| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PFKFB3_chr10_6197932_6240532 | 6200672 | GGGGCGGG others(10): Show |
G | upstream_gene_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0062 | 1 | 432 | 0.0023 | -17 | c.-25 others(28): Show |
PFKFB3 | ENSG00000170525.21 | transcript | ENST00000379775.9 | protein_coding | 2259 | chr10 | TogoVar | ||||||
| PFKFB4_chr3_48512684_48561803 | 48529316 | AAGTCATA others(10): Show |
A | intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 246 | 0.0041 | -17 | c.988 others(34): Show |
PFKFB4 | ENSG00000114268.12 | transcript | ENST00000232375.8 | protein_coding | 9/13 | chr3 | TogoVar | ||||||
| PFKL_chr21_44295053_44332373 | 44300726 | GGCTGCCC others(10): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00733.hp2 others(126): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0065others(104): Show | 129 | 392 | 0.3291 | -17 | c.85+ others(30): Show |
PFKL | ENSG00000141959.17 | transcript | ENST00000349048.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PFKL_chr21_44295053_44332373 | 44304732 | CGGGGGGC others(10): Show |
C | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG01496.hp1 others(20): Show |
a0001 | a0001c0001a0001c0007a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0065a0001c0001t0001g0116a0001c0001t0001g0119others(18): Show | 23 | 392 | 0.0587 | -17 | c.86- others(32): Show |
PFKL | ENSG00000141959.17 | transcript | ENST00000349048.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PFKM_chr12_48114364_48151404 | 48129210 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG02622.hp2 HG02723.hp2 HG02886.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053a0001c0001t0001g0208a0001c0001t0001g0209others(2): Show | 6 | 412 | 0.0146 | -17 | c.86- others(32): Show |
PFKM | ENSG00000152556.17 | transcript | ENST00000359794.11 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PFKP_chr10_3062548_3141802 | 3106872 | ACCCCTGC others(10): Show |
A | intron_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0096 | 1 | 402 | 0.0025 | -17 | c.775 others(32): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PFKP_chr10_3062548_3141802 | 3121814 | TTTTTTTT others(10): Show |
T | intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0149 | 1 | 402 | 0.0025 | -17 | c.168 others(36): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PGAM5_chr12_132705842_132727734 | 132718461 | TGGGGTGC others(10): Show |
T | intron_variant | MODIFIER | HG03669.hp1 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0078a0001c0001t0016g0120 | 2 | 394 | 0.0051 | -17 | c.719 others(32): Show |
PGAM5 | ENSG00000247077.8 | transcript | ENST00000498926.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PGBD5_chr1_230309490_230431332 | 230396030 | CTTGCTTC others(10): Show |
C | intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0159 | 1 | 288 | 0.0035 | -17 | c.331 others(36): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
| PGD_chr1_10394064_10425511 | 10412812 | GTGAGGAG others(10): Show |
G | intron_variant | MODIFIER | HG01256.hp1 HG01258.hp1 HG02004.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009 | a0001c0001t0005g0033a0001c0001t0005g0034a0001c0001t0009g0033 | 4 | 394 | 0.0102 | -17 | c.655 others(32): Show |
PGD | ENSG00000142657.21 | transcript | ENST00000270776.13 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PGGT1B_chr5_115199012_115267877 | 115232989 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(110): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0005a0001c0001t0007others(52): Show | a0001c0001t0004g0068a0001c0001t0004g0088a0001c0001t0004g0136others(106): Show | 113 | 372 | 0.3038 | -17 | c.613 others(34): Show |
PGGT1B | ENSG00000164219.10 | transcript | ENST00000419445.6 | protein_coding | 5/8 | chr5 | TogoVar | ||||||
| PGLYRP2_chr19_15463645_15484501 | 15467837 | TTTTCCTT others(10): Show |
T | downstream_gene_variant | MODIFIER | NA18948.hp1 NA18960.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024a0001c0001t0001g0308 | 2 | 382 | 0.0052 | -17 | c.*80 others(26): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 807 | chr19 | TogoVar | ||||||
| PGLYRP2_chr19_15463645_15484501 | 15479256 | TACGCCTT others(10): Show |
T | intron_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 382 | 0.0026 | -17 | c.61+ others(28): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 1/4 | chr19 | TogoVar | ||||||
| PGLYRP2_chr19_15463645_15484501 | 15482607 | CCTTCCTT others(10): Show |
C | upstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 382 | 0.0026 | -17 | c.-32 others(28): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 3107 | chr19 | TogoVar | ||||||
| PGPEP1L_chr15_98963229_99012792 | 98979630 | ATTCTTTT others(10): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG03041.hp1 NA18948.hp2 |
a0000 | a0000c0002 | a0000c0002t0001a0000c0002t0016 | a0000c0002t0001g0194a0000c0002t0001g0204a0000c0002t0016g0011 | 3 | 398 | 0.0075 | -17 | c.-14 others(36): Show |
PGPEP1L | ENSG00000183571.11 | transcript | ENST00000535714.2 | protein_coding | 2/4 | chr15 | TogoVar | ||||||
| PGP_chr16_2206593_2219840 | 2214777 | TCGCCGCC others(10): Show |
T | start_retained_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0023 | 1 | 452 | 0.0022 | -17 | c.-17 others(23): Show |
PGP | ENSG00000184207.9 | transcript | ENST00000333503.8 | protein_coding | 1/2 | chr16 | TogoVar | ||||||
| PGR_chr11_101024624_101134813 | 101046292 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG00733.hp1 HG02717.hp2 HG02895.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0022a0001c0002t0026 | a0001c0002t0022g0043a0001c0002t0022g0055a0001c0002t0026g0042others(1): Show | 4 | 254 | 0.0158 | -17 | c.248 others(36): Show |
PGR | ENSG00000082175.16 | transcript | ENST00000325455.10 | protein_coding | 6/7 | chr11 | TogoVar | ||||||
| PGR_chr11_101024624_101134813 | 101064331 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02258.hp1 HG02896.hp2 others(2): Show |
a0004 | a0004c0006 | a0004c0006t0011a0004c0006t0041 | a0004c0006t0011g0012a0004c0006t0011g0014a0004c0006t0011g0015others(2): Show | 5 | 254 | 0.0197 | -17 | c.190 others(36): Show |
PGR | ENSG00000082175.16 | transcript | ENST00000325455.10 | protein_coding | 3/7 | chr11 | TogoVar | ||||||
| PGS1_chr17_78373649_78429659 | 78377686 | CTTTTTTT others(10): Show |
C | upstream_gene_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0056 | 1 | 398 | 0.0025 | -17 | c.-97 others(26): Show |
PGS1 | ENSG00000087157.19 | transcript | ENST00000262764.11 | protein_coding | 962 | chr17 | TogoVar | ||||||
| PGS1_chr17_78373649_78429659 | 78410462 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0343 | 1 | 398 | 0.0025 | -17 | c.140 others(36): Show |
PGS1 | ENSG00000087157.19 | transcript | ENST00000262764.11 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| PGS1_chr17_78373649_78429659 | 78416536 | CCACTGCC others(10): Show |
C | intron_variant | MODIFIER | HG02630.hp2 HG02895.hp1 HG03225.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0333a0001c0001t0001g0334a0001c0001t0001g0349others(1): Show | 4 | 398 | 0.0101 | -17 | c.155 others(36): Show |
PGS1 | ENSG00000087157.19 | transcript | ENST00000262764.11 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| PGS1_chr17_78373649_78429659 | 78422790 | CTTTGAAG others(10): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01952.hp1 |
a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0015a0001c0002t0007g0110 | 2 | 398 | 0.0050 | -17 | c.*11 others(34): Show |
PGS1 | ENSG00000087157.19 | transcript | ENST00000262764.11 | protein_coding | 9/9 | chr17 | TogoVar | ||||||
| PHACTR1_chr6_12711767_13292837 | 13191730 | GGAGGGAC others(10): Show |
G | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0054 | 1 | 108 | 0.0093 | -17 | c.664 others(34): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| PHACTR1_chr6_12711767_13292837 | 13267838 | GAAAAAAA others(10): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG01167.hp1 HG01167.hp2 others(47): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0011a0001c0001t0001g0018others(47): Show | 50 | 108 | 0.4630 | -17 | c.139 others(36): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| PHACTR1_chr6_12711767_13292837 | 13288116 | CTCTTTTT others(10): Show |
C | downstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0044 | 1 | 108 | 0.0093 | -17 | c.*10 others(28): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 280 | chr6 | TogoVar | ||||||
| PHACTR2_chr6_143672965_143836185 | 143736554 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0127 | a0001c0001t0127g0018 | 1 | 310 | 0.0032 | -17 | c.215 others(36): Show |
PHACTR2 | ENSG00000112419.15 | transcript | ENST00000440869.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| PHACTR3_chr20_59599540_59852711 | 59847037 | ATTTGTAT others(10): Show |
A | intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 250 | 0.0040 | -17 | c.166 others(32): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 12/12 | chr20 | TogoVar | ||||||
| PHAX_chr5_126595947_126632252 | 126611299 | CGGCCTCG others(10): Show |
C | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0238 | 1 | 382 | 0.0026 | -17 | c.831 others(34): Show |
PHAX | ENSG00000164902.14 | transcript | ENST00000297540.5 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PHEX_chrX_22027325_22256310 | 22055174 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG02615.hp2 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0050 | a0001c0001t0005g0139a0001c0001t0050g0128 | 2 | 231 | 0.0087 | -17 | c.349 others(34): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| PHEX_chrX_22027325_22256310 | 22176393 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0124 | a0001c0001t0124g0121 | 1 | 231 | 0.0043 | -17 | c.148 others(36): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| PHEX_chrX_22027325_22256310 | 22176397 | AAAAAAAT others(10): Show |
A | intron_variant | MODIFIER | HG02965.hp1 HG03195.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0047a0001c0001t0098a0001c0001t0099 | a0001c0001t0047g0170a0001c0001t0098g0172a0001c0001t0099g0070 | 3 | 231 | 0.0130 | -17 | c.148 others(36): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| PHEX_chrX_22027325_22256310 | 22176399 | AAAAATAT others(10): Show |
A | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0004 | a0001c0004t0157 | a0001c0004t0157g0008 | 1 | 231 | 0.0043 | -17 | c.148 others(36): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| PHF10_chr6_169698902_169729500 | 169724436 | CCCTCAGC others(10): Show |
C | 5_prime_UTR_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0214 | 1 | 394 | 0.0025 | -17 | c.-52 others(26): Show |
PHF10 | ENSG00000130024.15 | transcript | ENST00000339209.9 | protein_coding | 1/12 | 506 | chr6 | TogoVar | |||||
| PHF14_chr7_10968872_11174618 | 11162072 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0101 | 1 | 298 | 0.0034 | -17 | c.277 others(36): Show |
PHF14 | ENSG00000106443.17 | transcript | ENST00000634607.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| PHF20_chr20_35767015_35955370 | 35885467 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG01515.hp2 HG01517.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0156a0001c0001t0002g0157a0001c0001t0002g0158others(18): Show | 21 | 206 | 0.1019 | -17 | c.128 others(38): Show |
PHF20 | ENSG00000025293.17 | transcript | ENST00000374012.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| PHF21A_chr11_45924319_46126454 | 46079834 | AAGGAAAG others(10): Show |
A | intron_variant | MODIFIER | HG02970.hp2 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0096a0001c0001t0018g0097 | 2 | 280 | 0.0071 | -17 | c.55- others(30): Show |
PHF21A | ENSG00000135365.17 | transcript | ENST00000676320.1 | protein_coding | 4/18 | chr11 | TogoVar | ||||||
| PHF21B_chr22_44876162_45015005 | 45007539 | CGGCGCGG others(10): Show |
C | intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0163 | 1 | 300 | 0.0033 | -17 | c.120 others(33): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 2/12 | chr22 | TogoVar | ||||||
| PHF5A_chr22_41454717_41473692 | 41470528 | CTTTTTTT others(10): Show |
C | upstream_gene_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0109 | 1 | 408 | 0.0025 | -17 | c.-18 others(28): Show |
PHF5A | ENSG00000100410.8 | transcript | ENST00000216252.4 | protein_coding | 1837 | chr22 | TogoVar | ||||||
| PHF8_chrX_53931680_54049473 | 54009844 | GAAAAAAA others(10): Show |
G | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0171 | 1 | 186 | 0.0054 | -17 | c.946 others(34): Show |
PHF8 | ENSG00000172943.21 | transcript | ENST00000338154.11 | protein_coding | 8/21 | chrX | TogoVar | ||||||
| PHIP_chr6_78929419_79083254 | 79061912 | CCATGAAT others(10): Show |
C | intron_variant | MODIFIER | HG02723.hp1 NA19030.hp2 |
a0001 | a0001c0005 | a0001c0005t0049a0001c0005t0054 | a0001c0005t0049g0036a0001c0005t0054g0038 | 2 | 318 | 0.0063 | -17 | c.190 others(34): Show |
PHIP | ENSG00000146247.15 | transcript | ENST00000275034.5 | protein_coding | 4/39 | chr6 | TogoVar | ||||||
| PHKB_chr16_47456331_47706523 | 47461746 | GGAATGTG others(10): Show |
G | intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0095 | 1 | 98 | 0.0102 | -17 | c.76+ others(30): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| PHLPP1_chr18_62710541_62985433 | 62971658 | GGAAGCAG others(10): Show |
G | intron_variant | MODIFIER | HG01074.hp2 HG01167.hp1 HG01169.hp1 others(2): Show |
a0003a0012 | a0003c0004a0012c0023 | a0003c0004t0008a0003c0004t0017a0003c0004t0018others(1): Show | a0003c0004t0008g0058a0003c0004t0008g0059a0003c0004t0017g0057others(2): Show | 5 | 192 | 0.0260 | -17 | c.356 others(34): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| PHLPP2_chr16_71639924_71729701 | 71701139 | GACCATCC others(10): Show |
G | intron_variant | MODIFIER | HG01255.hp2 HG01981.hp2 HG01993.hp1 others(4): Show |
a0003 | a0003c0004 | a0003c0004t0002a0003c0004t0019 | a0003c0004t0002g0211a0003c0004t0002g0214a0003c0004t0002g0222others(4): Show | 7 | 324 | 0.0216 | -17 | c.418 others(34): Show |
PHLPP2 | ENSG00000040199.18 | transcript | ENST00000568954.5 | protein_coding | 3/18 | chr16 | TogoVar | ||||||
| PHOX2B_chr4_41739082_41753725 | 41751804 | TGGGCGCC others(10): Show |
T | upstream_gene_variant | MODIFIER | HG02717.hp1 HG03225.hp1 HG06807.hp2 others(1): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0004a0001c0013t0021 | a0001c0001t0004g0013a0001c0013t0021g0043 | 4 | 382 | 0.0105 | -17 | c.-32 others(28): Show |
PHOX2B | ENSG00000109132.7 | transcript | ENST00000226382.4 | protein_coding | 3080 | chr4 | TogoVar | ||||||
| PHYH_chr10_13272799_13305064 | 13303125 | TGAGACGG others(10): Show |
T | upstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 438 | 0.0023 | -17 | c.-31 others(28): Show |
PHYH | ENSG00000107537.14 | transcript | ENST00000263038.9 | protein_coding | 3062 | chr10 | TogoVar | ||||||
| PI4K2B_chr4_25229033_25284204 | 25245850 | TGTCTCAC others(10): Show |
T | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0012 | a0001c0012t0018 | a0001c0012t0018g0253 | 1 | 436 | 0.0023 | -17 | c.269 others(34): Show |
PI4K2B | ENSG00000038210.14 | transcript | ENST00000264864.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PI4KA_chr22_20702691_20863811 | 20817734 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG01257.hp1 HG04204.hp2 |
a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0067a0001c0011t0001g0087 | 2 | 334 | 0.0060 | -17 | c.856 others(32): Show |
PI4KA | ENSG00000241973.11 | transcript | ENST00000255882.11 | protein_coding | 7/54 | chr22 | TogoVar | ||||||
| PI4KA_chr22_20702691_20863811 | 20824762 | ACACACAC others(10): Show |
A | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0029 | a0001c0029t0001 | a0001c0029t0001g0159 | 1 | 334 | 0.0030 | -17 | c.368 others(32): Show |
PI4KA | ENSG00000241973.11 | transcript | ENST00000255882.11 | protein_coding | 3/54 | chr22 | TogoVar | ||||||
| PI4KA_chr22_20702691_20863811 | 20831597 | AAAAACAA others(10): Show |
A | intron_variant | MODIFIER | HG01496.hp2 HG02015.hp2 HG02055.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0009 | a0001c0001t0001a0001c0006t0001a0002c0009t0001 | a0001c0001t0001g0247a0001c0006t0001g0001a0001c0006t0001g0277others(7): Show | 11 | 334 | 0.0329 | -17 | c.367 others(34): Show |
PI4KA | ENSG00000241973.11 | transcript | ENST00000255882.11 | protein_coding | 3/54 | chr22 | TogoVar | ||||||
| PIAS2_chr18_46798218_46922507 | 46803044 | CAAAAAAA others(10): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG01071.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0025a0001c0001t0029others(25): Show | a0001c0001t0010g0067a0001c0001t0025g0005a0001c0001t0025g0060others(26): Show | 29 | 322 | 0.0901 | -17 | c.*93 others(28): Show |
PIAS2 | ENSG00000078043.16 | transcript | ENST00000585916.6 | protein_coding | 173 | chr18 | TogoVar |