view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PHLPP2_chr16_71639924_71729701 | 71719964 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02735.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0043a0001c0001t0001g0044 | 3 | 324 | 0.0093 | 18 | c.-7+ others(33): Show |
PHLPP2 | ENSG00000040199.18 | transcript | ENST00000568954.5 | protein_coding | 1/18 | chr16 | TogoVar | |||||||
PHOX2B_chr4_41739082_41753725 | 41742625 | C | CTTTTTTT others(11): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 HG01123.hp1 HG01517.hp2 others(3): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0003a0001c0006t0003 | a0001c0001t0003g0004a0001c0001t0003g0030a0001c0006t0003g0019 | 6 | 382 | 0.0157 | 18 | c.*31 others(29): Show |
PHOX2B | ENSG00000109132.7 | transcript | ENST00000226382.4 | protein_coding | 1456 | chr4 | TogoVar | |||||||
PHRF1_chr11_571470_617222 | 579220 | T | TCCCCCAG others(11): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02818.hp2 HG03209.hp1 |
a0009 | a0009c0012 | a0009c0012t0003 | a0009c0012t0003g0067a0009c0012t0003g0082a0009c0012t0003g0176 | 3 | 279 | 0.0108 | 18 | c.-21 others(35): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 579254 | C | CTCCCCCC others(11): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00639.hp2 others(66): Show |
a0001a0003a0004others(5): Show | a0001c0003a0001c0006a0003c0004others(7): Show | a0001c0003t0002a0001c0003t0005a0001c0003t0012others(11): Show | a0001c0003t0002g0015a0001c0003t0002g0017a0001c0003t0002g0020others(65): Show | 69 | 279 | 0.2473 | 18 | c.-21 others(35): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 613712 | T | TCTCTCTC others(11): Show |
downstream_gene_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 279 | 0.0036 | 18 | c.*19 others(29): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 1491 | chr11 | TogoVar | |||||||
PHTF1_chr1_113691831_113764486 | 113701826 | T | TAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02293.hp1 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161a0001c0001t0001g0235a0001c0001t0001g0240 | 3 | 330 | 0.0091 | 18 | c.189 others(35): Show |
PHTF1 | ENSG00000116793.16 | transcript | ENST00000369604.6 | protein_coding | 15/18 | chr1 | TogoVar | |||||||
PHTF2_chr7_77793773_77962225 | 77925495 | G | GTTTTTTT others(11): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 314 | 0.0032 | 18 | c.101 others(37): Show |
PHTF2 | ENSG00000006576.17 | transcript | ENST00000422959.8 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PHTF2_chr7_77793773_77962225 | 77954612 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0072 | 1 | 314 | 0.0032 | 18 | c.223 others(35): Show |
PHTF2 | ENSG00000006576.17 | transcript | ENST00000422959.8 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PHTF2_chr7_77793773_77962225 | 77954612 | G | GTGTGTAT others(11): Show |
intron_variant | MODIFIER | HG00733.hp1 HG02572.hp1 NA20129.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0002a0001c0004t0007 | a0001c0002t0002g0061a0001c0002t0002g0097a0001c0004t0007g0069 | 3 | 314 | 0.0096 | 18 | c.223 others(35): Show |
PHTF2 | ENSG00000006576.17 | transcript | ENST00000422959.8 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PHYHIPL_chr10_59171643_59252770 | 59173921 | G | GTTTTTTT others(11): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063a0001c0001t0001g0071 | 2 | 202 | 0.0099 | 18 | c.-29 others(29): Show |
PHYHIPL | ENSG00000165443.12 | transcript | ENST00000373880.9 | protein_coding | 2721 | chr10 | TogoVar | |||||||
PHYHIPL_chr10_59171643_59252770 | 59224497 | A | AAACAAAA others(11): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0172 | 1 | 202 | 0.0050 | 18 | c.107 others(35): Show |
PHYHIPL | ENSG00000165443.12 | transcript | ENST00000373880.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PHYHIPL_chr10_59171643_59252770 | 59227975 | G | GAGAGATA others(11): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 202 | 0.0050 | 18 | c.107 others(35): Show |
PHYHIPL | ENSG00000165443.12 | transcript | ENST00000373880.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PHYHIPL_chr10_59171643_59252770 | 59227975 | G | GATATATA others(11): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 202 | 0.0050 | 18 | c.107 others(35): Show |
PHYHIPL | ENSG00000165443.12 | transcript | ENST00000373880.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PHYH_chr10_13272799_13305064 | 13298718 | C | CACTACTA others(11): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02257.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0161a0001c0002t0003g0163 | 2 | 438 | 0.0046 | 18 | c.76- others(31): Show |
PHYH | ENSG00000107537.14 | transcript | ENST00000263038.9 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
PHYKPL_chr5_178203471_178237802 | 178203504 | T | TAAAAAAA others(11): Show |
downstream_gene_variant | MODIFIER | HG01069.hp2 HG01099.hp1 HG01516.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0008a0001c0001t0001g0023a0001c0001t0001g0093others(9): Show | 12 | 440 | 0.0273 | 18 | c.*54 others(29): Show |
PHYKPL | ENSG00000175309.15 | transcript | ENST00000308158.10 | protein_coding | 4966 | chr5 | TogoVar | |||||||
PI4K2A_chr10_97635671_97681434 | 97642865 | T | TTCTTTCT others(11): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0306 | 1 | 350 | 0.0029 | 18 | c.435 others(35): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PI4K2A_chr10_97635671_97681434 | 97678880 | G | GGTGTGTG others(11): Show |
downstream_gene_variant | MODIFIER | HG01175.hp1 HG03239.hp1 HG03579.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0006a0001c0003t0003 | a0001c0002t0006g0064a0001c0003t0003g0006a0001c0003t0003g0105 | 3 | 350 | 0.0086 | 18 | c.*51 others(29): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 2447 | chr10 | TogoVar | |||||||
PI4KA_chr22_20702691_20863811 | 20770579 | G | GACACACA others(11): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0118 | 1 | 334 | 0.0030 | 18 | c.232 others(37): Show |
PI4KA | ENSG00000241973.11 | transcript | ENST00000255882.11 | protein_coding | 19/54 | chr22 | TogoVar | |||||||
PI4KA_chr22_20702691_20863811 | 20817734 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0155 | 1 | 334 | 0.0030 | 18 | c.856 others(33): Show |
PI4KA | ENSG00000241973.11 | transcript | ENST00000255882.11 | protein_coding | 7/54 | chr22 | TogoVar | |||||||
PIAS1_chr15_68049315_68198847 | 68088176 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG00642.hp2 others(22): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0232a0001c0001t0002g0079a0001c0001t0002g0092others(22): Show | 25 | 260 | 0.0962 | 18 | c.469 others(35): Show |
PIAS1 | ENSG00000033800.14 | transcript | ENST00000249636.11 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PIAS1_chr15_68049315_68198847 | 68088176 | G | GTATGTAT others(11): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0006 | a0001c0006t0015 | a0001c0006t0015g0009 | 1 | 260 | 0.0039 | 18 | c.469 others(35): Show |
PIAS1 | ENSG00000033800.14 | transcript | ENST00000249636.11 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PIAS1_chr15_68049315_68198847 | 68088176 | G | GTGTATAT others(11): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01099.hp2 HG01261.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0193a0001c0001t0001g0194a0001c0001t0001g0196others(18): Show | 21 | 260 | 0.0808 | 18 | c.469 others(35): Show |
PIAS1 | ENSG00000033800.14 | transcript | ENST00000249636.11 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PIAS1_chr15_68049315_68198847 | 68088176 | G | GTGTGTAT others(11): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0239 | 1 | 260 | 0.0039 | 18 | c.469 others(35): Show |
PIAS1 | ENSG00000033800.14 | transcript | ENST00000249636.11 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PIAS1_chr15_68049315_68198847 | 68151707 | C | CACACACA others(11): Show |
intron_variant | MODIFIER | HG01978.hp1 HG03098.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0004a0001c0005t0023 | a0001c0001t0004g0083a0001c0005t0023g0163 | 2 | 260 | 0.0077 | 18 | c.829 others(35): Show |
PIAS1 | ENSG00000033800.14 | transcript | ENST00000249636.11 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PIAS1_chr15_68049315_68198847 | 68179564 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02083.hp1 HG02523.hp1 others(2): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(2): Show | a0001c0001t0001g0067a0001c0001t0003g0158a0001c0001t0009g0087others(2): Show | 5 | 260 | 0.0192 | 18 | c.148 others(37): Show |
PIAS1 | ENSG00000033800.14 | transcript | ENST00000249636.11 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PIAS1_chr15_68049315_68198847 | 68182490 | C | CGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG00741.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0021others(2): Show | a0001c0001t0001g0037a0001c0001t0001g0047a0001c0001t0001g0053others(5): Show | 8 | 260 | 0.0308 | 18 | c.162 others(37): Show |
PIAS1 | ENSG00000033800.14 | transcript | ENST00000249636.11 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PIAS2_chr18_46798218_46922507 | 46800647 | T | TATATACA others(11): Show |
downstream_gene_variant | MODIFIER | HG02717.hp1 HG03041.hp2 HG03098.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0055a0001c0001t0082others(2): Show | a0001c0001t0017g0115a0001c0001t0017g0122a0001c0001t0055g0271others(3): Show | 6 | 322 | 0.0186 | 18 | c.*11 others(31): Show |
PIAS2 | ENSG00000078043.16 | transcript | ENST00000585916.6 | protein_coding | 2570 | chr18 | TogoVar | |||||||
PIAS2_chr18_46798218_46922507 | 46807355 | T | TTATATAT others(11): Show |
3_prime_UTR_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0244 | 1 | 322 | 0.0031 | 18 | c.*50 others(29): Show |
PIAS2 | ENSG00000078043.16 | transcript | ENST00000585916.6 | protein_coding | 14/14 | 5077 | chr18 | TogoVar | ||||||
PIAS2_chr18_46798218_46922507 | 46807383 | A | ATATATAT others(11): Show |
3_prime_UTR_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0009 | 1 | 322 | 0.0031 | 18 | c.*50 others(29): Show |
PIAS2 | ENSG00000078043.16 | transcript | ENST00000585916.6 | protein_coding | 14/14 | 5049 | chr18 | TogoVar | ||||||
PIAS2_chr18_46798218_46922507 | 46807383 | A | ATATATAT others(11): Show |
3_prime_UTR_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0162 | a0001c0001t0162g0050 | 1 | 322 | 0.0031 | 18 | c.*50 others(29): Show |
PIAS2 | ENSG00000078043.16 | transcript | ENST00000585916.6 | protein_coding | 14/14 | 5049 | chr18 | TogoVar | ||||||
PIBF1_chr13_72777133_73021461 | 72790421 | T | TCACACAC others(11): Show |
intron_variant | MODIFIER | HG01358.hp1 NA18968.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0115a0001c0001t0002g0114 | 2 | 346 | 0.0058 | 18 | c.253 others(35): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PIBF1_chr13_72777133_73021461 | 72844728 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | NA18964.hp2 NA18969.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179a0001c0001t0001g0181 | 2 | 346 | 0.0058 | 18 | c.122 others(37): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PIBF1_chr13_72777133_73021461 | 72844789 | A | ACACACAC others(11): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0218a0002c0002t0002g0233 | 2 | 346 | 0.0058 | 18 | c.122 others(37): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PIBF1_chr13_72777133_73021461 | 72892785 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 NA18969.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0175others(1): Show | 4 | 346 | 0.0116 | 18 | c.132 others(35): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PIBF1_chr13_72777133_73021461 | 72902006 | A | ATGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00673.hp1 HG00735.hp1 HG00735.hp2 others(27): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0002c0012others(1): Show | a0001c0001t0001a0002c0002t0002a0002c0012t0002others(1): Show | a0001c0001t0001g0236a0001c0001t0001g0247a0001c0001t0001g0253others(27): Show | 30 | 346 | 0.0867 | 18 | c.148 others(37): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PIBF1_chr13_72777133_73021461 | 72904433 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01516.hp2 HG02976.hp2 HG03654.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0002 | a0001c0001t0001g0255a0001c0001t0001g0291a0001c0001t0002g0184others(1): Show | 4 | 346 | 0.0116 | 18 | c.148 others(37): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PIBF1_chr13_72777133_73021461 | 72931717 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0082 | 1 | 346 | 0.0029 | 18 | c.183 others(35): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 14/17 | chr13 | TogoVar | |||||||
PIBF1_chr13_72777133_73021461 | 72931718 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01099.hp1 HG02074.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0265a0001c0001t0001g0268a0001c0001t0001g0273others(8): Show | 11 | 346 | 0.0318 | 18 | c.183 others(35): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PIBF1_chr13_72777133_73021461 | 72987858 | A | ATTTATTT others(11): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0197 | 1 | 346 | 0.0029 | 18 | c.205 others(39): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PIBF1_chr13_72777133_73021461 | 72987858 | A | ATTTATTT others(11): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0093a0001c0001t0002g0094 | 2 | 346 | 0.0058 | 18 | c.205 others(39): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PIBF1_chr13_72777133_73021461 | 73001582 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01192.hp2 HG02040.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0108a0001c0001t0001g0115a0001c0001t0001g0137others(17): Show | 20 | 346 | 0.0578 | 18 | c.222 others(37): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PICALM_chr11_85952175_86074084 | 85986365 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG03491.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078a0001c0001t0001g0084 | 2 | 358 | 0.0056 | 18 | c.140 others(37): Show |
PICALM | ENSG00000073921.18 | transcript | ENST00000393346.8 | protein_coding | 13/19 | chr11 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88726660 | T | TCAGCGGG others(11): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0028 | a0028c0032 | a0028c0032t0001 | a0028c0032t0001g0238 | 1 | 282 | 0.0036 | 18 | c.370 others(33): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 25/50 | chr16 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88728824 | T | TCGACCAA others(11): Show |
intron_variant | MODIFIER | NA19054.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0064 | 1 | 282 | 0.0036 | 18 | c.319 others(37): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 22/50 | chr16 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88760069 | G | GTCCACGC others(11): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01346.hp1 HG01433.hp2 others(9): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0007a0001c0101others(7): Show | a0001c0002t0001a0001c0007t0001a0001c0101t0001others(8): Show | a0001c0002t0001g0052a0001c0007t0001g0079a0001c0101t0001g0119others(9): Show | 12 | 282 | 0.0426 | 18 | c.65- others(35): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 1/50 | chr16 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88760070 | T | TCCACGCC others(11): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00544.hp2 others(134): Show |
a0001a0002a0003others(48): Show | a0001c0001a0001c0002a0001c0007others(76): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0018others(83): Show | a0001c0001t0001g0173a0001c0001t0001g0220a0001c0001t0001g0229others(134): Show | 137 | 282 | 0.4858 | 18 | c.65- others(35): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 1/50 | chr16 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 10693356 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02129.hp1 HG02809.hp2 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0065a0002c0001a0002c0018others(3): Show | a0001c0065t0002a0002c0001t0001a0002c0018t0001others(3): Show | a0001c0065t0002g0003a0002c0001t0001g0043a0002c0001t0001g0117others(4): Show | 7 | 158 | 0.0443 | 18 | c.719 others(37): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 47/55 | chr18 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 10886323 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0008 | a0008c0068 | a0008c0068t0001 | a0008c0068t0001g0153 | 1 | 158 | 0.0063 | 18 | c.330 others(37): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 4/55 | chr18 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 10886487 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG01884.hp2 HG01943.hp1 HG02572.hp1 others(6): Show |
a0001a0002a0004others(2): Show | a0001c0002a0001c0021a0001c0040others(6): Show | a0001c0002t0001a0001c0021t0002a0001c0040t0001others(6): Show | a0001c0002t0001g0096a0001c0021t0002g0088a0001c0040t0001g0106others(6): Show | 9 | 158 | 0.0570 | 18 | c.330 others(37): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 4/55 | chr18 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 10910596 | A | AAAAAAGA others(11): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0057 | 1 | 158 | 0.0063 | 18 | c.329 others(33): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 4/55 | chr18 | TogoVar |