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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PIGG_chr4_494210_545200 | 535424 | C | CGCCGCGG others(89): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0005 | a0005c0009 | a0005c0009t0002 | a0005c0009t0002g0129 | 1 | 243 | 0.0041 | 96 | c.273 others(115): Show |
PIGG | ENSG00000174227.16 | transcript | ENST00000453061.7 | protein_coding | 12/12 | chr4 | TogoVar | |||||||
PIGZ_chr3_196941356_196973833 | 196948997 | T | TTCCCCTC others(89): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03225.hp1 HG03516.hp2 |
a0012a0019 | a0012c0057a0012c0059a0019c0058 | a0012c0057t0001a0012c0059t0006a0019c0058t0006 | a0012c0057t0001g0247 a0012c0059t0006g0246 a0019c0058t0006g0219 |
3 | 202 | 0.0149 | 96 | c.212 others(111): Show |
PIGZ | ENSG00000119227.8 | transcript | ENST00000412723.6 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109354102 | A | ATCTATAG others(89): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(25): Show |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0008a0003c0003t0011 | a0003c0003t0002g0056 a0003c0003t0002g0057 a0003c0003t0002g0068 others(25): Show |
28 | 305 | 0.0918 | 96 | c.176 others(115): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109354111 | T | TTAGATAT others(89): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0122 | 1 | 343 | 0.0029 | 96 | c.176 others(115): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109354111 | T | TTAGATAT others(89): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0299 | 1 | 343 | 0.0029 | 96 | c.176 others(115): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109354509 | T | TATAGATT others(89): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0123 | 1 | 245 | 0.0041 | 96 | c.176 others(115): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | |||||||
PKIA_chr8_78511340_78610267 | 78524024 | T | TTATATAT others(89): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG00673.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 others(18): Show |
28 | 145 | 0.1931 | 96 | c.-15 others(115): Show |
PKIA | ENSG00000171033.13 | transcript | ENST00000396418.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PKIA_chr8_78511340_78610267 | 78524024 | T | TTATATAT others(89): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02622.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0038 a0001c0001t0002g0037 |
2 | 119 | 0.0168 | 96 | c.-15 others(115): Show |
PKIA | ENSG00000171033.13 | transcript | ENST00000396418.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PLCB4_chr20_9064087_9485808 | 9188979 | C | CTGTTCAC others(89): Show |
intron_variant | MODIFIER | HG00280.hp1 HG02922.hp1 HG03195.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0007 | a0001c0001t0001g0077 a0002c0002t0001g0101 a0002c0002t0007g0131 |
3 | 133 | 0.0226 | 96 | c.-78 others(115): Show |
PLCB4 | ENSG00000101333.19 | transcript | ENST00000378473.9 | protein_coding | 2/39 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PLCB4_chr20_9064087_9485808 | 9189075 | C | CTGTTCAC others(89): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03209.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0118 a0002c0002t0001g0034 |
2 | 90 | 0.0222 | 96 | c.-78 others(115): Show |
PLCB4 | ENSG00000101333.19 | transcript | ENST00000378473.9 | protein_coding | 2/39 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PLCG2_chr16_81774291_81967685 | 81776079 | C | CTCGTTCT others(89): Show |
upstream_gene_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0188 | 1 | 77 | 0.0130 | 96 | c.-33 others(107): Show |
PLCG2 | ENSG00000197943.12 | transcript | ENST00000564138.6 | protein_coding | 3211 | chr16 | TogoVar | |||||||
PLCG2_chr16_81774291_81967685 | 81776079 | C | CTCGTTCT others(89): Show |
upstream_gene_variant | MODIFIER | HG02165.hp1 NA19079.hp1 |
a0001a0021 | a0001c0001a0021c0048 | a0001c0001t0001a0021c0048t0001 | a0001c0001t0001g0189 a0021c0048t0001g0190 |
2 | 78 | 0.0256 | 96 | c.-33 others(107): Show |
PLCG2 | ENSG00000197943.12 | transcript | ENST00000564138.6 | protein_coding | 3211 | chr16 | TogoVar | |||||||
PLCG2_chr16_81774291_81967685 | 81776079 | C | CTCGTTCT others(89): Show |
upstream_gene_variant | MODIFIER | HG01074.hp1 HG01255.hp2 HG02895.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0019a0001c0002t0005a0001c0003t0001others(2): Show | a0001c0001t0019g0074 a0001c0002t0005g0182 a0001c0003t0001g0057 others(2): Show |
5 | 81 | 0.0617 | 96 | c.-33 others(107): Show |
PLCG2 | ENSG00000197943.12 | transcript | ENST00000564138.6 | protein_coding | 3211 | chr16 | TogoVar | |||||||
PLCXD1_chrX_276381_308356 | 298060 | A | ATGGGGAT others(89): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0003 | a0001c0003t0101 | a0001c0003t0101g0109 | 1 | 172 | 0.0058 | 96 | c.734 others(113): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | chrX | TogoVar | |||||||
PLCXD1_chrX_276381_308356 | 298729 | C | CCATTATT others(89): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0154 | 1 | 156 | 0.0064 | 96 | c.734 others(111): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PLD5_chr1_242077986_242529697 | 242393214 | A | ATATATAT others(89): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0154 | 1 | 159 | 0.0063 | 96 | c.190 others(115): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
PLD5_chr1_242077986_242529697 | 242393214 | A | ATATATAT others(89): Show |
intron_variant | MODIFIER | HG01978.hp2 HG02071.hp1 HG02572.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015a0001c0001t0017others(1): Show | a0001c0001t0001g0044 a0001c0001t0001g0063 a0001c0001t0001g0083 others(4): Show |
7 | 165 | 0.0424 | 96 | c.190 others(115): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
PLD5_chr1_242077986_242529697 | 242394180 | A | ATATGTGT others(89): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02630.hp1 HG03209.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0014a0001c0002t0024 | a0001c0001t0001g0040 a0001c0001t0014g0185 a0001c0001t0014g0186 others(1): Show |
4 | 179 | 0.0223 | 96 | c.190 others(115): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
PLEKHG4B_chr5_87168_194966 | 92369 | G | GGCGCCGG others(89): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0143 | 1 | 2 | 0.5000 | 96 | c.45+ others(107): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLPP2_chr19_276043_296403 | 282325 | G | GGACGTGT others(89): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03098.hp2 NA18983.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0097 a0002c0002t0001g0126 a0002c0002t0001g0128 |
3 | 315 | 0.0095 | 96 | c.541 others(110): Show |
PLPP2 | ENSG00000141934.10 | transcript | ENST00000434325.7 | protein_coding | 4/5 | chr19 | TogoVar | |||||||
PLVAP_chr19_17346455_17382342 | 17349152 | T | TTCTCTCT others(89): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0149 | 1 | 385 | 0.0026 | 96 | c.*32 others(107): Show |
PLVAP | ENSG00000130300.9 | transcript | ENST00000252590.9 | protein_coding | 2302 | chr19 | TogoVar | |||||||
PLXDC2_chr10_19811432_20294856 | 20026838 | T | TACTTTTA others(89): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01516.hp1 HG02896.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011a0001c0001t0021 | a0001c0001t0003g0123 a0001c0001t0011g0143 a0001c0001t0011g0144 others(1): Show |
4 | 130 | 0.0308 | 96 | c.325 others(115): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXNB2_chr22_50269979_50312646 | 50274625 | C | CCCCCACC others(89): Show |
downstream_gene_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0062 | 1 | 298 | 0.0034 | 96 | c.*10 others(107): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 353 | chr22 | TogoVar | |||||||
PLXNB2_chr22_50269979_50312646 | 50274625 | C | CCCCCACC others(89): Show |
downstream_gene_variant | MODIFIER | HG01261.hp2 | a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0237 | 1 | 298 | 0.0034 | 96 | c.*10 others(107): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 353 | chr22 | TogoVar | |||||||
POLRMT_chr19_612221_638537 | 613590 | T | TGGGGATG others(89): Show |
downstream_gene_variant | MODIFIER | HG01516.hp2 HG01517.hp2 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0234 a0002c0003t0002g0235 |
2 | 401 | 0.0050 | 96 | c.*36 others(107): Show |
POLRMT | ENSG00000099821.14 | transcript | ENST00000588649.7 | protein_coding | 3630 | chr19 | TogoVar | |||||||
POLRMT_chr19_612221_638537 | 613590 | T | TGGGGATG others(89): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG01070.hp1 others(11): Show |
a0001a0002a0014 | a0001c0001a0001c0028a0002c0006others(2): Show | a0001c0001t0001a0001c0001t0011a0001c0028t0001others(3): Show | a0001c0001t0001g0005 a0001c0001t0011g0338 a0001c0028t0001g0041 others(10): Show |
14 | 413 | 0.0339 | 96 | c.*36 others(107): Show |
POLRMT | ENSG00000099821.14 | transcript | ENST00000588649.7 | protein_coding | 3630 | chr19 | TogoVar | |||||||
POR_chr7_75910155_75991855 | 75988980 | G | GGGGTGGA others(89): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 NA18948.hp2 |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0168 a0002c0001t0002g0204 |
2 | 265 | 0.0075 | 96 | c.*24 others(107): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 2126 | chr7 | TogoVar | |||||||
POU6F1_chr12_51181936_51223062 | 51197043 | T | TGTCTACC others(89): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00558.hp2 HG00597.hp2 others(42): Show |
a0001a0003a0006 | a0001c0001a0003c0003a0006c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0002 a0001c0001t0001g0125 a0001c0001t0001g0127 others(35): Show |
45 | 190 | 0.2368 | 96 | c.847 others(111): Show |
POU6F1 | ENSG00000184271.18 | transcript | ENST00000333640.12 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
POU6F1_chr12_51181936_51223062 | 51197211 | G | GGCTGGAT others(89): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0141 | 1 | 433 | 0.0023 | 96 | c.847 others(111): Show |
POU6F1 | ENSG00000184271.18 | transcript | ENST00000333640.12 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
PPFIA2_chr12_81252975_81764350 | 81642672 | C | CATTATGT others(89): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0075 | 1 | 149 | 0.0067 | 96 | c.303 others(115): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 4/32 | chr12 | TogoVar | |||||||
PPFIA2_chr12_81252975_81764350 | 81642703 | T | TGTATATA others(89): Show |
intron_variant | MODIFIER | HG02698.hp1 HG03831.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 a0001c0001t0003g0021 |
2 | 78 | 0.0256 | 96 | c.303 others(115): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 4/32 | chr12 | TogoVar | |||||||
PPM1L_chr3_160751231_161083902 | 160944817 | T | TATGTTAT others(89): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0074 | 1 | 206 | 0.0049 | 96 | c.400 others(115): Show |
PPM1L | ENSG00000163590.14 | transcript | ENST00000498165.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PPP1R14C_chr6_150138044_150255392 | 150197715 | C | CCCTGGCC others(89): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0006 | 1 | 310 | 0.0032 | 96 | c.307 others(115): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PPP2R2C_chr4_6315581_6477614 | 6336821 | C | CTCCCTCC others(89): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01433.hp1 HG04199.hp2 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0006a0001c0008t0001 | a0001c0001t0001g0104 a0001c0001t0006g0223 a0001c0008t0001g0083 |
3 | 276 | 0.0109 | 96 | c.791 others(113): Show |
PPP2R2C | ENSG00000074211.14 | transcript | ENST00000382599.9 | protein_coding | 6/8 | chr4 | TogoVar | |||||||
PPP2R2C_chr4_6315581_6477614 | 6336825 | T | TTCCCTCC others(89): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 143 | 0.0070 | 96 | c.791 others(113): Show |
PPP2R2C | ENSG00000074211.14 | transcript | ENST00000382599.9 | protein_coding | 6/8 | chr4 | TogoVar | |||||||
PPP3CA_chr4_101018418_101352526 | 101106450 | A | AAAGAAAG others(89): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 167 | 0.0060 | 96 | c.384 others(113): Show |
PPP3CA | ENSG00000138814.17 | transcript | ENST00000394854.8 | protein_coding | 3/13 | chr4 | TogoVar | |||||||
PRDM16_chr1_3064203_3443621 | 3165236 | G | GACGGTGA others(89): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0083 | a0001c0001t0083g0027 | 1 | 208 | 0.0048 | 96 | c.38- others(113): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3287405 | G | GAGCCGCC others(89): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02559.hp1 |
a0001a0002 | a0001c0008a0002c0003 | a0001c0008t0001a0002c0003t0029 | a0001c0008t0001g0005 a0002c0003t0029g0106 |
2 | 207 | 0.0097 | 96 | c.438 others(115): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRG3_chr11_57371769_57386150 | 57376249 | A | ACCAACCC others(89): Show |
downstream_gene_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0010 | 1 | 394 | 0.0025 | 96 | c.*60 others(105): Show |
PRG3 | ENSG00000156575.2 | transcript | ENST00000287143.2 | protein_coding | 519 | chr11 | TogoVar | |||||||
PRKAR2A_chr3_48741586_48852874 | 48829608 | G | GTGTATAC others(89): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0002 | 1 | 124 | 0.0081 | 96 | c.262 others(115): Show |
PRKAR2A | ENSG00000114302.17 | transcript | ENST00000265563.13 | protein_coding | 1/10 | chr3 | TogoVar | |||||||
PRKCA_chr17_66297613_66815743 | 66798620 | G | GTGATGGT others(89): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0072 | 1 | 152 | 0.0066 | 96 | c.185 others(115): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PRKCA_chr17_66297613_66815743 | 66799583 | A | ATGGTGGT others(89): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0124 | 1 | 120 | 0.0083 | 96 | c.185 others(115): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 23981919 | T | TCCCTTCC others(89): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0062 | 1 | 139 | 0.0072 | 96 | c.206 others(113): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRKCG_chr19_53877197_53912652 | 53905872 | A | ATTTCATC others(89): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0004 | a0004c0019 | a0004c0019t0001 | a0004c0019t0001g0203 | 1 | 360 | 0.0028 | 96 | c.176 others(113): Show |
PRKCG | ENSG00000126583.12 | transcript | ENST00000263431.4 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2124063 | G | GGTGGTGG others(89): Show |
intron_variant | MODIFIER | HG03041.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018 a0001c0001t0002g0022 |
2 | 283 | 0.0071 | 96 | c.335 others(115): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2124081 | G | GGTGGTGG others(89): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0017 | 1 | 283 | 0.0035 | 96 | c.335 others(115): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKN_chr6_161342417_162732766 | 161873982 | A | ATATATGT others(89): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0001 | 1 | 16 | 0.0625 | 96 | c.735 others(115): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 6/11 | chr6 | TogoVar | |||||||
PROZ_chr13_113153648_113177386 | 113176446 | A | ACCCGACA others(89): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0227 | 1 | 289 | 0.0035 | 96 | c.*43 others(107): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 4061 | chr13 | TogoVar | |||||||
PRR5L_chr11_36291288_36470204 | 36351611 | T | TTATATAT others(89): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0112 | 1 | 251 | 0.0040 | 96 | c.-12 others(117): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PRRC2B_chr9_131389086_131505193 | 131420454 | T | TTTCTTTC others(89): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0119 | 1 | 213 | 0.0047 | 96 | c.-51 others(113): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |