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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PGBD5_chr1_230309490_230431332 | 230354482 | ACCTATGA others(5): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02630.hp2 HG02976.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0085 | a0001c0001t0009g0012a0001c0001t0009g0014a0001c0001t0009g0015others(2): Show | 5 | 288 | 0.0174 | -12 | c.759 others(29): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 2/6 | chr1 | TogoVar | ||||||
PGBD5_chr1_230309490_230431332 | 230375652 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00609.hp2 HG00735.hp2 HG01175.hp2 others(34): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0011a0001c0001t0025others(21): Show | a0001c0001t0002g0135a0001c0001t0002g0140a0001c0001t0002g0141others(34): Show | 37 | 288 | 0.1285 | -12 | c.332 others(31): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
PGBD5_chr1_230309490_230431332 | 230397643 | CCAAATCT others(5): Show |
C | intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0279 | 1 | 288 | 0.0035 | -12 | c.331 others(31): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
PGC_chr6_41731711_41752397 | 41735504 | CCGCCGCC others(5): Show |
C | downstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 464 | 0.0022 | -12 | c.*13 others(23): Show |
PGC | ENSG00000096088.16 | transcript | ENST00000373025.7 | protein_coding | 1206 | chr6 | TogoVar | ||||||
PGC_chr6_41731711_41752397 | 41738227 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG00733.hp2 HG02109.hp1 HG03041.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029a0001c0001t0001g0206a0001c0001t0001g0254 | 5 | 464 | 0.0108 | -12 | c.916 others(27): Show |
PGC | ENSG00000096088.16 | transcript | ENST00000373025.7 | protein_coding | 7/8 | chr6 | TogoVar | ||||||
PGF_chr14_74936834_74960597 | 74940553 | GACACACA others(5): Show |
G | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02258.hp2 HG02273.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0010others(9): Show | 19 | 406 | 0.0468 | -12 | c.*21 others(23): Show |
PGF | ENSG00000119630.14 | transcript | ENST00000555567.6 | protein_coding | 1280 | chr14 | TogoVar | ||||||
PGF_chr14_74936834_74960597 | 74949166 | CTGGTGGG others(5): Show |
C | intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0072 | 1 | 406 | 0.0025 | -12 | c.315 others(27): Show |
PGF | ENSG00000119630.14 | transcript | ENST00000555567.6 | protein_coding | 3/6 | chr14 | TogoVar | ||||||
PGGT1B_chr5_115199012_115267877 | 115207180 | CATATATA others(5): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(92): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(17): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0012others(82): Show | 95 | 372 | 0.2554 | -12 | c.*52 others(23): Show |
PGGT1B | ENSG00000164219.10 | transcript | ENST00000419445.6 | protein_coding | 9/9 | 5210 | chr5 | TogoVar | |||||
PGK1_chrX_78099248_78134295 | 78129220 | CCTATCTA others(5): Show |
C | 3_prime_UTR_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0055 | a0001c0001t0055g0002 | 1 | 308 | 0.0033 | -12 | c.*34 others(23): Show |
PGK1 | ENSG00000102144.15 | transcript | ENST00000373316.5 | protein_coding | 11/11 | 3421 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
PGLS_chr19_17506649_17526288 | 17508983 | TTTTATTT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00558.hp2 others(50): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0002t0005a0001c0004t0001 | a0001c0002t0001g0003a0001c0002t0001g0004a0001c0002t0001g0017others(14): Show | 53 | 442 | 0.1199 | -12 | c.-26 others(23): Show |
PGLS | ENSG00000130313.7 | transcript | ENST00000252603.7 | protein_coding | 2665 | chr19 | TogoVar | ||||||
PGLS_chr19_17506649_17526288 | 17525335 | CTTCATTC others(5): Show |
C | downstream_gene_variant | MODIFIER | NA18985.hp2 NA19005.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 442 | 0.0045 | -12 | c.*42 others(23): Show |
PGLS | ENSG00000130313.7 | transcript | ENST00000252603.7 | protein_coding | 4048 | chr19 | TogoVar | ||||||
PGLYRP2_chr19_15463645_15484501 | 15467834 | TTTTTTTC others(5): Show |
T | downstream_gene_variant | MODIFIER | HG03098.hp1 | a0015 | a0015c0015 | a0015c0015t0001 | a0015c0015t0001g0240 | 1 | 382 | 0.0026 | -12 | c.*81 others(21): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 810 | chr19 | TogoVar | ||||||
PGLYRP2_chr19_15463645_15484501 | 15467838 | TTTCCTTC others(5): Show |
T | downstream_gene_variant | MODIFIER | HG00408.hp2 HG01256.hp2 HG01257.hp2 others(12): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0005c0005t0002 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025others(11): Show | 15 | 382 | 0.0393 | -12 | c.*81 others(21): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 806 | chr19 | TogoVar | ||||||
PGLYRP2_chr19_15463645_15484501 | 15473470 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02155.hp1 HG02922.hp1 others(2): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0005 | a0001c0001t0001a0003c0003t0001a0005c0005t0002 | a0001c0001t0001g0165a0001c0001t0001g0309a0003c0003t0001g0334others(2): Show | 5 | 382 | 0.0131 | -12 | c.113 others(31): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 2/4 | chr19 | TogoVar | ||||||
PGLYRP2_chr19_15463645_15484501 | 15482539 | CCTTTCTT others(5): Show |
C | upstream_gene_variant | MODIFIER | HG03453.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0128 | 1 | 382 | 0.0026 | -12 | c.-31 others(23): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 3039 | chr19 | TogoVar | ||||||
PGLYRP2_chr19_15463645_15484501 | 15482555 | TCTTTCTT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG01515.hp2 HG01517.hp1 HG02559.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0010a0001c0001t0001g0047a0003c0003t0001g0017 | 3 | 382 | 0.0079 | -12 | c.-31 others(23): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 3055 | chr19 | TogoVar | ||||||
PGLYRP2_chr19_15463645_15484501 | 15482559 | TCTTTCTT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG00738.hp1 HG02523.hp1 |
a0003a0004 | a0003c0003a0004c0004 | a0003c0003t0001a0004c0004t0001 | a0003c0003t0001g0133a0004c0004t0001g0087 | 2 | 382 | 0.0052 | -12 | c.-32 others(23): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 3059 | chr19 | TogoVar | ||||||
PGLYRP2_chr19_15463645_15484501 | 15482563 | TCTTCCTT others(5): Show |
T | upstream_gene_variant | MODIFIER | NA19007.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0084 | 1 | 382 | 0.0026 | -12 | c.-32 others(23): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 3063 | chr19 | TogoVar | ||||||
PGLYRP2_chr19_15463645_15484501 | 15482604 | CTTCCTTC others(5): Show |
C | upstream_gene_variant | MODIFIER | HG02523.hp2 HG02735.hp1 NA18985.hp2 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0254a0001c0001t0001g0258a0004c0004t0001g0103 | 3 | 382 | 0.0079 | -12 | c.-32 others(23): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 3104 | chr19 | TogoVar | ||||||
PGLYRP2_chr19_15463645_15484501 | 15482608 | CTTCCTTC others(5): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG01069.hp2 HG01070.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0049a0001c0001t0001g0166others(4): Show | 7 | 382 | 0.0183 | -12 | c.-32 others(23): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 3108 | chr19 | TogoVar | ||||||
PGLYRP2_chr19_15463645_15484501 | 15482612 | CTTCTTTC others(5): Show |
C | upstream_gene_variant | MODIFIER | HG02559.hp1 HG03195.hp1 NA20805.hp2 |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0005 | a0001c0001t0001a0003c0003t0001a0005c0005t0002 | a0001c0001t0001g0024a0003c0003t0001g0017a0005c0005t0002g0033 | 3 | 382 | 0.0079 | -12 | c.-32 others(23): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 3112 | chr19 | TogoVar | ||||||
PGLYRP3_chr1_153292116_153317952 | 153297499 | AAAGGAAG others(5): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0002 | a0002c0002t0094 | a0002c0002t0094g0153 | 1 | 434 | 0.0023 | -12 | c.*44 others(21): Show |
PGLYRP3 | ENSG00000159527.4 | transcript | ENST00000683862.1 | protein_coding | 8/8 | 445 | chr1 | TogoVar | |||||
PGLYRP3_chr1_153292116_153317952 | 153297542 | GGAAGGAA others(5): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00639.hp2 HG01099.hp1 HG01109.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0023 | a0002c0002t0023g0022a0002c0002t0023g0213a0002c0002t0023g0235 | 6 | 434 | 0.0138 | -12 | c.*40 others(21): Show |
PGLYRP3 | ENSG00000159527.4 | transcript | ENST00000683862.1 | protein_coding | 8/8 | 402 | chr1 | TogoVar | |||||
PGLYRP3_chr1_153292116_153317952 | 153297577 | GAAAGAAG others(5): Show |
G | 3_prime_UTR_variant | MODIFIER | HG01884.hp1 NA19077.hp2 |
a0002a0012 | a0002c0011a0012c0015 | a0002c0011t0040a0012c0015t0040 | a0002c0011t0040g0221a0012c0015t0040g0196 | 2 | 434 | 0.0046 | -12 | c.*36 others(21): Show |
PGLYRP3 | ENSG00000159527.4 | transcript | ENST00000683862.1 | protein_coding | 8/8 | 367 | chr1 | TogoVar | |||||
PGLYRP4_chr1_153325120_153353841 | 153350628 | GAAAGGAA others(5): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00597.hp1 HG00733.hp1 others(44): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0016others(15): Show | 47 | 392 | 0.1199 | -12 | c.-21 others(23): Show |
PGLYRP4 | ENSG00000163218.15 | transcript | ENST00000359650.10 | protein_coding | 1788 | chr1 | TogoVar | ||||||
PGM1_chr1_63588411_63665245 | 63604917 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG02572.hp2 HG03130.hp1 HG03209.hp1 others(1): Show |
a0001a0002a0003 | a0001c0006a0002c0002a0003c0003 | a0001c0006t0003a0002c0002t0001a0003c0003t0002others(1): Show | a0001c0006t0003g0141a0002c0002t0001g0124a0003c0003t0002g0142others(1): Show | 4 | 366 | 0.0109 | -12 | c.246 others(31): Show |
PGM1 | ENSG00000079739.17 | transcript | ENST00000371084.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PGM1_chr1_63588411_63665245 | 63615550 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 366 | 0.0027 | -12 | c.247 others(31): Show |
PGM1 | ENSG00000079739.17 | transcript | ENST00000371084.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PGM1_chr1_63588411_63665245 | 63633866 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG00609.hp2 HG01496.hp2 HG01934.hp2 others(31): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0008a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0004a0001c0001t0001g0053a0001c0001t0001g0092others(30): Show | 34 | 366 | 0.0929 | -12 | c.683 others(27): Show |
PGM1 | ENSG00000079739.17 | transcript | ENST00000371084.8 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PGM1_chr1_63588411_63665245 | 63633912 | GTGTGTGT others(5): Show |
G | intron_variant | MODIFIER | NA18906.hp1 | a0005 | a0005c0005 | a0005c0005t0003 | a0005c0005t0003g0044 | 1 | 366 | 0.0027 | -12 | c.683 others(27): Show |
PGM1 | ENSG00000079739.17 | transcript | ENST00000371084.8 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PGM1_chr1_63588411_63665245 | 63647259 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG02040.hp1 NA19058.hp2 |
a0001a0009 | a0001c0001a0009c0012 | a0001c0001t0001a0009c0012t0001 | a0001c0001t0001g0267a0009c0012t0001g0070 | 2 | 366 | 0.0055 | -12 | c.114 others(31): Show |
PGM1 | ENSG00000079739.17 | transcript | ENST00000371084.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PGM1_chr1_63588411_63665245 | 63656596 | GTGTGTGT others(5): Show |
G | intron_variant | MODIFIER | HG01081.hp1 HG01168.hp1 HG01169.hp2 others(30): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0008a0001c0017others(6): Show | a0001c0001t0001a0001c0008t0001a0001c0017t0001others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0077a0001c0001t0001g0088others(28): Show | 33 | 366 | 0.0902 | -12 | c.159 others(31): Show |
PGM1 | ENSG00000079739.17 | transcript | ENST00000371084.8 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PGM2L1_chr11_74325316_74403433 | 74329222 | TAATAAAT others(5): Show |
T | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02257.hp1 HG02258.hp2 others(10): Show |
a0001a0002a0003 | a0001c0004a0002c0002a0003c0003 | a0001c0004t0008a0002c0002t0004a0003c0003t0002 | a0001c0004t0008g0010a0001c0004t0008g0011a0001c0004t0008g0012others(7): Show | 13 | 380 | 0.0342 | -12 | c.*74 others(23): Show |
PGM2L1 | ENSG00000165434.8 | transcript | ENST00000298198.5 | protein_coding | 1093 | chr11 | TogoVar | ||||||
PGM2L1_chr11_74325316_74403433 | 74343769 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0013 | a0001c0013t0031 | a0001c0013t0031g0343 | 1 | 380 | 0.0026 | -12 | c.121 others(29): Show |
PGM2L1 | ENSG00000165434.8 | transcript | ENST00000298198.5 | protein_coding | 9/13 | chr11 | TogoVar | ||||||
PGM2L1_chr11_74325316_74403433 | 74395549 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0236 | 1 | 380 | 0.0026 | -12 | c.111 others(29): Show |
PGM2L1 | ENSG00000165434.8 | transcript | ENST00000298198.5 | protein_coding | 1/13 | chr11 | TogoVar | ||||||
PGM2_chr4_37821686_37867937 | 37864439 | TTTGTTGT others(5): Show |
T | downstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0310 | 1 | 446 | 0.0022 | -12 | c.*28 others(23): Show |
PGM2 | ENSG00000169299.14 | transcript | ENST00000381967.9 | protein_coding | 1503 | chr4 | TogoVar | ||||||
PGM5_chr9_68351611_68536061 | 68356253 | GAAAAAAA others(5): Show |
G | upstream_gene_variant | MODIFIER | NA19003.hp2 | a0004 | a0004c0010 | a0004c0010t0019 | a0004c0010t0019g0245 | 1 | 246 | 0.0041 | -12 | c.-87 others(21): Show |
PGM5 | ENSG00000154330.13 | transcript | ENST00000396396.6 | protein_coding | 357 | chr9 | TogoVar | ||||||
PGM5_chr9_68351611_68536061 | 68357912 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG00735.hp1 others(35): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0008others(9): Show | a0001c0001t0001g0086a0001c0002t0002g0041a0001c0002t0002g0042others(35): Show | 38 | 246 | 0.1545 | -12 | c.261 others(27): Show |
PGM5 | ENSG00000154330.13 | transcript | ENST00000396396.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PGM5_chr9_68351611_68536061 | 68376475 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00609.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0008 | a0001c0001t0002g0071a0001c0001t0002g0072a0001c0001t0002g0074others(8): Show | 11 | 246 | 0.0447 | -12 | c.262 others(29): Show |
PGM5 | ENSG00000154330.13 | transcript | ENST00000396396.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PGM5_chr9_68351611_68536061 | 68376765 | ATTTCTTT others(5): Show |
A | intron_variant | MODIFIER | HG01168.hp1 HG01261.hp1 HG02155.hp2 others(8): Show |
a0001a0003a0004 | a0001c0001a0001c0006a0003c0013others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0185a0001c0001t0001g0186a0001c0001t0002g0074others(8): Show | 11 | 246 | 0.0447 | -12 | c.262 others(29): Show |
PGM5 | ENSG00000154330.13 | transcript | ENST00000396396.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PGM5_chr9_68351611_68536061 | 68376825 | CTTTCTTT others(5): Show |
C | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 246 | 0.0041 | -12 | c.262 others(29): Show |
PGM5 | ENSG00000154330.13 | transcript | ENST00000396396.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PGM5_chr9_68351611_68536061 | 68401885 | ATATATGT others(5): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp2 HG01106.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0017a0001c0002t0002others(1): Show | a0001c0001t0003g0159a0001c0001t0017g0098a0001c0002t0002g0058others(3): Show | 6 | 246 | 0.0244 | -12 | c.104 others(31): Show |
PGM5 | ENSG00000154330.13 | transcript | ENST00000396396.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PGM5_chr9_68351611_68536061 | 68406666 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00741.hp2 HG01169.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0086a0001c0001t0001g0111a0001c0001t0001g0115others(13): Show | 16 | 246 | 0.0650 | -12 | c.104 others(33): Show |
PGM5 | ENSG00000154330.13 | transcript | ENST00000396396.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PGM5_chr9_68351611_68536061 | 68410558 | TGAGGAGG others(5): Show |
T | intron_variant | MODIFIER | HG02258.hp2 HG02572.hp1 HG02622.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0009 | a0001c0001t0002g0005a0001c0001t0002g0070a0001c0001t0005g0008others(1): Show | 4 | 246 | 0.0163 | -12 | c.104 others(33): Show |
PGM5 | ENSG00000154330.13 | transcript | ENST00000396396.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PGM5_chr9_68351611_68536061 | 68415779 | ATATCTAT others(5): Show |
A | intron_variant | MODIFIER | HG01175.hp1 HG01891.hp2 HG02257.hp1 others(5): Show |
a0001a0003 | a0001c0004a0003c0019 | a0001c0004t0002a0001c0004t0005a0001c0004t0027others(2): Show | a0001c0004t0002g0238a0001c0004t0002g0242a0001c0004t0002g0243others(5): Show | 8 | 246 | 0.0325 | -12 | c.104 others(33): Show |
PGM5 | ENSG00000154330.13 | transcript | ENST00000396396.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PGM5_chr9_68351611_68536061 | 68529164 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG00609.hp2 NA18965.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0078a0001c0001t0008g0081 | 2 | 246 | 0.0081 | -12 | c.161 others(29): Show |
PGM5 | ENSG00000154330.13 | transcript | ENST00000396396.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PGPEP1L_chr15_98963229_99012792 | 98979633 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 398 | 0.0025 | -12 | c.-14 others(31): Show |
PGPEP1L | ENSG00000183571.11 | transcript | ENST00000535714.2 | protein_coding | 2/4 | chr15 | TogoVar | ||||||
PGPEP1L_chr15_98963229_99012792 | 98982700 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG03139.hp1 | a0000 | a0000c0002 | a0000c0002t0001 | a0000c0002t0001g0072 | 1 | 398 | 0.0025 | -12 | c.-14 others(33): Show |
PGPEP1L | ENSG00000183571.11 | transcript | ENST00000535714.2 | protein_coding | 2/4 | chr15 | TogoVar | ||||||
PGPEP1L_chr15_98963229_99012792 | 98984009 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG02886.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0028a0001c0001t0034 | a0001c0001t0003g0217a0001c0001t0003g0243a0001c0001t0028g0215others(1): Show | 4 | 398 | 0.0101 | -12 | c.-14 others(33): Show |
PGPEP1L | ENSG00000183571.11 | transcript | ENST00000535714.2 | protein_coding | 2/4 | chr15 | TogoVar | ||||||
PGPEP1_chr19_18335598_18374950 | 18370831 | GGGCACGG others(5): Show |
G | downstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0163 | a0001c0001t0163g0166 | 1 | 412 | 0.0024 | -12 | c.*72 others(23): Show |
PGPEP1 | ENSG00000130517.14 | transcript | ENST00000269919.11 | protein_coding | 882 | chr19 | TogoVar | ||||||
PGP_chr16_2206593_2219840 | 2219319 | TTTTTTAT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02109.hp2 others(17): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0002a0001c0001t0004a0001c0001t0015others(4): Show | a0001c0001t0002g0002a0001c0001t0004g0004a0001c0001t0015g0018others(4): Show | 20 | 452 | 0.0443 | -12 | c.-45 others(23): Show |
PGP | ENSG00000184207.9 | transcript | ENST00000333503.8 | protein_coding | 4480 | chr16 | TogoVar |