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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFAP44_chr3_113281930_113446493 | 113441476 | CCT | C | 5_prime_UTR_variant | MODIFIER | HG00735.hp1 HG01884.hp1 HG01891.hp1 others(21): Show |
a0001a0026a0029 | a0001c0001a0026c0042a0029c0034 | a0001c0001t0009a0001c0001t0026a0001c0001t0038others(9): Show | a0001c0001t0009g0330a0001c0001t0009g0332a0001c0001t0009g0333others(21): Show | 24 | 348 | 0.0690 | -2 | c.-31 others(9): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 1/35 | 7813 | chr3 | TogoVar | |||||
CFAP44_chr3_113281930_113446493 | 113441487 | A | G | 5_prime_UTR_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0006 | 1 | 348 | 0.0029 | 0 | c.-40 others(3): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 1/35 | 7823 | chr3 | TogoVar | |||||
CFAP46_chr10_132803392_132947570 | 132942509 | T | C | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(125): Show |
a0002a0004a0005others(40): Show | a0002c0002a0002c0003a0002c0023others(57): Show | a0002c0002t0001a0002c0003t0001a0002c0023t0001others(58): Show | a0002c0002t0001g0126a0002c0002t0001g0141a0002c0002t0001g0159others(125): Show | 128 | 246 | 0.5203 | 0 | c.-25 others(3): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 1/58 | 25 | chr10 | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 35919744 | G | A | 5_prime_UTR_variant | MODIFIER | HG02723.hp2 | a0022 | a0022c0078 | a0022c0078t0003 | a0022c0078t0003g0134 | 1 | 216 | 0.0046 | 0 | c.-56 others(3): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 1/64 | 56 | chrX | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96489605 | T | A | 5_prime_UTR_variant | MODIFIER | HG04204.hp2 | a0003 | a0003c0002 | a0003c0002t0004 | a0003c0002t0004g0265 | 1 | 268 | 0.0037 | 0 | c.-5T others(2): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 1/68 | 5 | chr12 | TogoVar | |||||
CFAP57_chr1_43167330_43259358 | 43172373 | A | G | 5_prime_UTR_variant | MODIFIER | HG06807.hp2 NA18522.hp2 |
a0005 | a0005c0010 | a0005c0010t0004 | a0005c0010t0004g0061a0005c0010t0004g0062 | 2 | 308 | 0.0065 | 0 | c.-10 others(4): Show |
CFAP57 | ENSG00000243710.8 | transcript | ENST00000372492.9 | protein_coding | 1/23 | 381 | chr1 | TogoVar | |||||
CFAP57_chr1_43167330_43259358 | 43172739 | G | C | 5_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00733.hp2 HG00741.hp1 others(35): Show |
a0001a0002a0004others(3): Show | a0001c0020a0002c0003a0002c0031others(4): Show | a0001c0020t0002a0002c0003t0002a0002c0031t0002others(4): Show | a0001c0020t0002g0294a0001c0020t0002g0296a0002c0003t0002g0006others(33): Show | 38 | 308 | 0.1234 | 0 | c.-15 others(3): Show |
CFAP57 | ENSG00000243710.8 | transcript | ENST00000372492.9 | protein_coding | 2/23 | 15 | chr1 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20052579 | A | T | 5_prime_UTR_variant | MODIFIER | HG00423.hp2 HG00558.hp1 HG01074.hp1 others(16): Show |
a0001a0002a0009 | a0001c0001a0001c0003a0001c0006others(4): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(11): Show | a0001c0001t0004g0003a0001c0001t0004g0010a0001c0001t0004g0014others(16): Show | 19 | 236 | 0.0805 | 0 | c.-49 others(3): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 1/27 | 4075 | chr20 | TogoVar | |||||
CFAP65_chr2_218997846_219046516 | 219040525 | T | C | 5_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00544.hp1 others(50): Show |
a0002a0003a0007others(4): Show | a0002c0002a0003c0003a0007c0006others(5): Show | a0002c0002t0002a0003c0003t0002a0007c0006t0002others(5): Show | a0002c0002t0002g0063a0003c0003t0002g0005a0003c0003t0002g0008others(40): Show | 53 | 322 | 0.1646 | 0 | c.-9A others(2): Show |
CFAP65 | ENSG00000181378.14 | transcript | ENST00000341552.10 | protein_coding | 2/35 | 1477 | chr2 | TogoVar | |||||
CFAP69_chr7_90240174_90316063 | 90245252 | C | A | 5_prime_UTR_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0143 | 1 | 338 | 0.0030 | 0 | c.-17 others(4): Show |
CFAP69 | ENSG00000105792.19 | transcript | ENST00000389297.8 | protein_coding | 1/23 | 173 | chr7 | TogoVar | |||||
CFAP70_chr10_73248762_73363864 | 73358828 | G | C | 5_prime_UTR_variant | MODIFIER | HG00735.hp1 HG01884.hp2 HG01891.hp2 others(11): Show |
a0003a0012 | a0003c0003a0012c0007 | a0003c0003t0002a0012c0007t0002 | a0003c0003t0002g0002a0003c0003t0002g0003a0003c0003t0002g0004others(11): Show | 14 | 220 | 0.0636 | 0 | c.-90 others(3): Show |
CFAP70 | ENSG00000156042.19 | transcript | ENST00000355577.9 | protein_coding | 1/28 | 4032 | chr10 | TogoVar | |||||
CFAP70_chr10_73248762_73363864 | 73358850 | A | G | 5_prime_UTR_variant | MODIFIER | HG00735.hp1 HG01884.hp2 HG01891.hp2 others(11): Show |
a0003a0012 | a0003c0003a0012c0007 | a0003c0003t0002a0012c0007t0002 | a0003c0003t0002g0002a0003c0003t0002g0003a0003c0003t0002g0004others(11): Show | 14 | 220 | 0.0636 | 0 | c.-11 others(4): Show |
CFAP70 | ENSG00000156042.19 | transcript | ENST00000355577.9 | protein_coding | 1/28 | 4054 | chr10 | TogoVar | |||||
CFAP73_chr12_113144724_113164276 | 113149786 | A | G | 5_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG02027.hp1 others(30): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0003a0002c0002t0002g0006a0002c0002t0002g0021others(6): Show | 33 | 326 | 0.1012 | 0 | c.-72 others(3): Show |
CFAP73 | ENSG00000186710.12 | transcript | ENST00000335621.11 | protein_coding | 1/8 | 72 | chr12 | TogoVar | |||||
CFAP73_chr12_113144724_113164276 | 113149787 | A | C | 5_prime_UTR_variant | MODIFIER | NA19055.hp2 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0046 | 1 | 326 | 0.0031 | 0 | c.-71 others(3): Show |
CFAP73 | ENSG00000186710.12 | transcript | ENST00000335621.11 | protein_coding | 1/8 | 71 | chr12 | TogoVar | |||||
CFAP73_chr12_113144724_113164276 | 113149802 | T | C | 5_prime_UTR_variant | MODIFIER | HG03471.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0013 | 2 | 326 | 0.0061 | 0 | c.-56 others(3): Show |
CFAP73 | ENSG00000186710.12 | transcript | ENST00000335621.11 | protein_coding | 1/8 | 56 | chr12 | TogoVar | |||||
CFAP91_chr3_119698022_119772102 | 119703061 | C | G | 5_prime_UTR_variant | MODIFIER | HG02055.hp2 HG02572.hp2 |
a0001 | a0001c0003 | a0001c0003t0018 | a0001c0003t0018g0334a0001c0003t0018g0335 | 2 | 386 | 0.0052 | 0 | c.-38 others(3): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 1/18 | 38 | chr3 | TogoVar | |||||
CFAP91_chr3_119698022_119772102 | 119703064 | T | A | 5_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00544.hp2 others(70): Show |
a0001a0006a0014 | a0001c0002a0006c0010a0014c0028 | a0001c0002t0002a0001c0002t0006a0001c0002t0013others(6): Show | a0001c0002t0002g0001a0001c0002t0002g0006a0001c0002t0002g0007others(66): Show | 73 | 386 | 0.1891 | 0 | c.-35 others(3): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 1/18 | 35 | chr3 | TogoVar | |||||
CFAP91_chr3_119698022_119772102 | 119703087 | A | G | 5_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00544.hp2 others(82): Show |
a0001a0003a0006others(2): Show | a0001c0002a0001c0007a0003c0027others(3): Show | a0001c0002t0002a0001c0002t0006a0001c0002t0013others(11): Show | a0001c0002t0002g0001a0001c0002t0002g0006a0001c0002t0002g0007others(76): Show | 85 | 386 | 0.2202 | 0 | c.-12 others(3): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 1/18 | 12 | chr3 | TogoVar | |||||
CFAP92_chr3_128904873_128999076 | 128993991 | T | C | 5_prime_UTR_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0334 | 1 | 342 | 0.0029 | 0 | c.-44 others(3): Show |
CFAP92 | ENSG00000114656.13 | transcript | ENST00000645291.3 | protein_coding | 1/16 | 687 | chr3 | TogoVar | |||||
CFAP95_chr9_69815817_69911227 | 69820867 | C | G | 5_prime_UTR_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0287 | 1 | 380 | 0.0026 | 0 | c.-13 others(3): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/6 | 13 | chr9 | TogoVar | |||||
CFAP95_chr9_69815817_69911227 | 69820876 | T | C | 5_prime_UTR_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0137 | 1 | 380 | 0.0026 | 0 | c.-4T others(2): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/6 | 4 | chr9 | TogoVar | |||||
CFAP97D2_chr13_114174257_114228085 | 114179266 | C | T | 5_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00423.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008a0001c0001t0013 | a0001c0001t0005g0015a0001c0001t0005g0016a0001c0001t0005g0036others(23): Show | 28 | 400 | 0.0700 | 0 | c.-65 others(3): Show |
CFAP97D2 | ENSG00000283361.3 | transcript | ENST00000636692.2 | protein_coding | 1/4 | 65 | chr13 | TogoVar | |||||
CFAP97D2_chr13_114174257_114228085 | 114179306 | T | G | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(317): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(280): Show | 320 | 400 | 0.8000 | 0 | c.-25 others(3): Show |
CFAP97D2 | ENSG00000283361.3 | transcript | ENST00000636692.2 | protein_coding | 1/4 | 25 | chr13 | TogoVar | |||||
CFAP97D2_chr13_114174257_114228085 | 114179310 | C | T | 5_prime_UTR_variant | MODIFIER | HG00642.hp2 HG01361.hp2 HG01993.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0010a0001c0001t0006g0033a0001c0001t0006g0340others(9): Show | 15 | 400 | 0.0375 | 0 | c.-21 others(3): Show |
CFAP97D2 | ENSG00000283361.3 | transcript | ENST00000636692.2 | protein_coding | 1/4 | 21 | chr13 | TogoVar | |||||
CFAP97_chr4_185154665_185209000 | 185191209 | A | G | 5_prime_UTR_variant | MODIFIER | HG01109.hp1 HG02145.hp1 HG02258.hp2 others(12): Show |
a0001 | a0001c0004 | a0001c0004t0007a0001c0004t0009a0001c0004t0010others(2): Show | a0001c0004t0007g0051a0001c0004t0007g0052a0001c0004t0007g0054others(12): Show | 15 | 350 | 0.0429 | 0 | c.-13 others(3): Show |
CFAP97 | ENSG00000164323.15 | transcript | ENST00000458385.7 | protein_coding | 2/5 | 13 | chr4 | TogoVar | |||||
CFAP99_chr4_2413955_2468002 | 2418971 | G | A | 5_prime_UTR_variant | MODIFIER | HG01358.hp1 | a0002 | a0002c0001 | a0002c0001t0004 | a0002c0001t0004g0224 | 1 | 350 | 0.0029 | 0 | c.-14 others(4): Show |
CFAP99 | ENSG00000206113.12 | transcript | ENST00000635017.2 | protein_coding | 1/16 | 7505 | chr4 | TogoVar | |||||
CFAP99_chr4_2413955_2468002 | 2419004 | G | A | 5_prime_UTR_variant | MODIFIER | HG01109.hp2 HG01891.hp1 HG02257.hp2 others(9): Show |
a0001a0002a0016 | a0001c0003a0001c0004a0001c0006others(2): Show | a0001c0003t0002a0001c0004t0002a0001c0006t0002others(2): Show | a0001c0003t0002g0039a0001c0004t0002g0043a0001c0004t0002g0044others(9): Show | 12 | 350 | 0.0343 | 0 | c.-10 others(4): Show |
CFAP99 | ENSG00000206113.12 | transcript | ENST00000635017.2 | protein_coding | 1/16 | 7472 | chr4 | TogoVar | |||||
CFAP99_chr4_2413955_2468002 | 2419005 | C | A | 5_prime_UTR_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0306a0001c0002t0003g0312 | 2 | 350 | 0.0057 | 0 | c.-10 others(4): Show |
CFAP99 | ENSG00000206113.12 | transcript | ENST00000635017.2 | protein_coding | 1/16 | 7471 | chr4 | TogoVar | |||||
CFC1B_chr2_130516222_130533603 | 130521303 | A | G | 5_prime_UTR_variant | MODIFIER | HG02717.hp1 | a0005 | a0005c0005 | a0005c0005t0006 | a0005c0005t0006g0006 | 1 | 12 | 0.0833 | 0 | c.-18 others(4): Show |
CFC1B | ENSG00000152093.8 | transcript | ENST00000281882.8 | protein_coding | 1/6 | 182 | chr2 | TogoVar | |||||
CFDP1_chr16_75288710_75438503 | 75433447 | G | C | 5_prime_UTR_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0312 | 1 | 314 | 0.0032 | 0 | c.-95 others(3): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 1/7 | 95 | chr16 | TogoVar | |||||
CFDP1_chr16_75288710_75438503 | 75433461 | G | A | 5_prime_UTR_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0313 | 1 | 314 | 0.0032 | 0 | c.-10 others(4): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 1/7 | 109 | chr16 | TogoVar | |||||
CFDP1_chr16_75288710_75438503 | 75433484 | A | T | 5_prime_UTR_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG03688.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001a0001c0001t0003g0002a0001c0001t0003g0003others(1): Show | 4 | 314 | 0.0127 | 0 | c.-13 others(4): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 1/7 | 132 | chr16 | TogoVar | |||||
CFHR1_chr1_196814731_196837189 | 196819780 | C | G | 5_prime_UTR_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG02602.hp1 |
a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0001a0002c0001t0003g0019 | 3 | 275 | 0.0109 | 0 | c.-65 others(3): Show |
CFHR1 | ENSG00000244414.8 | transcript | ENST00000320493.10 | protein_coding | 1/6 | 65 | chr1 | TogoVar | |||||
CFHR2_chr1_196938738_196964622 | 196943749 | C | T | 5_prime_UTR_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0101 | 1 | 370 | 0.0027 | 0 | c.-13 others(4): Show |
CFHR2 | ENSG00000080910.14 | transcript | ENST00000367415.8 | protein_coding | 1/5 | 132 | chr1 | TogoVar | |||||
CFHR2_chr1_196938738_196964622 | 196943792 | C | T | 5_prime_UTR_variant | MODIFIER | HG03453.hp1 HG03486.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0037a0001c0001t0004g0100 | 3 | 370 | 0.0081 | 0 | c.-89 others(3): Show |
CFHR2 | ENSG00000080910.14 | transcript | ENST00000367415.8 | protein_coding | 1/5 | 89 | chr1 | TogoVar | |||||
CFHR2_chr1_196938738_196964622 | 196943816 | C | G | 5_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00597.hp2 others(28): Show |
a0001a0006a0008 | a0001c0001a0006c0009a0008c0008 | a0001c0001t0002a0006c0009t0002a0008c0008t0002 | a0001c0001t0002g0002a0001c0001t0002g0014a0001c0001t0002g0015others(8): Show | 31 | 370 | 0.0838 | 0 | c.-65 others(3): Show |
CFHR2 | ENSG00000080910.14 | transcript | ENST00000367415.8 | protein_coding | 1/5 | 65 | chr1 | TogoVar | |||||
CFHR2_chr1_196938738_196964622 | 196943855 | G | A | 5_prime_UTR_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0001 | 1 | 370 | 0.0027 | 0 | c.-26 others(3): Show |
CFHR2 | ENSG00000080910.14 | transcript | ENST00000367415.8 | protein_coding | 1/5 | 26 | chr1 | TogoVar | |||||
CFHR5_chr1_196972556_197014678 | 196977645 | T | C | 5_prime_UTR_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01175.hp2 others(48): Show |
a0001a0009 | a0001c0001a0001c0007a0001c0010others(1): Show | a0001c0001t0003a0001c0001t0007a0001c0007t0003others(2): Show | a0001c0001t0003g0029a0001c0001t0003g0030a0001c0001t0003g0031others(43): Show | 51 | 356 | 0.1433 | 0 | c.-20 others(3): Show |
CFHR5 | ENSG00000134389.11 | transcript | ENST00000256785.5 | protein_coding | 1/10 | 20 | chr1 | TogoVar | |||||
CFH_chr1_196647043_196752504 | 196652082 | G | C | 5_prime_UTR_variant | MODIFIER | HG01891.hp1 | a0014 | a0014c0018 | a0014c0018t0005 | a0014c0018t0005g0274 | 1 | 308 | 0.0033 | 0 | c.-36 others(3): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 1/22 | 36 | chr1 | TogoVar | |||||
CFI_chr4_109735695_109806999 | 109801984 | C | T | 5_prime_UTR_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01257.hp2 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0005a0001c0002t0004g0006a0001c0002t0004g0007 | 3 | 354 | 0.0085 | 0 | c.-13 others(3): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 1/13 | 13 | chr4 | TogoVar | |||||
CFLAR_chr2_201111164_201181687 | 201116223 | G | A | 5_prime_UTR_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0002 | a0001c0002t0035 | a0001c0002t0035g0032 | 1 | 234 | 0.0043 | 0 | c.-39 others(4): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 1/10 | 13643 | chr2 | TogoVar | |||||
CFLAR_chr2_201111164_201181687 | 201116426 | C | T | 5_prime_UTR_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0002 | a0001c0002t0136 | a0001c0002t0136g0053 | 1 | 234 | 0.0043 | 0 | c.-19 others(4): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 1/10 | 13440 | chr2 | TogoVar | |||||
CFLAR_chr2_201111164_201181687 | 201129855 | C | CT | 5_prime_UTR_variant | MODIFIER | HG01884.hp1 HG02615.hp1 HG02886.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0011a0001c0002t0114a0001c0002t0115others(3): Show | a0001c0002t0011g0017a0001c0002t0011g0201a0001c0002t0011g0202others(5): Show | 9 | 234 | 0.0385 | 1 | c.-10 others(4): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 2/10 | 9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
CFTR_chr7_117475025_117673665 | 117480087 | G | C | 5_prime_UTR_variant | MODIFIER | HG00642.hp1 HG02132.hp1 NA18992.hp2 others(4): Show |
a0001a0010 | a0001c0001a0010c0018 | a0001c0001t0005a0001c0001t0007a0010c0018t0005 | a0001c0001t0005g0019a0001c0001t0005g0025a0001c0001t0005g0047others(4): Show | 7 | 202 | 0.0347 | 0 | c.-8G others(2): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/27 | 8 | chr7 | TogoVar | |||||
CGAS_chr6_73418711_73457297 | 73452215 | C | T | 5_prime_UTR_variant | MODIFIER | HG06807.hp1 | a0003 | a0003c0007 | a0003c0007t0049 | a0003c0007t0049g0101 | 1 | 410 | 0.0024 | 0 | c.-34 others(3): Show |
CGAS | ENSG00000164430.17 | transcript | ENST00000370315.4 | protein_coding | 1/5 | 34 | chr6 | TogoVar | |||||
CGAS_chr6_73418711_73457297 | 73452287 | CA | C | 5_prime_UTR_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG00621.hp1 others(79): Show |
a0001 | a0001c0002a0001c0003a0001c0009others(2): Show | a0001c0002t0007a0001c0002t0013a0001c0002t0016others(25): Show | a0001c0002t0007g0015a0001c0002t0007g0049a0001c0002t0007g0050others(71): Show | 82 | 410 | 0.2000 | -1 | c.-10 others(5): Show |
CGAS | ENSG00000164430.17 | transcript | ENST00000370315.4 | protein_coding | 1/5 | 107 | chr6 | TogoVar | |||||
CGB1_chr19_49030569_49041895 | 49036762 | G | T | 5_prime_UTR_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG00621.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004a0001c0001t0003g0022 | 26 | 376 | 0.0692 | 0 | c.-51 others(3): Show |
CGB1 | ENSG00000267631.5 | transcript | ENST00000301407.8 | protein_coding | 1/3 | 51 | chr19 | TogoVar | |||||
CGB1_chr19_49030569_49041895 | 49036766 | G | A | 5_prime_UTR_variant | MODIFIER | HG01261.hp1 HG02145.hp1 |
a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0019 | 2 | 376 | 0.0053 | 0 | c.-55 others(3): Show |
CGB1 | ENSG00000267631.5 | transcript | ENST00000301407.8 | protein_coding | 1/3 | 55 | chr19 | TogoVar | |||||
CGB1_chr19_49030569_49041895 | 49036784 | G | A | 5_prime_UTR_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0039 | 1 | 376 | 0.0027 | 0 | c.-73 others(3): Show |
CGB1 | ENSG00000267631.5 | transcript | ENST00000301407.8 | protein_coding | 1/3 | 73 | chr19 | TogoVar | |||||
CGB1_chr19_49030569_49041895 | 49036834 | C | A | 5_prime_UTR_variant | MODIFIER | NA18944.hp2 NA19012.hp1 NA19054.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0013 | 3 | 376 | 0.0080 | 0 | c.-12 others(4): Show |
CGB1 | ENSG00000267631.5 | transcript | ENST00000301407.8 | protein_coding | 1/3 | 123 | chr19 | TogoVar |