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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFAP43_chr10_104124888_104237364 | 104157775 | T | TGAGAGAG others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01123.hp2 NA20752.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0234a0001c0003t0001g0108a0001c0003t0001g0109 | 3 | 306 | 0.0098 | 8 | c.354 others(27): Show |
CFAP43 | ENSG00000197748.13 | transcript | ENST00000357060.8 | protein_coding | 27/37 | chr10 | TogoVar | ||||||
CFAP43_chr10_104124888_104237364 | 104191313 | A | AACTCTTC others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00597.hp2 HG01069.hp1 others(30): Show |
a0001a0004a0006others(1): Show | a0001c0001a0004c0005a0006c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0004c0005t0001others(2): Show | a0001c0001t0001g0063a0001c0001t0001g0234a0001c0001t0001g0258others(30): Show | 33 | 306 | 0.1078 | 8 | c.154 others(25): Show |
CFAP43 | ENSG00000197748.13 | transcript | ENST00000357060.8 | protein_coding | 12/37 | chr10 | TogoVar | ||||||
CFAP43_chr10_104124888_104237364 | 104204321 | C | CGGGTTGG others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00609.hp2 HG01069.hp2 others(33): Show |
a0001a0002a0013 | a0001c0001a0002c0002a0002c0011others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0011t0001others(2): Show | a0001c0001t0001g0091a0002c0002t0001g0002a0002c0002t0001g0070others(32): Show | 36 | 306 | 0.1177 | 8 | c.964 others(23): Show |
CFAP43 | ENSG00000197748.13 | transcript | ENST00000357060.8 | protein_coding | 7/37 | chr10 | TogoVar | ||||||
CFAP43_chr10_104124888_104237364 | 104215136 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01109.hp2 HG01346.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0019others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0019t0001others(1): Show | a0001c0001t0001g0120a0001c0001t0001g0243a0001c0001t0001g0265others(5): Show | 8 | 306 | 0.0261 | 8 | c.417 others(23): Show |
CFAP43 | ENSG00000197748.13 | transcript | ENST00000357060.8 | protein_coding | 3/37 | chr10 | TogoVar | ||||||
CFAP44_chr3_113281930_113446493 | 113353453 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00738.hp2 NA18946.hp2 others(8): Show |
a0001a0004a0005 | a0001c0001a0001c0008a0004c0004others(1): Show | a0001c0001t0001a0001c0008t0001a0004c0004t0007others(4): Show | a0001c0001t0001g0179a0001c0008t0001g0205a0004c0004t0007g0293others(8): Show | 11 | 348 | 0.0316 | 8 | c.306 others(27): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 22/34 | chr3 | TogoVar | ||||||
CFAP44_chr3_113281930_113446493 | 113374363 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00597.hp1 others(77): Show |
a0002a0003a0007others(9): Show | a0002c0002a0003c0007a0007c0009others(9): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0004others(24): Show | a0002c0002t0002g0034a0002c0002t0002g0035a0002c0002t0002g0039others(76): Show | 80 | 348 | 0.2299 | 8 | c.229 others(25): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 17/34 | chr3 | TogoVar | ||||||
CFAP44_chr3_113281930_113446493 | 113418057 | A | AATTTATT others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG00597.hp2 others(55): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0003c0007others(8): Show | a0001c0001t0009a0001c0001t0038a0001c0001t0039others(23): Show | a0001c0001t0009g0330a0001c0001t0009g0332a0001c0001t0009g0333others(54): Show | 58 | 348 | 0.1667 | 8 | c.571 others(25): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 5/34 | chr3 | TogoVar | ||||||
CFAP45_chr1_159867364_159905165 | 159877875 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(189): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0019others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0012others(126): Show | 192 | 410 | 0.4683 | 8 | c.104 others(25): Show |
CFAP45 | ENSG00000213085.10 | transcript | ENST00000368099.9 | protein_coding | 8/11 | chr1 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132820666 | G | GAGTGCTG others(1): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02572.hp2 HG02615.hp1 others(2): Show |
a0010 | a0010c0011a0010c0072 | a0010c0011t0001a0010c0072t0002 | a0010c0011t0001g0130a0010c0011t0001g0240a0010c0011t0001g0241others(2): Show | 5 | 246 | 0.0203 | 8 | c.711 others(27): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132821244 | G | GTGCGGTG others(1): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02145.hp2 HG02258.hp1 others(5): Show |
a0002a0005a0010 | a0002c0003a0005c0013a0010c0011others(1): Show | a0002c0003t0001a0005c0013t0001a0010c0011t0001others(1): Show | a0002c0003t0001g0140a0005c0013t0001g0217a0005c0013t0001g0218others(5): Show | 8 | 246 | 0.0325 | 8 | c.711 others(27): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132831220 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01952.hp1 HG02145.hp2 HG02258.hp1 others(4): Show |
a0004a0005a0010 | a0004c0005a0005c0013a0010c0011others(1): Show | a0004c0005t0001a0005c0013t0001a0010c0011t0001others(1): Show | a0004c0005t0001g0220a0005c0013t0001g0217a0005c0013t0001g0218others(4): Show | 7 | 246 | 0.0285 | 8 | c.711 others(27): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132942905 | C | CTCATTCA others(1): Show |
upstream_gene_variant | MODIFIER | HG02717.hp2 HG02886.hp2 HG03486.hp2 others(3): Show |
a0002a0003a0008others(3): Show | a0002c0003a0003c0080a0008c0009others(3): Show | a0002c0003t0001a0003c0080t0002a0008c0009t0001others(3): Show | a0002c0003t0001g0192a0003c0080t0002g0074a0008c0009t0001g0120others(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 | 132946897 | T | TCCCAGCA others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(109): Show |
a0002a0004a0005others(32): Show | a0002c0002a0002c0003a0002c0023others(49): Show | a0002c0002t0001a0002c0003t0001a0002c0023t0001others(49): Show | a0002c0002t0001g0126a0002c0002t0001g0141a0002c0002t0001g0159others(109): Show | 112 | 246 | 0.4553 | 8 | c.-44 others(19): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 4328 | chr10 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132946955 | C | CCAGCATC others(1): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00733.hp1 HG01069.hp2 others(11): Show |
a0002a0010a0012others(7): Show | a0002c0002a0010c0072a0012c0025others(8): Show | a0002c0002t0001a0010c0072t0002a0012c0025t0002others(8): Show | a0002c0002t0001g0163a0002c0002t0001g0189a0010c0072t0002g0004others(11): Show | 14 | 246 | 0.0569 | 8 | c.-44 others(19): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 4386 | chr10 | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 35919048 | T | TTGTGTGT others(1): Show |
upstream_gene_variant | MODIFIER | HG02976.hp1 | a0021 | a0021c0021 | a0021c0021t0001 | a0021c0021t0001g0209 | 1 | 216 | 0.0046 | 8 | c.-75 others(17): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 685 | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 35923960 | C | CATATGTG others(1): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0017 | a0017c0020 | a0017c0020t0001 | a0017c0020t0001g0211 | 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 | 35924011 | A | ATATATGT others(1): Show |
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 | 35924023 | A | ATATATGT others(1): Show |
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 | 35924088 | T | TGTGTATA others(1): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0014 | a0014c0016 | a0014c0016t0001 | a0014c0016t0001g0200 | 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 | 35924089 | G | GTGTATAT others(1): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02615.hp2 HG02895.hp1 others(3): Show |
a0005a0010 | a0005c0015a0010c0007 | a0005c0015t0001a0010c0007t0001 | a0005c0015t0001g0199a0010c0007t0001g0194a0010c0007t0001g0195others(3): Show | 6 | 216 | 0.0278 | 8 | c.250 others(25): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 1/63 | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 35924097 | A | ATGCACAC others(1): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0053 | a0053c0061 | a0053c0061t0002 | a0053c0061t0002g0214 | 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 | 35924148 | T | TGTGTATA others(1): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02615.hp2 HG02895.hp1 others(3): Show |
a0005a0010 | a0005c0015a0010c0007 | a0005c0015t0001a0010c0007t0001 | a0005c0015t0001g0199a0010c0007t0001g0194a0010c0007t0001g0195others(3): Show | 6 | 216 | 0.0278 | 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 | 35924178 | T | TGTGTATA others(1): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02615.hp2 HG02895.hp1 others(3): Show |
a0005a0010 | a0005c0015a0010c0007 | a0005c0015t0001a0010c0007t0001 | a0005c0015t0001g0199a0010c0007t0001g0194a0010c0007t0001g0195others(3): Show | 6 | 216 | 0.0278 | 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 | 35924182 | T | TATAGGTG others(1): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02717.hp1 HG02809.hp2 others(4): Show |
a0007a0011a0017others(2): Show | a0007c0077a0011c0076a0017c0020others(3): Show | a0007c0077t0001a0011c0076t0001a0017c0020t0001others(3): Show | a0007c0077t0001g0140a0011c0076t0001g0141a0017c0020t0001g0212others(4): Show | 7 | 216 | 0.0324 | 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 | 35924187 | G | GTGTACAC others(1): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0053 | a0053c0061 | a0053c0061t0002 | a0053c0061t0002g0214 | 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 | 35924211 | G | GTGTACAT others(1): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02717.hp1 HG02809.hp2 others(4): Show |
a0007a0011a0017others(2): Show | a0007c0077a0011c0076a0017c0020others(3): Show | a0007c0077t0001a0011c0076t0001a0017c0020t0001others(3): Show | a0007c0077t0001g0140a0011c0076t0001g0141a0017c0020t0001g0212others(4): Show | 7 | 216 | 0.0324 | 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 | 35924212 | T | TGTATAGG others(1): Show |
intron_variant | MODIFIER | HG01255.hp1 NA21309.hp2 |
a0017a0049 | a0017c0020a0049c0058 | a0017c0020t0001a0049c0058t0001 | a0017c0020t0001g0211a0049c0058t0001g0207 | 2 | 216 | 0.0093 | 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 | 35924219 | G | GTGTACAC others(1): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03225.hp1 NA20129.hp1 |
a0051a0052a0053 | a0051c0059a0052c0060a0053c0061 | a0051c0059t0001a0052c0060t0001a0053c0061t0002 | a0051c0059t0001g0215a0052c0060t0001g0208a0053c0061t0002g0214 | 3 | 216 | 0.0139 | 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 | 35924219 | G | GTGTACGC others(1): Show |
intron_variant | MODIFIER | HG02886.hp2 HG03041.hp1 |
a0011a0014 | a0011c0054a0014c0016 | a0011c0054t0001a0014c0016t0001 | a0011c0054t0001g0201a0014c0016t0001g0193 | 2 | 216 | 0.0093 | 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 | 35924270 | T | TATGTGCA others(1): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03225.hp1 NA20129.hp1 |
a0051a0052a0053 | a0051c0059a0052c0060a0053c0061 | a0051c0059t0001a0052c0060t0001a0053c0061t0002 | a0051c0059t0001g0215a0052c0060t0001g0208a0053c0061t0002g0214 | 3 | 216 | 0.0139 | 8 | c.250 others(25): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 1/63 | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 35924271 | G | GTGTACAC others(1): Show |
intron_variant | MODIFIER | HG01255.hp1 NA21309.hp2 |
a0017a0049 | a0017c0020a0049c0058 | a0017c0020t0001a0049c0058t0001 | a0017c0020t0001g0211a0049c0058t0001g0207 | 2 | 216 | 0.0093 | 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 | 35924392 | T | TATATGTG others(1): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0017 | a0017c0020 | a0017c0020t0001 | a0017c0020t0001g0211 | 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 | 35927596 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01255.hp1 NA18522.hp1 NA20300.hp2 others(1): Show |
a0011a0017a0049 | a0011c0076a0017c0020a0049c0058 | a0011c0076t0001a0017c0020t0001a0049c0058t0001 | a0011c0076t0001g0141a0017c0020t0001g0211a0017c0020t0001g0212others(1): Show | 4 | 216 | 0.0185 | 8 | c.401 others(25): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 2/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 35949140 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01884.hp2 HG02071.hp1 others(22): Show |
a0002a0005a0006others(13): Show | a0002c0013a0002c0067a0005c0005others(17): Show | a0002c0013t0001a0002c0067t0001a0005c0005t0001others(17): Show | a0002c0013t0001g0127a0002c0067t0001g0161a0005c0005t0001g0006others(22): Show | 25 | 216 | 0.1157 | 8 | c.656 others(23): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 4/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 35959878 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0026 | a0026c0069 | a0026c0069t0001 | a0026c0069t0001g0147 | 1 | 216 | 0.0046 | 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 | 35960380 | G | GAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00673.hp1 NA18954.hp2 NA18962.hp1 others(4): Show |
a0002a0009a0012 | a0002c0002a0002c0013a0009c0012others(1): Show | a0002c0002t0001a0002c0013t0001a0009c0012t0001others(1): Show | a0002c0002t0001g0150a0002c0002t0001g0157a0002c0002t0001g0158others(4): Show | 7 | 216 | 0.0324 | 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 | 36049488 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | NA18977.hp1 NA19060.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0115a0003c0004t0001g0125 | 2 | 216 | 0.0093 | 8 | c.421 others(27): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 26/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36075201 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | NA18959.hp1 NA19082.hp1 |
a0004a0025 | a0004c0003a0025c0066 | a0004c0003t0001a0025c0066t0001 | a0004c0003t0001g0037a0025c0066t0001g0170 | 2 | 216 | 0.0093 | 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 | 36148897 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0032 | a0032c0035 | a0032c0035t0001 | a0032c0035t0001g0015 | 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 | 36148901 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00621.hp1 others(40): Show |
a0002a0003a0008others(14): Show | a0002c0002a0002c0013a0003c0004others(17): Show | a0002c0002t0001a0002c0013t0001a0003c0004t0001others(17): Show | a0002c0002t0001g0151a0002c0002t0001g0152a0002c0002t0001g0153others(40): Show | 43 | 216 | 0.1991 | 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 | G | GTGTATAT others(1): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0023 | 1 | 216 | 0.0046 | 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 | 36248496 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00621.hp1 HG00673.hp1 others(56): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0029a0002c0002others(25): Show | a0001c0001t0001a0001c0029t0001a0002c0002t0001others(25): Show | a0001c0001t0001g0036a0001c0001t0001g0084a0001c0029t0001g0083others(56): Show | 59 | 216 | 0.2732 | 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 | 36270549 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG01346.hp2 HG02055.hp1 HG02109.hp1 others(13): Show |
a0005a0006a0011others(4): Show | a0005c0005a0006c0008a0006c0048others(6): Show | a0005c0005t0001a0006c0008t0001a0006c0048t0001others(6): Show | a0005c0005t0001g0006a0005c0005t0001g0008a0005c0005t0001g0009others(13): Show | 16 | 216 | 0.0741 | 8 | c.744 others(27): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 49/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36270549 | G | GTGTATAT others(1): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0050 | a0050c0062 | a0050c0062t0001 | a0050c0062t0001g0216 | 1 | 216 | 0.0046 | 8 | c.744 others(27): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 49/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36275415 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02970.hp1 HG03098.hp1 others(1): Show |
a0005a0011a0048 | a0005c0005a0011c0076a0048c0072 | a0005c0005t0001a0011c0076t0001a0048c0072t0001 | a0005c0005t0001g0006a0005c0005t0001g0009a0011c0076t0001g0141others(1): Show | 4 | 216 | 0.0185 | 8 | c.744 others(27): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 49/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36326304 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0007 | a0007c0077 | a0007c0077t0001 | a0007c0077t0001g0140 | 1 | 216 | 0.0046 | 8 | c.844 others(27): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 57/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36336244 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 216 | 0.0046 | 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 | 36371757 | C | CATGTGTA others(1): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0053 | a0053c0061 | a0053c0061t0002 | a0053c0061t0002g0214 | 1 | 216 | 0.0046 | 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 | 9589801 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01192.hp2 HG01256.hp2 others(38): Show |
a0001a0002a0003others(3): Show | a0001c0002a0002c0001a0003c0003others(3): Show | a0001c0002t0001a0002c0001t0001a0002c0001t0002others(4): Show | a0001c0002t0001g0011a0001c0002t0001g0020a0001c0002t0001g0026others(38): Show | 41 | 316 | 0.1298 | 8 | c.407 others(25): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CFAP52_chr17_9571642_9648447 | 9596051 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01069.hp2 HG01074.hp2 others(12): Show |
a0001a0002a0008 | a0001c0002a0002c0001a0008c0009 | a0001c0002t0001a0002c0001t0002a0008c0009t0001 | a0001c0002t0001g0090a0001c0002t0001g0196a0001c0002t0001g0222others(12): Show | 15 | 316 | 0.0475 | 8 | c.536 others(25): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |