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 | 36037338 | TTTGTTG | T | intron_variant | MODIFIER | HG02572.hp1 NA18906.hp1 |
a0011a0016 | a0011c0030a0016c0031 | a0011c0030t0001a0016c0031t0002 | a0011c0030t0001g0185a0016c0031t0002g0202 | 2 | 216 | 0.0093 | -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 | TCACACA | T | intron_variant | MODIFIER | HG02630.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0009 | 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 | 36077183 | CTTTTTT | C | intron_variant | MODIFIER | HG02622.hp2 HG03209.hp1 HG03225.hp1 others(2): Show |
a0005a0041a0051others(2): Show | a0005c0005a0041c0075a0051c0059others(2): Show | a0005c0005t0001a0041c0075t0001a0051c0059t0001others(2): Show | a0005c0005t0001g0190a0041c0075t0001g0135a0051c0059t0001g0215others(2): Show | 5 | 216 | 0.0232 | -6 | c.469 others(25): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 29/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36126077 | AATTATT | A | intron_variant | MODIFIER | HG01261.hp1 HG01346.hp2 HG01884.hp1 others(27): Show |
a0005a0006a0012others(10): Show | a0005c0005a0005c0015a0006c0008others(14): Show | a0005c0005t0001a0005c0015t0001a0006c0008t0001others(14): Show | a0005c0005t0001g0006a0005c0005t0001g0008a0005c0005t0001g0009others(27): Show | 30 | 216 | 0.1389 | -6 | c.532 others(27): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 33/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36145076 | CGTGTGT | C | intron_variant | MODIFIER | HG02922.hp2 HG06807.hp2 |
a0003a0007 | a0003c0074a0007c0006 | a0003c0074t0001a0007c0006t0001 | a0003c0074t0001g0139a0007c0006t0001g0203 | 2 | 216 | 0.0093 | -6 | c.553 others(23): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 35/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36148897 | ATGTATG | A | intron_variant | MODIFIER | HG02886.hp1 | a0050 | a0050c0062 | a0050c0062t0001 | a0050c0062t0001g0216 | 1 | 216 | 0.0046 | -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 | 36148901 | ATGTGTG | A | intron_variant | MODIFIER | HG02970.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0006 | 1 | 216 | 0.0046 | -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 | GTATATA | G | intron_variant | MODIFIER | HG00408.hp1 HG00621.hp1 HG01109.hp1 others(31): Show |
a0001a0002a0003others(9): Show | a0001c0001a0002c0002a0002c0013others(12): Show | a0001c0001t0001a0002c0002t0001a0002c0013t0001others(12): Show | a0001c0001t0001g0027a0001c0001t0001g0029a0001c0001t0001g0036others(31): Show | 34 | 216 | 0.1574 | -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 | 36261320 | CTTTTTT | C | intron_variant | MODIFIER | HG02630.hp2 NA20300.hp2 |
a0017a0026 | a0017c0020a0026c0069 | a0017c0020t0001a0026c0069t0001 | a0017c0020t0001g0212a0026c0069t0001g0147 | 2 | 216 | 0.0093 | -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 | 36336244 | GACACAC | G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(28): Show |
a0001a0005a0006others(9): Show | a0001c0001a0005c0015a0006c0008others(10): Show | a0001c0001t0001a0005c0015t0001a0006c0008t0001others(10): Show | a0001c0001t0001g0018a0001c0001t0001g0026a0001c0001t0001g0047others(28): Show | 31 | 216 | 0.1435 | -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 | 36364901 | CATATAT | C | intron_variant | MODIFIER | HG00609.hp1 HG01952.hp1 HG02273.hp2 others(11): Show |
a0001a0010a0013others(3): Show | a0001c0001a0001c0039a0010c0007others(4): Show | a0001c0001t0001a0001c0039t0001a0010c0007t0001others(4): Show | a0001c0001t0001g0038a0001c0001t0001g0052a0001c0001t0001g0114others(11): Show | 14 | 216 | 0.0648 | -6 | c.902 others(25): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 61/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36371635 | TACACAC | T | intron_variant | MODIFIER | HG00408.hp1 HG00621.hp1 HG00673.hp1 others(30): Show |
a0002a0003a0008others(2): Show | a0002c0002a0002c0013a0002c0067others(6): Show | a0002c0002t0001a0002c0013t0001a0002c0067t0001others(6): Show | a0002c0002t0001g0150a0002c0002t0001g0151a0002c0002t0001g0152others(30): Show | 33 | 216 | 0.1528 | -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 | 36371721 | TACACAC | T | intron_variant | MODIFIER | NA20300.hp2 | a0017 | a0017c0020 | a0017c0020t0001 | a0017c0020t0001g0212 | 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 | 36371751 | TACACAC | T | intron_variant | MODIFIER | NA19043.hp1 NA20300.hp2 |
a0006a0017 | a0006c0028a0017c0020 | a0006c0028t0001a0017c0020t0001 | a0006c0028t0001g0186a0017c0020t0001g0212 | 2 | 216 | 0.0093 | -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 | 36371753 | CACACAT | C | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02630.hp1 others(8): Show |
a0005a0006a0011others(2): Show | a0005c0005a0005c0015a0006c0008others(3): Show | a0005c0005t0001a0005c0015t0001a0006c0008t0001others(3): Show | a0005c0005t0001g0006a0005c0005t0001g0008a0005c0005t0001g0009others(8): Show | 11 | 216 | 0.0509 | -6 | c.918 others(25): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 62/63 | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 36371769 | TACACAC | T | intron_variant | MODIFIER | HG01346.hp2 HG01884.hp2 HG01891.hp1 others(25): Show |
a0003a0006a0007others(12): Show | a0003c0074a0006c0008a0006c0048others(17): Show | a0003c0074t0001a0006c0008t0001a0006c0048t0001others(17): Show | a0003c0074t0001g0139a0006c0008t0001g0022a0006c0008t0001g0023others(25): Show | 28 | 216 | 0.1296 | -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 | 36384347 | AAAAAAT | A | intron_variant | MODIFIER | HG01346.hp2 HG01884.hp2 HG02257.hp2 others(10): Show |
a0005a0011a0014others(5): Show | a0005c0015a0011c0046a0011c0049others(8): Show | a0005c0015t0001a0011c0046t0001a0011c0049t0001others(8): Show | a0005c0015t0001g0131a0011c0046t0001g0187a0011c0049t0001g0184others(10): Show | 13 | 216 | 0.0602 | -6 | c.935 others(23): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 63/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP52_chr17_9571642_9648447 | 9596057 | GTGTATA | G | intron_variant | MODIFIER | HG01884.hp1 HG02572.hp1 HG02615.hp2 others(8): Show |
a0001a0009a0010 | a0001c0002a0001c0004a0009c0015others(1): Show | a0001c0002t0001a0001c0004t0004a0009c0015t0001others(1): Show | a0001c0002t0001g0016a0001c0002t0001g0045a0001c0002t0001g0094others(8): Show | 11 | 316 | 0.0348 | -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 | GTATATA | G | intron_variant | MODIFIER | HG01106.hp1 NA18977.hp1 NA21309.hp2 |
a0001a0002a0005 | a0001c0005a0002c0001a0005c0008 | a0001c0005t0004a0002c0001t0001a0005c0008t0001 | a0001c0005t0004g0215a0002c0001t0001g0286a0005c0008t0001g0261 | 3 | 316 | 0.0095 | -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 | 9605694 | GAAAAAA | G | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00438.hp1 others(83): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0001a0003c0003others(1): Show | a0001c0002t0001a0001c0002t0002a0002c0001t0001others(2): Show | a0001c0002t0001g0003a0001c0002t0001g0008a0001c0002t0001g0016others(83): Show | 86 | 316 | 0.2722 | -6 | c.754 others(23): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CFAP52_chr17_9571642_9648447 | 9615795 | CTTTTTT | C | intron_variant | MODIFIER | HG00323.hp2 HG01123.hp1 HG01168.hp1 others(25): Show |
a0001a0002a0007 | a0001c0002a0001c0005a0002c0001others(1): Show | a0001c0002t0001a0001c0005t0004a0002c0001t0001others(1): Show | a0001c0002t0001g0003a0001c0002t0001g0007a0001c0002t0001g0008others(25): Show | 28 | 316 | 0.0886 | -6 | c.102 others(25): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CFAP53_chr18_50222193_50271495 | 50237379 | CACACAT | C | intron_variant | MODIFIER | HG00423.hp2 HG00609.hp2 NA18940.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0203a0001c0001t0001g0205others(13): Show | 17 | 402 | 0.0423 | -6 | c.131 others(25): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 7/7 | chr18 | TogoVar | ||||||
CFAP53_chr18_50222193_50271495 | 50250234 | AAAAGAG | A | intron_variant | MODIFIER | HG02027.hp2 NA18949.hp1 NA18971.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0282a0001c0001t0001g0324others(5): Show | 11 | 402 | 0.0274 | -6 | c.996 others(21): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 5/7 | chr18 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96512301 | TTATATA | T | intron_variant | MODIFIER | HG00544.hp2 HG00738.hp2 HG01106.hp1 others(22): Show |
a0001a0004a0005others(5): Show | a0001c0001a0001c0012a0001c0047others(9): Show | a0001c0001t0001a0001c0012t0001a0001c0047t0001others(9): Show | a0001c0001t0001g0033a0001c0001t0001g0056a0001c0001t0001g0068others(22): Show | 25 | 268 | 0.0933 | -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 | 96515912 | GTTTTTT | G | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp1 others(54): Show |
a0001a0002a0004others(13): Show | a0001c0086a0002c0003a0002c0007others(18): Show | a0001c0086t0001a0002c0003t0001a0002c0003t0002others(19): Show | a0001c0086t0001g0148a0002c0003t0001g0121a0002c0003t0001g0122others(54): Show | 57 | 268 | 0.2127 | -6 | c.798 others(23): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 5/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96521503 | CGTGTGT | C | intron_variant | MODIFIER | HG01123.hp2 HG01952.hp2 HG01975.hp2 others(12): Show |
a0001a0005a0008others(2): Show | a0001c0001a0005c0004a0008c0009others(2): Show | a0001c0001t0001a0005c0004t0001a0008c0009t0001others(2): Show | a0001c0001t0001g0055a0001c0001t0001g0165a0001c0001t0001g0166others(12): Show | 15 | 268 | 0.0560 | -6 | c.943 others(21): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 6/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96521543 | TGTGTGC | T | intron_variant | MODIFIER | HG00423.hp2 HG01496.hp2 HG02622.hp1 others(16): Show |
a0002a0004a0009others(7): Show | a0002c0003a0004c0082a0009c0008others(7): Show | a0002c0003t0001a0004c0082t0001a0009c0008t0001others(7): Show | a0002c0003t0001g0151a0004c0082t0001g0167a0009c0008t0001g0197others(16): Show | 19 | 268 | 0.0709 | -6 | c.943 others(21): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 6/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96535008 | CTGTGTG | C | intron_variant | MODIFIER | HG00423.hp2 HG01081.hp1 HG01081.hp2 others(25): Show |
a0001a0004a0007others(10): Show | a0001c0001a0004c0005a0007c0019others(10): Show | a0001c0001t0001a0004c0005t0001a0007c0019t0001others(10): Show | a0001c0001t0001g0004a0001c0001t0001g0018a0001c0001t0001g0023others(25): Show | 28 | 268 | 0.1045 | -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 | 96551485 | ATGTGTG | A | intron_variant | MODIFIER | HG01123.hp2 HG01358.hp1 HG01952.hp2 others(12): Show |
a0005a0020a0035others(1): Show | a0005c0004a0020c0024a0035c0063others(1): Show | a0005c0004t0001a0020c0024t0001a0035c0063t0001others(1): Show | a0005c0004t0001g0010a0005c0004t0001g0011a0005c0004t0001g0012others(12): Show | 15 | 268 | 0.0560 | -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 | 96561704 | TACACAC | T | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00597.hp1 others(57): Show |
a0003a0005a0007others(14): Show | a0003c0002a0003c0016a0003c0033others(20): Show | a0003c0002t0001a0003c0002t0004a0003c0016t0001others(21): Show | a0003c0002t0001g0210a0003c0002t0001g0215a0003c0002t0001g0216others(57): Show | 60 | 268 | 0.2239 | -6 | c.241 others(25): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 17/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96605638 | ACCTATT | A | intron_variant | MODIFIER | HG00280.hp2 HG01123.hp1 HG01256.hp1 others(13): Show |
a0002a0003a0007others(7): Show | a0002c0032a0003c0033a0007c0075others(8): Show | a0002c0032t0001a0003c0033t0001a0007c0075t0001others(8): Show | a0002c0032t0001g0222a0003c0033t0001g0218a0007c0075t0001g0015others(13): Show | 16 | 268 | 0.0597 | -6 | c.363 others(25): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 26/67 | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96608308 | TACACAC | T | intron_variant | MODIFIER | HG01123.hp1 HG02622.hp1 HG02895.hp1 others(6): Show |
a0004a0008a0026others(5): Show | a0004c0081a0008c0056a0026c0025others(5): Show | a0004c0081t0001a0008c0056t0001a0026c0025t0001others(5): Show | a0004c0081t0001g0128a0008c0056t0001g0020a0026c0025t0001g0002others(6): Show | 9 | 268 | 0.0336 | -6 | c.363 others(25): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 26/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96621875 | GTTTTTT | G | intron_variant | MODIFIER | HG01978.hp1 HG02109.hp2 HG02896.hp1 others(5): Show |
a0001a0004a0006others(2): Show | a0001c0001a0004c0005a0004c0011others(3): Show | a0001c0001t0001a0004c0005t0001a0004c0011t0001others(3): Show | a0001c0001t0001g0004a0004c0005t0001g0231a0004c0011t0001g0117others(5): Show | 8 | 268 | 0.0299 | -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 | 96638237 | GTGTGTA | G | intron_variant | MODIFIER | HG00408.hp2 HG01109.hp1 HG01515.hp1 others(12): Show |
a0002a0005a0038others(1): Show | a0002c0003a0002c0007a0005c0004others(2): Show | a0002c0003t0001a0002c0003t0002a0002c0007t0001others(3): Show | a0002c0003t0001g0133a0002c0003t0001g0156a0002c0003t0001g0157others(12): Show | 15 | 268 | 0.0560 | -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 | 96664622 | ATGTGTG | A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(69): Show |
a0001a0003a0004others(12): Show | a0001c0001a0001c0012a0001c0047others(19): Show | a0001c0001t0001a0001c0012t0001a0001c0047t0001others(19): Show | a0001c0001t0001g0004a0001c0001t0001g0018a0001c0001t0001g0021others(69): Show | 72 | 268 | 0.2687 | -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 | 96664697 | CTATATA | C | intron_variant | MODIFIER | HG00438.hp2 HG01516.hp2 HG02148.hp2 others(11): Show |
a0001a0006a0007others(1): Show | a0001c0001a0001c0078a0006c0006others(3): Show | a0001c0001t0001a0001c0078t0001a0006c0006t0001others(3): Show | a0001c0001t0001g0021a0001c0001t0001g0032a0001c0001t0001g0050others(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 | 96704452 | GTATATA | G | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00673.hp2 others(28): Show |
a0001a0003a0004others(9): Show | a0001c0001a0001c0012a0003c0002others(12): Show | a0001c0001t0001a0001c0012t0001a0003c0002t0001others(12): Show | a0001c0001t0001g0018a0001c0001t0001g0024a0001c0001t0001g0035others(28): Show | 31 | 268 | 0.1157 | -6 | c.647 others(23): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 46/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96752085 | TGAGAGA | T | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02145.hp1 others(14): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0003a0003c0002others(7): Show | a0001c0001t0001a0002c0003t0002a0003c0002t0001others(8): Show | a0001c0001t0001g0026a0001c0001t0001g0083a0002c0003t0002g0172others(14): Show | 17 | 268 | 0.0634 | -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 | 96755942 | AAGCGTG | A | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00738.hp1 others(20): Show |
a0009a0010a0013others(6): Show | a0009c0008a0010c0013a0013c0018others(8): Show | a0009c0008t0001a0010c0013t0001a0013c0018t0001others(8): Show | a0009c0008t0001g0197a0009c0008t0001g0198a0009c0008t0001g0199others(20): Show | 23 | 268 | 0.0858 | -6 | c.784 others(23): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 56/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96765040 | CTTATAT | C | intron_variant | MODIFIER | HG02109.hp2 HG02895.hp1 HG02896.hp1 others(4): Show |
a0004a0026 | a0004c0011a0004c0081a0026c0025 | a0004c0011t0001a0004c0081t0001a0026c0025t0001 | a0004c0011t0001g0117a0004c0011t0001g0118a0004c0011t0001g0119others(4): Show | 7 | 268 | 0.0261 | -6 | c.814 others(21): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 59/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96806159 | AATATAT | A | intron_variant | MODIFIER | HG00741.hp2 HG01081.hp2 HG01168.hp2 others(9): Show |
a0001a0002a0005others(7): Show | a0001c0001a0002c0003a0005c0004others(7): Show | a0001c0001t0001a0002c0003t0001a0005c0004t0001others(7): Show | a0001c0001t0001g0093a0002c0003t0001g0169a0002c0003t0001g0255others(9): Show | 12 | 268 | 0.0448 | -6 | c.885 others(25): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 63/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96860134 | ATTTTTT | A | intron_variant | MODIFIER | HG01109.hp1 HG01928.hp2 HG02280.hp1 others(10): Show |
a0001a0002a0007others(4): Show | a0001c0001a0002c0003a0007c0028others(5): Show | a0001c0001t0001a0002c0003t0001a0007c0028t0001others(5): Show | a0001c0001t0001g0025a0001c0001t0001g0026a0001c0001t0001g0080others(10): Show | 13 | 268 | 0.0485 | -6 | c.917 others(23): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 66/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96874626 | TATTTTA | T | intron_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG01109.hp2 others(12): Show |
a0002a0009a0018others(4): Show | a0002c0007a0002c0032a0009c0008others(5): Show | a0002c0007t0001a0002c0032t0001a0009c0008t0001others(5): Show | a0002c0007t0001g0124a0002c0007t0001g0125a0002c0007t0001g0135others(12): Show | 15 | 268 | 0.0560 | -6 | c.*15 others(21): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 67/67 | chr12 | TogoVar | ||||||
CFAP57_chr1_43167330_43259358 | 43179278 | TATAATA | T | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp2 others(112): Show |
a0002a0003a0006others(7): Show | a0002c0005a0002c0006a0002c0011others(15): Show | a0002c0005t0001a0002c0006t0001a0002c0011t0001others(15): Show | a0002c0005t0001g0012a0002c0005t0001g0014a0002c0005t0001g0016others(112): Show | 115 | 308 | 0.3734 | -6 | c.158 others(23): Show |
CFAP57 | ENSG00000243710.8 | transcript | ENST00000372492.9 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFAP57_chr1_43167330_43259358 | 43192057 | TTTGTTA | T | intron_variant | MODIFIER | HG00639.hp2 HG01069.hp2 HG01243.hp1 others(15): Show |
a0002a0022 | a0002c0006a0002c0019a0002c0028others(1): Show | a0002c0006t0001a0002c0019t0001a0002c0028t0001others(1): Show | a0002c0006t0001g0003a0002c0006t0001g0036a0002c0006t0001g0039others(15): Show | 18 | 308 | 0.0584 | -6 | c.112 others(25): Show |
CFAP57 | ENSG00000243710.8 | transcript | ENST00000372492.9 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFAP58_chr10_104348833_104460102 | 104349340 | AAGTGTC | A | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02615.hp2 HG02896.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0011a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0011t0001others(2): Show | a0001c0001t0001g0067a0001c0001t0003g0233a0001c0011t0001g0262others(2): Show | 5 | 308 | 0.0162 | -6 | c.-45 others(17): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 4492 | chr10 | TogoVar | ||||||
CFAP58_chr10_104348833_104460102 | 104364427 | AACACAC | A | intron_variant | MODIFIER | HG01109.hp1 HG02145.hp1 HG02602.hp1 others(2): Show |
a0001a0002a0013 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0003t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0263a0001c0001t0001g0289a0001c0003t0002g0191others(2): Show | 5 | 308 | 0.0162 | -6 | c.441 others(21): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CFAP58_chr10_104348833_104460102 | 104396369 | TGAGAGA | T | intron_variant | MODIFIER | HG00621.hp1 HG00733.hp1 HG02015.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0044a0001c0001t0001g0065others(5): Show | 8 | 308 | 0.0260 | -6 | c.167 others(25): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CFAP58_chr10_104348833_104460102 | 104401751 | ACTTTTT | A | intron_variant | MODIFIER | HG00323.hp2 HG02109.hp2 HG02486.hp1 others(4): Show |
a0001a0009 | a0001c0004a0009c0021 | a0001c0004t0001a0009c0021t0002 | a0001c0004t0001g0091a0001c0004t0001g0114a0001c0004t0001g0150others(4): Show | 7 | 308 | 0.0227 | -6 | c.203 others(23): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CFAP58_chr10_104348833_104460102 | 104413706 | ACATCAT | A | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 HG02922.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0096a0001c0001t0001g0186a0001c0004t0001g0068others(4): Show | 7 | 308 | 0.0227 | -6 | c.225 others(25): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |