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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IFRD1_chr7_112445460_112482203 | 112463813 | C | CATACATG others(1): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01074.hp1 HG02818.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0023a0001c0001t0004g0202a0001c0001t0004g0218 | 5 | 374 | 0.0134 | 8 | c.906 others(25): Show |
IFRD1 | ENSG00000006652.15 | transcript | ENST00000403825.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
IFT122_chr3_129435224_129525507 | 129454513 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00621.hp1 HG00621.hp2 others(30): Show |
a0001a0002a0003 | a0001c0001a0001c0007a0001c0009others(2): Show | a0001c0001t0001a0001c0007t0001a0001c0009t0001others(2): Show | a0001c0001t0001g0007a0001c0001t0001g0107a0001c0001t0001g0119others(27): Show | 33 | 356 | 0.0927 | 8 | c.193 others(25): Show |
IFT122 | ENSG00000163913.14 | transcript | ENST00000348417.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
IFT122_chr3_129435224_129525507 | 129454513 | T | TTTTGTGT others(1): Show |
intron_variant | MODIFIER | HG02071.hp1 HG02132.hp2 HG02523.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040a0001c0001t0001g0048a0001c0001t0001g0049others(4): Show | 7 | 356 | 0.0197 | 8 | c.193 others(25): Show |
IFT122 | ENSG00000163913.14 | transcript | ENST00000348417.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
IFT122_chr3_129435224_129525507 | 129516286 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02280.hp2 HG02572.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0274a0001c0003t0001g0276a0001c0003t0001g0277others(1): Show | 4 | 356 | 0.0112 | 8 | c.326 others(25): Show |
IFT122 | ENSG00000163913.14 | transcript | ENST00000348417.7 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
IFT122_chr3_129435224_129525507 | 129517268 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG01515.hp2 HG01884.hp1 NA19004.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052a0001c0001t0001g0113a0001c0001t0001g0121 | 3 | 356 | 0.0084 | 8 | c.326 others(25): Show |
IFT122 | ENSG00000163913.14 | transcript | ENST00000348417.7 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
IFT140_chr16_1505427_1617072 | 1604274 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00642.hp2 others(43): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0002a0001c0001t0007a0001c0002t0001others(11): Show | a0001c0001t0002g0178a0001c0001t0002g0179a0001c0001t0002g0182others(43): Show | 46 | 334 | 0.1377 | 8 | c.148 others(25): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 3/30 | chr16 | TogoVar | ||||||
IFT20_chr17_28323326_28340472 | 28333072 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(85): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006 | a0001c0001t0001g0001a0001c0001t0001g0019a0001c0001t0001g0023others(14): Show | 88 | 360 | 0.2444 | 8 | c.-2- others(23): Show |
IFT20 | ENSG00000109083.14 | transcript | ENST00000395418.8 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
IFT43_chr14_75980763_76088742 | 75991423 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00733.hp2 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240a0001c0001t0001g0241a0001c0001t0001g0242 | 3 | 396 | 0.0076 | 8 | c.147 others(25): Show |
IFT43 | ENSG00000119650.13 | transcript | ENST00000314067.11 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
IFT52_chr20_43585937_43652299 | 43589325 | C | CTTTTTTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(154): Show |
a0001a0004a0006 | a0001c0001a0001c0002a0004c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0011a0001c0001t0001g0012others(148): Show | 157 | 300 | 0.5233 | 8 | c.-17 others(19): Show |
IFT52 | ENSG00000101052.13 | transcript | ENST00000373030.8 | protein_coding | 1611 | chr20 | TogoVar | ||||||
IFT52_chr20_43585937_43652299 | 43602143 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02886.hp1 HG02896.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0019a0001c0002t0001g0028a0001c0002t0001g0029others(4): Show | 7 | 300 | 0.0233 | 8 | c.208 others(25): Show |
IFT52 | ENSG00000101052.13 | transcript | ENST00000373030.8 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
IFT56_chr7_139128778_139196986 | 139177611 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(92): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0014others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0007others(75): Show | 95 | 330 | 0.2879 | 8 | c.107 others(25): Show |
IFT56 | ENSG00000105948.13 | transcript | ENST00000464848.5 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
IFT56_chr7_139128778_139196986 | 139196161 | C | CTTTTTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG01943.hp2 HG02886.hp2 HG02896.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0049a0001c0001t0005g0050a0001c0001t0005g0053others(3): Show | 6 | 330 | 0.0182 | 8 | c.*67 others(19): Show |
IFT56 | ENSG00000105948.13 | transcript | ENST00000464848.5 | protein_coding | 4176 | chr7 | TogoVar | ||||||
IFT57_chr3_108155812_108227424 | 108155814 | A | AAAATAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 HG01069.hp2 HG01070.hp1 others(44): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0018others(42): Show | 47 | 354 | 0.1328 | 8 | c.*66 others(19): Show |
IFT57 | ENSG00000114446.5 | transcript | ENST00000264538.4 | protein_coding | 4997 | chr3 | TogoVar | ||||||
IFT57_chr3_108155812_108227424 | 108159467 | A | ATATATGT others(1): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00673.hp1 others(27): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0007a0001c0002t0016 | a0001c0002t0004g0008a0001c0002t0004g0033a0001c0002t0004g0034others(26): Show | 30 | 354 | 0.0848 | 8 | c.*30 others(19): Show |
IFT57 | ENSG00000114446.5 | transcript | ENST00000264538.4 | protein_coding | 1344 | chr3 | TogoVar | ||||||
IFT57_chr3_108155812_108227424 | 108173766 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01934.hp2 HG02074.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0072a0001c0001t0002g0078a0001c0001t0002g0089others(2): Show | 5 | 354 | 0.0141 | 8 | c.778 others(25): Show |
IFT57 | ENSG00000114446.5 | transcript | ENST00000264538.4 | protein_coding | 6/10 | chr3 | TogoVar | ||||||
IFT57_chr3_108155812_108227424 | 108173808 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01515.hp1 HG02071.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011 | a0001c0001t0003g0024a0001c0001t0003g0025a0001c0001t0003g0026others(23): Show | 30 | 354 | 0.0848 | 8 | c.778 others(25): Show |
IFT57 | ENSG00000114446.5 | transcript | ENST00000264538.4 | protein_coding | 6/10 | chr3 | TogoVar | ||||||
IFT57_chr3_108155812_108227424 | 108173997 | A | AATGTGTG others(1): Show |
intron_variant | MODIFIER | HG02165.hp1 HG02165.hp2 HG02486.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0004 | a0001c0001t0003g0264a0001c0001t0003g0265a0001c0001t0003g0266others(4): Show | 7 | 354 | 0.0198 | 8 | c.778 others(25): Show |
IFT57 | ENSG00000114446.5 | transcript | ENST00000264538.4 | protein_coding | 6/10 | chr3 | TogoVar | ||||||
IFT57_chr3_108155812_108227424 | 108210332 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00673.hp1 HG02300.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0035a0001c0002t0004g0039a0001c0002t0004g0040others(4): Show | 7 | 354 | 0.0198 | 8 | c.585 others(25): Show |
IFT57 | ENSG00000114446.5 | transcript | ENST00000264538.4 | protein_coding | 4/10 | chr3 | TogoVar | ||||||
IFT57_chr3_108155812_108227424 | 108225332 | C | CAAAAAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 HG01069.hp1 HG01070.hp1 others(24): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0006 | a0001c0001t0001a0001c0001t0005a0001c0001t0014others(3): Show | a0001c0001t0001g0163a0001c0001t0001g0192a0001c0001t0001g0234others(23): Show | 27 | 354 | 0.0763 | 8 | c.-30 others(19): Show |
IFT57 | ENSG00000114446.5 | transcript | ENST00000264538.4 | protein_coding | 2909 | chr3 | TogoVar | ||||||
IFT74_chr9_26951412_27071134 | 27005352 | T | TCCCCCGC others(1): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG00735.hp2 others(15): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0002a0002c0002t0024others(1): Show | a0001c0001t0001g0230a0001c0001t0001g0252a0002c0002t0002g0007others(15): Show | 18 | 342 | 0.0526 | 8 | c.588 others(25): Show |
IFT74 | ENSG00000096872.17 | transcript | ENST00000380062.10 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
IFT74_chr9_26951412_27071134 | 27056858 | G | GGATAGAT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00738.hp1 HG02129.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0002 | a0001c0001t0001g0152a0001c0001t0001g0153a0001c0001t0001g0161others(6): Show | 9 | 342 | 0.0263 | 8 | c.162 others(25): Show |
IFT74 | ENSG00000096872.17 | transcript | ENST00000380062.10 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
IFT74_chr9_26951412_27071134 | 27061677 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG00597.hp1 HG03491.hp2 NA18979.hp1 others(3): Show |
a0002a0005 | a0002c0002a0005c0004 | a0002c0002t0002a0005c0004t0004 | a0002c0002t0002g0039a0002c0002t0002g0044a0002c0002t0002g0045others(3): Show | 6 | 342 | 0.0175 | 8 | c.168 others(25): Show |
IFT74 | ENSG00000096872.17 | transcript | ENST00000380062.10 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
IFT80_chr3_160251986_160404225 | 160315053 | A | AAGGGAGG others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01069.hp2 HG01243.hp1 others(17): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0008a0001c0001t0001g0010a0001c0001t0001g0012others(16): Show | 20 | 212 | 0.0943 | 8 | c.957 others(25): Show |
IFT80 | ENSG00000068885.15 | transcript | ENST00000326448.12 | protein_coding | 9/19 | chr3 | TogoVar | ||||||
IFT80_chr3_160251986_160404225 | 160381239 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01167.hp1 HG01261.hp1 others(6): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0002a0002c0002t0004a0002c0003t0002 | a0002c0002t0002g0048a0002c0002t0004g0018a0002c0002t0004g0019others(6): Show | 9 | 212 | 0.0425 | 8 | c.259 others(23): Show |
IFT80 | ENSG00000068885.15 | transcript | ENST00000326448.12 | protein_coding | 3/19 | chr3 | TogoVar | ||||||
IFT81_chr12_110119357_110223793 | 110154978 | T | TGAGCCGA others(1): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01069.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0006 | 2 | 218 | 0.0092 | 8 | c.104 others(27): Show |
IFT81 | ENSG00000122970.16 | transcript | ENST00000242591.10 | protein_coding | 10/18 | chr12 | TogoVar | ||||||
IFT81_chr12_110119357_110223793 | 110169023 | C | CCCTTCCT others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01071.hp1 HG01081.hp2 others(9): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0003c0003t0004 | a0001c0001t0001g0030a0001c0001t0001g0034a0001c0001t0001g0042others(9): Show | 12 | 218 | 0.0551 | 8 | c.118 others(27): Show |
IFT81 | ENSG00000122970.16 | transcript | ENST00000242591.10 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
IFT81_chr12_110119357_110223793 | 110179773 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | NA19001.hp2 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0161a0001c0001t0003g0210 | 2 | 218 | 0.0092 | 8 | c.118 others(25): Show |
IFT81 | ENSG00000122970.16 | transcript | ENST00000242591.10 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
IFT81_chr12_110119357_110223793 | 110179773 | T | TATACACA others(1): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0114a0001c0001t0002g0197 | 2 | 218 | 0.0092 | 8 | c.118 others(25): Show |
IFT81 | ENSG00000122970.16 | transcript | ENST00000242591.10 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
IFT81_chr12_110119357_110223793 | 110197248 | G | GTAGATAG others(1): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02071.hp2 HG03017.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0004t0001a0002c0002t0001 | a0001c0001t0001g0062a0001c0001t0001g0103a0001c0001t0001g0158others(2): Show | 5 | 218 | 0.0229 | 8 | c.155 others(27): Show |
IFT81 | ENSG00000122970.16 | transcript | ENST00000242591.10 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
IFT88_chr13_20562157_20696444 | 20570676 | A | AAATAGAT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(264): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0002c0002others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0010others(260): Show | 267 | 308 | 0.8669 | 8 | c.-7+ others(23): Show |
IFT88 | ENSG00000032742.18 | transcript | ENST00000351808.10 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
IFT88_chr13_20562157_20696444 | 20614817 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01261.hp2 HG02683.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0016others(5): Show | 8 | 308 | 0.0260 | 8 | c.111 others(25): Show |
IFT88 | ENSG00000032742.18 | transcript | ENST00000351808.10 | protein_coding | 13/25 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
IFT88_chr13_20562157_20696444 | 20640571 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01069.hp2 HG01071.hp1 others(31): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0010others(4): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(5): Show | a0001c0001t0001g0022a0001c0001t0001g0036a0001c0001t0001g0046others(31): Show | 34 | 308 | 0.1104 | 8 | c.157 others(25): Show |
IFT88 | ENSG00000032742.18 | transcript | ENST00000351808.10 | protein_coding | 17/25 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
IFT88_chr13_20562157_20696444 | 20657762 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01243.hp1 HG02055.hp1 others(5): Show |
a0001a0007a0008 | a0001c0004a0007c0007a0008c0014 | a0001c0004t0001a0007c0007t0001a0008c0014t0001 | a0001c0004t0001g0007a0001c0004t0001g0008a0001c0004t0001g0092others(5): Show | 8 | 308 | 0.0260 | 8 | c.206 others(27): Show |
IFT88 | ENSG00000032742.18 | transcript | ENST00000351808.10 | protein_coding | 22/25 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
IFTAP_chr11_36589502_36664272 | 36622083 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01517.hp2 HG02523.hp1 HG02647.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0048a0001c0001t0002g0055a0001c0001t0002g0214others(4): Show | 7 | 358 | 0.0196 | 8 | c.137 others(27): Show |
IFTAP | ENSG00000166352.18 | transcript | ENST00000334307.10 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
IFTAP_chr11_36589502_36664272 | 36661259 | C | CATATATA others(1): Show |
downstream_gene_variant | MODIFIER | HG02071.hp1 HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0062 | 3 | 358 | 0.0084 | 8 | c.*20 others(19): Show |
IFTAP | ENSG00000166352.18 | transcript | ENST00000334307.10 | protein_coding | 1988 | chr11 | TogoVar | ||||||
IGBP1C_chr17_58655424_58697045 | 58673484 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(102): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0014a0001c0001t0001g0092a0001c0001t0001g0167others(93): Show | 105 | 368 | 0.2853 | 8 | c.-23 others(29): Show |
IGBP1C | ENSG00000266826.3 | transcript | ENST00000583666.3 | protein_coding | 1/1 | chr17 | TogoVar | ||||||
IGBP1_chrX_70128447_70171324 | 70154714 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01884.hp2 HG02273.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0092a0001c0001t0001g0107a0001c0001t0001g0114others(5): Show | 9 | 245 | 0.0367 | 8 | c.871 others(25): Show |
IGBP1 | ENSG00000089289.16 | transcript | ENST00000356413.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
IGBP1_chrX_70128447_70171324 | 70166787 | C | CTTTTTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG00735.hp1 HG01106.hp1 HG01168.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0055a0001c0001t0001g0066a0001c0001t0001g0079others(3): Show | 6 | 245 | 0.0245 | 8 | c.*80 others(17): Show |
IGBP1 | ENSG00000089289.16 | transcript | ENST00000356413.5 | protein_coding | 464 | chrX | TogoVar | ||||||
IGDCC3_chr15_65322127_65383002 | 65370620 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00621.hp2 HG00642.hp2 others(17): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0008 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0001g0022a0001c0001t0001g0030a0001c0001t0001g0031others(16): Show | 20 | 314 | 0.0637 | 8 | c.409 others(25): Show |
IGDCC3 | ENSG00000174498.14 | transcript | ENST00000327987.9 | protein_coding | 2/13 | chr15 | TogoVar | ||||||
IGDCC4_chr15_65376484_65427947 | 65404671 | G | GTGAATGA others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00544.hp1 others(223): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0003a0001c0008others(41): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(84): Show | a0001c0001t0001g0003a0001c0001t0001g0022a0001c0001t0001g0046others(217): Show | 226 | 352 | 0.6421 | 8 | c.564 others(25): Show |
IGDCC4 | ENSG00000103742.12 | transcript | ENST00000352385.3 | protein_coding | 3/19 | chr15 | TogoVar | ||||||
IGDCC4_chr15_65376484_65427947 | 65413024 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01109.hp2 HG01167.hp1 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0011a0002c0002a0002c0004others(3): Show | a0001c0011t0007a0001c0011t0016a0001c0011t0022others(7): Show | a0001c0011t0007g0210a0001c0011t0016g0213a0001c0011t0022g0212others(7): Show | 10 | 352 | 0.0284 | 8 | c.71- others(23): Show |
IGDCC4 | ENSG00000103742.12 | transcript | ENST00000352385.3 | protein_coding | 1/19 | chr15 | TogoVar | ||||||
IGDCC4_chr15_65376484_65427947 | 65422519 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02040.hp1 HG02109.hp2 others(17): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0008a0001c0021others(10): Show | a0001c0001t0001a0001c0008t0001a0001c0008t0002others(14): Show | a0001c0001t0001g0002a0001c0008t0001g0029a0001c0008t0002g0030others(16): Show | 20 | 352 | 0.0568 | 8 | c.70+ others(21): Show |
IGDCC4 | ENSG00000103742.12 | transcript | ENST00000352385.3 | protein_coding | 1/19 | chr15 | TogoVar | ||||||
IGF1R_chr15_98643539_98969530 | 98688414 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03195.hp1 NA18906.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0036a0001c0001t0074 | a0001c0001t0016g0095a0001c0001t0016g0096a0001c0001t0036g0142others(1): Show | 4 | 210 | 0.0191 | 8 | c.95- others(25): Show |
IGF1R | ENSG00000140443.15 | transcript | ENST00000650285.1 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
IGF1R_chr15_98643539_98969530 | 98788052 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG03225.hp2 HG03579.hp2 |
a0001 | a0001c0002a0001c0008 | a0001c0002t0025a0001c0008t0009 | a0001c0002t0025g0208a0001c0008t0009g0206 | 2 | 210 | 0.0095 | 8 | c.640 others(27): 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(1): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02451.hp1 HG02559.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0008others(19): Show | a0001c0001t0003g0135a0001c0001t0004g0136a0001c0001t0008g0090others(19): Show | 22 | 210 | 0.1048 | 8 | c.641 others(27): Show |
IGF1R | ENSG00000140443.15 | transcript | ENST00000650285.1 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
IGF1R_chr15_98643539_98969530 | 98835080 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02280.hp1 HG02615.hp1 |
a0001 | a0001c0001a0001c0022 | a0001c0001t0088a0001c0001t0151a0001c0022t0101 | a0001c0001t0088g0094a0001c0001t0151g0190a0001c0022t0101g0169 | 3 | 210 | 0.0143 | 8 | c.641 others(27): Show |
IGF1R | ENSG00000140443.15 | transcript | ENST00000650285.1 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
IGF1R_chr15_98643539_98969530 | 98868327 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00639.hp1 HG00735.hp2 others(44): Show |
a0000a0001 | a0000c0016a0001c0001a0001c0002others(8): Show | a0000c0016t0046a0001c0001t0001a0001c0001t0003others(41): Show | a0000c0016t0046g0154a0001c0001t0001g0010a0001c0001t0003g0114others(44): Show | 47 | 210 | 0.2238 | 8 | c.641 others(27): Show |
IGF1R | ENSG00000140443.15 | transcript | ENST00000650285.1 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
IGF1R_chr15_98643539_98969530 | 98884474 | C | CACGAGGA others(1): Show |
intron_variant | MODIFIER | HG01361.hp1 HG01993.hp2 HG02602.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0009others(2): Show | a0001c0001t0032a0001c0001t0073a0001c0001t0082others(6): Show | a0001c0001t0032g0130a0001c0001t0073g0071a0001c0001t0082g0073others(6): Show | 9 | 210 | 0.0429 | 8 | c.641 others(25): Show |
IGF1R | ENSG00000140443.15 | transcript | ENST00000650285.1 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
IGF1R_chr15_98643539_98969530 | 98888438 | A | AGAGAGTG others(1): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00639.hp1 HG01070.hp1 others(39): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(36): Show | a0001c0001t0001g0009a0001c0001t0001g0037a0001c0001t0001g0066others(39): Show | 42 | 210 | 0.2000 | 8 | c.641 others(25): Show |
IGF1R | ENSG00000140443.15 | transcript | ENST00000650285.1 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
IGF1R_chr15_98643539_98969530 | 98888438 | A | AGAGTGTG others(1): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02895.hp2 HG03195.hp1 others(3): Show |
a0001 | a0001c0001a0001c0020 | a0001c0001t0016a0001c0001t0074a0001c0001t0082others(2): Show | a0001c0001t0016g0095a0001c0001t0016g0096a0001c0001t0074g0075others(3): Show | 6 | 210 | 0.0286 | 8 | c.641 others(25): Show |
IGF1R | ENSG00000140443.15 | transcript | ENST00000650285.1 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |