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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PAWR_chr12_79579879_79695964 | 79613953 | ATATATAT others(34): Show |
A | intron_variant | MODIFIER | NA18946.hp2 NA18965.hp2 NA18967.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0012 | a0002c0002t0001g0196a0002c0002t0001g0220a0002c0002t0001g0226others(2): Show | 5 | 256 | 0.0195 | -41 | c.649 others(56): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 3/6 | chr12 | TogoVar | ||||||
PAWR_chr12_79579879_79695964 | 79613955 | ATATATAT others(34): Show |
A | intron_variant | MODIFIER | HG02071.hp2 HG02886.hp1 HG03486.hp1 |
a0002a0003 | a0002c0002a0003c0004 | a0002c0002t0001a0002c0002t0021a0003c0004t0001 | a0002c0002t0001g0238a0002c0002t0021g0186a0003c0004t0001g0007 | 3 | 256 | 0.0117 | -41 | c.649 others(56): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 3/6 | chr12 | TogoVar | ||||||
PAWR_chr12_79579879_79695964 | 79638868 | ATATATAT others(34): Show |
A | intron_variant | MODIFIER | HG03139.hp1 NA18906.hp2 NA18972.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0172a0002c0002t0001g0211a0002c0002t0001g0212others(1): Show | 4 | 256 | 0.0156 | -41 | c.517 others(60): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 2/6 | chr12 | TogoVar | ||||||
PAX6_chr11_31784026_31816322 | 31794404 | AACACACA others(34): Show |
A | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0065 | 1 | 376 | 0.0027 | -41 | c.724 others(56): Show |
PAX6 | ENSG00000007372.25 | transcript | ENST00000640368.2 | protein_coding | 9/13 | chr11 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100134893 | ATCCTGCA others(34): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG03098.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0017 | 3 | 174 | 0.0172 | -41 | c.301 others(60): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PCDH7_chr4_30715369_31151800 | 31056417 | AAAGAAGG others(34): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0043 | a0001c0001t0001g0012a0001c0001t0043g0009 | 2 | 214 | 0.0094 | -41 | c.339 others(62): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCDH7_chr4_30715369_31151800 | 31056482 | AAAGAAAG others(34): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00609.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0002g0187a0001c0001t0002g0199a0001c0001t0003g0084others(12): Show | 15 | 214 | 0.0701 | -41 | c.339 others(62): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 2/2 | chr4 | TogoVar | ||||||
PCSK2_chr20_17222040_17489578 | 17347851 | AGAAAGAA others(34): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00642.hp2 HG02717.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0011others(1): Show | a0001c0001t0003g0001a0001c0001t0006g0082a0001c0001t0011g0008others(3): Show | 6 | 274 | 0.0219 | -41 | c.283 others(60): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 2/11 | chr20 | TogoVar | ||||||
PCSK2_chr20_17222040_17489578 | 17347855 | AGAAAGAG others(34): Show |
A | intron_variant | MODIFIER | HG01934.hp2 HG02074.hp1 NA18980.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007a0001c0001t0013others(1): Show | a0001c0001t0006g0227a0001c0001t0007g0081a0001c0001t0013g0236others(1): Show | 4 | 274 | 0.0146 | -41 | c.283 others(60): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 2/11 | chr20 | TogoVar | ||||||
PDGFB_chr22_39218359_39249982 | 39247876 | AAAAAAAA others(34): Show |
A | upstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0009 | 1 | 386 | 0.0026 | -41 | c.-39 others(52): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 2895 | chr22 | TogoVar | ||||||
PDIA2_chr16_278164_292215 | 285902 | TCCCAACC others(34): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG01255.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150a0001c0001t0001g0151 | 2 | 436 | 0.0046 | -41 | c.111 others(58): Show |
PDIA2 | ENSG00000185615.16 | transcript | ENST00000219406.11 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PDK2_chr17_50090351_50117152 | 50092635 | GTCTCAGT others(34): Show |
G | upstream_gene_variant | MODIFIER | HG02738.hp1 HG03579.hp2 HG03831.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0028a0001c0002t0008g0070a0001c0002t0008g0072others(1): Show | 4 | 398 | 0.0101 | -41 | c.-28 others(52): Show |
PDK2 | ENSG00000005882.12 | transcript | ENST00000503176.6 | protein_coding | 2715 | chr17 | TogoVar | ||||||
PDSS2_chr6_107147562_107464564 | 107363961 | TTGAGCTA others(34): Show |
T | intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0108 | 1 | 260 | 0.0039 | -41 | c.297 others(60): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
PEPD_chr19_33381950_33526791 | 33393197 | CGGGGTCT others(34): Show |
C | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 314 | 0.0032 | -41 | c.968 others(58): Show |
PEPD | ENSG00000124299.16 | transcript | ENST00000244137.12 | protein_coding | 12/14 | chr19 | TogoVar | ||||||
PEX2_chr8_76975258_77005078 | 77002327 | TAATTTGT others(34): Show |
T | upstream_gene_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0121 | 1 | 412 | 0.0024 | -41 | c.-25 others(52): Show |
PEX2 | ENSG00000164751.15 | transcript | ENST00000357039.9 | protein_coding | 2250 | chr8 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3078954 | AAAAGTGT others(34): Show |
A | intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0320 | 1 | 402 | 0.0025 | -41 | c.113 others(58): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PGAM5_chr12_132705842_132727734 | 132720250 | CCCCCTGG others(34): Show |
C | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0004 | a0001c0004t0019 | a0001c0004t0019g0172 | 1 | 394 | 0.0025 | -41 | c.720 others(56): Show |
PGAM5 | ENSG00000247077.8 | transcript | ENST00000498926.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PGBD5_chr1_230309490_230431332 | 230396231 | CCCCCACA others(34): Show |
C | intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0002 | a0001c0002t0144 | a0001c0002t0144g0249 | 1 | 288 | 0.0035 | -41 | c.331 others(60): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
PGM1_chr1_63588411_63665245 | 63633902 | GTGTGTGT others(34): Show |
G | intron_variant | MODIFIER | HG02451.hp2 HG02965.hp1 HG03139.hp2 others(2): Show |
a0003a0006 | a0003c0003a0006c0007 | a0003c0003t0003a0006c0007t0001 | a0003c0003t0003g0143a0006c0007t0001g0231a0006c0007t0001g0249others(2): Show | 5 | 366 | 0.0137 | -41 | c.683 others(56): Show |
PGM1 | ENSG00000079739.17 | transcript | ENST00000371084.8 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PHEX_chrX_22027325_22256310 | 22230357 | TTACTTTG others(34): Show |
T | intron_variant | MODIFIER | HG02897.hp1 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0119a0001c0001t0162 | a0001c0001t0119g0004a0001c0001t0162g0024 | 2 | 231 | 0.0087 | -41 | c.207 others(60): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 20/21 | chrX | TogoVar | ||||||
PICALM_chr11_85952175_86074084 | 86005417 | AGGCTGGG others(34): Show |
A | intron_variant | MODIFIER | NA18943.hp1 NA18970.hp1 NA18994.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0156a0001c0001t0001g0157others(4): Show | 7 | 358 | 0.0196 | -41 | c.808 others(58): Show |
PICALM | ENSG00000073921.18 | transcript | ENST00000393346.8 | protein_coding | 8/19 | chr11 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88713210 | TGAGAGCC others(34): Show |
T | downstream_gene_variant | MODIFIER | HG01891.hp2 | a0065 | a0065c0095 | a0065c0095t0001 | a0065c0095t0001g0127 | 1 | 282 | 0.0036 | -41 | c.*23 others(52): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 2127 | chr16 | TogoVar | ||||||
PIEZO2_chr18_10665247_11154569 | 10795316 | ATTTTATT others(34): Show |
A | intron_variant | MODIFIER | NA20300.hp2 | a0005 | a0005c0013 | a0005c0013t0002 | a0005c0013t0002g0010 | 1 | 158 | 0.0063 | -41 | c.152 others(58): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 12/55 | chr18 | TogoVar | ||||||
PIEZO2_chr18_10665247_11154569 | 10915927 | ACACAGAG others(34): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(148): Show |
a0001a0002a0003others(29): Show | a0001c0002a0001c0003a0001c0006others(86): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(99): Show | a0001c0002t0001g0096a0001c0002t0001g0108a0001c0002t0001g0128others(148): Show | 151 | 158 | 0.9557 | -41 | c.287 others(58): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 3/55 | chr18 | TogoVar | ||||||
PIGU_chr20_34555542_34682092 | 34631742 | TATATATA others(34): Show |
T | intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 320 | 0.0031 | -41 | c.529 others(58): Show |
PIGU | ENSG00000101464.11 | transcript | ENST00000217446.8 | protein_coding | 6/11 | chr20 | TogoVar | ||||||
PIGU_chr20_34555542_34682092 | 34631749 | ATATATAT others(34): Show |
A | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0003 | 1 | 320 | 0.0031 | -41 | c.529 others(58): Show |
PIGU | ENSG00000101464.11 | transcript | ENST00000217446.8 | protein_coding | 6/11 | chr20 | TogoVar | ||||||
PIGU_chr20_34555542_34682092 | 34631763 | ATATATAT others(34): Show |
A | intron_variant | MODIFIER | HG02056.hp2 NA18973.hp1 NA18984.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069a0001c0001t0001g0076a0001c0001t0001g0082 | 3 | 320 | 0.0094 | -41 | c.529 others(58): Show |
PIGU | ENSG00000101464.11 | transcript | ENST00000217446.8 | protein_coding | 6/11 | chr20 | TogoVar | ||||||
PIGU_chr20_34555542_34682092 | 34631765 | ATATATAT others(34): Show |
A | intron_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 320 | 0.0031 | -41 | c.529 others(58): Show |
PIGU | ENSG00000101464.11 | transcript | ENST00000217446.8 | protein_coding | 6/11 | chr20 | TogoVar | ||||||
PIGZ_chr3_196941356_196973833 | 196970432 | ATGCCCGG others(34): Show |
A | upstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0222 | 1 | 424 | 0.0024 | -41 | c.-17 others(52): Show |
PIGZ | ENSG00000119227.8 | transcript | ENST00000412723.6 | protein_coding | 1600 | chr3 | TogoVar | ||||||
PIK3CB_chr3_138647698_138839928 | 138693936 | AATATATA others(34): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG01106.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148a0001c0001t0001g0164 | 2 | 206 | 0.0097 | -41 | c.189 others(58): Show |
PIK3CB | ENSG00000051382.9 | transcript | ENST00000674063.1 | protein_coding | 14/23 | chr3 | TogoVar | ||||||
PIK3R6_chr17_8797722_8872674 | 8827742 | GGAGAGAG others(34): Show |
G | intron_variant | MODIFIER | HG02970.hp2 HG02976.hp1 HG03195.hp1 |
a0001a0003 | a0001c0005a0003c0004 | a0001c0005t0001a0003c0004t0001 | a0001c0005t0001g0341a0003c0004t0001g0206a0003c0004t0001g0218 | 3 | 354 | 0.0085 | -41 | c.139 others(58): Show |
PIK3R6 | ENSG00000276231.5 | transcript | ENST00000619866.5 | protein_coding | 12/19 | chr17 | TogoVar | ||||||
PIKFYVE_chr2_208261255_208363746 | 208264088 | AAGATGTG others(34): Show |
A | upstream_gene_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 288 | 0.0035 | -41 | c.-23 others(52): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 2166 | chr2 | TogoVar | ||||||
PIWIL1_chr12_130332887_130377637 | 130338422 | GGGGGCGA others(34): Show |
G | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0083 | 1 | 425 | 0.0024 | -41 | c.-13 others(56): Show |
PIWIL1 | ENSG00000125207.7 | transcript | ENST00000245255.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PIWIL1_chr12_130332887_130377637 | 130338464 | GGGGGCGA others(34): Show |
G | intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0002 | a0001c0002t0028 | a0001c0002t0028g0333 | 1 | 425 | 0.0024 | -41 | c.-13 others(56): Show |
PIWIL1 | ENSG00000125207.7 | transcript | ENST00000245255.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PIWIL1_chr12_130332887_130377637 | 130338548 | GGGGGCGA others(34): Show |
G | intron_variant | MODIFIER | HG01361.hp2 NA18947.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0023 | a0001c0001t0001g0234a0001c0001t0023g0233 | 2 | 425 | 0.0047 | -41 | c.-13 others(56): Show |
PIWIL1 | ENSG00000125207.7 | transcript | ENST00000245255.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PIWIL1_chr12_130332887_130377637 | 130338590 | GGGGGCGA others(34): Show |
G | intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 | 1 | 425 | 0.0024 | -41 | c.-13 others(56): Show |
PIWIL1 | ENSG00000125207.7 | transcript | ENST00000245255.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PKD2L1_chr10_100283149_100335228 | 100314993 | AGGAAGGA others(34): Show |
A | intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 306 | 0.0033 | -41 | c.349 others(60): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
PKHD1_chr6_51610299_52092613 | 51791953 | AAGCTATC others(34): Show |
A | intron_variant | MODIFIER | HG03486.hp1 | a0009 | a0009c0056 | a0009c0056t0001 | a0009c0056t0001g0073 | 1 | 134 | 0.0075 | -41 | c.830 others(58): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 52/66 | chr6 | TogoVar | ||||||
PLA2G5_chr1_20065194_20096911 | 20087511 | AGTCTCCC others(34): Show |
A | intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 430 | 0.0023 | -41 | c.185 others(58): Show |
PLA2G5 | ENSG00000127472.11 | transcript | ENST00000375108.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PLCXD1_chrX_276381_308356 | 298102 | GTCTATCA others(34): Show |
G | intron_variant | MODIFIER | HG02080.hp1 NA18988.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0019 | a0001c0001t0005g0038a0001c0002t0019g0130 | 2 | 176 | 0.0114 | -41 | c.734 others(56): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PLCXD1_chrX_276381_308356 | 298151 | GTCTATCA others(34): Show |
G | intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0066 | a0001c0001t0066g0161 | 1 | 176 | 0.0057 | -41 | c.734 others(56): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PLCXD1_chrX_276381_308356 | 298249 | GTCTATCA others(34): Show |
G | intron_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0002 | a0001c0002t0076 | a0001c0002t0076g0107 | 1 | 176 | 0.0057 | -41 | c.734 others(56): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PLD1_chr3_171595404_171815483 | 171764920 | GAAAGGAA others(34): Show |
G | intron_variant | MODIFIER | HG00621.hp2 HG01516.hp1 |
a0002 | a0002c0003 | a0002c0003t0003a0002c0003t0015 | a0002c0003t0003g0158a0002c0003t0015g0040 | 2 | 294 | 0.0068 | -41 | c.-31 others(60): Show |
PLD1 | ENSG00000075651.17 | transcript | ENST00000351298.9 | protein_coding | 1/26 | chr3 | TogoVar | ||||||
PLEK2_chr14_67381984_67417165 | 67398551 | TACCCTTC others(34): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp1 others(114): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0009a0002c0003others(2): Show | a0001c0001t0001a0001c0009t0001a0002c0003t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0012others(76): Show | 117 | 354 | 0.3305 | -41 | c.43- others(54): Show |
PLEK2 | ENSG00000100558.9 | transcript | ENST00000216446.9 | protein_coding | 1/8 | chr14 | TogoVar | ||||||
PLEK2_chr14_67381984_67417165 | 67399404 | CTCAGGTG others(34): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG03688.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075a0001c0001t0001g0076a0001c0001t0001g0209 | 3 | 354 | 0.0085 | -41 | c.43- others(56): Show |
PLEK2 | ENSG00000100558.9 | transcript | ENST00000216446.9 | protein_coding | 1/8 | chr14 | TogoVar | ||||||
PLEK2_chr14_67381984_67417165 | 67399566 | GTCAGGTG others(34): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp1 others(112): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0003a0005c0006others(1): Show | a0001c0001t0001a0002c0003t0001a0005c0006t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0012others(73): Show | 115 | 354 | 0.3249 | -41 | c.43- others(56): Show |
PLEK2 | ENSG00000100558.9 | transcript | ENST00000216446.9 | protein_coding | 1/8 | chr14 | TogoVar | ||||||
PLEK2_chr14_67381984_67417165 | 67399646 | TTCTCAGG others(34): Show |
T | intron_variant | MODIFIER | HG01074.hp1 HG02723.hp1 HG02886.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0024a0001c0001t0001g0050a0001c0001t0001g0073others(2): Show | 6 | 354 | 0.0170 | -41 | c.43- others(56): Show |
PLEK2 | ENSG00000100558.9 | transcript | ENST00000216446.9 | protein_coding | 1/8 | chr14 | TogoVar | ||||||
PLEK2_chr14_67381984_67417165 | 67399717 | GGTTTAGG others(34): Show |
G | intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 354 | 0.0028 | -41 | c.43- others(56): Show |
PLEK2 | ENSG00000100558.9 | transcript | ENST00000216446.9 | protein_coding | 1/8 | chr14 | TogoVar | ||||||
PLEKHA7_chr11_16772297_17019414 | 16907406 | CGGCCAGC others(34): Show |
C | intron_variant | MODIFIER | HG01168.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0107a0001c0001t0003g0155 | 2 | 244 | 0.0082 | -41 | c.222 others(60): Show |
PLEKHA7 | ENSG00000166689.18 | transcript | ENST00000531066.6 | protein_coding | 3/26 | chr11 | TogoVar | ||||||
PLEKHA8_chr7_30023412_30089650 | 30056319 | TATATATA others(34): Show |
T | intron_variant | MODIFIER | NA18990.hp1 NA19079.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0180a0001c0002t0003g0182 | 2 | 234 | 0.0086 | -41 | c.103 others(59): Show |
PLEKHA8 | ENSG00000106086.21 | transcript | ENST00000449726.6 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |