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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFAP44_chr3_113281930_113446493 | 113433429 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02145.hp2 NA18953.hp2 NA18991.hp2 |
a0002a0004a0036 | a0002c0002a0004c0004a0036c0035 | a0002c0002t0002a0004c0004t0012a0036c0035t0002 | a0002c0002t0002g0119 a0004c0004t0012g0304 a0036c0035t0002g0118 |
3 | 111 | 0.0270 | 17 | c.100 others(32): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 2/34 | chr3 | TogoVar | |||||||
CFAP45_chr1_159867364_159905165 | 159878753 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0049 a0001c0001t0001g0050 others(13): Show |
23 | 55 | 0.4182 | 17 | c.104 others(36): Show |
CFAP45 | ENSG00000213085.10 | transcript | ENST00000368099.9 | protein_coding | 8/11 | chr1 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132821358 | G | GTGTGTGC others(10): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0052 | a0052c0037 | a0052c0037t0001 | a0052c0037t0001g0230 | 1 | 244 | 0.0041 | 17 | c.711 others(36): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132823714 | C | CGTGTGCT others(10): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0024 | a0024c0017 | a0024c0017t0001 | a0024c0017t0001g0197 | 1 | 241 | 0.0041 | 17 | c.711 others(36): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132824422 | A | AGTGCTGA others(10): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02258.hp2 HG03130.hp2 others(1): Show |
a0008a0009a0023 | a0008c0009a0009c0018a0023c0100 | a0008c0009t0001a0009c0018t0001a0023c0100t0002 | a0008c0009t0001g0122 a0008c0009t0001g0124 a0009c0018t0001g0228 others(1): Show |
4 | 233 | 0.0172 | 17 | c.711 others(36): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132887784 | C | CCTCTCCT others(10): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00544.hp1 others(5): Show |
a0001a0011a0018others(3): Show | a0001c0030a0011c0010a0018c0020others(3): Show | a0001c0030t0002a0011c0010t0001a0018c0020t0001others(3): Show | a0001c0030t0002g0037 a0011c0010t0001g0187 a0011c0010t0001g0193 others(5): Show |
8 | 244 | 0.0328 | 17 | c.330 others(36): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132888001 | C | CTCTCTCC others(10): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0017 | a0017c0095 | a0017c0095t0002 | a0017c0095t0002g0114 | 1 | 244 | 0.0041 | 17 | c.330 others(36): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | |||||||
CFAP52_chr17_9571642_9648447 | 9631044 | G | GAAGAAAG others(10): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0168 | 1 | 249 | 0.0040 | 17 | c.117 others(36): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CFAP52_chr17_9571642_9648447 | 9631052 | G | GAAGAAAG others(10): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0044 | 1 | 78 | 0.0128 | 17 | c.117 others(36): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CFAP52_chr17_9571642_9648447 | 9631052 | G | GAGAGAAG others(10): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0205 | 1 | 78 | 0.0128 | 17 | c.117 others(36): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CFAP52_chr17_9571642_9648447 | 9631052 | G | GAGAGAGA others(10): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0063 | 1 | 78 | 0.0128 | 17 | c.117 others(36): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CFAP53_chr18_50222193_50271495 | 50237329 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01255.hp2 HG03710.hp2 |
a0003a0006 | a0003c0003a0006c0010 | a0003c0003t0001a0006c0010t0001 | a0003c0003t0001g0168 a0006c0010t0001g0179 |
2 | 52 | 0.0385 | 17 | c.131 others(36): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 7/7 | chr18 | TogoVar | |||||||
CFAP53_chr18_50222193_50271495 | 50237329 | A | AAAAAAAT others(10): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG02922.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0146 a0003c0003t0001g0034 a0003c0003t0001g0178 |
4 | 54 | 0.0741 | 17 | c.131 others(36): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 7/7 | chr18 | TogoVar | |||||||
CFAP53_chr18_50222193_50271495 | 50237329 | A | AAAAATAT others(10): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01106.hp1 HG01515.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0228 a0003c0003t0001g0169 a0003c0003t0001g0195 others(1): Show |
4 | 54 | 0.0741 | 17 | c.131 others(36): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 7/7 | chr18 | TogoVar | |||||||
CFAP54_chr12_96484577_96880555 | 96621875 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0005 | a0005c0041 | a0005c0041t0001 | a0005c0041t0001g0027 | 1 | 24 | 0.0417 | 17 | c.377 others(34): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 27/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96654832 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00609.hp2 HG03669.hp1 others(4): Show |
a0002a0004a0007others(1): Show | a0002c0003a0002c0007a0002c0058others(3): Show | a0002c0003t0001a0002c0007t0001a0002c0058t0001others(3): Show | a0002c0003t0001g0139 a0002c0007t0001g0131 a0002c0007t0001g0132 others(4): Show |
7 | 121 | 0.0579 | 17 | c.510 others(36): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 36/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20106050 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0137 | 1 | 233 | 0.0043 | 17 | c.859 others(34): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 8/26 | chr20 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20327777 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0006 | a0006c0011 | a0006c0011t0003 | a0006c0011t0003g0089 | 1 | 51 | 0.0196 | 17 | c.342 others(38): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20356860 | G | GAGAGGAG others(10): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0108 | 1 | 234 | 0.0043 | 17 | c.351 others(36): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | chr20 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20357854 | G | GAGGGGAG others(10): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0002 | a0002c0032 | a0002c0032t0001 | a0002c0032t0001g0185 | 1 | 212 | 0.0047 | 17 | c.351 others(36): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | chr20 | TogoVar | |||||||
CFAP77_chr9_132405211_132578319 | 132438541 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG02155.hp1 NA19068.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0001 | a0001c0001t0002g0085 a0002c0003t0001g0207 |
2 | 218 | 0.0092 | 17 | c.195 others(36): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP77_chr9_132405211_132578319 | 132438541 | A | ATATTTTT others(10): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0308 | 1 | 217 | 0.0046 | 17 | c.195 others(36): 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(10): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02809.hp2 HG02976.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0004t0002a0001c0004t0008others(1): Show | a0001c0001t0001g0173 a0001c0004t0002g0201 a0001c0004t0002g0283 others(2): Show |
5 | 33 | 0.1515 | 17 | c.733 others(36): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP91_chr3_119698022_119772102 | 119738332 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02129.hp1 NA18946.hp1 NA19000.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 a0001c0001t0001g0264 a0001c0001t0001g0284 |
3 | 15 | 0.2000 | 17 | c.146 others(34): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CFAP92_chr3_128904873_128999076 | 128913477 | T | TTACACCA others(10): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00735.hp1 others(46): Show |
a0001a0006a0010others(1): Show | a0001c0001a0006c0017a0010c0008others(1): Show | a0001c0001t0001a0006c0017t0001a0010c0008t0001others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(43): Show |
49 | 340 | 0.1441 | 17 | c.328 others(36): Show |
CFAP92 | ENSG00000114656.13 | transcript | ENST00000645291.3 | protein_coding | 15/15 | chr3 | TogoVar | |||||||
CFAP95_chr9_69815817_69911227 | 69832620 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02922.hp2 HG03669.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0370 |
3 | 10 | 0.3000 | 17 | c.152 others(36): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP95_chr9_69815817_69911227 | 69841164 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 17 | 0.0588 | 17 | c.153 others(34): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
CFAP95_chr9_69815817_69911227 | 69843500 | T | TCCCCCCC others(10): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 331 | 0.0030 | 17 | c.153 others(34): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP97_chr4_185154665_185209000 | 185198789 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | NA18942.hp2 NA18964.hp1 NA18973.hp1 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0037 a0001c0003t0004g0038 a0001c0003t0004g0039 others(3): Show |
6 | 185 | 0.0324 | 17 | c.-17 others(34): Show |
CFAP97 | ENSG00000164323.15 | transcript | ENST00000458385.7 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
CFAP99_chr4_2413955_2468002 | 2440149 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00735.hp2 HG01243.hp2 others(26): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0008others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0008t0001others(3): Show | a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0055 others(23): Show |
29 | 232 | 0.1250 | 17 | c.351 others(34): Show |
CFAP99 | ENSG00000206113.12 | transcript | ENST00000635017.2 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFC1B_chr2_130516222_130533603 | 130532657 | C | CAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 10 | 0.1000 | 17 | c.*47 others(28): Show |
CFC1B | ENSG00000152093.8 | transcript | ENST00000281882.8 | protein_coding | 4055 | chr2 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75297195 | T | TGTGTGTG others(10): Show |
intron_variant | MODIFIER | NA19010.hp1 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0212 a0001c0001t0007g0312 |
2 | 307 | 0.0065 | 17 | c.810 others(34): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 6/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75346582 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0058 | 1 | 5 | 0.2000 | 17 | c.651 others(36): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75349680 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01069.hp2 HG02451.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0146 a0001c0001t0001g0207 a0001c0002t0001g0287 |
3 | 255 | 0.0118 | 17 | c.651 others(36): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75349682 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG03579.hp1 NA18939.hp2 NA18948.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 a0001c0001t0001g0226 a0001c0001t0001g0233 others(2): Show |
5 | 207 | 0.0242 | 17 | c.651 others(36): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75349684 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG03195.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0011 a0001c0001t0001g0199 a0001c0001t0001g0219 others(3): Show |
6 | 126 | 0.0476 | 17 | c.651 others(36): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75349686 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG00099.hp1 HG02698.hp1 NA18942.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0297 |
3 | 57 | 0.0526 | 17 | c.651 others(36): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75349688 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG01243.hp1 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275 a0001c0001t0001g0282 |
2 | 29 | 0.0690 | 17 | c.651 others(36): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75349690 | A | AAATATAT others(10): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 | 1 | 13 | 0.0769 | 17 | c.651 others(36): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFD_chr19_854664_868641 | 867041 | C | CACCCCCG others(10): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(56): Show |
a0001a0003 | a0001c0001a0001c0006a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(32): Show |
59 | 284 | 0.2077 | 17 | c.*38 others(28): Show |
CFD | ENSG00000197766.9 | transcript | ENST00000327726.11 | protein_coding | 3401 | chr19 | TogoVar | |||||||
CFH_chr1_196647043_196752504 | 196658407 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00609.hp2 HG00741.hp2 others(18): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 others(18): Show |
21 | 144 | 0.1458 | 17 | c.58+ others(32): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFH_chr1_196647043_196752504 | 196692762 | C | CTCTTTCC others(10): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0057 | 1 | 292 | 0.0034 | 17 | c.133 others(36): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFH_chr1_196647043_196752504 | 196714701 | A | AGAGAGAG others(10): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0138 | 1 | 137 | 0.0073 | 17 | c.151 others(34): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFI_chr4_109735695_109806999 | 109751646 | G | GGCCAGGC others(10): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0307 | 1 | 352 | 0.0028 | 17 | c.940 others(32): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 8/12 | chr4 | TogoVar | |||||||
CFLAR_chr2_201111164_201181687 | 201114047 | T | TATATATA others(10): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 179 | 0.0056 | 17 | c.-25 others(28): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 2116 | chr2 | TogoVar | |||||||
CGAS_chr6_73418711_73457297 | 73453568 | C | CTTTCTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 | a0002 | a0002c0001 | a0002c0001t0014 | a0002c0001t0014g0156 | 1 | 29 | 0.0345 | 17 | c.-13 others(28): Show |
CGAS | ENSG00000164430.17 | transcript | ENST00000370315.4 | protein_coding | 1272 | chr6 | TogoVar | |||||||
CGAS_chr6_73418711_73457297 | 73453568 | C | CTTTTTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(13): Show |
a0001a0002a0005others(1): Show | a0001c0003a0002c0001a0002c0005others(3): Show | a0001c0003t0001a0002c0001t0001a0002c0001t0005others(7): Show | a0001c0003t0001g0246 a0002c0001t0001g0012 a0002c0001t0001g0027 others(12): Show |
16 | 44 | 0.3636 | 17 | c.-13 others(28): Show |
CGAS | ENSG00000164430.17 | transcript | ENST00000370315.4 | protein_coding | 1272 | chr6 | TogoVar | |||||||
CGB7_chr19_49049274_49062749 | 49060036 | C | CAAAAAAA others(10): Show |
upstream_gene_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 74 | 0.0135 | 17 | c.-39 others(28): Show |
CGB7 | ENSG00000196337.14 | transcript | ENST00000684222.1 | protein_coding | 2288 | chr19 | TogoVar | |||||||
CGNL1_chr15_57371505_57555717 | 57405772 | C | CTCCTTTC others(10): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0033 | 1 | 195 | 0.0051 | 17 | c.-16 others(36): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGREF1_chr2_27095594_27124128 | 27116923 | C | CTCTCTCT others(10): Show |
intron_variant | MODIFIER | HG01106.hp1 NA19001.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 a0001c0002t0002g0103 |
2 | 196 | 0.0102 | 17 | c.-12 others(34): Show |
CGREF1 | ENSG00000138028.17 | transcript | ENST00000402394.6 | protein_coding | 1/5 | chr2 | TogoVar |