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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PLD1_chr3_171595404_171815483 | 171770888 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03098.hp2 NA19240.hp2 |
a0001a0002a0009 | a0001c0005a0002c0003a0009c0012 | a0001c0005t0010a0002c0003t0003a0009c0012t0004 | a0001c0005t0010g0278 a0002c0003t0003g0179 a0009c0012t0004g0287 |
3 | 294 | 0.0102 | 20 | c.-31 others(39): Show |
PLD1 | ENSG00000075651.17 | transcript | ENST00000351298.9 | protein_coding | 1/26 | chr3 | TogoVar | |||||||
PLD1_chr3_171595404_171815483 | 171808815 | A | ATTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01884.hp2 HG02886.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0002a0001c0002t0004 | a0001c0001t0006g0254 a0001c0002t0002g0255 a0001c0002t0002g0256 others(1): Show |
4 | 294 | 0.0136 | 20 | c.-32 others(37): Show |
PLD1 | ENSG00000075651.17 | transcript | ENST00000351298.9 | protein_coding | 1/26 | chr3 | TogoVar | |||||||
PLD5_chr1_242077986_242529697 | 242081628 | T | TACACACA others(13): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 HG02886.hp1 HG03540.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0002t0024a0001c0002t0039others(2): Show | a0001c0001t0008g0012 a0001c0001t0008g0027 a0001c0001t0008g0038 others(4): Show |
7 | 188 | 0.0372 | 20 | c.*82 others(31): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 1357 | chr1 | TogoVar | |||||||
PLD5_chr1_242077986_242529697 | 242168846 | G | GTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00621.hp1 HG03130.hp1 HG04204.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0008others(1): Show | a0001c0001t0005g0064 a0001c0001t0006g0094 a0001c0001t0008g0012 others(1): Show |
4 | 188 | 0.0213 | 20 | c.736 others(39): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 5/9 | chr1 | TogoVar | |||||||
PLD5_chr1_242077986_242529697 | 242194566 | A | ATATCTAT others(13): Show |
intron_variant | MODIFIER | HG02735.hp2 HG02886.hp2 HG03017.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0001t0017others(2): Show | a0001c0001t0001g0075 a0001c0001t0007g0040 a0001c0001t0017g0105 others(2): Show |
5 | 188 | 0.0266 | 20 | c.735 others(39): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 5/9 | chr1 | TogoVar | |||||||
PLD5_chr1_242077986_242529697 | 242194602 | C | CTATCTAT others(13): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0152 | 1 | 188 | 0.0053 | 20 | c.735 others(39): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 5/9 | chr1 | TogoVar | |||||||
PLD5_chr1_242077986_242529697 | 242194610 | C | CTATCTAT others(13): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 188 | 0.0053 | 20 | c.735 others(39): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 5/9 | chr1 | TogoVar | |||||||
PLD5_chr1_242077986_242529697 | 242207736 | T | TTTTATAT others(13): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 188 | 0.0053 | 20 | c.735 others(39): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 5/9 | chr1 | TogoVar | |||||||
PLD5_chr1_242077986_242529697 | 242220707 | A | ATATTTTA others(13): Show |
intron_variant | MODIFIER | HG03130.hp1 HG03209.hp2 HG03516.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0036a0001c0001t0054a0001c0002t0024 | a0001c0001t0036g0025 a0001c0001t0054g0122 a0001c0002t0024g0150 |
3 | 188 | 0.0160 | 20 | c.608 others(35): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 4/9 | chr1 | TogoVar | |||||||
PLD5_chr1_242077986_242529697 | 242246478 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG02895.hp2 NA18977.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0017 | a0001c0001t0005g0047 a0001c0001t0017g0089 |
2 | 188 | 0.0106 | 20 | c.607 others(39): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 4/9 | chr1 | TogoVar | |||||||
PLD5_chr1_242077986_242529697 | 242393512 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02135.hp2 HG02559.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0020 a0001c0001t0002g0068 a0001c0001t0004g0082 others(3): Show |
6 | 188 | 0.0319 | 20 | c.190 others(39): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
PLD5_chr1_242077986_242529697 | 242394931 | T | TTATATGA others(13): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01978.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0037 | a0001c0001t0001g0043 a0001c0001t0007g0071 a0001c0001t0037g0102 |
3 | 188 | 0.0160 | 20 | c.190 others(39): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
PLD5_chr1_242077986_242529697 | 242395043 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02071.hp2 HG02717.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0005g0064 others(2): Show |
5 | 188 | 0.0266 | 20 | c.190 others(39): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
PLD5_chr1_242077986_242529697 | 242494091 | T | TTCCCCTC others(13): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02896.hp2 HG02922.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0026a0001c0002t0059others(1): Show | a0001c0001t0001g0039 a0001c0001t0026g0065 a0001c0002t0059g0130 others(1): Show |
4 | 188 | 0.0213 | 20 | c.189 others(39): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
PLD5_chr1_242077986_242529697 | 242516250 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0002 | a0001c0002t0062 | a0001c0002t0062g0141 | 1 | 188 | 0.0053 | 20 | c.189 others(37): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
PLEK2_chr14_67381984_67417165 | 67408295 | T | TAAATAAA others(13): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 354 | 0.0028 | 20 | c.42+ others(35): Show |
PLEK2 | ENSG00000100558.9 | transcript | ENST00000216446.9 | protein_coding | 1/8 | chr14 | TogoVar | |||||||
PLEKHA1_chr10_122369708_122437345 | 122429494 | T | TTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0073 | 1 | 358 | 0.0028 | 20 | c.901 others(34): Show |
PLEKHA1 | ENSG00000107679.15 | transcript | ENST00000368990.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLEKHA2_chr8_38896346_38978912 | 38933790 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02572.hp1 HG02738.hp2 others(1): Show |
a0001a0006 | a0001c0001a0006c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0056others(1): Show | a0001c0001t0001g0204 a0001c0001t0003g0175 a0001c0001t0056g0224 others(1): Show |
4 | 376 | 0.0106 | 20 | c.142 others(37): Show |
PLEKHA2 | ENSG00000169499.15 | transcript | ENST00000617275.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PLEKHA4_chr19_48832097_48873617 | 48858627 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01070.hp1 HG01261.hp2 others(12): Show |
a0002a0003a0004others(2): Show | a0002c0002a0002c0010a0003c0003others(3): Show | a0002c0002t0002a0002c0010t0002a0003c0003t0005others(3): Show | a0002c0002t0002g0039 a0002c0002t0002g0043 a0002c0002t0002g0044 others(12): Show |
15 | 300 | 0.0500 | 20 | c.972 others(35): Show |
PLEKHA4 | ENSG00000105559.13 | transcript | ENST00000263265.11 | protein_coding | 8/19 | chr19 | TogoVar | |||||||
PLEKHA5_chr12_19124733_19381400 | 19157097 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0128 | 1 | 316 | 0.0032 | 20 | c.227 others(39): Show |
PLEKHA5 | ENSG00000052126.17 | transcript | ENST00000429027.7 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PLEKHA5_chr12_19124733_19381400 | 19253064 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00741.hp2 HG01175.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0011others(1): Show | a0001c0001t0002g0061 a0001c0001t0002g0095 a0001c0001t0004g0175 others(3): Show |
6 | 316 | 0.0190 | 20 | c.228 others(35): Show |
PLEKHA5 | ENSG00000052126.17 | transcript | ENST00000429027.7 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PLEKHA5_chr12_19124733_19381400 | 19334829 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0141 | 1 | 316 | 0.0032 | 20 | c.244 others(39): Show |
PLEKHA5 | ENSG00000052126.17 | transcript | ENST00000429027.7 | protein_coding | 20/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PLEKHA5_chr12_19124733_19381400 | 19334862 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 | 1 | 316 | 0.0032 | 20 | c.244 others(39): Show |
PLEKHA5 | ENSG00000052126.17 | transcript | ENST00000429027.7 | protein_coding | 20/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PLEKHA5_chr12_19124733_19381400 | 19379903 | C | CAAAAAAA others(13): Show |
downstream_gene_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0116 | 1 | 316 | 0.0032 | 20 | c.*43 others(31): Show |
PLEKHA5 | ENSG00000052126.17 | transcript | ENST00000429027.7 | protein_coding | 3504 | chr12 | TogoVar | |||||||
PLEKHA6_chr1_204213853_204364929 | 204222020 | A | ATCTCTCT others(13): Show |
3_prime_UTR_variant | MODIFIER | HG01168.hp2 HG01169.hp2 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0025a0004c0004t0025 | a0001c0001t0025g0111 a0004c0004t0025g0230 |
2 | 270 | 0.0074 | 20 | c.*74 others(29): Show |
PLEKHA6 | ENSG00000143850.16 | transcript | ENST00000272203.8 | protein_coding | 23/23 | 1449 | chr1 | TogoVar | ||||||
PLEKHA6_chr1_204213853_204364929 | 204312841 | A | ATTTTCTT others(13): Show |
intron_variant | MODIFIER | HG00642.hp2 NA18990.hp1 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0040a0003c0003t0001 | a0002c0002t0040g0166 a0003c0003t0001g0164 |
2 | 270 | 0.0074 | 20 | c.-94 others(39): Show |
PLEKHA6 | ENSG00000143850.16 | transcript | ENST00000272203.8 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
PLEKHA7_chr11_16772297_17019414 | 16833981 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0199 | 1 | 244 | 0.0041 | 20 | c.873 others(37): Show |
PLEKHA7 | ENSG00000166689.18 | transcript | ENST00000531066.6 | protein_coding | 9/26 | chr11 | TogoVar | |||||||
PLEKHA7_chr11_16772297_17019414 | 16891070 | C | CTCTATTC others(13): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00609.hp1 others(35): Show |
a0001a0013 | a0001c0001a0001c0003a0001c0008others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0051 others(35): Show |
38 | 244 | 0.1557 | 20 | c.222 others(39): Show |
PLEKHA7 | ENSG00000166689.18 | transcript | ENST00000531066.6 | protein_coding | 3/26 | chr11 | TogoVar | |||||||
PLEKHA7_chr11_16772297_17019414 | 16906224 | T | TAGGAAGG others(13): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02922.hp1 HG03669.hp2 others(1): Show |
a0001a0003 | a0001c0026a0003c0006a0003c0019others(1): Show | a0001c0026t0006a0003c0006t0001a0003c0019t0002others(1): Show | a0001c0026t0006g0159 a0003c0006t0001g0105 a0003c0019t0002g0191 others(1): Show |
4 | 244 | 0.0164 | 20 | c.222 others(39): Show |
PLEKHA7 | ENSG00000166689.18 | transcript | ENST00000531066.6 | protein_coding | 3/26 | chr11 | TogoVar | |||||||
PLEKHA7_chr11_16772297_17019414 | 16906273 | A | AGGAAGGA others(13): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02723.hp2 |
a0001a0012 | a0001c0001a0012c0043 | a0001c0001t0001a0012c0043t0003 | a0001c0001t0001g0079 a0012c0043t0003g0173 |
2 | 244 | 0.0082 | 20 | c.222 others(39): Show |
PLEKHA7 | ENSG00000166689.18 | transcript | ENST00000531066.6 | protein_coding | 3/26 | chr11 | TogoVar | |||||||
PLEKHA7_chr11_16772297_17019414 | 17015877 | C | CCATACAC others(13): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG03225.hp1 |
a0001a0002 | a0001c0030a0002c0004 | a0001c0030t0003a0002c0004t0017 | a0001c0030t0003g0026 a0002c0004t0017g0244 |
2 | 244 | 0.0082 | 20 | c.-14 others(31): Show |
PLEKHA7 | ENSG00000166689.18 | transcript | ENST00000531066.6 | protein_coding | 1464 | chr11 | TogoVar | |||||||
PLEKHA8_chr7_30023412_30089650 | 30043006 | T | TTTTGTTT others(13): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0208 | 1 | 234 | 0.0043 | 20 | c.41- others(35): Show |
PLEKHA8 | ENSG00000106086.21 | transcript | ENST00000449726.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PLEKHA8_chr7_30023412_30089650 | 30056312 | C | CTCTCTCT others(13): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 234 | 0.0043 | 20 | c.103 others(37): Show |
PLEKHA8 | ENSG00000106086.21 | transcript | ENST00000449726.6 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PLEKHB1_chr11_73641581_73667819 | 73664444 | T | TCCTTCCC others(13): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 HG00639.hp1 HG00673.hp2 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008 | a0001c0001t0001g0001 a0001c0001t0001g0058 a0001c0001t0002g0002 others(13): Show |
43 | 416 | 0.1034 | 20 | c.*28 others(31): Show |
PLEKHB1 | ENSG00000021300.14 | transcript | ENST00000354190.10 | protein_coding | 1626 | chr11 | TogoVar | |||||||
PLEKHB2_chr2_131100336_131154845 | 131150294 | T | TTTTATTT others(13): Show |
downstream_gene_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 264 | 0.0038 | 20 | c.*35 others(31): Show |
PLEKHB2 | ENSG00000115762.17 | transcript | ENST00000693505.1 | protein_coding | 450 | chr2 | TogoVar | |||||||
PLEKHD1_chr14_69479728_69536551 | 69498057 | A | ATTTATTT others(13): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02155.hp1 HG03688.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0108 a0001c0002t0002g0286 a0001c0002t0002g0287 others(3): Show |
6 | 318 | 0.0189 | 20 | c.150 others(37): Show |
PLEKHD1 | ENSG00000175985.10 | transcript | ENST00000322564.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PLEKHD1_chr14_69479728_69536551 | 69498057 | A | ATTTTATT others(13): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0211 | 1 | 318 | 0.0031 | 20 | c.150 others(37): 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(13): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00597.hp1 others(21): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(5): Show | a0001c0001t0001g0009 a0001c0001t0001g0031 a0001c0001t0001g0048 others(21): Show |
24 | 318 | 0.0755 | 20 | c.150 others(37): Show |
PLEKHD1 | ENSG00000175985.10 | transcript | ENST00000322564.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PLEKHD1_chr14_69479728_69536551 | 69498597 | T | TCTTCTCT others(13): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG01952.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0004 a0001c0003t0001g0213 a0001c0003t0001g0240 |
4 | 318 | 0.0126 | 20 | c.150 others(37): Show |
PLEKHD1 | ENSG00000175985.10 | transcript | ENST00000322564.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PLEKHF1_chr19_29660461_29680477 | 29661043 | T | TACACACA others(13): Show |
upstream_gene_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 1 | 440 | 0.0023 | 20 | c.-44 others(31): Show |
PLEKHF1 | ENSG00000166289.6 | transcript | ENST00000436066.4 | protein_coding | 4417 | chr19 | TogoVar | |||||||
PLEKHF2_chr8_95128785_95161685 | 95160576 | G | GTGTGTGT others(13): Show |
downstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0038 | 1 | 384 | 0.0026 | 20 | c.*57 others(31): Show |
PLEKHF2 | ENSG00000175895.5 | transcript | ENST00000315367.4 | protein_coding | 3892 | chr8 | TogoVar | |||||||
PLEKHG1_chr6_150594885_150848665 | 150628527 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG00609.hp2 HG02109.hp1 HG02132.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0013others(1): Show | a0001c0001t0020a0001c0002t0001a0001c0013t0006others(1): Show | a0001c0001t0020g0136 a0001c0002t0001g0224 a0001c0013t0006g0125 others(1): Show |
4 | 272 | 0.0147 | 20 | c.-15 others(41): Show |
PLEKHG1 | ENSG00000120278.17 | transcript | ENST00000696526.1 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PLEKHG1_chr6_150594885_150848665 | 150628575 | C | CACACACA others(13): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01243.hp1 HG02723.hp1 others(6): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0005a0001c0002t0001a0001c0004t0001others(5): Show | a0001c0001t0005g0201 a0001c0002t0001g0091 a0001c0002t0001g0212 others(6): Show |
9 | 272 | 0.0331 | 20 | c.-15 others(41): Show |
PLEKHG1 | ENSG00000120278.17 | transcript | ENST00000696526.1 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PLEKHG1_chr6_150594885_150848665 | 150644334 | G | GTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02165.hp1 NA18957.hp1 |
a0001a0003 | a0001c0013a0003c0029 | a0001c0013t0005a0003c0029t0001 | a0001c0013t0005g0067 a0003c0029t0001g0172 |
2 | 272 | 0.0074 | 20 | c.-15 others(39): Show |
PLEKHG1 | ENSG00000120278.17 | transcript | ENST00000696526.1 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PLEKHG1_chr6_150594885_150848665 | 150674628 | C | CCTCTCTC others(13): Show |
intron_variant | MODIFIER | HG01975.hp2 NA19004.hp1 |
a0001 | a0001c0016a0001c0019 | a0001c0016t0006a0001c0019t0004 | a0001c0016t0006g0072 a0001c0019t0004g0123 |
2 | 272 | 0.0074 | 20 | c.-99 others(39): Show |
PLEKHG1 | ENSG00000120278.17 | transcript | ENST00000696526.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PLEKHG1_chr6_150594885_150848665 | 150674632 | C | CCTCTCTC others(13): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0011 | a0011c0042 | a0011c0042t0001 | a0011c0042t0001g0011 | 1 | 272 | 0.0037 | 20 | c.-99 others(39): Show |
PLEKHG1 | ENSG00000120278.17 | transcript | ENST00000696526.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PLEKHG1_chr6_150594885_150848665 | 150702557 | G | GGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03540.hp1 |
a0001a0004 | a0001c0002a0004c0025 | a0001c0002t0001a0004c0025t0017 | a0001c0002t0001g0218 a0004c0025t0017g0155 |
2 | 272 | 0.0074 | 20 | c.-98 others(39): Show |
PLEKHG1 | ENSG00000120278.17 | transcript | ENST00000696526.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PLEKHG1_chr6_150594885_150848665 | 150763024 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01069.hp1 HG01081.hp1 others(14): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(11): Show | a0001c0001t0001g0010 a0001c0001t0001g0243 a0001c0001t0005g0204 others(14): Show |
17 | 272 | 0.0625 | 20 | c.412 others(37): Show |
PLEKHG1 | ENSG00000120278.17 | transcript | ENST00000696526.1 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PLEKHG1_chr6_150594885_150848665 | 150804175 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0026 | a0001c0026t0001 | a0001c0026t0001g0213 | 1 | 272 | 0.0037 | 20 | c.781 others(35): Show |
PLEKHG1 | ENSG00000120278.17 | transcript | ENST00000696526.1 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PLEKHG1_chr6_150594885_150848665 | 150810514 | A | AAAAGAAA others(13): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02976.hp1 NA18960.hp1 others(2): Show |
a0001a0003a0006 | a0001c0008a0001c0013a0003c0063others(1): Show | a0001c0008t0003a0001c0008t0028a0001c0013t0001others(2): Show | a0001c0008t0003g0039 a0001c0008t0028g0200 a0001c0013t0001g0209 others(2): Show |
5 | 272 | 0.0184 | 20 | c.127 others(37): Show |
PLEKHG1 | ENSG00000120278.17 | transcript | ENST00000696526.1 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |