view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PEX19_chr1_160271807_160290133 | 160273736 | TCTCCTGC | T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(146): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0007 | a0001c0001t0002a0001c0001t0011a0001c0001t0019others(4): Show | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0015 others(9): Show |
149 | 378 | 0.3942 | -7 | c.*58 others(18): Show |
PEX19 | ENSG00000162735.19 | transcript | ENST00000368072.10 | protein_coding | 3070 | chr1 | TogoVar | |||||||
PEX1_chr7_92482025_92533520 | 92530177 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG01884.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0111 others(4): Show |
7 | 310 | 0.0226 | -7 | c.-17 others(18): Show |
PEX1 | ENSG00000127980.16 | transcript | ENST00000248633.9 | protein_coding | 1658 | chr7 | TogoVar | |||||||
PEX26_chr22_18072990_18110396 | 18101807 | TCTGGGGC | T | 3_prime_UTR_variant | MODIFIER | HG01099.hp1 HG02572.hp1 HG02630.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0038a0001c0001t0055a0001c0001t0106others(1): Show | a0001c0001t0038g0053 a0001c0001t0038g0056 a0001c0001t0055g0015 others(2): Show |
5 | 398 | 0.0126 | -7 | c.*13 others(20): Show |
PEX26 | ENSG00000215193.14 | transcript | ENST00000399744.8 | protein_coding | 5/5 | 13735 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PEX3_chr6_143445805_143495616 | 143455359 | ATTTTTTT | A | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp2 HG00621.hp2 others(69): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(2): Show | a0001c0001t0001g0013 a0001c0001t0001g0054 a0001c0001t0001g0185 others(37): Show |
72 | 412 | 0.1748 | -7 | c.74- others(22): Show |
PEX3 | ENSG00000034693.15 | transcript | ENST00000367591.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PEX5L_chr3_179789958_180041937 | 179797588 | TTAAAAAA | T | 3_prime_UTR_variant | MODIFIER | HG02572.hp1 HG02895.hp2 HG02965.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0016a0002c0002t0016 | a0001c0001t0016g0197 a0001c0001t0016g0200 a0002c0002t0016g0187 |
3 | 220 | 0.0136 | -7 | c.*42 others(18): Show |
PEX5L | ENSG00000114757.19 | transcript | ENST00000467460.6 | protein_coding | 15/15 | 4233 | chr3 | TogoVar | ||||||
PEX5_chr12_7184686_7216459 | 7196969 | GTAATAAT | G | intron_variant | MODIFIER | HG02818.hp2 HG02895.hp1 HG02896.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0007a0002c0002t0007 | a0001c0001t0007g0028 a0001c0001t0007g0163 a0001c0001t0007g0165 others(1): Show |
5 | 428 | 0.0117 | -7 | c.449 others(24): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PEX5_chr12_7184686_7216459 | 7197460 | TAATTATA | T | intron_variant | MODIFIER | HG02738.hp2 NA18952.hp2 NA18968.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0033 a0001c0001t0003g0188 a0001c0001t0003g0196 |
4 | 428 | 0.0094 | -7 | c.449 others(24): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | chr12 | TogoVar | |||||||
PEX5_chr12_7184686_7216459 | 7203181 | ATGCACTG | A | intron_variant | MODIFIER | HG00438.hp2 HG01099.hp2 HG01243.hp2 others(38): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0003a0001c0001t0004a0001c0003t0004others(1): Show | a0001c0001t0003g0005 a0001c0001t0003g0010 a0001c0001t0003g0016 others(26): Show |
41 | 428 | 0.0958 | -7 | c.847 others(22): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 9/15 | chr12 | TogoVar | |||||||
PEX5_chr12_7184686_7216459 | 7212464 | GAAAAAAA | G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00438.hp1 others(145): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0013others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(122): Show |
148 | 428 | 0.3458 | -7 | c.*22 others(18): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 1006 | chr12 | TogoVar | |||||||
PEX6_chr6_42958865_42984181 | 42961550 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00597.hp2 others(148): Show |
a0001a0002a0003others(10): Show | a0001c0005a0001c0008a0002c0002others(13): Show | a0001c0005t0001a0001c0008t0001a0002c0002t0001others(14): Show | a0001c0005t0001g0039 a0001c0005t0001g0075 a0001c0005t0001g0094 others(94): Show |
151 | 378 | 0.3995 | -7 | c.*27 others(18): Show |
PEX6 | ENSG00000124587.14 | transcript | ENST00000304611.13 | protein_coding | 2314 | chr6 | TogoVar | |||||||
PFKFB3_chr10_6197932_6240532 | 6210349 | TTTTTTTG | T | intron_variant | MODIFIER | HG00423.hp1 HG01109.hp2 HG01169.hp2 others(13): Show |
a0001 | a0001c0001a0001c0004a0001c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0183 a0001c0001t0001g0340 a0001c0001t0002g0395 others(12): Show |
16 | 432 | 0.0370 | -7 | c.77- others(22): Show |
PFKFB3 | ENSG00000170525.21 | transcript | ENST00000379775.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3081977 | CTTTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00733.hp2 HG00741.hp1 others(10): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(9): Show | a0001c0001t0002g0225 a0001c0001t0002g0381 a0001c0001t0003g0380 others(10): Show |
13 | 402 | 0.0323 | -7 | c.113 others(22): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3121824 | TTTTTTTC | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(148): Show |
a0001a0007a0010 | a0001c0001a0001c0002a0001c0003others(34): Show | a0001c0001t0002a0001c0001t0006a0001c0002t0001others(47): Show | a0001c0001t0002g0006 a0001c0001t0002g0036 a0001c0001t0002g0037 others(148): Show |
151 | 402 | 0.3756 | -7 | c.168 others(26): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PGA4_chr11_61217347_61236694 | 61221891 | AAAGAAAG | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(102): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0004a0001c0015others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(10): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0008 others(42): Show |
105 | 304 | 0.3454 | -7 | c.-50 others(16): Show |
PGA4 | ENSG00000229183.10 | transcript | ENST00000378149.9 | protein_coding | 455 | chr11 | TogoVar | |||||||
PGA5_chr11_61236175_61256444 | 61240717 | AAAGAAAG | A | upstream_gene_variant | MODIFIER | HG00544.hp1 HG01884.hp2 HG02165.hp2 others(13): Show |
a0001a0002a0004 | a0001c0001a0001c0006a0001c0017others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0006t0002others(5): Show | a0001c0001t0001g0003 a0001c0001t0001g0105 a0001c0001t0003g0001 others(9): Show |
16 | 406 | 0.0394 | -7 | c.-50 others(16): Show |
PGA5 | ENSG00000256713.8 | transcript | ENST00000312403.10 | protein_coding | 457 | chr11 | TogoVar | |||||||
PGAM1_chr10_97421191_97438444 | 97425908 | ACCCGCCG | A | upstream_gene_variant | MODIFIER | HG00597.hp2 HG01109.hp1 HG01257.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 others(3): Show |
12 | 438 | 0.0274 | -7 | c.-39 others(16): Show |
PGAM1 | ENSG00000171314.9 | transcript | ENST00000334828.6 | protein_coding | 282 | chr10 | TogoVar | |||||||
PGAM1_chr10_97421191_97438444 | 97425926 | GCCGCCCT | G | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00735.hp2 HG01074.hp1 others(22): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0002 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(13): Show |
25 | 438 | 0.0571 | -7 | c.-38 others(16): Show |
PGAM1 | ENSG00000171314.9 | transcript | ENST00000334828.6 | protein_coding | 264 | chr10 | TogoVar | |||||||
PGAP1_chr2_196828004_196931707 | 196912580 | TAAAAAAA | T | intron_variant | MODIFIER | HG00642.hp1 HG00733.hp1 HG01069.hp1 others(40): Show |
a0001a0003 | a0001c0001a0001c0006a0003c0005 | a0001c0001t0002a0001c0001t0011a0001c0001t0018others(2): Show | a0001c0001t0002g0007 a0001c0001t0002g0131 a0001c0001t0002g0132 others(39): Show |
43 | 188 | 0.2287 | -7 | c.649 others(22): Show |
PGAP1 | ENSG00000197121.15 | transcript | ENST00000354764.9 | protein_coding | 4/26 | chr2 | TogoVar | |||||||
PGAP6_chr16_365788_386978 | 383843 | GGGTTTAC | G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(82): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0034a0002c0002others(9): Show | a0001c0001t0008a0001c0034t0003a0002c0002t0001others(18): Show | a0001c0001t0008g0033 a0001c0034t0003g0113 a0002c0002t0001g0003 others(45): Show |
85 | 376 | 0.2261 | -7 | c.-20 others(18): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 1866 | chr16 | TogoVar | |||||||
PGBD2_chr1_248901235_248924146 | 248917654 | TTAAACTG | T | frameshift_variant | HIGH | HG00323.hp1 | a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0001 | 1 | 422 | 0.0024 | -7 | c.107 others(16): Show |
p.Lys others(5): Show |
PGBD2 | ENSG00000185220.12 | transcript | ENST00000329291.6 | protein_coding | 3/3 | 1226/2717 | 1071/1779 | 357/592 | chr1 | TogoVar | |||
PGBD5_chr1_230309490_230431332 | 230312430 | ATTTTTTT | A | downstream_gene_variant | MODIFIER | HG00609.hp1 HG01106.hp1 HG02040.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0029a0001c0001t0051a0001c0001t0052others(5): Show | a0001c0001t0029g0088 a0001c0001t0029g0171 a0001c0001t0051g0087 others(6): Show |
9 | 288 | 0.0313 | -7 | c.*10 others(20): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 2059 | chr1 | TogoVar | |||||||
PGBD5_chr1_230309490_230431332 | 230382283 | ATTTTAAT | A | intron_variant | MODIFIER | HG00741.hp1 HG01070.hp1 HG01192.hp1 others(19): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0010a0001c0001t0030a0001c0001t0049others(14): Show | a0001c0001t0010g0018 a0001c0001t0030g0158 a0001c0001t0049g0181 others(19): Show |
22 | 288 | 0.0764 | -7 | c.332 others(26): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
PGK1_chrX_78099248_78134295 | 78106898 | CAACTTGT | C | intron_variant | MODIFIER | HG01081.hp2 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0013 | a0001c0001t0006g0130 a0001c0001t0013g0152 |
2 | 308 | 0.0065 | -7 | c.65+ others(22): Show |
PGK1 | ENSG00000102144.15 | transcript | ENST00000373316.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PGK1_chrX_78099248_78134295 | 78109603 | TACCACAA | T | intron_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0133 | 1 | 308 | 0.0033 | -7 | c.66- others(20): Show |
PGK1 | ENSG00000102144.15 | transcript | ENST00000373316.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PGK1_chrX_78099248_78134295 | 78122408 | TTTGTGTG | T | intron_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0126 | 1 | 308 | 0.0033 | -7 | c.642 others(22): Show |
PGK1 | ENSG00000102144.15 | transcript | ENST00000373316.5 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PGK2_chr6_49780660_49792285 | 49790660 | GACTAAAT | G | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp1 others(218): Show |
a0001a0003a0007 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(6): Show | a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0003t0001g0000 others(6): Show |
221 | 406 | 0.5443 | -7 | c.-34 others(18): Show |
PGK2 | ENSG00000170950.6 | transcript | ENST00000304801.6 | protein_coding | 3376 | chr6 | TogoVar | |||||||
PGLS_chr19_17506649_17526288 | 17510586 | CTACTTTA | C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG02040.hp1 NA18943.hp2 others(7): Show |
a0001a0007 | a0001c0001a0007c0009 | a0001c0001t0001a0007c0009t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(3): Show |
10 | 442 | 0.0226 | -7 | c.-10 others(18): Show |
PGLS | ENSG00000130313.7 | transcript | ENST00000252603.7 | protein_coding | 1062 | chr19 | TogoVar | |||||||
PGLYRP2_chr19_15463645_15484501 | 15470238 | TTCTTTCC | T | intron_variant | MODIFIER | HG02148.hp2 HG02735.hp1 NA18951.hp1 others(8): Show |
a0002a0004a0027 | a0002c0002a0004c0004a0027c0032 | a0002c0002t0001a0004c0004t0001a0027c0032t0001 | a0002c0002t0001g0005 a0002c0002t0001g0050 a0002c0002t0001g0054 others(6): Show |
11 | 382 | 0.0288 | -7 | c.134 others(24): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 3/4 | chr19 | TogoVar | |||||||
PGLYRP2_chr19_15463645_15484501 | 15473470 | CAAAAAAA | C | intron_variant | MODIFIER | HG00738.hp2 HG01069.hp2 HG01167.hp2 others(16): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(5): Show | a0001c0001t0001g0166 a0001c0001t0001g0228 a0001c0001t0001g0280 others(16): Show |
19 | 382 | 0.0497 | -7 | c.113 others(26): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
PGM1_chr1_63588411_63665245 | 63615547 | CTTCTTTT | C | intron_variant | MODIFIER | HG01192.hp1 HG02055.hp2 HG02257.hp1 others(4): Show |
a0001a0005a0006others(2): Show | a0001c0006a0005c0005a0006c0013others(2): Show | a0001c0006t0003a0005c0005t0003a0006c0013t0001others(2): Show | a0001c0006t0003g0141 a0001c0006t0003g0145 a0001c0006t0003g0148 others(4): Show |
7 | 366 | 0.0191 | -7 | c.247 others(26): Show |
PGM1 | ENSG00000079739.17 | transcript | ENST00000371084.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PGM2L1_chr11_74325316_74403433 | 74402439 | TATATATA | T | upstream_gene_variant | MODIFIER | HG02145.hp2 HG02896.hp2 HG03041.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0042 | a0001c0001t0002g0273 a0001c0001t0002g0306 a0001c0001t0002g0327 others(1): Show |
4 | 380 | 0.0105 | -7 | c.-42 others(18): Show |
PGM2L1 | ENSG00000165434.8 | transcript | ENST00000298198.5 | protein_coding | 4007 | chr11 | TogoVar | |||||||
PGM2_chr4_37821686_37867937 | 37853359 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(173): Show |
a0001a0002a0009others(1): Show | a0001c0001a0001c0005a0002c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(148): Show |
176 | 446 | 0.3946 | -7 | c.160 others(26): Show |
PGM2 | ENSG00000169299.14 | transcript | ENST00000381967.9 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PGM5_chr9_68351611_68536061 | 68422457 | GTTTTGTT | G | intron_variant | MODIFIER | HG01891.hp2 HG02572.hp2 NA18906.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0002 | a0001c0001t0001g0109 a0001c0001t0001g0116 a0001c0004t0002g0238 others(1): Show |
4 | 246 | 0.0163 | -7 | c.104 others(28): Show |
PGM5 | ENSG00000154330.13 | transcript | ENST00000396396.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PGPEP1L_chr15_98963229_99012792 | 98971194 | TGGGGGGG | T | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(118): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(116): Show |
121 | 398 | 0.3040 | -7 | c.-14 others(22): Show |
PGPEP1L | ENSG00000183571.11 | transcript | ENST00000535714.2 | protein_coding | 2/4 | chr15 | TogoVar | |||||||
PGPEP1L_chr15_98963229_99012792 | 98971204 | GGGGGGGT | G | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00735.hp1 others(57): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 others(57): Show |
60 | 398 | 0.1508 | -7 | c.-14 others(22): Show |
PGPEP1L | ENSG00000183571.11 | transcript | ENST00000535714.2 | protein_coding | 2/4 | chr15 | TogoVar | |||||||
PGPEP1L_chr15_98963229_99012792 | 98978726 | ATTTTTTT | A | intron_variant | MODIFIER | HG01884.hp1 HG02723.hp2 HG03098.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0002c0002t0002 | a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0053 others(3): Show |
6 | 398 | 0.0151 | -7 | c.-14 others(26): Show |
PGPEP1L | ENSG00000183571.11 | transcript | ENST00000535714.2 | protein_coding | 2/4 | chr15 | TogoVar | |||||||
PGPEP1L_chr15_98963229_99012792 | 98979633 | CTTTTTTT | C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp1 others(80): Show |
a0001a0002a0006 | a0001c0001a0001c0009a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(78): Show |
83 | 398 | 0.2085 | -7 | c.-14 others(26): Show |
PGPEP1L | ENSG00000183571.11 | transcript | ENST00000535714.2 | protein_coding | 2/4 | chr15 | TogoVar | |||||||
PGPEP1L_chr15_98963229_99012792 | 98982700 | CTTTTTTT | C | intron_variant | MODIFIER | HG00642.hp1 HG02280.hp1 HG02451.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0010a0001c0001t0013others(2): Show | a0001c0001t0003g0242 a0001c0001t0010g0245 a0001c0001t0013g0009 others(5): Show |
8 | 398 | 0.0201 | -7 | c.-14 others(28): Show |
PGPEP1L | ENSG00000183571.11 | transcript | ENST00000535714.2 | protein_coding | 2/4 | chr15 | TogoVar | |||||||
PGR_chr11_101024624_101134813 | 101046292 | ATTTTTTT | A | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp2 HG02647.hp1 others(4): Show |
a0001a0003a0011 | a0001c0002a0003c0005a0011c0009 | a0001c0002t0046a0001c0002t0048a0001c0002t0049others(4): Show | a0001c0002t0046g0101 a0001c0002t0048g0079 a0001c0002t0049g0080 others(4): Show |
7 | 254 | 0.0276 | -7 | c.248 others(26): Show |
PGR | ENSG00000082175.16 | transcript | ENST00000325455.10 | protein_coding | 6/7 | chr11 | TogoVar | |||||||
PGR_chr11_101024624_101134813 | 101053360 | GCTACTCT | G | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG01074.hp1 others(16): Show |
a0002a0008a0009others(1): Show | a0002c0004a0002c0015a0002c0016others(3): Show | a0002c0004t0005a0002c0004t0015a0002c0004t0020others(9): Show | a0002c0004t0005g0025 a0002c0004t0005g0026 a0002c0004t0005g0027 others(16): Show |
19 | 254 | 0.0748 | -7 | c.221 others(26): Show |
PGR | ENSG00000082175.16 | transcript | ENST00000325455.10 | protein_coding | 4/7 | chr11 | TogoVar | |||||||
PGR_chr11_101024624_101134813 | 101055414 | CAAAAAAA | C | intron_variant | MODIFIER | HG00733.hp1 HG02717.hp2 HG02895.hp2 others(2): Show |
a0001a0006 | a0001c0002a0006c0010 | a0001c0002t0022a0001c0002t0026a0006c0010t0004 | a0001c0002t0022g0043 a0001c0002t0022g0055 a0001c0002t0026g0042 others(2): Show |
5 | 254 | 0.0197 | -7 | c.221 others(26): Show |
PGR | ENSG00000082175.16 | transcript | ENST00000325455.10 | protein_coding | 4/7 | chr11 | TogoVar | |||||||
PGS1_chr17_78373649_78429659 | 78387428 | TAGCTGGG | T | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00609.hp1 others(45): Show |
a0001a0006 | a0001c0001a0006c0016 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0217 a0001c0001t0001g0333 a0001c0001t0001g0334 others(45): Show |
48 | 398 | 0.1206 | -7 | c.144 others(24): Show |
PGS1 | ENSG00000087157.19 | transcript | ENST00000262764.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PGS1_chr17_78373649_78429659 | 78410462 | CTTTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(131): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0067 others(128): Show |
134 | 398 | 0.3367 | -7 | c.140 others(26): Show |
PGS1 | ENSG00000087157.19 | transcript | ENST00000262764.11 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PGS1_chr17_78373649_78429659 | 78421898 | AGCGGGCG | A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00438.hp1 others(46): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(8): Show | a0001c0001t0001g0219 a0001c0001t0001g0242 a0001c0001t0001g0262 others(44): Show |
49 | 398 | 0.1231 | -7 | c.*11 others(24): Show |
PGS1 | ENSG00000087157.19 | transcript | ENST00000262764.11 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PGS1_chr17_78373649_78429659 | 78425756 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG00733.hp2 HG01123.hp2 HG02055.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(1): Show | a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0347 others(16): Show |
19 | 398 | 0.0477 | -7 | c.*17 others(18): Show |
PGS1 | ENSG00000087157.19 | transcript | ENST00000262764.11 | protein_coding | 1098 | chr17 | TogoVar | |||||||
PGS1_chr17_78373649_78429659 | 78428923 | TTAAAAAA | T | downstream_gene_variant | MODIFIER | HG01106.hp1 HG02055.hp1 HG02559.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0002t0002a0001c0003t0002others(1): Show | a0001c0001t0002g0345 a0001c0002t0002g0073 a0001c0003t0002g0079 others(11): Show |
14 | 398 | 0.0352 | -7 | c.*48 others(18): Show |
PGS1 | ENSG00000087157.19 | transcript | ENST00000262764.11 | protein_coding | 4265 | chr17 | TogoVar | |||||||
PHACTR1_chr6_12711767_13292837 | 12860896 | GATGTATT | G | intron_variant | MODIFIER | HG02486.hp1 HG02717.hp2 HG03209.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0065 a0001c0001t0002g0009 others(3): Show |
6 | 108 | 0.0556 | -7 | c.250 others(28): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 12889728 | CTTCTTCT | C | intron_variant | MODIFIER | HG01109.hp1 HG01168.hp1 HG01361.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0032 others(6): Show |
9 | 108 | 0.0833 | -7 | c.250 others(28): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 12956418 | GAGATAAC | G | intron_variant | MODIFIER | HG01496.hp2 HG02109.hp1 HG02647.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0038 others(3): Show |
6 | 108 | 0.0556 | -7 | c.251 others(26): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 13195757 | CAAAAAAA | C | intron_variant | MODIFIER | HG02027.hp2 HG02258.hp1 HG02280.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(3): Show | a0001c0001t0002g0072 a0001c0001t0003g0099 a0001c0002t0001g0013 others(6): Show |
9 | 108 | 0.0833 | -7 | c.665 others(26): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |