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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEP57L1_chr6_109090507_109179418 | 109120905 | GACACACG others(13): Show |
G | intron_variant | MODIFIER | HG02572.hp1 HG03225.hp1 HG03540.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0027a0001c0001t0028 | a0001c0001t0012g0218a0001c0001t0012g0219a0001c0001t0012g0220others(2): Show | 5 | 228 | 0.0219 | -20 | c.-3- others(37): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP57L1_chr6_109090507_109179418 | 109136700 | TTTTTATT others(13): Show |
T | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0164 | 1 | 228 | 0.0044 | -20 | c.-3- others(35): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP57L1_chr6_109090507_109179418 | 109142946 | GCTCTCTC others(13): Show |
G | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG01192.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0010a0001c0001t0017others(4): Show | a0001c0001t0006g0167a0001c0001t0010g0002a0001c0001t0010g0094others(5): Show | 9 | 228 | 0.0395 | -20 | c.-3- others(35): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP57L1_chr6_109090507_109179418 | 109152636 | CGTGTGTG others(13): Show |
C | intron_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0002 | a0002c0002t0030 | a0002c0002t0030g0211 | 1 | 228 | 0.0044 | -20 | c.463 others(37): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP57L1_chr6_109090507_109179418 | 109177637 | AATATATA others(13): Show |
A | downstream_gene_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0171 | 1 | 228 | 0.0044 | -20 | c.*14 others(33): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 3220 | chr6 | TogoVar | ||||||
CEP57L1_chr6_109090507_109179418 | 109178673 | CAAAAAAA others(13): Show |
C | downstream_gene_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0059 | 1 | 228 | 0.0044 | -20 | c.*15 others(33): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 4256 | chr6 | TogoVar | ||||||
CEP63_chr3_134481057_134570031 | 134494092 | ATATTTAT others(13): Show |
A | intron_variant | MODIFIER | NA18940.hp2 NA18951.hp2 NA18960.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0120a0001c0001t0005g0122a0001c0001t0005g0123others(5): Show | 8 | 322 | 0.0248 | -20 | c.-25 others(37): Show |
CEP63 | ENSG00000182923.20 | transcript | ENST00000675561.1 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CEP68_chr2_65051416_65092004 | 65070586 | AACAGAGG others(13): Show |
A | intron_variant | MODIFIER | NA19005.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0082 | 1 | 360 | 0.0028 | -20 | c.357 others(35): Show |
CEP68 | ENSG00000011523.15 | transcript | ENST00000377990.7 | protein_coding | 2/6 | chr2 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118496356 | TTTTTATT others(13): Show |
T | intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 302 | 0.0033 | -20 | c.125 others(39): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 5/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118567233 | GTGTGTGT others(13): Show |
G | intron_variant | MODIFIER | HG01261.hp2 HG03942.hp2 |
a0004 | a0004c0004 | a0004c0004t0006 | a0004c0004t0006g0042a0004c0004t0006g0043 | 2 | 302 | 0.0066 | -20 | c.233 others(35): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118567235 | GTGTGTGT others(13): Show |
G | intron_variant | MODIFIER | HG02572.hp1 | a0006 | a0006c0006 | a0006c0006t0009 | a0006c0006t0009g0289 | 1 | 302 | 0.0033 | -20 | c.233 others(35): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118567239 | GTGTGTGT others(13): Show |
G | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01175.hp1 others(2): Show |
a0002a0006 | a0002c0002a0006c0006 | a0002c0002t0002a0006c0006t0009 | a0002c0002t0002g0195a0002c0002t0002g0233a0002c0002t0002g0240others(2): Show | 5 | 302 | 0.0166 | -20 | c.233 others(35): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118567241 | GTGTGTGT others(13): Show |
G | intron_variant | MODIFIER | HG02717.hp2 NA20300.hp2 |
a0005 | a0005c0005 | a0005c0005t0008 | a0005c0005t0008g0252a0005c0005t0008g0287 | 2 | 302 | 0.0066 | -20 | c.233 others(35): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118567243 | GTGTGTGT others(13): Show |
G | intron_variant | MODIFIER | HG01255.hp2 | a0005 | a0005c0005 | a0005c0005t0008 | a0005c0005t0008g0286 | 1 | 302 | 0.0033 | -20 | c.233 others(35): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
CEP89_chr19_32870925_32976958 | 32892202 | CATATATA others(13): Show |
C | intron_variant | MODIFIER | HG01123.hp2 HG01175.hp2 HG02055.hp1 others(19): Show |
a0001a0002a0003others(2): Show | a0001c0002a0002c0001a0003c0003others(4): Show | a0001c0002t0024a0001c0002t0043a0002c0001t0025others(5): Show | a0001c0002t0024g0072a0001c0002t0043g0118a0002c0001t0025g0148others(19): Show | 22 | 386 | 0.0570 | -20 | c.187 others(39): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 16/18 | chr19 | TogoVar | ||||||
CEP95_chr17_64501977_64542946 | 64541703 | ACATTTCC others(13): Show |
A | downstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0131 | 1 | 248 | 0.0040 | -20 | c.*39 others(31): Show |
CEP95 | ENSG00000258890.8 | transcript | ENST00000556440.7 | protein_coding | 3758 | chr17 | TogoVar | ||||||
CEP97_chr3_101719614_101775562 | 101730231 | TTTTTGTT others(13): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp2 HG02280.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0108a0001c0001t0002g0310a0001c0001t0004g0013others(11): Show | 16 | 352 | 0.0455 | -20 | c.447 others(37): Show |
CEP97 | ENSG00000182504.12 | transcript | ENST00000341893.8 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CEPT1_chr1_111135223_111190104 | 111154187 | GTATTTTA others(13): Show |
G | intron_variant | MODIFIER | HG00741.hp1 HG01099.hp1 HG01167.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(2): Show | a0001c0001t0001g0027a0001c0001t0001g0067a0001c0001t0001g0097others(9): Show | 13 | 410 | 0.0317 | -20 | c.340 others(37): Show |
CEPT1 | ENSG00000134255.16 | transcript | ENST00000357172.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CER1_chr9_14714724_14727733 | 14719527 | GTGCCTGC others(13): Show |
G | downstream_gene_variant | MODIFIER | HG02257.hp1 NA19240.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0018 | 2 | 460 | 0.0044 | -20 | c.*54 others(29): Show |
CER1 | ENSG00000147869.5 | transcript | ENST00000380911.4 | protein_coding | 196 | chr9 | TogoVar | ||||||
CER1_chr9_14714724_14727733 | 14719549 | GCCTGCCT others(13): Show |
G | downstream_gene_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0007 | 1 | 460 | 0.0022 | -20 | c.*52 others(29): Show |
CER1 | ENSG00000147869.5 | transcript | ENST00000380911.4 | protein_coding | 174 | chr9 | TogoVar | ||||||
CER1_chr9_14714724_14727733 | 14719553 | GCCTGCCT others(13): Show |
G | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG00609.hp1 others(38): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0017a0003c0003t0001g0003others(2): Show | 41 | 460 | 0.0891 | -20 | c.*51 others(29): Show |
CER1 | ENSG00000147869.5 | transcript | ENST00000380911.4 | protein_coding | 170 | chr9 | TogoVar | ||||||
CER1_chr9_14714724_14727733 | 14719557 | GCCTGCCT others(13): Show |
G | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02572.hp2 HG02895.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0007 | a0001c0001t0001g0001a0002c0002t0001g0002a0002c0002t0007g0030 | 7 | 460 | 0.0152 | -20 | c.*51 others(29): Show |
CER1 | ENSG00000147869.5 | transcript | ENST00000380911.4 | protein_coding | 166 | chr9 | TogoVar | ||||||
CERKL_chr2_181531672_181662105 | 181639968 | CTAGGAAT others(13): Show |
C | intron_variant | MODIFIER | HG03453.hp2 | a0004 | a0004c0007 | a0004c0007t0008 | a0004c0007t0008g0093 | 1 | 298 | 0.0034 | -20 | c.238 others(39): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
CERKL_chr2_181531672_181662105 | 181650103 | GAGGGAGG others(13): Show |
G | intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0156 | 1 | 298 | 0.0034 | -20 | c.238 others(37): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
CERK_chr22_46679410_46743252 | 46680701 | TCCATCCA others(13): Show |
T | downstream_gene_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0096 | 1 | 340 | 0.0029 | -20 | c.*64 others(31): Show |
CERK | ENSG00000100422.14 | transcript | ENST00000216264.13 | protein_coding | 3708 | chr22 | TogoVar | ||||||
CERK_chr22_46679410_46743252 | 46680725 | CCCATCCA others(13): Show |
C | downstream_gene_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0288 | 1 | 340 | 0.0029 | -20 | c.*63 others(31): Show |
CERK | ENSG00000100422.14 | transcript | ENST00000216264.13 | protein_coding | 3684 | chr22 | TogoVar | ||||||
CERS3_chr15_100395395_100533950 | 100399453 | TTTATCTG others(13): Show |
T | downstream_gene_variant | MODIFIER | HG02886.hp2 | a0008 | a0008c0013 | a0008c0013t0029 | a0008c0013t0029g0134 | 1 | 362 | 0.0028 | -20 | c.*32 others(31): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 941 | chr15 | TogoVar | ||||||
CERS3_chr15_100395395_100533950 | 100439402 | TGTATTCT others(13): Show |
T | intron_variant | MODIFIER | HG02723.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0055 | 1 | 362 | 0.0028 | -20 | c.999 others(39): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 11/11 | chr15 | TogoVar | ||||||
CERS3_chr15_100395395_100533950 | 100494239 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp1 HG00642.hp2 others(52): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0154a0001c0001t0001g0270a0001c0001t0001g0275others(52): Show | 55 | 362 | 0.1519 | -20 | c.174 others(37): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 3/11 | chr15 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8249079 | TAGACAGA others(13): Show |
T | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0088 | 1 | 418 | 0.0024 | -20 | c.-1- others(35): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 2/11 | chr19 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168477173 | CAGAGAGA others(13): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01099.hp1 HG01255.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0147a0001c0001t0001g0148a0001c0001t0001g0153others(9): Show | 12 | 176 | 0.0682 | -20 | c.170 others(39): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CERS6_chr2_168451272_168780134 | 168574370 | TTGTGTGT others(13): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00558.hp1 others(100): Show |
a0001a0002a0003 | a0001c0001a0002c0005a0003c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0019a0001c0001t0001g0027a0001c0001t0001g0035others(100): Show | 103 | 176 | 0.5852 | -20 | c.407 others(39): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CERS6_chr2_168451272_168780134 | 168620044 | CACACACA others(13): Show |
C | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0121 | 1 | 176 | 0.0057 | -20 | c.408 others(39): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CERS6_chr2_168451272_168780134 | 168645138 | TATATAGA others(13): Show |
T | intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 176 | 0.0057 | -20 | c.465 others(39): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CERS6_chr2_168451272_168780134 | 168746775 | GTATATAT others(13): Show |
G | intron_variant | MODIFIER | NA18955.hp1 NA18998.hp2 NA19000.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0026 | a0001c0001t0001g0056a0001c0001t0001g0094a0001c0001t0026g0152 | 3 | 176 | 0.0171 | -20 | c.846 others(39): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CERS6_chr2_168451272_168780134 | 168746802 | TATATATA others(13): Show |
T | intron_variant | MODIFIER | HG02630.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0078a0001c0001t0014g0176 | 2 | 176 | 0.0114 | -20 | c.846 others(39): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CES1_chr16_55797851_55838096 | 55798416 | GGAAGGAA others(13): Show |
G | downstream_gene_variant | MODIFIER | HG03209.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0002 | 1 | 87 | 0.0115 | -20 | c.*46 others(31): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 4434 | chr16 | TogoVar | ||||||
CES1_chr16_55797851_55838096 | 55798420 | GGAAGGAA others(13): Show |
G | downstream_gene_variant | MODIFIER | HG01891.hp1 | a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0039 | 1 | 87 | 0.0115 | -20 | c.*46 others(31): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 4430 | chr16 | TogoVar | ||||||
CES1_chr16_55797851_55838096 | 55798424 | GGAAAGAA others(13): Show |
G | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG01071.hp1 others(23): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0002others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0019others(23): Show | 26 | 87 | 0.2989 | -20 | c.*46 others(31): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 4426 | chr16 | TogoVar | ||||||
CES4A_chr16_66983589_67015417 | 66997948 | AACACACA others(13): Show |
A | intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0109 | 1 | 306 | 0.0033 | -20 | c.260 others(37): Show |
CES4A | ENSG00000172824.17 | transcript | ENST00000648724.3 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CETN2_chrX_152821994_152835757 | 152831795 | GCTATCCC others(13): Show |
G | upstream_gene_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 321 | 0.0031 | -20 | c.-11 others(31): Show |
CETN2 | ENSG00000147400.10 | transcript | ENST00000370277.5 | protein_coding | 1039 | chrX | TogoVar | ||||||
CETP_chr16_56956950_56988845 | 56959938 | GGAAAGAA others(13): Show |
G | upstream_gene_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0286 | 1 | 462 | 0.0022 | -20 | c.-20 others(31): Show |
CETP | ENSG00000087237.12 | transcript | ENST00000200676.8 | protein_coding | 2011 | chr16 | TogoVar | ||||||
CETP_chr16_56956950_56988845 | 56963990 | TTTTATTT others(13): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG02717.hp2 others(11): Show |
a0001a0002 | a0001c0010a0002c0005a0002c0014 | a0001c0010t0001a0002c0005t0001a0002c0014t0001 | a0001c0010t0001g0211a0001c0010t0001g0212a0001c0010t0001g0215others(8): Show | 14 | 462 | 0.0303 | -20 | c.233 others(35): Show |
CETP | ENSG00000087237.12 | transcript | ENST00000200676.8 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CFAP100_chr3_126389909_126441556 | 126401397 | TTATATAT others(13): Show |
T | intron_variant | MODIFIER | HG01993.hp1 HG01993.hp2 NA18950.hp1 others(2): Show |
a0001a0017 | a0001c0001a0001c0023a0017c0019 | a0001c0001t0001a0001c0023t0001a0017c0019t0001 | a0001c0001t0001g0171a0001c0001t0001g0360a0001c0001t0001g0361others(2): Show | 5 | 422 | 0.0119 | -20 | c.49+ others(35): Show |
CFAP100 | ENSG00000163885.12 | transcript | ENST00000352312.6 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CFAP141_chr1_154194085_154211333 | 154203172 | AATATATA others(13): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02896.hp2 HG02897.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0020a0001c0001t0001g0040a0001c0001t0001g0131others(2): Show | 10 | 372 | 0.0269 | -20 | c.74+ others(35): Show |
CFAP141 | ENSG00000163263.7 | transcript | ENST00000368525.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
CFAP161_chr15_81129270_81154179 | 81133176 | CATATATA others(13): Show |
C | upstream_gene_variant | MODIFIER | HG00741.hp1 HG01978.hp1 HG02602.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0041a0001c0001t0001g0047others(5): Show | 9 | 448 | 0.0201 | -20 | c.-11 others(31): Show |
CFAP161 | ENSG00000156206.14 | transcript | ENST00000286732.5 | protein_coding | 1093 | chr15 | TogoVar | ||||||
CFAP161_chr15_81129270_81154179 | 81133205 | ATATATAT others(13): Show |
A | upstream_gene_variant | MODIFIER | HG00642.hp1 HG01074.hp2 HG01257.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0013others(12): Show | 17 | 448 | 0.0380 | -20 | c.-11 others(31): Show |
CFAP161 | ENSG00000156206.14 | transcript | ENST00000286732.5 | protein_coding | 1064 | chr15 | TogoVar | ||||||
CFAP161_chr15_81129270_81154179 | 81133209 | ATATATAT others(13): Show |
A | upstream_gene_variant | MODIFIER | HG01081.hp2 HG03654.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124a0001c0001t0001g0129 | 2 | 448 | 0.0045 | -20 | c.-11 others(31): Show |
CFAP161 | ENSG00000156206.14 | transcript | ENST00000286732.5 | protein_coding | 1060 | chr15 | TogoVar | ||||||
CFAP161_chr15_81129270_81154179 | 81146831 | AATATATA others(13): Show |
A | intron_variant | MODIFIER | HG02040.hp2 NA19010.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136a0001c0001t0001g0285 | 2 | 448 | 0.0045 | -20 | c.637 others(35): Show |
CFAP161 | ENSG00000156206.14 | transcript | ENST00000286732.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CFAP161_chr15_81129270_81154179 | 81146920 | AAGGAAAT others(13): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp2 HG02717.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0012a0001c0001t0006g0272 | 4 | 448 | 0.0089 | -20 | c.637 others(35): Show |
CFAP161 | ENSG00000156206.14 | transcript | ENST00000286732.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |