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 | 111886719 | CATATATA others(3): Show |
C | downstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 392 | 0.0026 | -10 | c.*28 others(21): Show |
CFAP68 | ENSG00000137720.8 | transcript | ENST00000260276.8 | protein_coding | 745 | chr11 | TogoVar | |||||||
CFAP69_chr7_90240174_90316063 | 90250187 | GGAGAGAG others(3): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG01069.hp1 HG01106.hp1 others(36): Show |
a0001a0002 | a0001c0006a0002c0001 | a0001c0006t0001a0002c0001t0001 | a0001c0006t0001g0240 a0002c0001t0001g0006 a0002c0001t0001g0064 others(35): Show |
39 | 338 | 0.1154 | -10 | c.120 others(27): Show |
CFAP69 | ENSG00000105792.19 | transcript | ENST00000389297.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CFAP69_chr7_90240174_90316063 | 90252110 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0307 | 1 | 338 | 0.0030 | -10 | c.121 others(27): Show |
CFAP69 | ENSG00000105792.19 | transcript | ENST00000389297.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CFAP69_chr7_90240174_90316063 | 90264104 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG02004.hp1 HG03654.hp1 |
a0001a0005a0009 | a0001c0002a0005c0009a0009c0018 | a0001c0002t0002a0005c0009t0002a0009c0018t0002 | a0001c0002t0002g0174 a0005c0009t0002g0286 a0009c0018t0002g0175 |
3 | 338 | 0.0089 | -10 | c.357 others(27): Show |
CFAP69 | ENSG00000105792.19 | transcript | ENST00000389297.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CFAP69_chr7_90240174_90316063 | 90275590 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0190 | 1 | 338 | 0.0030 | -10 | c.985 others(27): Show |
CFAP69 | ENSG00000105792.19 | transcript | ENST00000389297.8 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CFAP69_chr7_90240174_90316063 | 90290743 | GTCTTTTC others(3): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00673.hp2 others(62): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0004a0001c0013others(6): Show | a0001c0002t0002a0001c0004t0002a0001c0013t0002others(6): Show | a0001c0002t0002g0009 a0001c0002t0002g0020 a0001c0002t0002g0021 others(56): Show |
65 | 338 | 0.1923 | -10 | c.177 others(29): Show |
CFAP69 | ENSG00000105792.19 | transcript | ENST00000389297.8 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CFAP69_chr7_90240174_90316063 | 90300645 | TTTTTTTT others(3): Show |
T | intron_variant | MODIFIER | HG03225.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0041 | 1 | 338 | 0.0030 | -10 | c.205 others(27): Show |
CFAP69 | ENSG00000105792.19 | transcript | ENST00000389297.8 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CFAP70_chr10_73248762_73363864 | 73282099 | GAGGCTGG others(3): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp2 others(70): Show |
a0002a0003a0009 | a0002c0002a0003c0003a0009c0014 | a0002c0002t0001a0003c0003t0002a0009c0014t0001 | a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 others(70): Show |
73 | 220 | 0.3318 | -10 | c.245 others(29): Show |
CFAP70 | ENSG00000156042.19 | transcript | ENST00000355577.9 | protein_coding | 20/27 | chr10 | TogoVar | |||||||
CFAP70_chr10_73248762_73363864 | 73284739 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG01261.hp2 HG02257.hp1 others(9): Show |
a0001a0010a0012 | a0001c0001a0010c0009a0012c0008 | a0001c0001t0001a0010c0009t0001a0012c0008t0001 | a0001c0001t0001g0120 a0001c0001t0001g0151 a0001c0001t0001g0156 others(9): Show |
12 | 220 | 0.0546 | -10 | c.245 others(29): Show |
CFAP70 | ENSG00000156042.19 | transcript | ENST00000355577.9 | protein_coding | 20/27 | chr10 | TogoVar | |||||||
CFAP70_chr10_73248762_73363864 | 73316477 | TATAGATA others(3): Show |
T | intron_variant | MODIFIER | HG02559.hp1 HG02818.hp1 NA18522.hp1 |
a0003a0008 | a0003c0003a0008c0007 | a0003c0003t0002a0008c0007t0002 | a0003c0003t0002g0010 a0003c0003t0002g0011 a0008c0007t0002g0015 |
3 | 220 | 0.0136 | -10 | c.112 others(29): Show |
CFAP70 | ENSG00000156042.19 | transcript | ENST00000355577.9 | protein_coding | 10/27 | chr10 | TogoVar | |||||||
CFAP70_chr10_73248762_73363864 | 73351067 | GTGTGTAT others(3): Show |
G | intron_variant | MODIFIER | HG02559.hp2 HG02976.hp2 NA18947.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 others(6): Show |
9 | 220 | 0.0409 | -10 | c.250 others(27): Show |
CFAP70 | ENSG00000156042.19 | transcript | ENST00000355577.9 | protein_coding | 3/27 | chr10 | TogoVar | |||||||
CFAP70_chr10_73248762_73363864 | 73351069 | GTGTATAT others(3): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG02258.hp2 HG02615.hp1 others(6): Show |
a0001a0007a0010others(1): Show | a0001c0001a0007c0010a0010c0009others(1): Show | a0001c0001t0001a0007c0010t0001a0010c0009t0001others(1): Show | a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 others(6): Show |
9 | 220 | 0.0409 | -10 | c.250 others(27): Show |
CFAP70 | ENSG00000156042.19 | transcript | ENST00000355577.9 | protein_coding | 3/27 | chr10 | TogoVar | |||||||
CFAP70_chr10_73248762_73363864 | 73351071 | GTATATAT others(3): Show |
G | intron_variant | MODIFIER | HG03209.hp2 HG03579.hp1 NA18978.hp2 |
a0001a0002a0011 | a0001c0001a0002c0002a0011c0011 | a0001c0001t0001a0002c0002t0001a0011c0011t0001 | a0001c0001t0001g0101 a0002c0002t0001g0026 a0011c0011t0001g0102 |
3 | 220 | 0.0136 | -10 | c.250 others(27): Show |
CFAP70 | ENSG00000156042.19 | transcript | ENST00000355577.9 | protein_coding | 3/27 | chr10 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1971059 | TCACACAC others(3): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp1 HG02280.hp1 others(4): Show |
a0003a0010a0013others(1): Show | a0003c0004a0003c0074a0010c0053others(2): Show | a0003c0004t0002a0003c0074t0002a0010c0053t0001others(2): Show | a0003c0004t0002g0031 a0003c0004t0002g0032 a0003c0004t0002g0070 others(4): Show |
7 | 278 | 0.0252 | -10 | c.889 others(25): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 9/38 | chr1 | TogoVar | |||||||
CFAP77_chr9_132405211_132578319 | 132414499 | TCACACAC others(3): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG03139.hp2 |
a0001a0005 | a0001c0002a0005c0009 | a0001c0002t0001a0005c0009t0002 | a0001c0002t0001g0002 a0005c0009t0002g0001 |
2 | 322 | 0.0062 | -10 | c.195 others(27): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP77_chr9_132405211_132578319 | 132421017 | TTTTTTTT others(3): Show |
T | intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 322 | 0.0031 | -10 | c.195 others(29): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
CFAP77_chr9_132405211_132578319 | 132423525 | GAAGCCGA others(3): Show |
G | intron_variant | MODIFIER | HG02056.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0286 | 1 | 322 | 0.0031 | -10 | c.195 others(29): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
CFAP77_chr9_132405211_132578319 | 132459744 | GTGTGTGT others(3): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG01891.hp1 HG02109.hp1 others(10): Show |
a0001a0005a0007 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0009others(5): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0210 others(10): Show |
13 | 322 | 0.0404 | -10 | c.196 others(29): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP77_chr9_132405211_132578319 | 132485985 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | NA18991.hp1 NA18991.hp2 NA19083.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0241 a0001c0001t0001g0304 a0001c0001t0006g0296 |
3 | 322 | 0.0093 | -10 | c.196 others(29): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP77_chr9_132405211_132578319 | 132486032 | ATATATAT others(3): Show |
A | intron_variant | MODIFIER | HG02148.hp1 HG02630.hp2 HG03831.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0074 a0001c0001t0001g0162 a0001c0001t0001g0245 others(2): Show |
5 | 322 | 0.0155 | -10 | c.196 others(29): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP77_chr9_132405211_132578319 | 132561604 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG01346.hp2 HG01978.hp1 HG02004.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0049 a0001c0001t0001g0119 a0001c0001t0001g0142 others(8): Show |
11 | 322 | 0.0342 | -10 | c.733 others(29): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP77_chr9_132405211_132578319 | 132561653 | ACACACAC others(3): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG01256.hp1 HG01975.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0010 a0001c0001t0001g0096 a0001c0001t0001g0263 others(3): Show |
6 | 322 | 0.0186 | -10 | c.733 others(29): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP77_chr9_132405211_132578319 | 132569728 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 322 | 0.0031 | -10 | c.733 others(27): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP90_chr5_7825378_7856133 | 7835097 | AGTATATT others(3): Show |
A | intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0122 | 1 | 420 | 0.0024 | -10 | c.264 others(25): Show |
CFAP90 | ENSG00000215217.7 | transcript | ENST00000399810.7 | protein_coding | 2/2 | chr5 | TogoVar | |||||||
CFAP91_chr3_119698022_119772102 | 119730601 | AGTGTGTG others(3): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG03453.hp2 NA18948.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0027 | a0001c0001t0001a0003c0027t0031 | a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 others(3): Show |
6 | 386 | 0.0155 | -10 | c.101 others(27): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CFAP91_chr3_119698022_119772102 | 119738332 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG02280.hp1 others(3): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0030a0001c0009t0005 | a0001c0001t0001g0021 a0001c0001t0030g0235 a0001c0009t0005g0008 others(1): Show |
6 | 386 | 0.0155 | -10 | c.146 others(27): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CFAP92_chr3_128904873_128999076 | 128953610 | TCTCCCTC others(3): Show |
T | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0210 a0001c0009t0001g0213 |
2 | 342 | 0.0059 | -10 | c.135 others(29): Show |
CFAP92 | ENSG00000114656.13 | transcript | ENST00000645291.3 | protein_coding | 9/15 | chr3 | TogoVar | |||||||
CFAP92_chr3_128904873_128999076 | 128956224 | AAAAAGAA others(3): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG01257.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(1): Show |
4 | 342 | 0.0117 | -10 | c.135 others(29): Show |
CFAP92 | ENSG00000114656.13 | transcript | ENST00000645291.3 | protein_coding | 9/15 | chr3 | TogoVar | |||||||
CFAP95_chr9_69815817_69911227 | 69818351 | AAAAACAA others(3): Show |
A | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01517.hp2 HG02922.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0307 a0001c0002t0001g0005 a0001c0002t0001g0281 |
3 | 380 | 0.0079 | -10 | c.-25 others(21): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 2465 | chr9 | TogoVar | |||||||
CFAP95_chr9_69815817_69911227 | 69841164 | TTATATAT others(3): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG02683.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0170 others(1): Show |
4 | 380 | 0.0105 | -10 | c.153 others(27): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP95_chr9_69815817_69911227 | 69843504 | CCCCTCCT others(3): Show |
C | intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 380 | 0.0026 | -10 | c.153 others(27): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP95_chr9_69815817_69911227 | 69843507 | CTCCTCCT others(3): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG03669.hp1 HG03831.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0006 a0001c0001t0001g0183 a0001c0001t0001g0186 others(5): Show |
8 | 380 | 0.0211 | -10 | c.153 others(27): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
CFAP97D2_chr13_114174257_114228085 | 114218294 | AAATACCT others(3): Show |
A | intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0038 | 1 | 400 | 0.0025 | -10 | c.291 others(27): Show |
CFAP97D2 | ENSG00000283361.3 | transcript | ENST00000636692.2 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CFAP97_chr4_185154665_185209000 | 185170983 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG02145.hp1 HG02965.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0021a0001c0004t0010others(1): Show | a0001c0001t0002g0066 a0001c0001t0002g0118 a0001c0001t0021g0140 others(4): Show |
7 | 350 | 0.0200 | -10 | c.132 others(29): Show |
CFAP97 | ENSG00000164323.15 | transcript | ENST00000458385.7 | protein_coding | 3/4 | chr4 | TogoVar | |||||||
CFAP99_chr4_2413955_2468002 | 2451733 | AGGCTGTG others(3): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(239): Show |
a0001a0002a0005others(4): Show | a0001c0002a0001c0003a0001c0004others(20): Show | a0001c0002t0001a0001c0002t0003a0001c0003t0001others(25): Show | a0001c0002t0001g0018 a0001c0002t0001g0022 a0001c0002t0001g0033 others(220): Show |
242 | 350 | 0.6914 | -10 | c.956 others(25): Show |
CFAP99 | ENSG00000206113.12 | transcript | ENST00000635017.2 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFC1_chr2_130587165_130604575 | 130588077 | ATTATTAT others(3): Show |
A | downstream_gene_variant | MODIFIER | HG01175.hp1 HG01243.hp1 NA20129.hp1 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0008 a0003c0003t0002g0019 |
3 | 242 | 0.0124 | -10 | c.*47 others(21): Show |
CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 4087 | chr2 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75301536 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01433.hp1 HG02109.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 others(5): Show |
8 | 314 | 0.0255 | -10 | c.809 others(27): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 6/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75327460 | GGACAGAA others(3): Show |
G | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01109.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 others(20): Show |
23 | 314 | 0.0733 | -10 | c.651 others(29): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75346582 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG01109.hp2 others(34): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0129 a0001c0001t0001g0140 a0001c0001t0001g0149 others(34): Show |
37 | 314 | 0.1178 | -10 | c.651 others(29): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75384852 | CTATATAT others(3): Show |
C | intron_variant | MODIFIER | HG02717.hp1 HG02717.hp2 HG02896.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0002t0001g0116 |
3 | 314 | 0.0096 | -10 | c.650 others(29): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75393737 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(32): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0006 | a0001c0001t0001a0001c0002t0001a0003c0006t0001 | a0001c0001t0001g0151 a0001c0001t0001g0189 a0001c0001t0001g0190 others(32): Show |
35 | 314 | 0.1115 | -10 | c.650 others(27): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFD_chr19_854664_868641 | 856724 | CAAAAAAA others(3): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp1 others(121): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(54): Show |
124 | 287 | 0.4321 | -10 | c.-29 others(21): Show |
CFD | ENSG00000197766.9 | transcript | ENST00000327726.11 | protein_coding | 2939 | chr19 | TogoVar | |||||||
CFHR1_chr1_196814731_196837189 | 196823093 | ATATATAT others(3): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp1 HG00621.hp2 others(15): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0007 a0001c0002t0002g0015 a0001c0002t0002g0036 others(5): Show |
18 | 275 | 0.0655 | -10 | c.59- others(25): Show |
CFHR1 | ENSG00000244414.8 | transcript | ENST00000320493.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFHR2_chr1_196938738_196964622 | 196950462 | GTTTGTTT others(3): Show |
G | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 370 | 0.0027 | -10 | c.254 others(25): Show |
CFHR2 | ENSG00000080910.14 | transcript | ENST00000367415.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFHR3_chr1_196769840_196800407 | 196772655 | CTCTCTAT others(3): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0003 | 1 | 261 | 0.0038 | -10 | c.-22 others(21): Show |
CFHR3 | ENSG00000116785.15 | transcript | ENST00000367425.9 | protein_coding | 2184 | chr1 | TogoVar | |||||||
CFHR3_chr1_196769840_196800407 | 196773683 | TATATATA others(3): Show |
T | upstream_gene_variant | MODIFIER | HG02027.hp1 HG02074.hp1 HG02083.hp1 others(5): Show |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0003 a0002c0001t0002g0004 a0002c0001t0002g0007 others(4): Show |
8 | 261 | 0.0307 | -10 | c.-12 others(21): Show |
CFHR3 | ENSG00000116785.15 | transcript | ENST00000367425.9 | protein_coding | 1156 | chr1 | TogoVar | |||||||
CFHR5_chr1_196972556_197014678 | 196980591 | CGTGTGTG others(3): Show |
C | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0128 | 1 | 356 | 0.0028 | -10 | c.59- others(25): Show |
CFHR5 | ENSG00000134389.11 | transcript | ENST00000256785.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFHR5_chr1_196972556_197014678 | 196999683 | GTATATAT others(3): Show |
G | intron_variant | MODIFIER | HG00741.hp2 HG01175.hp2 HG01891.hp2 others(6): Show |
a0001a0004 | a0001c0001a0001c0010a0004c0009 | a0001c0001t0001a0001c0010t0003a0004c0009t0001 | a0001c0001t0001g0015 a0001c0001t0001g0066 a0001c0001t0001g0076 others(4): Show |
9 | 356 | 0.0253 | -10 | c.114 others(29): Show |
CFHR5 | ENSG00000134389.11 | transcript | ENST00000256785.5 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFHR5_chr1_196972556_197014678 | 196999722 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp2 HG01934.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0021 a0001c0001t0001g0142 others(13): Show |
21 | 356 | 0.0590 | -10 | c.114 others(29): Show |
CFHR5 | ENSG00000134389.11 | transcript | ENST00000256785.5 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFHR5_chr1_196972556_197014678 | 197010196 | GGTTTAAA others(3): Show |
G | downstream_gene_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 356 | 0.0028 | -10 | c.*15 others(21): Show |
CFHR5 | ENSG00000134389.11 | transcript | ENST00000256785.5 | protein_coding | 519 | chr1 | TogoVar |