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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFAP251_chr12_121913592_122008919 | 121931370 | TGGCGCGA others(17): Show |
T | intron_variant | MODIFIER | HG02145.hp2 | a0006 | a0006c0011 | a0006c0011t0001 | a0006c0011t0001g0347 | 1 | 354 | 0.0028 | -24 | c.748 others(39): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 3/21 | chr12 | TogoVar | ||||||
CFAP251_chr12_121913592_122008919 | 121998432 | AATATATA others(17): Show |
A | intron_variant | MODIFIER | HG01168.hp2 HG01243.hp1 HG01255.hp1 others(8): Show |
a0003a0007 | a0003c0003a0007c0007 | a0003c0003t0001a0007c0007t0001 | a0003c0003t0001g0330a0007c0007t0001g0068a0007c0007t0001g0069others(8): Show | 11 | 354 | 0.0311 | -24 | c.300 others(43): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP276_chr1_109100951_109117747 | 109113416 | AAGAGAGA others(17): Show |
A | upstream_gene_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 404 | 0.0025 | -24 | c.-76 others(33): Show |
CFAP276 | ENSG00000179902.13 | transcript | ENST00000369948.8 | protein_coding | 670 | chr1 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80916252 | AATATATA others(17): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02280.hp1 HG02647.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0024a0001c0001t0001g0025a0001c0001t0001g0029others(5): Show | 8 | 96 | 0.0833 | -24 | c.477 others(43): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP46_chr10_132803392_132947570 | 132877944 | ATTCTCCT others(17): Show |
A | disruptive_inframe_deletion | MODERATE | HG01069.hp2 | a0070 | a0070c0074 | a0070c0074t0002 | a0070c0074t0002g0006 | 1 | 246 | 0.0041 | -24 | c.412 others(33): Show |
p.Lys others(15): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 30/58 | 4234/8263 | 4125/8148 | 1375/2715 | chr10 | TogoVar | ||
CFAP46_chr10_132803392_132947570 | 132946851 | CCAGCATC others(17): Show |
C | upstream_gene_variant | MODIFIER | NA20905.hp2 | a0071 | a0071c0098 | a0071c0098t0002 | a0071c0098t0002g0023 | 1 | 246 | 0.0041 | -24 | c.-43 others(35): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 4282 | chr10 | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 36243647 | GTATATAT others(17): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG02257.hp2 HG02615.hp2 others(6): Show |
a0010a0011a0028others(1): Show | a0010c0007a0011c0046a0011c0049others(2): Show | a0010c0007t0001a0011c0046t0001a0011c0049t0001others(2): Show | a0010c0007t0001g0194a0010c0007t0001g0195a0010c0007t0001g0196others(6): Show | 9 | 216 | 0.0417 | -24 | c.733 others(43): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 48/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36248309 | TAAAATAT others(17): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00621.hp1 others(41): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0029a0002c0002others(13): Show | a0001c0001t0001a0001c0029t0001a0002c0002t0001others(13): Show | a0001c0001t0001g0036a0001c0001t0001g0084a0001c0029t0001g0083others(41): Show | 44 | 216 | 0.2037 | -24 | c.733 others(43): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 48/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36364438 | TAATAAAT others(17): Show |
T | intron_variant | MODIFIER | HG01255.hp1 HG02559.hp1 HG02922.hp1 others(3): Show |
a0031a0034a0041others(3): Show | a0031c0034a0034c0037a0041c0075others(3): Show | a0031c0034t0001a0034c0037t0001a0041c0075t0001others(3): Show | a0031c0034t0001g0107a0034c0037t0001g0014a0041c0075t0001g0135others(3): Show | 6 | 216 | 0.0278 | -24 | c.902 others(43): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 61/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP52_chr17_9571642_9648447 | 9596059 | GTATATAT others(17): Show |
G | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0030 | 1 | 316 | 0.0032 | -24 | c.536 others(41): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CFAP52_chr17_9571642_9648447 | 9624656 | GTACCTGG others(17): Show |
G | intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0099 | 1 | 316 | 0.0032 | -24 | c.102 others(43): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CFAP52_chr17_9571642_9648447 | 9631016 | AAGAAAGA others(17): Show |
A | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0022 | 1 | 316 | 0.0032 | -24 | c.117 others(43): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CFAP52_chr17_9571642_9648447 | 9636229 | AAGAAAGA others(17): Show |
A | intron_variant | MODIFIER | NA18948.hp2 NA18971.hp2 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0144a0002c0001t0001g0280 | 2 | 316 | 0.0063 | -24 | c.147 others(41): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96495238 | CTCCTTCC others(17): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01099.hp1 HG01106.hp2 others(17): Show |
a0007a0009a0010others(7): Show | a0007c0019a0007c0028a0007c0077others(10): Show | a0007c0019t0001a0007c0028t0001a0007c0077t0001others(10): Show | a0007c0019t0001g0190a0007c0028t0001g0181a0007c0028t0001g0182others(17): Show | 20 | 268 | 0.0746 | -24 | c.317 others(41): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 1/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96704452 | GTATATAT others(17): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00609.hp2 others(19): Show |
a0002a0012a0027others(2): Show | a0002c0003a0002c0058a0012c0021others(3): Show | a0002c0003t0001a0002c0003t0002a0002c0058t0001others(4): Show | a0002c0003t0001g0133a0002c0003t0001g0155a0002c0003t0001g0156others(19): Show | 22 | 268 | 0.0821 | -24 | c.647 others(41): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 46/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96806159 | AATATATA others(17): Show |
A | intron_variant | MODIFIER | HG02922.hp1 NA18966.hp1 |
a0009a0054 | a0009c0008a0054c0034 | a0009c0008t0001a0054c0034t0001 | a0009c0008t0001g0207a0054c0034t0001g0006 | 2 | 268 | 0.0075 | -24 | c.885 others(43): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 63/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP57_chr1_43167330_43259358 | 43172563 | GGGGGAGG others(17): Show |
G | intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 308 | 0.0033 | -24 | c.-19 others(39): Show |
CFAP57 | ENSG00000243710.8 | transcript | ENST00000372492.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFAP58_chr10_104348833_104460102 | 104396369 | TGAGAGAG others(17): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG01123.hp2 HG01884.hp1 others(19): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0003t0002a0001c0004t0001others(4): Show | a0001c0001t0001g0154a0001c0001t0001g0242a0001c0003t0002g0195others(19): Show | 22 | 308 | 0.0714 | -24 | c.167 others(43): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20106000 | CTATATAT others(17): Show |
C | intron_variant | MODIFIER | HG02896.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0136 | 1 | 236 | 0.0042 | -24 | c.859 others(41): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 8/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20118253 | GTTTCTTT others(17): Show |
G | intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0015 | a0001c0015t0002 | a0001c0015t0002g0233 | 1 | 236 | 0.0042 | -24 | c.859 others(43): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 8/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP65_chr2_218997846_219046516 | 219043899 | TCTCTCAC others(17): Show |
T | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02258.hp2 others(15): Show |
a0003a0007a0008others(3): Show | a0003c0003a0007c0006a0008c0010others(5): Show | a0003c0003t0002a0007c0006t0003a0008c0010t0001others(6): Show | a0003c0003t0002g0017a0003c0003t0002g0091a0007c0006t0003g0041others(13): Show | 18 | 322 | 0.0559 | -24 | c.-24 others(35): Show |
CFAP65 | ENSG00000181378.14 | transcript | ENST00000341552.10 | protein_coding | 2384 | chr2 | TogoVar | ||||||
CFAP68_chr11_111874541_111890975 | 111886744 | ATATATAT others(17): Show |
A | downstream_gene_variant | MODIFIER | HG02083.hp1 HG02602.hp1 HG03491.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0021 | a0001c0001t0002g0001a0001c0001t0002g0023a0001c0001t0021g0001 | 5 | 392 | 0.0128 | -24 | c.*28 others(35): Show |
CFAP68 | ENSG00000137720.8 | transcript | ENST00000260276.8 | protein_coding | 770 | chr11 | TogoVar | ||||||
CFAP70_chr10_73248762_73363864 | 73284739 | CATATATA others(17): Show |
C | intron_variant | MODIFIER | NA18906.hp2 NA18978.hp2 NA18986.hp2 |
a0001a0013 | a0001c0001a0013c0011 | a0001c0001t0001a0013c0011t0001 | a0001c0001t0001g0149a0001c0001t0001g0178a0013c0011t0001g0102 | 3 | 220 | 0.0136 | -24 | c.245 others(43): Show |
CFAP70 | ENSG00000156042.19 | transcript | ENST00000355577.9 | protein_coding | 20/27 | chr10 | TogoVar | ||||||
CFAP70_chr10_73248762_73363864 | 73316461 | GAGATATA others(17): Show |
G | intron_variant | MODIFIER | HG00621.hp2 NA18952.hp2 NA18970.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0039a0002c0002t0001g0051a0002c0002t0001g0052others(4): Show | 7 | 220 | 0.0318 | -24 | c.112 others(43): Show |
CFAP70 | ENSG00000156042.19 | transcript | ENST00000355577.9 | protein_coding | 10/27 | chr10 | TogoVar | ||||||
CFAP70_chr10_73248762_73363864 | 73351067 | GTGTGTAT others(17): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00558.hp2 others(38): Show |
a0002a0011 | a0002c0002a0011c0014 | a0002c0002t0001a0011c0014t0001 | a0002c0002t0001g0031a0002c0002t0001g0032a0002c0002t0001g0033others(38): Show | 41 | 220 | 0.1864 | -24 | c.250 others(41): Show |
CFAP70 | ENSG00000156042.19 | transcript | ENST00000355577.9 | protein_coding | 3/27 | chr10 | TogoVar | ||||||
CFAP70_chr10_73248762_73363864 | 73351069 | GTGTATAT others(17): Show |
G | intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 220 | 0.0046 | -24 | c.250 others(41): Show |
CFAP70 | ENSG00000156042.19 | transcript | ENST00000355577.9 | protein_coding | 3/27 | chr10 | TogoVar | ||||||
CFAP77_chr9_132405211_132578319 | 132485985 | CATATATA others(17): Show |
C | intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0011 | 1 | 322 | 0.0031 | -24 | c.196 others(43): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP77_chr9_132405211_132578319 | 132486018 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0273 | 1 | 322 | 0.0031 | -24 | c.196 others(43): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP77_chr9_132405211_132578319 | 132486040 | ATGTATGT others(17): Show |
A | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 322 | 0.0031 | -24 | c.196 others(43): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP77_chr9_132405211_132578319 | 132561639 | ACACACAC others(17): Show |
A | intron_variant | MODIFIER | HG01167.hp2 HG01891.hp1 HG01943.hp2 others(32): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0021others(32): Show | 35 | 322 | 0.1087 | -24 | c.733 others(43): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP90_chr5_7825378_7856133 | 7850785 | TGCCCAGC others(17): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00609.hp2 HG01074.hp1 others(60): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0031a0001c0001t0001g0070a0001c0001t0002g0062others(28): Show | 63 | 420 | 0.1500 | -24 | c.147 others(37): Show |
CFAP90 | ENSG00000215217.7 | transcript | ENST00000399810.7 | protein_coding | 1/2 | chr5 | TogoVar | ||||||
CFAP92_chr3_128904873_128999076 | 128953576 | TCCCTCTC others(17): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02257.hp1 HG02451.hp1 others(11): Show |
a0001 | a0001c0003a0001c0021 | a0001c0003t0001a0001c0021t0001 | a0001c0003t0001g0004a0001c0003t0001g0188a0001c0003t0001g0189others(10): Show | 14 | 342 | 0.0409 | -24 | c.135 others(43): Show |
CFAP92 | ENSG00000114656.13 | transcript | ENST00000645291.3 | protein_coding | 9/15 | chr3 | TogoVar | ||||||
CFAP92_chr3_128904873_128999076 | 128975426 | GGGATGGA others(17): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG02622.hp2 HG02970.hp1 others(3): Show |
a0003a0007 | a0003c0006a0007c0028 | a0003c0006t0002a0007c0028t0002 | a0003c0006t0002g0180a0003c0006t0002g0181a0003c0006t0002g0182others(3): Show | 6 | 342 | 0.0175 | -24 | c.102 others(41): Show |
CFAP92 | ENSG00000114656.13 | transcript | ENST00000645291.3 | protein_coding | 7/15 | chr3 | TogoVar | ||||||
CFAP95_chr9_69815817_69911227 | 69843505 | CCCTCCTC others(17): Show |
C | intron_variant | MODIFIER | HG02258.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0093 | 1 | 380 | 0.0026 | -24 | c.153 others(39): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP95_chr9_69815817_69911227 | 69843545 | CCTCCTCC others(17): Show |
C | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 380 | 0.0026 | -24 | c.153 others(39): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP95_chr9_69815817_69911227 | 69843557 | CCTTCTTC others(17): Show |
C | intron_variant | MODIFIER | HG01934.hp1 NA19001.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0122a0001c0002t0001g0324 | 2 | 380 | 0.0053 | -24 | c.153 others(39): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP95_chr9_69815817_69911227 | 69843607 | TTCTTCTT others(17): Show |
T | intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0050 | 1 | 380 | 0.0026 | -24 | c.153 others(39): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP99_chr4_2413955_2468002 | 2446368 | GTTATTAT others(17): Show |
G | intron_variant | MODIFIER | HG01192.hp1 HG03098.hp2 HG03130.hp1 others(2): Show |
a0001a0002 | a0001c0003a0001c0006a0002c0001 | a0001c0003t0001a0001c0006t0001a0002c0001t0001 | a0001c0003t0001g0025a0001c0003t0001g0026a0001c0003t0001g0027others(2): Show | 5 | 350 | 0.0143 | -24 | c.642 others(41): Show |
CFAP99 | ENSG00000206113.12 | transcript | ENST00000635017.2 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFHR5_chr1_196972556_197014678 | 196999359 | GTGTCCAT others(17): Show |
G | intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 356 | 0.0028 | -24 | c.114 others(43): Show |
CFHR5 | ENSG00000134389.11 | transcript | ENST00000256785.5 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFH_chr1_196647043_196752504 | 196692746 | TTTTCTTT others(17): Show |
T | intron_variant | MODIFIER | HG00609.hp2 HG00741.hp2 HG01168.hp1 others(24): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(3): Show | a0001c0001t0001g0037a0001c0001t0001g0043a0001c0001t0001g0049others(24): Show | 27 | 308 | 0.0877 | -24 | c.133 others(43): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFI_chr4_109735695_109806999 | 109756888 | GGAAAGAA others(17): Show |
G | intron_variant | MODIFIER | HG01070.hp2 HG01168.hp1 HG01169.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0171a0001c0001t0001g0185a0001c0001t0001g0188others(19): Show | 22 | 354 | 0.0622 | -24 | c.904 others(39): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | ||||||
CFLAR_chr2_201111164_201181687 | 201114024 | ATATATAT others(17): Show |
A | upstream_gene_variant | MODIFIER | HG01099.hp2 HG02027.hp2 HG02486.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0012a0001c0002t0127 | a0001c0001t0004g0130a0001c0002t0012g0031a0001c0002t0127g0027 | 3 | 234 | 0.0128 | -24 | c.-25 others(35): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 2139 | chr2 | TogoVar | ||||||
CFLAR_chr2_201111164_201181687 | 201114026 | ATATATAT others(17): Show |
A | upstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0002 | a0001c0002t0119 | a0001c0002t0119g0035 | 1 | 234 | 0.0043 | -24 | c.-25 others(35): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 2137 | chr2 | TogoVar | ||||||
CFLAR_chr2_201111164_201181687 | 201114030 | ATATATAT others(17): Show |
A | upstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0002 | a0001c0002t0035 | a0001c0002t0035g0032 | 1 | 234 | 0.0043 | -24 | c.-25 others(35): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 2133 | chr2 | TogoVar | ||||||
CFTR_chr7_117475025_117673665 | 117612006 | GATATATA others(17): Show |
G | intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0050 | 1 | 202 | 0.0050 | -24 | c.336 others(41): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57374538 | TTGTGTGT others(17): Show |
T | upstream_gene_variant | MODIFIER | HG02055.hp2 HG03139.hp2 NA19030.hp2 |
a0014a0028 | a0014c0016a0028c0021 | a0014c0016t0001a0014c0016t0004a0028c0021t0008 | a0014c0016t0001g0008a0014c0016t0004g0009a0028c0021t0008g0007 | 3 | 294 | 0.0102 | -24 | c.-20 others(35): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1966 | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57405787 | TTTCTTTC others(17): Show |
T | intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0245 | 1 | 294 | 0.0034 | -24 | c.-16 others(43): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGREF1_chr2_27095594_27124128 | 27116871 | TTCTCTCT others(17): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02976.hp2 |
a0002 | a0002c0003 | a0002c0003t0002a0002c0003t0018 | a0002c0003t0002g0149a0002c0003t0018g0324 | 2 | 352 | 0.0057 | -24 | c.-12 others(41): Show |
CGREF1 | ENSG00000138028.17 | transcript | ENST00000402394.6 | protein_coding | 1/5 | chr2 | TogoVar | ||||||
CHADL_chr22_41224513_41245931 | 41242143 | CATATATA others(17): Show |
C | upstream_gene_variant | MODIFIER | HG02647.hp1 NA19079.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0178 | 2 | 414 | 0.0048 | -24 | c.-12 others(35): Show |
CHADL | ENSG00000100399.16 | transcript | ENST00000216241.14 | protein_coding | 1213 | chr22 | TogoVar | ||||||
CHAD_chr17_50459496_50473880 | 50471228 | CAAATGGC others(17): Show |
C | upstream_gene_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 386 | 0.0026 | -24 | c.-24 others(35): Show |
CHAD | ENSG00000136457.10 | transcript | ENST00000508540.6 | protein_coding | 2349 | chr17 | TogoVar |