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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PJA2_chr5_109329722_109414974 | 109340621 | T | TCTCCCTC others(14): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 346 | 0.0029 | 21 | c.200 others(40): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 9/9 | chr5 | TogoVar | ||||||
PJA2_chr5_109329722_109414974 | 109372905 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00597.hp2 NA18982.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0018a0002c0002t0001g0310 | 2 | 346 | 0.0058 | 21 | c.128 others(40): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 4/9 | chr5 | TogoVar | ||||||
PJA2_chr5_109329722_109414974 | 109382610 | G | GGATGAGG others(14): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0336 | 1 | 346 | 0.0029 | 21 | c.31+ others(34): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 2/9 | chr5 | TogoVar | ||||||
PJVK_chr2_178446378_178467102 | 178461584 | C | CTTTTTTT others(14): Show |
3_prime_UTR_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0073 | 1 | 408 | 0.0025 | 21 | c.*32 others(30): Show |
PJVK | ENSG00000204311.15 | transcript | ENST00000644580.2 | protein_coding | 7/7 | 329 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
PKD1L1_chr7_47769614_47953466 | 47880284 | A | ATATATTT others(14): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0034 | a0034c0047 | a0034c0047t0003 | a0034c0047t0003g0061 | 1 | 306 | 0.0033 | 21 | c.352 others(38): Show |
PKD1L1 | ENSG00000158683.10 | transcript | ENST00000289672.7 | protein_coding | 21/56 | chr7 | TogoVar | ||||||
PKD1L1_chr7_47769614_47953466 | 47880284 | A | ATATTTTT others(14): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0016 | a0016c0142 | a0016c0142t0003 | a0016c0142t0003g0237 | 1 | 306 | 0.0033 | 21 | c.352 others(38): Show |
PKD1L1 | ENSG00000158683.10 | transcript | ENST00000289672.7 | protein_coding | 21/56 | chr7 | TogoVar | ||||||
PKD2L1_chr10_100283149_100335228 | 100306855 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0224 | 1 | 306 | 0.0033 | 21 | c.350 others(38): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
PKHD1L1_chr8_109357461_109542207 | 109410726 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02055.hp2 HG02145.hp1 others(3): Show |
a0002a0007a0026others(1): Show | a0002c0002a0007c0008a0026c0016others(1): Show | a0002c0002t0001a0002c0002t0013a0007c0008t0001others(3): Show | a0002c0002t0001g0093a0002c0002t0013g0113a0007c0008t0001g0090others(3): Show | 6 | 282 | 0.0213 | 21 | c.208 others(38): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PKHD1L1_chr8_109357461_109542207 | 109503268 | G | GGACTCCA others(14): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(276): Show |
a0001a0002a0003others(67): Show | a0001c0001a0001c0020a0001c0049others(79): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0010others(102): Show | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(273): Show | 279 | 282 | 0.9894 | 21 | c.108 others(42): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 67/77 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PKHD1L1_chr8_109357461_109542207 | 109538047 | A | ATTTTTTT others(14): Show |
downstream_gene_variant | MODIFIER | HG03540.hp1 | a0056 | a0056c0076 | a0056c0076t0022 | a0056c0076t0022g0106 | 1 | 282 | 0.0036 | 21 | c.*79 others(32): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 841 | chr8 | TogoVar | ||||||
PKHD1_chr6_51610299_52092613 | 51766615 | A | ATATTTTT others(14): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00738.hp1 HG01243.hp2 others(12): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0022a0002c0021others(10): Show | a0001c0002t0001a0001c0022t0001a0002c0021t0004others(10): Show | a0001c0002t0001g0083a0001c0022t0001g0132a0002c0021t0004g0128others(12): Show | 15 | 134 | 0.1119 | 21 | c.864 others(40): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 55/66 | chr6 | TogoVar | ||||||
PKHD1_chr6_51610299_52092613 | 51950220 | A | AAAAAAAT others(14): Show |
intron_variant | MODIFIER | NA19001.hp2 | a0004 | a0004c0008 | a0004c0008t0004 | a0004c0008t0004g0045 | 1 | 134 | 0.0075 | 21 | c.590 others(40): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 36/66 | chr6 | TogoVar | ||||||
PKHD1_chr6_51610299_52092613 | 51950220 | A | AAAAATAT others(14): Show |
intron_variant | MODIFIER | HG01496.hp1 HG01496.hp2 HG02683.hp1 |
a0002a0003a0004 | a0002c0004a0003c0036a0004c0008 | a0002c0004t0010a0003c0036t0001a0004c0008t0003 | a0002c0004t0010g0101a0003c0036t0001g0042a0004c0008t0003g0003 | 3 | 134 | 0.0224 | 21 | c.590 others(40): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 36/66 | chr6 | TogoVar | ||||||
PKN1_chr19_14428306_14476859 | 14439913 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0262 | 1 | 376 | 0.0027 | 21 | c.22- others(36): Show |
PKN1 | ENSG00000123143.13 | transcript | ENST00000242783.11 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PKN3_chr9_128697503_128725916 | 128717117 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01074.hp2 HG01258.hp1 others(11): Show |
a0001 | a0001c0001a0001c0018 | a0001c0001t0001a0001c0018t0001 | a0001c0001t0001g0019a0001c0001t0001g0042a0001c0001t0001g0148others(8): Show | 14 | 360 | 0.0389 | 21 | c.198 others(38): Show |
PKN3 | ENSG00000160447.7 | transcript | ENST00000291906.5 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PKNOX1_chr21_42969562_43038931 | 42987404 | A | AAAAATAT others(14): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0039 | 1 | 362 | 0.0028 | 21 | c.-57 others(40): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PKNOX1_chr21_42969562_43038931 | 43010998 | T | TGTGTCTG others(14): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0136 | 1 | 362 | 0.0028 | 21 | c.351 others(36): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PKNOX1_chr21_42969562_43038931 | 43035904 | A | AAATAAAT others(14): Show |
downstream_gene_variant | MODIFIER | HG02015.hp2 HG02257.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0127a0001c0001t0002g0221 | 2 | 362 | 0.0055 | 21 | c.*58 others(32): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1974 | chr21 | TogoVar | ||||||
PKP2_chr12_32785755_32901777 | 32846745 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0234 | 1 | 342 | 0.0029 | 21 | c.137 others(40): Show |
PKP2 | ENSG00000057294.18 | transcript | ENST00000340811.9 | protein_coding | 5/12 | chr12 | TogoVar | ||||||
PLA2G2C_chr1_20158055_20191518 | 20190663 | G | GCACATGA others(14): Show |
upstream_gene_variant | MODIFIER | NA18982.hp2 NA19011.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0088a0003c0003t0001g0132 | 2 | 406 | 0.0049 | 21 | c.-44 others(32): Show |
PLA2G2C | ENSG00000187980.7 | transcript | ENST00000679259.1 | protein_coding | 4146 | chr1 | TogoVar | ||||||
PLA2G3_chr22_31129807_31145508 | 31144872 | G | GAACTGAG others(14): Show |
upstream_gene_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0057 | 1 | 464 | 0.0022 | 21 | c.-45 others(32): Show |
PLA2G3 | ENSG00000100078.4 | transcript | ENST00000215885.4 | protein_coding | 4365 | chr22 | TogoVar | ||||||
PLA2G4C_chr19_48042846_48115817 | 48057480 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02300.hp2 NA18952.hp2 |
a0001 | a0001c0001a0001c0015 | a0001c0001t0001a0001c0015t0004 | a0001c0001t0001g0033a0001c0015t0004g0035 | 2 | 322 | 0.0062 | 21 | c.125 others(40): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 14/16 | chr19 | TogoVar | ||||||
PLA2G4C_chr19_48042846_48115817 | 48105933 | C | CCTCTTTC others(14): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0028 | a0028c0067 | a0028c0067t0004 | a0028c0067t0004g0011 | 1 | 322 | 0.0031 | 21 | c.9-4 others(32): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 2/16 | chr19 | TogoVar | ||||||
PLA2G5_chr1_20065194_20096911 | 20065220 | C | CATCATGA others(14): Show |
upstream_gene_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 430 | 0.0023 | 21 | c.-52 others(32): Show |
PLA2G5 | ENSG00000127472.11 | transcript | ENST00000375108.4 | protein_coding | 4973 | chr1 | TogoVar | ||||||
PLA2R1_chr2_159927006_160067615 | 159935945 | A | ATTTTTTT others(14): Show |
3_prime_UTR_variant | MODIFIER | HG02083.hp1 NA18957.hp2 NA18965.hp1 others(5): Show |
a0001a0003a0016 | a0001c0001a0001c0003a0003c0004others(1): Show | a0001c0001t0086a0001c0001t0119a0001c0001t0122others(4): Show | a0001c0001t0086g0197a0001c0001t0119g0300a0001c0001t0122g0299others(5): Show | 8 | 326 | 0.0245 | 21 | c.*58 others(32): Show |
PLA2R1 | ENSG00000153246.13 | transcript | ENST00000283243.13 | protein_coding | 30/30 | 5832 | chr2 | TogoVar | |||||
PLAAT3_chr11_63569462_63619433 | 63619037 | C | CAAAAAAA others(14): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 HG02723.hp2 HG02895.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0153a0001c0001t0001g0183a0001c0001t0001g0309others(3): Show | 6 | 352 | 0.0171 | 21 | c.-47 others(32): Show |
PLAAT3 | ENSG00000176485.14 | transcript | ENST00000415826.3 | protein_coding | 4605 | chr11 | TogoVar | ||||||
PLAA_chr9_26898372_26952242 | 26948448 | A | ATTTTTTT others(14): Show |
upstream_gene_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 374 | 0.0027 | 21 | c.-14 others(32): Show |
PLAA | ENSG00000137055.15 | transcript | ENST00000397292.8 | protein_coding | 1207 | chr9 | TogoVar | ||||||
PLAGL1_chr6_143935300_144013259 | 143943031 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02109.hp1 NA21309.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002 | a0001c0001t0001g0336a0001c0003t0002g0163 | 2 | 394 | 0.0051 | 21 | c.153 others(36): Show |
PLAGL1 | ENSG00000118495.21 | transcript | ENST00000674357.1 | protein_coding | 7/7 | chr6 | TogoVar | ||||||
PLB1_chr2_28491060_28649142 | 28554489 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG03209.hp1 HG03225.hp2 NA18995.hp2 others(2): Show |
a0001a0002a0004others(1): Show | a0001c0004a0001c0019a0002c0001others(2): Show | a0001c0004t0001a0001c0019t0001a0002c0001t0002others(2): Show | a0001c0004t0001g0103a0001c0019t0001g0177a0002c0001t0002g0172others(2): Show | 5 | 266 | 0.0188 | 21 | c.114 others(40): Show |
PLB1 | ENSG00000163803.13 | transcript | ENST00000327757.10 | protein_coding | 17/57 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PLCB1_chr20_8127266_8889900 | 8744616 | T | TAAATAAA others(14): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01496.hp2 HG01517.hp1 others(21): Show |
a0001 | a0001c0001a0001c0004a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0015a0001c0001t0001g0035a0001c0001t0001g0063others(21): Show | 24 | 106 | 0.2264 | 21 | c.252 others(40): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 23/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PLCB3_chr11_64246530_64272923 | 64257016 | T | TTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02257.hp1 HG03209.hp1 HG03471.hp1 others(1): Show |
a0001a0002a0005 | a0001c0004a0002c0005a0005c0010 | a0001c0004t0001a0002c0005t0001a0005c0010t0001 | a0001c0004t0001g0023a0002c0005t0001g0059a0005c0010t0001g0023 | 4 | 382 | 0.0105 | 21 | c.101 others(38): Show |
PLCB3 | ENSG00000149782.13 | transcript | ENST00000279230.12 | protein_coding | 10/30 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PLCB4_chr20_9064087_9485808 | 9398689 | G | GTATTATT others(14): Show |
intron_variant | MODIFIER | HG02451.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0038 | 2 | 140 | 0.0143 | 21 | c.151 others(40): Show |
PLCB4 | ENSG00000101333.19 | transcript | ENST00000378473.9 | protein_coding | 19/39 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PLCD1_chr3_38002496_38034642 | 38007400 | G | GGACACAC others(14): Show |
downstream_gene_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0087 | 1 | 362 | 0.0028 | 21 | c.*37 others(30): Show |
PLCD1 | ENSG00000187091.14 | transcript | ENST00000334661.5 | protein_coding | 95 | chr3 | TogoVar | ||||||
PLCD1_chr3_38002496_38034642 | 38033999 | A | ACACACAC others(14): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG02970.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0002 | a0001c0001t0001g0001a0001c0004t0002g0150 | 2 | 362 | 0.0055 | 21 | c.-44 others(32): Show |
PLCD1 | ENSG00000187091.14 | transcript | ENST00000334661.5 | protein_coding | 4358 | chr3 | TogoVar | ||||||
PLCE1_chr10_93988931_94337823 | 94106944 | C | CTCTCTCT others(14): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0005 | a0005c0021 | a0005c0021t0038 | a0005c0021t0038g0030 | 1 | 118 | 0.0085 | 21 | c.120 others(42): Show |
PLCE1 | ENSG00000138193.17 | transcript | ENST00000371380.8 | protein_coding | 2/32 | chr10 | TogoVar | ||||||
PLCE1_chr10_93988931_94337823 | 94179512 | G | GTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01433.hp2 |
a0006a0015 | a0006c0012a0015c0045 | a0006c0012t0018a0015c0045t0041 | a0006c0012t0018g0113a0015c0045t0041g0109 | 2 | 118 | 0.0170 | 21 | c.180 others(40): Show |
PLCE1 | ENSG00000138193.17 | transcript | ENST00000371380.8 | protein_coding | 4/32 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PLCE1_chr10_93988931_94337823 | 94329776 | C | CAAAAAAA others(14): Show |
3_prime_UTR_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0034 | a0001c0034t0069 | a0001c0034t0069g0072 | 1 | 118 | 0.0085 | 21 | c.*18 others(32): Show |
PLCE1 | ENSG00000138193.17 | transcript | ENST00000371380.8 | protein_coding | 33/33 | 4732 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
PLCG2_chr16_81774291_81967685 | 81834591 | A | AGCTGCTG others(14): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02818.hp1 HG03453.hp1 |
a0001a0004 | a0001c0028a0001c0060a0004c0074 | a0001c0028t0083a0001c0060t0005a0004c0074t0025 | a0001c0028t0083g0120a0001c0060t0005g0240a0004c0074t0025g0239 | 3 | 330 | 0.0091 | 21 | c.194 others(40): Show |
PLCG2 | ENSG00000197943.12 | transcript | ENST00000564138.6 | protein_coding | 2/32 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PLCG2_chr16_81774291_81967685 | 81944282 | C | CCAAGCTT others(14): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01074.hp2 HG01192.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0006a0001c0001t0053a0001c0002t0006others(9): Show | a0001c0001t0006g0074a0001c0001t0006g0129a0001c0001t0006g0259others(15): Show | 18 | 330 | 0.0546 | 21 | c.348 others(40): Show |
PLCG2 | ENSG00000197943.12 | transcript | ENST00000564138.6 | protein_coding | 30/32 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PLCH1_chr3_155474881_155750071 | 155699849 | C | CACACACA others(14): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0092 | 1 | 264 | 0.0038 | 21 | c.79+ others(36): Show |
PLCH1 | ENSG00000114805.18 | transcript | ENST00000460012.7 | protein_coding | 2/22 | chr3 | TogoVar | ||||||
PLCH1_chr3_155474881_155750071 | 155737231 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01981.hp2 HG02572.hp2 HG02622.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0003 | a0001c0001t0001g0010a0001c0001t0001g0016a0001c0001t0001g0017others(3): Show | 6 | 264 | 0.0227 | 21 | c.-41 others(38): Show |
PLCH1 | ENSG00000114805.18 | transcript | ENST00000460012.7 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
PLCH1_chr3_155474881_155750071 | 155741684 | C | CTTTTATT others(14): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 264 | 0.0038 | 21 | c.-41 others(38): Show |
PLCH1 | ENSG00000114805.18 | transcript | ENST00000460012.7 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
PLCH1_chr3_155474881_155750071 | 155741684 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02897.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0016a0001c0002t0003g0020 | 2 | 264 | 0.0076 | 21 | c.-41 others(38): Show |
PLCH1 | ENSG00000114805.18 | transcript | ENST00000460012.7 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
PLCH1_chr3_155474881_155750071 | 155741685 | T | TTTTATTT others(14): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0236 | 1 | 264 | 0.0038 | 21 | c.-41 others(38): Show |
PLCH1 | ENSG00000114805.18 | transcript | ENST00000460012.7 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
PLCH2_chr1_2471289_2510532 | 2483897 | T | TTGGGGGG others(14): Show |
intron_variant | MODIFIER | HG03139.hp1 NA20300.hp1 |
a0009a0013 | a0009c0036a0013c0020 | a0009c0036t0004a0013c0020t0004 | a0009c0036t0004g0029a0013c0020t0004g0029 | 2 | 383 | 0.0052 | 21 | c.646 others(36): Show |
PLCH2 | ENSG00000149527.18 | transcript | ENST00000378486.8 | protein_coding | 4/21 | chr1 | TogoVar | ||||||
PLCH2_chr1_2471289_2510532 | 2483924 | G | GGCGCTGA others(14): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02809.hp2 NA19005.hp1 others(2): Show |
a0001a0010 | a0001c0002a0010c0013 | a0001c0002t0001a0010c0013t0002 | a0001c0002t0001g0018a0001c0002t0001g0129a0010c0013t0002g0055others(1): Show | 5 | 383 | 0.0131 | 21 | c.646 others(36): Show |
PLCH2 | ENSG00000149527.18 | transcript | ENST00000378486.8 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PLCL2_chr3_16879955_17095604 | 16904306 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01978.hp1 HG02004.hp2 HG03491.hp2 others(4): Show |
a0001 | a0001c0003a0001c0005a0001c0014 | a0001c0003t0001a0001c0005t0001a0001c0014t0001 | a0001c0003t0001g0180a0001c0003t0001g0186a0001c0003t0001g0193others(4): Show | 7 | 250 | 0.0280 | 21 | c.327 others(40): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PLCXD1_chrX_276381_308356 | 280477 | G | GGAGGCCG others(14): Show |
upstream_gene_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0079 | 1 | 176 | 0.0057 | 21 | c.-12 others(32): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 903 | chrX | TogoVar | ||||||
PLCXD1_chrX_276381_308356 | 280690 | A | AGGGGGAG others(14): Show |
upstream_gene_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0113 | a0001c0001t0113g0166 | 1 | 176 | 0.0057 | 21 | c.-10 others(32): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 690 | chrX | TogoVar | ||||||
PLCXD1_chrX_276381_308356 | 280758 | G | GGGGGTAC others(14): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 HG02615.hp2 HG02723.hp1 others(1): Show |
a0001a0010 | a0001c0001a0001c0003a0010c0008 | a0001c0001t0086a0001c0001t0087a0001c0003t0051others(1): Show | a0001c0001t0086g0061a0001c0001t0087g0060a0001c0003t0051g0071others(1): Show | 4 | 176 | 0.0227 | 21 | c.-94 others(30): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 622 | chrX | TogoVar |