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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IFT56_chr7_139128778_139196986 | 139177611 | A | AGTTGTGT others(4): Show |
intron_variant | MODIFIER | HG01891.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0021 | a0001c0001t0001g0076a0001c0001t0021g0046 | 2 | 330 | 0.0061 | 11 | c.107 others(28): 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(4): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 HG03834.hp1 |
a0001 | a0001c0003 | a0001c0003t0013a0001c0003t0017 | a0001c0003t0013g0128a0001c0003t0017g0088 | 2 | 330 | 0.0061 | 11 | c.*67 others(22): Show |
IFT56 | ENSG00000105948.13 | transcript | ENST00000464848.5 | protein_coding | 4176 | chr7 | TogoVar | ||||||
IFT57_chr3_108155812_108227424 | 108174045 | T | TGTGTGTG others(4): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 354 | 0.0028 | 11 | c.778 others(28): Show |
IFT57 | ENSG00000114446.5 | transcript | ENST00000264538.4 | protein_coding | 6/10 | chr3 | TogoVar | ||||||
IFT74_chr9_26951412_27071134 | 27005352 | T | TCCCCCGC others(4): Show |
intron_variant | MODIFIER | HG02135.hp2 NA19078.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0084a0002c0002t0002g0125 | 2 | 342 | 0.0059 | 11 | c.588 others(28): Show |
IFT74 | ENSG00000096872.17 | transcript | ENST00000380062.10 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
IFT74_chr9_26951412_27071134 | 27022115 | G | GAGAGAGA others(4): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0068 | 1 | 342 | 0.0029 | 11 | c.974 others(28): Show |
IFT74 | ENSG00000096872.17 | transcript | ENST00000380062.10 | protein_coding | 12/19 | chr9 | TogoVar | ||||||
IFT74_chr9_26951412_27071134 | 27031781 | T | TAAAATAA others(4): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0039 | 1 | 342 | 0.0029 | 11 | c.105 others(30): Show |
IFT74 | ENSG00000096872.17 | transcript | ENST00000380062.10 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
IFT81_chr12_110119357_110223793 | 110190192 | A | AGAGTGCA others(4): Show |
intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 218 | 0.0046 | 11 | c.133 others(28): Show |
IFT81 | ENSG00000122970.16 | transcript | ENST00000242591.10 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
IFT88_chr13_20562157_20696444 | 20578034 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03130.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0006a0001c0004t0001g0107 | 2 | 308 | 0.0065 | 11 | c.90+ others(26): Show |
IFT88 | ENSG00000032742.18 | transcript | ENST00000351808.10 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
IFT88_chr13_20562157_20696444 | 20614817 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0008 | a0008c0014 | a0008c0014t0001 | a0008c0014t0001g0091 | 1 | 308 | 0.0033 | 11 | c.111 others(28): Show |
IFT88 | ENSG00000032742.18 | transcript | ENST00000351808.10 | protein_coding | 13/25 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
IFT88_chr13_20562157_20696444 | 20656122 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00673.hp2 HG00735.hp1 HG01071.hp1 others(30): Show |
a0001a0003a0005others(1): Show | a0001c0001a0003c0003a0003c0009others(2): Show | a0001c0001t0001a0003c0003t0001a0003c0009t0001others(2): Show | a0001c0001t0001g0010a0001c0001t0001g0017a0001c0001t0001g0159others(30): Show | 33 | 308 | 0.1071 | 11 | c.200 others(28): Show |
IFT88 | ENSG00000032742.18 | transcript | ENST00000351808.10 | protein_coding | 21/25 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
IFT88_chr13_20562157_20696444 | 20687855 | A | AAAAGAGT others(4): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01069.hp1 others(66): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0002c0002others(6): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(6): Show | a0001c0001t0001g0115a0001c0001t0001g0298a0001c0001t0001g0299others(66): Show | 69 | 308 | 0.2240 | 11 | c.224 others(30): Show |
IFT88 | ENSG00000032742.18 | transcript | ENST00000351808.10 | protein_coding | 24/25 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
IGBP1C_chr17_58655424_58697045 | 58659235 | T | TCCCAAAC others(4): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(221): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(206): Show | 224 | 368 | 0.6087 | 11 | c.*13 others(22): Show |
IGBP1C | ENSG00000266826.3 | transcript | ENST00000583666.3 | protein_coding | 1188 | chr17 | TogoVar | ||||||
IGBP1C_chr17_58655424_58697045 | 58678854 | A | AATAATAA others(4): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0191 | 1 | 368 | 0.0027 | 11 | c.-23 others(32): Show |
IGBP1C | ENSG00000266826.3 | transcript | ENST00000583666.3 | protein_coding | 1/1 | chr17 | TogoVar | ||||||
IGBP1_chrX_70128447_70171324 | 70154714 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01168.hp2 HG01516.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0015a0001c0001t0001g0056a0001c0001t0001g0062others(5): Show | 9 | 245 | 0.0367 | 11 | c.871 others(28): Show |
IGBP1 | ENSG00000089289.16 | transcript | ENST00000356413.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
IGDCC3_chr15_65322127_65383002 | 65323505 | T | TAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0015 | a0002c0015t0026 | a0002c0015t0026g0009 | 1 | 314 | 0.0032 | 11 | c.*54 others(22): Show |
IGDCC3 | ENSG00000174498.14 | transcript | ENST00000327987.9 | protein_coding | 3621 | chr15 | TogoVar | ||||||
IGDCC3_chr15_65322127_65383002 | 65370648 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 314 | 0.0032 | 11 | c.409 others(28): Show |
IGDCC3 | ENSG00000174498.14 | transcript | ENST00000327987.9 | protein_coding | 2/13 | chr15 | TogoVar | ||||||
IGDCC4_chr15_65376484_65427947 | 65412511 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02572.hp2 |
a0004a0006 | a0004c0006a0006c0013 | a0004c0006t0001a0006c0013t0001 | a0004c0006t0001g0052a0006c0013t0001g0112 | 2 | 352 | 0.0057 | 11 | c.71- others(26): Show |
IGDCC4 | ENSG00000103742.12 | transcript | ENST00000352385.3 | protein_coding | 1/19 | chr15 | TogoVar | ||||||
IGDCC4_chr15_65376484_65427947 | 65427301 | A | AATCCCAG others(4): Show |
upstream_gene_variant | MODIFIER | NA19081.hp1 | a0003 | a0003c0005 | a0003c0005t0003 | a0003c0005t0003g0166 | 1 | 352 | 0.0028 | 11 | c.-44 others(22): Show |
IGDCC4 | ENSG00000103742.12 | transcript | ENST00000352385.3 | protein_coding | 4355 | chr15 | TogoVar | ||||||
IGF1R_chr15_98643539_98969530 | 98661956 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02015.hp1 HG03927.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0095a0001c0002t0100 | a0001c0001t0095g0175a0001c0002t0100g0183 | 2 | 210 | 0.0095 | 11 | c.94+ others(28): Show |
IGF1R | ENSG00000140443.15 | transcript | ENST00000650285.1 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
IGF1R_chr15_98643539_98969530 | 98895020 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0128 | a0001c0001t0128g0018 | 1 | 210 | 0.0048 | 11 | c.954 others(28): Show |
IGF1R | ENSG00000140443.15 | transcript | ENST00000650285.1 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
IGF1_chr12_102390874_102485563 | 102452261 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0080 | 1 | 360 | 0.0028 | 11 | c.220 others(30): Show |
IGF1 | ENSG00000017427.17 | transcript | ENST00000337514.11 | protein_coding | 2/3 | chr12 | TogoVar | ||||||
IGF1_chr12_102390874_102485563 | 102458730 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00741.hp1 HG01123.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0063a0001c0001t0001g0067a0001c0001t0001g0069others(33): Show | 36 | 360 | 0.1000 | 11 | c.220 others(30): Show |
IGF1 | ENSG00000017427.17 | transcript | ENST00000337514.11 | protein_coding | 2/3 | chr12 | TogoVar | ||||||
IGF2BP1_chr17_48992385_49061145 | 49059984 | C | CAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00735.hp2 HG01074.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0011others(6): Show | a0001c0001t0002g0052a0001c0001t0002g0077a0001c0001t0002g0093others(17): Show | 20 | 318 | 0.0629 | 11 | c.*10 others(24): Show |
IGF2BP1 | ENSG00000159217.10 | transcript | ENST00000290341.8 | protein_coding | 3840 | chr17 | TogoVar | ||||||
IGF2BP1_chr17_48992385_49061145 | 49060466 | C | CTTTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | HG01257.hp2 NA18522.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0017 | a0001c0001t0005g0309a0001c0001t0017g0148a0001c0001t0017g0276 | 3 | 318 | 0.0094 | 11 | c.*11 others(24): Show |
IGF2BP1 | ENSG00000159217.10 | transcript | ENST00000290341.8 | protein_coding | 4322 | chr17 | TogoVar | ||||||
IGF2_chr11_2124117_2144389 | 2127043 | G | GGATGGGT others(4): Show |
downstream_gene_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0081 | a0001c0001t0081g0079 | 1 | 388 | 0.0026 | 11 | c.*59 others(22): Show |
IGF2 | ENSG00000167244.22 | transcript | ENST00000416167.7 | protein_coding | 2073 | chr11 | TogoVar | ||||||
IGF2_chr11_2124117_2144389 | 2127186 | G | GGGATGAT others(4): Show |
downstream_gene_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0087 | 1 | 388 | 0.0026 | 11 | c.*58 others(22): Show |
IGF2 | ENSG00000167244.22 | transcript | ENST00000416167.7 | protein_coding | 1930 | chr11 | TogoVar | ||||||
IGF2_chr11_2124117_2144389 | 2127209 | A | AGGGTGGG others(4): Show |
downstream_gene_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0022 | 1 | 388 | 0.0026 | 11 | c.*57 others(22): Show |
IGF2 | ENSG00000167244.22 | transcript | ENST00000416167.7 | protein_coding | 1907 | chr11 | TogoVar | ||||||
IGF2_chr11_2124117_2144389 | 2138194 | C | CCCCGGCC others(4): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0133 | 1 | 388 | 0.0026 | 11 | c.-7+ others(22): Show |
IGF2 | ENSG00000167244.22 | transcript | ENST00000416167.7 | protein_coding | 1/3 | chr11 | TogoVar | ||||||
IGFBP2_chr2_216628420_216669436 | 216634906 | T | TTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00423.hp2 others(68): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0020others(64): Show | 71 | 402 | 0.1766 | 11 | c.442 others(26): Show |
IGFBP2 | ENSG00000115457.10 | transcript | ENST00000233809.9 | protein_coding | 1/3 | chr2 | TogoVar | ||||||
IGFBP5_chr2_216667105_216700549 | 216667524 | A | AAGACCAG others(4): Show |
downstream_gene_variant | MODIFIER | NA19075.hp2 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0146 | 1 | 422 | 0.0024 | 11 | c.*92 others(22): Show |
IGFBP5 | ENSG00000115461.5 | transcript | ENST00000233813.5 | protein_coding | 4580 | chr2 | TogoVar | ||||||
IGFL2_chr19_46143238_46166289 | 46149213 | C | CCTTTTCT others(4): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0144 | 1 | 452 | 0.0022 | 11 | c.19+ others(24): Show |
IGFL2 | ENSG00000204866.9 | transcript | ENST00000377693.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
IGHMBP2_chr11_68898891_68945601 | 68904803 | C | CTTTTCTT others(4): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0017 | a0017c0020 | a0017c0020t0007 | a0017c0020t0007g0127 | 1 | 374 | 0.0027 | 11 | c.86+ others(24): Show |
IGHMBP2 | ENSG00000132740.10 | transcript | ENST00000255078.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
IGHMBP2_chr11_68898891_68945601 | 68904803 | C | CTTTTCTT others(4): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(100): Show |
a0003a0004a0005others(1): Show | a0003c0003a0003c0021a0003c0031others(3): Show | a0003c0003t0002a0003c0003t0003a0003c0003t0007others(11): Show | a0003c0003t0002g0018a0003c0003t0003g0001a0003c0003t0003g0005others(90): Show | 103 | 374 | 0.2754 | 11 | c.86+ others(24): Show |
IGHMBP2 | ENSG00000132740.10 | transcript | ENST00000255078.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
IGHMBP2_chr11_68898891_68945601 | 68913043 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0265 | 1 | 374 | 0.0027 | 11 | c.711 others(28): Show |
IGHMBP2 | ENSG00000132740.10 | transcript | ENST00000255078.8 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
IGHMBP2_chr11_68898891_68945601 | 68915166 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01169.hp1 HG03834.hp1 |
a0016a0019 | a0016c0019a0019c0024 | a0016c0019t0002a0019c0024t0002 | a0016c0019t0002g0299a0019c0024t0002g0297 | 2 | 374 | 0.0054 | 11 | c.912 others(26): Show |
IGHMBP2 | ENSG00000132740.10 | transcript | ENST00000255078.8 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
IGLON5_chr19_51306644_51335891 | 51313647 | T | TTTCTTTC others(4): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 418 | 0.0024 | 11 | c.79+ others(26): Show |
IGLON5 | ENSG00000142549.10 | transcript | ENST00000270642.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
IGLON5_chr19_51306644_51335891 | 51328339 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0025 | 2 | 418 | 0.0048 | 11 | c.923 others(26): Show |
IGLON5 | ENSG00000142549.10 | transcript | ENST00000270642.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
IGSF11_chr3_118895557_119039846 | 118975363 | T | TTAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02559.hp1 HG02559.hp2 others(9): Show |
a0001 | a0001c0001a0001c0004a0001c0008 | a0001c0001t0010a0001c0004t0007a0001c0008t0019 | a0001c0001t0010g0161a0001c0001t0010g0162a0001c0001t0010g0163others(9): Show | 12 | 360 | 0.0333 | 11 | c.53- others(28): Show |
IGSF11 | ENSG00000144847.13 | transcript | ENST00000393775.7 | protein_coding | 1/6 | chr3 | TogoVar | ||||||
IGSF11_chr3_118895557_119039846 | 119003541 | T | TGTCTTGT others(4): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02451.hp2 HG02559.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0277a0001c0001t0010g0161a0001c0001t0010g0162others(2): Show | 5 | 360 | 0.0139 | 11 | c.52+ others(28): Show |
IGSF11 | ENSG00000144847.13 | transcript | ENST00000393775.7 | protein_coding | 1/6 | chr3 | TogoVar | ||||||
IGSF21_chr1_18102798_18383483 | 18106300 | C | CAAAAAAA others(4): Show |
upstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0186 | 1 | 248 | 0.0040 | 11 | c.-18 others(22): Show |
IGSF21 | ENSG00000117154.12 | transcript | ENST00000251296.4 | protein_coding | 1497 | chr1 | TogoVar | ||||||
IGSF21_chr1_18102798_18383483 | 18232209 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(162): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(162): Show | 165 | 248 | 0.6653 | 11 | c.183 others(28): Show |
IGSF21 | ENSG00000117154.12 | transcript | ENST00000251296.4 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
IGSF21_chr1_18102798_18383483 | 18273039 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01168.hp1 HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0004g0002 | 3 | 248 | 0.0121 | 11 | c.184 others(30): Show |
IGSF21 | ENSG00000117154.12 | transcript | ENST00000251296.4 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
IGSF21_chr1_18102798_18383483 | 18273331 | A | ACGCCCTT others(4): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0005 | a0005c0008 | a0005c0008t0003 | a0005c0008t0003g0146 | 1 | 248 | 0.0040 | 11 | c.184 others(30): Show |
IGSF21 | ENSG00000117154.12 | transcript | ENST00000251296.4 | protein_coding | 2/9 | chr1 | TogoVar | ||||||
IGSF21_chr1_18102798_18383483 | 18281064 | G | GAACTCCT others(4): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01358.hp2 HG02145.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0020a0001c0001t0002g0110a0001c0001t0003g0221others(3): Show | 6 | 248 | 0.0242 | 11 | c.184 others(30): Show |
IGSF21 | ENSG00000117154.12 | transcript | ENST00000251296.4 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
IGSF21_chr1_18102798_18383483 | 18367603 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00738.hp2 HG01243.hp1 others(6): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(3): Show | a0001c0001t0001g0010a0001c0001t0001g0101a0001c0001t0001g0108others(6): Show | 9 | 248 | 0.0363 | 11 | c.101 others(30): Show |
IGSF21 | ENSG00000117154.12 | transcript | ENST00000251296.4 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
IGSF5_chr21_39740183_39807081 | 39748301 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01070.hp2 HG01071.hp2 others(7): Show |
a0002a0010 | a0002c0005a0010c0013 | a0002c0005t0003a0010c0013t0003 | a0002c0005t0003g0005a0002c0005t0003g0161a0002c0005t0003g0162others(4): Show | 10 | 352 | 0.0284 | 11 | c.100 others(28): Show |
IGSF5 | ENSG00000183067.6 | transcript | ENST00000380588.5 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
IGSF5_chr21_39740183_39807081 | 39773477 | T | TCTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01257.hp1 HG01258.hp1 others(14): Show |
a0005a0006a0009others(3): Show | a0005c0007a0006c0008a0009c0012others(3): Show | a0005c0007t0003a0006c0008t0005a0009c0012t0005others(3): Show | a0005c0007t0003g0175a0006c0008t0005g0008a0006c0008t0005g0009others(11): Show | 17 | 352 | 0.0483 | 11 | c.718 others(28): Show |
IGSF5 | ENSG00000183067.6 | transcript | ENST00000380588.5 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
IGSF8_chr1_160086343_160103619 | 160099717 | T | TTAGTTTA others(4): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(191): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(15): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0008others(33): Show | 194 | 416 | 0.4664 | 11 | c.-12 others(22): Show |
IGSF8 | ENSG00000162729.14 | transcript | ENST00000314485.12 | protein_coding | 1099 | chr1 | TogoVar | ||||||
IGSF8_chr1_160086343_160103619 | 160102723 | G | GTGTGTGT others(4): Show |
upstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 416 | 0.0024 | 11 | c.-42 others(22): Show |
IGSF8 | ENSG00000162729.14 | transcript | ENST00000314485.12 | protein_coding | 4105 | chr1 | TogoVar | ||||||
IGSF9B_chr11_133891438_133961968 | 133901840 | A | ACACCACA others(4): Show |
3_prime_UTR_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0003 | a0001c0003t0128 | a0001c0003t0128g0283 | 1 | 362 | 0.0028 | 11 | c.*72 others(22): Show |
IGSF9B | ENSG00000080854.16 | transcript | ENST00000533871.8 | protein_coding | 20/20 | 7228 | chr11 | TogoVar |