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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEP89_chr19_32870925_32976958 | 32948376 | T | G | splice_region_variant others(1): Show |
LOW | HG01123.hp2 | a0001 | a0001c0002 | a0001c0002t0024 | a0001c0002t0024g0072 | 1 | 386 | 0.0026 | 0 | c.493 others(5): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 4/18 | chr19 | TogoVar | ||||||
CEP89_chr19_32870925_32976958 | 32953801 | C | T | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00408.hp1 HG00423.hp2 others(153): Show |
a0000a0001a0003others(5): Show | a0000c0012a0001c0002a0001c0016others(8): Show | a0000c0012t0004a0000c0012t0021a0001c0002t0001others(26): Show | a0000c0012t0004g0065a0000c0012t0021g0015a0001c0002t0001g0001others(149): Show | 156 | 386 | 0.4042 | 0 | c.306 others(3): Show |
p.Arg others(6): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 4/19 | 390/5673 | 306/2352 | 102/783 | chr19 | TogoVar | ||
CEP89_chr19_32870925_32976958 | 32959900 | C | T | missense_variant others(1): Show |
MODERATE | HG02055.hp1 HG02145.hp2 HG02717.hp1 others(13): Show |
a0005a0006 | a0005c0008a0006c0009 | a0005c0008t0006a0006c0009t0011 | a0005c0008t0006g0087a0005c0008t0006g0088a0005c0008t0006g0089others(13): Show | 16 | 386 | 0.0415 | 0 | c.305 others(3): Show |
p.Arg others(6): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 3/19 | 389/5673 | 305/2352 | 102/783 | chr19 | TogoVar | ||
CEP95_chr17_64501977_64542946 | 64510169 | C | A | splice_region_variant others(1): Show |
LOW | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035 | 1 | 248 | 0.0040 | 0 | c.149 others(5): Show |
CEP95 | ENSG00000258890.8 | transcript | ENST00000556440.7 | protein_coding | 2/19 | chr17 | TogoVar | ||||||
CEP95_chr17_64501977_64542946 | 64522694 | C | T | splice_region_variant others(1): Show |
LOW | HG02109.hp2 HG02486.hp1 HG02922.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012a0001c0001t0002g0018a0001c0001t0002g0054others(5): Show | 11 | 248 | 0.0444 | 0 | c.716 others(5): Show |
CEP95 | ENSG00000258890.8 | transcript | ENST00000556440.7 | protein_coding | 7/19 | chr17 | TogoVar | ||||||
CEP95_chr17_64501977_64542946 | 64533110 | C | T | splice_region_variant others(1): Show |
LOW | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 1 | 248 | 0.0040 | 0 | c.184 others(6): Show |
CEP95 | ENSG00000258890.8 | transcript | ENST00000556440.7 | protein_coding | 15/19 | chr17 | TogoVar | ||||||
CEPT1_chr1_111135223_111190104 | 111183591 | A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(310): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006others(228): Show | 313 | 410 | 0.7634 | 0 | c.113 others(6): Show |
CEPT1 | ENSG00000134255.16 | transcript | ENST00000357172.9 | protein_coding | 8/8 | chr1 | TogoVar | ||||||
CERCAM_chr9_128415857_128442347 | 128424280 | C | T | splice_region_variant others(1): Show |
LOW | HG02451.hp1 NA21309.hp1 |
a0002 | a0002c0004a0002c0016 | a0002c0004t0002a0002c0016t0002 | a0002c0004t0002g0207a0002c0016t0002g0206 | 2 | 400 | 0.0050 | 0 | c.561 others(5): Show |
CERCAM | ENSG00000167123.20 | transcript | ENST00000372838.9 | protein_coding | 4/12 | chr9 | TogoVar | ||||||
CERKL_chr2_181531672_181662105 | 181549631 | T | C | splice_region_variant others(1): Show |
LOW | HG00408.hp2 HG00438.hp2 HG00558.hp2 others(63): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0007a0001c0001t0021a0001c0002t0005others(9): Show | a0001c0001t0007g0143a0001c0001t0021g0183a0001c0002t0005g0003others(61): Show | 66 | 298 | 0.2215 | 0 | c.895 others(5): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 6/12 | chr2 | TogoVar | ||||||
CERKL_chr2_181531672_181662105 | 181604082 | G | GA | splice_region_variant others(1): Show |
LOW | HG01081.hp1 HG02109.hp1 HG02922.hp1 others(3): Show |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0002a0002c0003t0007others(1): Show | a0002c0003t0001g0134a0002c0003t0002g0125a0002c0003t0007g0121others(3): Show | 6 | 298 | 0.0201 | 1 | c.239 others(6): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
CERK_chr22_46679410_46743252 | 46707987 | T | C | missense_variant others(1): Show |
MODERATE | HG01243.hp2 HG02895.hp2 HG03486.hp2 |
a0006a0007 | a0006c0016a0007c0022 | a0006c0016t0006a0006c0016t0013a0007c0022t0062 | a0006c0016t0006g0280a0006c0016t0013g0306a0007c0022t0062g0305 | 3 | 340 | 0.0088 | 0 | c.571 others(3): Show |
p.Ile others(6): Show |
CERK | ENSG00000100422.14 | transcript | ENST00000216264.13 | protein_coding | 6/13 | 675/4442 | 571/1614 | 191/537 | chr22 | TogoVar | ||
CERK_chr22_46679410_46743252 | 46712292 | C | T | splice_region_variant others(1): Show |
LOW | HG00323.hp2 HG00741.hp2 HG01168.hp1 others(6): Show |
a0001a0008 | a0001c0008a0001c0024a0001c0025others(3): Show | a0001c0008t0005a0001c0008t0006a0001c0008t0012others(5): Show | a0001c0008t0005g0151a0001c0008t0006g0273a0001c0008t0006g0277others(6): Show | 9 | 340 | 0.0265 | 0 | c.381 others(3): Show |
p.Thr others(6): Show |
CERK | ENSG00000100422.14 | transcript | ENST00000216264.13 | protein_coding | 4/13 | 485/4442 | 381/1614 | 127/537 | chr22 | TogoVar | ||
CERK_chr22_46679410_46743252 | 46720211 | G | T | splice_region_variant others(1): Show |
LOW | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0092 | 1 | 340 | 0.0029 | 0 | c.257 others(5): Show |
CERK | ENSG00000100422.14 | transcript | ENST00000216264.13 | protein_coding | 2/12 | chr22 | TogoVar | ||||||
CERK_chr22_46679410_46743252 | 46720896 | T | C | splice_region_variant others(1): Show |
LOW | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0321 | 1 | 340 | 0.0029 | 0 | c.256 others(5): Show |
CERK | ENSG00000100422.14 | transcript | ENST00000216264.13 | protein_coding | 2/12 | chr22 | TogoVar | ||||||
CERS1_chr19_18863545_18901158 | 18869398 | G | A | splice_region_variant others(1): Show |
LOW | HG03453.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0177 | 1 | 380 | 0.0026 | 0 | c.*59 others(6): Show |
CERS1 | ENSG00000223802.9 | transcript | ENST00000623882.4 | protein_coding | 7/7 | chr19 | TogoVar | ||||||
CERS2_chr1_150960186_150979835 | 150966865 | G | A | splice_region_variant others(1): Show |
LOW | NA18978.hp1 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0090 | 1 | 382 | 0.0026 | 0 | c.742 others(5): Show |
CERS2 | ENSG00000143418.20 | transcript | ENST00000368954.10 | protein_coding | 8/10 | chr1 | TogoVar | ||||||
CERS2_chr1_150960186_150979835 | 150967881 | G | T | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00323.hp1 HG00558.hp1 others(145): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0011others(2): Show | a0001c0001t0002g0001a0001c0001t0002g0004a0001c0001t0002g0005others(20): Show | 148 | 382 | 0.3874 | 0 | c.411 others(5): Show |
CERS2 | ENSG00000143418.20 | transcript | ENST00000368954.10 | protein_coding | 4/10 | chr1 | TogoVar | ||||||
CERS2_chr1_150960186_150979835 | 150967882 | C | T | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00323.hp1 HG00558.hp1 others(145): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0011others(2): Show | a0001c0001t0002g0001a0001c0001t0002g0004a0001c0001t0002g0005others(20): Show | 148 | 382 | 0.3874 | 0 | c.411 others(5): Show |
CERS2 | ENSG00000143418.20 | transcript | ENST00000368954.10 | protein_coding | 4/10 | chr1 | TogoVar | ||||||
CERS3_chr15_100395395_100533950 | 100472918 | G | A | splice_region_variant others(1): Show |
LOW | HG00323.hp2 HG00642.hp2 HG00735.hp2 others(13): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0013a0001c0003t0007a0001c0003t0010others(1): Show | a0001c0001t0013g0173a0001c0001t0013g0176a0001c0003t0007g0353others(13): Show | 16 | 362 | 0.0442 | 0 | c.738 others(5): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 9/11 | chr15 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8255594 | A | AC | splice_region_variant others(1): Show |
LOW | HG02135.hp1 HG03209.hp2 HG04204.hp2 others(2): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0001c0021others(2): Show | a0001c0001t0003a0001c0006t0006a0001c0021t0005others(2): Show | a0001c0001t0003g0161a0001c0006t0006g0266a0001c0021t0005g0189others(2): Show | 5 | 418 | 0.0120 | 1 | c.292 others(6): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CERS4_chr19_8204370_8267421 | 8256286 | G | A | splice_region_variant others(1): Show |
LOW | HG02258.hp2 | a0003 | a0003c0014 | a0003c0014t0001 | a0003c0014t0001g0406 | 1 | 418 | 0.0024 | 0 | c.519 others(3): Show |
p.Gln others(6): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 7/12 | 802/1780 | 519/1185 | 173/394 | chr19 | TogoVar | ||
CERS4_chr19_8204370_8267421 | 8257085 | C | T | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(117): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0021a0002c0023others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0002g0137a0001c0001t0002g0218a0001c0001t0002g0219others(117): Show | 120 | 418 | 0.2871 | 0 | c.741 others(5): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 9/11 | chr19 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168561187 | C | T | splice_region_variant others(1): Show |
LOW | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 176 | 0.0057 | 0 | c.277 others(5): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 2/9 | chr2 | TogoVar | ||||||
CERT1_chr5_75372775_75516629 | 75389695 | A | G | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00438.hp1 HG00544.hp2 others(165): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(9): Show | a0001c0001t0001g0036a0001c0001t0001g0310a0001c0001t0001g0311others(165): Show | 168 | 336 | 0.5000 | 0 | c.118 others(6): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 11/16 | chr5 | TogoVar | ||||||
CES1_chr16_55797851_55838096 | 55811012 | T | TA | splice_region_variant others(1): Show |
LOW | HG00438.hp1 HG00438.hp2 HG01256.hp2 others(15): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0002c0006others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0001g0011a0001c0001t0001g0016a0001c0001t0001g0018others(15): Show | 18 | 87 | 0.2069 | 1 | c.108 others(7): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 9/13 | chr16 | TogoVar | ||||||
CES1_chr16_55797851_55838096 | 55811014 | A | AC | splice_region_variant others(1): Show |
LOW | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(37): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0004a0001c0001t0001g0013a0001c0001t0001g0015others(35): Show | 40 | 87 | 0.4598 | 1 | c.108 others(14): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 9/13 | chr16 | TogoVar | ||||||
CES1_chr16_55797851_55838096 | 55811015 | A | C | splice_region_variant others(1): Show |
LOW | HG00597.hp2 NA18612.hp2 NA18953.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020a0001c0001t0001g0025a0001c0001t0001g0036others(1): Show | 4 | 87 | 0.0460 | 0 | c.108 others(6): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 9/13 | chr16 | TogoVar | ||||||
CES4A_chr16_66983589_67015417 | 66988834 | A | G | splice_region_variant others(1): Show |
LOW | HG01433.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0184 | 1 | 306 | 0.0033 | 0 | c.58+ others(4): Show |
CES4A | ENSG00000172824.17 | transcript | ENST00000648724.3 | protein_coding | 1/13 | chr16 | TogoVar | ||||||
CES5A_chr16_55841154_55880373 | 55846769 | C | T | missense_variant others(1): Show |
MODERATE | HG02257.hp1 HG02258.hp1 HG02717.hp1 others(2): Show |
a0019a0029a0032others(1): Show | a0019c0023a0029c0045a0032c0041others(1): Show | a0019c0023t0002a0029c0045t0002a0032c0041t0002others(1): Show | a0019c0023t0002g0219a0019c0023t0002g0304a0029c0045t0002g0298others(2): Show | 5 | 449 | 0.0111 | 0 | c.149 others(4): Show |
p.Gly others(6): Show |
CES5A | ENSG00000159398.16 | transcript | ENST00000290567.14 | protein_coding | 12/13 | 1647/2177 | 1495/1728 | 499/575 | chr16 | TogoVar | ||
CES5A_chr16_55841154_55880373 | 55861412 | C | G | missense_variant others(1): Show |
MODERATE | HG02630.hp1 HG02809.hp2 HG02886.hp1 others(2): Show |
a0007a0021 | a0007c0021a0021c0025 | a0007c0021t0001a0021c0025t0001 | a0007c0021t0001g0360a0007c0021t0001g0361a0007c0021t0001g0366others(2): Show | 5 | 449 | 0.0111 | 0 | c.915 others(3): Show |
p.Gln others(6): Show |
CES5A | ENSG00000159398.16 | transcript | ENST00000290567.14 | protein_coding | 7/13 | 1067/2177 | 915/1728 | 305/575 | chr16 | TogoVar | ||
CES5A_chr16_55841154_55880373 | 55863455 | G | A | splice_region_variant others(1): Show |
LOW | HG02615.hp1 HG02818.hp1 HG03098.hp2 |
a0013a0016 | a0013c0050a0016c0028 | a0013c0050t0002a0016c0028t0002a0016c0028t0004 | a0013c0050t0002g0291a0016c0028t0002g0358a0016c0028t0004g0129 | 3 | 449 | 0.0067 | 0 | c.706 others(5): Show |
CES5A | ENSG00000159398.16 | transcript | ENST00000290567.14 | protein_coding | 5/12 | chr16 | TogoVar | ||||||
CES5A_chr16_55841154_55880373 | 55874041 | C | A | splice_region_variant others(1): Show |
LOW | HG00609.hp2 | a0004 | a0004c0006 | a0004c0006t0005 | a0004c0006t0005g0183 | 1 | 449 | 0.0022 | 0 | c.74- others(4): Show |
CES5A | ENSG00000159398.16 | transcript | ENST00000290567.14 | protein_coding | 1/12 | chr16 | TogoVar | ||||||
CETN2_chrX_152821994_152835757 | 152829276 | AC | A | frameshift_variant others(1): Show |
HIGH | NA18982.hp1 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0022 | 1 | 321 | 0.0031 | -1 | c.163 others(4): Show |
p.Val others(4): Show |
CETN2 | ENSG00000147400.10 | transcript | ENST00000370277.5 | protein_coding | 3/5 | 210/1413 | 163/519 | 55/172 | chrX | TogoVar | ||
CETN2_chrX_152821994_152835757 | 152829284 | A | T | splice_region_variant others(1): Show |
LOW | HG02280.hp2 HG02886.hp2 HG03195.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0007 | 5 | 321 | 0.0156 | 0 | c.163 others(5): Show |
CETN2 | ENSG00000147400.10 | transcript | ENST00000370277.5 | protein_coding | 2/4 | chrX | TogoVar | ||||||
CETP_chr16_56956950_56988845 | 56971389 | C | T | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00323.hp1 HG00621.hp2 others(118): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0002c0006others(7): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(8): Show | a0001c0001t0001g0008a0001c0001t0001g0016a0001c0001t0001g0044others(83): Show | 121 | 462 | 0.2619 | 0 | c.658 others(5): Show |
CETP | ENSG00000087237.12 | transcript | ENST00000200676.8 | protein_coding | 7/15 | chr16 | TogoVar | ||||||
CETP_chr16_56956950_56988845 | 56978262 | C | T | splice_region_variant others(1): Show |
LOW | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 | 1 | 462 | 0.0022 | 0 | c.114 others(6): Show |
CETP | ENSG00000087237.12 | transcript | ENST00000200676.8 | protein_coding | 11/15 | chr16 | TogoVar | ||||||
CFAP100_chr3_126389909_126441556 | 126418613 | T | C | splice_region_variant others(1): Show |
LOW | HG01243.hp2 HG01255.hp2 HG02055.hp1 others(23): Show |
a0001a0014 | a0001c0003a0014c0020 | a0001c0003t0001a0014c0020t0001 | a0001c0003t0001g0001a0001c0003t0001g0003a0001c0003t0001g0009others(16): Show | 26 | 422 | 0.0616 | 0 | c.489 others(3): Show |
p.Tyr others(6): Show |
CFAP100 | ENSG00000163885.12 | transcript | ENST00000352312.6 | protein_coding | 7/17 | 618/2117 | 489/1836 | 163/611 | chr3 | TogoVar | ||
CFAP100_chr3_126389909_126441556 | 126423320 | C | T | splice_region_variant others(1): Show |
LOW | HG01070.hp1 HG01123.hp2 HG01175.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0061a0001c0002t0001g0137a0001c0002t0001g0245others(3): Show | 6 | 422 | 0.0142 | 0 | c.108 others(6): Show |
CFAP100 | ENSG00000163885.12 | transcript | ENST00000352312.6 | protein_coding | 11/16 | chr3 | TogoVar | ||||||
CFAP100_chr3_126389909_126441556 | 126435554 | C | A | splice_region_variant others(1): Show |
LOW | HG02523.hp1 HG02683.hp1 HG02698.hp1 others(21): Show |
a0001 | a0001c0002a0001c0016 | a0001c0002t0001a0001c0016t0001 | a0001c0002t0001g0083a0001c0002t0001g0087a0001c0002t0001g0096others(21): Show | 24 | 422 | 0.0569 | 0 | c.162 others(6): Show |
CFAP100 | ENSG00000163885.12 | transcript | ENST00000352312.6 | protein_coding | 15/16 | chr3 | TogoVar | ||||||
CFAP107_chr1_12741200_12768699 | 12745321 | CTTTCTCT others(1738): Show |
C | exon_loss_variant others(1): Show |
HIGH | HG02896.hp2 | a0008 | a0008c0010 | a0008c0010t0049 | a0008c0010t0049g0120 | 1 | 336 | 0.0030 | -1745 | c.-11 others(13): Show |
CFAP107 | ENSG00000157330.10 | transcript | ENST00000614859.5 | protein_coding | 1/4 | chr1 | TogoVar | ||||||
CFAP107_chr1_12741200_12768699 | 12755696 | C | G | splice_region_variant others(1): Show |
LOW | HG02559.hp2 HG02896.hp1 |
a0001 | a0001c0001 | a0001c0001t0047a0001c0001t0048 | a0001c0001t0047g0110a0001c0001t0048g0111 | 2 | 336 | 0.0060 | 0 | c.112 others(5): Show |
CFAP107 | ENSG00000157330.10 | transcript | ENST00000614859.5 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
CFAP107_chr1_12741200_12768699 | 12755700 | T | G | missense_variant others(1): Show |
MODERATE | HG00140.hp1 NA20129.hp1 |
a0006 | a0006c0006 | a0006c0006t0018 | a0006c0006t0018g0001 | 2 | 336 | 0.0060 | 0 | c.112 others(3): Show |
p.Phe others(5): Show |
CFAP107 | ENSG00000157330.10 | transcript | ENST00000614859.5 | protein_coding | 2/4 | 343/3564 | 112/585 | 38/194 | chr1 | TogoVar | ||
CFAP119_chr16_30752423_30767062 | 30757659 | A | G | splice_region_variant others(1): Show |
LOW | HG03491.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0025 | 1 | 266 | 0.0038 | 0 | c.818 others(5): Show |
CFAP119 | ENSG00000196118.12 | transcript | ENST00000543610.6 | protein_coding | 8/8 | chr16 | TogoVar | ||||||
CFAP119_chr16_30752423_30767062 | 30760674 | A | C | splice_region_variant others(1): Show |
LOW | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 266 | 0.0038 | 0 | c.237 others(5): Show |
CFAP119 | ENSG00000196118.12 | transcript | ENST00000543610.6 | protein_coding | 2/8 | chr16 | TogoVar | ||||||
CFAP144_chr1_43142904_43161396 | 43150755 | T | G | splice_region_variant others(1): Show |
LOW | HG01884.hp2 HG02055.hp2 HG02257.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0027a0001c0001t0001g0057others(2): Show | 10 | 396 | 0.0253 | 0 | c.134 others(5): Show |
CFAP144 | ENSG00000186973.11 | transcript | ENST00000335282.5 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
CFAP161_chr15_81129270_81154179 | 81135262 | C | T | splice_region_variant others(1): Show |
LOW | HG01243.hp1 HG01496.hp1 HG02145.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0006a0001c0001t0002g0071a0001c0001t0002g0074others(11): Show | 20 | 448 | 0.0446 | 0 | c.70- others(4): Show |
CFAP161 | ENSG00000156206.14 | transcript | ENST00000286732.5 | protein_coding | 1/6 | chr15 | TogoVar | ||||||
CFAP206_chr6_87402972_87469465 | 87464017 | T | C | splice_region_variant others(1): Show |
LOW | HG02145.hp2 NA20129.hp1 |
a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0256a0006c0010t0001g0257 | 2 | 376 | 0.0053 | 0 | c.163 others(6): Show |
CFAP206 | ENSG00000272514.6 | transcript | ENST00000369562.9 | protein_coding | 12/12 | chr6 | TogoVar | ||||||
CFAP210_chr2_169640425_169699405 | 169649174 | G | A | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(133): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0007a0001c0008others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0136a0001c0001t0001g0287a0001c0001t0001g0288others(127): Show | 136 | 390 | 0.3487 | 0 | c.131 others(6): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 8/8 | chr2 | TogoVar | ||||||
CFAP210_chr2_169640425_169699405 | 169654222 | G | T | splice_region_variant others(1): Show |
LOW | HG02145.hp1 HG02615.hp2 HG02723.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0096a0001c0001t0002g0097a0001c0001t0002g0098others(3): Show | 6 | 390 | 0.0154 | 0 | c.820 others(5): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 5/8 | chr2 | TogoVar | ||||||
CFAP221_chr2_119539449_119661661 | 119608481 | G | GT | splice_region_variant others(1): Show |
LOW | HG00438.hp1 HG00438.hp2 HG00544.hp1 others(212): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0006a0001c0007others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(19): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0012others(211): Show | 215 | 226 | 0.9513 | 1 | c.113 others(7): Show |
CFAP221 | ENSG00000163075.13 | transcript | ENST00000413369.8 | protein_coding | 11/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |