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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PGA3_chr11_61198515_61218098 | 61201211 | A | AAAGTGGA others(2): Show |
upstream_gene_variant | MODIFIER | HG00597.hp2 HG01496.hp2 HG02280.hp2 others(6): Show |
a0002 | a0002c0002a0002c0016 | a0002c0002t0001a0002c0002t0002a0002c0002t0006others(1): Show | a0002c0002t0001g0027a0002c0002t0001g0028a0002c0002t0001g0082others(5): Show | 9 | 311 | 0.0289 | 9 | c.-23 others(20): Show |
PGA3 | ENSG00000229859.10 | transcript | ENST00000325558.11 | protein_coding | 2303 | chr11 | TogoVar | ||||||
PGAM5_chr12_132705842_132727734 | 132707728 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG01069.hp1 HG01243.hp1 others(35): Show |
a0001a0004 | a0001c0001a0001c0004a0001c0008others(1): Show | a0001c0001t0003a0001c0001t0009a0001c0001t0013others(6): Show | a0001c0001t0003g0003a0001c0001t0003g0007a0001c0001t0003g0012others(28): Show | 38 | 394 | 0.0965 | 9 | c.-31 others(20): Show |
PGAM5 | ENSG00000247077.8 | transcript | ENST00000498926.7 | protein_coding | 3113 | chr12 | TogoVar | ||||||
PGAP6_chr16_365788_386978 | 381399 | C | CGGCGCCG others(2): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02257.hp2 HG02647.hp2 others(9): Show |
a0001a0018 | a0001c0001a0001c0004a0018c0031 | a0001c0001t0002a0001c0004t0001a0001c0004t0002others(3): Show | a0001c0001t0002g0044a0001c0001t0002g0045a0001c0004t0001g0114others(8): Show | 12 | 376 | 0.0319 | 9 | c.121 others(24): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 1/12 | chr16 | TogoVar | ||||||
PGK1_chrX_78099248_78134295 | 78128213 | C | CTTTACTT others(2): Show |
3_prime_UTR_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0101 | 1 | 308 | 0.0033 | 9 | c.*23 others(20): Show |
PGK1 | ENSG00000102144.15 | transcript | ENST00000373316.5 | protein_coding | 11/11 | 2384 | chrX | TogoVar | |||||
PGLYRP2_chr19_15463645_15484501 | 15467838 | T | TTTTCCTT others(2): Show |
downstream_gene_variant | MODIFIER | HG02572.hp1 HG02723.hp2 HG02895.hp2 others(6): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0005others(1): Show | a0001c0001t0001a0002c0002t0001a0005c0005t0002others(1): Show | a0001c0001t0001g0013a0001c0001t0001g0271a0002c0002t0001g0002others(5): Show | 9 | 382 | 0.0236 | 9 | c.*82 others(18): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 806 | chr19 | TogoVar | ||||||
PGLYRP2_chr19_15463645_15484501 | 15470237 | T | TTTTCTTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00741.hp1 HG01358.hp1 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0003a0002c0002t0001a0003c0003t0001others(1): Show | a0001c0001t0003g0046a0002c0002t0001g0053a0002c0002t0001g0107others(10): Show | 13 | 382 | 0.0340 | 9 | c.134 others(26): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 3/4 | chr19 | TogoVar | ||||||
PGLYRP3_chr1_153292116_153317952 | 153300776 | A | AACGATGT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(283): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0009others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(90): Show | a0001c0001t0001g0002a0001c0001t0001g0033a0001c0001t0001g0075others(151): Show | 286 | 434 | 0.6590 | 9 | c.729 others(26): Show |
PGLYRP3 | ENSG00000159527.4 | transcript | ENST00000683862.1 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
PGLYRP4_chr1_153325120_153353841 | 153350648 | A | AGAAAGAA others(2): Show |
upstream_gene_variant | MODIFIER | HG02132.hp1 HG03516.hp2 NA18985.hp2 others(5): Show |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0001a0006c0006t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0097others(2): Show | 8 | 392 | 0.0204 | 9 | c.-21 others(20): Show |
PGLYRP4 | ENSG00000163218.15 | transcript | ENST00000359650.10 | protein_coding | 1808 | chr1 | TogoVar | ||||||
PGM1_chr1_63588411_63665245 | 63664256 | T | TGTGATTC others(2): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00621.hp2 HG01192.hp1 others(66): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0006a0001c0014others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(19): Show | a0001c0001t0001g0155a0001c0001t0001g0161a0001c0001t0001g0167others(66): Show | 69 | 366 | 0.1885 | 9 | c.*45 others(20): Show |
PGM1 | ENSG00000079739.17 | transcript | ENST00000371084.8 | protein_coding | 4012 | chr1 | TogoVar | ||||||
PGM2L1_chr11_74325316_74403433 | 74326545 | C | CGTAGGTG others(2): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(256): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0009others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(50): Show | a0001c0001t0001g0001a0001c0001t0001g0099a0001c0001t0001g0129others(247): Show | 259 | 380 | 0.6816 | 9 | c.*10 others(22): Show |
PGM2L1 | ENSG00000165434.8 | transcript | ENST00000298198.5 | protein_coding | 3770 | chr11 | TogoVar | ||||||
PGM2L1_chr11_74325316_74403433 | 74402599 | T | TAATATAT others(2): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(119): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0004a0001c0009others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0042others(28): Show | a0001c0001t0002g0273a0001c0001t0002g0306a0001c0001t0002g0327others(113): Show | 122 | 380 | 0.3211 | 9 | c.-44 others(20): Show |
PGM2L1 | ENSG00000165434.8 | transcript | ENST00000298198.5 | protein_coding | 4167 | chr11 | TogoVar | ||||||
PGM2_chr4_37821686_37867937 | 37831192 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG02027.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121a0001c0001t0001g0122a0001c0001t0001g0123others(4): Show | 7 | 446 | 0.0157 | 9 | c.249 others(26): Show |
PGM2 | ENSG00000169299.14 | transcript | ENST00000381967.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PGM2_chr4_37821686_37867937 | 37841188 | G | GTGTGTGT others(2): Show |
intron_variant | MODIFIER | HG00733.hp2 HG02055.hp1 HG02258.hp2 others(2): Show |
a0001a0010 | a0001c0002a0001c0004a0010c0016 | a0001c0002t0002a0001c0004t0001a0010c0016t0002 | a0001c0002t0002g0078a0001c0002t0002g0101a0001c0002t0002g0250others(2): Show | 5 | 446 | 0.0112 | 9 | c.719 others(24): Show |
PGM2 | ENSG00000169299.14 | transcript | ENST00000381967.9 | protein_coding | 6/13 | chr4 | TogoVar | ||||||
PGM3_chr6_83159873_83198265 | 83193331 | T | TCCGCCAG others(2): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00558.hp1 others(88): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0002c0002t0002a0002c0002t0007others(4): Show | a0001c0001t0001g0090a0001c0001t0001g0141a0001c0001t0001g0142others(35): Show | 91 | 344 | 0.2645 | 9 | c.-16 others(18): Show |
PGM3 | ENSG00000013375.17 | transcript | ENST00000513973.6 | protein_coding | 67 | chr6 | TogoVar | ||||||
PGM5_chr9_68351611_68536061 | 68376835 | C | CTTTCTTT others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00735.hp1 HG01109.hp2 others(5): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0002a0001c0002t0008a0001c0002t0013others(2): Show | a0001c0002t0002g0016a0001c0002t0002g0027a0001c0002t0002g0038others(5): Show | 8 | 246 | 0.0325 | 9 | c.262 others(26): Show |
PGM5 | ENSG00000154330.13 | transcript | ENST00000396396.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PGPEP1L_chr15_98963229_99012792 | 98987165 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01361.hp2 HG02074.hp1 others(6): Show |
a0000a0001a0003 | a0000c0002a0001c0001a0001c0009others(1): Show | a0000c0002t0002a0000c0002t0035a0001c0001t0002others(5): Show | a0000c0002t0002g0262a0000c0002t0035g0340a0001c0001t0002g0271others(6): Show | 9 | 398 | 0.0226 | 9 | c.-14 others(30): Show |
PGPEP1L | ENSG00000183571.11 | transcript | ENST00000535714.2 | protein_coding | 2/4 | chr15 | TogoVar | ||||||
PGPEP1_chr19_18335598_18374950 | 18338732 | T | TAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00544.hp2 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0008others(29): Show | a0001c0001t0003g0008a0001c0001t0003g0112a0001c0001t0004g0269others(30): Show | 33 | 412 | 0.0801 | 9 | c.-19 others(20): Show |
PGPEP1 | ENSG00000130517.14 | transcript | ENST00000269919.11 | protein_coding | 1865 | chr19 | TogoVar | ||||||
PGPEP1_chr19_18335598_18374950 | 18352266 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00609.hp2 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0048others(39): Show | a0001c0001t0003g0008a0001c0001t0003g0354a0001c0001t0006g0001others(44): Show | 49 | 412 | 0.1189 | 9 | c.88- others(24): Show |
PGPEP1 | ENSG00000130517.14 | transcript | ENST00000269919.11 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PGPEP1_chr19_18335598_18374950 | 18364083 | G | GCTTTTCT others(2): Show |
3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG02257.hp1 HG02273.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0076a0001c0001t0077a0001c0001t0078others(4): Show | a0001c0001t0076g0362a0001c0001t0077g0230a0001c0001t0078g0208others(4): Show | 7 | 412 | 0.0170 | 9 | c.*50 others(18): Show |
PGPEP1 | ENSG00000130517.14 | transcript | ENST00000269919.11 | protein_coding | 5/5 | 505 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
PHACTR1_chr6_12711767_13292837 | 12891771 | T | TTGTACTA others(2): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01167.hp2 HG01175.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0011a0001c0001t0001g0018a0001c0001t0001g0020others(22): Show | 25 | 108 | 0.2315 | 9 | c.250 others(30): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHACTR1_chr6_12711767_13292837 | 12897698 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01175.hp2 HG01192.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0063a0001c0001t0001g0090a0001c0001t0001g0097others(12): Show | 15 | 108 | 0.1389 | 9 | c.250 others(30): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHACTR1_chr6_12711767_13292837 | 12955192 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03130.hp1 HG03453.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0004a0001c0001t0001g0049a0001c0001t0001g0050others(6): Show | 9 | 108 | 0.0833 | 9 | c.251 others(28): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHACTR1_chr6_12711767_13292837 | 13190198 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01109.hp1 HG02109.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0014a0001c0001t0001g0021others(10): Show | 13 | 108 | 0.1204 | 9 | c.664 others(26): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHACTR1_chr6_12711767_13292837 | 13195779 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02258.hp2 HG02965.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0061others(2): Show | 5 | 108 | 0.0463 | 9 | c.665 others(28): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHACTR1_chr6_12711767_13292837 | 13231086 | A | AGGAAGGA others(2): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01433.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0059a0001c0001t0003g0041a0001c0001t0003g0103 | 3 | 108 | 0.0278 | 9 | c.139 others(26): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHACTR2_chr6_143672965_143836185 | 143802647 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01167.hp1 HG01256.hp1 others(41): Show |
a0001a0002a0009 | a0001c0001a0001c0003a0001c0019others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(34): Show | a0001c0001t0001g0184a0001c0001t0001g0201a0001c0001t0001g0231others(41): Show | 44 | 310 | 0.1419 | 9 | c.184 others(28): Show |
PHACTR2 | ENSG00000112419.15 | transcript | ENST00000440869.7 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHACTR3_chr20_59599540_59852711 | 59635148 | T | TCTTTCTT others(2): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01255.hp2 HG03098.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0001t0016a0001c0003t0007 | a0001c0001t0004g0148a0001c0001t0016g0068a0001c0003t0007g0087 | 3 | 250 | 0.0120 | 9 | c.118 others(28): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
PHACTR4_chr1_28364740_28505364 | 28366502 | C | CTTTCTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01884.hp2 others(15): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0004a0001c0003t0006a0001c0003t0019others(3): Show | a0001c0003t0004g0222a0001c0003t0004g0223a0001c0003t0004g0224others(15): Show | 18 | 228 | 0.0790 | 9 | c.-33 others(20): Show |
PHACTR4 | ENSG00000204138.13 | transcript | ENST00000373839.8 | protein_coding | 3237 | chr1 | TogoVar | ||||||
PHACTR4_chr1_28364740_28505364 | 28370611 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01243.hp2 HG01257.hp2 others(5): Show |
a0001a0002 | a0001c0003a0001c0005a0001c0006others(1): Show | a0001c0003t0004a0001c0003t0010a0001c0003t0018others(3): Show | a0001c0003t0004g0119a0001c0003t0010g0121a0001c0003t0018g0122others(5): Show | 8 | 228 | 0.0351 | 9 | c.-39 others(24): Show |
PHACTR4 | ENSG00000204138.13 | transcript | ENST00000373839.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PHACTR4_chr1_28364740_28505364 | 28378198 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01884.hp2 HG02559.hp2 others(11): Show |
a0001a0002a0003 | a0001c0003a0002c0002a0003c0011 | a0001c0003t0004a0001c0003t0006a0001c0003t0019others(3): Show | a0001c0003t0004g0224a0001c0003t0004g0225a0001c0003t0004g0226others(11): Show | 14 | 228 | 0.0614 | 9 | c.-39 others(26): Show |
PHACTR4 | ENSG00000204138.13 | transcript | ENST00000373839.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PHAX_chr5_126595947_126632252 | 126609095 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01069.hp2 HG02615.hp1 HG02683.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0010a0001c0001t0015a0001c0001t0024others(4): Show | a0001c0001t0010g0044a0001c0001t0010g0045a0001c0001t0010g0046others(8): Show | 11 | 382 | 0.0288 | 9 | c.831 others(24): Show |
PHAX | ENSG00000164902.14 | transcript | ENST00000297540.5 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PHEX_chrX_22027325_22256310 | 22055174 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00738.hp1 HG01256.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(8): Show | a0001c0001t0001g0136a0001c0001t0001g0137a0001c0001t0001g0138others(12): Show | 15 | 231 | 0.0649 | 9 | c.349 others(26): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PHEX_chrX_22027325_22256310 | 22056763 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG01891.hp2 HG01981.hp1 |
a0001 | a0001c0001 | a0001c0001t0033a0001c0001t0066 | a0001c0001t0033g0157a0001c0001t0066g0131 | 2 | 231 | 0.0087 | 9 | c.349 others(26): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PHEX_chrX_22027325_22256310 | 22092749 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0004 | a0001c0004t0157 | a0001c0004t0157g0008 | 1 | 231 | 0.0043 | 9 | c.733 others(26): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PHEX_chrX_22027325_22256310 | 22098795 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03130.hp1 HG03486.hp2 others(2): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0025a0001c0001t0049a0001c0001t0102others(2): Show | a0001c0001t0025g0165a0001c0001t0049g0148a0001c0001t0102g0039others(2): Show | 5 | 231 | 0.0217 | 9 | c.934 others(24): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PHEX_chrX_22027325_22256310 | 22106814 | T | TTCATCAC others(2): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02717.hp1 HG02922.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0126a0001c0001t0141a0001c0001t0152others(1): Show | a0001c0001t0126g0006a0001c0001t0141g0031a0001c0001t0152g0018others(1): Show | 4 | 231 | 0.0173 | 9 | c.108 others(28): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PHEX_chrX_22027325_22256310 | 22209709 | T | TTCCCTCT others(2): Show |
intron_variant | MODIFIER | NA18998.hp2 NA19058.hp1 |
a0001 | a0001c0001 | a0001c0001t0093a0001c0001t0096 | a0001c0001t0093g0044a0001c0001t0096g0068 | 2 | 231 | 0.0087 | 9 | c.164 others(28): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PHEX_chrX_22027325_22256310 | 22209744 | G | GCTCCCTC others(2): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0165 | a0001c0001t0165g0050 | 1 | 231 | 0.0043 | 9 | c.164 others(28): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PHEX_chrX_22027325_22256310 | 22232596 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0004 | a0001c0004t0145 | a0001c0004t0145g0010 | 1 | 231 | 0.0043 | 9 | c.207 others(28): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PHEX_chrX_22027325_22256310 | 22249451 | A | ATATATAT others(2): Show |
3_prime_UTR_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0148 | 1 | 231 | 0.0043 | 9 | c.*14 others(20): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 22/22 | 1499 | chrX | TogoVar | |||||
PHEX_chrX_22027325_22256310 | 22249453 | A | ATATATAT others(2): Show |
3_prime_UTR_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0166 | 1 | 231 | 0.0043 | 9 | c.*15 others(20): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 22/22 | 1501 | chrX | TogoVar | |||||
PHEX_chrX_22027325_22256310 | 22249455 | A | AAATATAT others(2): Show |
3_prime_UTR_variant | MODIFIER | HG03579.hp1 HG03831.hp1 NA18939.hp2 |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0031a0001c0001t0078 | a0001c0001t0025g0165a0001c0001t0031g0126a0001c0001t0078g0201 | 3 | 231 | 0.0130 | 9 | c.*15 others(20): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 22/22 | 1504 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
PHF12_chr17_28900250_28956518 | 28914671 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02293.hp1 HG02723.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0048a0001c0001t0001g0054others(2): Show | 6 | 232 | 0.0259 | 9 | c.113 others(26): Show |
PHF12 | ENSG00000109118.14 | transcript | ENST00000332830.9 | protein_coding | 7/14 | chr17 | TogoVar | ||||||
PHF20_chr20_35767015_35955370 | 35805354 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02258.hp2 HG03017.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0003a0002c0002t0008 | a0001c0001t0004g0125a0002c0002t0003g0115a0002c0002t0003g0118others(2): Show | 5 | 206 | 0.0243 | 9 | c.83+ others(24): Show |
PHF20 | ENSG00000025293.17 | transcript | ENST00000374012.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PHF20_chr20_35767015_35955370 | 35850296 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01433.hp1 HG02004.hp1 others(9): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0116a0002c0002t0003g0128a0002c0002t0003g0129others(9): Show | 12 | 206 | 0.0583 | 9 | c.340 others(26): Show |
PHF20 | ENSG00000025293.17 | transcript | ENST00000374012.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PHF20_chr20_35767015_35955370 | 35850300 | T | TTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG01081.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010a0001c0001t0019 | a0001c0001t0004g0099a0001c0001t0004g0100a0001c0001t0004g0102others(11): Show | 14 | 206 | 0.0680 | 9 | c.340 others(26): Show |
PHF20 | ENSG00000025293.17 | transcript | ENST00000374012.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PHF20_chr20_35767015_35955370 | 35881070 | T | TTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02723.hp1 HG02976.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0021 | a0001c0001t0002g0188a0001c0001t0002g0190a0001c0001t0002g0191others(7): Show | 10 | 206 | 0.0485 | 9 | c.128 others(28): Show |
PHF20 | ENSG00000025293.17 | transcript | ENST00000374012.8 | protein_coding | 9/17 | chr20 | TogoVar | ||||||
PHF21A_chr11_45924319_46126454 | 45958396 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02132.hp2 HG02293.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0014others(6): Show | a0001c0001t0002g0074a0001c0001t0003g0237a0001c0001t0014g0109others(6): Show | 9 | 280 | 0.0321 | 9 | c.997 others(26): Show |
PHF21A | ENSG00000135365.17 | transcript | ENST00000676320.1 | protein_coding | 10/18 | chr11 | TogoVar | ||||||
PHF21A_chr11_45924319_46126454 | 45958419 | A | AAAAAAAT others(2): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01070.hp2 HG01071.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0021others(2): Show | a0001c0001t0001g0193a0001c0001t0001g0211a0001c0001t0006g0195others(5): Show | 8 | 280 | 0.0286 | 9 | c.997 others(26): Show |
PHF21A | ENSG00000135365.17 | transcript | ENST00000676320.1 | protein_coding | 10/18 | chr11 | TogoVar | ||||||
PHF21A_chr11_45924319_46126454 | 45964198 | C | CATAATAA others(2): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02818.hp2 HG03471.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0098a0001c0001t0004g0099a0001c0001t0004g0100others(1): Show | 4 | 280 | 0.0143 | 9 | c.996 others(26): Show |
PHF21A | ENSG00000135365.17 | transcript | ENST00000676320.1 | protein_coding | 10/18 | chr11 | TogoVar |