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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PER3_chr1_7779291_7850177 | 7806812 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0152 | 1 | 42 | 0.0238 | 25 | c.113 others(44): Show |
PER3 | ENSG00000049246.15 | transcript | ENST00000377532.8 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PER3_chr1_7779291_7850177 | 7806812 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0134 | 1 | 42 | 0.0238 | 25 | c.113 others(44): Show |
PER3 | ENSG00000049246.15 | transcript | ENST00000377532.8 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PER3_chr1_7779291_7850177 | 7815991 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0103 | 1 | 39 | 0.0256 | 25 | c.152 others(44): Show |
PER3 | ENSG00000049246.15 | transcript | ENST00000377532.8 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PERM1_chr1_970198_987093 | 984611 | C | CTTTATTT others(18): Show |
upstream_gene_variant | MODIFIER | HG01993.hp2 HG04199.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0025 a0002c0002t0002g0197 |
2 | 40 | 0.0500 | 25 | c.-26 others(36): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2519 | chr1 | TogoVar | |||||||
PERM1_chr1_970198_987093 | 984611 | C | CTTTATTT others(18): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG02293.hp1 NA18957.hp2 others(2): Show |
a0002a0003a0019 | a0002c0002a0003c0003a0019c0024 | a0002c0002t0002a0003c0003t0003a0019c0024t0002 | a0002c0002t0002g0002 a0002c0002t0002g0204 a0003c0003t0003g0020 others(1): Show |
5 | 43 | 0.1163 | 25 | c.-26 others(36): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2519 | chr1 | TogoVar | |||||||
PERM1_chr1_970198_987093 | 984611 | C | CTTTATTT others(18): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00673.hp2 HG01074.hp1 others(5): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0002c0002t0002a0004c0004t0002 | a0001c0001t0001g0148 a0002c0002t0002g0002 a0002c0002t0002g0008 others(3): Show |
8 | 46 | 0.1739 | 25 | c.-26 others(36): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2519 | chr1 | TogoVar | |||||||
PERM1_chr1_970198_987093 | 984611 | C | CTTTATTT others(18): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(112): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0020a0001c0042others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0024 others(69): Show |
115 | 153 | 0.7516 | 25 | c.-26 others(36): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2519 | chr1 | TogoVar | |||||||
PERM1_chr1_970198_987093 | 984611 | C | CTTTCTTT others(18): Show |
upstream_gene_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 39 | 0.0256 | 25 | c.-26 others(36): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2519 | chr1 | TogoVar | |||||||
PET117_chr20_18132863_18148169 | 18144966 | A | ACCTGCCT others(18): Show |
downstream_gene_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 422 | 0.0024 | 25 | c.*26 others(36): Show |
PET117 | ENSG00000232838.4 | transcript | ENST00000432901.4 | protein_coding | 1798 | chr20 | TogoVar | |||||||
PEX1_chr7_92482025_92533520 | 92516008 | A | AAAGAGAA others(18): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00609.hp2 NA18956.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0002t0002g0211 |
3 | 267 | 0.0112 | 25 | c.123 others(44): Show |
PEX1 | ENSG00000127980.16 | transcript | ENST00000248633.9 | protein_coding | 5/23 | chr7 | TogoVar | |||||||
PEX1_chr7_92482025_92533520 | 92516055 | A | AGAGAAGA others(18): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01192.hp2 HG02602.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0189 a0001c0002t0002g0218 a0001c0002t0002g0219 |
3 | 144 | 0.0208 | 25 | c.123 others(44): Show |
PEX1 | ENSG00000127980.16 | transcript | ENST00000248633.9 | protein_coding | 5/23 | chr7 | TogoVar | |||||||
PEX1_chr7_92482025_92533520 | 92516055 | A | AGAGAAGA others(18): Show |
intron_variant | MODIFIER | HG00544.hp2 NA20805.hp2 |
a0001a0014 | a0001c0002a0014c0016 | a0001c0002t0002a0014c0016t0002 | a0001c0002t0002g0216 a0014c0016t0002g0208 |
2 | 143 | 0.0140 | 25 | c.123 others(44): Show |
PEX1 | ENSG00000127980.16 | transcript | ENST00000248633.9 | protein_coding | 5/23 | chr7 | TogoVar | |||||||
PEX3_chr6_143445805_143495616 | 143455171 | A | ATTTTCTT others(18): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02572.hp1 HG02970.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0078 a0001c0001t0001g0236 others(1): Show |
6 | 113 | 0.0531 | 25 | c.74- others(40): Show |
PEX3 | ENSG00000034693.15 | transcript | ENST00000367591.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PEX5_chr12_7184686_7216459 | 7196753 | T | TATAATGT others(18): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG01255.hp2 others(17): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0002g0020 a0001c0001t0002g0041 a0001c0001t0002g0045 others(12): Show |
20 | 352 | 0.0568 | 25 | c.449 others(42): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PEX5_chr12_7184686_7216459 | 7197023 | G | GTAATCAT others(18): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0282 | 1 | 334 | 0.0030 | 25 | c.449 others(42): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PEX5_chr12_7184686_7216459 | 7197242 | T | TTATGTCA others(18): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01109.hp2 HG01891.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0017a0002c0002t0005 | a0001c0001t0004g0014 a0001c0001t0004g0209 a0001c0001t0004g0270 others(8): Show |
13 | 319 | 0.0408 | 25 | c.449 others(42): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3084713 | A | AGGAGAGT others(18): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0107 | 1 | 400 | 0.0025 | 25 | c.186 others(42): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3084774 | A | AGCCCCTC others(18): Show |
intron_variant | MODIFIER | HG01978.hp1 HG02071.hp2 NA19084.hp2 |
a0001 | a0001c0001a0001c0003a0001c0009 | a0001c0001t0003a0001c0003t0012a0001c0009t0001 | a0001c0001t0003g0317 a0001c0003t0012g0021 a0001c0009t0001g0044 |
3 | 399 | 0.0075 | 25 | c.186 others(42): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | chr10 | TogoVar | |||||||
PFKP_chr10_3062548_3141802 | 3084854 | C | CCCAGCAC others(18): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00438.hp1 others(71): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0002a0001c0003others(19): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(29): Show | a0001c0001t0002g0309 a0001c0001t0002g0337 a0001c0001t0002g0338 others(70): Show |
74 | 391 | 0.1893 | 25 | c.186 others(42): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3085072 | C | CCCAGCAC others(18): Show |
intron_variant | MODIFIER | HG00639.hp2 HG03195.hp2 HG03471.hp1 |
a0001 | a0001c0004a0001c0008 | a0001c0004t0004a0001c0008t0005 | a0001c0004t0004g0016 a0001c0004t0004g0017 a0001c0008t0005g0400 |
3 | 387 | 0.0078 | 25 | c.186 others(42): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3085232 | C | CCACTCCA others(18): Show |
intron_variant | MODIFIER | HG02602.hp2 HG04199.hp1 |
a0001a0002 | a0001c0005a0002c0013 | a0001c0005t0002a0002c0013t0004 | a0001c0005t0002g0005 a0002c0013t0004g0006 |
2 | 381 | 0.0052 | 25 | c.186 others(42): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3085401 | T | TCCCCCAA others(18): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0146 | 1 | 399 | 0.0025 | 25 | c.186 others(42): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3085554 | T | TCCACTCT others(18): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0256 | 1 | 328 | 0.0030 | 25 | c.186 others(42): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3085725 | C | CACTCTCC others(18): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0003 | a0001c0003t0011 | a0001c0003t0011g0285 | 1 | 371 | 0.0027 | 25 | c.186 others(42): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3085811 | C | CTGTCCTC others(18): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0094 | 1 | 312 | 0.0032 | 25 | c.186 others(42): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | chr10 | TogoVar | |||||||
PGAP1_chr2_196828004_196931707 | 196927409 | T | TAAAAAAA others(18): Show |
upstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0160 | 1 | 96 | 0.0104 | 25 | c.-81 others(34): Show |
PGAP1 | ENSG00000197121.15 | transcript | ENST00000354764.9 | protein_coding | 703 | chr2 | TogoVar | |||||||
PGAP6_chr16_365788_386978 | 378520 | A | ATCGCCAC others(18): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0069 | 1 | 367 | 0.0027 | 25 | c.122 others(40): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 1/12 | chr16 | TogoVar | |||||||
PGLYRP2_chr19_15463645_15484501 | 15477721 | T | TAAAATTA others(18): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02273.hp2 NA19011.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0023 | a0001c0001t0001a0002c0023t0001 | a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 others(1): Show |
4 | 129 | 0.0310 | 25 | c.62- others(40): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
PGLYRP3_chr1_153292116_153317952 | 153297581 | G | GAAAGAAA others(18): Show |
3_prime_UTR_variant | MODIFIER | HG01891.hp2 | a0002 | a0002c0013 | a0002c0013t0035 | a0002c0013t0035g0179 | 1 | 338 | 0.0030 | 25 | c.*37 others(34): Show |
PGLYRP3 | ENSG00000159527.4 | transcript | ENST00000683862.1 | protein_coding | 8/8 | 374 | chr1 | TogoVar | ||||||
PGM2L1_chr11_74325316_74403433 | 74355553 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0004 | a0001c0004t0015 | a0001c0004t0015g0094 | 1 | 168 | 0.0060 | 25 | c.556 others(42): Show |
PGM2L1 | ENSG00000165434.8 | transcript | ENST00000298198.5 | protein_coding | 5/13 | chr11 | TogoVar | |||||||
PGM5_chr9_68351611_68536061 | 68376834 | T | TTTCTCTT others(18): Show |
intron_variant | MODIFIER | NA18992.hp2 NA19086.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0006 a0001c0003t0001g0019 |
2 | 194 | 0.0103 | 25 | c.262 others(42): Show |
PGM5 | ENSG00000154330.13 | transcript | ENST00000396396.6 | protein_coding | 1/10 | chr9 | TogoVar | |||||||
PGPEP1L_chr15_98963229_99012792 | 98978726 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0366 | 1 | 203 | 0.0049 | 25 | c.-14 others(44): Show |
PGPEP1L | ENSG00000183571.11 | transcript | ENST00000535714.2 | protein_coding | 2/4 | chr15 | TogoVar | |||||||
PGPEP1L_chr15_98963229_99012792 | 98978726 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0255 | 1 | 203 | 0.0049 | 25 | c.-14 others(44): Show |
PGPEP1L | ENSG00000183571.11 | transcript | ENST00000535714.2 | protein_coding | 2/4 | chr15 | TogoVar | |||||||
PGPEP1_chr19_18335598_18374950 | 18338732 | T | TAAAAAAA others(18): Show |
upstream_gene_variant | MODIFIER | HG00642.hp2 HG01109.hp1 HG01256.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0034a0001c0001t0035others(3): Show | a0001c0001t0023g0058 a0001c0001t0023g0059 a0001c0001t0034g0283 others(4): Show |
7 | 98 | 0.0714 | 25 | c.-19 others(36): Show |
PGPEP1 | ENSG00000130517.14 | transcript | ENST00000269919.11 | protein_coding | 1865 | chr19 | TogoVar | |||||||
PHACTR1_chr6_12711767_13292837 | 12830129 | G | GAAAGAAA others(18): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02818.hp2 HG03098.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008 | a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0051 others(2): Show |
5 | 86 | 0.0581 | 25 | c.250 others(44): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 13177172 | T | TAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0095 | 1 | 23 | 0.0435 | 25 | c.497 others(42): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 13195757 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0073 | 1 | 47 | 0.0213 | 25 | c.665 others(44): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR2_chr6_143672965_143836185 | 143779899 | T | TTTATATT others(18): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0003 | a0001c0003t0064 | a0001c0003t0064g0251 | 1 | 65 | 0.0154 | 25 | c.164 others(44): Show |
PHACTR2 | ENSG00000112419.15 | transcript | ENST00000440869.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR2_chr6_143672965_143836185 | 143827178 | A | ATATATAT others(18): Show |
3_prime_UTR_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0052 | 1 | 308 | 0.0032 | 25 | c.*35 others(36): Show |
PHACTR2 | ENSG00000112419.15 | transcript | ENST00000440869.7 | protein_coding | 13/13 | 3509 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHACTR3_chr20_59599540_59852711 | 59622981 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00741.hp2 HG01175.hp2 others(9): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0150 a0001c0001t0001g0164 a0001c0001t0001g0177 others(9): Show |
12 | 41 | 0.2927 | 25 | c.118 others(44): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59668870 | T | TTTTTATT others(18): Show |
intron_variant | MODIFIER | NA18962.hp2 NA18988.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0058 a0001c0001t0003g0135 |
2 | 89 | 0.0225 | 25 | c.118 others(44): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHEX_chrX_22027325_22256310 | 22224947 | A | AATTATCA others(18): Show |
intron_variant | MODIFIER | HG00609.hp1 HG03654.hp1 HG04184.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0015 | a0001c0001t0001g0210 a0001c0001t0001g0230 a0001c0001t0002g0077 others(1): Show |
4 | 6 | 0.6667 | 25 | c.190 others(44): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PHEX_chrX_22027325_22256310 | 22224947 | A | AATTATCA others(18): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02486.hp1 HG02559.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0024a0001c0001t0025others(4): Show | a0001c0001t0003g0004 a0001c0001t0024g0002 a0001c0001t0024g0071 others(6): Show |
9 | 11 | 0.8182 | 25 | c.190 others(44): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PHEX_chrX_22027325_22256310 | 22249451 | A | ATATATAT others(18): Show |
3_prime_UTR_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0004 | a0001c0004t0076 | a0001c0004t0076g0010 | 1 | 225 | 0.0044 | 25 | c.*14 others(36): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 22/22 | 1499 | chrX | TogoVar | ||||||
PHEX_chrX_22027325_22256310 | 22249455 | A | AAATATAT others(18): Show |
3_prime_UTR_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0048 | 1 | 70 | 0.0143 | 25 | c.*15 others(36): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 22/22 | 1504 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PHF12_chr17_28900250_28956518 | 28923651 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 200 | 0.0050 | 25 | c.715 others(40): Show |
PHF12 | ENSG00000109118.14 | transcript | ENST00000332830.9 | protein_coding | 4/14 | chr17 | TogoVar | |||||||
PHF21A_chr11_45924319_46126454 | 45958419 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0004 | 1 | 100 | 0.0100 | 25 | c.997 others(42): Show |
PHF21A | ENSG00000135365.17 | transcript | ENST00000676320.1 | protein_coding | 10/18 | chr11 | TogoVar | |||||||
PHF21A_chr11_45924319_46126454 | 45958419 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0134 | 1 | 100 | 0.0100 | 25 | c.997 others(42): Show |
PHF21A | ENSG00000135365.17 | transcript | ENST00000676320.1 | protein_coding | 10/18 | chr11 | TogoVar | |||||||
PHF21A_chr11_45924319_46126454 | 45971890 | C | CTTTCTTT others(18): Show |
intron_variant | MODIFIER | HG00733.hp1 HG00735.hp1 HG01943.hp1 others(26): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(8): Show | a0001c0001t0001g0206 a0001c0001t0002g0057 a0001c0001t0002g0064 others(26): Show |
29 | 34 | 0.8529 | 25 | c.361 others(40): Show |
PHF21A | ENSG00000135365.17 | transcript | ENST00000676320.1 | protein_coding | 7/18 | chr11 | TogoVar | |||||||
PHF21A_chr11_45924319_46126454 | 45975377 | T | TAAAATAA others(18): Show |
intron_variant | MODIFIER | HG02647.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0064 | a0001c0001t0023g0247 a0001c0001t0064g0246 |
2 | 38 | 0.0526 | 25 | c.361 others(42): Show |
PHF21A | ENSG00000135365.17 | transcript | ENST00000676320.1 | protein_coding | 7/18 | chr11 | TogoVar |