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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
P2RX5_chr17_3668227_3701155 | 3686705 | T | TCCCCCGC | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00735.hp1 others(28): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0135others(25): Show | 31 | 362 | 0.0856 | 7 | c.981 others(24): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | ||||||
P2RX5_chr17_3668227_3701155 | 3687038 | T | TCCCCCGC | intron_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG00741.hp1 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0011a0001c0001t0001g0123a0001c0001t0001g0252others(11): Show | 15 | 362 | 0.0414 | 7 | c.981 others(22): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | ||||||
P2RX5_chr17_3668227_3701155 | 3687167 | T | TCCCCCGC | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01081.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0011a0001c0001t0001g0054a0001c0001t0001g0055others(5): Show | 9 | 362 | 0.0249 | 7 | c.981 others(22): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | ||||||
P2RX5_chr17_3668227_3701155 | 3687364 | T | TCCCCCGC | intron_variant | MODIFIER | HG00099.hp2 HG01257.hp1 HG02622.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0307a0001c0001t0001g0328a0001c0001t0002g0330others(1): Show | 4 | 362 | 0.0111 | 7 | c.981 others(22): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | ||||||
P2RX7_chr12_121127876_121193032 | 121147605 | G | GTTGTTGT | intron_variant | MODIFIER | HG02818.hp2 HG03453.hp2 HG03486.hp1 |
a0005 | a0005c0017 | a0005c0017t0005 | a0005c0017t0005g0214a0005c0017t0005g0215a0005c0017t0005g0216 | 3 | 366 | 0.0082 | 7 | c.126 others(24): Show |
P2RX7 | ENSG00000089041.17 | transcript | ENST00000328963.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
P2RX7_chr12_121127876_121193032 | 121171862 | C | CTTTCTTT | intron_variant | MODIFIER | NA18945.hp2 NA18947.hp1 NA18950.hp2 others(15): Show |
a0009a0010a0015others(1): Show | a0009c0009a0010c0010a0015c0012others(1): Show | a0009c0009t0006a0010c0010t0006a0015c0012t0006others(1): Show | a0009c0009t0006g0266a0009c0009t0006g0267a0009c0009t0006g0268others(15): Show | 18 | 366 | 0.0492 | 7 | c.882 others(24): Show |
P2RX7 | ENSG00000089041.17 | transcript | ENST00000328963.10 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
P2RX7_chr12_121127876_121193032 | 121175176 | T | TTTGTACA | intron_variant | MODIFIER | HG01099.hp1 HG01109.hp1 HG01884.hp1 others(11): Show |
a0011a0019a0024 | a0011c0011a0019c0022a0024c0027 | a0011c0011t0004a0011c0011t0005a0019c0022t0005others(1): Show | a0011c0011t0004g0181a0011c0011t0004g0182a0011c0011t0004g0183others(10): Show | 14 | 366 | 0.0383 | 7 | c.882 others(22): Show |
P2RX7 | ENSG00000089041.17 | transcript | ENST00000328963.10 | protein_coding | 8/12 | chr12 | TogoVar | ||||||
P2RX7_chr12_121127876_121193032 | 121175310 | C | CAAAAAAA | intron_variant | MODIFIER | HG01069.hp2 HG01517.hp2 HG01981.hp2 others(8): Show |
a0005a0012a0018 | a0005c0017a0012c0013a0018c0026others(1): Show | a0005c0017t0005a0012c0013t0005a0018c0026t0016others(1): Show | a0005c0017t0005g0215a0005c0017t0005g0290a0012c0013t0005g0006others(8): Show | 11 | 366 | 0.0301 | 7 | c.882 others(20): Show |
P2RX7 | ENSG00000089041.17 | transcript | ENST00000328963.10 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
P2RY10_chrX_78940391_78968727 | 78965403 | A | ATTTTCTT | downstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 322 | 0.0031 | 7 | c.*38 others(18): Show |
P2RY10 | ENSG00000078589.13 | transcript | ENST00000171757.3 | protein_coding | 1677 | chrX | TogoVar | ||||||
