| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PEAK3_chr19_2269631_2287175 | 2281477 | T | TGCCCTCT others(39): Show |
intron_variant | MODIFIER | NA18997.hp1 | a0002 | a0002c0002 | a0002c0002t0026 | a0002c0002t0026g0052 | 1 | 454 | 0.0022 | 46 | c.-4- others(59): Show |
PEAK3 | ENSG00000188305.6 | transcript | ENST00000342063.5 | protein_coding | 1/3 | chr19 | TogoVar | ||||||
| PEBP4_chr8_22708251_22932914 | 22860194 | A | ATATATAT others(39): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01261.hp1 others(3): Show |
a0001a0003a0007others(2): Show | a0001c0001a0003c0003a0007c0009others(2): Show | a0001c0001t0001a0003c0003t0003a0003c0003t0010others(3): Show | a0001c0001t0001g0111a0003c0003t0003g0047a0003c0003t0010g0095others(3): Show | 6 | 278 | 0.0216 | 46 | c.259 others(65): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 3/6 | chr8 | TogoVar | ||||||
| PER3_chr1_7779291_7850177 | 7782299 | C | CCGCGGCA others(39): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 HG02257.hp1 HG02559.hp1 others(3): Show |
a0002a0015a0016 | a0002c0002a0002c0013a0015c0022others(1): Show | a0002c0002t0001a0002c0013t0001a0002c0013t0005others(2): Show | a0002c0002t0001g0202a0002c0013t0001g0088a0002c0013t0005g0091others(3): Show | 6 | 410 | 0.0146 | 46 | c.-23 others(57): Show |
PER3 | ENSG00000049246.15 | transcript | ENST00000377532.8 | protein_coding | 1991 | chr1 | TogoVar | ||||||
| PEX5_chr12_7184686_7216459 | 7197174 | A | ATATATGT others(39): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0008 | a0008c0008 | a0008c0008t0002 | a0008c0008t0002g0252 | 1 | 428 | 0.0023 | 46 | c.449 others(63): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PEX5_chr12_7184686_7216459 | 7197232 | T | TATATAAT others(39): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0260 | 1 | 428 | 0.0023 | 46 | c.449 others(63): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PEX5_chr12_7184686_7216459 | 7197394 | A | ATATGTCA others(39): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00642.hp1 others(34): Show |
a0001a0004a0007 | a0001c0001a0004c0004a0007c0007 | a0001c0001t0003a0001c0001t0013a0004c0004t0003others(1): Show | a0001c0001t0003g0010a0001c0001t0003g0016a0001c0001t0003g0031others(26): Show | 37 | 428 | 0.0865 | 46 | c.449 others(63): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PFKP_chr10_3062548_3141802 | 3106698 | C | CTCACCCC others(39): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0309 | 1 | 402 | 0.0025 | 46 | c.775 others(61): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PGAM5_chr12_132705842_132727734 | 132718508 | T | TGGGGGGT others(39): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0002 | a0002c0003 | a0002c0003t0020 | a0002c0003t0020g0161 | 1 | 394 | 0.0025 | 46 | c.719 others(61): Show |
PGAM5 | ENSG00000247077.8 | transcript | ENST00000498926.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PGAM5_chr12_132705842_132727734 | 132718575 | G | GGTCCTGG others(39): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0203 | 1 | 394 | 0.0025 | 46 | c.719 others(61): Show |
PGAM5 | ENSG00000247077.8 | transcript | ENST00000498926.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PHACTR1_chr6_12711767_13292837 | 13003951 | C | CTATATAT others(39): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0107 | 1 | 108 | 0.0093 | 46 | c.251 others(65): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| PHACTR3_chr20_59599540_59852711 | 59830222 | C | CGTGAGTG others(39): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02683.hp2 NA19030.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0003 | a0001c0001t0001g0100a0001c0001t0001g0176a0001c0005t0003g0035 | 3 | 250 | 0.0120 | 46 | c.132 others(65): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| PHC2_chr1_33318626_33436095 | 33356279 | A | ATATATAT others(39): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0193 | 1 | 370 | 0.0027 | 46 | c.977 others(63): Show |
PHC2 | ENSG00000134686.21 | transcript | ENST00000683057.1 | protein_coding | 7/14 | chr1 | TogoVar | ||||||
| PHF14_chr7_10968872_11174618 | 11122352 | T | TATATATA others(39): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0075 | 1 | 298 | 0.0034 | 46 | c.277 others(67): Show |
PHF14 | ENSG00000106443.17 | transcript | ENST00000634607.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| PHF14_chr7_10968872_11174618 | 11122352 | T | TATATATA others(39): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0074 | 1 | 298 | 0.0034 | 46 | c.277 others(67): Show |
PHF14 | ENSG00000106443.17 | transcript | ENST00000634607.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| PHF14_chr7_10968872_11174618 | 11122352 | T | TATATATA others(39): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0101 | 1 | 298 | 0.0034 | 46 | c.277 others(67): Show |
PHF14 | ENSG00000106443.17 | transcript | ENST00000634607.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| PHLPP1_chr18_62710541_62985433 | 62766076 | A | AAAAAATA others(39): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 192 | 0.0052 | 46 | c.157 others(67): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| PHRF1_chr11_571470_617222 | 585234 | C | CCTTTCCA others(39): Show |
intron_variant | MODIFIER | HG02132.hp1 NA19067.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150a0001c0001t0001g0151 | 2 | 279 | 0.0072 | 46 | c.215 others(63): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PHRF1_chr11_571470_617222 | 585336 | T | TTGAGGTA others(39): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02145.hp1 |
a0018a0025 | a0018c0029a0025c0038 | a0018c0029t0001a0025c0038t0001 | a0018c0029t0001g0217a0025c0038t0001g0181 | 2 | 279 | 0.0072 | 46 | c.215 others(63): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PHRF1_chr11_571470_617222 | 585418 | C | CCTTTCCA others(39): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00673.hp1 HG00741.hp1 others(32): Show |
a0001a0012a0020others(1): Show | a0001c0001a0001c0014a0001c0031others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(6): Show | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0077others(32): Show | 35 | 279 | 0.1255 | 46 | c.215 others(63): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PHRF1_chr11_571470_617222 | 585441 | C | CCTTTCCA others(39): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02004.hp2 HG03492.hp1 others(1): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0005c0007t0001 | a0001c0001t0001g0159a0001c0001t0001g0200a0005c0007t0001g0252others(1): Show | 4 | 279 | 0.0143 | 46 | c.215 others(63): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PHRF1_chr11_571470_617222 | 585487 | C | CCTTTCCA others(39): Show |
intron_variant | MODIFIER | HG02056.hp1 NA20905.hp2 |
a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0127a0005c0007t0001g0180 | 2 | 279 | 0.0072 | 46 | c.215 others(63): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PI4K2A_chr10_97635671_97681434 | 97678880 | G | GGTGTGTG others(39): Show |
downstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0128 | 1 | 350 | 0.0029 | 46 | c.*51 others(57): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 2447 | chr10 | TogoVar | ||||||
| PIAS2_chr18_46798218_46922507 | 46807383 | A | ATATATAT others(39): Show |
3_prime_UTR_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0092 | a0001c0001t0092g0288 | 1 | 322 | 0.0031 | 46 | c.*50 others(57): Show |
PIAS2 | ENSG00000078043.16 | transcript | ENST00000585916.6 | protein_coding | 14/14 | 5049 | chr18 | TogoVar | |||||
| PID1_chr2_229018973_229276287 | 229139039 | G | GAAAGAGA others(39): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 | 1 | 256 | 0.0039 | 46 | c.177 others(65): Show |
PID1 | ENSG00000153823.19 | transcript | ENST00000392055.8 | protein_coding | 2/2 | chr2 | TogoVar | ||||||
| PIEZO2_chr18_10665247_11154569 | 10691782 | C | CACACACA others(39): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03516.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0002 | a0001c0002t0001g0096a0002c0001t0002g0040 | 2 | 158 | 0.0127 | 46 | c.719 others(63): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 47/55 | chr18 | TogoVar | ||||||
| PIEZO2_chr18_10665247_11154569 | 10691782 | C | CACACACA others(39): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0033 | a0001c0033t0002 | a0001c0033t0002g0035 | 1 | 158 | 0.0063 | 46 | c.719 others(63): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 47/55 | chr18 | TogoVar | ||||||
| PIEZO2_chr18_10665247_11154569 | 10691782 | C | CACACACA others(39): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0123 | 1 | 158 | 0.0063 | 46 | c.719 others(63): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 47/55 | chr18 | TogoVar | ||||||
| PIEZO2_chr18_10665247_11154569 | 10691782 | C | CACACACA others(39): Show |
intron_variant | MODIFIER | HG02040.hp1 NA18957.hp1 |
a0015a0027 | a0015c0025a0027c0081 | a0015c0025t0001a0027c0081t0002 | a0015c0025t0001g0082a0027c0081t0002g0095 | 2 | 158 | 0.0127 | 46 | c.719 others(63): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 47/55 | chr18 | TogoVar | ||||||
| PIEZO2_chr18_10665247_11154569 | 10691782 | C | CACACACA others(39): Show |
intron_variant | MODIFIER | HG02896.hp2 NA18950.hp2 |
a0006a0015 | a0006c0004a0015c0025 | a0006c0004t0003a0015c0025t0001 | a0006c0004t0003g0149a0015c0025t0001g0050 | 2 | 158 | 0.0127 | 46 | c.719 others(63): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 47/55 | chr18 | TogoVar | ||||||
| PIEZO2_chr18_10665247_11154569 | 10691782 | C | CACACACA others(39): Show |
intron_variant | MODIFIER | HG02886.hp1 NA18942.hp2 |
a0002a0023 | a0002c0001a0023c0048 | a0002c0001t0001a0023c0048t0001 | a0002c0001t0001g0038a0023c0048t0001g0047 | 2 | 158 | 0.0127 | 46 | c.719 others(63): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 47/55 | chr18 | TogoVar | ||||||
| PIEZO2_chr18_10665247_11154569 | 10691782 | C | CACACACA others(39): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0138 | 1 | 158 | 0.0063 | 46 | c.719 others(63): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 47/55 | chr18 | TogoVar | ||||||
| PIEZO2_chr18_10665247_11154569 | 10720234 | G | GTGTGTGT others(39): Show |
intron_variant | MODIFIER | HG01981.hp1 NA18994.hp2 |
a0003a0004 | a0003c0012a0004c0022 | a0003c0012t0001a0004c0022t0002 | a0003c0012t0001g0098a0004c0022t0002g0042 | 2 | 158 | 0.0127 | 46 | c.503 others(65): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 36/55 | chr18 | TogoVar | ||||||
| PIEZO2_chr18_10665247_11154569 | 10886380 | G | GTATATAT others(39): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0008 | a0008c0054 | a0008c0054t0001 | a0008c0054t0001g0077 | 1 | 158 | 0.0063 | 46 | c.330 others(65): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 4/55 | chr18 | TogoVar | ||||||
| PIEZO2_chr18_10665247_11154569 | 10886487 | C | CATATATA others(39): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0002 | a0002c0023 | a0002c0023t0002 | a0002c0023t0002g0103 | 1 | 158 | 0.0063 | 46 | c.330 others(65): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 4/55 | chr18 | TogoVar | ||||||
| PIEZO2_chr18_10665247_11154569 | 10886487 | C | CATATATA others(39): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0008 | a0008c0054 | a0008c0054t0001 | a0008c0054t0001g0077 | 1 | 158 | 0.0063 | 46 | c.330 others(65): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 4/55 | chr18 | TogoVar | ||||||
| PIEZO2_chr18_10665247_11154569 | 10886487 | C | CATATATA others(39): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02896.hp2 HG02897.hp1 others(1): Show |
a0001a0002a0006 | a0001c0006a0001c0082a0002c0001others(1): Show | a0001c0006t0001a0001c0082t0002a0002c0001t0002others(1): Show | a0001c0006t0001g0115a0001c0082t0002g0092a0002c0001t0002g0151others(1): Show | 4 | 158 | 0.0253 | 46 | c.330 others(65): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 4/55 | chr18 | TogoVar | ||||||
| PIK3C3_chr18_41950234_42092830 | 42076131 | T | TATATATA others(39): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0294 | 1 | 340 | 0.0029 | 46 | c.265 others(65): Show |
PIK3C3 | ENSG00000078142.14 | transcript | ENST00000262039.9 | protein_coding | 24/24 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| PIK3C3_chr18_41950234_42092830 | 42076145 | C | CACATATA others(39): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0210 | 1 | 340 | 0.0029 | 46 | c.265 others(65): Show |
PIK3C3 | ENSG00000078142.14 | transcript | ENST00000262039.9 | protein_coding | 24/24 | chr18 | TogoVar | ||||||
| PIK3C3_chr18_41950234_42092830 | 42076149 | T | TATATATA others(39): Show |
intron_variant | MODIFIER | NA18954.hp2 NA18975.hp2 NA18984.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0273a0001c0001t0002g0274a0001c0001t0002g0275others(2): Show | 5 | 340 | 0.0147 | 46 | c.265 others(65): Show |
PIK3C3 | ENSG00000078142.14 | transcript | ENST00000262039.9 | protein_coding | 24/24 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| PIK3R3_chr1_46035140_46137629 | 46071730 | T | TATATATA others(39): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0303 | 1 | 318 | 0.0031 | 46 | c.315 others(63): Show |
PIK3R3 | ENSG00000117461.15 | transcript | ENST00000262741.10 | protein_coding | 3/9 | chr1 | TogoVar | ||||||
| PIM1_chr6_37165152_37180428 | 37179414 | A | ATATATAT others(39): Show |
downstream_gene_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 414 | 0.0024 | 46 | c.*53 others(57): Show |
PIM1 | ENSG00000137193.14 | transcript | ENST00000373509.6 | protein_coding | 3987 | chr6 | TogoVar | ||||||
| PIPOX_chr17_29038141_29062216 | 29039609 | C | CATATATA others(39): Show |
upstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0029 | 1 | 396 | 0.0025 | 46 | c.-36 others(57): Show |
PIPOX | ENSG00000179761.12 | transcript | ENST00000323372.9 | protein_coding | 3531 | chr17 | TogoVar | ||||||
| PIR_chrX_15379799_15498333 | 15433650 | A | AGAGGAAG others(39): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(84): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0016others(84): Show | 87 | 272 | 0.3199 | 46 | c.481 others(63): Show |
PIR | ENSG00000087842.11 | transcript | ENST00000380420.10 | protein_coding | 5/9 | chrX | TogoVar | ||||||
| PITPNC1_chr17_67372281_67702256 | 67447829 | C | CCTGGGAT others(39): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0067 | a0001c0001t0067g0031 | 1 | 218 | 0.0046 | 46 | c.48+ others(63): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| PITPNM3_chr17_6446263_6561555 | 6505195 | A | AATATATA others(39): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0007 | a0001c0007t0013 | a0001c0007t0013g0189 | 1 | 218 | 0.0046 | 46 | c.227 others(63): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 3/19 | chr17 | TogoVar | ||||||
| PIWIL2_chr8_22270316_22362568 | 22290974 | A | ATATATAT others(39): Show |
intron_variant | MODIFIER | HG01258.hp2 HG01993.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0006a0001c0001t0005g0012 | 2 | 296 | 0.0068 | 46 | c.118 others(63): Show |
PIWIL2 | ENSG00000197181.12 | transcript | ENST00000356766.11 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| PIWIL3_chr22_24714034_24779720 | 24757637 | C | CACATATA others(39): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256 | 1 | 386 | 0.0026 | 46 | c.355 others(61): Show |
PIWIL3 | ENSG00000184571.14 | transcript | ENST00000616349.5 | protein_coding | 4/20 | chr22 | TogoVar | ||||||
| PIWIL3_chr22_24714034_24779720 | 24757659 | T | TACACACA others(39): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 | 1 | 386 | 0.0026 | 46 | c.355 others(61): Show |
PIWIL3 | ENSG00000184571.14 | transcript | ENST00000616349.5 | protein_coding | 4/20 | chr22 | TogoVar | ||||||
| PIWIL3_chr22_24714034_24779720 | 24757661 | C | CACACACA others(39): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0361 | 1 | 386 | 0.0026 | 46 | c.355 others(61): Show |
PIWIL3 | ENSG00000184571.14 | transcript | ENST00000616349.5 | protein_coding | 4/20 | chr22 | TogoVar | ||||||
| PKD1_chr16_2083708_2140898 | 2104211 | A | AAGGGGGA others(39): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02622.hp1 HG02809.hp2 others(2): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0002a0001c0014t0022 | a0001c0001t0002g0079a0001c0001t0002g0080a0001c0001t0002g0081others(2): Show | 5 | 216 | 0.0232 | 46 | c.816 others(63): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 22/45 | chr16 | TogoVar |