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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PAQR5_chr15_69293912_69412780 | 69300896 | CCTTCCTT others(47): Show |
C | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0053 | 1 | 284 | 0.0035 | -54 | c.-27 others(73): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69382777 | CATATATA others(47): Show |
C | intron_variant | MODIFIER | HG02630.hp2 HG03130.hp1 HG06807.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0018 | a0001c0001t0006g0229 a0001c0001t0006g0244 a0001c0001t0006g0245 others(1): Show |
4 | 284 | 0.0141 | -54 | c.180 others(71): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PARP12_chr7_140018749_140067951 | 140035993 | GAGGAGGA others(47): Show |
G | intron_variant | MODIFIER | NA18522.hp1 NA19240.hp2 |
a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0063 a0002c0004t0003g0064 |
2 | 360 | 0.0056 | -54 | c.132 others(73): Show |
PARP12 | ENSG00000059378.13 | transcript | ENST00000263549.8 | protein_coding | 7/11 | chr7 | TogoVar | |||||||
PATL1_chr11_59631716_59674037 | 59672312 | ATATATAT others(47): Show |
A | upstream_gene_variant | MODIFIER | HG01109.hp2 HG02145.hp2 HG02965.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0005a0002c0003t0005 | a0001c0001t0001g0048 a0001c0002t0005g0014 a0001c0002t0005g0038 others(2): Show |
6 | 276 | 0.0217 | -54 | c.-34 others(65): Show |
PATL1 | ENSG00000166889.14 | transcript | ENST00000300146.10 | protein_coding | 3276 | chr11 | TogoVar | |||||||
PAWR_chr12_79579879_79695964 | 79613947 | ATATATAT others(47): Show |
A | intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0156 | 1 | 256 | 0.0039 | -54 | c.649 others(69): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 3/6 | chr12 | TogoVar | |||||||
PAXBP1_chr21_32728899_32776755 | 32771895 | AGAGAGAG others(47): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG02135.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 a0001c0001t0001g0103 a0001c0001t0001g0157 |
3 | 360 | 0.0083 | -54 | c.-28 others(63): Show |
PAXBP1 | ENSG00000159086.15 | transcript | ENST00000331923.9 | protein_coding | 141 | chr21 | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45910203 | ATACGGAC others(47): Show |
A | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0216 | 1 | 292 | 0.0034 | -54 | c.472 others(69): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 54307038 | GTGTATAT others(47): Show |
G | intron_variant | MODIFIER | HG00738.hp2 | a0007 | a0007c0032 | a0007c0032t0001 | a0007c0032t0001g0021 | 1 | 102 | 0.0098 | -54 | c.876 others(73): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 8/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 54307050 | ATATATAT others(47): Show |
A | intron_variant | MODIFIER | HG01934.hp1 HG03098.hp2 HG03139.hp2 others(1): Show |
a0001a0027a0034 | a0001c0001a0027c0018a0034c0022 | a0001c0001t0001a0027c0018t0001a0034c0022t0001 | a0001c0001t0001g0006 a0001c0001t0001g0043 a0027c0018t0001g0004 others(1): Show |
4 | 102 | 0.0392 | -54 | c.876 others(73): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 8/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 54307038 | GTGTATAT others(47): Show |
G | intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 94 | 0.0106 | -54 | c.876 others(73): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 8/32 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 54307050 | ATATATAT others(47): Show |
A | intron_variant | MODIFIER | HG01934.hp1 HG03098.hp2 HG03139.hp2 others(1): Show |
a0001a0002a0020 | a0001c0001a0002c0002a0020c0022 | a0001c0001t0001a0002c0002t0001a0020c0022t0001 | a0001c0001t0001g0006 a0001c0001t0001g0040 a0002c0002t0001g0052 others(1): Show |
4 | 94 | 0.0426 | -54 | c.876 others(73): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 8/32 | chr10 | TogoVar | |||||||
PCDHB10_chr5_141187353_141200647 | 141198965 | CTAAATCA others(47): Show |
C | downstream_gene_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 456 | 0.0022 | -54 | c.*40 others(65): Show |
PCDHB10 | ENSG00000120324.9 | transcript | ENST00000239446.6 | protein_coding | 3319 | chr5 | TogoVar | |||||||
PCGF3_chr4_700832_775089 | 745157 | CCGGGGTC others(47): Show |
C | intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0304 | 1 | 366 | 0.0027 | -54 | c.462 others(69): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCLO_chr7_82749012_83167884 | 83038033 | ATATATTT others(47): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG01243.hp1 HG02486.hp1 others(5): Show |
a0001a0013a0017others(3): Show | a0001c0001a0013c0082a0013c0102others(5): Show | a0001c0001t0001a0013c0082t0002a0013c0102t0002others(5): Show | a0001c0001t0001g0148 a0013c0082t0002g0114 a0013c0102t0002g0082 others(5): Show |
8 | 188 | 0.0426 | -54 | c.330 others(75): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | |||||||
PCMTD2_chr20_64250748_64281226 | 64270719 | AAATGGTA others(47): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp1 HG00735.hp1 others(40): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(4): Show | a0001c0001t0001g0022 a0001c0001t0001g0033 a0001c0001t0001g0034 others(25): Show |
43 | 332 | 0.1295 | -54 | c.707 others(71): Show |
PCMTD2 | ENSG00000203880.13 | transcript | ENST00000308824.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PCMTD2_chr20_64250748_64281226 | 64270856 | CGTGAGGT others(47): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00621.hp2 HG00642.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0054 others(7): Show |
20 | 332 | 0.0602 | -54 | c.707 others(71): Show |
PCMTD2 | ENSG00000203880.13 | transcript | ENST00000308824.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PCMTD2_chr20_64250748_64281226 | 64270910 | TGTGAGGT others(47): Show |
T | intron_variant | MODIFIER | HG02015.hp2 HG02071.hp1 HG02080.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0003a0002c0004t0001 | a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0141 others(5): Show |
10 | 332 | 0.0301 | -54 | c.707 others(71): Show |
PCMTD2 | ENSG00000203880.13 | transcript | ENST00000308824.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PCMTD2_chr20_64250748_64281226 | 64271253 | TACGTACA others(47): Show |
T | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01884.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0058 a0001c0001t0001g0120 a0001c0001t0001g0122 others(6): Show |
11 | 332 | 0.0331 | -54 | c.707 others(71): Show |
PCMTD2 | ENSG00000203880.13 | transcript | ENST00000308824.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PCNX1_chr14_70902459_71120382 | 70917471 | TATGTCTC others(47): Show |
T | intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0106 | 1 | 352 | 0.0028 | -54 | c.153 others(71): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/35 | chr14 | TogoVar | |||||||
PCSK2_chr20_17222040_17489578 | 17468036 | ATAGATGG others(47): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG00609.hp1 others(91): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0120 others(91): Show |
94 | 274 | 0.3431 | -54 | c.143 others(73): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PCYT1A_chr3_196229368_196292726 | 196251115 | GATACACC others(47): Show |
G | intron_variant | MODIFIER | HG02723.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0059a0001c0001t0060 | a0001c0001t0059g0136 a0001c0001t0060g0135 |
2 | 310 | 0.0065 | -54 | c.218 others(71): Show |
PCYT1A | ENSG00000161217.12 | transcript | ENST00000431016.6 | protein_coding | 3/8 | chr3 | TogoVar | |||||||
PDE4D_chr5_58964038_59898726 | 59574059 | AAAATATA others(47): Show |
A | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0013 | 1 | 74 | 0.0135 | -54 | c.455 others(75): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | |||||||
PDE4D_chr5_58964038_59898726 | 59574091 | TATAAATA others(47): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01071.hp1 others(47): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(47): Show |
50 | 74 | 0.6757 | -54 | c.455 others(75): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | |||||||
PDE4D_chr5_58964038_59898726 | 59762479 | TATGTGTA others(47): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02895.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0046 a0001c0001t0003g0044 |
2 | 74 | 0.0270 | -54 | c.455 others(75): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | |||||||
PDE6B_chr4_620573_675782 | 669338 | TTCCCCTA others(47): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02622.hp1 |
a0001 | a0001c0009 | a0001c0009t0009 | a0001c0009t0009g0050 a0001c0009t0009g0263 a0001c0009t0009g0264 |
3 | 308 | 0.0097 | -54 | c.250 others(71): Show |
PDE6B | ENSG00000133256.13 | transcript | ENST00000496514.6 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PDGFRA_chr4_54224293_54303245 | 54271745 | ACTCTTTT others(47): Show |
A | intron_variant | MODIFIER | HG01258.hp1 HG01261.hp2 HG02698.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 a0001c0001t0001g0209 a0001c0001t0001g0251 |
3 | 300 | 0.0100 | -54 | c.123 others(71): Show |
PDGFRA | ENSG00000134853.12 | transcript | ENST00000257290.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PDIA6_chr2_10778391_10817785 | 10815103 | TGGAAATG others(47): Show |
T | upstream_gene_variant | MODIFIER | HG01934.hp1 NA19030.hp2 |
a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0254 a0001c0005t0003g0255 |
2 | 342 | 0.0059 | -54 | c.-24 others(65): Show |
PDIA6 | ENSG00000143870.13 | transcript | ENST00000272227.8 | protein_coding | 2319 | chr2 | TogoVar | |||||||
PDLIM7_chr5_177478394_177502604 | 177486771 | TGGGACTA others(47): Show |
T | intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0146 | 1 | 440 | 0.0023 | -54 | c.105 others(73): Show |
PDLIM7 | ENSG00000196923.14 | transcript | ENST00000355841.7 | protein_coding | 10/12 | chr5 | TogoVar | |||||||
PDZRN4_chr12_41183320_41579745 | 41402098 | ATATATAT others(47): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02622.hp2 |
a0001a0015 | a0001c0001a0015c0039 | a0001c0001t0001a0015c0039t0001 | a0001c0001t0001g0151 a0015c0039t0001g0043 |
2 | 206 | 0.0097 | -54 | c.844 others(75): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PDZRN4_chr12_41183320_41579745 | 41402608 | TATATATA others(47): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02970.hp1 others(1): Show |
a0002a0005 | a0002c0024a0005c0007 | a0002c0024t0002a0005c0007t0001 | a0002c0024t0002g0133 a0002c0024t0002g0134 a0005c0007t0001g0203 others(1): Show |
4 | 206 | 0.0194 | -54 | c.844 others(75): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PEAK3_chr19_2269631_2287175 | 2278344 | AGAGGCTG others(47): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00597.hp1 others(70): Show |
a0002a0003a0014others(3): Show | a0002c0002a0003c0003a0014c0016others(3): Show | a0002c0002t0005a0003c0003t0001a0003c0003t0002others(12): Show | a0002c0002t0005g0020 a0002c0002t0005g0182 a0003c0003t0001g0069 others(29): Show |
73 | 454 | 0.1608 | -54 | c.612 others(69): Show |
PEAK3 | ENSG00000188305.6 | transcript | ENST00000342063.5 | protein_coding | 3/3 | chr19 | TogoVar | |||||||
PER2_chr2_238239044_238293610 | 238268401 | CACCAGTG others(47): Show |
C | intron_variant | MODIFIER | NA18979.hp1 | a0019 | a0019c0018 | a0019c0018t0001 | a0019c0018t0001g0094 | 1 | 370 | 0.0027 | -54 | c.825 others(69): Show |
PER2 | ENSG00000132326.13 | transcript | ENST00000254657.8 | protein_coding | 7/22 | chr2 | TogoVar | |||||||
PER3_chr1_7779291_7850177 | 7829912 | GAGAATCC others(47): Show |
G | conservative_inframe_deletion | MODERATE | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(296): Show |
a0001a0003a0004others(10): Show | a0001c0001a0001c0003a0001c0004others(20): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(32): Show | a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0015 others(279): Show |
299 | 410 | 0.7293 | -54 | c.304 others(63): Show |
p.Ala others(15): Show |
PER3 | ENSG00000049246.15 | transcript | ENST00000377532.8 | protein_coding | 19/22 | 3356/6365 | 3046/3633 | 1016/1210 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
PER3_chr1_7779291_7850177 | 7830003 | CAGGATCG others(47): Show |
C | disruptive_inframe_deletion | MODERATE | HG02257.hp2 | a0011 | a0011c0025 | a0011c0025t0001 | a0011c0025t0001g0208 | 1 | 410 | 0.0024 | -54 | c.305 others(63): Show |
p.Gly others(15): Show |
PER3 | ENSG00000049246.15 | transcript | ENST00000377532.8 | protein_coding | 19/22 | 3367/6365 | 3057/3633 | 1019/1210 | chr1 | TogoVar | |||
PFN3_chr5_177395109_177405661 | 177396461 | GCTCTCCC others(47): Show |
G | downstream_gene_variant | MODIFIER | HG02717.hp1 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 416 | 0.0048 | -54 | c.*36 others(65): Show |
PFN3 | ENSG00000196570.3 | transcript | ENST00000358571.3 | protein_coding | 3647 | chr5 | TogoVar | |||||||
PGM2L1_chr11_74325316_74403433 | 74402679 | TATATAAT others(47): Show |
T | upstream_gene_variant | MODIFIER | NA18966.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0227 | 1 | 380 | 0.0026 | -54 | c.-45 others(65): Show |
PGM2L1 | ENSG00000165434.8 | transcript | ENST00000298198.5 | protein_coding | 4247 | chr11 | TogoVar | |||||||
PHACTR1_chr6_12711767_13292837 | 13064564 | ATATATAT others(47): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG02486.hp2 HG02572.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0020 a0001c0001t0001g0029 others(12): Show |
15 | 108 | 0.1389 | -54 | c.415 others(73): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHF20_chr20_35767015_35955370 | 35901905 | AGTGTAAA others(47): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG00642.hp2 others(42): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0007a0001c0005t0002a0002c0002t0002others(4): Show | a0001c0001t0007g0112 a0001c0001t0007g0179 a0001c0001t0007g0180 others(42): Show |
45 | 206 | 0.2185 | -54 | c.156 others(73): Show |
PHF20 | ENSG00000025293.17 | transcript | ENST00000374012.8 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PI4K2A_chr10_97635671_97681434 | 97678880 | GGTGTGTG others(47): Show |
G | downstream_gene_variant | MODIFIER | HG02300.hp2 HG02647.hp2 HG04199.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0012a0001c0003t0003others(1): Show | a0001c0001t0001g0170 a0001c0001t0001g0226 a0001c0001t0012g0282 others(2): Show |
5 | 350 | 0.0143 | -54 | c.*51 others(65): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 2447 | chr10 | TogoVar | |||||||
PIBF1_chr13_72777133_73021461 | 72844728 | TACACACA others(47): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02280.hp2 HG02451.hp2 |
a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0344 a0001c0006t0002g0345 a0001c0006t0002g0346 |
3 | 346 | 0.0087 | -54 | c.122 others(73): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PID1_chr2_229018973_229276287 | 229139027 | GAAAGAAA others(47): Show |
G | intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0234 | 1 | 256 | 0.0039 | -54 | c.177 others(73): Show |
PID1 | ENSG00000153823.19 | transcript | ENST00000392055.8 | protein_coding | 2/2 | chr2 | TogoVar | |||||||
PID1_chr2_229018973_229276287 | 229139035 | GAAAGAGA others(47): Show |
G | intron_variant | MODIFIER | HG02976.hp1 HG03225.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0022 | a0001c0001t0003g0136 a0001c0002t0022g0218 |
2 | 256 | 0.0078 | -54 | c.177 others(73): Show |
PID1 | ENSG00000153823.19 | transcript | ENST00000392055.8 | protein_coding | 2/2 | chr2 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 10720391 | GTGTGTGT others(47): Show |
G | intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0028 | a0001c0028t0001 | a0001c0028t0001g0031 | 1 | 158 | 0.0063 | -54 | c.503 others(73): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 36/55 | chr18 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 10886326 | ATATATAT others(47): Show |
A | intron_variant | MODIFIER | HG02717.hp2 | a0020 | a0020c0066 | a0020c0066t0002 | a0020c0066t0002g0119 | 1 | 158 | 0.0063 | -54 | c.330 others(73): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 4/55 | chr18 | TogoVar | |||||||
PIGN_chr18_62036164_62192056 | 62125103 | CGTTTGTA others(47): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00735.hp1 others(19): Show |
a0001 | a0001c0005 | a0001c0005t0010a0001c0005t0022a0001c0005t0029others(7): Show | a0001c0005t0010g0001 a0001c0005t0010g0117 a0001c0005t0010g0121 others(18): Show |
22 | 342 | 0.0643 | -54 | c.117 others(75): Show |
PIGN | ENSG00000197563.11 | transcript | ENST00000640252.2 | protein_coding | 14/30 | chr18 | TogoVar | |||||||
PIK3C3_chr18_41950234_42092830 | 42076093 | TATATATA others(47): Show |
T | intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0037 | 1 | 340 | 0.0029 | -54 | c.265 others(73): Show |
PIK3C3 | ENSG00000078142.14 | transcript | ENST00000262039.9 | protein_coding | 24/24 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PIK3R1_chr5_68210756_68306821 | 68262746 | TAGATACA others(47): Show |
T | intron_variant | MODIFIER | HG02615.hp1 HG02976.hp1 HG03516.hp2 |
a0001 | a0001c0008a0001c0009 | a0001c0008t0045a0001c0009t0045a0001c0009t0098 | a0001c0008t0045g0123 a0001c0009t0045g0285 a0001c0009t0098g0277 |
3 | 308 | 0.0097 | -54 | c.335 others(73): Show |
PIK3R1 | ENSG00000145675.16 | transcript | ENST00000521381.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PIP4K2A_chr10_22529854_22719578 | 22664100 | TATACATA others(47): Show |
T | intron_variant | MODIFIER | NA18963.hp1 | a0002 | a0002c0003 | a0002c0003t0009 | a0002c0003t0009g0149 | 1 | 206 | 0.0049 | -54 | c.144 others(73): Show |
PIP4K2A | ENSG00000150867.14 | transcript | ENST00000376573.9 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
PITPNA_chr17_1512718_1567792 | 1551033 | TGGGACAC others(47): Show |
T | intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 368 | 0.0027 | -54 | c.197 others(71): Show |
PITPNA | ENSG00000174238.16 | transcript | ENST00000313486.12 | protein_coding | 3/11 | chr17 | TogoVar | |||||||
PITPNM3_chr17_6446263_6561555 | 6560715 | TTCCTCCT others(47): Show |
T | upstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0146 | 1 | 218 | 0.0046 | -54 | c.-43 others(65): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 4161 | chr17 | TogoVar |