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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IFNAR1_chr21_33319970_33364864 | 33322847 | T | TATATGTA others(4): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0170 | 1 | 323 | 0.0031 | 11 | c.-22 others(22): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2122 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322975 | A | ATGGAATA others(4): Show |
upstream_gene_variant | MODIFIER | NA19084.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0228 | 1 | 323 | 0.0031 | 11 | c.-20 others(22): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1994 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323052 | T | TATATATA others(4): Show |
upstream_gene_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 323 | 0.0031 | 11 | c.-20 others(22): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1917 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323059 | A | ATGGAATA others(4): Show |
upstream_gene_variant | MODIFIER | HG03490.hp1 HG03492.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0238a0002c0002t0002g0239 | 2 | 323 | 0.0062 | 11 | c.-19 others(22): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1910 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323087 | A | ATGGAATA others(4): Show |
upstream_gene_variant | MODIFIER | HG02074.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0206 | 1 | 323 | 0.0031 | 11 | c.-19 others(22): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1882 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323136 | T | TATATATA others(4): Show |
upstream_gene_variant | MODIFIER | HG01106.hp2 HG02486.hp1 HG02622.hp2 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0003a0001c0001t0022a0001c0005t0013 | a0001c0001t0003g0012a0001c0001t0022g0120a0001c0005t0013g0086others(1): Show | 4 | 323 | 0.0124 | 11 | c.-19 others(22): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1833 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323138 | T | TATATATA others(4): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG01168.hp2 HG01169.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0152a0001c0001t0001g0157others(7): Show | 12 | 323 | 0.0372 | 11 | c.-19 others(22): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1831 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323144 | T | TGGAATAT others(4): Show |
upstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0096 | 1 | 323 | 0.0031 | 11 | c.-19 others(22): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1825 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323151 | T | TATATATA others(4): Show |
upstream_gene_variant | MODIFIER | HG02602.hp1 HG02965.hp1 NA19068.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0005a0002c0002t0002 | a0001c0001t0003g0012a0001c0001t0005g0114a0002c0002t0002g0029 | 3 | 323 | 0.0093 | 11 | c.-19 others(22): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1818 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323179 | T | TATATATA others(4): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 HG02647.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0044a0001c0001t0045 | a0001c0001t0020g0020a0001c0001t0044g0020a0001c0001t0045g0129 | 3 | 323 | 0.0093 | 11 | c.-18 others(22): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1790 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323179 | T | TATATATG others(4): Show |
upstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0241 | 1 | 323 | 0.0031 | 11 | c.-18 others(22): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1790 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323263 | T | TATAGAGA others(4): Show |
upstream_gene_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 323 | 0.0031 | 11 | c.-17 others(22): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1706 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323402 | G | GATGGAAT others(4): Show |
upstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0133 | 1 | 323 | 0.0031 | 11 | c.-16 others(22): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1567 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323428 | G | GATGGAAT others(4): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG01167.hp1 HG01169.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0022others(11): Show | 20 | 323 | 0.0619 | 11 | c.-16 others(22): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1541 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323441 | G | GATGGAAT others(4): Show |
upstream_gene_variant | MODIFIER | HG01069.hp1 HG01069.hp2 HG01071.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0158others(3): Show | 7 | 323 | 0.0217 | 11 | c.-16 others(22): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1528 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323454 | G | GATGGAAT others(4): Show |
upstream_gene_variant | MODIFIER | HG01257.hp1 HG01261.hp2 HG01981.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0011others(6): Show | 10 | 323 | 0.0310 | 11 | c.-16 others(22): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1515 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323572 | T | TATATATA others(4): Show |
upstream_gene_variant | MODIFIER | HG02970.hp2 | a0003 | a0003c0003 | a0003c0003t0031 | a0003c0003t0031g0109 | 1 | 323 | 0.0031 | 11 | c.-14 others(22): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1397 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323578 | G | GATGGAAT others(4): Show |
upstream_gene_variant | MODIFIER | HG00609.hp1 HG01257.hp1 HG01261.hp2 others(20): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0011a0001c0001t0034others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0008a0001c0001t0001g0014others(18): Show | 23 | 323 | 0.0712 | 11 | c.-14 others(22): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1391 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323604 | G | GATGGAAT others(4): Show |
upstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0096 | 1 | 323 | 0.0031 | 11 | c.-14 others(22): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1365 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323604 | G | GATGGAAT others(4): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 HG01358.hp1 HG01496.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015a0001c0001t0018 | a0001c0001t0001g0016a0001c0001t0001g0087a0001c0001t0001g0090others(4): Show | 8 | 323 | 0.0248 | 11 | c.-14 others(22): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1365 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323604 | G | GATGGAAT others(4): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG01109.hp1 HG01978.hp2 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0002others(2): Show | a0001c0001t0001g0183a0001c0001t0003g0026a0001c0001t0003g0173others(16): Show | 21 | 323 | 0.0650 | 11 | c.-14 others(22): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1365 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323689 | G | GATGGAAT others(4): Show |
upstream_gene_variant | MODIFIER | HG01257.hp1 HG01261.hp2 HG01981.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0008a0001c0001t0001g0145a0001c0001t0001g0149others(3): Show | 6 | 323 | 0.0186 | 11 | c.-13 others(22): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1280 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323702 | G | GATGGAAT others(4): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 HG02071.hp2 HG02129.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0003a0002c0002t0002a0002c0004t0002others(1): Show | a0001c0001t0003g0174a0002c0002t0002g0006a0002c0002t0002g0009others(8): Show | 15 | 323 | 0.0464 | 11 | c.-13 others(22): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1267 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323715 | G | GATGGAAT others(4): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG01515.hp1 HG01975.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0018 | a0001c0001t0003g0012a0001c0001t0003g0026a0001c0001t0003g0032others(9): Show | 15 | 323 | 0.0464 | 11 | c.-13 others(22): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1254 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323761 | T | TATAGAGA others(4): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 HG02572.hp2 HG02896.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0035a0001c0001t0036 | a0001c0001t0012g0137a0001c0001t0012g0138a0001c0001t0012g0139others(3): Show | 6 | 323 | 0.0186 | 11 | c.-12 others(22): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1208 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323793 | G | GATGGAAT others(4): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG01515.hp1 HG01975.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0018 | a0001c0001t0003g0012a0001c0001t0003g0026a0001c0001t0003g0032others(7): Show | 13 | 323 | 0.0403 | 11 | c.-12 others(22): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1176 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323878 | G | GATGGAAT others(4): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG01257.hp1 HG01261.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0008others(13): Show | 18 | 323 | 0.0557 | 11 | c.-11 others(22): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1091 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323880 | T | TGGAATAG others(4): Show |
upstream_gene_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0156 | 1 | 323 | 0.0031 | 11 | c.-11 others(22): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1089 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33361634 | C | CTTTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | HG00609.hp2 | a0002 | a0002c0002 | a0002c0002t0026 | a0002c0002t0026g0210 | 1 | 323 | 0.0031 | 11 | c.*60 others(22): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1771 | chr21 | TogoVar | ||||||
IFNAR2_chr21_33224938_33270664 | 33234224 | T | TGTGTGTG others(4): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0155 | 1 | 424 | 0.0024 | 11 | c.-84 others(28): Show |
IFNAR2 | ENSG00000159110.22 | transcript | ENST00000342136.9 | protein_coding | 1/8 | chr21 | TogoVar | ||||||
IFNAR2_chr21_33224938_33270664 | 33247254 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 HG02965.hp2 |
a0002a0005 | a0002c0002a0005c0005 | a0002c0002t0004a0005c0005t0004 | a0002c0002t0004g0120a0005c0005t0004g0037a0005c0005t0004g0038 | 3 | 424 | 0.0071 | 11 | c.394 others(26): Show |
IFNAR2 | ENSG00000159110.22 | transcript | ENST00000342136.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
IFNE_chr9_21475839_21487313 | 21476065 | A | AAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG00673.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0000 | 1 | 450 | 0.0022 | 11 | c.*50 others(22): Show |
IFNE | ENSG00000184995.7 | transcript | ENST00000448696.4 | protein_coding | 4773 | chr9 | TogoVar | ||||||
IFNE_chr9_21475839_21487313 | 21476081 | A | AAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG01358.hp1 others(23): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0003 | a0001c0001t0002g0000a0002c0002t0003g0000 | 26 | 450 | 0.0578 | 11 | c.*49 others(22): Show |
IFNE | ENSG00000184995.7 | transcript | ENST00000448696.4 | protein_coding | 4757 | chr9 | TogoVar | ||||||
IFNGR2_chr21_33398413_33442516 | 33401638 | T | TAAATAAA others(4): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076a0001c0001t0001g0080 | 2 | 386 | 0.0052 | 11 | c.-19 others(22): Show |
IFNGR2 | ENSG00000159128.16 | transcript | ENST00000290219.11 | protein_coding | 1774 | chr21 | TogoVar | ||||||
IFNGR2_chr21_33398413_33442516 | 33401964 | C | CTTTTTTT others(4): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 HG02129.hp2 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0008a0001c0001t0002g0221a0001c0001t0004g0240 | 3 | 386 | 0.0078 | 11 | c.-15 others(22): Show |
IFNGR2 | ENSG00000159128.16 | transcript | ENST00000290219.11 | protein_coding | 1448 | chr21 | TogoVar | ||||||
IFNL1_chr19_39291407_39303673 | 39299317 | C | CTTGAGGT others(4): Show |
downstream_gene_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 302 | 0.0033 | 11 | c.*80 others(20): Show |
IFNL1 | ENSG00000182393.3 | transcript | ENST00000333625.3 | protein_coding | 645 | chr19 | TogoVar | ||||||
IFNLR1_chr1_24149168_24192289 | 24162831 | T | TTTCTTTC others(4): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 | 1 | 396 | 0.0025 | 11 | c.368 others(28): Show |
IFNLR1 | ENSG00000185436.12 | transcript | ENST00000327535.6 | protein_coding | 3/6 | chr1 | TogoVar | ||||||
IFNLR1_chr1_24149168_24192289 | 24188356 | A | AGGTGTGT others(4): Show |
upstream_gene_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0209 | 1 | 396 | 0.0025 | 11 | c.-11 others(22): Show |
IFNLR1 | ENSG00000185436.12 | transcript | ENST00000327535.6 | protein_coding | 1068 | chr1 | TogoVar | ||||||
IFNLR1_chr1_24149168_24192289 | 24188357 | A | AGTGTGTG others(4): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00639.hp1 others(59): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0016others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0157a0001c0001t0001g0222a0001c0001t0001g0225others(58): Show | 62 | 396 | 0.1566 | 11 | c.-11 others(22): Show |
IFNLR1 | ENSG00000185436.12 | transcript | ENST00000327535.6 | protein_coding | 1069 | chr1 | TogoVar | ||||||
IFNLR1_chr1_24149168_24192289 | 24189147 | C | CTCTCTCT others(4): Show |
upstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 396 | 0.0025 | 11 | c.-19 others(22): Show |
IFNLR1 | ENSG00000185436.12 | transcript | ENST00000327535.6 | protein_coding | 1859 | chr1 | TogoVar | ||||||
IFT122_chr3_129435224_129525507 | 129454513 | T | TGTGTGTG others(4): Show |
intron_variant | MODIFIER | HG02486.hp1 HG04204.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0033a0002c0002t0001g0305 | 2 | 356 | 0.0056 | 11 | c.193 others(28): Show |
IFT122 | ENSG00000163913.14 | transcript | ENST00000348417.7 | protein_coding | 3/29 | chr3 | TogoVar | ||||||
IFT122_chr3_129435224_129525507 | 129454513 | T | TTTGTGTG others(4): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 356 | 0.0028 | 11 | c.193 others(28): Show |
IFT122 | ENSG00000163913.14 | transcript | ENST00000348417.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
IFT122_chr3_129435224_129525507 | 129516716 | A | AGACTGCC others(4): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0309 | 1 | 356 | 0.0028 | 11 | c.326 others(28): Show |
IFT122 | ENSG00000163913.14 | transcript | ENST00000348417.7 | protein_coding | 26/29 | chr3 | TogoVar | ||||||
IFT140_chr16_1505427_1617072 | 1530133 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03209.hp2 |
a0006 | a0006c0007 | a0006c0007t0003 | a0006c0007t0003g0160a0006c0007t0003g0164 | 2 | 334 | 0.0060 | 11 | c.240 others(30): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 19/30 | chr16 | TogoVar | ||||||
IFT140_chr16_1505427_1617072 | 1581727 | A | AGGGGAGG others(4): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0123 | 1 | 334 | 0.0030 | 11 | c.143 others(28): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 12/30 | chr16 | TogoVar | ||||||
IFT22_chr7_101305914_101326812 | 101308663 | A | AGGAGCCC others(4): Show |
downstream_gene_variant | MODIFIER | HG02647.hp2 HG02818.hp1 HG02895.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0041a0001c0001t0073a0001c0001t0078 | a0001c0001t0041g0032a0001c0001t0073g0133a0001c0001t0078g0171 | 4 | 410 | 0.0098 | 11 | c.*64 others(22): Show |
IFT22 | ENSG00000128581.17 | transcript | ENST00000315322.10 | protein_coding | 2250 | chr7 | TogoVar | ||||||
IFT43_chr14_75980763_76088742 | 75999239 | A | ATAATATT others(4): Show |
intron_variant | MODIFIER | HG02015.hp1 NA18952.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042a0001c0001t0001g0055 | 2 | 396 | 0.0051 | 11 | c.147 others(30): Show |
IFT43 | ENSG00000119650.13 | transcript | ENST00000314067.11 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
IFT43_chr14_75980763_76088742 | 75999241 | A | ATAATATT others(4): Show |
intron_variant | MODIFIER | HG01517.hp1 HG02055.hp2 HG02258.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0204a0001c0001t0001g0226others(9): Show | 12 | 396 | 0.0303 | 11 | c.147 others(30): Show |
IFT43 | ENSG00000119650.13 | transcript | ENST00000314067.11 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
IFT43_chr14_75980763_76088742 | 75999249 | A | AAATTCAT others(4): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0281 | 1 | 396 | 0.0025 | 11 | c.147 others(30): Show |
IFT43 | ENSG00000119650.13 | transcript | ENST00000314067.11 | protein_coding | 2/8 | chr14 | TogoVar | ||||||
IFT56_chr7_139128778_139196986 | 139158313 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01943.hp2 HG02145.hp1 HG03209.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0048a0001c0001t0005g0049a0001c0001t0005g0050others(1): Show | 4 | 330 | 0.0121 | 11 | c.718 others(28): Show |
IFT56 | ENSG00000105948.13 | transcript | ENST00000464848.5 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |