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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IER3IP1_chr18_47147834_47181364 | 47179060 | C | CAAAAAAA others(10): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG01496.hp1 HG02738.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0025 a0001c0001t0002g0156 a0001c0001t0002g0176 others(2): Show |
6 | 378 | 0.0159 | 17 | c.-27 others(28): Show |
IER3IP1 | ENSG00000134049.6 | transcript | ENST00000256433.6 | protein_coding | 2697 | chr18 | TogoVar | |||||||
IFI27L2_chr14_94122781_94134604 | 94124920 | C | CTTTTTTT others(10): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00438.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(1): Show |
36 | 433 | 0.0831 | 17 | c.*28 others(28): Show |
IFI27L2 | ENSG00000119632.4 | transcript | ENST00000238609.4 | protein_coding | 2860 | chr14 | TogoVar | |||||||
IFIT1B_chr10_89373056_89390205 | 89373334 | C | CAAAAAAA others(10): Show |
upstream_gene_variant | MODIFIER | HG03486.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0008 | 2 | 440 | 0.0046 | 17 | c.-48 others(28): Show |
IFIT1B | ENSG00000204010.3 | transcript | ENST00000371809.3 | protein_coding | 4721 | chr10 | TogoVar | |||||||
IFITM10_chr11_1727406_1755595 | 1754533 | A | AGGGATGG others(10): Show |
upstream_gene_variant | MODIFIER | HG02717.hp1 HG02717.hp2 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 a0001c0001t0002g0030 a0001c0001t0002g0162 |
3 | 406 | 0.0074 | 17 | c.-41 others(28): Show |
IFITM10 | ENSG00000244242.2 | transcript | ENST00000340134.5 | protein_coding | 3939 | chr11 | TogoVar | |||||||
IFITM5_chr11_293200_304526 | 304321 | G | GGCCGCCA others(10): Show |
upstream_gene_variant | MODIFIER | NA18995.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0007 | 1 | 434 | 0.0023 | 17 | c.-48 others(28): Show |
IFITM5 | ENSG00000206013.2 | transcript | ENST00000382614.2 | protein_coding | 4796 | chr11 | TogoVar | |||||||
IFNA7_chr9_21196469_21207205 | 21197970 | C | CAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | NA19054.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 456 | 0.0022 | 17 | c.*36 others(28): Show |
IFNA7 | ENSG00000214042.1 | transcript | ENST00000239347.3 | protein_coding | 3498 | chr9 | TogoVar | |||||||
IFNA7_chr9_21196469_21207205 | 21197987 | A | AAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 456 | 0.0022 | 17 | c.*36 others(28): Show |
IFNA7 | ENSG00000214042.1 | transcript | ENST00000239347.3 | protein_coding | 3481 | chr9 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33321815 | A | AATACATA others(10): Show |
upstream_gene_variant | MODIFIER | HG01516.hp2 | a0002 | a0002c0002 | a0002c0002t0024 | a0002c0002t0024g0196 | 1 | 323 | 0.0031 | 17 | c.-32 others(28): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3154 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33321822 | A | ATGTGGAC others(10): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 HG02572.hp2 HG02896.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0035a0001c0001t0036 | a0001c0001t0012g0137 a0001c0001t0012g0138 a0001c0001t0012g0140 others(2): Show |
5 | 323 | 0.0155 | 17 | c.-32 others(28): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3147 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33321828 | C | CATATATA others(10): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00558.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0006 a0002c0002t0002g0030 a0002c0002t0002g0222 others(1): Show |
6 | 323 | 0.0186 | 17 | c.-32 others(28): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3141 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322081 | A | ATATATGG others(10): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(75): Show |
a0001a0003a0004 | a0001c0001a0001c0005a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(20): Show | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 others(62): Show |
78 | 323 | 0.2415 | 17 | c.-29 others(28): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2888 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322442 | A | AATATATA others(10): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 HG02647.hp2 HG02809.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0002c0002t0006a0002c0002t0033others(1): Show | a0001c0001t0001g0242 a0002c0002t0006g0009 a0002c0002t0033g0188 others(1): Show |
4 | 323 | 0.0124 | 17 | c.-26 others(28): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2527 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322560 | T | TATGGAAT others(10): Show |
upstream_gene_variant | MODIFIER | HG02129.hp2 NA18747.hp2 NA18967.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0009 a0002c0002t0002g0194 |
3 | 323 | 0.0093 | 17 | c.-24 others(28): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2409 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322573 | T | TACGGAAT others(10): Show |
upstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0007 | a0001c0007t0028 | a0001c0007t0028g0099 | 1 | 323 | 0.0031 | 17 | c.-24 others(28): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2396 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322586 | T | TGGAATAT others(10): Show |
upstream_gene_variant | MODIFIER | NA19080.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 323 | 0.0031 | 17 | c.-24 others(28): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2383 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322664 | T | TGGAATAT others(10): Show |
upstream_gene_variant | MODIFIER | HG01516.hp2 HG01934.hp2 HG02698.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0024 | a0002c0002t0002g0001 a0002c0002t0002g0189 a0002c0002t0002g0204 others(2): Show |
6 | 323 | 0.0186 | 17 | c.-23 others(28): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2305 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322664 | T | TGGAATAT others(10): Show |
upstream_gene_variant | MODIFIER | NA18994.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0214 | 1 | 323 | 0.0031 | 17 | c.-23 others(28): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2305 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322870 | T | TGGAATAT others(10): Show |
upstream_gene_variant | MODIFIER | HG03017.hp2 HG04199.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 a0002c0002t0002g0220 |
2 | 323 | 0.0062 | 17 | c.-21 others(28): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2099 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322981 | A | AATATATA others(10): Show |
upstream_gene_variant | MODIFIER | HG02895.hp2 HG02897.hp1 NA18973.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0009 | a0001c0001t0001g0019 a0003c0003t0009g0117 a0003c0003t0009g0119 |
3 | 323 | 0.0093 | 17 | c.-20 others(28): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1988 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33323037 | A | AATATATA others(10): Show |
upstream_gene_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0018 | 1 | 323 | 0.0031 | 17 | c.-20 others(28): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1932 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33323065 | A | AATATATA others(10): Show |
upstream_gene_variant | MODIFIER | HG02965.hp2 | a0003 | a0003c0008 | a0003c0008t0017 | a0003c0008t0017g0144 | 1 | 323 | 0.0031 | 17 | c.-19 others(28): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1904 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33323565 | T | TATATGGA others(10): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00558.hp1 NA18747.hp2 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0006 a0002c0002t0002g0009 a0002c0002t0002g0029 others(4): Show |
9 | 323 | 0.0279 | 17 | c.-14 others(28): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1404 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33333614 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02486.hp2 HG03130.hp1 others(5): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(2): Show | a0001c0001t0001g0111 a0001c0001t0005g0018 a0001c0001t0005g0110 others(4): Show |
8 | 323 | 0.0248 | 17 | c.77- others(32): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33357530 | G | GTTTTTTT others(10): Show |
3_prime_UTR_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0020 | 1 | 323 | 0.0031 | 17 | c.*19 others(28): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 11/11 | 1997 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
IFNAR2_chr21_33224938_33270664 | 33237110 | T | TGTGTGTG others(10): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0082 | 1 | 424 | 0.0024 | 17 | c.-83 others(34): Show |
IFNAR2 | ENSG00000159110.22 | transcript | ENST00000342136.9 | protein_coding | 1/8 | chr21 | TogoVar | |||||||
IFNAR2_chr21_33224938_33270664 | 33242728 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0299 | 1 | 424 | 0.0024 | 17 | c.55+ others(30): Show |
IFNAR2 | ENSG00000159110.22 | transcript | ENST00000342136.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
IFNGR1_chr6_137192485_137224385 | 137194094 | C | CTTTTTTT others(10): Show |
downstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0109 | 1 | 390 | 0.0026 | 17 | c.*39 others(28): Show |
IFNGR1 | ENSG00000027697.16 | transcript | ENST00000367739.9 | protein_coding | 3390 | chr6 | TogoVar | |||||||
IFNGR1_chr6_137192485_137224385 | 137194099 | A | ATTTTTTT others(10): Show |
downstream_gene_variant | MODIFIER | HG02965.hp1 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0035 | 1 | 390 | 0.0026 | 17 | c.*39 others(28): Show |
IFNGR1 | ENSG00000027697.16 | transcript | ENST00000367739.9 | protein_coding | 3385 | chr6 | TogoVar | |||||||
IFNG_chr12_68149768_68164740 | 68161586 | A | ATTTTTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0034 |
2 | 422 | 0.0047 | 17 | c.-19 others(28): Show |
IFNG | ENSG00000111537.5 | transcript | ENST00000229135.4 | protein_coding | 1847 | chr12 | TogoVar | |||||||
IFNK_chr9_27519290_27531498 | 27523464 | C | CAAAAAAA others(10): Show |
upstream_gene_variant | MODIFIER | HG02257.hp1 HG02486.hp2 |
a0004 | a0004c0004 | a0004c0004t0005 | a0004c0004t0005g0009 | 2 | 448 | 0.0045 | 17 | c.-87 others(26): Show |
IFNK | ENSG00000147896.4 | transcript | ENST00000276943.3 | protein_coding | 825 | chr9 | TogoVar | |||||||
IFNLR1_chr1_24149168_24192289 | 24159726 | G | GTTTTGTT others(10): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00438.hp2 others(118): Show |
a0001a0004a0011 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(24): Show | a0001c0001t0001g0188 a0001c0001t0002g0009 a0001c0001t0002g0011 others(108): Show |
121 | 396 | 0.3056 | 17 | c.511 others(30): Show |
IFNLR1 | ENSG00000185436.12 | transcript | ENST00000327535.6 | protein_coding | 4/6 | chr1 | TogoVar | |||||||
IFNLR1_chr1_24149168_24192289 | 24159726 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01517.hp1 HG03688.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0025 | a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0025g0097 |
3 | 396 | 0.0076 | 17 | c.511 others(30): Show |
IFNLR1 | ENSG00000185436.12 | transcript | ENST00000327535.6 | protein_coding | 4/6 | chr1 | TogoVar | |||||||
IFNLR1_chr1_24149168_24192289 | 24162917 | T | TTCCTTTT others(10): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 396 | 0.0025 | 17 | c.368 others(34): Show |
IFNLR1 | ENSG00000185436.12 | transcript | ENST00000327535.6 | protein_coding | 3/6 | chr1 | TogoVar | |||||||
IFNLR1_chr1_24149168_24192289 | 24188357 | A | AGTGTGTG others(10): Show |
upstream_gene_variant | MODIFIER | HG01975.hp1 HG01975.hp2 HG02738.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0013 | a0001c0001t0001g0197 a0001c0001t0001g0233 a0001c0001t0001g0272 others(2): Show |
5 | 396 | 0.0126 | 17 | c.-11 others(28): Show |
IFNLR1 | ENSG00000185436.12 | transcript | ENST00000327535.6 | protein_coding | 1069 | chr1 | TogoVar | |||||||
IFT122_chr3_129435224_129525507 | 129521068 | T | TGACACTG others(10): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02280.hp2 others(11): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0012 a0001c0001t0001g0279 a0001c0001t0001g0280 others(10): Show |
14 | 356 | 0.0393 | 17 | c.*80 others(26): Show |
IFT122 | ENSG00000163913.14 | transcript | ENST00000348417.7 | protein_coding | 562 | chr3 | TogoVar | |||||||
IFT140_chr16_1505427_1617072 | 1530133 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02015.hp1 HG02280.hp2 others(9): Show |
a0001a0002a0009others(2): Show | a0001c0001a0002c0005a0002c0016others(4): Show | a0001c0001t0004a0002c0005t0001a0002c0016t0001others(4): Show | a0001c0001t0004g0170 a0002c0005t0001g0142 a0002c0005t0001g0143 others(9): Show |
12 | 334 | 0.0359 | 17 | c.240 others(36): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 19/30 | chr16 | TogoVar | |||||||
IFT20_chr17_28323326_28340472 | 28333072 | A | ACACACAC others(10): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 360 | 0.0028 | 17 | c.-2- others(32): Show |
IFT20 | ENSG00000109083.14 | transcript | ENST00000395418.8 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
IFT56_chr7_139128778_139196986 | 139158313 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01952.hp2 HG02027.hp1 others(23): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0007 a0001c0001t0001g0047 a0001c0001t0001g0077 others(21): Show |
26 | 330 | 0.0788 | 17 | c.718 others(34): Show |
IFT56 | ENSG00000105948.13 | transcript | ENST00000464848.5 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
IFT74_chr9_26951412_27071134 | 27005352 | T | TCCACCCC others(10): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0321 | 1 | 342 | 0.0029 | 17 | c.588 others(34): Show |
IFT74 | ENSG00000096872.17 | transcript | ENST00000380062.10 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
IFT74_chr9_26951412_27071134 | 27040544 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02886.hp1 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0321 a0003c0003t0002g0322 |
2 | 342 | 0.0059 | 17 | c.105 others(36): Show |
IFT74 | ENSG00000096872.17 | transcript | ENST00000380062.10 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
IFT80_chr3_160251986_160404225 | 160312788 | A | ATATATAA others(10): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0063 | 1 | 212 | 0.0047 | 17 | c.958 others(34): Show |
IFT80 | ENSG00000068885.15 | transcript | ENST00000326448.12 | protein_coding | 9/19 | chr3 | TogoVar | |||||||
IFT80_chr3_160251986_160404225 | 160381239 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0053 | 1 | 212 | 0.0047 | 17 | c.259 others(32): Show |
IFT80 | ENSG00000068885.15 | transcript | ENST00000326448.12 | protein_coding | 3/19 | chr3 | TogoVar | |||||||
IFT88_chr13_20562157_20696444 | 20578034 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0169 | 1 | 308 | 0.0033 | 17 | c.90+ others(32): Show |
IFT88 | ENSG00000032742.18 | transcript | ENST00000351808.10 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
IFT88_chr13_20562157_20696444 | 20613951 | A | ACAGAAAG others(10): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(298): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0004a0002c0002others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(294): Show |
301 | 308 | 0.9773 | 17 | c.111 others(36): Show |
IFT88 | ENSG00000032742.18 | transcript | ENST00000351808.10 | protein_coding | 13/25 | chr13 | TogoVar | |||||||
IFT88_chr13_20562157_20696444 | 20656122 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02818.hp2 HG03225.hp1 others(1): Show |
a0002 | a0002c0002a0002c0010 | a0002c0002t0001a0002c0010t0001 | a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0010t0001g0112 others(1): Show |
4 | 308 | 0.0130 | 17 | c.200 others(34): Show |
IFT88 | ENSG00000032742.18 | transcript | ENST00000351808.10 | protein_coding | 21/25 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
IGDCC3_chr15_65322127_65383002 | 65323505 | T | TAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG02486.hp2 HG02970.hp1 |
a0002a0003 | a0002c0002a0003c0013 | a0002c0002t0025a0003c0013t0014 | a0002c0002t0025g0227 a0003c0013t0014g0221 |
2 | 314 | 0.0064 | 17 | c.*54 others(28): Show |
IGDCC3 | ENSG00000174498.14 | transcript | ENST00000327987.9 | protein_coding | 3621 | chr15 | TogoVar | |||||||
IGDCC3_chr15_65322127_65383002 | 65356848 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00733.hp2 others(31): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0006a0002c0002t0002others(17): Show | a0001c0001t0001g0048 a0001c0001t0001g0061 a0001c0001t0001g0079 others(30): Show |
34 | 314 | 0.1083 | 17 | c.409 others(36): Show |
IGDCC3 | ENSG00000174498.14 | transcript | ENST00000327987.9 | protein_coding | 2/13 | chr15 | TogoVar | |||||||
IGF1R_chr15_98643539_98969530 | 98755718 | C | CAGCAAAA others(10): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0090 | 1 | 210 | 0.0048 | 17 | c.640 others(36): Show |
IGF1R | ENSG00000140443.15 | transcript | ENST00000650285.1 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
IGF1R_chr15_98643539_98969530 | 98830603 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0139 | a0001c0001t0139g0063 | 1 | 210 | 0.0048 | 17 | c.641 others(36): Show |
IGF1R | ENSG00000140443.15 | transcript | ENST00000650285.1 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
IGF1R_chr15_98643539_98969530 | 98830605 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0005 | 1 | 210 | 0.0048 | 17 | c.641 others(36): Show |
IGF1R | ENSG00000140443.15 | transcript | ENST00000650285.1 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |