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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFAP74_chr1_1916957_2008786 | 1971233 | GCACACAC others(5): Show |
G | intron_variant | MODIFIER | HG02040.hp2 HG02080.hp1 HG02135.hp2 others(8): Show |
a0003a0018a0019others(3): Show | a0003c0015a0018c0027a0019c0026others(3): Show | a0003c0015t0001a0003c0015t0007a0018c0027t0001others(4): Show | a0003c0015t0001g0168a0003c0015t0001g0186a0003c0015t0001g0189others(8): Show | 11 | 278 | 0.0396 | -12 | c.889 others(27): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 9/38 | chr1 | TogoVar | ||||||
CFAP77_chr9_132405211_132578319 | 132411880 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG03098.hp2 NA18906.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0002 | a0001c0001t0002g0320a0001c0004t0002g0319 | 2 | 322 | 0.0062 | -12 | c.195 others(29): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP77_chr9_132405211_132578319 | 132449893 | AGTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG04184.hp2 NA18952.hp2 NA19003.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0122a0002c0003t0001g0097a0002c0003t0001g0238 | 3 | 322 | 0.0093 | -12 | c.195 others(31): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP77_chr9_132405211_132578319 | 132459420 | GGTGTGTG others(5): Show |
G | intron_variant | MODIFIER | HG00544.hp2 NA19064.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0213a0002c0003t0001g0308 | 2 | 322 | 0.0062 | -12 | c.196 others(31): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP77_chr9_132405211_132578319 | 132485985 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 | 1 | 322 | 0.0031 | -12 | c.196 others(31): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP77_chr9_132405211_132578319 | 132486030 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG02572.hp1 HG02809.hp2 HG02922.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0001a0001c0004t0002a0001c0005t0005 | a0001c0001t0001g0145a0001c0001t0001g0173a0001c0001t0001g0175others(2): Show | 5 | 322 | 0.0155 | -12 | c.196 others(31): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP77_chr9_132405211_132578319 | 132486044 | ATGTATAT others(5): Show |
A | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0288 | 1 | 322 | 0.0031 | -12 | c.196 others(31): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP77_chr9_132405211_132578319 | 132519574 | AGATGGAT others(5): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02486.hp1 HG02647.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0167a0001c0004t0001g0191a0001c0004t0001g0270 | 3 | 322 | 0.0093 | -12 | c.525 others(31): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP77_chr9_132405211_132578319 | 132519642 | AGATGGAT others(5): Show |
A | intron_variant | MODIFIER | HG02004.hp2 HG02257.hp1 HG02647.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0039a0001c0002t0001g0060a0001c0002t0001g0071others(2): Show | 5 | 322 | 0.0155 | -12 | c.525 others(31): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP77_chr9_132405211_132578319 | 132519812 | GTGGATGG others(5): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(189): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(24): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0020others(189): Show | 192 | 322 | 0.5963 | -12 | c.525 others(31): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP77_chr9_132405211_132578319 | 132554939 | CCCATCCA others(5): Show |
C | intron_variant | MODIFIER | HG01952.hp2 NA18944.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0109a0001c0002t0001g0237 | 2 | 322 | 0.0062 | -12 | c.732 others(31): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP77_chr9_132405211_132578319 | 132561604 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG01192.hp2 HG02056.hp1 others(6): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0002c0019others(1): Show | a0001c0001t0001a0002c0003t0001a0002c0003t0002others(2): Show | a0001c0001t0001g0141a0002c0003t0001g0015a0002c0003t0001g0072others(6): Show | 9 | 322 | 0.0280 | -12 | c.733 others(31): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP77_chr9_132405211_132578319 | 132561651 | ACACACAC others(5): Show |
A | intron_variant | MODIFIER | HG01074.hp2 HG03041.hp1 HG03579.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0001t0010a0001c0004t0002others(1): Show | a0001c0001t0001g0155a0001c0001t0010g0224a0001c0004t0002g0317others(1): Show | 4 | 322 | 0.0124 | -12 | c.733 others(31): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP77_chr9_132405211_132578319 | 132566003 | CCAGGCAG others(5): Show |
C | intron_variant | MODIFIER | NA19078.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 322 | 0.0031 | -12 | c.733 others(29): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 5/5 | chr9 | TogoVar | ||||||
CFAP91_chr3_119698022_119772102 | 119713083 | TTTTATTT others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(209): Show |
a0001a0004a0007others(4): Show | a0001c0001a0001c0002a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0010others(194): Show | 212 | 386 | 0.5492 | -12 | c.501 others(29): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CFAP91_chr3_119698022_119772102 | 119730601 | AGTGTGTG others(5): Show |
A | intron_variant | MODIFIER | HG01099.hp2 HG01106.hp2 HG01168.hp1 others(17): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0004a0001c0002t0002a0001c0002t0020others(4): Show | a0001c0001t0004g0012a0001c0001t0004g0160a0001c0002t0002g0049others(15): Show | 20 | 386 | 0.0518 | -12 | c.101 others(29): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CFAP91_chr3_119698022_119772102 | 119738332 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02698.hp1 NA18950.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0022 | a0001c0001t0001g0140a0001c0001t0001g0249a0001c0001t0001g0298others(1): Show | 4 | 386 | 0.0104 | -12 | c.146 others(29): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CFAP92_chr3_128904873_128999076 | 128948377 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG00738.hp1 others(61): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0003a0001c0002t0001a0001c0003t0001others(7): Show | a0001c0001t0003g0144a0001c0001t0003g0145a0001c0001t0003g0146others(58): Show | 64 | 342 | 0.1871 | -12 | c.135 others(31): Show |
CFAP92 | ENSG00000114656.13 | transcript | ENST00000645291.3 | protein_coding | 9/15 | chr3 | TogoVar | ||||||
CFAP92_chr3_128904873_128999076 | 128953600 | CCCCTCTC others(5): Show |
C | intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 342 | 0.0029 | -12 | c.135 others(31): Show |
CFAP92 | ENSG00000114656.13 | transcript | ENST00000645291.3 | protein_coding | 9/15 | chr3 | TogoVar | ||||||
CFAP95_chr9_69815817_69911227 | 69841164 | TTATATAT others(5): Show |
T | intron_variant | MODIFIER | HG03486.hp1 NA20805.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0370a0001c0002t0001g0254 | 2 | 380 | 0.0053 | -12 | c.153 others(29): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP95_chr9_69815817_69911227 | 69843505 | CCCTCCTC others(5): Show |
C | intron_variant | MODIFIER | HG03516.hp1 NA20905.hp1 |
a0001a0003 | a0001c0001a0003c0012 | a0001c0001t0001a0003c0012t0001 | a0001c0001t0001g0245a0003c0012t0001g0097 | 2 | 380 | 0.0053 | -12 | 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 | 69843548 | CCTCCTCC others(5): Show |
C | intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231 | 1 | 380 | 0.0026 | -12 | 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 | 69843554 | CCTCCTTC others(5): Show |
C | intron_variant | MODIFIER | NA18941.hp2 NA19080.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089a0001c0001t0001g0227 | 2 | 380 | 0.0053 | -12 | 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 | 69843557 | CCTTCTTC others(5): Show |
C | intron_variant | MODIFIER | HG01496.hp1 HG02698.hp1 NA18989.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0209a0001c0001t0001g0266a0001c0002t0001g0218others(1): Show | 4 | 380 | 0.0105 | -12 | 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 | 69885289 | TAATATTG others(5): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00423.hp1 others(116): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(4): Show | a0001c0001t0001g0055a0001c0001t0001g0058a0001c0001t0001g0091others(115): Show | 119 | 380 | 0.3132 | -12 | c.450 others(29): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP97D2_chr13_114174257_114228085 | 114225486 | GAGGGGGA others(5): Show |
G | downstream_gene_variant | MODIFIER | NA18945.hp2 NA18979.hp2 NA18984.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002a0001c0001t0002g0292a0001c0001t0002g0293others(2): Show | 7 | 400 | 0.0175 | -12 | c.*29 others(23): Show |
CFAP97D2 | ENSG00000283361.3 | transcript | ENST00000636692.2 | protein_coding | 2402 | chr13 | TogoVar | ||||||
CFAP99_chr4_2413955_2468002 | 2436634 | ACTGCCTC others(5): Show |
A | intron_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0062 | 1 | 350 | 0.0029 | -12 | c.112 others(27): Show |
CFAP99 | ENSG00000206113.12 | transcript | ENST00000635017.2 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP99_chr4_2413955_2468002 | 2446368 | GTTATTAT others(5): Show |
G | intron_variant | MODIFIER | HG01975.hp2 HG03471.hp1 |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0167a0001c0006t0001g0168 | 2 | 350 | 0.0057 | -12 | c.642 others(29): Show |
CFAP99 | ENSG00000206113.12 | transcript | ENST00000635017.2 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP99_chr4_2413955_2468002 | 2447645 | GTGGATGG others(5): Show |
G | intron_variant | MODIFIER | HG01074.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0052 | 1 | 350 | 0.0029 | -12 | c.643 others(29): Show |
CFAP99 | ENSG00000206113.12 | transcript | ENST00000635017.2 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP99_chr4_2413955_2468002 | 2447917 | ATGAATGG others(5): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00438.hp2 others(66): Show |
a0001a0003a0006others(4): Show | a0001c0002a0001c0003a0001c0004others(13): Show | a0001c0002t0001a0001c0003t0001a0001c0004t0001others(14): Show | a0001c0002t0001g0011a0001c0002t0001g0053a0001c0002t0001g0055others(62): Show | 69 | 350 | 0.1971 | -12 | c.643 others(29): Show |
CFAP99 | ENSG00000206113.12 | transcript | ENST00000635017.2 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP99_chr4_2413955_2468002 | 2447929 | GTGGATGG others(5): Show |
G | intron_variant | MODIFIER | HG00609.hp2 HG01884.hp1 HG02055.hp2 others(8): Show |
a0001a0002 | a0001c0003a0002c0001a0002c0005 | a0001c0003t0001a0002c0001t0001a0002c0005t0001 | a0001c0003t0001g0016a0001c0003t0001g0021a0001c0003t0001g0126others(6): Show | 11 | 350 | 0.0314 | -12 | c.643 others(29): Show |
CFAP99 | ENSG00000206113.12 | transcript | ENST00000635017.2 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFB_chr6_31941095_31957084 | 31954663 | TGTCTCGA others(5): Show |
T | downstream_gene_variant | MODIFIER | HG01934.hp1 HG01952.hp1 HG01975.hp1 others(4): Show |
a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0013a0001c0008t0001g0021 | 7 | 431 | 0.0162 | -12 | c.*26 others(23): Show |
CFB | ENSG00000243649.10 | transcript | ENST00000425368.7 | protein_coding | 2580 | chr6 | TogoVar | ||||||
CFC1_chr2_130587165_130604575 | 130588080 | ATTATTTT others(5): Show |
A | downstream_gene_variant | MODIFIER | HG01069.hp1 HG01175.hp2 HG01346.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0005a0001c0001t0001g0015a0002c0002t0002g0007others(1): Show | 5 | 242 | 0.0207 | -12 | c.*47 others(23): Show |
CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 4084 | chr2 | TogoVar | ||||||
CFC1_chr2_130587165_130604575 | 130588083 | ATTTTTTT others(5): Show |
A | downstream_gene_variant | MODIFIER | HG02109.hp2 HG02615.hp2 HG03139.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0005 | 4 | 242 | 0.0165 | -12 | c.*47 others(23): Show |
CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 4081 | chr2 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75297145 | CTTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 314 | 0.0032 | -12 | c.810 others(29): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 6/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75303365 | CTAAATAA others(5): Show |
C | intron_variant | MODIFIER | HG01433.hp1 HG02109.hp2 HG02280.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190a0001c0001t0001g0191a0001c0001t0001g0192others(4): Show | 7 | 314 | 0.0223 | -12 | c.809 others(29): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 6/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75346582 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02083.hp2 HG02280.hp1 HG02602.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132a0001c0001t0001g0141a0001c0001t0001g0142others(8): Show | 11 | 314 | 0.0350 | -12 | c.651 others(31): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75353748 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG01109.hp2 others(34): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0005c0005 | a0001c0001t0001a0001c0001t0002a0002c0003t0002others(1): Show | a0001c0001t0001g0149a0001c0001t0001g0150a0001c0001t0002g0147others(34): Show | 37 | 314 | 0.1178 | -12 | c.650 others(31): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75356911 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117a0001c0001t0001g0118 | 2 | 314 | 0.0064 | -12 | c.650 others(31): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75384852 | CTATATAT others(5): Show |
C | intron_variant | MODIFIER | HG02615.hp1 HG02622.hp2 NA19003.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0128a0001c0002t0001g0071a0001c0002t0001g0076others(1): Show | 4 | 314 | 0.0127 | -12 | c.650 others(31): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75393737 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG04228.hp2 NA19089.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0213a0001c0001t0001g0224a0001c0002t0001g0038 | 3 | 314 | 0.0096 | -12 | c.650 others(29): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75418252 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0069 | 1 | 314 | 0.0032 | -12 | c.65- others(27): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 1/6 | chr16 | TogoVar | ||||||
CFD_chr19_854664_868641 | 857033 | AAAATAAA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00735.hp2 others(35): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(21): Show | 38 | 287 | 0.1324 | -12 | c.-26 others(23): Show |
CFD | ENSG00000197766.9 | transcript | ENST00000327726.11 | protein_coding | 2630 | chr19 | TogoVar | ||||||
CFD_chr19_854664_868641 | 857426 | CAGGATGG others(5): Show |
C | upstream_gene_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0001 | 1 | 287 | 0.0035 | -12 | c.-22 others(23): Show |
CFD | ENSG00000197766.9 | transcript | ENST00000327726.11 | protein_coding | 2237 | chr19 | TogoVar | ||||||
CFHR1_chr1_196814731_196837189 | 196823097 | ATATATGT others(5): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG03486.hp1 NA19240.hp1 |
a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0016 | 3 | 275 | 0.0109 | -12 | c.59- others(27): Show |
CFHR1 | ENSG00000244414.8 | transcript | ENST00000320493.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFHR3_chr1_196769840_196800407 | 196773681 | TATATATA others(5): Show |
T | upstream_gene_variant | MODIFIER | NA18954.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0005 | 1 | 261 | 0.0038 | -12 | c.-12 others(23): Show |
CFHR3 | ENSG00000116785.15 | transcript | ENST00000367425.9 | protein_coding | 1158 | chr1 | TogoVar | ||||||
CFHR3_chr1_196769840_196800407 | 196790738 | TAATAAAT others(5): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02523.hp1 NA18945.hp1 others(5): Show |
a0001a0003a0005 | a0001c0003a0003c0004a0005c0007 | a0001c0003t0001a0003c0004t0005a0005c0007t0007 | a0001c0003t0001g0038a0003c0004t0005g0010a0005c0007t0007g0031others(1): Show | 8 | 261 | 0.0307 | -12 | c.796 others(27): Show |
CFHR3 | ENSG00000116785.15 | transcript | ENST00000367425.9 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFHR3_chr1_196769840_196800407 | 196799111 | ATGTATAT others(5): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(124): Show |
a0001a0002a0003others(2): Show | a0001c0002a0002c0001a0003c0004others(2): Show | a0001c0002t0001a0002c0001t0002a0002c0001t0003others(8): Show | a0001c0002t0001g0112a0002c0001t0002g0003a0002c0001t0002g0004others(64): Show | 127 | 261 | 0.4866 | -12 | c.*55 others(23): Show |
CFHR3 | ENSG00000116785.15 | transcript | ENST00000367425.9 | protein_coding | 3705 | chr1 | TogoVar | ||||||
CFHR5_chr1_196972556_197014678 | 196999683 | GTATATAT others(5): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00423.hp1 others(55): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0004a0005c0009others(2): Show | a0001c0001t0001a0001c0001t0006a0002c0004t0005others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0013others(31): Show | 58 | 356 | 0.1629 | -12 | c.114 others(31): Show |
CFHR5 | ENSG00000134389.11 | transcript | ENST00000256785.5 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFHR5_chr1_196972556_197014678 | 196999722 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00597.hp1 HG00741.hp1 HG01168.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0042a0001c0001t0001g0045others(9): Show | 19 | 356 | 0.0534 | -12 | c.114 others(31): Show |
CFHR5 | ENSG00000134389.11 | transcript | ENST00000256785.5 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |