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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PIEZO2_chr18_10665247_11154569 | 10886487 | C | CATATATA others(41): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0017a0026 | a0017c0016a0026c0035 | a0017c0016t0003a0026c0035t0001 | a0017c0016t0003g0011 a0026c0035t0001g0010 |
2 | 6 | 0.3333 | 48 | c.330 others(67): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 4/55 | chr18 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 10886487 | C | CATATATA others(41): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0059 | a0001c0059t0003 | a0001c0059t0003g0111 | 1 | 5 | 0.2000 | 48 | c.330 others(67): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 4/55 | chr18 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 10886487 | C | CATATATA others(41): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0087 | 1 | 5 | 0.2000 | 48 | c.330 others(67): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 4/55 | chr18 | TogoVar | |||||||
PIGG_chr4_494210_545200 | 535406 | G | GTGTGTGC others(41): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0006 | a0006c0005 | a0006c0005t0002 | a0006c0005t0002g0052 | 1 | 347 | 0.0029 | 48 | c.273 others(67): Show |
PIGG | ENSG00000174227.16 | transcript | ENST00000453061.7 | protein_coding | 12/12 | chr4 | TogoVar | |||||||
PIGG_chr4_494210_545200 | 535424 | C | CGCCGCGG others(41): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00621.hp2 others(87): Show |
a0002a0003a0004others(4): Show | a0002c0002a0002c0007a0002c0028others(6): Show | a0002c0002t0002a0002c0007t0002a0002c0028t0002others(8): Show | a0002c0002t0002g0017 a0002c0002t0002g0026 a0002c0002t0002g0029 others(81): Show |
90 | 332 | 0.2711 | 48 | c.273 others(67): Show |
PIGG | ENSG00000174227.16 | transcript | ENST00000453061.7 | protein_coding | 12/12 | chr4 | TogoVar | |||||||
PIGG_chr4_494210_545200 | 535424 | C | CGCCGGGG others(41): Show |
intron_variant | MODIFIER | NA18942.hp1 NA18971.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 a0001c0001t0001g0071 |
2 | 244 | 0.0082 | 48 | c.273 others(67): Show |
PIGG | ENSG00000174227.16 | transcript | ENST00000453061.7 | protein_coding | 12/12 | chr4 | TogoVar | |||||||
PIGQ_chr16_564968_589109 | 579458 | A | ATGCCCCG others(41): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0315 | 1 | 380 | 0.0026 | 48 | c.133 others(65): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PIGZ_chr3_196941356_196973833 | 196949005 | T | TCTTCCCC others(41): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02451.hp2 HG02630.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004a0001c0023 | a0001c0001t0001a0001c0004t0001a0001c0023t0001 | a0001c0001t0001g0325 a0001c0004t0001g0056 a0001c0004t0001g0057 others(3): Show |
6 | 183 | 0.0328 | 48 | c.212 others(63): Show |
PIGZ | ENSG00000119227.8 | transcript | ENST00000412723.6 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
PIK3R1_chr5_68210756_68306821 | 68262928 | T | TATACATG others(41): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0004 | a0002c0004t0032 | a0002c0004t0032g0190 | 1 | 290 | 0.0034 | 48 | c.335 others(67): Show |
PIK3R1 | ENSG00000145675.16 | transcript | ENST00000521381.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PIK3R1_chr5_68210756_68306821 | 68263132 | G | GATACATA others(41): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0002 | a0002c0004 | a0002c0004t0007 | a0002c0004t0007g0173 | 1 | 305 | 0.0033 | 48 | c.335 others(67): Show |
PIK3R1 | ENSG00000145675.16 | transcript | ENST00000521381.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PIK3R3_chr1_46035140_46137629 | 46071730 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0030 | 1 | 260 | 0.0038 | 48 | c.315 others(65): Show |
PIK3R3 | ENSG00000117461.15 | transcript | ENST00000262741.10 | protein_coding | 3/9 | chr1 | TogoVar | |||||||
PIMREG_chr17_6439455_6456469 | 6453032 | G | GTCTTTCT others(41): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 HG01167.hp1 HG02109.hp2 others(13): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0004a0001c0002t0010a0001c0002t0014others(1): Show | a0001c0002t0004g0008 a0001c0002t0004g0017 a0001c0002t0004g0051 others(7): Show |
16 | 222 | 0.0721 | 48 | c.*26 others(59): Show |
PIMREG | ENSG00000129195.16 | transcript | ENST00000572447.6 | protein_coding | 1564 | chr17 | TogoVar | |||||||
PIMREG_chr17_6439455_6456469 | 6453032 | G | GTCTTTCT others(41): Show |
downstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0008 | 1 | 207 | 0.0048 | 48 | c.*26 others(59): Show |
PIMREG | ENSG00000129195.16 | transcript | ENST00000572447.6 | protein_coding | 1564 | chr17 | TogoVar | |||||||
PIP4K2A_chr10_22529854_22719578 | 22664048 | C | CATATATA others(41): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0002 | a0002c0006 | a0002c0006t0009 | a0002c0006t0009g0010 | 1 | 176 | 0.0057 | 48 | c.144 others(67): Show |
PIP4K2A | ENSG00000150867.14 | transcript | ENST00000376573.9 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
PIP4K2A_chr10_22529854_22719578 | 22664048 | C | CATATATA others(41): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0005 | a0001c0005t0010 | a0001c0005t0010g0013 | 1 | 176 | 0.0057 | 48 | c.144 others(67): Show |
PIP4K2A | ENSG00000150867.14 | transcript | ENST00000376573.9 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
PIP4K2A_chr10_22529854_22719578 | 22664078 | T | TACACATA others(41): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0002 | a0002c0006 | a0002c0006t0003 | a0002c0006t0003g0002 | 1 | 203 | 0.0049 | 48 | c.144 others(67): Show |
PIP4K2A | ENSG00000150867.14 | transcript | ENST00000376573.9 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
PITPNC1_chr17_67372281_67702256 | 67494185 | T | TTCTCTTT others(41): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0048 | 1 | 58 | 0.0172 | 48 | c.49- others(65): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67494185 | T | TTCTTTCT others(41): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0067 | a0001c0001t0067g0045 | 1 | 58 | 0.0172 | 48 | c.49- others(65): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67494185 | T | TTCTTTTT others(41): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01993.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014a0001c0001t0050 | a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0014g0034 others(1): Show |
4 | 61 | 0.0656 | 48 | c.49- others(65): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67494185 | T | TTTTCTTT others(41): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0017 | a0001c0001t0007g0126 a0001c0001t0017g0062 |
2 | 59 | 0.0339 | 48 | c.49- others(65): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNM3_chr17_6446263_6561555 | 6453032 | G | GTCTTTCT others(41): Show |
3_prime_UTR_variant | MODIFIER | HG01167.hp2 HG02280.hp1 HG02622.hp1 others(10): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0007a0001c0001t0019a0001c0002t0042others(5): Show | a0001c0001t0007g0036 a0001c0001t0007g0178 a0001c0001t0019g0122 others(10): Show |
13 | 157 | 0.0828 | 48 | c.*22 others(59): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 20/20 | 2305 | chr17 | TogoVar | ||||||
PITPNM3_chr17_6446263_6561555 | 6505195 | A | AATATATA others(41): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0182 | 1 | 73 | 0.0137 | 48 | c.227 others(65): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 3/19 | chr17 | TogoVar | |||||||
PIWIL3_chr22_24714034_24779720 | 24757637 | C | CACATATA others(41): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00558.hp2 others(54): Show |
a0001a0010a0014others(1): Show | a0001c0001a0001c0006a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0009a0001c0006t0001others(6): Show | a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 others(53): Show |
57 | 276 | 0.2065 | 48 | c.355 others(63): Show |
PIWIL3 | ENSG00000184571.14 | transcript | ENST00000616349.5 | protein_coding | 4/20 | chr22 | TogoVar | |||||||
PIWIL3_chr22_24714034_24779720 | 24757659 | T | TACACACA others(41): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0326 | 1 | 88 | 0.0114 | 48 | c.355 others(63): Show |
PIWIL3 | ENSG00000184571.14 | transcript | ENST00000616349.5 | protein_coding | 4/20 | chr22 | TogoVar | |||||||
PIWIL3_chr22_24714034_24779720 | 24757659 | T | TACACACA others(41): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02027.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 a0001c0001t0001g0249 |
2 | 89 | 0.0225 | 48 | c.355 others(63): Show |
PIWIL3 | ENSG00000184571.14 | transcript | ENST00000616349.5 | protein_coding | 4/20 | chr22 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71948261 | T | TTAGTAGA others(41): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0004 | a0004c0009 | a0004c0009t0001 | a0004c0009t0001g0106 | 1 | 306 | 0.0033 | 48 | c.361 others(65): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 21/29 | chr16 | TogoVar | |||||||
PKD2L1_chr10_100283149_100335228 | 100314975 | G | GGGAAGGG others(41): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0201 | 1 | 277 | 0.0036 | 48 | c.349 others(67): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
PKDCC_chr2_42043021_42063517 | 42044175 | G | GAAGGAAG others(41): Show |
upstream_gene_variant | MODIFIER | HG02300.hp1 HG02451.hp2 HG03471.hp2 others(1): Show |
a0002a0006 | a0002c0002a0002c0014a0006c0010 | a0002c0002t0001a0002c0002t0002a0002c0014t0002others(1): Show | a0002c0002t0001g0017 a0002c0002t0002g0029 a0002c0014t0002g0002 others(1): Show |
4 | 188 | 0.0213 | 48 | c.-40 others(59): Show |
PKDCC | ENSG00000162878.13 | transcript | ENST00000294964.6 | protein_coding | 3845 | chr2 | TogoVar | |||||||
PKDCC_chr2_42043021_42063517 | 42044175 | G | GAAGGAAG others(41): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 HG02970.hp2 HG03130.hp2 others(3): Show |
a0001a0002 | a0001c0004a0002c0002 | a0001c0004t0007a0002c0002t0002 | a0001c0004t0007g0016 a0001c0004t0007g0085 a0002c0002t0002g0006 others(1): Show |
6 | 190 | 0.0316 | 48 | c.-40 others(59): Show |
PKDCC | ENSG00000162878.13 | transcript | ENST00000294964.6 | protein_coding | 3845 | chr2 | TogoVar | |||||||
PKDCC_chr2_42043021_42063517 | 42044175 | G | GAAGGAAG others(41): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 HG02055.hp1 HG02922.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 a0002c0002t0002g0006 a0002c0002t0002g0014 |
7 | 191 | 0.0366 | 48 | c.-40 others(59): Show |
PKDCC | ENSG00000162878.13 | transcript | ENST00000294964.6 | protein_coding | 3845 | chr2 | TogoVar | |||||||
PKDCC_chr2_42043021_42063517 | 42044175 | G | GAAGGAAG others(41): Show |
upstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0005 | 1 | 185 | 0.0054 | 48 | c.-40 others(59): Show |
PKDCC | ENSG00000162878.13 | transcript | ENST00000294964.6 | protein_coding | 3845 | chr2 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51981323 | C | CTCTCCCT others(41): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0011 | a0011c0017 | a0011c0017t0005 | a0011c0017t0005g0071 | 1 | 121 | 0.0083 | 48 | c.575 others(69): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51981329 | C | CTCTCCCT others(41): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02155.hp2 HG02451.hp2 others(4): Show |
a0001a0002a0006others(1): Show | a0001c0002a0001c0009a0001c0082others(3): Show | a0001c0002t0009a0001c0009t0001a0001c0082t0001others(3): Show | a0001c0002t0009g0099 a0001c0002t0009g0100 a0001c0009t0001g0103 others(4): Show |
7 | 106 | 0.0660 | 48 | c.575 others(69): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51981335 | C | CTCTCCCT others(41): Show |
intron_variant | MODIFIER | HG01106.hp1 HG03098.hp2 NA19054.hp1 |
a0001a0005 | a0001c0002a0005c0037a0005c0038 | a0001c0002t0001a0005c0037t0001a0005c0038t0001 | a0001c0002t0001g0107 a0005c0037t0001g0038 a0005c0038t0001g0034 |
3 | 126 | 0.0238 | 48 | c.575 others(69): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | |||||||
PKIA_chr8_78511340_78610267 | 78524024 | T | TTATATAT others(41): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0029a0001c0001t0030 | a0001c0001t0029g0015 a0001c0001t0030g0013 |
2 | 119 | 0.0168 | 48 | c.-15 others(67): Show |
PKIA | ENSG00000171033.13 | transcript | ENST00000396418.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PKNOX2_chr11_125159751_125438389 | 125178549 | A | AGAAGGAA others(41): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0184 | 1 | 218 | 0.0046 | 48 | c.-20 others(69): Show |
PKNOX2 | ENSG00000165495.16 | transcript | ENST00000298282.14 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PKP1_chr1_201278506_201337989 | 201316121 | T | TGGACGGA others(41): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01256.hp1 NA18747.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004 | a0001c0002t0002g0073 a0001c0002t0002g0189 a0001c0002t0004g0097 others(1): Show |
4 | 315 | 0.0127 | 48 | c.702 others(63): Show |
PKP1 | ENSG00000081277.13 | transcript | ENST00000367324.8 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 400323 | T | TCGGTCCC others(41): Show |
disruptive_inframe_insertion | MODERATE | NA18971.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0139 | 1 | 214 | 0.0047 | 48 | c.144 others(60): Show |
p.Lys others(61): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 7/13 | 1571/2817 | 1487/2394 | 496/797 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
PKP3_chr11_389209_409908 | 400929 | C | CACCCCGC others(41): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0007 | a0007c0029 | a0007c0029t0001 | a0007c0029t0001g0117 | 1 | 214 | 0.0047 | 48 | c.173 others(65): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | chr11 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 401566 | G | GCCCCGCT others(41): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0166 | 1 | 190 | 0.0053 | 48 | c.173 others(65): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | chr11 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 402827 | C | CCGCCCCG others(41): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01975.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0164 a0001c0003t0001g0098 |
2 | 201 | 0.0100 | 48 | c.173 others(65): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | chr11 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 402828 | G | GCCCCGCT others(41): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0141 | 1 | 134 | 0.0075 | 48 | c.173 others(65): 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(41): Show |
intron_variant | MODIFIER | HG01496.hp1 NA19030.hp1 |
a0001a0006 | a0001c0002a0006c0031 | a0001c0002t0001a0006c0031t0001 | a0001c0002t0001g0125 a0006c0031t0001g0163 |
2 | 135 | 0.0148 | 48 | c.173 others(65): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 402837 | A | ACCCCGGG others(41): Show |
intron_variant | MODIFIER | HG02074.hp1 HG03834.hp1 |
a0001a0017 | a0001c0002a0017c0027 | a0001c0002t0001a0017c0027t0001 | a0001c0002t0001g0134 a0017c0027t0001g0107 |
2 | 205 | 0.0098 | 48 | c.173 others(65): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 403015 | C | CCCCCCGC others(41): Show |
intron_variant | MODIFIER | NA18971.hp2 NA19030.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0125 a0001c0003t0001g0139 |
2 | 149 | 0.0134 | 48 | c.173 others(63): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PLA2G4B_chr15_41833847_41853143 | 41847824 | G | GGCAGTGC others(41): Show |
3_prime_UTR_variant | MODIFIER | HG01884.hp2 HG02486.hp2 HG02615.hp1 others(3): Show |
a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0009 a0001c0005t0002g0062 a0001c0005t0002g0063 |
6 | 404 | 0.0149 | 48 | c.*11 others(55): Show |
PLA2G4B | ENSG00000243708.11 | transcript | ENST00000458483.4 | protein_coding | 20/20 | 12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PLA2G4C_chr19_48042846_48115817 | 48105941 | C | CCTTTCTT others(41): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0078 | 1 | 197 | 0.0051 | 48 | c.9-4 others(59): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 2/16 | chr19 | TogoVar | |||||||
PLA2G4C_chr19_48042846_48115817 | 48105945 | C | CCTTCCTT others(41): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 120 | 0.0083 | 48 | c.9-5 others(59): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 2/16 | chr19 | TogoVar | |||||||
PLA2G4C_chr19_48042846_48115817 | 48105947 | C | CTCCCTCC others(41): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 108 | 0.0093 | 48 | c.9-5 others(59): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 2/16 | chr19 | TogoVar | |||||||
PLAAT3_chr11_63569462_63619433 | 63615022 | A | ATATATAT others(41): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 HG01081.hp1 HG01175.hp1 others(26): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0006t0002 | a0001c0001t0002g0001 a0001c0001t0002g0010 a0001c0001t0002g0025 others(26): Show |
29 | 283 | 0.1025 | 48 | c.-69 others(57): Show |
PLAAT3 | ENSG00000176485.14 | transcript | ENST00000415826.3 | protein_coding | 590 | chr11 | TogoVar |