043.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0030a0001c0001t0031a0002c0002t0006 | a0001c0001t0030g0013a0001c0001t0031g0012a0002c0002t0006g0067 | 3 | 114 | 0.0263 | -12 | c.*68 others(23): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 4000 | chrX | TogoVar | ||||||
P2RY8_chrX_1457581_1542185 | 1459326 | CATCTATC others(5): Show |
C | downstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0004 | a0001c0004t0020 | a0001c0004t0020g0017 | 1 | 114 | 0.0088 | -12 | c.*61 others(23): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 3254 | chrX | TogoVar | ||||||
P2RY8_chrX_1457581_1542185 | 1461845 | CTCTCTCT others(5): Show |
C | downstream_gene_variant | MODIFIER | HG02723.hp1 HG02897.hp2 HG03195.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0003a0001c0003t0003a0001c0003t0011others(1): Show | a0001c0001t0003g0066a0001c0001t0003g0069a0001c0003t0003g0030others(4): Show | 7 | 114 | 0.0614 | -12 | c.*36 others(23): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 735 | chrX | TogoVar | ||||||
P2RY8_chrX_1457581_1542185 | 1469062 | TCCTTCCC others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(35): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(14): Show | a0001c0001t0001g0033a0001c0001t0001g0040a0001c0001t0001g0047others(35): Show | 38 | 114 | 0.3333 | -12 | c.-24 others(29): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | ||||||
P2RY8_chrX_1457581_1542185 | 1473377 | GTGGGTGG others(5): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(53): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0016a0001c0001t0001g0033a0001c0001t0001g0039others(53): Show | 56 | 114 | 0.4912 | -12 | c.-24 others(29): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | ||||||
P2RY8_chrX_1457581_1542185 | 1474556 | GTGGATGG others(5): Show |
G | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 NA18962.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056a0001c0001t0001g0057a0001c0001t0001g0103others(1): Show | 4 | 114 | 0.0351 | -12 | c.-24 others(29): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | ||||||
P2RY8_chrX_1457581_1542185 | 1508704 | TTCTATCT others(5): Show |
T | intron_variant | MODIFIER | HG03491.hp2 NA18906.hp1 NA18961.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0024a0002c0002t0009 | a0001c0001t0001g0064a0001c0001t0001g0072a0001c0001t0001g0077others(3): Show | 6 | 114 | 0.0526 | -12 | c.-25 others(31): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | ||||||
P2RY8_chrX_1457581_1542185 | 1509796 | CCTATCTA others(5): Show |
C | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0013 | 1 | 114 | 0.0088 | -12 | c.-25 others(31): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | ||||||
P2RY8_chrX_1457581_1542185 | 1524489 | CCATACAT others(5): Show |
C | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 114 | 0.0088 | -12 | c.-25 others(31): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | ||||||
P2RY8_chrX_1457581_1542185 | 1524557 | GCATCCAT others(5): Show |
G | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055a0001c0001t0001g0056a0001c0001t0001g0057 | 3 | 114 | 0.0263 | -12 | c.-25 others(31): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | ||||||
P3H2_chr3_189951728_190125897 | 189957441 | TTGTGTGT others(5): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00544.hp1 others(49): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0003a0001c0001t0007a0001c0002t0003others(8): Show | a0001c0001t0003g0055a0001c0001t0003g0099a0001c0001t0003g0193others(49): Show | 52 | 304 | 0.1711 | -12 | c.*45 others(21): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 15/15 | 459 | chr3 | TogoVar | |||||
P3H2_chr3_189951728_190125897 | 189958699 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp2 HG00639.hp2 others(40): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0023others(6): Show | a0001c0001t0001g0013a0001c0001t0001g0015a0001c0001t0001g0097others(40): Show | 43 | 304 | 0.1415 | -12 | c.203 others(29): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 14/14 | chr3 | TogoVar | ||||||
P3H2_chr3_189951728_190125897 | 189959860 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp2 HG00733.hp2 others(56): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(12): Show | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0053others(56): Show | 59 | 304 | 0.1941 | -12 | c.203 others(31): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 14/14 | chr3 | TogoVar | ||||||
P3H2_chr3_189951728_190125897 | 189966123 | AAAAGAAA others(5): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG01346.hp2 HG01433.hp1 others(27): Show |
a0001a0002a0009 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0125a0001c0001t0001g0136a0001c0001t0001g0159others(27): Show | 30 | 304 | 0.0987 | -12 | c.189 others(31): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 13/14 | chr3 | TogoVar | ||||||
P3H2_chr3_189951728_190125897 | 189970191 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG01884.hp1 HG02145.hp2 others(5): Show |
a0001a0006 | a0001c0001a0001c0003a0006c0008 | a0001c0001t0001a0001c0001t0005a0001c0001t0019others(3): Show | a0001c0001t0001g0168a0001c0001t0001g0266a0001c0001t0005g0033others(5): Show | 8 | 304 | 0.0263 | -12 | c.189 others(29): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 13/14 | chr3 | TogoVar | ||||||
P3H2_chr3_189951728_190125897 | 189973507 | CTTTCTTT others(5): Show |
C | intron_variant | MODIFIER | HG01069.hp2 NA19054.hp2 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0006 | a0001c0002t0003g0143a0001c0002t0006g0191 | 2 | 304 | 0.0066 | -12 | c.154 others(29): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 10/14 | chr3 | TogoVar | ||||||
P3H2_chr3_189951728_190125897 | 189995510 | GATCAATC others(5): Show |
G | intron_variant | MODIFIER | HG02258.hp2 HG03209.hp2 HG03453.hp2 others(2): Show |
a0001a0002 | a0001c0004a0002c0017a0002c0018 | a0001c0004t0002a0001c0004t0016a0002c0017t0007others(1): Show | a0001c0004t0002g0020a0001c0004t0002g0205a0001c0004t0016g0218others(2): Show | 5 | 304 | 0.0165 | -12 | c.481 others(25): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 1/14 | chr3 | TogoVar | ||||||
P3H2_chr3_189951728_190125897 | 190019783 | AAAATATA others(5): Show |
A | intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0225 | 1 | 304 | 0.0033 | -12 | c.481 others(31): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 1/14 | chr3 | TogoVar | ||||||
P3H2_chr3_189951728_190125897 | 190041029 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG03492.hp1 NA19043.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0027a0001c0002t0003 | a0001c0001t0027g0120a0001c0002t0003g0174 | 2 | 304 | 0.0066 | -12 | c.481 others(31): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 1/14 | chr3 | TogoVar | ||||||
P3H2_chr3_189951728_190125897 | 190041031 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG02723.hp1 HG03225.hp2 HG03486.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0001t0010others(1): Show | a0001c0001t0001g0296a0001c0001t0007g0098a0001c0001t0010g0084others(1): Show | 4 | 304 | 0.0132 | -12 | c.481 others(31): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 1/14 | chr3 | TogoVar | ||||||
P3H2_chr3_189951728_190125897 | 190041035 | TATACACA others(5): Show |
T | intron_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0016 | a0002c0016t0011 | a0002c0016t0011g0301 | 1 | 304 | 0.0033 | -12 | c.481 others(31): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 1/14 | chr3 | TogoVar | ||||||
P3H2_chr3_189951728_190125897 | 190042428 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(179): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0013a0001c0001t0001g0031a0001c0001t0001g0032others(179): Show | 182 | 304 | 0.5987 | -12 | c.481 others(31): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 1/14 | chr3 | TogoVar | ||||||
P3H2_chr3_189951728_190125897 | 190079341 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | HG04228.hp1 NA18906.hp2 NA20905.hp2 |
a0001a0002 | a0001c0001a0001c0003a0002c0016 | a0001c0001t0001a0001c0003t0001a0002c0016t0011 | a0001c0001t0001g0071a0001c0003t0001g0089a0002c0016t0011g0301 | 3 | 304 | 0.0099 | -12 | c.480 others(31): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 1/14 | chr3 | TogoVar | ||||||
P3H2_chr3_189951728_190125897 | 190095303 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | NA18963.hp2 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0264a0001c0001t0001g0282 | 2 | 304 | 0.0066 | -12 | c.480 others(31): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 1/14 | chr3 | TogoVar |