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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
INTS15_chr7_6585021_6613726 | 6613356 | T | TATATATA others(4): Show |
downstream_gene_variant | MODIFIER | HG01515.hp2 HG01517.hp1 HG02040.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0144a0001c0001t0001g0235 | 4 | 394 | 0.0102 | 11 | c.*51 others(22): Show |
INTS15 | ENSG00000146576.13 | transcript | ENST00000344417.10 | protein_coding | 4631 | chr7 | TogoVar | ||||||
INTS1_chr7_1465277_1509389 | 1506703 | T | TCCCCTCC others(4): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 HG01255.hp2 HG02109.hp2 others(11): Show |
a0001a0019 | a0001c0001a0001c0003a0001c0018others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0018t0003others(4): Show | a0001c0001t0001g0163a0001c0003t0001g0029a0001c0003t0001g0040others(8): Show | 14 | 316 | 0.0443 | 11 | c.-24 others(22): Show |
INTS1 | ENSG00000164880.16 | transcript | ENST00000404767.8 | protein_coding | 2315 | chr7 | TogoVar | ||||||
INTS2_chr17_61860367_61932982 | 61914702 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02965.hp1 HG03041.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0007a0001c0003t0002 | a0001c0001t0002g0328a0001c0001t0002g0329a0001c0001t0002g0332others(4): Show | 7 | 366 | 0.0191 | 11 | c.650 others(28): Show |
INTS2 | ENSG00000108506.14 | transcript | ENST00000251334.7 | protein_coding | 5/24 | chr17 | TogoVar | ||||||
INTS6_chr13_51356577_51458036 | 51403583 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(154): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0014others(152): Show | 157 | 358 | 0.4386 | 11 | c.430 others(28): Show |
INTS6 | ENSG00000102786.15 | transcript | ENST00000311234.9 | protein_coding | 4/17 | chr13 | TogoVar | ||||||
INTS6_chr13_51356577_51458036 | 51403603 | A | AAGAAAAA others(4): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 358 | 0.0028 | 11 | c.430 others(28): Show |
INTS6 | ENSG00000102786.15 | transcript | ENST00000311234.9 | protein_coding | 4/17 | chr13 | TogoVar | ||||||
INTS6_chr13_51356577_51458036 | 51429785 | A | AAATATAT others(4): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0295 | 1 | 358 | 0.0028 | 11 | c.429 others(26): Show |
INTS6 | ENSG00000102786.15 | transcript | ENST00000311234.9 | protein_coding | 4/17 | chr13 | TogoVar | ||||||
INTS8_chr8_94818287_94886746 | 94861256 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02258.hp2 HG03098.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0047a0001c0001t0001g0049a0001c0001t0001g0257others(1): Show | 4 | 310 | 0.0129 | 11 | c.207 others(30): Show |
INTS8 | ENSG00000164941.14 | transcript | ENST00000523731.6 | protein_coding | 16/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
INTS9_chr8_28762661_28894969 | 28840988 | A | AGCAGATC others(4): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03225.hp2 NA18906.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0345a0001c0001t0001g0346a0001c0001t0002g0262others(1): Show | 4 | 358 | 0.0112 | 11 | c.262 others(28): Show |
INTS9 | ENSG00000104299.15 | transcript | ENST00000521022.6 | protein_coding | 4/16 | chr8 | TogoVar | ||||||
INTS9_chr8_28762661_28894969 | 28850126 | G | GTCACACT others(4): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0006 | 1 | 358 | 0.0028 | 11 | c.198 others(24): Show |
INTS9 | ENSG00000104299.15 | transcript | ENST00000521022.6 | protein_coding | 3/16 | chr8 | TogoVar | ||||||
INVS_chr9_100094243_100307175 | 100100812 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0005 | a0005c0006 | a0005c0006t0020 | a0005c0006t0020g0099 | 1 | 182 | 0.0055 | 11 | c.-25 others(28): Show |
INVS | ENSG00000119509.13 | transcript | ENST00000262457.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
INVS_chr9_100094243_100307175 | 100154331 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02809.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0025a0001c0001t0001g0026 | 3 | 182 | 0.0165 | 11 | c.273 others(30): Show |
INVS | ENSG00000119509.13 | transcript | ENST00000262457.7 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
INVS_chr9_100094243_100307175 | 100157267 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02055.hp1 HG02717.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0008a0001c0001t0026others(2): Show | a0001c0001t0001g0033a0001c0001t0008g0034a0001c0001t0026g0029others(3): Show | 6 | 182 | 0.0330 | 11 | c.273 others(30): Show |
INVS | ENSG00000119509.13 | transcript | ENST00000262457.7 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
INVS_chr9_100094243_100307175 | 100187525 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00738.hp2 HG00741.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(6): Show | a0001c0001t0001g0015a0001c0001t0001g0025a0001c0001t0001g0026others(16): Show | 19 | 182 | 0.1044 | 11 | c.274 others(30): Show |
INVS | ENSG00000119509.13 | transcript | ENST00000262457.7 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
INVS_chr9_100094243_100307175 | 100278231 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02970.hp2 HG03139.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0134a0001c0001t0012g0135a0001c0001t0012g0136others(1): Show | 4 | 182 | 0.0220 | 11 | c.178 others(30): Show |
INVS | ENSG00000119509.13 | transcript | ENST00000262457.7 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
IP6K1_chr3_49719294_49791542 | 49772133 | C | CCAAGGTG others(4): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0230 | 1 | 260 | 0.0039 | 11 | c.-12 others(32): Show |
IP6K1 | ENSG00000176095.12 | transcript | ENST00000321599.9 | protein_coding | 1/5 | chr3 | TogoVar | ||||||
IP6K2_chr3_48683003_48722221 | 48687070 | C | CCTTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | HG01074.hp2 HG01109.hp2 HG01255.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(13): Show | 18 | 262 | 0.0687 | 11 | c.*12 others(22): Show |
IP6K2 | ENSG00000068745.15 | transcript | ENST00000328631.10 | protein_coding | 932 | chr3 | TogoVar | ||||||
IP6K3_chr6_33716662_33751905 | 33717640 | A | ATTTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | HG02572.hp1 | a0003 | a0003c0006 | a0003c0006t0023 | a0003c0006t0023g0099 | 1 | 366 | 0.0027 | 11 | c.*50 others(22): Show |
IP6K3 | ENSG00000161896.12 | transcript | ENST00000293756.5 | protein_coding | 4021 | chr6 | TogoVar | ||||||
IPCEF1_chr6_154149496_154361803 | 154152347 | G | GAAAGAAA others(4): Show |
downstream_gene_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 264 | 0.0038 | 11 | c.*74 others(22): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 2148 | chr6 | TogoVar | ||||||
IPCEF1_chr6_154149496_154361803 | 154180414 | A | ATATATTT others(4): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0260 | 1 | 264 | 0.0038 | 11 | c.911 others(30): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 10/11 | chr6 | TogoVar | ||||||
IPCEF1_chr6_154149496_154361803 | 154187212 | A | ATTTTCCA others(4): Show |
intron_variant | MODIFIER | HG03225.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0091a0001c0001t0007g0146 | 2 | 264 | 0.0076 | 11 | c.910 others(30): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 10/11 | chr6 | TogoVar | ||||||
IPCEF1_chr6_154149496_154361803 | 154192318 | C | CTGTGTGT others(4): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0162 | 1 | 264 | 0.0038 | 11 | c.910 others(28): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 10/11 | chr6 | TogoVar | ||||||
IPCEF1_chr6_154149496_154361803 | 154313067 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 264 | 0.0038 | 11 | c.-61 others(30): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 1/11 | chr6 | TogoVar | ||||||
IPCEF1_chr6_154149496_154361803 | 154357695 | A | AATATATA others(4): Show |
upstream_gene_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0203 | 1 | 264 | 0.0038 | 11 | c.-10 others(22): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 893 | chr6 | TogoVar | ||||||
IPMK_chr10_58186517_58272894 | 58211901 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0012 | 2 | 346 | 0.0058 | 11 | c.546 others(28): Show |
IPMK | ENSG00000151151.6 | transcript | ENST00000373935.4 | protein_coding | 4/5 | chr10 | TogoVar | ||||||
IPMK_chr10_58186517_58272894 | 58217688 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00609.hp1 HG01358.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(2): Show | a0001c0001t0002g0157a0001c0001t0002g0218a0001c0001t0002g0225others(13): Show | 16 | 346 | 0.0462 | 11 | c.374 others(28): Show |
IPMK | ENSG00000151151.6 | transcript | ENST00000373935.4 | protein_coding | 3/5 | chr10 | TogoVar | ||||||
IPMK_chr10_58186517_58272894 | 58259671 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 346 | 0.0029 | 11 | c.190 others(28): Show |
IPMK | ENSG00000151151.6 | transcript | ENST00000373935.4 | protein_coding | 1/5 | chr10 | TogoVar | ||||||
IPMK_chr10_58186517_58272894 | 58271043 | A | ATTTTTTT others(4): Show |
upstream_gene_variant | MODIFIER | HG02717.hp2 HG02895.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0020 | a0001c0001t0009g0222a0001c0001t0020g0270a0001c0001t0020g0271 | 3 | 346 | 0.0087 | 11 | c.-34 others(22): Show |
IPMK | ENSG00000151151.6 | transcript | ENST00000373935.4 | protein_coding | 3150 | chr10 | TogoVar | ||||||
IPO11_chr5_62407763_62633582 | 62464143 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0006 | a0001c0006t0010 | a0001c0006t0010g0010 | 1 | 330 | 0.0030 | 11 | c.517 others(28): Show |
IPO11 | ENSG00000086200.17 | transcript | ENST00000325324.11 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
IPO11_chr5_62407763_62633582 | 62470816 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01978.hp2 HG02083.hp1 |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0001t0002a0001c0012t0011 | a0001c0001t0001g0103a0001c0001t0002g0156a0001c0012t0011g0011 | 3 | 330 | 0.0091 | 11 | c.708 others(26): Show |
IPO11 | ENSG00000086200.17 | transcript | ENST00000325324.11 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
IPO11_chr5_62407763_62633582 | 62586760 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | NA18982.hp1 NA19002.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025a0001c0001t0001g0035 | 2 | 330 | 0.0061 | 11 | c.258 others(30): Show |
IPO11 | ENSG00000086200.17 | transcript | ENST00000325324.11 | protein_coding | 27/29 | chr5 | TogoVar | ||||||
IPO11_chr5_62407763_62633582 | 62586762 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02071.hp2 NA18994.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0019a0001c0001t0001g0053 | 3 | 330 | 0.0091 | 11 | c.258 others(30): Show |
IPO11 | ENSG00000086200.17 | transcript | ENST00000325324.11 | protein_coding | 27/29 | chr5 | TogoVar | ||||||
IPO11_chr5_62407763_62633582 | 62586764 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 330 | 0.0030 | 11 | c.258 others(30): Show |
IPO11 | ENSG00000086200.17 | transcript | ENST00000325324.11 | protein_coding | 27/29 | chr5 | TogoVar | ||||||
IPO11_chr5_62407763_62633582 | 62598430 | T | TTCTTTCT others(4): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0282 | 1 | 330 | 0.0030 | 11 | c.267 others(30): Show |
IPO11 | ENSG00000086200.17 | transcript | ENST00000325324.11 | protein_coding | 28/29 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
IPO5_chr13_97948675_98029296 | 97969175 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0150a0001c0001t0002g0183 | 2 | 380 | 0.0053 | 11 | c.-11 others(28): Show |
IPO5 | ENSG00000065150.21 | transcript | ENST00000651721.2 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
IPO5_chr13_97948675_98029296 | 97969175 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG02738.hp1 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0173a0001c0001t0008g0179 | 2 | 380 | 0.0053 | 11 | c.-11 others(28): Show |
IPO5 | ENSG00000065150.21 | transcript | ENST00000651721.2 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
IPO5_chr13_97948675_98029296 | 97969175 | A | ATATATTT others(4): Show |
intron_variant | MODIFIER | HG02135.hp1 HG02630.hp1 HG02717.hp1 others(2): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0017 | a0001c0001t0001a0001c0002t0003a0006c0017t0003 | a0001c0001t0001g0375a0001c0002t0003g0028a0001c0002t0003g0029others(2): Show | 5 | 380 | 0.0132 | 11 | c.-11 others(28): Show |
IPO5 | ENSG00000065150.21 | transcript | ENST00000651721.2 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
IPO5_chr13_97948675_98029296 | 97969175 | A | ATATTTTT others(4): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01069.hp2 HG02015.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0015 | a0001c0002t0003g0016a0001c0002t0003g0022a0001c0002t0003g0035others(2): Show | 5 | 380 | 0.0132 | 11 | c.-11 others(28): Show |
IPO5 | ENSG00000065150.21 | transcript | ENST00000651721.2 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
IPO5_chr13_97948675_98029296 | 97969175 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | NA19087.hp2 NA20300.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0119a0001c0002t0003g0066 | 2 | 380 | 0.0053 | 11 | c.-11 others(28): Show |
IPO5 | ENSG00000065150.21 | transcript | ENST00000651721.2 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
IPO5_chr13_97948675_98029296 | 97969176 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | HG01169.hp2 HG03491.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0156a0001c0001t0002g0160 | 2 | 380 | 0.0053 | 11 | c.-11 others(28): Show |
IPO5 | ENSG00000065150.21 | transcript | ENST00000651721.2 | protein_coding | 2/28 | chr13 | TogoVar | ||||||
IPO5_chr13_97948675_98029296 | 98006356 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01884.hp1 HG02040.hp1 others(12): Show |
a0001 | a0001c0001a0001c0003a0001c0014 | a0001c0001t0001a0001c0001t0020a0001c0003t0001others(1): Show | a0001c0001t0001g0077a0001c0001t0001g0192a0001c0001t0001g0194others(12): Show | 15 | 380 | 0.0395 | 11 | c.171 others(26): Show |
IPO5 | ENSG00000065150.21 | transcript | ENST00000651721.2 | protein_coding | 17/28 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
IPO5_chr13_97948675_98029296 | 98010780 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00642.hp1 others(40): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(4): Show | a0001c0001t0001g0116a0001c0001t0002g0004a0001c0001t0002g0110others(39): Show | 43 | 380 | 0.1132 | 11 | c.205 others(28): Show |
IPO5 | ENSG00000065150.21 | transcript | ENST00000651721.2 | protein_coding | 20/28 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
IPO5_chr13_97948675_98029296 | 98012801 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0011 | 1 | 380 | 0.0026 | 11 | c.215 others(28): Show |
IPO5 | ENSG00000065150.21 | transcript | ENST00000651721.2 | protein_coding | 21/28 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
IPO7_chr11_9379652_9453127 | 9397341 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG03239.hp2 HG03490.hp1 HG03492.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0272a0001c0002t0004g0273a0001c0002t0004g0274others(1): Show | 4 | 314 | 0.0127 | 11 | c.85- others(26): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
IPO7_chr11_9379652_9453127 | 9414619 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0276 | 1 | 314 | 0.0032 | 11 | c.636 others(26): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 5/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
IPO7_chr11_9379652_9453127 | 9432989 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00673.hp2 HG00735.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0009 | a0001c0001t0002g0191a0001c0001t0002g0210a0001c0001t0002g0213others(12): Show | 15 | 314 | 0.0478 | 11 | c.188 others(28): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
IPO7_chr11_9379652_9453127 | 9436868 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG00738.hp1 NA18941.hp1 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092a0001c0001t0001g0093a0001c0001t0001g0103 | 3 | 314 | 0.0096 | 11 | c.226 others(28): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
IPO7_chr11_9379652_9453127 | 9436868 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 314 | 0.0032 | 11 | c.226 others(28): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
IPO7_chr11_9379652_9453127 | 9436868 | A | ATATTTTT others(4): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 314 | 0.0032 | 11 | c.226 others(28): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
IPO7_chr11_9379652_9453127 | 9436869 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG01981.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0060a0001c0001t0001g0108a0001c0001t0001g0136others(3): Show | 6 | 314 | 0.0191 | 11 | c.226 others(28): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 20/24 | chr11 | TogoVar | ||||||
IQCA1L_chr7_151185873_151210496 | 151204745 | C | CTACCTGC others(4): Show |
frameshift_variant others(1): Show |
HIGH | NA19030.hp1 | a0030 | a0030c0050 | a0030c0050t0001 | a0030c0050t0001g0068 | 1 | 448 | 0.0022 | 11 | c.102 others(18): Show |
p.Glu others(4): Show |
IQCA1L | ENSG00000278685.4 | transcript | ENST00000615129.4 | protein_coding | 2/19 | 144/2606 | 102/2457 | 34/818 | chr7 | TogoVar |