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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFAP47_chrX_35914734_36390317 | 35927596 | G | GGTGTGT | intron_variant | MODIFIER | HG02559.hp2 HG02976.hp1 |
a0021 | a0021c0021 | a0021c0021t0001 | a0021c0021t0001g0209a0021c0021t0001g0210 | 2 | 216 | 0.0093 | 6 | c.401 others(23): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 2/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 35949140 | A | AGTGTGT | intron_variant | MODIFIER | HG02055.hp1 HG02559.hp2 HG03209.hp1 others(3): Show |
a0017a0018a0021others(2): Show | a0017c0020a0018c0022a0021c0021others(2): Show | a0017c0020t0001a0018c0022t0001a0021c0021t0001others(2): Show | a0017c0020t0001g0211a0018c0022t0001g0002a0018c0022t0001g0003others(3): Show | 6 | 216 | 0.0278 | 6 | c.656 others(21): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 4/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 35959878 | C | CAAAAAA | intron_variant | MODIFIER | HG02809.hp2 | a0007 | a0007c0077 | a0007c0077t0001 | a0007c0077t0001g0140 | 1 | 216 | 0.0046 | 6 | c.141 others(25): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 8/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 35960380 | G | GAAAAAA | intron_variant | MODIFIER | HG02559.hp2 HG02976.hp1 |
a0021 | a0021c0021 | a0021c0021t0001 | a0021c0021t0001g0209a0021c0021t0001g0210 | 2 | 216 | 0.0093 | 6 | c.141 others(25): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 8/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 35960380 | G | GGAAAAA | intron_variant | MODIFIER | HG02630.hp2 HG02809.hp2 |
a0007a0026 | a0007c0077a0026c0069 | a0007c0077t0001a0026c0069t0001 | a0007c0077t0001g0140a0026c0069t0001g0147 | 2 | 216 | 0.0093 | 6 | c.141 others(25): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 8/63 | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 35966371 | T | TAAGAAA | intron_variant | MODIFIER | HG02630.hp2 HG02809.hp2 NA18522.hp1 |
a0007a0011a0026 | a0007c0077a0011c0076a0026c0069 | a0007c0077t0001a0011c0076t0001a0026c0069t0001 | a0007c0077t0001g0140a0011c0076t0001g0141a0026c0069t0001g0147 | 3 | 216 | 0.0139 | 6 | c.141 others(23): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 8/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 35967932 | C | CAATAAT | intron_variant | MODIFIER | HG02723.hp1 | a0006 | a0006c0048 | a0006c0048t0001 | a0006c0048t0001g0001 | 1 | 216 | 0.0046 | 6 | c.181 others(23): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 10/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 35972578 | T | TTCTATC | intron_variant | MODIFIER | HG02630.hp2 HG02809.hp2 NA18522.hp1 |
a0007a0011a0026 | a0007c0077a0011c0076a0026c0069 | a0007c0077t0001a0011c0076t0001a0026c0069t0001 | a0007c0077t0001g0140a0011c0076t0001g0141a0026c0069t0001g0147 | 3 | 216 | 0.0139 | 6 | c.225 others(23): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 13/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36037338 | T | TTTGTTG | intron_variant | MODIFIER | HG00621.hp1 HG02257.hp2 HG02622.hp1 others(10): Show |
a0002a0003a0006others(6): Show | a0002c0002a0003c0074a0006c0008others(9): Show | a0002c0002t0001a0003c0074t0001a0006c0008t0001others(9): Show | a0002c0002t0001g0154a0003c0074t0001g0139a0006c0008t0001g0022others(10): Show | 13 | 216 | 0.0602 | 6 | c.381 others(25): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 24/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36049488 | T | TCACACA | intron_variant | MODIFIER | HG01515.hp1 HG02040.hp1 HG03471.hp1 others(4): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0004a0004c0003others(1): Show | a0001c0001t0001a0003c0004t0001a0004c0003t0001others(1): Show | a0001c0001t0001g0052a0001c0001t0001g0055a0001c0001t0001g0100others(4): Show | 7 | 216 | 0.0324 | 6 | c.421 others(25): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 26/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36049488 | T | TCTCTTA | intron_variant | MODIFIER | HG03239.hp2 | a0009 | a0009c0012 | a0009c0012t0001 | a0009c0012t0001g0143 | 1 | 216 | 0.0046 | 6 | c.421 others(25): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 26/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36085640 | A | AACACAC | intron_variant | MODIFIER | HG01255.hp1 HG01978.hp1 HG02630.hp2 others(3): Show |
a0008a0014a0026others(1): Show | a0008c0009a0014c0016a0014c0070others(2): Show | a0008c0009t0001a0014c0016t0001a0014c0070t0001others(2): Show | a0008c0009t0001g0164a0014c0016t0001g0193a0014c0016t0001g0200others(3): Show | 6 | 216 | 0.0278 | 6 | c.491 others(23): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 30/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36148901 | A | ATGTGTG | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp1 HG02630.hp1 others(15): Show |
a0002a0003a0005others(5): Show | a0002c0002a0003c0053a0005c0005others(8): Show | a0002c0002t0001a0003c0053t0001a0005c0005t0001others(8): Show | a0002c0002t0001g0150a0003c0053t0001g0056a0005c0005t0001g0008others(15): Show | 18 | 216 | 0.0833 | 6 | c.567 others(23): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 36/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36243647 | G | GTATATA | intron_variant | MODIFIER | HG01943.hp1 NA18944.hp1 |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0001a0004c0003t0001 | a0001c0001t0001g0034a0004c0003t0001g0042 | 2 | 216 | 0.0093 | 6 | c.733 others(25): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 48/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36248496 | T | TCACACA | intron_variant | MODIFIER | HG01255.hp1 HG01891.hp2 HG02559.hp1 others(11): Show |
a0006a0007a0010others(6): Show | a0006c0028a0007c0077a0010c0007others(7): Show | a0006c0028t0001a0007c0077t0001a0010c0007t0001others(7): Show | a0006c0028t0001g0186a0007c0077t0001g0140a0010c0007t0001g0194others(11): Show | 14 | 216 | 0.0648 | 6 | c.733 others(25): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 48/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36275415 | C | CGTGTGT | intron_variant | MODIFIER | HG02886.hp2 HG03209.hp1 NA20905.hp1 others(1): Show |
a0001a0011a0017others(1): Show | a0001c0001a0011c0054a0017c0020others(1): Show | a0001c0001t0001a0011c0054t0001a0017c0020t0001others(1): Show | a0001c0001t0001g0079a0011c0054t0001g0201a0017c0020t0001g0211others(1): Show | 4 | 216 | 0.0185 | 6 | c.744 others(25): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 49/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36326304 | A | AACACAC | intron_variant | MODIFIER | HG01891.hp1 HG02145.hp1 HG02723.hp2 others(9): Show |
a0007a0015a0022others(2): Show | a0007c0006a0015c0018a0015c0073others(3): Show | a0007c0006t0001a0015c0018t0001a0015c0073t0004others(3): Show | a0007c0006t0001g0178a0007c0006t0001g0179a0007c0006t0001g0180others(9): Show | 12 | 216 | 0.0556 | 6 | c.844 others(25): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 57/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36336244 | G | GACACAC | intron_variant | MODIFIER | HG01099.hp1 NA18948.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052a0001c0001t0001g0077 | 2 | 216 | 0.0093 | 6 | 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 | 36339248 | T | TTATAAA | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00621.hp1 others(102): Show |
a0002a0003a0005others(33): Show | a0002c0002a0002c0013a0002c0067others(51): Show | a0002c0002t0001a0002c0013t0001a0002c0067t0001others(51): Show | a0002c0002t0001g0150a0002c0002t0001g0151a0002c0002t0001g0152others(102): Show | 105 | 216 | 0.4861 | 6 | c.844 others(25): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 57/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36370245 | C | CCCCCAG | intron_variant | MODIFIER | HG02886.hp2 | a0011 | a0011c0054 | a0011c0054t0001 | a0011c0054t0001g0201 | 1 | 216 | 0.0046 | 6 | c.918 others(25): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 62/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36371767 | T | TGTGTGC | intron_variant | MODIFIER | NA21309.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0190 | 1 | 216 | 0.0046 | 6 | c.918 others(25): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 62/63 | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 36379122 | T | TTATAAG | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00621.hp1 others(100): Show |
a0002a0003a0005others(33): Show | a0002c0002a0002c0013a0002c0067others(51): Show | a0002c0002t0001a0002c0013t0001a0002c0067t0001others(51): Show | a0002c0002t0001g0150a0002c0002t0001g0151a0002c0002t0001g0152others(100): Show | 103 | 216 | 0.4769 | 6 | c.918 others(23): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 62/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP52_chr17_9571642_9648447 | 9589801 | C | CTTTTTT | intron_variant | MODIFIER | HG01891.hp2 HG02280.hp2 HG02615.hp1 others(15): Show |
a0001a0002a0004others(1): Show | a0001c0002a0002c0001a0004c0006others(1): Show | a0001c0002t0001a0002c0001t0001a0004c0006t0001others(1): Show | a0001c0002t0001g0007a0001c0002t0001g0012a0001c0002t0001g0025others(15): Show | 18 | 316 | 0.0570 | 6 | c.407 others(23): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CFAP52_chr17_9571642_9648447 | 9596051 | A | ATGTGTG | intron_variant | MODIFIER | HG01081.hp1 HG01081.hp2 HG01109.hp1 others(14): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0002a0002c0001t0003 | a0001c0002t0001g0052a0001c0002t0001g0176a0001c0002t0001g0202others(14): Show | 17 | 316 | 0.0538 | 6 | c.536 others(23): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CFAP52_chr17_9571642_9648447 | 9596059 | G | GTATGTA | intron_variant | MODIFIER | HG00621.hp2 HG00673.hp1 HG01071.hp2 others(9): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001 | a0001c0002t0001g0034a0001c0002t0001g0115a0001c0002t0001g0221others(9): Show | 12 | 316 | 0.0380 | 6 | c.536 others(23): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CFAP52_chr17_9571642_9648447 | 9597803 | A | AAGAGAG | intron_variant | MODIFIER | HG02630.hp2 HG02717.hp1 HG03491.hp2 others(5): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001 | a0001c0002t0001g0011a0001c0002t0001g0032a0001c0002t0001g0033others(5): Show | 8 | 316 | 0.0253 | 6 | c.537 others(21): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CFAP52_chr17_9571642_9648447 | 9631082 | G | GAAAGAA | intron_variant | MODIFIER | HG02080.hp2 HG03041.hp1 NA19068.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001 | a0001c0002t0001g0067a0002c0001t0001g0089a0002c0001t0001g0251 | 3 | 316 | 0.0095 | 6 | c.117 others(25): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CFAP52_chr17_9571642_9648447 | 9647848 | C | CAAAAAA | downstream_gene_variant | MODIFIER | HG01106.hp2 HG02896.hp2 HG02897.hp2 others(3): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001 | a0001c0002t0001g0255a0001c0002t0001g0284a0002c0001t0001g0035others(3): Show | 6 | 316 | 0.0190 | 6 | c.*46 others(17): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 4402 | chr17 | TogoVar | ||||||
CFAP53_chr18_50222193_50271495 | 50227955 | C | CTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(167): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(3): Show | a0001c0001t0001g0027a0001c0001t0001g0029a0001c0001t0001g0030others(157): Show | 170 | 402 | 0.4229 | 6 | c.131 others(23): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 7/7 | chr18 | TogoVar | ||||||
CFAP53_chr18_50222193_50271495 | 50237351 | T | TATATAC | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp2 HG00738.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0020a0001c0001t0001g0021others(14): Show | 20 | 402 | 0.0498 | 6 | c.131 others(25): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 7/7 | chr18 | TogoVar | ||||||
CFAP53_chr18_50222193_50271495 | 50261384 | T | TTTTTTG | intron_variant | MODIFIER | NA18949.hp1 NA18971.hp2 NA18980.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0324a0001c0001t0001g0325others(5): Show | 11 | 402 | 0.0274 | 6 | c.300 others(21): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 2/7 | chr18 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96484863 | G | GGTTTTT | upstream_gene_variant | MODIFIER | HG02622.hp2 HG02886.hp2 NA20300.hp2 |
a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0216a0003c0002t0001g0219a0003c0002t0001g0221 | 3 | 268 | 0.0112 | 6 | c.-47 others(17): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 4713 | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96486141 | C | CTTTTCT | upstream_gene_variant | MODIFIER | HG01109.hp1 HG02976.hp1 NA18966.hp1 others(6): Show |
a0002a0009a0012others(2): Show | a0002c0003a0002c0007a0009c0008others(3): Show | a0002c0003t0001a0002c0007t0001a0009c0008t0001others(3): Show | a0002c0003t0001g0151a0002c0007t0001g0149a0002c0007t0001g0152others(6): Show | 9 | 268 | 0.0336 | 6 | c.-34 others(17): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 3435 | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96499982 | C | CAAAACA | intron_variant | MODIFIER | HG00438.hp1 HG03098.hp2 HG03139.hp2 others(3): Show |
a0003a0014a0040 | a0003c0002a0014c0014a0040c0037 | a0003c0002t0001a0014c0014t0001a0040c0037t0001 | a0003c0002t0001g0232a0003c0002t0001g0233a0014c0014t0001g0161others(3): Show | 6 | 268 | 0.0224 | 6 | c.318 others(21): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 1/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96507534 | T | TACACAC | intron_variant | MODIFIER | HG01515.hp2 HG02145.hp2 HG02293.hp2 others(20): Show |
a0001a0005a0006others(8): Show | a0001c0001a0005c0004a0006c0006others(8): Show | a0001c0001t0001a0005c0004t0001a0006c0006t0001others(8): Show | a0001c0001t0001g0095a0001c0001t0001g0165a0001c0001t0001g0166others(20): Show | 23 | 268 | 0.0858 | 6 | c.739 others(21): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 4/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96512301 | T | TTATATA | intron_variant | MODIFIER | HG03490.hp2 NA18944.hp2 NA18947.hp1 others(7): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0012a0002c0007others(3): Show | a0001c0001t0001a0001c0012t0001a0002c0007t0001others(3): Show | a0001c0001t0001g0074a0001c0001t0001g0165a0001c0001t0001g0258others(7): Show | 10 | 268 | 0.0373 | 6 | c.740 others(21): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 4/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96535008 | C | CTGTGTG | intron_variant | MODIFIER | HG00408.hp2 HG01109.hp1 HG01515.hp1 others(11): Show |
a0002a0004a0007others(2): Show | a0002c0003a0002c0091a0004c0011others(3): Show | a0002c0003t0001a0002c0003t0002a0002c0091t0001others(4): Show | a0002c0003t0001g0156a0002c0003t0001g0169a0002c0003t0001g0170others(11): Show | 14 | 268 | 0.0522 | 6 | c.170 others(23): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 11/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96546803 | T | TGGTCAA | intron_variant | MODIFIER | HG00423.hp2 HG01081.hp2 HG01099.hp1 others(25): Show |
a0007a0009a0010others(7): Show | a0007c0019a0007c0028a0007c0071others(11): Show | a0007c0019t0001a0007c0028t0001a0007c0071t0001others(12): Show | a0007c0019t0001g0190a0007c0028t0001g0181a0007c0028t0001g0182others(25): Show | 28 | 268 | 0.1045 | 6 | c.207 others(25): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 14/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96551485 | A | ATGTGTG | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp1 others(26): Show |
a0002a0004a0005others(8): Show | a0002c0003a0002c0007a0002c0091others(10): Show | a0002c0003t0001a0002c0007t0001a0002c0091t0001others(10): Show | a0002c0003t0001g0122a0002c0003t0001g0127a0002c0003t0001g0131others(26): Show | 29 | 268 | 0.1082 | 6 | c.215 others(25): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 15/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96598106 | C | CTAAACT | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(168): Show |
a0001a0002a0003others(38): Show | a0001c0001a0001c0012a0001c0047others(62): Show | a0001c0001t0001a0001c0012t0001a0001c0047t0001others(63): Show | a0001c0001t0001g0004a0001c0001t0001g0018a0001c0001t0001g0021others(168): Show | 171 | 268 | 0.6381 | 6 | c.351 others(23): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 25/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96621875 | G | GTTTTTT | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp1 others(14): Show |
a0002a0012a0025others(1): Show | a0002c0003a0002c0007a0002c0032others(5): Show | a0002c0003t0001a0002c0007t0001a0002c0032t0001others(5): Show | a0002c0003t0001g0121a0002c0003t0001g0122a0002c0003t0001g0133others(14): Show | 17 | 268 | 0.0634 | 6 | c.377 others(23): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 27/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96638184 | C | CATATAT | intron_variant | MODIFIER | HG00280.hp2 NA19079.hp2 NA19081.hp2 |
a0002a0008 | a0002c0003a0002c0007a0008c0009 | a0002c0003t0001a0002c0007t0001a0008c0009t0001 | a0002c0003t0001g0131a0002c0007t0001g0135a0008c0009t0001g0104 | 3 | 268 | 0.0112 | 6 | 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 | 96638205 | A | ATGTGTG | intron_variant | MODIFIER | HG00558.hp1 HG01952.hp1 NA19240.hp1 |
a0002a0048 | a0002c0007a0048c0061 | a0002c0007t0001a0048c0061t0001 | a0002c0007t0001g0125a0002c0007t0001g0137a0048c0061t0001g0017 | 3 | 268 | 0.0112 | 6 | 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 | 96638206 | T | TATATGC | intron_variant | MODIFIER | HG01106.hp2 HG02486.hp1 HG02559.hp1 others(2): Show |
a0007a0012a0028 | a0007c0028a0007c0071a0012c0097others(1): Show | a0007c0028t0001a0007c0071t0001a0012c0097t0001others(1): Show | a0007c0028t0001g0181a0007c0028t0001g0182a0007c0071t0001g0180others(2): Show | 5 | 268 | 0.0187 | 6 | c.431 others(25): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 32/67 | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96647472 | C | CAAAAAA | intron_variant | MODIFIER | HG00544.hp1 HG00621.hp1 HG01123.hp1 others(18): Show |
a0002a0007a0008others(7): Show | a0002c0003a0002c0007a0002c0091others(10): Show | a0002c0003t0001a0002c0007t0001a0002c0091t0001others(10): Show | a0002c0003t0001g0127a0002c0003t0001g0143a0002c0003t0001g0151others(18): Show | 21 | 268 | 0.0784 | 6 | c.454 others(23): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 33/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96664622 | A | ATGTGTG | intron_variant | MODIFIER | HG01106.hp2 HG01109.hp1 HG02148.hp1 others(11): Show |
a0004a0005a0007others(4): Show | a0004c0011a0004c0081a0005c0004others(8): Show | a0004c0011t0001a0004c0081t0001a0005c0004t0001others(8): Show | a0004c0011t0001g0118a0004c0011t0001g0120a0004c0081t0001g0128others(11): Show | 14 | 268 | 0.0522 | 6 | c.556 others(23): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 39/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96664759 | A | ATATATC | intron_variant | MODIFIER | HG03490.hp1 HG03654.hp2 HG03688.hp1 others(1): Show |
a0008a0016 | a0008c0009a0008c0055a0016c0022 | a0008c0009t0001a0008c0055t0001a0016c0022t0001 | a0008c0009t0001g0019a0008c0055t0001g0042a0016c0022t0001g0217others(1): Show | 4 | 268 | 0.0149 | 6 | c.556 others(23): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 39/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96709701 | T | TTTATTA | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG01099.hp2 others(26): Show |
a0002a0003a0004others(8): Show | a0002c0003a0003c0002a0004c0005others(12): Show | a0002c0003t0001a0002c0003t0002a0003c0002t0001others(13): Show | a0002c0003t0001g0171a0002c0003t0002g0172a0002c0003t0002g0173others(26): Show | 29 | 268 | 0.1082 | 6 | c.672 others(23): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 48/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96750285 | T | TGCAGCA | intron_variant | MODIFIER | HG00544.hp2 HG01123.hp2 HG01358.hp1 others(18): Show |
a0005a0035a0052others(1): Show | a0005c0004a0005c0015a0005c0020others(4): Show | a0005c0004t0001a0005c0015t0001a0005c0020t0001others(4): Show | a0005c0004t0001g0010a0005c0004t0001g0011a0005c0004t0001g0012others(18): Show | 21 | 268 | 0.0784 | 6 | c.768 others(25): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 55/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96752085 | T | TGAGAGA | intron_variant | MODIFIER | HG00558.hp1 HG00738.hp1 HG00741.hp2 others(28): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0012a0002c0003others(19): Show | a0001c0001t0001a0001c0012t0001a0002c0003t0001others(19): Show | a0001c0001t0001g0084a0001c0001t0001g0085a0001c0001t0001g0088others(28): Show | 31 | 268 | 0.1157 | 6 | c.768 others(25): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 55/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |