view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 | 36275415 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02970.hp1 HG03098.hp1 others(1): Show |
a0005a0010a0038 | a0005c0005a0010c0076a0038c0072 | a0005c0005t0001a0010c0076t0001a0038c0072t0001 | a0005c0005t0001g0006 a0005c0005t0001g0009 a0010c0076t0001g0141 others(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 | a0031 | a0031c0061 | a0031c0061t0002 | a0031c0061t0002g0214 | 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(4): Show | a0001c0002a0002c0001a0003c0003others(4): Show | a0001c0002t0001a0002c0001t0001a0002c0001t0002others(5): Show | a0001c0002t0001g0011 a0001c0002t0001g0020 a0001c0002t0001g0026 others(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 |
a0001a0002a0005 | a0001c0002a0002c0001a0005c0009 | a0001c0002t0001a0002c0001t0002a0005c0009t0001 | a0001c0002t0001g0090 a0001c0002t0001g0196 a0001c0002t0001g0222 others(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 | ||||||
CFAP52_chr17_9571642_9648447 | 9596059 | G | GTATGTAT others(1): Show |
intron_variant | MODIFIER | HG02602.hp1 HG03831.hp1 NA18953.hp1 others(3): Show |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0038 a0002c0001t0001g0095 a0002c0001t0001g0112 others(3): Show |
6 | 316 | 0.0190 | 8 | c.536 others(25): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CFAP52_chr17_9571642_9648447 | 9596059 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG02055.hp1 HG02258.hp2 others(5): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001a0002c0001t0002 | a0001c0002t0001g0100 a0002c0001t0001g0053 a0002c0001t0001g0055 others(5): Show |
8 | 316 | 0.0253 | 8 | c.536 others(25): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CFAP52_chr17_9571642_9648447 | 9598760 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(169): Show |
a0001a0002a0005others(6): Show | a0001c0002a0001c0004a0001c0005others(8): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0004others(11): Show | a0001c0002t0001g0008 a0001c0002t0001g0012 a0001c0002t0001g0016 others(168): Show |
172 | 316 | 0.5443 | 8 | c.636 others(23): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CFAP52_chr17_9571642_9648447 | 9631040 | G | GAGAAAGA others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02027.hp2 HG02165.hp1 others(1): Show |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0113 a0002c0001t0001g0116 a0002c0001t0001g0148 others(1): Show |
4 | 316 | 0.0127 | 8 | c.117 others(27): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CFAP52_chr17_9571642_9648447 | 9636179 | A | AAAAGAAA others(1): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02258.hp1 HG03195.hp2 others(7): Show |
a0001a0002a0010others(1): Show | a0001c0002a0002c0001a0010c0016others(1): Show | a0001c0002t0001a0002c0001t0001a0002c0001t0002others(3): Show | a0001c0002t0001g0024 a0001c0002t0001g0052 a0001c0002t0001g0094 others(7): Show |
10 | 316 | 0.0317 | 8 | c.147 others(25): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CFAP52_chr17_9571642_9648447 | 9647848 | C | CAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 HG02615.hp2 HG02630.hp1 others(3): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0004 | a0001c0002t0001g0026 a0001c0002t0001g0257 a0001c0002t0001g0278 others(2): Show |
6 | 316 | 0.0190 | 8 | c.*46 others(19): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 4402 | chr17 | TogoVar | |||||||
CFAP53_chr18_50222193_50271495 | 50227955 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02559.hp2 HG02615.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0106 a0001c0001t0001g0184 others(2): Show |
6 | 402 | 0.0149 | 8 | c.131 others(25): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 7/7 | chr18 | TogoVar | |||||||
CFAP53_chr18_50222193_50271495 | 50237351 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG03098.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 a0001c0001t0001g0274 a0001c0001t0001g0301 others(3): Show |
6 | 402 | 0.0149 | 8 | c.131 others(27): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 7/7 | chr18 | TogoVar | |||||||
CFAP54_chr12_96484577_96880555 | 96486137 | T | TTTTCTTT others(1): Show |
upstream_gene_variant | MODIFIER | HG01496.hp1 HG01993.hp1 HG02258.hp2 others(3): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0002a0004c0005others(1): Show | a0001c0001t0001a0003c0002t0001a0004c0005t0001others(1): Show | a0001c0001t0001g0064 a0001c0001t0001g0087 a0003c0002t0001g0228 others(3): Show |
6 | 268 | 0.0224 | 8 | c.-34 others(19): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 3439 | chr12 | TogoVar | |||||||
CFAP54_chr12_96484577_96880555 | 96486932 | A | ATTATTTA others(1): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG01071.hp1 HG01099.hp2 others(33): Show |
a0001a0004a0005others(10): Show | a0001c0001a0001c0012a0004c0005others(13): Show | a0001c0001t0001a0001c0012t0001a0004c0005t0001others(13): Show | a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0026 others(33): Show |
36 | 268 | 0.1343 | 8 | c.-26 others(19): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 2644 | chr12 | TogoVar | |||||||
CFAP54_chr12_96484577_96880555 | 96495238 | C | CTCCTTCC others(1): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03041.hp1 NA19240.hp1 |
a0003a0047a0060 | a0003c0002a0047c0096a0060c0061 | a0003c0002t0001a0047c0096t0001a0060c0061t0001 | a0003c0002t0001g0216 a0047c0096t0001g0252 a0060c0061t0001g0017 |
3 | 268 | 0.0112 | 8 | c.317 others(25): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 1/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96507534 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01081.hp2 HG01099.hp1 others(12): Show |
a0008a0011a0025others(2): Show | a0008c0008a0011c0013a0025c0066others(2): Show | a0008c0008t0001a0011c0013t0001a0025c0066t0001others(2): Show | a0008c0008t0001g0197 a0008c0008t0001g0198 a0008c0008t0001g0199 others(12): Show |
15 | 268 | 0.0560 | 8 | c.739 others(23): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 4/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96512301 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG00673.hp1 HG03669.hp1 HG03688.hp1 others(4): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0012a0002c0003others(3): Show | a0001c0001t0001a0001c0012t0001a0002c0003t0001others(3): Show | a0001c0001t0001g0073 a0001c0001t0001g0095 a0001c0012t0001g0072 others(4): Show |
7 | 268 | 0.0261 | 8 | c.740 others(23): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 4/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96535008 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02258.hp2 HG03098.hp1 others(1): Show |
a0002a0003a0004others(1): Show | a0002c0003a0003c0002a0004c0011others(1): Show | a0002c0003t0001a0003c0002t0001a0004c0011t0001others(1): Show | a0002c0003t0001g0168 a0003c0002t0001g0228 a0004c0011t0001g0119 others(1): Show |
4 | 268 | 0.0149 | 8 | c.170 others(25): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 11/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96539064 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00741.hp1 others(8): Show |
a0003a0010a0013 | a0003c0002a0003c0016a0003c0072others(3): Show | a0003c0002t0001a0003c0002t0004a0003c0016t0001others(4): Show | a0003c0002t0001g0215 a0003c0002t0001g0239 a0003c0002t0001g0240 others(8): Show |
11 | 268 | 0.0410 | 8 | c.192 others(25): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 13/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96551485 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01891.hp2 HG01952.hp1 HG02145.hp1 others(1): Show |
a0002a0005a0015others(1): Show | a0002c0007a0005c0020a0015c0030others(1): Show | a0002c0007t0001a0005c0020t0001a0015c0030t0003others(1): Show | a0002c0007t0001g0125 a0005c0020t0001g0250 a0015c0030t0003g0192 others(1): Show |
4 | 268 | 0.0149 | 8 | c.215 others(27): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 15/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96621875 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01517.hp1 HG02109.hp1 others(4): Show |
a0002a0028a0055 | a0002c0003a0028c0095a0055c0089 | a0002c0003t0001a0002c0003t0002a0028c0095t0001others(1): Show | a0002c0003t0001g0139 a0002c0003t0001g0168 a0002c0003t0001g0256 others(4): Show |
7 | 268 | 0.0261 | 8 | c.377 others(25): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 27/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96664622 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01928.hp2 HG02109.hp2 HG02630.hp1 others(5): Show |
a0004a0005a0009others(3): Show | a0004c0011a0005c0004a0009c0077others(3): Show | a0004c0011t0001a0005c0004t0001a0009c0077t0001others(3): Show | a0004c0011t0001g0117 a0004c0011t0001g0119 a0005c0004t0001g0108 others(5): Show |
8 | 268 | 0.0299 | 8 | c.556 others(25): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 39/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96664781 | A | ATCTATAT others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01192.hp1 HG03669.hp1 others(1): Show |
a0007a0010 | a0007c0009a0007c0056a0010c0017others(1): Show | a0007c0009t0001a0007c0056t0001a0010c0017t0001others(1): Show | a0007c0009t0001g0028 a0007c0056t0001g0020 a0010c0017t0001g0262 others(1): Show |
4 | 268 | 0.0149 | 8 | c.556 others(25): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 39/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96752085 | T | TGAGAGAG others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00438.hp2 others(18): Show |
a0001a0002a0005others(6): Show | a0001c0001a0001c0012a0002c0003others(12): Show | a0001c0001t0001a0001c0012t0001a0002c0003t0001others(13): Show | a0001c0001t0001g0035 a0001c0001t0001g0056 a0001c0001t0001g0058 others(18): Show |
21 | 268 | 0.0784 | 8 | c.768 others(27): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 55/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96770188 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02451.hp2 HG03139.hp1 others(2): Show |
a0001a0005 | a0001c0001a0005c0015 | a0001c0001t0001a0005c0015t0001 | a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 others(2): Show |
5 | 268 | 0.0187 | 8 | c.828 others(27): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 60/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96806159 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG04204.hp1 NA18612.hp1 NA18942.hp2 others(2): Show |
a0001a0008a0025 | a0001c0001a0008c0008a0025c0031 | a0001c0001t0001a0008c0008t0001a0025c0031t0001 | a0001c0001t0001g0068 a0001c0001t0001g0165 a0001c0001t0001g0166 others(2): Show |
5 | 268 | 0.0187 | 8 | c.885 others(27): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 63/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96806213 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG01358.hp1 HG01496.hp1 HG02071.hp1 others(5): Show |
a0002a0003a0004others(2): Show | a0002c0003a0003c0002a0004c0005others(3): Show | a0002c0003t0001a0003c0002t0001a0004c0005t0001others(3): Show | a0002c0003t0001g0133 a0002c0003t0001g0159 a0003c0002t0001g0226 others(5): Show |
8 | 268 | 0.0299 | 8 | c.885 others(27): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 63/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96833507 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02258.hp1 HG02622.hp1 others(7): Show |
a0002a0003a0004others(3): Show | a0002c0003a0003c0073a0004c0082others(3): Show | a0002c0003t0001a0002c0003t0002a0003c0073t0001others(4): Show | a0002c0003t0001g0169 a0002c0003t0002g0172 a0002c0003t0002g0173 others(7): Show |
10 | 268 | 0.0373 | 8 | c.917 others(27): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 66/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96863153 | T | TTGGATGG others(1): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02735.hp2 HG03209.hp2 others(2): Show |
a0001a0002a0043others(1): Show | a0001c0001a0001c0012a0002c0003others(2): Show | a0001c0001t0001a0001c0012t0001a0002c0003t0001others(2): Show | a0001c0001t0001g0080 a0001c0012t0001g0034 a0002c0003t0001g0121 others(2): Show |
5 | 268 | 0.0187 | 8 | c.*14 others(25): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 67/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP57_chr1_43167330_43259358 | 43219955 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01928.hp1 HG01934.hp2 others(25): Show |
a0001a0002a0007others(2): Show | a0001c0001a0002c0005a0002c0011others(3): Show | a0001c0001t0001a0002c0005t0001a0002c0011t0001others(3): Show | a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 others(25): Show |
28 | 308 | 0.0909 | 8 | c.224 others(25): Show |
CFAP57 | ENSG00000243710.8 | transcript | ENST00000372492.9 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFAP58_chr10_104348833_104460102 | 104357877 | G | GTACATAT others(1): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02040.hp1 NA18956.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 others(3): Show |
6 | 308 | 0.0195 | 8 | c.10- others(21): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CFAP58_chr10_104348833_104460102 | 104357950 | T | TATACACA others(1): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02717.hp1 HG03209.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 others(1): Show |
4 | 308 | 0.0130 | 8 | c.10- others(21): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CFAP58_chr10_104348833_104460102 | 104383768 | A | ACACACAC others(1): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01891.hp1 HG01891.hp2 others(10): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0241 others(10): Show |
13 | 308 | 0.0422 | 8 | c.136 others(27): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CFAP58_chr10_104348833_104460102 | 104399175 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG03139.hp2 NA18946.hp2 NA18953.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0017 a0001c0001t0001g0186 a0001c0001t0001g0212 others(2): Show |
5 | 308 | 0.0162 | 8 | 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 | 104450669 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(41): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(3): Show | a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0167 others(40): Show |
44 | 308 | 0.1429 | 8 | c.251 others(25): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CFAP58_chr10_104348833_104460102 | 104453761 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02280.hp1 HG02486.hp1 others(15): Show |
a0001a0002a0011 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0003t0002a0001c0004t0001others(3): Show | a0001c0001t0001g0009 a0001c0001t0001g0056 a0001c0001t0001g0059 others(15): Show |
18 | 308 | 0.0584 | 8 | c.251 others(25): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CFAP58_chr10_104348833_104460102 | 104458624 | A | ATATAGAT others(1): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG01123.hp2 HG01891.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0300 a0002c0002t0001g0037 a0002c0002t0001g0040 others(2): Show |
5 | 308 | 0.0162 | 8 | c.*40 others(19): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 3523 | chr10 | TogoVar | |||||||
CFAP58_chr10_104348833_104460102 | 104458624 | A | ATATATAT others(1): Show |
downstream_gene_variant | MODIFIER | HG01433.hp1 HG02572.hp1 HG02630.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0001a0001c0004t0001 | a0001c0001t0001g0044 a0001c0001t0001g0098 a0001c0003t0001g0294 others(1): Show |
4 | 308 | 0.0130 | 8 | c.*40 others(19): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 3523 | chr10 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20054412 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00558.hp1 others(45): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0003a0001c0006others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0028 a0001c0001t0001g0040 a0001c0001t0002g0036 others(45): Show |
48 | 236 | 0.2034 | 8 | c.-37 others(25): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20099127 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG01071.hp1 others(55): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0003a0002c0002others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0040 a0001c0001t0001g0154 a0001c0001t0001g0157 others(55): Show |
58 | 236 | 0.2458 | 8 | c.859 others(23): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 8/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20106000 | C | CTATACAT others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02056.hp2 HG02293.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0006a0002c0002t0001others(2): Show | a0001c0001t0001g0154 a0001c0001t0006g0019 a0002c0002t0001g0234 others(2): Show |
5 | 236 | 0.0212 | 8 | c.859 others(25): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 8/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20106000 | C | CTATATAT others(1): Show |
intron_variant | MODIFIER | HG02602.hp1 HG02895.hp2 HG02897.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0001 | a0001c0001t0005g0126 a0001c0001t0005g0129 a0002c0002t0001g0041 |
3 | 236 | 0.0127 | 8 | c.859 others(25): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 8/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20118253 | G | GTTCCTTT others(1): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01934.hp1 HG01943.hp2 others(10): Show |
a0001a0022 | a0001c0001a0001c0024a0022c0019 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0040 a0001c0001t0001g0162 a0001c0001t0001g0163 others(10): Show |
13 | 236 | 0.0551 | 8 | c.859 others(27): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 8/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20118253 | G | GTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00639.hp2 HG00738.hp2 others(15): Show |
a0001a0002a0014 | a0001c0001a0001c0006a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0006t0001others(8): Show | a0001c0001t0001g0178 a0001c0001t0003g0053 a0001c0006t0001g0220 others(15): Show |
18 | 236 | 0.0763 | 8 | c.859 others(27): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 8/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20181276 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(98): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0003a0001c0006others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0028 a0001c0001t0001g0079 a0001c0001t0001g0082 others(98): Show |
101 | 236 | 0.4280 | 8 | c.138 others(27): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 13/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20269146 | T | TATACACA others(1): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03139.hp1 HG03579.hp1 |
a0001 | a0001c0001a0001c0024 | a0001c0001t0003a0001c0024t0008 | a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0024t0008g0176 |
3 | 236 | 0.0127 | 8 | c.250 others(27): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20269146 | T | TATATACA others(1): Show |
intron_variant | MODIFIER | HG02451.hp1 NA19030.hp1 |
a0010a0020 | a0010c0017a0020c0038 | a0010c0017t0002a0020c0038t0001 | a0010c0017t0002g0121 a0020c0038t0001g0113 |
2 | 236 | 0.0085 | 8 | c.250 others(27): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20269164 | C | CACACACA others(1): Show |
intron_variant | MODIFIER | HG02615.hp1 NA18942.hp1 NA20905.hp1 |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0003t0003a0002c0002t0004 | a0001c0001t0002g0158 a0001c0003t0003g0175 a0002c0002t0004g0001 |
3 | 236 | 0.0127 | 8 | c.250 others(27): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |