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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PKDCC_chr2_42043021_42063517 | 42044175 | G | GAAGGAAG others(33): Show |
upstream_gene_variant | MODIFIER | HG01106.hp2 HG01978.hp1 |
a0001a0002 | a0001c0004a0002c0002 | a0001c0004t0003a0002c0002t0002 | a0001c0004t0003g0092 a0002c0002t0002g0059 |
2 | 186 | 0.0108 | 40 | c.-40 others(51): Show |
PKDCC | ENSG00000162878.13 | transcript | ENST00000294964.6 | protein_coding | 3845 | chr2 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51801639 | T | TTGTGTGT others(33): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0011 | a0011c0017 | a0011c0017t0005 | a0011c0017t0005g0071 | 1 | 55 | 0.0182 | 40 | c.830 others(61): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 52/66 | chr6 | TogoVar | |||||||
PKNOX2_chr11_125159751_125438389 | 125178645 | A | AGAAAGAA others(33): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 56 | 0.0179 | 40 | c.-20 others(61): Show |
PKNOX2 | ENSG00000165495.16 | transcript | ENST00000298282.14 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PKNOX2_chr11_125159751_125438389 | 125189385 | G | GTGTATAT others(33): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0198 | 1 | 152 | 0.0066 | 40 | c.-20 others(61): Show |
PKNOX2 | ENSG00000165495.16 | transcript | ENST00000298282.14 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PKNOX2_chr11_125159751_125438389 | 125309130 | C | CCTTCCTT others(33): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02280.hp1 HG02895.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0005a0001c0001t0006a0001c0003t0004others(1): Show | a0001c0001t0005g0178 a0001c0001t0006g0128 a0001c0001t0006g0129 others(4): Show |
7 | 170 | 0.0412 | 40 | c.-12 others(61): Show |
PKNOX2 | ENSG00000165495.16 | transcript | ENST00000298282.14 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PKNOX2_chr11_125159751_125438389 | 125309130 | C | CCTTCCTT others(33): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0130 | 1 | 164 | 0.0061 | 40 | c.-12 others(61): Show |
PKNOX2 | ENSG00000165495.16 | transcript | ENST00000298282.14 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PKP1_chr1_201278506_201337989 | 201316121 | T | TGGACGGA others(33): Show |
intron_variant | MODIFIER | HG01257.hp2 NA18950.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0149 a0001c0002t0002g0183 |
2 | 313 | 0.0064 | 40 | c.702 others(55): Show |
PKP1 | ENSG00000081277.13 | transcript | ENST00000367324.8 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PKP1_chr1_201278506_201337989 | 201316141 | T | TGGATGGA others(33): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02109.hp1 HG02922.hp2 others(2): Show |
a0002a0007 | a0002c0004a0002c0010a0002c0021others(1): Show | a0002c0004t0013a0002c0010t0013a0002c0021t0013others(1): Show | a0002c0004t0013g0052 a0002c0010t0013g0208 a0002c0021t0013g0058 others(1): Show |
5 | 160 | 0.0313 | 40 | c.702 others(55): Show |
PKP1 | ENSG00000081277.13 | transcript | ENST00000367324.8 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PKP1_chr1_201278506_201337989 | 201316143 | G | GATGGATG others(33): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(66): Show |
a0001a0005a0009 | a0001c0001a0005c0013a0009c0022 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0011 others(52): Show |
69 | 261 | 0.2644 | 40 | c.702 others(55): Show |
PKP1 | ENSG00000081277.13 | transcript | ENST00000367324.8 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PLA2G12A_chr4_109704989_109735070 | 109730108 | A | AGGGGCGG others(33): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 HG02615.hp2 HG03130.hp1 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0003a0003c0006t0030 | a0001c0001t0003g0013 a0001c0001t0003g0014 a0003c0006t0030g0055 |
3 | 204 | 0.0147 | 40 | c.-30 others(49): Show |
PLA2G12A | ENSG00000123739.11 | transcript | ENST00000243501.10 | protein_coding | 39 | chr4 | TogoVar | |||||||
PLA2G4C_chr19_48042846_48115817 | 48105941 | C | CCTTTCTT others(33): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0020 | a0001c0020t0001 | a0001c0020t0001g0104 | 1 | 197 | 0.0051 | 40 | c.9-4 others(51): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 2/16 | chr19 | TogoVar | |||||||
PLA2G4C_chr19_48042846_48115817 | 48105945 | C | CCTTTCTT others(33): Show |
intron_variant | MODIFIER | HG02027.hp2 HG03486.hp1 |
a0001a0014 | a0001c0001a0014c0065 | a0001c0001t0010a0014c0065t0004 | a0001c0001t0010g0093 a0014c0065t0004g0100 |
2 | 121 | 0.0165 | 40 | c.9-5 others(51): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 2/16 | chr19 | TogoVar | |||||||
PLA2G4C_chr19_48042846_48115817 | 48105947 | C | CTCCCTCC others(33): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 108 | 0.0093 | 40 | c.9-5 others(51): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 2/16 | chr19 | TogoVar | |||||||
PLA2G4C_chr19_48042846_48115817 | 48105947 | C | CTCCTTTC others(33): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0002 | a0002c0005 | a0002c0005t0004 | a0002c0005t0004g0082 | 1 | 108 | 0.0093 | 40 | c.9-5 others(51): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 2/16 | chr19 | TogoVar | |||||||
PLA2G4C_chr19_48042846_48115817 | 48105947 | C | CTTCTTTC others(33): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0081 | 1 | 108 | 0.0093 | 40 | c.8+5 others(51): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 2/16 | chr19 | TogoVar | |||||||
PLA2G5_chr1_20065194_20096911 | 20090415 | G | GCGGGCGC others(33): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 428 | 0.0023 | 40 | c.293 others(55): Show |
PLA2G5 | ENSG00000127472.11 | transcript | ENST00000375108.4 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PLAAT3_chr11_63569462_63619433 | 63615018 | A | ATATATAT others(33): Show |
upstream_gene_variant | MODIFIER | HG01516.hp2 HG02735.hp2 HG03540.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0160 others(1): Show |
4 | 269 | 0.0149 | 40 | c.-68 others(49): Show |
PLAAT3 | ENSG00000176485.14 | transcript | ENST00000415826.3 | protein_coding | 586 | chr11 | TogoVar | |||||||
PLAAT3_chr11_63569462_63619433 | 63615022 | A | ATATATAT others(33): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 NA18981.hp2 NA18999.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021 a0001c0001t0002g0040 a0001c0001t0002g0076 |
3 | 257 | 0.0117 | 40 | c.-69 others(49): Show |
PLAAT3 | ENSG00000176485.14 | transcript | ENST00000415826.3 | protein_coding | 590 | chr11 | TogoVar | |||||||
PLAAT3_chr11_63569462_63619433 | 63615050 | A | ATATATAT others(33): Show |
upstream_gene_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0044 | 1 | 329 | 0.0030 | 40 | c.-72 others(49): Show |
PLAAT3 | ENSG00000176485.14 | transcript | ENST00000415826.3 | protein_coding | 618 | chr11 | TogoVar | |||||||
PLAT_chr8_42169718_42212565 | 42203992 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0324 | 1 | 234 | 0.0043 | 40 | c.-27 others(57): Show |
PLAT | ENSG00000104368.19 | transcript | ENST00000220809.9 | protein_coding | 1/13 | chr8 | TogoVar | |||||||
PLAT_chr8_42169718_42212565 | 42203992 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0328 | 1 | 234 | 0.0043 | 40 | c.-27 others(57): Show |
PLAT | ENSG00000104368.19 | transcript | ENST00000220809.9 | protein_coding | 1/13 | chr8 | TogoVar | |||||||
PLCB1_chr20_8127266_8889900 | 8662453 | A | ATTATTTA others(33): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0090 | 1 | 58 | 0.0172 | 40 | c.862 others(57): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 9/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PLCB1_chr20_8127266_8889900 | 8773955 | C | CAGAGCAA others(33): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02559.hp1 HG03130.hp2 others(1): Show |
a0001a0002 | a0001c0008a0001c0022a0001c0023others(1): Show | a0001c0008t0012a0001c0022t0015a0001c0023t0003others(1): Show | a0001c0008t0012g0102 a0001c0022t0015g0103 a0001c0023t0003g0106 others(1): Show |
4 | 106 | 0.0377 | 40 | c.293 others(57): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 26/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PLCD4_chr2_218602899_218642175 | 218616927 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0071 | 1 | 157 | 0.0064 | 40 | c.181 others(55): Show |
PLCD4 | ENSG00000115556.14 | transcript | ENST00000450993.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PLCG2_chr16_81774291_81967685 | 81776079 | C | CTCATTCG others(33): Show |
upstream_gene_variant | MODIFIER | HG03017.hp1 HG03491.hp2 HG03492.hp2 |
a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0106 a0001c0002t0008g0107 a0001c0002t0008g0108 |
3 | 79 | 0.0380 | 40 | c.-33 others(51): Show |
PLCG2 | ENSG00000197943.12 | transcript | ENST00000564138.6 | protein_coding | 3211 | chr16 | TogoVar | |||||||
PLCG2_chr16_81774291_81967685 | 81776079 | C | CTCGTTCT others(33): Show |
upstream_gene_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0025 | a0001c0025t0001 | a0001c0025t0001g0273 | 1 | 77 | 0.0130 | 40 | c.-33 others(51): Show |
PLCG2 | ENSG00000197943.12 | transcript | ENST00000564138.6 | protein_coding | 3211 | chr16 | TogoVar | |||||||
PLCXD1_chrX_276381_308356 | 280315 | A | AGGGAGGC others(33): Show |
upstream_gene_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0059 | 1 | 172 | 0.0058 | 40 | c.-13 others(51): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 1065 | chrX | TogoVar | |||||||
PLCXD1_chrX_276381_308356 | 280455 | G | GGGGAGGC others(33): Show |
upstream_gene_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0065 | 1 | 94 | 0.0106 | 40 | c.-12 others(51): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 925 | chrX | TogoVar | |||||||
PLCXD1_chrX_276381_308356 | 280469 | G | GGGGGCAG others(33): Show |
upstream_gene_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0071 | 1 | 174 | 0.0057 | 40 | c.-12 others(51): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 911 | chrX | TogoVar | |||||||
PLCXD1_chrX_276381_308356 | 280536 | G | GGGGAGGC others(33): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 HG01496.hp1 HG01891.hp2 others(12): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0009a0001c0001t0028a0001c0001t0030others(10): Show | a0001c0001t0009g0068 a0001c0001t0009g0070 a0001c0001t0009g0077 others(12): Show |
15 | 159 | 0.0943 | 40 | c.-11 others(51): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 844 | chrX | TogoVar | |||||||
PLCXD1_chrX_276381_308356 | 280540 | A | AGGCCGTG others(33): Show |
upstream_gene_variant | MODIFIER | HG02723.hp1 | a0007 | a0007c0008 | a0007c0008t0073 | a0007c0008t0073g0073 | 1 | 172 | 0.0058 | 40 | c.-11 others(51): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 840 | chrX | TogoVar | |||||||
PLCXD1_chrX_276381_308356 | 280556 | A | AGGGAGGC others(33): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 HG03139.hp1 HG03669.hp2 |
a0001a0008 | a0001c0003a0008c0013 | a0001c0003t0006a0001c0003t0042a0008c0013t0025 | a0001c0003t0006g0120 a0001c0003t0042g0121 a0008c0013t0025g0155 |
3 | 162 | 0.0185 | 40 | c.-11 others(51): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 824 | chrX | TogoVar | |||||||
PLCXD1_chrX_276381_308356 | 280600 | A | AGGCCGTG others(33): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(90): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(60): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0042 others(87): Show |
93 | 164 | 0.5671 | 40 | c.-11 others(51): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 780 | chrX | TogoVar | |||||||
PLCXD1_chrX_276381_308356 | 280797 | G | GGGGGGTA others(33): Show |
upstream_gene_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 152 | 0.0066 | 40 | c.-90 others(49): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 583 | chrX | TogoVar | |||||||
PLCXD1_chrX_276381_308356 | 280804 | C | CCGTGCAG others(33): Show |
upstream_gene_variant | MODIFIER | HG02257.hp2 HG02559.hp1 |
a0001 | a0001c0003 | a0001c0003t0055a0001c0003t0083 | a0001c0003t0055g0007 a0001c0003t0083g0008 |
2 | 163 | 0.0123 | 40 | c.-90 others(49): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 576 | chrX | TogoVar | |||||||
PLCXD1_chrX_276381_308356 | 280881 | A | AGGCCGTG others(33): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 HG02056.hp1 HG02148.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0028a0001c0001t0031others(3): Show | a0001c0001t0009g0068 a0001c0001t0009g0077 a0001c0001t0028g0066 others(4): Show |
7 | 162 | 0.0432 | 40 | c.-82 others(49): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 499 | chrX | TogoVar | |||||||
PLCXD1_chrX_276381_308356 | 280975 | G | GGAAGGGA others(33): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 HG01496.hp2 HG02056.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0009a0001c0001t0028a0001c0001t0029others(4): Show | a0001c0001t0009g0068 a0001c0001t0009g0077 a0001c0001t0028g0066 others(5): Show |
8 | 172 | 0.0465 | 40 | c.-73 others(49): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 405 | chrX | TogoVar | |||||||
PLD1_chr3_171595404_171815483 | 171764878 | A | AGAAAGAA others(33): Show |
intron_variant | MODIFIER | NA18963.hp2 NA19070.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0178 a0001c0002t0002g0250 |
2 | 226 | 0.0088 | 40 | c.-31 others(59): Show |
PLD1 | ENSG00000075651.17 | transcript | ENST00000351298.9 | protein_coding | 1/26 | chr3 | TogoVar | |||||||
PLD5_chr1_242077986_242529697 | 242112327 | G | GTGTGTAT others(33): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0025 | 1 | 185 | 0.0054 | 40 | c.107 others(59): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 7/9 | chr1 | TogoVar | |||||||
PLD5_chr1_242077986_242529697 | 242207896 | T | TTATATTT others(33): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02572.hp2 HG02615.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0026a0001c0001t0054a0001c0002t0003others(3): Show | a0001c0001t0026g0065 a0001c0001t0054g0121 a0001c0002t0003g0126 others(3): Show |
6 | 131 | 0.0458 | 40 | c.735 others(59): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 5/9 | chr1 | TogoVar | |||||||
PLD5_chr1_242077986_242529697 | 242393514 | A | ATATATGT others(33): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 182 | 0.0055 | 40 | c.190 others(59): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
PLD5_chr1_242077986_242529697 | 242394453 | A | AGTATATA others(33): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0079 | a0001c0001t0079g0183 | 1 | 130 | 0.0077 | 40 | c.190 others(59): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
PLEC_chr8_143910153_143978529 | 143978068 | G | GACACGCG others(33): Show |
upstream_gene_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 300 | 0.0033 | 40 | c.-46 others(51): Show |
PLEC | ENSG00000178209.17 | transcript | ENST00000356346.7 | protein_coding | 4540 | chr8 | TogoVar | |||||||
PLEKHA5_chr12_19124733_19381400 | 19253064 | C | CTTTTTTT others(33): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0136 | 1 | 67 | 0.0149 | 40 | c.228 others(55): Show |
PLEKHA5 | ENSG00000052126.17 | transcript | ENST00000429027.7 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PLEKHA7_chr11_16772297_17019414 | 16891070 | C | CTCTATTC others(33): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 90 | 0.0111 | 40 | c.222 others(59): Show |
PLEKHA7 | ENSG00000166689.18 | transcript | ENST00000531066.6 | protein_coding | 3/26 | chr11 | TogoVar | |||||||
PLEKHA8_chr7_30023412_30089650 | 30050925 | T | TGCTCCTT others(33): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0212 | 1 | 232 | 0.0043 | 40 | c.638 others(55): Show |
PLEKHA8 | ENSG00000106086.21 | transcript | ENST00000449726.6 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PLEKHD1_chr14_69479728_69536551 | 69498588 | T | TTTCTCTT others(33): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02165.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0241 a0001c0003t0001g0294 |
2 | 97 | 0.0206 | 40 | c.150 others(57): Show |
PLEKHD1 | ENSG00000175985.10 | transcript | ENST00000322564.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PLEKHD1_chr14_69479728_69536551 | 69498588 | T | TTTCTCTT others(33): Show |
intron_variant | MODIFIER | NA18965.hp2 NA19086.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004 | a0001c0001t0001g0143 a0001c0002t0004g0288 |
2 | 97 | 0.0206 | 40 | c.150 others(57): Show |
PLEKHD1 | ENSG00000175985.10 | transcript | ENST00000322564.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PLEKHG1_chr6_150594885_150848665 | 150810514 | A | AAAAGAAA others(33): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01243.hp1 |
a0001a0004 | a0001c0002a0004c0051 | a0001c0002t0001a0004c0051t0007 | a0001c0002t0001g0212 a0004c0051t0007g0263 |
2 | 213 | 0.0094 | 40 | c.127 others(57): Show |
PLEKHG1 | ENSG00000120278.17 | transcript | ENST00000696526.1 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PLEKHG7_chr12_92697989_92777455 | 92728409 | A | ATGGTGTA others(33): Show |
intron_variant | MODIFIER | HG01261.hp1 HG03471.hp2 |
a0002a0006 | a0002c0003a0006c0010 | a0002c0003t0004a0006c0010t0012 | a0002c0003t0004g0201 a0006c0010t0012g0131 |
2 | 123 | 0.0163 | 40 | c.531 others(55): Show |
PLEKHG7 | ENSG00000187510.11 | transcript | ENST00000344636.6 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |