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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFAP68_chr11_111874541_111890975 | 111888050 | T | TGGAGAAA others(9): Show |
downstream_gene_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0002 | 1 | 392 | 0.0026 | 16 | c.*41 others(27): Show |
CFAP68 | ENSG00000137720.8 | transcript | ENST00000260276.8 | protein_coding | 2076 | chr11 | TogoVar | |||||||
CFAP69_chr7_90240174_90316063 | 90250187 | G | GGAGAGAG others(9): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01192.hp1 HG01433.hp1 others(3): Show |
a0001a0004 | a0001c0002a0004c0007 | a0001c0002t0002a0004c0007t0001 | a0001c0002t0002g0021 a0001c0002t0002g0139 a0001c0002t0002g0140 others(3): Show |
6 | 338 | 0.0178 | 16 | c.120 others(33): Show |
CFAP69 | ENSG00000105792.19 | transcript | ENST00000389297.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CFAP70_chr10_73248762_73363864 | 73290044 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG03579.hp1 NA19009.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0026 a0002c0002t0001g0035 |
2 | 220 | 0.0091 | 16 | c.244 others(35): Show |
CFAP70 | ENSG00000156042.19 | transcript | ENST00000355577.9 | protein_coding | 20/27 | chr10 | TogoVar | |||||||
CFAP70_chr10_73248762_73363864 | 73309658 | A | ATTTTTTT others(9): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0084 | 1 | 220 | 0.0046 | 16 | c.146 others(33): Show |
CFAP70 | ENSG00000156042.19 | transcript | ENST00000355577.9 | protein_coding | 13/27 | chr10 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1952590 | A | AAAAGAAA others(9): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0011 | a0011c0065 | a0011c0065t0002 | a0011c0065t0002g0198 | 1 | 278 | 0.0036 | 16 | c.217 others(35): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 18/38 | chr1 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1980850 | C | CTCAGAAA others(9): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03540.hp2 |
a0003a0046 | a0003c0012a0046c0099 | a0003c0012t0002a0046c0099t0002 | a0003c0012t0002g0113 a0046c0099t0002g0114 |
2 | 278 | 0.0072 | 16 | c.500 others(33): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 6/38 | chr1 | TogoVar | |||||||
CFAP77_chr9_132405211_132578319 | 132485985 | C | CATATATA others(9): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0075 | 1 | 322 | 0.0031 | 16 | c.196 others(35): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP77_chr9_132405211_132578319 | 132486016 | A | ATATATAT others(9): Show |
intron_variant | MODIFIER | HG01358.hp1 HG03017.hp2 |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0002a0004c0006t0001 | a0001c0001t0002g0105 a0004c0006t0001g0065 |
2 | 322 | 0.0062 | 16 | c.196 others(35): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP77_chr9_132405211_132578319 | 132486018 | A | ATATATAT others(9): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01167.hp1 HG01169.hp1 |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0004c0006t0001 | a0001c0001t0001g0254 a0001c0001t0001g0255 a0004c0006t0001g0052 |
3 | 322 | 0.0093 | 16 | c.196 others(35): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP77_chr9_132405211_132578319 | 132486020 | A | ATATATAT others(9): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 322 | 0.0031 | 16 | c.196 others(35): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP77_chr9_132405211_132578319 | 132559346 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02559.hp1 HG02572.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0168 a0001c0001t0001g0222 a0001c0001t0001g0245 others(5): Show |
8 | 322 | 0.0248 | 16 | c.733 others(35): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP90_chr5_7825378_7856133 | 7850785 | T | TGCCCAGC others(9): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0164 | 1 | 420 | 0.0024 | 16 | c.147 others(29): Show |
CFAP90 | ENSG00000215217.7 | transcript | ENST00000399810.7 | protein_coding | 1/2 | chr5 | TogoVar | |||||||
CFAP91_chr3_119698022_119772102 | 119707732 | G | GATATATA others(9): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01081.hp1 HG01123.hp2 others(16): Show |
a0001a0006 | a0001c0002a0001c0007a0006c0010 | a0001c0002t0002a0001c0002t0013a0001c0007t0008others(2): Show | a0001c0002t0002g0001 a0001c0002t0002g0038 a0001c0002t0002g0039 others(13): Show |
19 | 386 | 0.0492 | 16 | c.359 others(31): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CFAP91_chr3_119698022_119772102 | 119730601 | A | AGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG02135.hp2 HG03654.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 a0001c0001t0001g0222 |
2 | 386 | 0.0052 | 16 | c.101 others(33): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CFAP91_chr3_119698022_119772102 | 119738332 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | NA19000.hp1 NA19070.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 a0001c0001t0001g0198 |
2 | 386 | 0.0052 | 16 | c.146 others(33): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CFAP91_chr3_119698022_119772102 | 119740835 | T | TTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0048 | 1 | 386 | 0.0026 | 16 | c.168 others(33): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CFAP95_chr9_69815817_69911227 | 69820432 | G | GACACACA others(9): Show |
upstream_gene_variant | MODIFIER | HG02523.hp1 HG03471.hp1 HG03704.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0271 a0001c0002t0001g0277 a0001c0002t0001g0289 |
3 | 380 | 0.0079 | 16 | c.-44 others(25): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 384 | chr9 | TogoVar | |||||||
CFAP95_chr9_69815817_69911227 | 69820432 | G | GACACACG others(9): Show |
upstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0137 | 1 | 380 | 0.0026 | 16 | c.-44 others(25): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 384 | chr9 | TogoVar | |||||||
CFAP95_chr9_69815817_69911227 | 69841164 | T | TTATATAT others(9): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01496.hp1 HG01934.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0181 a0001c0001t0001g0221 a0001c0001t0001g0232 others(13): Show |
16 | 380 | 0.0421 | 16 | c.153 others(33): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP95_chr9_69815817_69911227 | 69841164 | T | TTTTATAT others(9): Show |
intron_variant | MODIFIER | HG01943.hp2 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 a0001c0001t0001g0111 |
2 | 380 | 0.0053 | 16 | c.153 others(33): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP95_chr9_69815817_69911227 | 69843505 | C | CCCCCCCT others(9): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0316 | 1 | 380 | 0.0026 | 16 | c.153 others(33): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP95_chr9_69815817_69911227 | 69843514 | T | TCCCCCCC others(9): Show |
intron_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 380 | 0.0026 | 16 | c.153 others(33): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP95_chr9_69815817_69911227 | 69895369 | C | CTCTCTCT others(9): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0092 | 1 | 380 | 0.0026 | 16 | c.507 others(33): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP95_chr9_69815817_69911227 | 69895369 | C | CTCTCTCT others(9): Show |
intron_variant | MODIFIER | HG03942.hp1 HG04184.hp1 NA19090.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 a0001c0001t0001g0182 a0001c0001t0001g0186 others(2): Show |
5 | 380 | 0.0132 | 16 | c.507 others(33): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP95_chr9_69815817_69911227 | 69895369 | C | CTCTCTGT others(9): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01069.hp2 HG01071.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 a0001c0001t0001g0055 a0001c0001t0001g0056 others(10): Show |
13 | 380 | 0.0342 | 16 | c.507 others(33): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP95_chr9_69815817_69911227 | 69895369 | C | CTCTGTGT others(9): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0235 | 1 | 380 | 0.0026 | 16 | c.507 others(33): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP97D2_chr13_114174257_114228085 | 114214582 | T | TTTTGTTT others(9): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG01243.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007a0001c0001t0008 | a0001c0001t0005g0016 a0001c0001t0005g0037 a0001c0001t0005g0085 others(13): Show |
17 | 400 | 0.0425 | 16 | c.291 others(33): Show |
CFAP97D2 | ENSG00000283361.3 | transcript | ENST00000636692.2 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CFAP97_chr4_185154665_185209000 | 185193887 | G | GATAAATA others(9): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00597.hp1 others(105): Show |
a0001a0002a0003others(2): Show | a0001c0003a0002c0002a0002c0013others(4): Show | a0001c0003t0004a0002c0002t0001a0002c0002t0012others(8): Show | a0001c0003t0004g0032 a0001c0003t0004g0033 a0001c0003t0004g0034 others(87): Show |
108 | 350 | 0.3086 | 16 | c.-16 others(33): Show |
CFAP97 | ENSG00000164323.15 | transcript | ENST00000458385.7 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
CFAP97_chr4_185154665_185209000 | 185198789 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG02738.hp1 others(7): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0004a0002c0002t0001 | a0001c0003t0004g0032 a0001c0003t0004g0033 a0001c0003t0004g0034 others(7): Show |
10 | 350 | 0.0286 | 16 | c.-17 others(33): Show |
CFAP97 | ENSG00000164323.15 | transcript | ENST00000458385.7 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
CFAP99_chr4_2413955_2468002 | 2415451 | T | TACACACA others(9): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 HG00609.hp2 HG01069.hp2 others(26): Show |
a0001a0002a0005others(1): Show | a0001c0002a0001c0003a0001c0004others(8): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0003others(11): Show | a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 others(26): Show |
29 | 350 | 0.0829 | 16 | c.-36 others(27): Show |
CFAP99 | ENSG00000206113.12 | transcript | ENST00000635017.2 | protein_coding | 3503 | chr4 | TogoVar | |||||||
CFAP99_chr4_2413955_2468002 | 2440149 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG01074.hp1 others(67): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0003a0001c0004others(11): Show | a0001c0002t0001a0001c0003t0001a0001c0004t0001others(12): Show | a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0014 others(61): Show |
70 | 350 | 0.2000 | 16 | c.351 others(33): Show |
CFAP99 | ENSG00000206113.12 | transcript | ENST00000635017.2 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP99_chr4_2413955_2468002 | 2466647 | T | TTGTGTGT others(9): Show |
downstream_gene_variant | MODIFIER | NA18943.hp2 | a0009 | a0009c0014 | a0009c0014t0001 | a0009c0014t0001g0262 | 1 | 350 | 0.0029 | 16 | c.*37 others(27): Show |
CFAP99 | ENSG00000206113.12 | transcript | ENST00000635017.2 | protein_coding | 3646 | chr4 | TogoVar | |||||||
CFC1B_chr2_130516222_130533603 | 130532664 | A | ATAATAAT others(9): Show |
downstream_gene_variant | MODIFIER | HG03139.hp2 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0004 | 1 | 12 | 0.0833 | 16 | c.*47 others(27): Show |
CFC1B | ENSG00000152093.8 | transcript | ENST00000281882.8 | protein_coding | 4062 | chr2 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75297145 | C | CGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00741.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 a0001c0001t0001g0206 a0001c0001t0001g0208 others(11): Show |
14 | 314 | 0.0446 | 16 | c.810 others(33): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 6/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75297194 | G | GTGTGTGT others(9): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265 | 1 | 314 | 0.0032 | 16 | c.810 others(33): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 6/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75303400 | A | AATGTATG others(9): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(97): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0003c0006t0001 | a0001c0001t0001g0034 a0001c0001t0001g0061 a0001c0001t0001g0123 others(97): Show |
100 | 314 | 0.3185 | 16 | c.809 others(33): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 6/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75349680 | A | AATATATA others(9): Show |
intron_variant | MODIFIER | HG01123.hp2 NA18975.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 a0001c0001t0001g0272 |
2 | 314 | 0.0064 | 16 | c.651 others(35): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75349682 | A | AATATATA others(9): Show |
intron_variant | MODIFIER | NA18941.hp1 NA19006.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0230 |
2 | 314 | 0.0064 | 16 | c.651 others(35): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75349684 | A | AATATATA others(9): Show |
intron_variant | MODIFIER | HG00323.hp1 HG02523.hp1 HG02523.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 a0001c0001t0001g0235 a0001c0001t0001g0279 others(1): Show |
4 | 314 | 0.0127 | 16 | c.651 others(35): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75349686 | A | AATATATA others(9): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01257.hp2 HG02258.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 a0001c0001t0001g0220 a0001c0001t0001g0278 others(1): Show |
4 | 314 | 0.0127 | 16 | c.651 others(35): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75349698 | T | TATATATA others(9): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01123.hp1 HG01168.hp2 others(10): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0005 | a0001c0001t0002a0002c0003t0002a0004c0005t0002 | a0001c0001t0002g0147 a0001c0001t0002g0155 a0001c0001t0002g0156 others(10): Show |
13 | 314 | 0.0414 | 16 | c.651 others(35): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75363942 | A | AACACACA others(9): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02647.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0149 a0001c0001t0002g0152 a0001c0001t0002g0156 others(3): Show |
6 | 314 | 0.0191 | 16 | c.650 others(35): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75384852 | C | CTATATAT others(9): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0035 | 1 | 314 | 0.0032 | 16 | c.650 others(35): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFD_chr19_854664_868641 | 864042 | C | CCACACAC others(9): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 HG02055.hp1 HG02257.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011 | a0001c0001t0001g0049 a0001c0001t0002g0002 a0001c0001t0002g0013 others(2): Show |
5 | 287 | 0.0174 | 16 | c.*80 others(25): Show |
CFD | ENSG00000197766.9 | transcript | ENST00000327726.11 | protein_coding | 402 | chr19 | TogoVar | |||||||
CFD_chr19_854664_868641 | 864060 | A | ACACACAC others(9): Show |
downstream_gene_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 287 | 0.0035 | 16 | c.*82 others(25): Show |
CFD | ENSG00000197766.9 | transcript | ENST00000327726.11 | protein_coding | 420 | chr19 | TogoVar | |||||||
CFD_chr19_854664_868641 | 867292 | C | CGGGGGCC others(9): Show |
downstream_gene_variant | MODIFIER | HG01358.hp2 HG02080.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0001 a0001c0001t0004g0012 |
3 | 287 | 0.0105 | 16 | c.*40 others(27): Show |
CFD | ENSG00000197766.9 | transcript | ENST00000327726.11 | protein_coding | 3652 | chr19 | TogoVar | |||||||
CFHR1_chr1_196814731_196837189 | 196824748 | G | GTATATAT others(9): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01106.hp2 HG01243.hp2 others(7): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0002 | a0001c0002t0002g0009 a0001c0002t0002g0081 a0001c0003t0002g0017 others(1): Show |
10 | 275 | 0.0364 | 16 | c.59- others(29): Show |
CFHR1 | ENSG00000244414.8 | transcript | ENST00000320493.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFHR3_chr1_196769840_196800407 | 196772694 | G | GTATATAT others(9): Show |
upstream_gene_variant | MODIFIER | NA19001.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0009 | 1 | 261 | 0.0038 | 16 | c.-21 others(27): Show |
CFHR3 | ENSG00000116785.15 | transcript | ENST00000367425.9 | protein_coding | 2145 | chr1 | TogoVar | |||||||
CFHR4_chr1_196883052_196923633 | 196885599 | T | TATATATA others(9): Show |
upstream_gene_variant | MODIFIER | HG02896.hp1 NA18940.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 a0002c0002t0001g0027 |
2 | 350 | 0.0057 | 16 | c.-25 others(27): Show |
CFHR4 | ENSG00000134365.15 | transcript | ENST00000608469.6 | protein_coding | 2452 | chr1 | TogoVar | |||||||
CFHR4_chr1_196883052_196923633 | 196885599 | T | TATATATA others(9): Show |
upstream_gene_variant | MODIFIER | NA19009.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 350 | 0.0029 | 16 | c.-25 others(27): Show |
CFHR4 | ENSG00000134365.15 | transcript | ENST00000608469.6 | protein_coding | 2452 | chr1 | TogoVar |