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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PAN3_chr13_28133545_28300335 | 28206315 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01069.hp1 HG01071.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0001g0130a0001c0001t0001g0131a0001c0001t0004g0052others(11): Show | 14 | 252 | 0.0556 | -8 | c.852 others(25): Show |
PAN3 | ENSG00000152520.14 | transcript | ENST00000380958.8 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PAN3_chr13_28133545_28300335 | 28209751 | TCCTGCCT others(1): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02258.hp1 HG02572.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0023a0001c0001t0024 | a0001c0001t0017g0204a0001c0001t0017g0205a0001c0001t0023g0171others(1): Show | 4 | 252 | 0.0159 | -8 | c.853 others(27): Show |
PAN3 | ENSG00000152520.14 | transcript | ENST00000380958.8 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PAN3_chr13_28133545_28300335 | 28223871 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00597.hp2 HG00639.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007a0001c0001t0030 | a0001c0001t0005g0117a0001c0001t0005g0173a0001c0001t0005g0175others(15): Show | 18 | 252 | 0.0714 | -8 | c.100 others(27): Show |
PAN3 | ENSG00000152520.14 | transcript | ENST00000380958.8 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PAN3_chr13_28133545_28300335 | 28296766 | CAAAAAAA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00438.hp2 HG01167.hp2 HG01361.hp1 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0069a0001c0001t0002g0002a0001c0001t0002g0143others(36): Show | 39 | 252 | 0.1548 | -8 | c.*42 others(19): Show |
PAN3 | ENSG00000152520.14 | transcript | ENST00000380958.8 | protein_coding | 1432 | chr13 | TogoVar | ||||||
PANK2_chr20_3884387_3934887 | 3893924 | GTTTTTTG others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(105): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(46): Show | a0001c0001t0001g0292a0001c0001t0003g0006a0001c0001t0003g0205others(103): Show | 108 | 422 | 0.2559 | -8 | c.298 others(25): Show |
PANK2 | ENSG00000125779.24 | transcript | ENST00000610179.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PANK2_chr20_3884387_3934887 | 3902972 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00639.hp1 HG01069.hp2 others(25): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0012others(16): Show | a0001c0001t0001g0123a0001c0001t0001g0145a0001c0001t0001g0155others(24): Show | 28 | 422 | 0.0664 | -8 | c.299 others(25): Show |
PANK2 | ENSG00000125779.24 | transcript | ENST00000610179.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PANK2_chr20_3884387_3934887 | 3905163 | GACTGCAC others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(270): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(119): Show | a0001c0001t0003g0006a0001c0001t0003g0205a0001c0001t0003g0207others(261): Show | 273 | 422 | 0.6469 | -8 | c.299 others(25): Show |
PANK2 | ENSG00000125779.24 | transcript | ENST00000610179.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PANK3_chr5_168543495_168584368 | 168573416 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00673.hp1 HG01070.hp1 HG02015.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(1): Show | a0001c0001t0001g0244a0001c0001t0004g0213a0001c0001t0007g0099others(13): Show | 17 | 416 | 0.0409 | -8 | c.29- others(23): Show |
PANK3 | ENSG00000120137.7 | transcript | ENST00000239231.7 | protein_coding | 1/6 | chr5 | TogoVar | ||||||
PANX3_chr11_124606428_124625356 | 124607336 | TAGAAAGA others(1): Show |
T | upstream_gene_variant | MODIFIER | HG01081.hp1 HG01081.hp2 HG01106.hp2 others(17): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0006t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(10): Show | 20 | 420 | 0.0476 | -8 | c.-42 others(19): Show |
PANX3 | ENSG00000154143.3 | transcript | ENST00000284288.3 | protein_coding | 4091 | chr11 | TogoVar | ||||||
PAOX_chr10_133374262_133396694 | 133383627 | CAAAAAAC others(1): Show |
C | intron_variant | MODIFIER | HG02615.hp2 HG03209.hp1 HG03540.hp1 |
a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0025 | 3 | 346 | 0.0087 | -8 | c.869 others(23): Show |
PAOX | ENSG00000148832.16 | transcript | ENST00000278060.10 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PAOX_chr10_133374262_133396694 | 133390410 | CCACACAC others(1): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG00733.hp1 HG00735.hp1 others(48): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0009t0001others(1): Show | a0001c0001t0001g0011a0001c0001t0001g0018a0001c0001t0001g0019others(24): Show | 51 | 346 | 0.1474 | -8 | c.139 others(25): Show |
PAOX | ENSG00000148832.16 | transcript | ENST00000278060.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PAPLN_chr14_73232506_73279623 | 73246397 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(184): Show |
a0001a0002a0003others(15): Show | a0001c0003a0001c0004a0001c0006others(25): Show | a0001c0003t0001a0001c0003t0005a0001c0003t0006others(39): Show | a0001c0003t0001g0245a0001c0003t0001g0246a0001c0003t0001g0247others(175): Show | 187 | 418 | 0.4474 | -8 | c.334 others(23): Show |
PAPLN | ENSG00000100767.17 | transcript | ENST00000644200.2 | protein_coding | 5/26 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PAPLN_chr14_73232506_73279623 | 73247796 | CCGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG00639.hp1 others(28): Show |
a0001a0004a0005others(2): Show | a0001c0003a0001c0006a0001c0038others(4): Show | a0001c0003t0001a0001c0003t0003a0001c0003t0006others(10): Show | a0001c0003t0001g0251a0001c0003t0001g0368a0001c0003t0003g0061others(27): Show | 31 | 418 | 0.0742 | -8 | c.334 others(25): Show |
PAPLN | ENSG00000100767.17 | transcript | ENST00000644200.2 | protein_coding | 5/26 | chr14 | TogoVar | ||||||
PAPLN_chr14_73232506_73279623 | 73247889 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp2 HG01106.hp1 others(7): Show |
a0001a0003a0010others(2): Show | a0001c0003a0001c0004a0001c0029others(4): Show | a0001c0003t0006a0001c0004t0001a0001c0029t0001others(4): Show | a0001c0003t0006g0290a0001c0004t0001g0277a0001c0004t0001g0278others(6): Show | 10 | 418 | 0.0239 | -8 | c.334 others(25): Show |
PAPLN | ENSG00000100767.17 | transcript | ENST00000644200.2 | protein_coding | 5/26 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PAPLN_chr14_73232506_73279623 | 73247984 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 NA18945.hp2 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0004a0002c0001others(2): Show | a0001c0003t0001a0001c0004t0001a0002c0001t0001others(2): Show | a0001c0003t0001g0249a0001c0004t0001g0200a0001c0004t0001g0206others(5): Show | 8 | 418 | 0.0191 | -8 | c.334 others(25): Show |
PAPLN | ENSG00000100767.17 | transcript | ENST00000644200.2 | protein_coding | 5/26 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PAPLN_chr14_73232506_73279623 | 73257753 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(91): Show |
a0001a0003a0004others(10): Show | a0001c0003a0001c0004a0001c0006others(16): Show | a0001c0003t0001a0001c0003t0005a0001c0003t0006others(28): Show | a0001c0003t0001g0058a0001c0003t0001g0065a0001c0003t0001g0068others(88): Show | 94 | 418 | 0.2249 | -8 | c.162 others(27): Show |
PAPLN | ENSG00000100767.17 | transcript | ENST00000644200.2 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PAPOLA_chr14_96497382_96572116 | 96507280 | GTTTTTTT others(1): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00597.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0048a0001c0001t0001g0050a0001c0001t0001g0063others(14): Show | 17 | 310 | 0.0548 | -8 | c.8+4 others(21): Show |
PAPOLA | ENSG00000090060.19 | transcript | ENST00000216277.13 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PAPOLA_chr14_96497382_96572116 | 96522112 | CTTTCTTT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00544.hp2 others(53): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(1): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0100others(49): Show | 56 | 310 | 0.1807 | -8 | c.249 others(25): Show |
PAPOLA | ENSG00000090060.19 | transcript | ENST00000216277.13 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PAPOLA_chr14_96497382_96572116 | 96559550 | CCTCTCTC others(1): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0242a0001c0001t0008g0018a0001c0001t0008g0287 | 4 | 310 | 0.0129 | -8 | c.200 others(27): Show |
PAPOLA | ENSG00000090060.19 | transcript | ENST00000216277.13 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PAPOLB_chr7_4852738_4867030 | 4855620 | TAAAAAAA others(1): Show |
T | downstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG02257.hp2 others(9): Show |
a0002a0005 | a0002c0005a0005c0007 | a0002c0005t0013a0005c0007t0006a0005c0007t0022 | a0002c0005t0013g0000a0005c0007t0006g0000a0005c0007t0022g0000 | 12 | 438 | 0.0274 | -8 | c.*42 others(19): Show |
PAPOLB | ENSG00000218823.2 | transcript | ENST00000404991.2 | protein_coding | 2117 | chr7 | TogoVar | ||||||
PAPPA2_chr1_176458175_176850601 | 176545415 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG01978.hp2 HG02258.hp2 HG02818.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0002g0010a0001c0001t0004g0029a0001c0001t0005g0030others(5): Show | 8 | 118 | 0.0678 | -8 | c.-91 others(27): Show |
PAPPA2 | ENSG00000116183.11 | transcript | ENST00000367662.5 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PAPPA2_chr1_176458175_176850601 | 176623568 | TTCCTTCC others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG02647.hp1 HG02886.hp1 others(7): Show |
a0001a0009a0010 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0013others(6): Show | a0001c0001t0002g0010a0001c0001t0002g0073a0001c0001t0007g0084others(7): Show | 10 | 118 | 0.0848 | -8 | c.199 others(29): Show |
PAPPA2 | ENSG00000116183.11 | transcript | ENST00000367662.5 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PAPPA2_chr1_176458175_176850601 | 176623576 | CTCCTTCC others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(10): Show |
a0001a0005 | a0001c0001a0001c0011a0005c0010 | a0001c0001t0001a0001c0001t0011a0001c0001t0044others(3): Show | a0001c0001t0001g0009a0001c0001t0001g0054a0001c0001t0001g0058others(10): Show | 13 | 118 | 0.1102 | -8 | c.199 others(29): Show |
PAPPA2 | ENSG00000116183.11 | transcript | ENST00000367662.5 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PAPPA2_chr1_176458175_176850601 | 176634795 | GAGAGAGA others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG01074.hp1 others(16): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0020a0001c0001t0002g0052a0001c0001t0004g0077others(16): Show | 19 | 118 | 0.1610 | -8 | c.199 others(29): Show |
PAPPA2 | ENSG00000116183.11 | transcript | ENST00000367662.5 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PAPPA2_chr1_176458175_176850601 | 176634958 | GATAGATA others(1): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0010a0001c0001t0010g0106 | 2 | 118 | 0.0170 | -8 | c.199 others(29): Show |
PAPPA2 | ENSG00000116183.11 | transcript | ENST00000367662.5 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PAPPA2_chr1_176458175_176850601 | 176634966 | AATAGATA others(1): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02257.hp1 HG02258.hp1 others(10): Show |
a0001a0002a0009 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0013others(7): Show | a0001c0001t0002g0073a0001c0001t0012g0074a0001c0001t0012g0105others(10): Show | 13 | 118 | 0.1102 | -8 | c.199 others(29): Show |
PAPPA2 | ENSG00000116183.11 | transcript | ENST00000367662.5 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PAPPA2_chr1_176458175_176850601 | 176666561 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG02257.hp1 HG02258.hp2 HG03579.hp1 others(3): Show |
a0001a0002a0009 | a0001c0001a0002c0004a0009c0016 | a0001c0001t0005a0001c0001t0046a0002c0004t0005others(2): Show | a0001c0001t0005g0047a0001c0001t0046g0101a0002c0004t0005g0014others(3): Show | 6 | 118 | 0.0509 | -8 | c.199 others(27): Show |
PAPPA2 | ENSG00000116183.11 | transcript | ENST00000367662.5 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PAPPA2_chr1_176458175_176850601 | 176683008 | CTATTTAT others(1): Show |
C | intron_variant | MODIFIER | HG02083.hp2 HG02257.hp1 HG02895.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0002t0008a0001c0003t0003others(3): Show | a0001c0001t0002g0010a0001c0002t0008g0013a0001c0003t0003g0041others(4): Show | 7 | 118 | 0.0593 | -8 | c.213 others(27): Show |
PAPPA2 | ENSG00000116183.11 | transcript | ENST00000367662.5 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PAPPA2_chr1_176458175_176850601 | 176702776 | TGAGAGAG others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00741.hp1 others(8): Show |
a0001a0004 | a0001c0002a0001c0003a0004c0008 | a0001c0002t0002a0001c0003t0003a0001c0003t0029others(3): Show | a0001c0002t0002g0040a0001c0003t0003g0041a0001c0003t0003g0050others(8): Show | 11 | 118 | 0.0932 | -8 | c.336 others(23): Show |
PAPPA2 | ENSG00000116183.11 | transcript | ENST00000367662.5 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PAPPA2_chr1_176458175_176850601 | 176708530 | TAGAGAGA others(1): Show |
T | intron_variant | MODIFIER | HG02615.hp1 HG02630.hp1 HG02717.hp1 others(1): Show |
a0003 | a0003c0005 | a0003c0005t0009a0003c0005t0022 | a0003c0005t0009g0011a0003c0005t0009g0028a0003c0005t0009g0094others(1): Show | 4 | 118 | 0.0339 | -8 | c.345 others(27): Show |
PAPPA2 | ENSG00000116183.11 | transcript | ENST00000367662.5 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PAPPA2_chr1_176458175_176850601 | 176735677 | AATCTATC others(1): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG01074.hp2 HG01993.hp1 others(25): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(19): Show | a0001c0001t0001g0097a0001c0001t0002g0052a0001c0001t0004g0077others(25): Show | 28 | 118 | 0.2373 | -8 | c.379 others(27): Show |
PAPPA2 | ENSG00000116183.11 | transcript | ENST00000367662.5 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PAPPA2_chr1_176458175_176850601 | 176805061 | CCCTTCCT others(1): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG03041.hp1 NA19240.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0023a0002c0004t0014 | a0001c0001t0023g0115a0002c0004t0014g0031a0002c0004t0014g0042 | 3 | 118 | 0.0254 | -8 | c.520 others(27): Show |
PAPPA2 | ENSG00000116183.11 | transcript | ENST00000367662.5 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PAPPA2_chr1_176458175_176850601 | 176809951 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG01175.hp2 others(14): Show |
a0001a0002a0005 | a0001c0001a0001c0006a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0044others(4): Show | a0001c0001t0001g0009a0001c0001t0001g0043a0001c0001t0001g0049others(14): Show | 17 | 118 | 0.1441 | -8 | c.520 others(27): Show |
PAPPA2 | ENSG00000116183.11 | transcript | ENST00000367662.5 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PAPPA2_chr1_176458175_176850601 | 176816152 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(8): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0005a0001c0001t0049a0001c0002t0016others(5): Show | a0001c0001t0005g0008a0001c0001t0049g0026a0001c0002t0016g0068others(8): Show | 11 | 118 | 0.0932 | -8 | c.520 others(29): Show |
PAPPA2 | ENSG00000116183.11 | transcript | ENST00000367662.5 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PAPPA_chr9_116148791_116407321 | 116151066 | ATGTGTGT others(1): Show |
A | upstream_gene_variant | MODIFIER | HG01106.hp2 HG01168.hp2 HG01255.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0038a0001c0005t0059others(3): Show | a0001c0001t0001g0184a0001c0001t0001g0198a0001c0001t0038g0189others(5): Show | 8 | 234 | 0.0342 | -8 | c.-31 others(19): Show |
PAPPA | ENSG00000182752.10 | transcript | ENST00000328252.4 | protein_coding | 2724 | chr9 | TogoVar | ||||||
PAPPA_chr9_116148791_116407321 | 116151076 | GTATATAT others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00544.hp2 others(55): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0005others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0054others(55): Show | 58 | 234 | 0.2479 | -8 | c.-30 others(19): Show |
PAPPA | ENSG00000182752.10 | transcript | ENST00000328252.4 | protein_coding | 2714 | chr9 | TogoVar | ||||||
PAPPA_chr9_116148791_116407321 | 116231660 | CGGATGGA others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG01192.hp2 others(31): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0005others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0046a0001c0001t0002g0044a0001c0001t0002g0056others(31): Show | 34 | 234 | 0.1453 | -8 | c.223 others(27): Show |
PAPPA | ENSG00000182752.10 | transcript | ENST00000328252.4 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PAPPA_chr9_116148791_116407321 | 116289121 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG01256.hp1 others(4): Show |
a0002 | a0002c0003a0002c0004a0002c0009 | a0002c0003t0001a0002c0003t0002a0002c0003t0050others(2): Show | a0002c0003t0001g0077a0002c0003t0002g0072a0002c0003t0002g0079others(4): Show | 7 | 234 | 0.0299 | -8 | c.295 others(29): Show |
PAPPA | ENSG00000182752.10 | transcript | ENST00000328252.4 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PAPPA_chr9_116148791_116407321 | 116304044 | CTGAATGA others(1): Show |
C | intron_variant | MODIFIER | HG02486.hp1 HG02615.hp1 HG02809.hp2 others(2): Show |
a0002a0005a0009 | a0002c0003a0002c0006a0002c0016others(2): Show | a0002c0003t0015a0002c0006t0028a0002c0016t0024others(2): Show | a0002c0003t0015g0169a0002c0006t0028g0168a0002c0016t0024g0007others(2): Show | 5 | 234 | 0.0214 | -8 | c.314 others(27): Show |
PAPPA | ENSG00000182752.10 | transcript | ENST00000328252.4 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PAPPA_chr9_116148791_116407321 | 116379539 | TCATCCAT others(1): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG02056.hp1 HG02135.hp1 others(14): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0005a0001c0036others(5): Show | a0001c0001t0005a0001c0001t0011a0001c0001t0060others(9): Show | a0001c0001t0005g0123a0001c0001t0005g0145a0001c0001t0005g0151others(14): Show | 17 | 234 | 0.0727 | -8 | c.467 others(27): Show |
PAPPA | ENSG00000182752.10 | transcript | ENST00000328252.4 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PAPPA_chr9_116148791_116407321 | 116385234 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(96): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0005others(27): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(58): Show | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0036others(96): Show | 99 | 234 | 0.4231 | -8 | c.477 others(27): Show |
PAPPA | ENSG00000182752.10 | transcript | ENST00000328252.4 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PAPSS1_chr4_107608666_107725234 | 107646330 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG01975.hp2 HG02109.hp2 HG02486.hp2 others(5): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0141a0001c0001t0001g0142a0001c0001t0001g0143others(5): Show | 8 | 276 | 0.0290 | -8 | c.123 others(27): Show |
PAPSS1 | ENSG00000138801.9 | transcript | ENST00000265174.5 | protein_coding | 9/11 | chr4 | TogoVar | ||||||
PAPSS2_chr10_87654878_87752705 | 87676872 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp2 HG02451.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0019a0001c0001t0020others(6): Show | a0001c0001t0007g0319a0001c0001t0019g0163a0001c0001t0019g0165others(9): Show | 12 | 372 | 0.0323 | -8 | c.27+ others(25): Show |
PAPSS2 | ENSG00000198682.13 | transcript | ENST00000456849.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PAPSS2_chr10_87654878_87752705 | 87701300 | TTTCCTTC others(1): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG01074.hp2 HG01255.hp1 others(26): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0050a0001c0001t0001g0135a0001c0001t0001g0143others(26): Show | 29 | 372 | 0.0780 | -8 | c.28- others(23): Show |
PAPSS2 | ENSG00000198682.13 | transcript | ENST00000456849.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PAPSS2_chr10_87654878_87752705 | 87701323 | CCTTCCTT others(1): Show |
C | intron_variant | MODIFIER | HG02647.hp2 NA18906.hp2 NA18964.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0001c0001t0007a0001c0001t0012others(2): Show | a0001c0001t0002g0077a0001c0001t0002g0175a0001c0001t0002g0176others(4): Show | 7 | 372 | 0.0188 | -8 | c.28- others(23): Show |
PAPSS2 | ENSG00000198682.13 | transcript | ENST00000456849.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PAPSS2_chr10_87654878_87752705 | 87701327 | CCTTTCTT others(1): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG01168.hp1 HG01168.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0011 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0002g0308a0001c0001t0003g0182a0001c0001t0003g0195others(18): Show | 21 | 372 | 0.0565 | -8 | c.28- others(23): Show |
PAPSS2 | ENSG00000198682.13 | transcript | ENST00000456849.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PAPSS2_chr10_87654878_87752705 | 87703276 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG01109.hp2 HG01243.hp1 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(19): Show | a0001c0001t0002g0252a0001c0001t0003g0022a0001c0001t0003g0188others(43): Show | 46 | 372 | 0.1237 | -8 | c.28- others(23): Show |
PAPSS2 | ENSG00000198682.13 | transcript | ENST00000456849.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PAPSS2_chr10_87654878_87752705 | 87734663 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG01516.hp1 HG01891.hp2 HG02109.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(3): Show | a0001c0001t0002g0240a0001c0001t0004g0269a0001c0001t0009g0220others(5): Show | 8 | 372 | 0.0215 | -8 | c.108 others(27): Show |
PAPSS2 | ENSG00000198682.13 | transcript | ENST00000456849.2 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PAQR3_chr4_78906878_78944438 | 78930880 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp1 others(72): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(9): Show | a0001c0001t0003g0003a0001c0001t0003g0034a0001c0001t0003g0035others(28): Show | 75 | 334 | 0.2246 | -8 | c.349 others(23): Show |
PAQR3 | ENSG00000163291.14 | transcript | ENST00000512733.5 | protein_coding | 2/5 | chr4 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69300590 | CTTCTTTC others(1): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01257.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0001g0219a0001c0001t0001g0228a0001c0001t0001g0230others(10): Show | 13 | 284 | 0.0458 | -8 | c.-27 others(27): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |