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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PKD1_chr16_2083708_2140898 | 2104211 | A | AAGGGGGA others(40): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0005 | a0005c0032 | a0005c0032t0017 | a0005c0032t0017g0085 | 1 | 216 | 0.0046 | 47 | c.816 others(64): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 22/45 | chr16 | TogoVar | ||||||
PKD2L1_chr10_100283149_100335228 | 100314991 | G | GGAAGGGA others(40): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0028 | 1 | 306 | 0.0033 | 47 | c.349 others(66): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
PKHD1L1_chr8_109357461_109542207 | 109380202 | A | ATCTCAGC others(40): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0051 | a0051c0060 | a0051c0060t0005 | a0051c0060t0005g0035 | 1 | 282 | 0.0036 | 47 | c.164 others(64): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PKP3_chr11_389209_409908 | 401397 | C | CGCCCCGC others(40): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 216 | 0.0046 | 47 | c.173 others(64): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PKP3_chr11_389209_409908 | 402828 | G | GCCCCGCT others(40): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00639.hp1 HG01256.hp1 others(43): Show |
a0001a0002a0010others(3): Show | a0001c0002a0001c0003a0001c0010others(6): Show | a0001c0002t0001a0001c0003t0001a0001c0010t0001others(6): Show | a0001c0002t0001g0100a0001c0002t0001g0106a0001c0002t0001g0125others(43): Show | 46 | 216 | 0.2130 | 47 | c.173 others(64): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PKP3_chr11_389209_409908 | 403015 | C | CCCCCGCC others(40): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00639.hp1 others(37): Show |
a0001a0002a0016 | a0001c0002a0001c0003a0001c0010others(4): Show | a0001c0002t0001a0001c0003t0001a0001c0010t0001others(5): Show | a0001c0002t0001g0100a0001c0002t0001g0105a0001c0002t0001g0106others(37): Show | 40 | 216 | 0.1852 | 47 | c.173 others(62): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PLAAT3_chr11_63569462_63619433 | 63615017 | A | ATATATAT others(40): Show |
upstream_gene_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 352 | 0.0028 | 47 | c.-68 others(56): Show |
PLAAT3 | ENSG00000176485.14 | transcript | ENST00000415826.3 | protein_coding | 585 | chr11 | TogoVar | ||||||
PLEKHA5_chr12_19124733_19381400 | 19372279 | T | TTTTTTGC others(40): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0165 | 1 | 316 | 0.0032 | 47 | c.*11 others(64): Show |
PLEKHA5 | ENSG00000052126.17 | transcript | ENST00000429027.7 | protein_coding | 31/31 | chr12 | TogoVar | ||||||
PLG_chr6_160697244_160759097 | 160748350 | G | GAGAAAGA others(40): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0003 | a0003c0012 | a0003c0012t0021 | a0003c0012t0021g0315 | 1 | 384 | 0.0026 | 47 | c.212 others(66): Show |
PLG | ENSG00000122194.20 | transcript | ENST00000308192.14 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PLG_chr6_160697244_160759097 | 160748350 | G | GAGAAAGA others(40): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0128 | 1 | 384 | 0.0026 | 47 | c.212 others(66): Show |
PLG | ENSG00000122194.20 | transcript | ENST00000308192.14 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PLIN4_chr19_4497192_4523486 | 4509316 | A | AAAAAAAA others(40): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG01167.hp1 others(22): Show |
a0005a0008a0018others(9): Show | a0005c0007a0005c0025a0008c0127others(13): Show | a0005c0007t0003a0005c0007t0004a0005c0025t0004others(15): Show | a0005c0007t0003g0014a0005c0007t0003g0197a0005c0007t0004g0132others(17): Show | 25 | 412 | 0.0607 | 47 | c.351 others(64): Show |
PLIN4 | ENSG00000167676.5 | transcript | ENST00000301286.5 | protein_coding | 5/7 | chr19 | TogoVar | ||||||
PLIN4_chr19_4497192_4523486 | 4509316 | A | AAAAAAAC others(40): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0077 | a0077c0126 | a0077c0126t0003 | a0077c0126t0003g0151 | 1 | 412 | 0.0024 | 47 | c.351 others(64): Show |
PLIN4 | ENSG00000167676.5 | transcript | ENST00000301286.5 | protein_coding | 5/7 | chr19 | TogoVar | ||||||
PLIN4_chr19_4497192_4523486 | 4509316 | A | AAAACAAA others(40): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0020 | a0020c0023 | a0020c0023t0004 | a0020c0023t0004g0254 | 1 | 412 | 0.0024 | 47 | c.351 others(64): Show |
PLIN4 | ENSG00000167676.5 | transcript | ENST00000301286.5 | protein_coding | 5/7 | chr19 | TogoVar | ||||||
PLIN4_chr19_4497192_4523486 | 4509320 | A | AAACAAAA others(40): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0005 | a0005c0025 | a0005c0025t0004 | a0005c0025t0004g0152 | 1 | 412 | 0.0024 | 47 | c.351 others(64): Show |
PLIN4 | ENSG00000167676.5 | transcript | ENST00000301286.5 | protein_coding | 5/7 | chr19 | TogoVar | ||||||
PLK3_chr1_44795377_44810990 | 44795690 | T | TATAAATA others(40): Show |
upstream_gene_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 384 | 0.0026 | 47 | c.-47 others(58): Show |
PLK3 | ENSG00000173846.13 | transcript | ENST00000372201.5 | protein_coding | 4686 | chr1 | TogoVar | ||||||
PLK3_chr1_44795377_44810990 | 44796270 | A | AAAATATA others(40): Show |
upstream_gene_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 384 | 0.0026 | 47 | c.-41 others(58): Show |
PLK3 | ENSG00000173846.13 | transcript | ENST00000372201.5 | protein_coding | 4106 | chr1 | TogoVar | ||||||
PLPP3_chr1_56489761_56584563 | 56557000 | A | AAGAAAGA others(40): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0259 | 1 | 336 | 0.0030 | 47 | c.140 others(66): Show |
PLPP3 | ENSG00000162407.9 | transcript | ENST00000371250.4 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
PLPP3_chr1_56489761_56584563 | 56557000 | A | AAGAAAGA others(40): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG00733.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0017a0001c0001t0001g0039a0001c0001t0001g0084others(17): Show | 20 | 336 | 0.0595 | 47 | c.140 others(66): Show |
PLPP3 | ENSG00000162407.9 | transcript | ENST00000371250.4 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
PLPP3_chr1_56489761_56584563 | 56557004 | A | AAGAAAGA others(40): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0297 | 1 | 336 | 0.0030 | 47 | c.140 others(66): Show |
PLPP3 | ENSG00000162407.9 | transcript | ENST00000371250.4 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
PLXNB2_chr22_50269979_50312646 | 50282648 | A | AAGGGCAC others(40): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01106.hp1 HG01261.hp1 others(35): Show |
a0001a0002a0004others(6): Show | a0001c0006a0001c0050a0002c0007others(13): Show | a0001c0006t0001a0001c0050t0001a0002c0007t0001others(14): Show | a0001c0006t0001g0137a0001c0006t0001g0148a0001c0006t0001g0149others(32): Show | 38 | 302 | 0.1258 | 47 | c.298 others(62): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 18/36 | chr22 | TogoVar | ||||||
PLXNB2_chr22_50269979_50312646 | 50307773 | G | GGAGGGGG others(40): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 | a0003 | a0003c0022 | a0003c0022t0001 | a0003c0022t0001g0294 | 1 | 302 | 0.0033 | 47 | c.-29 others(56): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 128 | chr22 | TogoVar | ||||||
PLXNB2_chr22_50269979_50312646 | 50307773 | G | GGAGGGGG others(40): Show |
upstream_gene_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0169 | 1 | 302 | 0.0033 | 47 | c.-29 others(56): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 128 | chr22 | TogoVar | ||||||
PLXNB2_chr22_50269979_50312646 | 50307773 | G | GGAGGGGG others(40): Show |
upstream_gene_variant | MODIFIER | HG01106.hp1 | a0024 | a0024c0055 | a0024c0055t0001 | a0024c0055t0001g0216 | 1 | 302 | 0.0033 | 47 | c.-29 others(56): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 128 | chr22 | TogoVar | ||||||
PLXNB2_chr22_50269979_50312646 | 50307773 | G | GGGAGGGG others(40): Show |
upstream_gene_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0204 | 1 | 302 | 0.0033 | 47 | c.-29 others(56): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 128 | chr22 | TogoVar | ||||||
PLXNB2_chr22_50269979_50312646 | 50307781 | A | AGGGGAGG others(40): Show |
upstream_gene_variant | MODIFIER | HG04115.hp1 NA19081.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0145a0001c0003t0001g0242 | 2 | 302 | 0.0066 | 47 | c.-30 others(56): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 136 | chr22 | TogoVar | ||||||
PMM1_chr22_41571900_41594840 | 41594335 | G | GGGTGGGG others(40): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00673.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(6): Show | 15 | 330 | 0.0455 | 47 | c.-45 others(58): Show |
PMM1 | ENSG00000100417.12 | transcript | ENST00000216259.8 | protein_coding | 4496 | chr22 | TogoVar | ||||||
PMM1_chr22_41571900_41594840 | 41594338 | T | TGGGGGGG others(40): Show |
upstream_gene_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 330 | 0.0030 | 47 | c.-45 others(58): Show |
PMM1 | ENSG00000100417.12 | transcript | ENST00000216259.8 | protein_coding | 4499 | chr22 | TogoVar | ||||||
PNMA5_chrX_152983824_152999116 | 152998641 | T | TTATATAA others(40): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 HG02280.hp1 HG02630.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0006a0001c0001t0004g0010a0001c0001t0005g0012 | 8 | 286 | 0.0280 | 47 | c.-49 others(58): Show |
PNMA5 | ENSG00000198883.12 | transcript | ENST00000535214.6 | protein_coding | 4526 | chrX | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137551734 | A | AGCCCCGC others(40): Show |
upstream_gene_variant | MODIFIER | HG02717.hp2 | a0017 | a0017c0029 | a0017c0029t0001 | a0017c0029t0001g0172 | 1 | 188 | 0.0053 | 47 | c.-15 others(58): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 1333 | chr9 | TogoVar | ||||||
PODXL_chr7_131495271_131561628 | 131558478 | A | ATATATAT others(40): Show |
upstream_gene_variant | MODIFIER | HG02723.hp2 NA19240.hp2 |
a0009a0028 | a0009c0014a0028c0039 | a0009c0014t0003a0028c0039t0004 | a0009c0014t0003g0037a0028c0039t0004g0040 | 2 | 440 | 0.0046 | 47 | c.-21 others(58): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 1851 | chr7 | TogoVar | ||||||
POLDIP2_chr17_28341633_28362527 | 28353520 | C | CAAAAAAA others(40): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0176 | 1 | 340 | 0.0029 | 47 | c.438 others(62): Show |
POLDIP2 | ENSG00000004142.12 | transcript | ENST00000540200.6 | protein_coding | 4/10 | chr17 | TogoVar | ||||||
POLK_chr5_75506891_75614991 | 75612350 | T | TCCGCCCC others(40): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG02572.hp2 HG02622.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0104 | a0001c0001t0005g0199a0001c0001t0005g0207a0001c0001t0005g0208others(2): Show | 5 | 356 | 0.0140 | 47 | c.*14 others(60): Show |
POLK | ENSG00000122008.16 | transcript | ENST00000241436.9 | protein_coding | 2360 | chr5 | TogoVar | ||||||
POLR1B_chr2_112537465_112584818 | 112540873 | C | CAAAACTC others(40): Show |
upstream_gene_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 1 | 384 | 0.0026 | 47 | c.-16 others(58): Show |
POLR1B | ENSG00000125630.16 | transcript | ENST00000263331.10 | protein_coding | 1591 | chr2 | TogoVar | ||||||
POLR3E_chr16_22292409_22340096 | 22295420 | T | TGGGGGGG others(40): Show |
upstream_gene_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 358 | 0.0028 | 47 | c.-21 others(58): Show |
POLR3E | ENSG00000058600.16 | transcript | ENST00000299853.10 | protein_coding | 1988 | chr16 | TogoVar | ||||||
POR_chr7_75910155_75991855 | 75923082 | T | TCGCCTAA others(40): Show |
intron_variant | MODIFIER | HG03471.hp1 HG03540.hp2 |
a0001 | a0001c0004a0001c0024 | a0001c0004t0001a0001c0024t0001 | a0001c0004t0001g0270a0001c0024t0001g0234 | 2 | 278 | 0.0072 | 47 | c.-14 others(64): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 1/15 | chr7 | TogoVar | ||||||
POR_chr7_75910155_75991855 | 75970938 | T | TTTTTATT others(40): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03471.hp2 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0001a0001c0005t0001 | a0001c0003t0001g0035a0001c0005t0001g0132 | 2 | 278 | 0.0072 | 47 | c.180 others(64): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
POR_chr7_75910155_75991855 | 75988764 | A | AAGGCCGG others(40): Show |
downstream_gene_variant | MODIFIER | HG01517.hp1 | a0008 | a0008c0015 | a0008c0015t0001 | a0008c0015t0001g0269 | 1 | 278 | 0.0036 | 47 | c.*22 others(58): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 1910 | chr7 | TogoVar | ||||||
POR_chr7_75910155_75991855 | 75988765 | A | AGGCCGGG others(40): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 HG02129.hp1 NA18747.hp2 others(1): Show |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0105a0002c0001t0002g0173a0002c0001t0002g0174others(1): Show | 4 | 278 | 0.0144 | 47 | c.*22 others(58): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 1911 | chr7 | TogoVar | ||||||
POR_chr7_75910155_75991855 | 75988765 | A | AGGCGGGG others(40): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 HG02886.hp1 HG03098.hp1 others(2): Show |
a0001 | a0001c0005a0001c0006 | a0001c0005t0001a0001c0006t0001 | a0001c0005t0001g0032a0001c0005t0001g0033a0001c0005t0001g0034others(2): Show | 5 | 278 | 0.0180 | 47 | c.*22 others(58): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 1911 | chr7 | TogoVar | ||||||
POR_chr7_75910155_75991855 | 75989077 | T | TGGAGGGG others(40): Show |
downstream_gene_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0246 | 1 | 278 | 0.0036 | 47 | c.*25 others(58): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 2223 | chr7 | TogoVar | ||||||
POR_chr7_75910155_75991855 | 75989094 | A | AGGGGGGG others(40): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0262 | 1 | 278 | 0.0036 | 47 | c.*26 others(58): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 2240 | chr7 | TogoVar | ||||||
PPARA_chr22_46145526_46248755 | 46205554 | A | ATATATAT others(40): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0186a0001c0001t0018g0187 | 2 | 200 | 0.0100 | 47 | c.208 others(64): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PPEF2_chr4_75854867_75907452 | 75877006 | A | AAAGAAAG others(40): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 270 | 0.0037 | 47 | c.934 others(62): Show |
PPEF2 | ENSG00000156194.19 | transcript | ENST00000286719.12 | protein_coding | 10/16 | chr4 | TogoVar | ||||||
PPEF2_chr4_75854867_75907452 | 75877039 | A | AAAGAAAG others(40): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005 | 1 | 270 | 0.0037 | 47 | c.934 others(62): Show |
PPEF2 | ENSG00000156194.19 | transcript | ENST00000286719.12 | protein_coding | 10/16 | chr4 | TogoVar | ||||||
PPHLN1_chr12_42321167_42447181 | 42360110 | C | CAAAAAAA others(40): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0095 | 1 | 376 | 0.0027 | 47 | c.299 others(64): Show |
PPHLN1 | ENSG00000134283.18 | transcript | ENST00000358314.12 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PPIAL4H_chr1_146339006_146349765 | 146345087 | T | TTTCTTTC others(40): Show |
upstream_gene_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 1 | 416 | 0.0024 | 47 | c.-37 others(56): Show |
PPIAL4H | ENSG00000270339.4 | transcript | ENST00000584068.4 | protein_coding | 323 | chr1 | TogoVar | ||||||
PPL_chr16_4877507_4942148 | 4920345 | G | GAGAGAGA others(40): Show |
intron_variant | MODIFIER | HG00735.hp2 HG00741.hp2 |
a0001a0048 | a0001c0031a0048c0068 | a0001c0031t0001a0048c0068t0001 | a0001c0031t0001g0167a0048c0068t0001g0246 | 2 | 372 | 0.0054 | 47 | c.63- others(62): Show |
PPL | ENSG00000118898.16 | transcript | ENST00000345988.7 | protein_coding | 1/21 | chr16 | TogoVar | ||||||
PPL_chr16_4877507_4942148 | 4920371 | G | GAAAGAAA others(40): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01081.hp1 HG01081.hp2 others(32): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0031a0001c0055others(11): Show | a0001c0001t0001a0001c0031t0001a0001c0055t0001others(12): Show | a0001c0001t0001g0118a0001c0001t0001g0121a0001c0001t0001g0172others(32): Show | 35 | 372 | 0.0941 | 47 | c.63- others(62): Show |
PPL | ENSG00000118898.16 | transcript | ENST00000345988.7 | protein_coding | 1/21 | chr16 | TogoVar | ||||||
PPP3CA_chr4_101018418_101352526 | 101090985 | C | CATATCTG others(40): Show |
intron_variant | MODIFIER | HG02886.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0031 | a0001c0001t0023g0106a0001c0001t0031g0006 | 2 | 192 | 0.0104 | 47 | c.782 others(64): Show |
PPP3CA | ENSG00000138814.17 | transcript | ENST00000394854.8 | protein_coding | 6/13 | chr4 | TogoVar | ||||||
PPP4R3A_chr14_91452508_91515310 | 91507340 | T | TAGTATAT others(40): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030 | 1 | 370 | 0.0027 | 47 | c.142 others(64): Show |
PPP4R3A | ENSG00000100796.18 | transcript | ENST00000554943.6 | protein_coding | 1/14 | chr14 | TogoVar |