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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PCDHGA3_chr5_141338829_141517975 | 141347160 | T | TTTCTTTC others(19): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 270 | 0.0037 | 26 | c.242 others(43): Show |
PCDHGA3 | ENSG00000254245.3 | transcript | ENST00000253812.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGA3_chr5_141338829_141517975 | 141379889 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | NA18906.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022a0001c0001t0001g0270 | 2 | 270 | 0.0074 | 26 | c.242 others(47): Show |
PCDHGA3 | ENSG00000254245.3 | transcript | ENST00000253812.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGA4_chr5_141350021_141517975 | 141379889 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | NA18906.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0102 | 2 | 274 | 0.0073 | 26 | c.251 others(47): Show |
PCDHGA4 | ENSG00000262576.3 | transcript | ENST00000571252.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGA5_chr5_141359162_141517975 | 141379889 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | NA18906.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097a0001c0001t0001g0098 | 2 | 292 | 0.0069 | 26 | c.242 others(47): Show |
PCDHGA5 | ENSG00000253485.3 | transcript | ENST00000518069.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGA6_chr5_141368891_141517975 | 141379889 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | NA18906.hp1 NA19240.hp1 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0045a0001c0007t0001g0046 | 2 | 292 | 0.0069 | 26 | c.242 others(45): Show |
PCDHGA6 | ENSG00000253731.3 | transcript | ENST00000517434.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGA7_chr5_141377742_141517975 | 141379889 | C | CTTTTTTT others(19): Show |
upstream_gene_variant | MODIFIER | NA18906.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219a0001c0001t0001g0220 | 2 | 292 | 0.0069 | 26 | c.-30 others(37): Show |
PCDHGA7 | ENSG00000253537.3 | transcript | ENST00000518325.2 | protein_coding | 2852 | chr5 | TogoVar | ||||||
PCDHGB1_chr5_141345099_141517975 | 141379889 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | NA18906.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099a0001c0001t0001g0162 | 2 | 278 | 0.0072 | 26 | c.240 others(47): Show |
PCDHGB1 | ENSG00000254221.3 | transcript | ENST00000523390.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB2_chr5_141354994_141517975 | 141379889 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | NA18906.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088a0001c0001t0001g0089 | 2 | 288 | 0.0069 | 26 | c.242 others(47): Show |
PCDHGB2 | ENSG00000253910.3 | transcript | ENST00000522605.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB3_chr5_141365242_141517975 | 141379889 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | NA18906.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231a0001c0001t0001g0232 | 2 | 296 | 0.0068 | 26 | c.241 others(45): Show |
PCDHGB3 | ENSG00000262209.3 | transcript | ENST00000576222.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCED1B_chr12_47074621_47241660 | 47089461 | C | CATGTATA others(19): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0198 | 1 | 322 | 0.0031 | 26 | c.-60 others(45): Show |
PCED1B | ENSG00000179715.13 | transcript | ENST00000546455.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PCED1B_chr12_47074621_47241660 | 47217458 | A | AAAAGAAA others(19): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 322 | 0.0031 | 26 | c.-58 others(41): Show |
PCED1B | ENSG00000179715.13 | transcript | ENST00000546455.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PCGF3_chr4_700832_775089 | 713231 | C | CTATGTGG others(19): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0006 | 1 | 366 | 0.0027 | 26 | c.-19 others(45): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCGF5_chr10_91215663_91289337 | 91225230 | C | CATATATG others(19): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 318 | 0.0031 | 26 | c.112 others(43): Show |
PCGF5 | ENSG00000180628.15 | transcript | ENST00000336126.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PCGF5_chr10_91215663_91289337 | 91238603 | T | TTCTTTCT others(19): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0191 | 1 | 318 | 0.0031 | 26 | c.113 others(43): Show |
PCGF5 | ENSG00000180628.15 | transcript | ENST00000336126.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PCLAF_chr15_64359304_64386441 | 64377488 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0081 | 1 | 298 | 0.0034 | 26 | c.128 others(41): Show |
PCLAF | ENSG00000166803.14 | transcript | ENST00000300035.9 | protein_coding | 2/3 | chr15 | TogoVar | ||||||
PCLAF_chr15_64359304_64386441 | 64377488 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0063 | 1 | 298 | 0.0034 | 26 | c.128 others(41): Show |
PCLAF | ENSG00000166803.14 | transcript | ENST00000300035.9 | protein_coding | 2/3 | chr15 | TogoVar | ||||||
PCLO_chr7_82749012_83167884 | 82751473 | A | AAAAAAAA others(19): Show |
downstream_gene_variant | MODIFIER | HG02486.hp2 | a0013 | a0013c0082 | a0013c0082t0022 | a0013c0082t0022g0002 | 1 | 188 | 0.0053 | 26 | c.*71 others(37): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 2538 | chr7 | TogoVar | ||||||
PCLO_chr7_82749012_83167884 | 83038013 | A | ATTTATAT others(19): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0066 | a0066c0105 | a0066c0105t0012 | a0066c0105t0012g0067 | 1 | 188 | 0.0053 | 26 | c.330 others(47): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | ||||||
PCLO_chr7_82749012_83167884 | 83057348 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0018 | a0001c0018t0003 | a0001c0018t0003g0018 | 1 | 188 | 0.0053 | 26 | c.330 others(47): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | ||||||
PCLO_chr7_82749012_83167884 | 83059357 | A | AATATATA others(19): Show |
intron_variant | MODIFIER | HG01081.hp1 NA18981.hp1 |
a0002 | a0002c0004a0002c0064 | a0002c0004t0004a0002c0064t0009 | a0002c0004t0004g0145a0002c0064t0009g0031 | 2 | 188 | 0.0106 | 26 | c.330 others(47): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | ||||||
PCLO_chr7_82749012_83167884 | 83093472 | G | GTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG00099.hp1 HG02976.hp1 HG03492.hp2 others(1): Show |
a0015a0057a0073 | a0015c0094a0015c0095a0057c0055others(1): Show | a0015c0094t0009a0015c0095t0001a0057c0055t0001others(1): Show | a0015c0094t0009g0188a0015c0095t0001g0187a0057c0055t0001g0151others(1): Show | 4 | 188 | 0.0213 | 26 | c.330 others(47): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | ||||||
PCLO_chr7_82749012_83167884 | 83134242 | T | TATATATA others(19): Show |
splice_region_variant others(1): Show |
LOW | HG02738.hp1 NA18981.hp2 NA19010.hp1 others(2): Show |
a0003a0005 | a0003c0022a0003c0023a0003c0085others(1): Show | a0003c0022t0003a0003c0023t0002a0003c0085t0035others(1): Show | a0003c0022t0003g0166a0003c0022t0003g0167a0003c0023t0002g0165others(2): Show | 5 | 188 | 0.0266 | 26 | c.330 others(39): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | ||||||
PCNA_chr20_5109953_5124958 | 5111607 | T | TAAAAAAA others(19): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 390 | 0.0026 | 26 | c.*36 others(37): Show |
PCNA | ENSG00000132646.11 | transcript | ENST00000379143.10 | protein_coding | 3345 | chr20 | TogoVar | ||||||
PCNP_chr3_101569180_101599465 | 101586571 | T | TGTGTGTG others(19): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02818.hp2 HG03098.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0145a0002c0002t0001g0022 | 4 | 424 | 0.0094 | 26 | c.354 others(43): Show |
PCNP | ENSG00000081154.12 | transcript | ENST00000265260.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 70994396 | G | GATAGATA others(19): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0008 | a0008c0017 | a0008c0017t0034 | a0008c0017t0034g0033 | 1 | 352 | 0.0028 | 26 | c.244 others(45): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 7/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 70994396 | G | GATATATA others(19): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01070.hp2 NA18957.hp2 others(6): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(4): Show | a0001c0001t0001g0169a0001c0001t0001g0192a0001c0001t0001g0209others(6): Show | 9 | 352 | 0.0256 | 26 | c.244 others(45): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 7/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 70994427 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0010 | a0001c0010t0072 | a0001c0010t0072g0350 | 1 | 352 | 0.0028 | 26 | c.244 others(45): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 7/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 71098553 | T | TGTGTGTG others(19): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0008 | a0001c0008t0022 | a0001c0008t0022g0104 | 1 | 352 | 0.0028 | 26 | c.559 others(45): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 30/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 71119426 | G | GTTTTTTT others(19): Show |
downstream_gene_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0061 | 1 | 352 | 0.0028 | 26 | c.*94 others(37): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 4045 | chr14 | TogoVar | ||||||
PCNX1_chr14_70902459_71120382 | 71119428 | C | CTTTTTTT others(19): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG02056.hp2 others(13): Show |
a0001 | a0001c0002a0001c0004a0001c0006 | a0001c0002t0005a0001c0002t0007a0001c0002t0009others(4): Show | a0001c0002t0005g0071a0001c0002t0005g0087a0001c0002t0005g0091others(13): Show | 16 | 352 | 0.0455 | 26 | c.*94 others(37): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 4047 | chr14 | TogoVar | ||||||
PCSK1_chr5_96385333_96438248 | 96425065 | A | AAAGAAAG others(19): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0352 | 1 | 392 | 0.0026 | 26 | c.396 others(41): Show |
PCSK1 | ENSG00000175426.11 | transcript | ENST00000311106.8 | protein_coding | 3/13 | chr5 | TogoVar | ||||||
PCSK2_chr20_17222040_17489578 | 17333910 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(24): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0046a0001c0001t0001g0128a0001c0001t0001g0167others(24): Show | 27 | 274 | 0.0985 | 26 | c.283 others(45): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PCSK2_chr20_17222040_17489578 | 17484865 | G | GATAGAAT others(19): Show |
downstream_gene_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0180 | 1 | 274 | 0.0037 | 26 | c.*27 others(37): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 288 | chr20 | TogoVar | ||||||
PCSK4_chr19_1476428_1495350 | 1493708 | G | GACACACA others(19): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(79): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0015others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(33): Show | 82 | 400 | 0.2050 | 26 | c.-33 others(37): Show |
PCSK4 | ENSG00000115257.15 | transcript | ENST00000300954.10 | protein_coding | 3359 | chr19 | TogoVar | ||||||
PCSK4_chr19_1476428_1495350 | 1493708 | G | GACACACA others(19): Show |
upstream_gene_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 400 | 0.0025 | 26 | c.-33 others(37): Show |
PCSK4 | ENSG00000115257.15 | transcript | ENST00000300954.10 | protein_coding | 3359 | chr19 | TogoVar | ||||||
PCSK5_chr9_75885673_76367975 | 76040325 | G | GTCTCTCT others(19): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0018 | a0018c0089 | a0018c0089t0003 | a0018c0089t0003g0099 | 1 | 166 | 0.0060 | 26 | c.632 others(45): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PCSK5_chr9_75885673_76367975 | 76040387 | C | CTGTCTCT others(19): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0006 | a0006c0012 | a0006c0012t0007 | a0006c0012t0007g0034 | 1 | 166 | 0.0060 | 26 | c.632 others(45): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PCSK5_chr9_75885673_76367975 | 76040395 | C | CTGTCTCT others(19): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0010 | a0010c0018 | a0010c0018t0002 | a0010c0018t0002g0067 | 1 | 166 | 0.0060 | 26 | c.632 others(45): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PCSK6_chr15_101298933_101494707 | 101311636 | T | TCCCTCAC others(19): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0136 | 1 | 336 | 0.0030 | 26 | c.269 others(45): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 20/21 | chr15 | TogoVar | ||||||
PCSK6_chr15_101298933_101494707 | 101311636 | T | TCCCTCAC others(19): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02717.hp1 |
a0001a0004 | a0001c0001a0004c0014 | a0001c0001t0001a0004c0014t0001 | a0001c0001t0001g0206a0004c0014t0001g0055 | 2 | 336 | 0.0060 | 26 | c.269 others(45): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 20/21 | chr15 | TogoVar | ||||||
PCSK6_chr15_101298933_101494707 | 101311686 | C | CCCCTCAC others(19): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02486.hp1 HG02886.hp2 others(4): Show |
a0001a0002a0007others(1): Show | a0001c0010a0002c0008a0002c0016others(3): Show | a0001c0010t0001a0002c0008t0001a0002c0016t0001others(3): Show | a0001c0010t0001g0287a0001c0010t0001g0297a0002c0008t0001g0020others(4): Show | 7 | 336 | 0.0208 | 26 | c.269 others(45): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 20/21 | chr15 | TogoVar | ||||||
PCSK6_chr15_101298933_101494707 | 101311686 | C | CCCCTCAC others(19): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0065 | 1 | 336 | 0.0030 | 26 | c.269 others(45): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 20/21 | chr15 | TogoVar | ||||||
PCSK6_chr15_101298933_101494707 | 101311736 | C | CCCCTCAC others(19): Show |
intron_variant | MODIFIER | HG01109.hp1 HG03130.hp1 |
a0001a0004 | a0001c0006a0004c0051 | a0001c0006t0001a0004c0051t0001 | a0001c0006t0001g0082a0004c0051t0001g0263 | 2 | 336 | 0.0060 | 26 | c.269 others(45): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 20/21 | chr15 | TogoVar | ||||||
PCSK6_chr15_101298933_101494707 | 101311736 | C | CCCCTCAC others(19): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0005 | a0005c0070 | a0005c0070t0001 | a0005c0070t0001g0328 | 1 | 336 | 0.0030 | 26 | c.269 others(45): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 20/21 | chr15 | TogoVar | ||||||
PCSK6_chr15_101298933_101494707 | 101311761 | C | CCCCTCAC others(19): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0139 | 1 | 336 | 0.0030 | 26 | c.269 others(45): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 20/21 | chr15 | TogoVar | ||||||
PCSK6_chr15_101298933_101494707 | 101311786 | C | CCCCTCAC others(19): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00621.hp2 HG01975.hp2 others(12): Show |
a0001a0003a0005others(2): Show | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0001a0001c0002t0004a0001c0004t0004others(8): Show | a0001c0001t0001g0206a0001c0002t0004g0185a0001c0002t0004g0240others(12): Show | 15 | 336 | 0.0446 | 26 | c.269 others(45): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 20/21 | chr15 | TogoVar | ||||||
PCSK6_chr15_101298933_101494707 | 101311861 | C | CCCCTCAC others(19): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0004 | a0004c0014 | a0004c0014t0001 | a0004c0014t0001g0055 | 1 | 336 | 0.0030 | 26 | c.269 others(45): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 20/21 | chr15 | TogoVar | ||||||
PCSK6_chr15_101298933_101494707 | 101312114 | C | CCCCTCAC others(19): Show |
intron_variant | MODIFIER | NA18941.hp1 NA18942.hp1 NA18952.hp1 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0186a0001c0001t0001g0217a0001c0005t0001g0193others(1): Show | 4 | 336 | 0.0119 | 26 | c.269 others(45): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 20/21 | chr15 | TogoVar | ||||||
PCSK6_chr15_101298933_101494707 | 101312114 | C | CCCCTCAC others(19): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0057 | a0001c0057t0004 | a0001c0057t0004g0222 | 1 | 336 | 0.0030 | 26 | c.269 others(45): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 20/21 | chr15 | TogoVar | ||||||
PCSK6_chr15_101298933_101494707 | 101412691 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | HG01358.hp1 HG02280.hp1 HG03471.hp2 |
a0001a0002 | a0001c0003a0001c0006a0002c0008 | a0001c0003t0007a0001c0006t0001a0002c0008t0001 | a0001c0003t0007g0141a0001c0006t0001g0111a0002c0008t0001g0026 | 3 | 336 | 0.0089 | 26 | c.824 others(45): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 6/21 | chr15 | TogoVar |