| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PAK5_chr20_9532370_9844076 | 9807762 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01069.hp2 HG01099.hp1 others(18): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0004a0001c0005others(6): Show | a0001c0002t0002a0001c0002t0007a0001c0002t0017others(11): Show | a0001c0002t0002g0045a0001c0002t0002g0096a0001c0002t0007g0107others(18): Show | 21 | 208 | 0.1010 | 9 | c.-16 others(30): Show |
PAK5 | ENSG00000101349.17 | transcript | ENST00000353224.10 | protein_coding | 1/9 | chr20 | TogoVar | ||||||
| PAK6_chr15_40234063_40282487 | 40275280 | G | GTTTTCTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00423.hp1 others(85): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0014others(7): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(38): Show | a0001c0001t0002g0127a0001c0001t0002g0180a0001c0001t0002g0184others(83): Show | 88 | 426 | 0.2066 | 9 | c.187 others(26): Show |
PAK6 | ENSG00000137843.12 | transcript | ENST00000560346.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| PAK6_chr15_40234063_40282487 | 40275282 | T | TTTCTTTT others(2): Show |
intron_variant | MODIFIER | HG01981.hp1 HG02257.hp1 HG03579.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0018others(2): Show | a0001c0001t0002g0083a0001c0001t0002g0092a0001c0001t0005g0320others(3): Show | 6 | 426 | 0.0141 | 9 | c.187 others(26): Show |
PAK6 | ENSG00000137843.12 | transcript | ENST00000560346.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| PAK6_chr15_40234063_40282487 | 40281980 | T | TGGCCGCG others(2): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 HG02486.hp1 HG02647.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0011others(1): Show | a0001c0001t0023a0001c0002t0078a0001c0011t0038others(2): Show | a0001c0001t0023g0383a0001c0002t0078g0399a0001c0011t0038g0096others(2): Show | 5 | 426 | 0.0117 | 9 | c.*58 others(20): Show |
PAK6 | ENSG00000137843.12 | transcript | ENST00000560346.6 | protein_coding | 4494 | chr15 | TogoVar | ||||||
| PALD1_chr10_70473767_70573450 | 70557930 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG01981.hp2 others(13): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0006a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0025others(7): Show | a0001c0001t0001g0073a0001c0001t0001g0108a0001c0001t0001g0136others(13): Show | 16 | 308 | 0.0520 | 9 | c.226 others(28): Show |
PALD1 | ENSG00000107719.10 | transcript | ENST00000263563.7 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PALLD_chr4_168492052_168933441 | 168520347 | A | AGAGAGAG others(2): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00639.hp2 HG00642.hp2 others(25): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(12): Show | a0001c0001t0001g0013a0001c0001t0001g0026a0001c0001t0001g0055others(25): Show | 28 | 156 | 0.1795 | 9 | c.908 others(26): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 2/21 | chr4 | TogoVar | ||||||
| PALLD_chr4_168492052_168933441 | 168530728 | A | ACATCACA others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00597.hp1 HG00642.hp1 others(60): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(36): Show | a0001c0001t0001g0003a0001c0001t0001g0068a0001c0001t0001g0078others(60): Show | 63 | 156 | 0.4039 | 9 | c.908 others(28): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PALLD_chr4_168492052_168933441 | 168746380 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02559.hp2 HG03130.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0002c0012others(1): Show | a0001c0001t0002a0001c0001t0020a0002c0003t0005others(3): Show | a0001c0001t0002g0136a0001c0001t0020g0098a0002c0003t0005g0109others(3): Show | 6 | 156 | 0.0385 | 9 | c.196 others(30): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PALLD_chr4_168492052_168933441 | 168759179 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00639.hp2 HG01346.hp2 others(5): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0003a0002c0012others(3): Show | a0001c0001t0004a0001c0001t0021a0002c0003t0005others(4): Show | a0001c0001t0004g0002a0001c0001t0004g0081a0001c0001t0021g0149others(5): Show | 8 | 156 | 0.0513 | 9 | c.196 others(30): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PALLD_chr4_168492052_168933441 | 168761645 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01167.hp2 HG01261.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0005a0001c0002t0010others(1): Show | a0001c0001t0001g0013a0001c0001t0005g0154a0001c0002t0010g0144others(2): Show | 5 | 156 | 0.0321 | 9 | c.196 others(30): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PALLD_chr4_168492052_168933441 | 168774727 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00639.hp2 others(24): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0063a0001c0001t0001g0068a0001c0001t0002g0104others(24): Show | 27 | 156 | 0.1731 | 9 | c.196 others(30): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PALM2AKAP2_chr9_109775198_110177512 | 109813413 | T | TCCAGAGG others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00621.hp1 HG00738.hp1 others(28): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(11): Show | a0001c0001t0001g0005a0001c0001t0001g0061a0001c0001t0001g0074others(28): Show | 31 | 222 | 0.1396 | 9 | c.45+ others(26): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 1/10 | chr9 | TogoVar | ||||||
| PALM2AKAP2_chr9_109775198_110177512 | 109865096 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01433.hp2 HG01516.hp1 others(8): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(6): Show | a0001c0001t0001g0016a0001c0001t0005g0108a0001c0001t0010g0015others(8): Show | 11 | 222 | 0.0496 | 9 | c.46- others(24): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| PALM2AKAP2_chr9_109775198_110177512 | 110011012 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00741.hp2 HG02080.hp2 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0010a0002c0002t0003others(2): Show | a0001c0001t0001g0077a0001c0001t0010g0018a0002c0002t0003g0206others(3): Show | 6 | 222 | 0.0270 | 9 | c.497 others(26): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 6/10 | chr9 | TogoVar | ||||||
| PALM2AKAP2_chr9_109775198_110177512 | 110038935 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01081.hp2 HG01361.hp1 others(31): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(15): Show | a0001c0001t0001g0075a0001c0001t0001g0101a0001c0001t0001g0141others(31): Show | 34 | 222 | 0.1532 | 9 | c.582 others(28): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| PALM2AKAP2_chr9_109775198_110177512 | 110135164 | A | AAAAATAT others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02280.hp1 HG02622.hp1 others(5): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0008a0001c0007t0001a0001c0007t0032 | a0001c0001t0008g0215a0001c0007t0001g0030a0001c0007t0001g0038others(5): Show | 8 | 222 | 0.0360 | 9 | c.583 others(24): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| PALM3_chr19_14048367_14067076 | 14051432 | C | CCGCTGGG others(2): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 HG02258.hp2 HG02280.hp1 others(10): Show |
a0001a0003a0006 | a0001c0001a0003c0002a0006c0008 | a0001c0001t0002a0003c0002t0002a0006c0008t0002 | a0001c0001t0002g0017a0001c0001t0002g0031a0003c0002t0002g0016others(1): Show | 13 | 438 | 0.0297 | 9 | c.*21 others(20): Show |
PALM3 | ENSG00000187867.10 | transcript | ENST00000669674.2 | protein_coding | 1934 | chr19 | TogoVar | ||||||
| PALS1_chr14_67236435_67341061 | 67284429 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(99): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(5): Show | a0001c0001t0001g0050a0001c0001t0005g0279a0001c0002t0001g0002others(99): Show | 102 | 290 | 0.3517 | 9 | c.367 others(26): Show |
PALS1 | ENSG00000072415.10 | transcript | ENST00000261681.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| PALS2_chr7_24568452_24699193 | 24573297 | T | TGGAGGAG others(2): Show |
upstream_gene_variant | MODIFIER | HG01257.hp2 HG02280.hp2 HG02572.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0013a0001c0001t0025a0001c0002t0012others(6): Show | a0001c0001t0013g0194a0001c0001t0013g0195a0001c0001t0025g0169others(10): Show | 13 | 378 | 0.0344 | 9 | c.-29 others(18): Show |
PALS2 | ENSG00000105926.16 | transcript | ENST00000222644.10 | protein_coding | 154 | chr7 | TogoVar | ||||||
| PAM_chr5_102750305_103034716 | 102751914 | G | GGCAGCCC others(2): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00621.hp2 others(99): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0003a0001c0001t0001g0023a0001c0001t0001g0026others(99): Show | 102 | 188 | 0.5426 | 9 | c.-38 others(20): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 3390 | chr5 | TogoVar | ||||||
| PAM_chr5_102750305_103034716 | 102801772 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02486.hp2 NA18945.hp1 NA18950.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0020others(6): Show | 9 | 188 | 0.0479 | 9 | c.-37 others(30): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PAN2_chr12_56311936_56339000 | 56312222 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG01106.hp2 NA18945.hp2 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0008a0001c0003t0003g0010a0001c0003t0003g0154others(3): Show | 7 | 336 | 0.0208 | 9 | c.*53 others(20): Show |
PAN2 | ENSG00000135473.16 | transcript | ENST00000440411.8 | protein_coding | 4713 | chr12 | TogoVar | ||||||
| PAN3_chr13_28133545_28300335 | 28138603 | T | TGGCGGCG others(2): Show |
5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00597.hp1 others(124): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(33): Show | a0001c0001t0002g0002a0001c0001t0002g0010a0001c0001t0002g0012others(124): Show | 127 | 252 | 0.5040 | 9 | c.-53 others(16): Show |
PAN3 | ENSG00000152520.14 | transcript | ENST00000380958.8 | protein_coding | 1/19 | 52 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||
| PAN3_chr13_28133545_28300335 | 28141003 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00639.hp1 HG01433.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007a0001c0001t0010others(2): Show | a0001c0001t0005g0179a0001c0001t0005g0180a0001c0001t0005g0181others(11): Show | 14 | 252 | 0.0556 | 9 | c.430 others(26): Show |
PAN3 | ENSG00000152520.14 | transcript | ENST00000380958.8 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PAN3_chr13_28133545_28300335 | 28295010 | G | GGATATAA others(2): Show |
3_prime_UTR_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG01069.hp2 others(69): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(11): Show | a0001c0001t0002g0002a0001c0001t0002g0010a0001c0001t0002g0012others(69): Show | 72 | 252 | 0.2857 | 9 | c.*24 others(20): Show |
PAN3 | ENSG00000152520.14 | transcript | ENST00000380958.8 | protein_coding | 19/19 | 2498 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||
| PANK1_chr10_89577988_89650242 | 89595720 | T | TGAGGTGC others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00544.hp2 others(106): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0010a0001c0001t0001g0014a0001c0001t0001g0018others(97): Show | 109 | 366 | 0.2978 | 9 | c.900 others(26): Show |
PANK1 | ENSG00000152782.19 | transcript | ENST00000307534.10 | protein_coding | 3/6 | chr10 | TogoVar | ||||||
| PANK1_chr10_89577988_89650242 | 89595833 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01515.hp2 HG01517.hp2 HG02622.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0005t0007others(1): Show | a0001c0001t0001g0018a0001c0002t0002g0274a0001c0002t0002g0275others(2): Show | 6 | 366 | 0.0164 | 9 | c.900 others(26): Show |
PANK1 | ENSG00000152782.19 | transcript | ENST00000307534.10 | protein_coding | 3/6 | chr10 | TogoVar | ||||||
| PANK1_chr10_89577988_89650242 | 89595833 | A | AAAAAAAT others(2): Show |
intron_variant | MODIFIER | HG01978.hp2 HG02698.hp1 NA18959.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0010a0001c0001t0001g0073a0001c0001t0001g0087others(2): Show | 6 | 366 | 0.0164 | 9 | c.900 others(26): Show |
PANK1 | ENSG00000152782.19 | transcript | ENST00000307534.10 | protein_coding | 3/6 | chr10 | TogoVar | ||||||
| PANK1_chr10_89577988_89650242 | 89631976 | G | GTGTGTGT others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp1 others(63): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0132a0001c0001t0001g0135a0001c0001t0001g0168others(57): Show | 66 | 366 | 0.1803 | 9 | c.292 others(28): Show |
PANK1 | ENSG00000152782.19 | transcript | ENST00000307534.10 | protein_coding | 1/6 | chr10 | TogoVar | ||||||
| PANK3_chr5_168543495_168584368 | 168565885 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01243.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0013a0001c0001t0013g0116a0001c0001t0013g0117others(2): Show | 7 | 416 | 0.0168 | 9 | c.635 others(24): Show |
PANK3 | ENSG00000120137.7 | transcript | ENST00000239231.7 | protein_coding | 3/6 | chr5 | TogoVar | ||||||
| PANK3_chr5_168543495_168584368 | 168569028 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG03704.hp2 NA18953.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0012a0001c0001t0045 | a0001c0001t0005g0052a0001c0001t0005g0053a0001c0001t0005g0072others(2): Show | 5 | 416 | 0.0120 | 9 | c.29- others(20): Show |
PANK3 | ENSG00000120137.7 | transcript | ENST00000239231.7 | protein_coding | 1/6 | chr5 | TogoVar | ||||||
| PANK3_chr5_168543495_168584368 | 168573416 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00609.hp1 HG00621.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(3): Show | a0001c0001t0002g0027a0001c0001t0002g0028a0001c0001t0002g0098others(19): Show | 28 | 416 | 0.0673 | 9 | c.29- others(24): Show |
PANK3 | ENSG00000120137.7 | transcript | ENST00000239231.7 | protein_coding | 1/6 | chr5 | TogoVar | ||||||
| PANK4_chr1_2503537_2531596 | 2510396 | T | TCCGATCG others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00423.hp2 others(167): Show |
a0001a0007a0008 | a0001c0001a0001c0005a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0023a0001c0001t0001g0060a0001c0001t0001g0061others(76): Show | 170 | 399 | 0.4261 | 9 | c.193 others(26): Show |
PANK4 | ENSG00000157881.16 | transcript | ENST00000378466.9 | protein_coding | 16/18 | chr1 | TogoVar | ||||||
| PAPLN_chr14_73232506_73279623 | 73257753 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01928.hp1 HG01981.hp2 others(17): Show |
a0001a0003a0006others(1): Show | a0001c0004a0003c0002a0003c0012others(3): Show | a0001c0004t0001a0003c0002t0001a0003c0002t0010others(4): Show | a0001c0004t0001g0056a0003c0002t0001g0006a0003c0002t0001g0049others(16): Show | 20 | 418 | 0.0479 | 9 | c.162 others(28): Show |
PAPLN | ENSG00000100767.17 | transcript | ENST00000644200.2 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| PAPLN_chr14_73232506_73279623 | 73258618 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG01243.hp2 others(20): Show |
a0001a0003a0005others(3): Show | a0001c0004a0001c0011a0003c0002others(4): Show | a0001c0004t0001a0001c0011t0002a0003c0002t0010others(5): Show | a0001c0004t0001g0081a0001c0004t0001g0089a0001c0011t0002g0234others(20): Show | 23 | 418 | 0.0550 | 9 | c.162 others(26): Show |
PAPLN | ENSG00000100767.17 | transcript | ENST00000644200.2 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| PAPPA2_chr1_176458175_176850601 | 176623807 | C | CTTTCTTT others(2): Show |
intron_variant | MODIFIER | HG01978.hp2 HG02717.hp2 HG03453.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0009a0001c0001t0001g0020a0001c0001t0002g0010others(2): Show | 5 | 118 | 0.0424 | 9 | c.199 others(30): Show |
PAPPA2 | ENSG00000116183.11 | transcript | ENST00000367662.5 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PAPPA2_chr1_176458175_176850601 | 176623821 | C | CTTTCTTT others(2): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01978.hp2 HG01993.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0020a0001c0001t0002g0010a0001c0001t0002g0052others(17): Show | 20 | 118 | 0.1695 | 9 | c.199 others(30): Show |
PAPPA2 | ENSG00000116183.11 | transcript | ENST00000367662.5 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PAPPA_chr9_116148791_116407321 | 116289205 | T | TAGCATAT others(2): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01106.hp2 HG01168.hp2 others(29): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0005others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0060others(23): Show | a0001c0001t0001g0184a0001c0001t0003g0075a0001c0001t0003g0215others(29): Show | 32 | 234 | 0.1368 | 9 | c.295 others(30): Show |
PAPPA | ENSG00000182752.10 | transcript | ENST00000328252.4 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| PAPPA_chr9_116148791_116407321 | 116289260 | T | TATATATG others(2): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01168.hp2 HG02071.hp2 others(3): Show |
a0002a0011 | a0002c0003a0002c0004a0002c0010others(1): Show | a0002c0003t0002a0002c0004t0016a0002c0004t0026others(2): Show | a0002c0003t0002g0066a0002c0003t0002g0067a0002c0004t0016g0081others(3): Show | 6 | 234 | 0.0256 | 9 | c.295 others(30): Show |
PAPPA | ENSG00000182752.10 | transcript | ENST00000328252.4 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| PAPPA_chr9_116148791_116407321 | 116384270 | T | TTAATAAT others(2): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00735.hp1 HG00741.hp2 others(46): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0036others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0036a0001c0001t0001g0132a0001c0001t0002g0013others(46): Show | 49 | 234 | 0.2094 | 9 | c.477 others(28): Show |
PAPPA | ENSG00000182752.10 | transcript | ENST00000328252.4 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| PAPSS1_chr4_107608666_107725234 | 107621608 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02258.hp1 HG02280.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0002others(4): Show | a0001c0001t0001g0150a0001c0002t0001g0166a0001c0002t0001g0218others(6): Show | 9 | 276 | 0.0326 | 9 | c.173 others(28): Show |
PAPSS1 | ENSG00000138801.9 | transcript | ENST00000265174.5 | protein_coding | 11/11 | chr4 | TogoVar | ||||||
| PAPSS2_chr10_87654878_87752705 | 87659881 | C | CGCTGCTG others(2): Show |
5_prime_UTR_variant | MODIFIER | HG01081.hp2 HG01243.hp2 HG01433.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0057a0001c0001t0058others(3): Show | a0001c0001t0009g0155a0001c0001t0009g0212a0001c0001t0009g0213others(12): Show | 15 | 372 | 0.0403 | 9 | c.-83 others(16): Show |
PAPSS2 | ENSG00000198682.13 | transcript | ENST00000456849.2 | protein_coding | 1/13 | 74 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
| PAQR5_chr15_69293912_69412780 | 69301859 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0152a0001c0001t0001g0178a0001c0001t0001g0190others(9): Show | 12 | 284 | 0.0423 | 9 | c.-27 others(28): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| PAQR5_chr15_69293912_69412780 | 69322691 | G | GGAAGAAG others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00733.hp1 HG00738.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017 | a0001c0001t0001g0070a0001c0001t0001g0073a0001c0001t0001g0107others(2): Show | 5 | 284 | 0.0176 | 9 | c.-27 others(30): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| PAQR5_chr15_69293912_69412780 | 69322772 | G | GGAAGAGG others(2): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01517.hp1 NA18939.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185a0001c0001t0001g0210a0001c0001t0001g0211others(2): Show | 5 | 284 | 0.0176 | 9 | c.-27 others(30): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| PAQR5_chr15_69293912_69412780 | 69322811 | G | GGAAGAAG others(2): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02145.hp1 HG02486.hp2 others(8): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0030others(8): Show | 11 | 284 | 0.0387 | 9 | c.-27 others(30): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| PAQR5_chr15_69293912_69412780 | 69327156 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02647.hp1 NA20129.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0021a0002c0002t0002 | a0001c0001t0001g0284a0001c0001t0021g0246a0002c0002t0002g0247 | 3 | 284 | 0.0106 | 9 | c.-27 others(30): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| PAQR5_chr15_69293912_69412780 | 69358633 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00738.hp2 HG01884.hp2 others(34): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0017a0001c0001t0001g0027a0001c0001t0001g0048others(34): Show | 37 | 284 | 0.1303 | 9 | c.-11 others(28): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| PAQR6_chr1_156238320_156253056 | 156240585 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00558.hp2 others(105): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0013others(13): Show | 108 | 402 | 0.2687 | 9 | c.*35 others(20): Show |
PAQR6 | ENSG00000160781.17 | transcript | ENST00000292291.10 | protein_coding | 2734 | chr1 | TogoVar | ||||||
| PAQR8_chr6_52357151_52412777 | 52362004 | C | CGCAGCGG others(2): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG01175.hp1 HG02683.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0014others(5): Show | a0001c0001t0003g0194a0001c0001t0003g0196a0001c0001t0008g0187others(11): Show | 14 | 390 | 0.0359 | 9 | c.-29 others(18): Show |
PAQR8 | ENSG00000170915.9 | transcript | ENST00000442253.3 | protein_coding | 146 | chr6 | TogoVar |