P2RY10_chrX_78940391_78968727 | 78965406 | T | TTCTTTTC | downstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01243.hp1 others(10): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0022others(2): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0012others(8): Show | 13 | 322 | 0.0404 | 7 | c.*38 others(18): Show |
P2RY10 | ENSG00000078589.13 | transcript | ENST00000171757.3 | protein_coding | 1680 | chrX | TogoVar | ||||||
P2RY10_chrX_78940391_78968727 | 78965579 | T | TTTCTTTC | downstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 322 | 0.0031 | 7 | c.*40 others(18): Show |
P2RY10 | ENSG00000078589.13 | transcript | ENST00000171757.3 | protein_coding | 1853 | chrX | TogoVar | ||||||
P2RY10_chrX_78940391_78968727 | 78965742 | T | TTCCTTCC | downstream_gene_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0069 | 1 | 322 | 0.0031 | 7 | c.*42 others(18): Show |
P2RY10 | ENSG00000078589.13 | transcript | ENST00000171757.3 | protein_coding | 2016 | chrX | TogoVar | ||||||
P2RY10_chrX_78940391_78968727 | 78965799 | T | TTTCTTTC | downstream_gene_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 322 | 0.0031 | 7 | c.*42 others(18): Show |
P2RY10 | ENSG00000078589.13 | transcript | ENST00000171757.3 | protein_coding | 2073 | chrX | TogoVar | ||||||
P2RY12_chr3_151331843_151389753 | 151336694 | T | TGAAATGA | downstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01243.hp1 others(28): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0003a0001c0001t0012a0001c0001t0013others(1): Show | a0001c0001t0003g0007a0001c0001t0003g0024a0001c0001t0003g0025others(24): Show | 31 | 396 | 0.0783 | 7 | c.*11 others(18): Show |
P2RY12 | ENSG00000169313.10 | transcript | ENST00000302632.4 | protein_coding | 148 | chr3 | TogoVar | ||||||
P2RY12_chr3_151331843_151389753 | 151354140 | C | CAAAAAAA | intron_variant | MODIFIER | HG00423.hp1 HG01081.hp2 HG02015.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0035a0001c0001t0001g0149a0001c0001t0001g0179others(6): Show | 11 | 396 | 0.0278 | 7 | c.-17 others(28): Show |
P2RY12 | ENSG00000169313.10 | transcript | ENST00000302632.4 | protein_coding | 1/2 | chr3 | TogoVar | ||||||
P2RY14_chr3_151207117_151283542 | 151269441 | A | ACACACAC | intron_variant | MODIFIER | HG01952.hp2 HG02897.hp1 NA18989.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0013a0001c0002t0003 | a0001c0001t0001g0199a0001c0001t0013g0217a0001c0002t0003g0093 | 3 | 404 | 0.0074 | 7 | c.-13 others(26): Show |
P2RY14 | ENSG00000174944.9 | transcript | ENST00000309170.8 | protein_coding | 1/2 | chr3 | TogoVar | ||||||
P2RY14_chr3_151207117_151283542 | 151270242 | T | TGTGTGTG | intron_variant | MODIFIER | HG02155.hp1 HG02155.hp2 HG02965.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0003 | a0001c0001t0001g0078a0001c0001t0001g0244a0001c0001t0001g0275others(2): Show | 5 | 404 | 0.0124 | 7 | c.-13 others(26): Show |
P2RY14 | ENSG00000174944.9 | transcript | ENST00000309170.8 | protein_coding | 1/2 | chr3 | TogoVar | ||||||
P2RY8_chrX_1457581_1542185 | 1460588 | T | TATCTATC | downstream_gene_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 114 | 0.0088 | 7 | c.*48 others(18): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1992 | chrX | TogoVar | ||||||
P2RY8_chrX_1457581_1542185 | 1461851 | C | CTAATATA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(73): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(17): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(73): Show | 76 | 114 | 0.6667 | 7 | c.*36 others(18): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 729 | chrX | TogoVar | ||||||
P2RY8_chrX_1457581_1542185 | 1461870 | A | ATCATCTG | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00621.hp1 HG01975.hp2 others(19): Show |
a0001a0004 | a0001c0001a0004c0012 | a0001c0001t0001a0001c0001t0007a0001c0001t0014others(2): Show | a0001c0001t0001g0023a0001c0001t0001g0026a0001c0001t0001g0033others(19): Show | 22 | 114 | 0.1930 | 7 | c.*36 others(18): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 710 | chrX | TogoVar | ||||||
P2RY8_chrX_1457581_1542185 | 1461881 | G | GTCTATCT | downstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0070 | 1 | 114 | 0.0088 | 7 | c.*35 others(18): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 699 | chrX | TogoVar | ||||||
P2RY8_chrX_1457581_1542185 | 1461905 | A | ATCTATCT | downstream_gene_variant | MODIFIER | HG03195.hp1 NA19240.hp2 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0041a0001c0003t0003g0068 | 2 | 114 | 0.0175 | 7 | c.*35 others(18): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 675 | chrX | TogoVar | ||||||
P2RY8_chrX_1457581_1542185 | 1468898 | T | TCCCTCTC | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(43): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0016a0001c0001t0001g0033a0001c0001t0001g0040others(43): Show | 46 | 114 | 0.4035 | 7 | c.-24 others(24): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | ||||||
P2RY8_chrX_1457581_1542185 | 1468981 | C | CCCCTTCT | intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 114 | 0.0088 | 7 | c.-24 others(24): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | ||||||
P2RY8_chrX_1457581_1542185 | 1484724 | T | TAAAAAAA | intron_variant | MODIFIER | HG00544.hp1 HG01255.hp1 HG04199.hp1 |
a0001a0010 | a0001c0001a0010c0007 | a0001c0001t0001a0010c0007t0015 | a0001c0001t0001g0081a0001c0001t0001g0086a0010c0007t0015g0015 | 3 | 114 | 0.0263 | 7 | c.-24 others(26): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | ||||||
P2RY8_chrX_1457581_1542185 | 1493434 | G | GGGAAGGA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(7): Show |
a0001a0002a0008 | a0001c0001a0002c0005a0008c0010 | a0001c0001t0002a0001c0001t0008a0001c0001t0016others(5): Show | a0001c0001t0002g0014a0001c0001t0002g0050a0001c0001t0002g0060others(7): Show | 10 | 114 | 0.0877 | 7 | c.-24 others(26): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | ||||||
P2RY8_chrX_1457581_1542185 | 1493440 | G | GAGGAGGA | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp1 others(35): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(18): Show | a0001c0001t0001g0026a0001c0001t0001g0033a0001c0001t0001g0039others(35): Show | 38 | 114 | 0.3333 | 7 | c.-24 others(26): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | ||||||
P2RY8_chrX_1457581_1542185 | 1505137 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp2 HG00639.hp1 others(33): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0022a0001c0001t0001g0037a0001c0001t0001g0039others(33): Show | 36 | 114 | 0.3158 | 7 | c.-25 others(26): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | ||||||
P2RY8_chrX_1457581_1542185 | 1508704 | T | TCCATCCA | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0012 | 1 | 114 | 0.0088 | 7 | c.-25 others(26): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | ||||||
P2RY8_chrX_1457581_1542185 | 1509809 | C | CATCTATG | intron_variant | MODIFIER | HG02622.hp1 HG02723.hp1 NA20129.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0033a0002c0002t0006 | a0001c0001t0003g0069a0001c0001t0033g0113a0002c0002t0006g0067 | 3 | 114 | 0.0263 | 7 | c.-25 others(26): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | ||||||
P2RY8_chrX_1457581_1542185 | 1521944 | C | CTTTTTTT | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0004 | a0001c0004t0010 | a0001c0004t0010g0111 | 1 | 114 | 0.0088 | 7 | c.-25 others(26): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | ||||||
P2RY8_chrX_1457581_1542185 | 1530513 | C | CTAATTTA | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG02273.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0030a0002c0002t0004 | a0001c0001t0002g0014a0001c0001t0030g0013a0002c0002t0004g0024 | 3 | 114 | 0.0263 | 7 | c.-25 others(24): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | ||||||
P2RY8_chrX_1457581_1542185 | 1535184 | C | CTTTTTTT | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 114 | 0.0088 | 7 | c.-25 others(24): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | ||||||
P3H2_chr3_189951728_190125897 | 189962161 | C | CTTTTTTT | intron_variant | MODIFIER | HG00558.hp2 HG00639.hp2 HG01123.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0011a0001c0002t0006others(2): Show | a0001c0001t0001g0013a0001c0001t0011g0080a0001c0002t0006g0131others(5): Show | 8 | 304 | 0.0263 | 7 | c.203 others(26): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 14/14 | chr3 | TogoVar | ||||||
P3H2_chr3_189951728_190125897 | 190023019 | T | TGTTTCAC | intron_variant | MODIFIER | HG01361.hp2 HG01891.hp2 HG02257.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0001g0097a0001c0001t0003g0099a0001c0001t0005g0024others(10): Show | 13 | 304 | 0.0428 | 7 | c.481 others(26): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 1/14 | chr3 | TogoVar | ||||||
P3H3_chr12_6823407_6844847 | 6844091 | G | GTCTTTTT | downstream_gene_variant | MODIFIER | HG00621.hp1 HG02027.hp1 NA18947.hp1 others(19): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0009a0003c0003others(4): Show | a0001c0001t0001a0002c0009t0001a0003c0003t0002others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0002c0009t0001g0041others(8): Show | 22 | 452 | 0.0487 | 7 | c.*46 others(18): Show |
P3H3 | ENSG00000110811.20 | transcript | ENST00000290510.10 | protein_coding | 4245 | chr12 | TogoVar | ||||||
P4HA1_chr10_73002217_73101866 | 73019730 | G | GAAAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(121): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0001g0080a0001c0001t0001g0081a0001c0001t0001g0082others(121): Show | 124 | 234 | 0.5299 | 7 | c.124 others(26): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 10/14 | chr10 | TogoVar | ||||||
P4HA1_chr10_73002217_73101866 | 73037572 | T | TATATATA | intron_variant | MODIFIER | HG03471.hp1 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0140a0001c0001t0003g0229 | 2 | 234 | 0.0086 | 7 | c.114 others(26): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 9/14 | chr10 | TogoVar | ||||||
P4HA1_chr10_73002217_73101866 | 73093873 | A | ATATATAT | intron_variant | MODIFIER | NA18953.hp1 NA18993.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098a0001c0001t0001g0110 | 2 | 234 | 0.0086 | 7 | c.-33 others(24): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 1/14 | chr10 | TogoVar | ||||||
P4HA1_chr10_73002217_73101866 | 73101702 | A | ATATATAT | upstream_gene_variant | MODIFIER | HG02897.hp2 NA18971.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0214a0001c0001t0003g0117 | 2 | 234 | 0.0086 | 7 | c.-49 others(18): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 4837 | chr10 | TogoVar | ||||||
PABIR3_chrX_134802237_134859832 | 134830325 | C | CCTTTTTT | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 | 1 | 199 | 0.0050 | 7 | c.246 others(24): Show |
PABIR3 | ENSG00000156500.16 | transcript | ENST00000645433.2 | protein_coding | 4/10 | chrX | TogoVar | ||||||
PABIR3_chrX_134802237_134859832 | 134838653 | T | TCCCCCTC | intron_variant | MODIFIER | HG02257.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0118a0001c0001t0002g0140 | 2 | 199 | 0.0101 | 7 | c.247 others(24): Show |
PABIR3 | ENSG00000156500.16 | transcript | ENST00000645433.2 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PABIR3_chrX_134802237_134859832 | 134849869 | C | CTTTTTTT | intron_variant | MODIFIER | HG02280.hp1 HG02615.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0050a0001c0001t0002g0051a0001c0001t0002g0193 | 3 | 199 | 0.0151 | 7 | c.589 others(22): Show |
PABIR3 | ENSG00000156500.16 | transcript | ENST00000645433.2 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PABPC1L_chr20_44905060_44944316 | 44929794 | C | CAAAAAAA | intron_variant | MODIFIER | HG02572.hp1 HG02622.hp1 HG02630.hp1 others(4): Show |
a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0009a0003c0006t0002g0044a0003c0006t0002g0045others(2): Show | 7 | 396 | 0.0177 | 7 | c.973 others(22): Show |
PABPC1L | ENSG00000101104.13 | transcript | ENST00000217073.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PABPC1L_chr20_44905060_44944316 | 44931056 | T | TCCCTCCC | intron_variant | MODIFIER | HG00673.hp1 HG02015.hp1 HG02559.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0002a0001c0003t0001a0001c0004t0001others(1): Show | a0001c0001t0002g0250a0001c0003t0001g0099a0001c0004t0001g0013others(5): Show | 10 | 396 | 0.0253 | 7 | c.123 others(24): Show |
PABPC1L | ENSG00000101104.13 | transcript | ENST00000217073.7 | protein_coding | 8/14 | chr20 | TogoVar | ||||||
PABPC1L_chr20_44905060_44944316 | 44931061 | T | TCCCTCCC | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00423.hp1 others(96): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0008others(3): Show | a0001c0001t0002a0001c0003t0002a0001c0008t0002others(7): Show | a0001c0001t0002g0214a0001c0001t0002g0216a0001c0001t0002g0243others(72): Show | 99 | 396 | 0.2500 | 7 | c.123 others(24): Show |
PABPC1L | ENSG00000101104.13 | transcript | ENST00000217073.7 | protein_coding | 8/14 | chr20 | TogoVar | ||||||
PABPC1_chr8_100697916_100727088 | 100721764 | T | TGGCTGCC | 5_prime_UTR_variant | MODIFIER | HG02895.hp2 HG02922.hp1 HG03139.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0169a0001c0001t0003g0170a0001c0001t0003g0171others(1): Show | 4 | 416 | 0.0096 | 7 | c.-18 others(16): Show |
PABPC1 | ENSG00000070756.17 | transcript | ENST00000318607.10 | protein_coding | 1/15 | 182 | chr8 | TogoVar | |||||
PABPC4_chr1_39555816_39581790 | 39558101 | A | ATTTTTTT | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG01069.hp1 others(21): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0013others(2): Show | 24 | 374 | 0.0642 | 7 | c.*30 others(18): Show |
PABPC4 | ENSG00000090621.15 | transcript | ENST00000372858.8 | protein_coding | 2714 | chr1 | TogoVar | ||||||
PABPN1_chr14_23316457_23331163 | 23328990 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG02004.hp2 HG02258.hp1 HG02602.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0001a0001c0001t0004g0004a0001c0001t0004g0005 | 6 | 428 | 0.0140 | 7 | c.*37 others(18): Show |
PABPN1 | ENSG00000100836.11 | transcript | ENST00000216727.9 | protein_coding | 2828 | chr14 | TogoVar | ||||||
PACC1_chr1_212358928_212419886 | 212373361 | T | TAGATTAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(291): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0088others(269): Show | 294 | 374 | 0.7861 | 7 | c.891 others(24): Show |
PACC1 | ENSG00000065600.13 | transcript | ENST00000261455.9 | protein_coding | 7/7 | chr1 | TogoVar |