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 | 113423105 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00621.hp2 HG00639.hp2 HG00738.hp1 others(52): Show |
a0003a0006a0007others(4): Show | a0003c0003a0003c0007a0003c0019others(6): Show | a0003c0003t0003a0003c0003t0004a0003c0003t0011others(18): Show | a0003c0003t0003g0004a0003c0003t0003g0123a0003c0003t0003g0125others(50): Show | 55 | 348 | 0.1581 | -8 | c.408 others(25): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 4/34 | chr3 | TogoVar | ||||||
CFAP44_chr3_113281930_113446493 | 113435858 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG00597.hp2 others(25): Show |
a0003a0004a0013others(1): Show | a0003c0007a0004c0004a0004c0043others(2): Show | a0003c0007t0002a0004c0004t0004a0004c0004t0006others(8): Show | a0003c0007t0002g0284a0003c0007t0002g0285a0004c0004t0004g0305others(25): Show | 28 | 348 | 0.0805 | -8 | c.-5- others(23): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 1/34 | chr3 | TogoVar | ||||||
CFAP45_chr1_159867364_159905165 | 159873827 | CTCCTTCC others(1): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01261.hp2 HG01934.hp1 others(39): Show |
a0002a0004a0015others(1): Show | a0002c0003a0004c0005a0015c0017others(1): Show | a0002c0003t0001a0004c0005t0001a0015c0017t0001others(1): Show | a0002c0003t0001g0005a0002c0003t0001g0018a0002c0003t0001g0029others(23): Show | 42 | 410 | 0.1024 | -8 | c.135 others(25): Show |
CFAP45 | ENSG00000213085.10 | transcript | ENST00000368099.9 | protein_coding | 10/11 | chr1 | TogoVar | ||||||
CFAP45_chr1_159867364_159905165 | 159883623 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(282): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0019a0002c0003others(10): Show | a0001c0001t0001a0001c0019t0001a0002c0003t0001others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(183): Show | 285 | 410 | 0.6951 | -8 | c.897 others(23): Show |
CFAP45 | ENSG00000213085.10 | transcript | ENST00000368099.9 | protein_coding | 7/11 | chr1 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132824002 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00544.hp1 others(7): Show |
a0011a0019a0035others(3): Show | a0011c0010a0019c0020a0035c0057others(3): Show | a0011c0010t0001a0019c0020t0001a0035c0057t0001others(3): Show | a0011c0010t0001g0197a0011c0010t0001g0198a0011c0010t0001g0202others(7): Show | 10 | 246 | 0.0407 | -8 | c.711 others(27): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132912118 | ACCCCCAC others(1): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG04228.hp1 NA18940.hp2 others(3): Show |
a0011a0052a0053 | a0011c0010a0052c0067a0053c0068 | a0011c0010t0001a0052c0067t0002a0053c0068t0002 | a0011c0010t0001g0197a0011c0010t0001g0198a0011c0010t0001g0202others(3): Show | 6 | 246 | 0.0244 | -8 | c.249 others(25): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 19/57 | chr10 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132912604 | CCTCTCTC others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00544.hp1 others(13): Show |
a0004a0011a0033others(3): Show | a0004c0005a0011c0010a0033c0048others(3): Show | a0004c0005t0001a0004c0005t0002a0011c0010t0001others(4): Show | a0004c0005t0001g0220a0004c0005t0001g0221a0004c0005t0001g0222others(13): Show | 16 | 246 | 0.0650 | -8 | c.249 others(23): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 19/57 | chr10 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132942905 | CTCATTCA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00408.hp2 HG02145.hp2 HG02165.hp1 others(3): Show |
a0001a0005a0010 | a0001c0032a0005c0013a0005c0047others(1): Show | a0001c0032t0002a0005c0013t0001a0005c0047t0001others(1): Show | a0001c0032t0002g0038a0001c0032t0002g0040a0005c0013t0001g0217others(3): Show | 6 | 246 | 0.0244 | -8 | c.-42 others(17): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 336 | chr10 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132946761 | CCCCAGCA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG01099.hp1 HG01123.hp1 HG01123.hp2 |
a0002a0046a0047 | a0002c0002a0046c0064a0047c0035 | a0002c0002t0001a0046c0064t0001a0047c0035t0001 | a0002c0002t0001g0207a0046c0064t0001g0214a0047c0035t0001g0161 | 3 | 246 | 0.0122 | -8 | c.-42 others(19): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 4192 | chr10 | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 35923901 | ATGTACAT others(1): Show |
A | intron_variant | MODIFIER | HG06807.hp2 | a0003 | a0003c0074 | a0003c0074t0001 | a0003c0074t0001g0139 | 1 | 216 | 0.0046 | -8 | c.250 others(25): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 1/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 35924522 | TATATGCA others(1): Show |
T | intron_variant | MODIFIER | HG01255.hp1 | a0049 | a0049c0058 | a0049c0058t0001 | a0049c0058t0001g0207 | 1 | 216 | 0.0046 | -8 | c.250 others(25): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 1/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 35924549 | GTGTATAT others(1): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02615.hp1 others(9): Show |
a0005a0010a0011others(3): Show | a0005c0015a0010c0007a0011c0054others(4): Show | a0005c0015t0001a0010c0007t0001a0011c0054t0001others(4): Show | a0005c0015t0001g0199a0010c0007t0001g0194a0010c0007t0001g0195others(9): Show | 12 | 216 | 0.0556 | -8 | c.250 others(25): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 1/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 35962926 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG01346.hp2 HG06807.hp1 NA20752.hp1 others(1): Show |
a0006a0009a0017others(1): Show | a0006c0008a0009c0065a0017c0020others(1): Show | a0006c0008t0001a0009c0065t0001a0017c0020t0001others(1): Show | a0006c0008t0001g0188a0009c0065t0001g0173a0017c0020t0001g0211others(1): Show | 4 | 216 | 0.0185 | -8 | c.141 others(27): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 8/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36016701 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG01255.hp1 HG01891.hp2 HG02055.hp1 others(22): Show |
a0005a0010a0012others(7): Show | a0005c0005a0005c0015a0010c0007others(9): Show | a0005c0005t0001a0005c0015t0001a0010c0007t0001others(9): Show | a0005c0005t0001g0006a0005c0005t0001g0008a0005c0005t0001g0009others(22): Show | 25 | 216 | 0.1157 | -8 | c.355 others(27): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 22/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36077183 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG02647.hp1 HG02723.hp1 HG02922.hp1 others(3): Show |
a0005a0006a0012others(1): Show | a0005c0005a0005c0015a0006c0048others(2): Show | a0005c0005t0001a0005c0015t0001a0006c0048t0001others(2): Show | a0005c0005t0001g0008a0005c0015t0001g0131a0006c0048t0001g0001others(3): Show | 6 | 216 | 0.0278 | -8 | c.469 others(27): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 29/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36145069 | ATATATGC others(1): Show |
A | intron_variant | MODIFIER | HG02735.hp1 HG03239.hp1 |
a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0022a0006c0008t0001g0023 | 2 | 216 | 0.0093 | -8 | c.553 others(25): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 35/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36148901 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG02273.hp2 | a0013 | a0013c0011 | a0013c0011t0001 | a0013c0011t0001g0169 | 1 | 216 | 0.0046 | -8 | c.567 others(25): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 36/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36243647 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG00673.hp1 HG02258.hp1 HG02615.hp1 others(9): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0074others(4): Show | a0001c0001t0001a0002c0002t0001a0003c0074t0001others(4): Show | a0001c0001t0001g0047a0001c0001t0001g0072a0001c0001t0001g0075others(9): Show | 12 | 216 | 0.0556 | -8 | c.733 others(27): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 48/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36272339 | GCATTTAG others(1): Show |
G | intron_variant | MODIFIER | HG01346.hp2 HG02257.hp2 HG02735.hp1 others(2): Show |
a0006a0011a0024 | a0006c0008a0011c0049a0011c0054others(1): Show | a0006c0008t0001a0011c0049t0001a0011c0054t0001others(1): Show | a0006c0008t0001g0022a0006c0008t0001g0023a0011c0049t0001g0184others(2): Show | 5 | 216 | 0.0232 | -8 | c.744 others(27): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 49/63 | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 36336244 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG01192.hp1 HG01257.hp1 HG01258.hp1 others(14): Show |
a0001a0003a0005others(7): Show | a0001c0001a0001c0071a0003c0004others(10): Show | a0001c0001t0001a0001c0071t0001a0003c0004t0001others(10): Show | a0001c0001t0001g0024a0001c0001t0001g0120a0001c0001t0001g0121others(14): Show | 17 | 216 | 0.0787 | -8 | c.844 others(29): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 57/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36343717 | AAGAACAG others(1): Show |
A | intron_variant | MODIFIER | NA18953.hp1 | a0023 | a0023c0024 | a0023c0024t0001 | a0023c0024t0001g0113 | 1 | 216 | 0.0046 | -8 | c.844 others(27): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 57/63 | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 36364438 | TAATAAAT others(1): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02109.hp1 others(34): Show |
a0002a0005a0006others(11): Show | a0002c0002a0005c0005a0005c0015others(21): Show | a0002c0002t0001a0005c0005t0001a0005c0015t0001others(21): Show | a0002c0002t0001g0153a0005c0005t0001g0006a0005c0005t0001g0008others(34): Show | 37 | 216 | 0.1713 | -8 | c.902 others(27): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 61/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36364901 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG02257.hp2 HG02572.hp1 others(4): Show |
a0001a0009a0011others(2): Show | a0001c0001a0009c0012a0011c0030others(4): Show | a0001c0001t0001a0009c0012t0001a0011c0030t0001others(4): Show | a0001c0001t0001g0104a0009c0012t0001g0143a0011c0030t0001g0185others(4): Show | 7 | 216 | 0.0324 | -8 | c.902 others(27): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 61/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36371851 | TATGTGTG others(1): Show |
T | intron_variant | MODIFIER | NA19043.hp1 NA20300.hp2 |
a0006a0017 | a0006c0028a0017c0020 | a0006c0028t0001a0017c0020t0001 | a0006c0028t0001g0186a0017c0020t0001g0212 | 2 | 216 | 0.0093 | -8 | c.918 others(27): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 62/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36371916 | ATATATGT others(1): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00621.hp1 others(59): Show |
a0002a0003a0005others(16): Show | a0002c0002a0002c0013a0002c0067others(25): Show | a0002c0002t0001a0002c0013t0001a0002c0067t0001others(25): Show | a0002c0002t0001g0150a0002c0002t0001g0151a0002c0002t0001g0152others(59): Show | 62 | 216 | 0.2870 | -8 | c.918 others(27): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 62/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP52_chr17_9571642_9648447 | 9596057 | GTGTATAT others(1): Show |
G | intron_variant | MODIFIER | HG02083.hp1 HG02132.hp2 HG02148.hp2 others(10): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0001c0002t0002a0002c0001t0001 | a0001c0002t0001g0083a0001c0002t0001g0111a0001c0002t0001g0122others(10): Show | 13 | 316 | 0.0411 | -8 | c.536 others(25): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CFAP52_chr17_9571642_9648447 | 9596059 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02015.hp2 HG02080.hp2 others(18): Show |
a0001a0002a0003 | a0001c0002a0002c0001a0003c0003 | a0001c0002t0001a0002c0001t0001a0002c0001t0002others(1): Show | a0001c0002t0001g0127a0001c0002t0001g0155a0001c0002t0001g0262others(18): Show | 21 | 316 | 0.0665 | -8 | c.536 others(25): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CFAP52_chr17_9571642_9648447 | 9604750 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01257.hp1 HG01257.hp2 others(17): Show |
a0001a0002 | a0001c0002a0001c0005a0002c0001 | a0001c0002t0001a0001c0005t0001a0002c0001t0001others(2): Show | a0001c0002t0001g0016a0001c0002t0001g0031a0001c0002t0001g0044others(17): Show | 20 | 316 | 0.0633 | -8 | c.754 others(25): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CFAP52_chr17_9571642_9648447 | 9613502 | TTTTGTTT others(1): Show |
T | intron_variant | MODIFIER | HG01168.hp1 HG01255.hp2 HG02280.hp1 others(3): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001 | a0001c0002t0001g0008a0001c0002t0001g0066a0001c0002t0001g0184others(3): Show | 6 | 316 | 0.0190 | -8 | c.102 others(27): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CFAP52_chr17_9571642_9648447 | 9636179 | AAAAGAAA others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG01109.hp1 HG01258.hp2 others(8): Show |
a0002 | a0002c0001 | a0002c0001t0002a0002c0001t0003 | a0002c0001t0002g0005a0002c0001t0002g0057a0002c0001t0002g0060others(8): Show | 11 | 316 | 0.0348 | -8 | c.147 others(25): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CFAP52_chr17_9571642_9648447 | 9636245 | AAGAAAGA others(1): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00673.hp2 HG01099.hp2 others(22): Show |
a0001a0002a0009 | a0001c0002a0002c0001a0009c0015 | a0001c0002t0001a0002c0001t0001a0009c0015t0001 | a0001c0002t0001g0063a0001c0002t0001g0070a0001c0002t0001g0105others(22): Show | 25 | 316 | 0.0791 | -8 | c.147 others(25): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96484863 | GTTTTTTT others(1): Show |
G | upstream_gene_variant | MODIFIER | HG02622.hp1 HG02895.hp1 HG03098.hp2 others(5): Show |
a0004a0014a0040others(2): Show | a0004c0081a0004c0082a0014c0014others(3): Show | a0004c0081t0001a0004c0082t0001a0014c0014t0001others(3): Show | a0004c0081t0001g0128a0004c0082t0001g0167a0014c0014t0001g0161others(5): Show | 8 | 268 | 0.0299 | -8 | c.-47 others(19): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 4713 | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96486137 | TTTTCTTT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG01192.hp2 HG01243.hp1 HG01256.hp1 others(13): Show |
a0001a0003a0004others(7): Show | a0001c0001a0001c0012a0003c0002others(9): Show | a0001c0001t0001a0001c0012t0001a0003c0002t0001others(9): Show | a0001c0001t0001g0080a0001c0001t0001g0082a0001c0012t0001g0034others(13): Show | 16 | 268 | 0.0597 | -8 | c.-34 others(19): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 3439 | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96486932 | ATTATTTA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG01175.hp1 HG02976.hp1 |
a0007a0012 | a0007c0019a0012c0097 | a0007c0019t0001a0012c0097t0001 | a0007c0019t0001g0268a0012c0097t0001g0196 | 2 | 268 | 0.0075 | -8 | c.-26 others(19): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 2644 | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96495238 | CTCCTTCC others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00621.hp1 HG01099.hp2 others(25): Show |
a0001a0002a0003others(13): Show | a0001c0001a0002c0003a0002c0007others(16): Show | a0001c0001t0001a0002c0003t0001a0002c0007t0001others(16): Show | a0001c0001t0001g0035a0002c0003t0001g0122a0002c0007t0001g0124others(25): Show | 28 | 268 | 0.1045 | -8 | c.317 others(25): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 1/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96512299 | TTTTATAT others(1): Show |
T | intron_variant | MODIFIER | HG01358.hp1 HG01975.hp2 HG02922.hp1 |
a0005a0054 | a0005c0004a0054c0034 | a0005c0004t0001a0054c0034t0001 | a0005c0004t0001g0012a0005c0004t0001g0013a0054c0034t0001g0006 | 3 | 268 | 0.0112 | -8 | c.740 others(23): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 4/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96521541 | TGTGTGTG others(1): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00423.hp1 others(88): Show |
a0001a0002a0003others(21): Show | a0001c0086a0002c0003a0002c0007others(29): Show | a0001c0086t0001a0002c0003t0001a0002c0003t0002others(31): Show | a0001c0086t0001g0148a0002c0003t0001g0121a0002c0003t0001g0122others(88): Show | 91 | 268 | 0.3396 | -8 | c.943 others(23): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 6/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96535008 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01243.hp2 HG02970.hp2 |
a0003a0013a0059 | a0003c0073a0013c0018a0059c0060 | a0003c0073t0001a0013c0018t0001a0059c0060t0001 | a0003c0073t0001g0214a0013c0018t0001g0257a0059c0060t0001g0005 | 3 | 268 | 0.0112 | -8 | c.170 others(25): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 11/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96561704 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG02145.hp1 HG02559.hp2 others(4): Show |
a0002a0003a0004others(4): Show | a0002c0007a0003c0002a0004c0005others(4): Show | a0002c0007t0001a0003c0002t0001a0004c0005t0001others(4): Show | a0002c0007t0001g0149a0003c0002t0001g0267a0004c0005t0001g0103others(4): Show | 7 | 268 | 0.0261 | -8 | c.241 others(27): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 17/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96638237 | GTGTGTAT others(1): Show |
G | intron_variant | MODIFIER | HG02970.hp1 HG03130.hp1 HG03516.hp2 |
a0004a0026 | a0004c0005a0026c0025 | a0004c0005t0001a0026c0025t0001 | a0004c0005t0001g0231a0026c0025t0001g0002a0026c0025t0001g0003 | 3 | 268 | 0.0112 | -8 | c.431 others(27): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 32/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96643397 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(263): Show |
a0001a0002a0003others(60): Show | a0001c0001a0001c0012a0001c0047others(95): Show | a0001c0001t0001a0001c0012t0001a0001c0047t0001others(98): Show | a0001c0001t0001g0004a0001c0001t0001g0018a0001c0001t0001g0021others(263): Show | 266 | 268 | 0.9925 | -8 | c.431 others(25): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 32/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96704452 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG00673.hp1 HG01099.hp2 HG01168.hp2 others(29): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0012a0003c0002others(9): Show | a0001c0001t0001a0001c0012t0001a0003c0002t0001others(9): Show | a0001c0001t0001g0032a0001c0001t0001g0074a0001c0001t0001g0080others(29): Show | 32 | 268 | 0.1194 | -8 | c.647 others(25): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 46/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96806159 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02109.hp1 HG02258.hp1 others(12): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0003a0003c0002others(8): Show | a0001c0001t0001a0002c0003t0001a0002c0003t0002others(9): Show | a0001c0001t0001g0080a0002c0003t0001g0168a0002c0003t0002g0172others(12): Show | 15 | 268 | 0.0560 | -8 | c.885 others(27): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 63/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96806207 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02451.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084a0001c0001t0001g0087a0001c0001t0001g0088 | 3 | 268 | 0.0112 | -8 | c.885 others(27): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 63/67 | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96834727 | CTCCTTCT others(1): Show |
C | intron_variant | MODIFIER | HG02976.hp2 HG03209.hp2 HG03486.hp1 |
a0023a0039 | a0023c0026a0039c0039 | a0023c0026t0001a0039c0039t0001 | a0023c0026t0001g0031a0023c0026t0001g0047a0039c0039t0001g0040 | 3 | 268 | 0.0112 | -8 | c.917 others(27): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 66/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96863153 | TTGGATGG others(1): Show |
T | intron_variant | MODIFIER | HG01978.hp2 HG02451.hp1 HG02630.hp1 |
a0003a0019a0030 | a0003c0002a0019c0023a0030c0064 | a0003c0002t0001a0019c0023t0001a0030c0064t0001 | a0003c0002t0001g0239a0019c0023t0001g0039a0030c0064t0001g0209 | 3 | 268 | 0.0112 | -8 | c.*14 others(25): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 67/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96874619 | TTATTTTT others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00597.hp1 others(13): Show |
a0002a0003a0004others(4): Show | a0002c0003a0003c0002a0003c0016others(6): Show | a0002c0003t0001a0003c0002t0001a0003c0016t0001others(6): Show | a0002c0003t0001g0133a0002c0003t0001g0143a0002c0003t0001g0155others(13): Show | 16 | 268 | 0.0597 | -8 | c.*15 others(23): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 67/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP57_chr1_43167330_43259358 | 43239232 | GTGAATGA others(1): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp2 others(101): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0015a0001c0024others(19): Show | a0001c0001t0001a0001c0015t0001a0001c0024t0001others(20): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0010others(98): Show | 104 | 308 | 0.3377 | -8 | c.340 others(27): Show |
CFAP57 | ENSG00000243710.8 | transcript | ENST00000372492.9 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFAP58_chr10_104348833_104460102 | 104357968 | CACATATG others(1): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02451.hp1 HG02922.hp1 others(3): Show |
a0001a0003a0010 | a0001c0001a0001c0004a0001c0007others(2): Show | a0001c0001t0001a0001c0004t0001a0001c0007t0001others(2): Show | a0001c0001t0001g0300a0001c0004t0001g0301a0001c0007t0001g0240others(3): Show | 6 | 308 | 0.0195 | -8 | c.10- others(21): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CFAP58_chr10_104348833_104460102 | 104358022 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00609.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0207a0002c0002t0001g0104a0002c0002t0001g0203others(4): Show | 7 | 308 | 0.0227 | -8 | c.10- others(21): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |