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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFAP100_chr3_126389909_126441556 | 126401397 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01261.hp2 HG02083.hp1 others(6): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0002t0001a0003c0005t0001 | a0001c0001t0001g0047a0001c0001t0001g0077a0001c0001t0001g0080others(6): Show | 9 | 422 | 0.0213 | 8 | c.49+ others(23): Show |
CFAP100 | ENSG00000163885.12 | transcript | ENST00000352312.6 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CFAP100_chr3_126389909_126441556 | 126401397 | T | TTTTATAT others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01099.hp1 HG01175.hp1 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0004others(2): Show | a0001c0001t0001a0001c0002t0001a0002c0004t0001others(2): Show | a0001c0001t0001g0041a0001c0001t0001g0060a0001c0001t0001g0253others(10): Show | 13 | 422 | 0.0308 | 8 | c.49+ others(23): Show |
CFAP100 | ENSG00000163885.12 | transcript | ENST00000352312.6 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CFAP100_chr3_126389909_126441556 | 126405663 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG01070.hp2 others(10): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0013a0001c0001t0001g0355a0001c0001t0001g0356others(8): Show | 13 | 422 | 0.0308 | 8 | c.50- others(23): Show |
CFAP100 | ENSG00000163885.12 | transcript | ENST00000352312.6 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CFAP100_chr3_126389909_126441556 | 126432630 | T | TCAGGGTA others(1): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01109.hp2 others(49): Show |
a0001a0005a0009others(1): Show | a0001c0001a0001c0002a0001c0016others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0016t0001others(3): Show | a0001c0001t0001g0013a0001c0001t0001g0017a0001c0001t0001g0038others(47): Show | 52 | 422 | 0.1232 | 8 | c.128 others(25): Show |
CFAP100 | ENSG00000163885.12 | transcript | ENST00000352312.6 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CFAP141_chr1_154194085_154211333 | 154204091 | C | CAATAAAT others(1): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01106.hp1 HG01123.hp1 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0049a0001c0002t0001g0053a0001c0002t0001g0144others(6): Show | 10 | 372 | 0.0269 | 8 | c.74+ others(23): Show |
CFAP141 | ENSG00000163263.7 | transcript | ENST00000368525.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
CFAP144_chr1_43142904_43161396 | 43158506 | G | GATTTACA others(1): Show |
downstream_gene_variant | MODIFIER | HG02976.hp2 HG03041.hp1 HG03098.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 4 | 396 | 0.0101 | 8 | c.*21 others(19): Show |
CFAP144 | ENSG00000186973.11 | transcript | ENST00000335282.5 | protein_coding | 2111 | chr1 | TogoVar | ||||||
CFAP161_chr15_81129270_81154179 | 81133221 | A | ATATATAT others(1): Show |
upstream_gene_variant | MODIFIER | NA18955.hp2 NA19005.hp2 NA19079.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0215a0001c0001t0001g0266 | 3 | 448 | 0.0067 | 8 | c.-11 others(19): Show |
CFAP161 | ENSG00000156206.14 | transcript | ENST00000286732.5 | protein_coding | 1048 | chr15 | TogoVar | ||||||
CFAP161_chr15_81129270_81154179 | 81146831 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01074.hp1 HG01074.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0020a0001c0001t0001g0042a0001c0001t0001g0050others(12): Show | 21 | 448 | 0.0469 | 8 | c.637 others(23): Show |
CFAP161 | ENSG00000156206.14 | transcript | ENST00000286732.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CFAP206_chr6_87402972_87469465 | 87450475 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(62): Show |
a0001a0005a0008others(1): Show | a0001c0001a0005c0006a0008c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0005c0006t0002others(2): Show | a0001c0001t0001g0054a0001c0001t0001g0058a0001c0001t0002g0002others(57): Show | 65 | 376 | 0.1729 | 8 | c.149 others(29): Show |
CFAP206 | ENSG00000272514.6 | transcript | ENST00000369562.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CFAP20DC_chr3_58737008_59055025 | 58751840 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01891.hp1 |
a0001a0003 | a0001c0002a0003c0007 | a0001c0002t0001a0003c0007t0001 | a0001c0002t0001g0196a0003c0007t0001g0192 | 2 | 204 | 0.0098 | 8 | c.233 others(27): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 16/16 | chr3 | TogoVar | ||||||
CFAP20DC_chr3_58737008_59055025 | 58801050 | T | TGAGAGAG others(1): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02615.hp1 HG02922.hp2 others(3): Show |
a0001a0008 | a0001c0002a0008c0011 | a0001c0002t0001a0008c0011t0002 | a0001c0002t0001g0158a0001c0002t0001g0197a0001c0002t0001g0198others(3): Show | 6 | 204 | 0.0294 | 8 | c.223 others(27): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 15/16 | chr3 | TogoVar | ||||||
CFAP20DC_chr3_58737008_59055025 | 58825538 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(129): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0005others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(14): Show | a0001c0001t0001g0001a0001c0001t0001g0037a0001c0001t0001g0061others(129): Show | 132 | 204 | 0.6471 | 8 | c.217 others(27): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 14/16 | chr3 | TogoVar | ||||||
CFAP20DC_chr3_58737008_59055025 | 58856265 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01099.hp2 HG01496.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0007a0001c0001t0001g0047a0001c0001t0001g0051others(10): Show | 13 | 204 | 0.0637 | 8 | c.159 others(27): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 12/16 | chr3 | TogoVar | ||||||
CFAP20DC_chr3_58737008_59055025 | 58963190 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00741.hp1 others(21): Show |
a0001a0006a0007 | a0001c0001a0001c0002a0006c0014others(1): Show | a0001c0001t0001a0001c0002t0002a0006c0014t0001others(1): Show | a0001c0001t0001g0051a0001c0001t0001g0063a0001c0001t0001g0070others(21): Show | 24 | 204 | 0.1177 | 8 | c.279 others(27): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 4/16 | chr3 | TogoVar | ||||||
CFAP20DC_chr3_58737008_59055025 | 58995975 | A | AATCAATC others(1): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02735.hp2 NA18950.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0004 | a0001c0001t0001g0148a0001c0002t0002g0012a0001c0002t0002g0013others(4): Show | 7 | 204 | 0.0343 | 8 | c.278 others(27): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 4/16 | chr3 | TogoVar | ||||||
CFAP20DC_chr3_58737008_59055025 | 58995975 | A | AATCTATC others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00438.hp2 others(64): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(9): Show | a0001c0001t0001g0007a0001c0001t0001g0047a0001c0001t0001g0050others(64): Show | 67 | 204 | 0.3284 | 8 | c.278 others(27): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 4/16 | chr3 | TogoVar | ||||||
CFAP20_chr16_58108592_58134381 | 58114525 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00673.hp2 HG01099.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0013a0001c0001t0002g0026a0001c0001t0002g0068others(11): Show | 26 | 400 | 0.0650 | 8 | c.576 others(23): Show |
CFAP20 | ENSG00000070761.8 | transcript | ENST00000262498.8 | protein_coding | 5/5 | chr16 | TogoVar | ||||||
CFAP210_chr2_169640425_169699405 | 169650734 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02145.hp1 HG02451.hp2 others(18): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(3): Show | a0001c0001t0001g0177a0001c0001t0001g0178a0001c0001t0001g0179others(18): Show | 21 | 390 | 0.0539 | 8 | c.960 others(23): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 6/8 | chr2 | TogoVar | ||||||
CFAP210_chr2_169640425_169699405 | 169692444 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02486.hp2 HG02647.hp1 others(3): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0136a0001c0001t0001g0288a0001c0001t0001g0289others(3): Show | 6 | 390 | 0.0154 | 8 | c.67+ others(23): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 1/8 | chr2 | TogoVar | ||||||
CFAP210_chr2_169640425_169699405 | 169692444 | G | GCGCACAC others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01433.hp1 HG02155.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0357a0001c0001t0001g0358a0001c0001t0001g0359others(4): Show | 7 | 390 | 0.0180 | 8 | c.67+ others(23): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 1/8 | chr2 | TogoVar | ||||||
CFAP221_chr2_119539449_119661661 | 119628294 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01261.hp2 HG02027.hp1 others(16): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0002c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(4): Show | a0001c0001t0001g0004a0001c0001t0001g0120a0001c0001t0001g0139others(16): Show | 19 | 226 | 0.0841 | 8 | c.165 others(25): Show |
CFAP221 | ENSG00000163075.13 | transcript | ENST00000413369.8 | protein_coding | 16/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CFAP251_chr12_121913592_122008919 | 121928626 | G | GTGTATAT others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG02040.hp1 others(27): Show |
a0002a0006 | a0002c0004a0002c0008a0006c0011 | a0002c0004t0001a0002c0008t0001a0006c0011t0001 | a0002c0004t0001g0276a0002c0004t0001g0278a0002c0004t0001g0279others(26): Show | 30 | 354 | 0.0848 | 8 | c.748 others(25): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP251_chr12_121913592_122008919 | 121928642 | A | ATATATAC others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG02040.hp1 others(34): Show |
a0002a0003a0006 | a0002c0004a0002c0008a0003c0012others(1): Show | a0002c0004t0001a0002c0008t0001a0003c0012t0001others(1): Show | a0002c0004t0001g0086a0002c0004t0001g0276a0002c0004t0001g0278others(33): Show | 37 | 354 | 0.1045 | 8 | c.748 others(25): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP251_chr12_121913592_122008919 | 121928670 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | NA18942.hp1 NA18978.hp1 NA18981.hp1 others(1): Show |
a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0060a0003c0009t0001g0061a0003c0009t0001g0062others(1): Show | 4 | 354 | 0.0113 | 8 | c.748 others(25): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP251_chr12_121913592_122008919 | 121928674 | A | ATATATAC others(1): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00621.hp2 HG00642.hp2 others(20): Show |
a0002a0006a0009 | a0002c0004a0006c0006a0006c0011others(2): Show | a0002c0004t0001a0006c0006t0001a0006c0011t0001others(2): Show | a0002c0004t0001g0003a0002c0004t0001g0004a0002c0004t0001g0055others(20): Show | 23 | 354 | 0.0650 | 8 | c.748 others(25): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP251_chr12_121913592_122008919 | 121954636 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01109.hp1 HG01175.hp1 others(7): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0165a0001c0001t0001g0191a0003c0003t0001g0092others(7): Show | 10 | 354 | 0.0283 | 8 | c.153 others(25): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP251_chr12_121913592_122008919 | 121979563 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(42): Show |
a0001a0003a0004others(3): Show | a0001c0001a0003c0003a0004c0002others(3): Show | a0001c0001t0001a0003c0003t0001a0004c0002t0001others(3): Show | a0001c0001t0001g0113a0001c0001t0001g0139a0001c0001t0001g0143others(42): Show | 45 | 354 | 0.1271 | 8 | c.300 others(27): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP276_chr1_109100951_109117747 | 109113451 | A | AGAGGGAG others(1): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG01074.hp2 HG01884.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(1): Show | 5 | 404 | 0.0124 | 8 | c.-77 others(17): Show |
CFAP276 | ENSG00000179902.13 | transcript | ENST00000369948.8 | protein_coding | 705 | chr1 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80390618 | T | TGTACACA others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG00639.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(5): Show | 8 | 96 | 0.0833 | 8 | c.242 others(27): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80390808 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 HG02976.hp1 others(4): Show |
a0001a0002 | a0001c0004a0002c0002a0002c0005 | a0001c0004t0001a0002c0002t0001a0002c0005t0001 | a0001c0004t0001g0065a0001c0004t0001g0066a0002c0002t0001g0067others(4): Show | 7 | 96 | 0.0729 | 8 | c.242 others(27): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80390928 | T | TATACACA others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02486.hp1 HG02922.hp1 others(1): Show |
a0001 | a0001c0003a0001c0009 | a0001c0003t0001a0001c0003t0002a0001c0009t0002 | a0001c0003t0001g0035a0001c0003t0002g0036a0001c0003t0002g0037others(1): Show | 4 | 96 | 0.0417 | 8 | c.242 others(27): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80504462 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00639.hp2 HG02615.hp1 others(11): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(2): Show | a0001c0001t0001g0031a0001c0001t0001g0042a0001c0001t0001g0052others(11): Show | 14 | 96 | 0.1458 | 8 | c.243 others(27): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80512221 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02280.hp1 HG02451.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0024a0001c0001t0001g0025a0001c0001t0001g0029others(7): Show | 10 | 96 | 0.1042 | 8 | c.243 others(27): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80581453 | G | GATATATA others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01243.hp1 HG02280.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0003t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0003t0002g0084others(2): Show | 5 | 96 | 0.0521 | 8 | c.243 others(25): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80651704 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01243.hp1 HG02258.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(2): Show | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0043others(5): Show | 8 | 96 | 0.0833 | 8 | c.333 others(27): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80724881 | T | TTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02976.hp2 HG03225.hp2 others(1): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0002a0002c0002t0001 | a0001c0003t0002g0084a0001c0003t0002g0090a0002c0002t0001g0016others(1): Show | 4 | 96 | 0.0417 | 8 | c.333 others(29): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80771507 | A | ACTGAGTA others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(91): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(8): Show | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0009others(91): Show | 94 | 96 | 0.9792 | 8 | c.334 others(27): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80800551 | A | AATATAAA others(1): Show |
intron_variant | MODIFIER | HG03540.hp1 NA19043.hp2 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0001 | a0001c0001t0001g0049a0002c0005t0001g0058 | 2 | 96 | 0.0208 | 8 | c.334 others(27): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80868905 | C | CTCTCTGT others(1): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03516.hp1 |
a0001a0002 | a0001c0004a0002c0007 | a0001c0004t0001a0002c0007t0001 | a0001c0004t0001g0050a0002c0007t0001g0047 | 2 | 96 | 0.0208 | 8 | c.334 others(25): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80868905 | C | CTCTGTGT others(1): Show |
intron_variant | MODIFIER | HG02735.hp2 HG02965.hp2 |
a0001a0002 | a0001c0004a0002c0006 | a0001c0004t0001a0002c0006t0001 | a0001c0004t0001g0095a0002c0006t0001g0088 | 2 | 96 | 0.0208 | 8 | c.334 others(25): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80895189 | C | CACACACA others(1): Show |
intron_variant | MODIFIER | HG03041.hp1 HG06807.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0018a0002c0002t0001g0002 | 2 | 96 | 0.0208 | 8 | c.476 others(27): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80900123 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01109.hp2 HG02040.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0007a0001c0001t0001g0048a0001c0001t0001g0054others(6): Show | 9 | 96 | 0.0938 | 8 | c.476 others(27): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80902586 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02451.hp2 HG02615.hp1 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0008 | a0001c0001t0001a0002c0002t0001a0003c0008t0001 | a0001c0001t0001g0073a0001c0001t0001g0077a0002c0002t0001g0068others(1): Show | 4 | 96 | 0.0417 | 8 | c.476 others(27): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80902586 | T | TATATACA others(1): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01243.hp1 HG02040.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(2): Show | a0001c0001t0001g0019a0001c0001t0001g0023a0001c0001t0001g0029others(11): Show | 14 | 96 | 0.1458 | 8 | c.476 others(27): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80924514 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02280.hp1 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0002g0027 | 3 | 96 | 0.0313 | 8 | c.477 others(27): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80924538 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG03041.hp1 HG06807.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0018a0002c0002t0001g0002 | 2 | 96 | 0.0208 | 8 | c.477 others(27): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80931145 | A | AAGTGAGT others(1): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG01243.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(1): Show | a0001c0001t0001g0013a0001c0001t0001g0018a0001c0001t0001g0096others(7): Show | 10 | 96 | 0.1042 | 8 | c.477 others(27): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP418_chr8_95239913_95274201 | 95244596 | T | TACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 HG01256.hp1 HG01258.hp2 others(13): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0008a0001c0001t0010others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0011others(7): Show | 16 | 388 | 0.0412 | 8 | c.*30 others(19): Show |
CFAP418 | ENSG00000156172.6 | transcript | ENST00000286688.6 | protein_coding | 316 | chr8 | TogoVar | ||||||
CFAP418_chr8_95239913_95274201 | 95270979 | A | AACACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 HG00738.hp2 HG00741.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0002c0002t0020a0002c0003t0012 | a0001c0001t0001g0001a0001c0001t0001g0014a0002c0002t0020g0150others(1): Show | 5 | 388 | 0.0129 | 8 | c.-17 others(19): Show |
CFAP418 | ENSG00000156172.6 | transcript | ENST00000286688.6 | protein_coding | 1779 | chr8 | TogoVar | ||||||
CFAP43_chr10_104124888_104237364 | 104157773 | T | TGAGAGAG others(1): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02451.hp1 HG02897.hp1 others(3): Show |
a0001a0013 | a0001c0001a0013c0017 | a0001c0001t0001a0013c0017t0001 | a0001c0001t0001g0121a0001c0001t0001g0187a0001c0001t0001g0210others(3): Show | 6 | 306 | 0.0196 | 8 | c.354 others(27): Show |
CFAP43 | ENSG00000197748.13 | transcript | ENST00000357060.8 | protein_coding | 27/37 | chr10 | TogoVar |