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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PLD1_chr3_171595404_171815483 | 171639541 | A | ATAATATA others(25): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0172 | 1 | 294 | 0.0034 | 32 | c.259 others(51): Show |
PLD1 | ENSG00000075651.17 | transcript | ENST00000351298.9 | protein_coding | 23/26 | chr3 | TogoVar | ||||||
PLD1_chr3_171595404_171815483 | 171639598 | C | CATATAAT others(25): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02615.hp2 HG02809.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0023a0001c0001t0025 | a0001c0001t0001g0046a0001c0001t0001g0060a0001c0001t0001g0080others(3): Show | 6 | 294 | 0.0204 | 32 | c.259 others(51): Show |
PLD1 | ENSG00000075651.17 | transcript | ENST00000351298.9 | protein_coding | 23/26 | chr3 | TogoVar | ||||||
PLD1_chr3_171595404_171815483 | 171764878 | A | AGAAAGAA others(25): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0269 | 1 | 294 | 0.0034 | 32 | c.-31 others(51): Show |
PLD1 | ENSG00000075651.17 | transcript | ENST00000351298.9 | protein_coding | 1/26 | chr3 | TogoVar | ||||||
PLD5_chr1_242077986_242529697 | 242337258 | T | TCATGAGG others(25): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00438.hp2 others(105): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(54): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0006others(105): Show | 108 | 188 | 0.5745 | 32 | c.326 others(51): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 2/9 | chr1 | TogoVar | ||||||
PLEKHA5_chr12_19124733_19381400 | 19231604 | A | ATGTATAT others(25): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02572.hp1 HG03139.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0126a0001c0001t0006g0138a0001c0001t0006g0150others(1): Show | 4 | 316 | 0.0127 | 32 | c.228 others(51): 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(25): Show |
intron_variant | MODIFIER | HG02723.hp2 NA18948.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0079a0001c0001t0005g0071 | 2 | 316 | 0.0063 | 32 | c.228 others(47): 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(25): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0063 | 1 | 316 | 0.0032 | 32 | c.244 others(51): Show |
PLEKHA5 | ENSG00000052126.17 | transcript | ENST00000429027.7 | protein_coding | 20/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PLEKHG1_chr6_150594885_150848665 | 150628527 | A | AACACACA others(25): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0002 | a0002c0010 | a0002c0010t0001 | a0002c0010t0001g0066 | 1 | 272 | 0.0037 | 32 | c.-15 others(53): 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(25): Show |
intron_variant | MODIFIER | HG03927.hp2 NA18954.hp1 |
a0001a0002 | a0001c0001a0002c0009 | a0001c0001t0002a0002c0009t0001 | a0001c0001t0002g0008a0002c0009t0001g0216 | 2 | 272 | 0.0074 | 32 | c.-15 others(53): Show |
PLEKHG1 | ENSG00000120278.17 | transcript | ENST00000696526.1 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PLEKHG1_chr6_150594885_150848665 | 150804155 | T | TTATATAT others(25): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0023 | a0001c0023t0012 | a0001c0023t0012g0144 | 1 | 272 | 0.0037 | 32 | c.781 others(47): Show |
PLEKHG1 | ENSG00000120278.17 | transcript | ENST00000696526.1 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PLEKHG1_chr6_150594885_150848665 | 150804175 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG03540.hp1 NA18970.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0014 | a0001c0002t0001g0218a0001c0002t0014g0119 | 2 | 272 | 0.0074 | 32 | c.781 others(47): Show |
PLEKHG1 | ENSG00000120278.17 | transcript | ENST00000696526.1 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PLEKHG1_chr6_150594885_150848665 | 150804175 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG02040.hp1 HG03130.hp1 NA18984.hp2 |
a0001 | a0001c0001a0001c0008a0001c0012 | a0001c0001t0002a0001c0008t0001a0001c0012t0001 | a0001c0001t0002g0223a0001c0008t0001g0251a0001c0012t0001g0265 | 3 | 272 | 0.0110 | 32 | c.781 others(47): Show |
PLEKHG1 | ENSG00000120278.17 | transcript | ENST00000696526.1 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PLEKHG1_chr6_150594885_150848665 | 150804175 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0006 | a0001c0006t0004 | a0001c0006t0004g0037 | 1 | 272 | 0.0037 | 32 | c.781 others(47): Show |
PLEKHG1 | ENSG00000120278.17 | transcript | ENST00000696526.1 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PLEKHG1_chr6_150594885_150848665 | 150804175 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0011 | a0011c0042 | a0011c0042t0001 | a0011c0042t0001g0011 | 1 | 272 | 0.0037 | 32 | c.781 others(47): 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(25): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02723.hp1 HG03834.hp1 others(1): Show |
a0001a0004 | a0001c0002a0001c0023a0001c0037others(1): Show | a0001c0002t0001a0001c0023t0012a0001c0037t0021others(1): Show | a0001c0002t0001g0091a0001c0023t0012g0144a0001c0037t0021g0181others(1): Show | 4 | 272 | 0.0147 | 32 | c.127 others(49): Show |
PLEKHG1 | ENSG00000120278.17 | transcript | ENST00000696526.1 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PLEKHG1_chr6_150594885_150848665 | 150810543 | A | AAAGAAAG others(25): Show |
intron_variant | MODIFIER | HG01192.hp1 NA18962.hp2 |
a0001a0004 | a0001c0001a0004c0015 | a0001c0001t0001a0004c0015t0007 | a0001c0001t0001g0030a0004c0015t0007g0256 | 2 | 272 | 0.0074 | 32 | c.127 others(49): Show |
PLEKHG1 | ENSG00000120278.17 | transcript | ENST00000696526.1 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PLEKHG3_chr14_64699424_64755249 | 64704384 | C | CCTCCCTC others(25): Show |
upstream_gene_variant | MODIFIER | HG01071.hp1 NA18939.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0098a0001c0001t0003g0185 | 2 | 248 | 0.0081 | 32 | c.-36 others(41): Show |
PLEKHG3 | ENSG00000126822.18 | transcript | ENST00000247226.13 | protein_coding | 39 | chr14 | TogoVar | ||||||
PLEKHG3_chr14_64699424_64755249 | 64751927 | C | CAAAAAAA others(25): Show |
downstream_gene_variant | MODIFIER | HG01261.hp2 HG03491.hp1 |
a0002 | a0002c0004 | a0002c0004t0007 | a0002c0004t0007g0020a0002c0004t0007g0023 | 2 | 248 | 0.0081 | 32 | c.*82 others(43): Show |
PLEKHG3 | ENSG00000126822.18 | transcript | ENST00000247226.13 | protein_coding | 1679 | chr14 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 164488 | C | CTAATGCT others(25): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0014 | a0014c0065 | a0014c0065t0038 | a0014c0065t0038g0166 | 1 | 210 | 0.0048 | 32 | c.347 others(49): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PLEKHG4B_chr5_87168_194966 | 164607 | T | TCACACAG others(25): Show |
intron_variant | MODIFIER | HG02735.hp2 HG02818.hp1 HG03669.hp1 |
a0002a0022a0024 | a0002c0003a0022c0046a0024c0042 | a0002c0003t0135a0022c0046t0047a0024c0042t0006 | a0002c0003t0135g0128a0022c0046t0047g0180a0024c0042t0006g0012 | 3 | 210 | 0.0143 | 32 | c.347 others(51): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PLEKHG4B_chr5_87168_194966 | 165008 | T | TCACACTA others(25): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0015 | a0015c0076 | a0015c0076t0067 | a0015c0076t0067g0192 | 1 | 210 | 0.0048 | 32 | c.347 others(51): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PLEKHG4B_chr5_87168_194966 | 165178 | T | TCACACTA others(25): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0015 | a0015c0077 | a0015c0077t0053 | a0015c0077t0053g0181 | 1 | 210 | 0.0048 | 32 | c.347 others(51): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PLEKHG4B_chr5_87168_194966 | 165211 | C | CTAATGCT others(25): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0011 | a0011c0023 | a0011c0023t0044 | a0011c0023t0044g0187 | 1 | 210 | 0.0048 | 32 | c.347 others(51): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PLEKHG4B_chr5_87168_194966 | 165405 | C | CTAATGCT others(25): Show |
intron_variant | MODIFIER | HG02145.hp1 homoSapiens_chm13v2.hp1 |
a0004a0016 | a0004c0006a0016c0018 | a0004c0006t0134a0016c0018t0003 | a0004c0006t0134g0011a0016c0018t0003g0005 | 2 | 210 | 0.0095 | 32 | c.347 others(51): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PLEKHG4B_chr5_87168_194966 | 165489 | C | CTAATGCT others(25): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0018 | a0018c0022 | a0018c0022t0011 | a0018c0022t0011g0195 | 1 | 210 | 0.0048 | 32 | c.347 others(51): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PLEKHG4B_chr5_87168_194966 | 165932 | T | TCACACTA others(25): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0016 | a0016c0018 | a0016c0018t0034 | a0016c0018t0034g0004 | 1 | 210 | 0.0048 | 32 | c.347 others(51): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PLEKHG4B_chr5_87168_194966 | 166296 | T | TCACACTA others(25): Show |
intron_variant | MODIFIER | NA18973.hp1 NA18979.hp1 |
a0012 | a0012c0013 | a0012c0013t0009 | a0012c0013t0009g0016a0012c0013t0009g0019 | 2 | 210 | 0.0095 | 32 | c.347 others(51): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PLEKHG5_chr1_6462122_6496667 | 6477752 | C | CTGCTCCG others(25): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02572.hp1 others(20): Show |
a0002a0003a0004others(6): Show | a0002c0008a0002c0032a0003c0004others(8): Show | a0002c0008t0001a0002c0032t0007a0003c0004t0002others(8): Show | a0002c0008t0001g0059a0002c0008t0001g0099a0002c0008t0001g0118others(18): Show | 23 | 288 | 0.0799 | 32 | c.-87 others(45): Show |
PLEKHG5 | ENSG00000171680.23 | transcript | ENST00000377728.8 | protein_coding | 1/20 | chr1 | TogoVar | ||||||
PLEKHH2_chr2_43632260_43772987 | 43636568 | A | ATATATAT others(25): Show |
upstream_gene_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0032 | a0001c0032t0002 | a0001c0032t0002g0249 | 1 | 256 | 0.0039 | 32 | c.-81 others(41): Show |
PLEKHH2 | ENSG00000152527.14 | transcript | ENST00000282406.9 | protein_coding | 691 | chr2 | TogoVar | ||||||
PLEKHH2_chr2_43632260_43772987 | 43636568 | A | ATATATAT others(25): Show |
upstream_gene_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0043 | a0001c0043t0004 | a0001c0043t0004g0247 | 1 | 256 | 0.0039 | 32 | c.-81 others(41): Show |
PLEKHH2 | ENSG00000152527.14 | transcript | ENST00000282406.9 | protein_coding | 691 | chr2 | TogoVar | ||||||
PLEKHH2_chr2_43632260_43772987 | 43636568 | A | ATATATAT others(25): Show |
upstream_gene_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0220 | 1 | 256 | 0.0039 | 32 | c.-81 others(41): Show |
PLEKHH2 | ENSG00000152527.14 | transcript | ENST00000282406.9 | protein_coding | 691 | chr2 | TogoVar | ||||||
PLEKHH2_chr2_43632260_43772987 | 43636568 | A | ATATATAT others(25): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 HG02647.hp1 |
a0003 | a0003c0004 | a0003c0004t0002a0003c0004t0017 | a0003c0004t0002g0248a0003c0004t0017g0117 | 2 | 256 | 0.0078 | 32 | c.-81 others(41): Show |
PLEKHH2 | ENSG00000152527.14 | transcript | ENST00000282406.9 | protein_coding | 691 | chr2 | TogoVar | ||||||
PLEKHH2_chr2_43632260_43772987 | 43636568 | A | ATATATAT others(25): Show |
upstream_gene_variant | MODIFIER | HG01106.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0116 | 1 | 256 | 0.0039 | 32 | c.-81 others(41): Show |
PLEKHH2 | ENSG00000152527.14 | transcript | ENST00000282406.9 | protein_coding | 691 | chr2 | TogoVar | ||||||
PLEKHM3_chr2_207816288_208030527 | 207865801 | A | AAAAAAAA others(25): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0083 | 1 | 200 | 0.0050 | 32 | c.195 others(51): Show |
PLEKHM3 | ENSG00000178385.15 | transcript | ENST00000427836.8 | protein_coding | 6/7 | chr2 | TogoVar | ||||||
PLEKHN1_chr1_961482_980865 | 976708 | A | ACCCCCAC others(25): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0019 | 1 | 422 | 0.0024 | 32 | c.*21 others(43): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 844 | chr1 | TogoVar | ||||||
PLEKHN1_chr1_961482_980865 | 976938 | G | GCCAACCC others(25): Show |
downstream_gene_variant | MODIFIER | HG00733.hp2 HG01433.hp1 |
a0003a0005 | a0003c0003a0005c0014 | a0003c0003t0011a0005c0014t0005 | a0003c0003t0011g0099a0005c0014t0005g0061 | 2 | 422 | 0.0047 | 32 | c.*23 others(43): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1074 | chr1 | TogoVar | ||||||
PLEKHN1_chr1_961482_980865 | 977001 | G | GCAACCCC others(25): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0010 | 1 | 422 | 0.0024 | 32 | c.*24 others(43): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1137 | chr1 | TogoVar | ||||||
PLEKHN1_chr1_961482_980865 | 977084 | C | CCCACTCC others(25): Show |
downstream_gene_variant | MODIFIER | NA19003.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0003 | 1 | 422 | 0.0024 | 32 | c.*25 others(43): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1220 | chr1 | TogoVar | ||||||
PLEKHN1_chr1_961482_980865 | 977096 | G | GCAACCCC others(25): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 HG02258.hp1 HG02630.hp2 others(4): Show |
a0001a0003 | a0001c0001a0001c0009a0001c0012others(2): Show | a0001c0001t0005a0001c0009t0027a0001c0012t0013others(2): Show | a0001c0001t0005g0160a0001c0009t0027g0095a0001c0012t0013g0066others(3): Show | 7 | 422 | 0.0166 | 32 | c.*25 others(43): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1232 | chr1 | TogoVar | ||||||
PLEKHN1_chr1_961482_980865 | 977247 | C | CTCCCCCC others(25): Show |
downstream_gene_variant | MODIFIER | HG01943.hp2 HG01975.hp1 HG02257.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0054 | 4 | 422 | 0.0095 | 32 | c.*26 others(43): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1383 | chr1 | TogoVar | ||||||
PLEKHN1_chr1_961482_980865 | 977247 | C | CTCCCCCC others(25): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 HG02970.hp2 HG03041.hp2 others(1): Show |
a0001a0007 | a0001c0001a0007c0026 | a0001c0001t0002a0007c0026t0002 | a0001c0001t0002g0009a0007c0026t0002g0038 | 4 | 422 | 0.0095 | 32 | c.*26 others(43): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1383 | chr1 | TogoVar | ||||||
PLEKHN1_chr1_961482_980865 | 977316 | G | GCAACCCC others(25): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 HG02257.hp2 HG02280.hp2 others(4): Show |
a0001a0003 | a0001c0001a0001c0011a0001c0024others(1): Show | a0001c0001t0020a0001c0011t0005a0001c0024t0005others(3): Show | a0001c0001t0020g0019a0001c0011t0005g0092a0001c0024t0005g0044others(4): Show | 7 | 422 | 0.0166 | 32 | c.*27 others(43): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1452 | chr1 | TogoVar | ||||||
PLEKHN1_chr1_961482_980865 | 977677 | G | GGAACCGC others(25): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 NA18522.hp1 NA18957.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0011a0002c0002 | a0001c0001t0005a0001c0011t0005a0002c0002t0002 | a0001c0001t0005g0159a0001c0011t0005g0009a0002c0002t0002g0003 | 4 | 422 | 0.0095 | 32 | c.*31 others(43): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1813 | chr1 | TogoVar | ||||||
PLEKHN1_chr1_961482_980865 | 977844 | C | CCCACCAA others(25): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 | a0014 | a0014c0040 | a0014c0040t0001 | a0014c0040t0001g0034 | 1 | 422 | 0.0024 | 32 | c.*32 others(43): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1980 | chr1 | TogoVar | ||||||
PLEKHS1_chr10_113746682_113788429 | 113773444 | A | ATAAATAA others(25): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0003 | a0003c0005 | a0003c0005t0009 | a0003c0005t0009g0149 | 1 | 402 | 0.0025 | 32 | c.673 others(47): Show |
PLEKHS1 | ENSG00000148735.16 | transcript | ENST00000694986.1 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PLGRKT_chr9_5352971_5442925 | 5424668 | T | TTATATAT others(25): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03453.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146a0001c0001t0001g0149a0001c0001t0001g0340 | 3 | 414 | 0.0073 | 32 | c.81+ others(47): Show |
PLGRKT | ENSG00000107020.10 | transcript | ENST00000223864.7 | protein_coding | 3/5 | chr9 | TogoVar | ||||||
PLGRKT_chr9_5352971_5442925 | 5424691 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | NA18983.hp1 NA18990.hp1 NA19067.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0353a0001c0001t0001g0362a0001c0001t0001g0364others(2): Show | 5 | 414 | 0.0121 | 32 | c.81+ others(47): Show |
PLGRKT | ENSG00000107020.10 | transcript | ENST00000223864.7 | protein_coding | 3/5 | chr9 | TogoVar | ||||||
PLGRKT_chr9_5352971_5442925 | 5424691 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG03130.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0317a0001c0001t0001g0328 | 2 | 414 | 0.0048 | 32 | c.81+ others(47): Show |
PLGRKT | ENSG00000107020.10 | transcript | ENST00000223864.7 | protein_coding | 3/5 | chr9 | TogoVar | ||||||
PLG_chr6_160697244_160759097 | 160748348 | A | AAGAGAAA others(25): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 384 | 0.0026 | 32 | c.212 others(51): Show |
PLG | ENSG00000122194.20 | transcript | ENST00000308192.14 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PLG_chr6_160697244_160759097 | 160748348 | A | AAGAGAAA others(25): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0129 | 1 | 384 | 0.0026 | 32 | c.212 others(51): Show |
PLG | ENSG00000122194.20 | transcript | ENST00000308192.14 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |