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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEP83_chr12_94302698_94464867 | 94439348 | A | ATAGGTGT others(4): Show |
intron_variant | MODIFIER | HG02056.hp2 NA18962.hp1 NA19072.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0030 a0001c0001t0007g0031 a0001c0001t0007g0032 others(1): Show |
4 | 362 | 0.0110 | 11 | c.-15 others(30): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 1/16 | chr12 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118460150 | C | CAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 HG02451.hp2 HG02630.hp1 others(5): Show |
a0004 | a0004c0004 | a0004c0004t0006 | a0004c0004t0006g0047 a0004c0004t0006g0048 a0004c0004t0006g0049 others(5): Show |
8 | 125 | 0.0640 | 11 | c.*52 others(22): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 621 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118519473 | T | TGTGTGTG others(4): Show |
intron_variant | MODIFIER | NA18981.hp1 NA19012.hp2 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0002a0003c0003t0002 | a0002c0002t0002g0279 a0003c0003t0002g0218 |
2 | 266 | 0.0075 | 11 | c.113 others(30): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 4/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118600294 | C | CTGGGGGG others(4): Show |
intron_variant | MODIFIER | HG02647.hp2 NA20905.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0237 a0002c0002t0002g0278 |
2 | 244 | 0.0082 | 11 | c.232 others(30): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118600300 | G | GTGTGTGT others(4): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01175.hp2 HG02083.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0003 | a0001c0001t0001g0063 a0001c0001t0001g0107 a0001c0001t0001g0149 others(2): Show |
5 | 121 | 0.0413 | 11 | c.232 others(30): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118612676 | C | CGGGGGGG others(4): Show |
intron_variant | MODIFIER | NA18964.hp1 NA19007.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 a0001c0001t0001g0127 |
2 | 14 | 0.1429 | 11 | c.232 others(30): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
CEP85_chr1_26229200_26283808 | 26235567 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00733.hp1 others(6): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0004a0003c0003t0006 | a0001c0001t0001g0298 a0003c0003t0004g0293 a0003c0003t0004g0294 others(6): Show |
9 | 107 | 0.0841 | 11 | c.-23 others(28): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CEP85_chr1_26229200_26283808 | 26241244 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG00738.hp1 others(37): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0006 | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(2): Show | a0001c0001t0001g0010 a0001c0001t0001g0176 a0001c0001t0001g0178 others(36): Show |
40 | 141 | 0.2837 | 11 | c.55+ others(26): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CEP85_chr1_26229200_26283808 | 26248722 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02602.hp1 HG03834.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0122 a0001c0001t0003g0143 |
2 | 99 | 0.0202 | 11 | c.208 others(28): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CEP85_chr1_26229200_26283808 | 26256928 | G | GTGTGTGT others(4): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00597.hp2 HG00642.hp1 others(25): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0169 others(25): Show |
28 | 47 | 0.5957 | 11 | c.904 others(26): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 4/13 | chr1 | TogoVar | |||||||
CEP89_chr19_32870925_32976958 | 32944220 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(74): Show |
a0002a0006a0010others(1): Show | a0002c0001a0006c0008a0010c0024others(1): Show | a0002c0001t0001a0002c0001t0002a0002c0001t0008others(6): Show | a0002c0001t0001g0329 a0002c0001t0001g0353 a0002c0001t0002g0005 others(71): Show |
77 | 246 | 0.3130 | 11 | c.595 others(28): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
CEP95_chr17_64501977_64542946 | 64532125 | C | CGAAGAAA others(4): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 246 | 0.0041 | 11 | c.167 others(28): Show |
CEP95 | ENSG00000258890.8 | transcript | ENST00000556440.7 | protein_coding | 14/19 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CEPT1_chr1_111135223_111190104 | 111149266 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 251 | 0.0040 | 11 | c.339 others(28): Show |
CEPT1 | ENSG00000134255.16 | transcript | ENST00000357172.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CER1_chr9_14714724_14727733 | 14719555 | C | CTCCTTCC others(4): Show |
downstream_gene_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0034 | 1 | 454 | 0.0022 | 11 | c.*53 others(20): Show |
CER1 | ENSG00000147869.5 | transcript | ENST00000380911.4 | protein_coding | 168 | chr9 | TogoVar | |||||||
CERS1_chr19_18863545_18901158 | 18876428 | A | AGCCCGCT others(4): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0216 | 1 | 378 | 0.0026 | 11 | c.101 others(30): Show |
CERS1 | ENSG00000223802.9 | transcript | ENST00000623882.4 | protein_coding | 6/7 | chr19 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100467850 | T | TAGATAGA others(4): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03139.hp2 |
a0002 | a0002c0002 | a0002c0002t0033a0002c0002t0041 | a0002c0002t0033g0309 a0002c0002t0041g0322 |
2 | 147 | 0.0136 | 11 | c.845 others(28): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 10/11 | chr15 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100483781 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02015.hp2 HG02080.hp1 others(16): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0020a0001c0001t0024others(1): Show | a0001c0001t0001g0136 a0001c0001t0001g0152 a0001c0001t0001g0167 others(16): Show |
19 | 215 | 0.0884 | 11 | c.407 others(26): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 5/11 | chr15 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100483784 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02145.hp1 NA18991.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 a0001c0001t0001g0189 |
2 | 155 | 0.0129 | 11 | c.407 others(26): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 5/11 | chr15 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100483787 | A | ATTATTAT others(4): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0002 | a0002c0002t0036 | a0002c0002t0036g0025 | 1 | 3 | 0.3333 | 11 | c.407 others(26): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 5/11 | chr15 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100483787 | A | ATTATTAT others(4): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 3 | 0.3333 | 11 | c.407 others(26): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 5/11 | chr15 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100483787 | A | ATTATTTT others(4): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 | 1 | 3 | 0.3333 | 11 | c.407 others(26): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 5/11 | chr15 | TogoVar | |||||||
CERS4_chr19_8204370_8267421 | 8245111 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 364 | 0.0027 | 11 | c.-1- others(26): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8254322 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00741.hp2 HG01070.hp2 others(11): Show |
a0001a0004a0007 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0002a0001c0002t0002a0001c0006t0006others(5): Show | a0001c0001t0002g0239 a0001c0001t0002g0344 a0001c0002t0002g0248 others(11): Show |
14 | 111 | 0.1261 | 11 | c.174 others(26): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8266862 | C | CAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0248 | 1 | 416 | 0.0024 | 11 | c.*47 others(22): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 4442 | chr19 | TogoVar | |||||||
CERS4_chr19_8204370_8267421 | 8266863 | C | CAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0264 | 1 | 55 | 0.0182 | 11 | c.*47 others(22): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 4443 | chr19 | TogoVar | |||||||
CERS4_chr19_8204370_8267421 | 8267294 | C | CAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG02559.hp1 HG02922.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0002t0003others(2): Show | a0001c0001t0002g0297 a0001c0001t0003g0397 a0001c0002t0003g0007 others(3): Show |
6 | 113 | 0.0531 | 11 | c.*51 others(22): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 4874 | chr19 | TogoVar | |||||||
CERS5_chr12_50124289_50172369 | 50148919 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02717.hp1 HG03491.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0002 | a0001c0001t0006g0201 a0001c0002t0002g0226 a0001c0002t0002g0266 |
3 | 291 | 0.0103 | 11 | c.198 others(28): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | |||||||
CERS5_chr12_50124289_50172369 | 50148921 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0243 | 1 | 267 | 0.0037 | 11 | c.198 others(28): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | |||||||
CERS5_chr12_50124289_50172369 | 50148923 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0254 | 1 | 225 | 0.0044 | 11 | c.198 others(28): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | |||||||
CERS6_chr2_168451272_168780134 | 168464172 | T | TGTGTGTG others(4): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 160 | 0.0063 | 11 | c.170 others(28): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 1/9 | chr2 | TogoVar | |||||||
CERS6_chr2_168451272_168780134 | 168520598 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02922.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0010 | a0001c0001t0006g0032 a0001c0001t0010g0033 |
2 | 18 | 0.1111 | 11 | c.171 others(30): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168535937 | T | TGTTCTTT others(4): Show |
intron_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 174 | 0.0057 | 11 | c.171 others(30): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168645110 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0064 | 1 | 169 | 0.0059 | 11 | c.465 others(30): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 4/9 | chr2 | TogoVar | |||||||
CERS6_chr2_168451272_168780134 | 168645114 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0015 | 1 | 139 | 0.0072 | 11 | c.465 others(30): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 4/9 | chr2 | TogoVar | |||||||
CERS6_chr2_168451272_168780134 | 168645116 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 100 | 0.0100 | 11 | c.465 others(30): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 4/9 | chr2 | TogoVar | |||||||
CERS6_chr2_168451272_168780134 | 168760766 | A | ATTTATTT others(4): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0084 | 1 | 161 | 0.0062 | 11 | c.846 others(28): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CERT1_chr5_75372775_75516629 | 75457970 | T | TGTGTGTG others(4): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02622.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0006a0001c0006t0006 | a0001c0001t0006g0231 a0001c0006t0006g0266 |
2 | 326 | 0.0061 | 11 | c.348 others(28): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 3/16 | chr5 | TogoVar | |||||||
CES1_chr16_55797851_55838096 | 55809093 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01361.hp2 HG01433.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0002c0002t0002 | a0001c0001t0001g0015 a0001c0001t0001g0031 a0001c0001t0001g0035 others(7): Show |
10 | 30 | 0.3333 | 11 | c.131 others(30): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 11/13 | chr16 | TogoVar | |||||||
CETP_chr16_56956950_56988845 | 56959938 | G | GAAAGAAA others(4): Show |
upstream_gene_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 145 | 0.0069 | 11 | c.-20 others(22): Show |
CETP | ENSG00000087237.12 | transcript | ENST00000200676.8 | protein_coding | 2011 | chr16 | TogoVar | |||||||
CETP_chr16_56956950_56988845 | 56960004 | A | AAAGAAAG others(4): Show |
upstream_gene_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 459 | 0.0022 | 11 | c.-19 others(22): Show |
CETP | ENSG00000087237.12 | transcript | ENST00000200676.8 | protein_coding | 1945 | chr16 | TogoVar | |||||||
CFAP20DC_chr3_58737008_59055025 | 58742192 | T | TTTGTTTA others(4): Show |
3_prime_UTR_variant | MODIFIER | HG00673.hp1 NA19085.hp1 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0011 a0001c0002t0004g0041 |
2 | 201 | 0.0100 | 11 | c.*26 others(20): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 17/17 | 267 | chr3 | TogoVar | ||||||
CFAP20DC_chr3_58737008_59055025 | 58963241 | T | TGTGTGTG others(4): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 200 | 0.0050 | 11 | c.279 others(30): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 4/16 | chr3 | TogoVar | |||||||
CFAP210_chr2_169640425_169699405 | 169653029 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0287 a0001c0001t0004g0286 |
2 | 204 | 0.0098 | 11 | c.959 others(28): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
CFAP221_chr2_119539449_119661661 | 119628292 | G | GTGTGTGT others(4): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 199 | 0.0050 | 11 | c.165 others(28): Show |
CFAP221 | ENSG00000163075.13 | transcript | ENST00000413369.8 | protein_coding | 16/23 | chr2 | TogoVar | |||||||
CFAP221_chr2_119539449_119661661 | 119628294 | G | GTGTGTGT others(4): Show |
intron_variant | MODIFIER | HG03704.hp1 NA18957.hp2 NA19090.hp2 |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0002 | a0003c0003t0001g0066 a0003c0003t0001g0072 a0003c0003t0002g0067 |
3 | 30 | 0.1000 | 11 | c.165 others(28): Show |
CFAP221 | ENSG00000163075.13 | transcript | ENST00000413369.8 | protein_coding | 16/23 | chr2 | TogoVar | |||||||
CFAP251_chr12_121913592_122008919 | 121952240 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 |
a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0035 a0003c0002t0001g0036 |
2 | 26 | 0.0769 | 11 | c.132 others(28): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP251_chr12_121913592_122008919 | 121978393 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG01243.hp1 others(5): Show |
a0001 | a0001c0003a0001c0005a0001c0007others(1): Show | a0001c0003t0001a0001c0005t0001a0001c0007t0001others(1): Show | a0001c0003t0001g0263 a0001c0003t0001g0268 a0001c0005t0001g0276 others(5): Show |
8 | 30 | 0.2667 | 11 | c.300 others(30): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP251_chr12_121913592_122008919 | 121979563 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02080.hp2 HG02615.hp2 others(4): Show |
a0001a0002 | a0001c0004a0001c0008a0002c0001 | a0001c0004t0001a0001c0008t0001a0002c0001t0001 | a0001c0004t0001g0055 a0001c0004t0001g0120 a0001c0004t0001g0130 others(4): Show |
7 | 89 | 0.0787 | 11 | c.300 others(30): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP298_chr21_32594354_32617377 | 32611339 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 345 | 0.0029 | 11 | c.139 others(26): Show |
CFAP298 | ENSG00000159079.19 | transcript | ENST00000290155.8 | protein_coding | 1/6 | chr21 | TogoVar | |||||||
CFAP299_chr4_80330730_80968750 | 80572507 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00639.hp2 HG00738.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(2): Show | a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0069 others(6): Show |
9 | 21 | 0.4286 | 11 | c.243 others(30): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |