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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEP112_chr17_65630537_66197133 | 65870065 | G | GAAAGAAA others(6): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02717.hp1 NA19056.hp2 |
a0002a0003 | a0002c0001a0003c0005 | a0002c0001t0001a0003c0005t0001 | a0002c0001t0001g0018a0002c0001t0001g0065a0003c0005t0001g0055 | 3 | 112 | 0.0268 | 13 | c.216 others(34): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 20/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66195025 | A | AAAAAAAT others(6): Show |
upstream_gene_variant | MODIFIER | HG01258.hp2 HG03492.hp1 HG03688.hp2 |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0001a0002c0001t0001a0002c0001t0008 | a0001c0003t0001g0033a0002c0001t0001g0025a0002c0001t0008g0040 | 3 | 112 | 0.0268 | 13 | c.-30 others(24): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 2893 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66195025 | A | AAAAATAT others(6): Show |
upstream_gene_variant | MODIFIER | HG01081.hp1 HG01884.hp1 |
a0001a0002 | a0001c0002a0002c0008 | a0001c0002t0001a0002c0008t0001 | a0001c0002t0001g0088a0002c0008t0001g0030 | 2 | 112 | 0.0179 | 13 | c.-30 others(24): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 2893 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66195025 | A | AAATATAT others(6): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG00735.hp2 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0037a0002c0001t0001g0038 | 2 | 112 | 0.0179 | 13 | c.-30 others(24): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 2893 | chr17 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101938159 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0283 | 1 | 336 | 0.0030 | 13 | c.249 others(30): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP126_chr11_101910010_102006062 | 101938171 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0009 | a0001c0009t0055 | a0001c0009t0055g0304 | 1 | 336 | 0.0030 | 13 | c.249 others(30): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP126_chr11_101910010_102006062 | 101998592 | C | CAAAAAAA others(6): Show |
3_prime_UTR_variant | MODIFIER | HG03209.hp1 HG03486.hp1 NA18991.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0036a0001c0001t0054 | a0001c0001t0022g0265a0001c0001t0022g0273a0001c0001t0036g0303others(1): Show | 4 | 336 | 0.0119 | 13 | c.*95 others(22): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 11/11 | 968 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||
CEP126_chr11_101910010_102006062 | 102003203 | T | TATATATA others(6): Show |
downstream_gene_variant | MODIFIER | NA18987.hp1 | a0002 | a0002c0003 | a0002c0003t0029 | a0002c0003t0029g0026 | 1 | 336 | 0.0030 | 13 | c.*55 others(24): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2142 | chr11 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 102003215 | T | TATATATA others(6): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 HG03225.hp1 |
a0003 | a0003c0004 | a0003c0004t0021a0003c0004t0052 | a0003c0004t0021g0321a0003c0004t0052g0319 | 2 | 336 | 0.0060 | 13 | c.*55 others(24): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2154 | chr11 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80561913 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0010 | a0010c0017 | a0010c0017t0001 | a0010c0017t0001g0007 | 1 | 164 | 0.0061 | 13 | c.285 others(32): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 20/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80563524 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0129 | 1 | 164 | 0.0061 | 13 | c.285 others(32): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 20/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80596819 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02818.hp1 NA19030.hp1 |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0005a0005c0005t0001 | a0001c0001t0005g0053a0005c0005t0001g0055 | 2 | 164 | 0.0122 | 13 | c.280 others(34): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80642089 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02818.hp2 HG02970.hp1 others(4): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0009a0002c0002others(2): Show | a0001c0001t0005a0001c0009t0006a0002c0002t0004others(2): Show | a0001c0001t0005g0058a0001c0001t0005g0059a0001c0009t0006g0153others(4): Show | 7 | 164 | 0.0427 | 13 | c.280 others(34): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80656323 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0008 | a0001c0008t0005 | a0001c0008t0005g0017 | 1 | 164 | 0.0061 | 13 | c.280 others(34): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80673645 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02886.hp1 |
a0001a0012 | a0001c0001a0012c0020 | a0001c0001t0004a0012c0020t0004 | a0001c0001t0004g0162a0012c0020t0004g0163 | 2 | 164 | 0.0122 | 13 | c.280 others(34): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80678045 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0092 | 1 | 164 | 0.0061 | 13 | c.280 others(34): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80729058 | G | GTGTGTGT others(6): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0099 | 1 | 164 | 0.0061 | 13 | c.280 others(34): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80732520 | G | GTGTGTGT others(6): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0080 | 1 | 164 | 0.0061 | 13 | c.280 others(34): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80805045 | G | GCCACCTC others(6): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 164 | 0.0061 | 13 | c.121 others(34): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 13/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80810323 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01109.hp2 HG03490.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0020a0001c0001t0001g0022others(5): Show | 8 | 164 | 0.0488 | 13 | c.121 others(34): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 13/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80821934 | C | CGTCTGAC others(6): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00733.hp2 others(106): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0008a0001c0009others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0012others(106): Show | 109 | 164 | 0.6646 | 13 | c.120 others(32): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 13/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80935646 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0127 | 1 | 164 | 0.0061 | 13 | c.-16 others(30): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 2/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80946348 | A | ATCATGAT others(6): Show |
upstream_gene_variant | MODIFIER | HG01081.hp1 HG03139.hp1 NA18942.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0005g0002others(2): Show | 5 | 164 | 0.0305 | 13 | c.-49 others(24): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 4611 | chr14 | TogoVar | ||||||
CEP152_chr15_48732938_48816069 | 48765636 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0288 | 1 | 342 | 0.0029 | 13 | c.228 others(32): Show |
CEP152 | ENSG00000103995.14 | transcript | ENST00000380950.7 | protein_coding | 17/26 | chr15 | TogoVar | ||||||
CEP162_chr6_84119250_84232643 | 84159548 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0165 | 1 | 214 | 0.0047 | 13 | c.278 others(32): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 21/26 | chr6 | TogoVar | ||||||
CEP164_chr11_117322854_117418266 | 117337510 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0005 | a0005c0006 | a0005c0006t0007 | a0005c0006t0007g0048 | 1 | 390 | 0.0026 | 13 | c.-21 others(30): Show |
CEP164 | ENSG00000110274.16 | transcript | ENST00000278935.8 | protein_coding | 2/32 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP170_chr1_243119428_243260281 | 243159763 | T | TGTGTGTG others(6): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0255 | 1 | 303 | 0.0033 | 13 | c.367 others(32): Show |
CEP170 | ENSG00000143702.16 | transcript | ENST00000366542.6 | protein_coding | 13/19 | chr1 | TogoVar | ||||||
CEP20_chr16_15860719_15893603 | 15890556 | C | CAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG01081.hp2 HG02647.hp2 HG03130.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0002c0002t0004 | a0001c0001t0001g0047a0001c0001t0001g0048a0001c0001t0005g0061others(2): Show | 5 | 433 | 0.0116 | 13 | c.-19 others(24): Show |
CEP20 | ENSG00000133393.13 | transcript | ENST00000255759.11 | protein_coding | 1954 | chr16 | TogoVar | ||||||
CEP250_chr20_35450598_35524280 | 35451050 | A | ATATATAT others(6): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 HG01081.hp2 HG01167.hp1 others(14): Show |
a0001a0009a0020 | a0001c0001a0009c0030a0020c0031 | a0001c0001t0001a0001c0001t0014a0001c0001t0019others(6): Show | a0001c0001t0001g0010a0001c0001t0001g0149a0001c0001t0001g0150others(13): Show | 17 | 260 | 0.0654 | 13 | c.-49 others(24): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 4547 | chr20 | TogoVar | ||||||
CEP350_chr1_179949810_180119875 | 180090556 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 248 | 0.0040 | 13 | c.642 others(30): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP350_chr1_179949810_180119875 | 180090557 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01109.hp1 HG01891.hp2 others(12): Show |
a0001a0020 | a0001c0001a0001c0033a0020c0019 | a0001c0001t0001a0001c0033t0001a0020c0019t0001 | a0001c0001t0001g0145a0001c0001t0001g0147a0001c0001t0001g0151others(12): Show | 15 | 248 | 0.0605 | 13 | c.642 others(30): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP41_chr7_130388771_130446016 | 130392392 | A | ACACACAC others(6): Show |
downstream_gene_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0305 | 1 | 346 | 0.0029 | 13 | c.*64 others(24): Show |
CEP41 | ENSG00000106477.20 | transcript | ENST00000223208.10 | protein_coding | 1378 | chr7 | TogoVar | ||||||
CEP41_chr7_130388771_130446016 | 130410026 | C | CTTCTTTT others(6): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01934.hp1 HG02165.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0007a0001c0001t0013g0028a0001c0001t0013g0029others(2): Show | 6 | 346 | 0.0173 | 13 | c.277 others(30): Show |
CEP41 | ENSG00000106477.20 | transcript | ENST00000223208.10 | protein_coding | 5/10 | chr7 | TogoVar | ||||||
CEP57L1_chr6_109090507_109179418 | 109116120 | A | ATTTTATT others(6): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0003 | a0003c0005 | a0003c0005t0035 | a0003c0005t0035g0215 | 1 | 228 | 0.0044 | 13 | c.-4+ others(30): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP57L1_chr6_109090507_109179418 | 109177637 | A | ATATATAT others(6): Show |
downstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0088 | a0001c0001t0088g0160 | 1 | 228 | 0.0044 | 13 | c.*14 others(26): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 3220 | chr6 | TogoVar | ||||||
CEP63_chr3_134481057_134570031 | 134547614 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02572.hp1 HG02717.hp1 others(2): Show |
a0001a0005 | a0001c0001a0005c0013 | a0001c0001t0007a0001c0001t0024a0005c0013t0007 | a0001c0001t0007g0113a0001c0001t0007g0115a0001c0001t0007g0116others(2): Show | 5 | 322 | 0.0155 | 13 | c.106 others(30): Show |
CEP63 | ENSG00000182923.20 | transcript | ENST00000675561.1 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CEP63_chr3_134481057_134570031 | 134557376 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03453.hp1 HG03516.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0207a0001c0003t0001g0152 | 2 | 322 | 0.0062 | 13 | c.146 others(30): Show |
CEP63 | ENSG00000182923.20 | transcript | ENST00000675561.1 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CEP68_chr2_65051416_65092004 | 65089702 | A | ATTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00544.hp1 others(34): Show |
a0001a0002a0011others(1): Show | a0001c0030a0002c0002a0002c0010others(2): Show | a0001c0030t0036a0002c0002t0002a0002c0002t0026others(3): Show | a0001c0030t0036g0062a0002c0002t0002g0001a0002c0002t0002g0003others(22): Show | 37 | 360 | 0.1028 | 13 | c.*60 others(24): Show |
CEP68 | ENSG00000011523.15 | transcript | ENST00000377990.7 | protein_coding | 2699 | chr2 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 610920 | G | GCTCCTGC others(6): Show |
upstream_gene_variant | MODIFIER | NA18971.hp1 NA19065.hp1 |
a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0002 | 2 | 91 | 0.0220 | 13 | c.-14 others(24): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 1419 | chr5 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 649066 | G | GGACTGTG others(6): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 HG02451.hp2 others(3): Show |
a0003 | a0003c0003a0003c0005 | a0003c0003t0002a0003c0005t0002 | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0023others(3): Show | 6 | 91 | 0.0659 | 13 | c.177 others(32): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CEP72_chr5_607340_658553 | 649343 | G | GGACTGTG others(6): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 91 | 0.0110 | 13 | c.177 others(32): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CEP72_chr5_607340_658553 | 649491 | G | GGACTGTG others(6): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 91 | 0.0110 | 13 | c.177 others(32): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CEP72_chr5_607340_658553 | 649609 | G | GGACTGTG others(6): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(7): Show |
a0002a0005 | a0002c0002a0005c0007 | a0002c0002t0001a0005c0007t0001 | a0002c0002t0001g0073a0002c0002t0001g0074a0002c0002t0001g0075others(7): Show | 10 | 91 | 0.1099 | 13 | c.177 others(32): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CEP72_chr5_607340_658553 | 649731 | G | GGACTGTG others(6): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01243.hp1 HG02683.hp1 others(6): Show |
a0002a0005 | a0002c0002a0005c0007 | a0002c0002t0001a0005c0007t0001 | a0002c0002t0001g0071a0002c0002t0001g0073a0002c0002t0001g0075others(6): Show | 9 | 91 | 0.0989 | 13 | c.177 others(32): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CEP72_chr5_607340_658553 | 649745 | G | GGACTGTG others(6): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01070.hp1 HG01192.hp1 others(17): Show |
a0001a0004 | a0001c0001a0001c0006a0004c0004 | a0001c0001t0001a0001c0006t0001a0004c0004t0003 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(15): Show | 20 | 91 | 0.2198 | 13 | c.177 others(32): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CEP72_chr5_607340_658553 | 650202 | G | GGACTGTG others(6): Show |
intron_variant | MODIFIER | HG01243.hp1 HG04115.hp2 NA20752.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0075a0002c0002t0001g0081a0002c0002t0001g0082others(1): Show | 4 | 91 | 0.0440 | 13 | c.177 others(32): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CEP72_chr5_607340_658553 | 650869 | G | GGACTGTG others(6): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 91 | 0.0110 | 13 | c.177 others(32): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CEP72_chr5_607340_658553 | 651006 | G | GGACTGTG others(6): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 91 | 0.0110 | 13 | c.177 others(32): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CEP76_chr18_12667625_12707723 | 12683186 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00609.hp2 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0053a0001c0001t0001g0054a0001c0001t0003g0003others(20): Show | 33 | 380 | 0.0868 | 13 | c.112 others(32): Show |
CEP76 | ENSG00000101624.11 | transcript | ENST00000262127.7 | protein_coding | 8/11 | chr18 | TogoVar | ||||||
CEP76_chr18_12667625_12707723 | 12693852 | A | ATGTATAT others(6): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 380 | 0.0026 | 13 | c.804 others(30): Show |
CEP76 | ENSG00000101624.11 | transcript | ENST00000262127.7 | protein_coding | 6/11 | chr18 | TogoVar |