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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HTT_chr4_3069681_3248957 | 3074876 | CCAGCAGC others(2): Show |
C | disruptive_inframe_deletion | MODERATE | HG00735.hp2 HG02071.hp2 HG02145.hp1 others(16): Show |
a0007a0016a0028others(1): Show | a0007c0005a0007c0019a0007c0067others(5): Show | a0007c0005t0001a0007c0019t0001a0007c0067t0001others(6): Show | a0007c0005t0001g0001 a0007c0005t0001g0049 a0007c0005t0001g0050 others(15): Show |
19 | 294 | 0.0646 | -9 | c.102 others(16): Show |
p.Gln others(11): Show |
HTT | ENSG00000197386.14 | transcript | ENST00000355072.11 | protein_coding | 1/67 | 247/13472 | 102/9429 | 34/3142 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||
HTT_chr4_3069681_3248957 | 3149578 | GATTACGG others(2): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG01515.hp2 HG01884.hp1 others(17): Show |
a0001a0006a0010others(8): Show | a0001c0086a0006c0057a0010c0105others(10): Show | a0001c0086t0003a0006c0057t0007a0010c0105t0003others(11): Show | a0001c0086t0003g0093 a0006c0057t0007g0200 a0010c0105t0003g0029 others(17): Show |
20 | 294 | 0.0680 | -9 | c.349 others(28): Show |
HTT | ENSG00000197386.14 | transcript | ENST00000355072.11 | protein_coding | 26/66 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HTT_chr4_3069681_3248957 | 3239417 | GGAGTTTC others(2): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00597.hp2 others(71): Show |
a0001a0002a0003others(12): Show | a0001c0034a0002c0001a0002c0030others(19): Show | a0001c0034t0002a0002c0001t0002a0002c0001t0013others(23): Show | a0001c0034t0002g0221 a0001c0034t0002g0278 a0002c0001t0002g0191 others(71): Show |
74 | 294 | 0.2517 | -9 | c.921 others(26): Show |
HTT | ENSG00000197386.14 | transcript | ENST00000355072.11 | protein_coding | 66/66 | chr4 | TogoVar | |||||||
HUNK_chr21_31868020_32009064 | 31979512 | ATTCTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG02027.hp1 HG02922.hp1 others(3): Show |
a0001a0002a0007 | a0001c0001a0001c0005a0002c0003others(1): Show | a0001c0001t0001a0001c0005t0015a0002c0003t0003others(3): Show | a0001c0001t0001g0238 a0001c0005t0015g0153 a0002c0003t0003g0256 others(3): Show |
6 | 328 | 0.0183 | -9 | c.117 others(28): Show |
HUNK | ENSG00000142149.9 | transcript | ENST00000270112.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
HUWE1_chrX_53527096_53691719 | 53577479 | CCCTCTCC others(2): Show |
C | intron_variant | MODIFIER | HG01978.hp1 HG02622.hp1 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0004a0001c0008t0004 | a0001c0001t0004g0190 a0001c0008t0004g0208 |
2 | 214 | 0.0094 | -9 | c.571 others(26): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | TogoVar | |||||||
HUWE1_chrX_53527096_53691719 | 53579755 | TCGTTAAG others(2): Show |
T | intron_variant | MODIFIER | HG02602.hp1 HG02735.hp1 HG04184.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0010 | a0001c0001t0006g0003 a0001c0001t0006g0004 a0001c0001t0010g0002 |
3 | 214 | 0.0140 | -9 | c.571 others(28): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | TogoVar | |||||||
HUWE1_chrX_53527096_53691719 | 53645733 | AAAAATAT others(2): Show |
A | intron_variant | MODIFIER | HG01884.hp1 NA18995.hp1 |
a0001 | a0001c0001a0001c0020 | a0001c0001t0004a0001c0020t0003 | a0001c0001t0004g0193 a0001c0020t0003g0030 |
2 | 214 | 0.0094 | -9 | c.352 others(24): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 6/83 | chrX | TogoVar | |||||||
HUWE1_chrX_53527096_53691719 | 53645735 | AAATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00597.hp1 HG02015.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(1): Show | a0001c0001t0001g0091 a0001c0001t0004g0001 a0001c0001t0004g0191 others(10): Show |
14 | 214 | 0.0654 | -9 | c.352 others(24): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 6/83 | chrX | TogoVar | |||||||
HUWE1_chrX_53527096_53691719 | 53645737 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00558.hp1 others(50): Show |
a0001a0004 | a0001c0001a0001c0007a0004c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0063 a0001c0001t0001g0070 a0001c0001t0001g0071 others(50): Show |
53 | 214 | 0.2477 | -9 | c.352 others(24): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 6/83 | chrX | TogoVar | |||||||
HUWE1_chrX_53527096_53691719 | 53671791 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0009 | 1 | 214 | 0.0047 | -9 | c.-25 others(26): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | TogoVar | |||||||
HYAL1_chr3_50294893_50308574 | 50304297 | ATATATAT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG01169.hp2 HG02615.hp1 HG03130.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0004g0012 |
5 | 384 | 0.0130 | -9 | c.-86 others(18): Show |
HYAL1 | ENSG00000114378.17 | transcript | ENST00000395144.7 | protein_coding | 724 | chr3 | TogoVar | |||||||
HYAL3_chr3_50287832_50304405 | 50304297 | ATATATAT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG01169.hp2 HG02615.hp2 HG03130.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0010 |
5 | 378 | 0.0132 | -9 | c.-51 others(20): Show |
HYAL3 | ENSG00000186792.17 | transcript | ENST00000336307.6 | protein_coding | 4893 | chr3 | TogoVar | |||||||
HYCC1_chr7_22929211_23019130 | 22940236 | GTTTTTTT others(2): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(144): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0002c0005others(1): Show | a0001c0001t0007a0001c0001t0013a0001c0001t0024others(42): Show | a0001c0001t0007g0221 a0001c0001t0013g0059 a0001c0001t0013g0070 others(131): Show |
147 | 386 | 0.3808 | -9 | c.*53 others(20): Show |
HYCC1 | ENSG00000122591.13 | transcript | ENST00000432176.7 | protein_coding | 11/11 | 5344 | chr7 | TogoVar | ||||||
HYDIN_chr16_70797084_71235722 | 71110288 | GATATAAT others(2): Show |
G | intron_variant | MODIFIER | HG02602.hp1 HG02965.hp2 |
a0029a0034 | a0029c0025a0034c0086 | a0029c0025t0001a0034c0086t0038 | a0029c0025t0001g0060 a0034c0086t0038g0174 |
2 | 174 | 0.0115 | -9 | c.132 others(28): Show |
HYDIN | ENSG00000157423.18 | transcript | ENST00000393567.7 | protein_coding | 10/85 | chr16 | TogoVar | |||||||
HYLS1_chr11_125882668_125905646 | 125886572 | ATTTTTTT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG00558.hp1 others(71): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0003g0046 others(22): Show |
74 | 436 | 0.1697 | -9 | c.-12 others(20): Show |
HYLS1 | ENSG00000198331.11 | transcript | ENST00000425380.7 | protein_coding | 1095 | chr11 | TogoVar | |||||||
HYOU1_chr11_119039188_119062205 | 119050719 | CCAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG01106.hp1 HG01109.hp2 others(12): Show |
a0001a0002a0005 | a0001c0003a0001c0007a0001c0012others(3): Show | a0001c0003t0003a0001c0003t0004a0001c0007t0009others(4): Show | a0001c0003t0003g0046 a0001c0003t0003g0051 a0001c0003t0003g0116 others(9): Show |
15 | 414 | 0.0362 | -9 | c.166 others(26): Show |
HYOU1 | ENSG00000149428.21 | transcript | ENST00000617285.5 | protein_coding | 14/25 | chr11 | TogoVar | |||||||
IARS1_chr9_92205207_92298697 | 92252764 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp1 HG01168.hp1 others(15): Show |
a0002a0003 | a0002c0004a0003c0006 | a0002c0004t0003a0002c0004t0006a0002c0004t0007others(1): Show | a0002c0004t0003g0018 a0002c0004t0003g0019 a0002c0004t0003g0021 others(15): Show |
18 | 338 | 0.0533 | -9 | c.222 others(26): Show |
IARS1 | ENSG00000196305.19 | transcript | ENST00000443024.7 | protein_coding | 21/33 | chr9 | TogoVar | |||||||
IARS2_chr1_220089132_220153041 | 220146517 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02451.hp2 HG02622.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0115 a0001c0001t0001g0267 others(3): Show |
7 | 366 | 0.0191 | -9 | c.289 others(26): Show |
IARS2 | ENSG00000067704.10 | transcript | ENST00000366922.3 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ICA1_chr7_8108184_8267167 | 8197574 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02895.hp2 NA19043.hp2 |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0002a0001c0002t0003a0001c0009t0003 | a0001c0001t0002g0125 a0001c0002t0003g0087 a0001c0009t0003g0274 |
3 | 274 | 0.0110 | -9 | c.579 others(28): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 6/13 | chr7 | TogoVar | |||||||
ICA1_chr7_8108184_8267167 | 8219119 | AATGAAAG others(2): Show |
A | intron_variant | MODIFIER | HG01346.hp2 HG02976.hp1 HG03130.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0002g0170 a0001c0001t0003g0006 a0001c0001t0005g0090 others(2): Show |
5 | 274 | 0.0183 | -9 | c.381 others(24): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 5/13 | chr7 | TogoVar | |||||||
ICE1_chr5_5417677_5495220 | 5480276 | GTCTGGCT others(2): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02258.hp1 others(23): Show |
a0005a0006a0010 | a0005c0007a0005c0036a0006c0008others(1): Show | a0005c0007t0001a0005c0036t0001a0006c0008t0001others(2): Show | a0005c0007t0001g0018 a0005c0007t0001g0040 a0005c0007t0001g0041 others(20): Show |
26 | 364 | 0.0714 | -9 | c.652 others(28): Show |
ICE1 | ENSG00000164151.12 | transcript | ENST00000296564.9 | protein_coding | 17/18 | chr5 | TogoVar | |||||||
IDE_chr10_92446684_92579093 | 92501362 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00733.hp1 HG00735.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 others(13): Show |
16 | 314 | 0.0510 | -9 | c.143 others(28): Show |
IDE | ENSG00000119912.18 | transcript | ENST00000265986.11 | protein_coding | 11/24 | chr10 | TogoVar | |||||||
IDE_chr10_92446684_92579093 | 92524439 | AATATATT others(2): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG01261.hp1 HG01346.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0004 | a0001c0001t0001g0231 a0001c0001t0003g0226 a0001c0001t0003g0228 others(14): Show |
17 | 314 | 0.0541 | -9 | c.661 others(26): Show |
IDE | ENSG00000119912.18 | transcript | ENST00000265986.11 | protein_coding | 4/24 | chr10 | TogoVar | |||||||
IDH1_chr2_208231229_208260071 | 208245546 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02622.hp1 HG02809.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009 | a0001c0001t0001g0037 a0001c0001t0001g0107 a0001c0001t0001g0109 others(3): Show |
7 | 358 | 0.0196 | -9 | c.415 others(24): Show |
IDH1 | ENSG00000138413.14 | transcript | ENST00000345146.7 | protein_coding | 4/9 | chr2 | TogoVar | |||||||
IDH3B_chr20_2653395_2669216 | 2665220 | ATTTTTTT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG01361.hp1 HG02257.hp2 HG02300.hp2 others(10): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0002a0003c0006t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0060 others(2): Show |
13 | 440 | 0.0296 | -9 | c.-10 others(20): Show |
IDH3B | ENSG00000101365.21 | transcript | ENST00000380843.9 | protein_coding | 1005 | chr20 | TogoVar | |||||||
IDH3G_chrX_153780768_153799375 | 153781115 | ACAGCGGC others(2): Show |
A | downstream_gene_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 299 | 0.0033 | -9 | c.*47 others(20): Show |
IDH3G | ENSG00000067829.20 | transcript | ENST00000217901.10 | protein_coding | 4652 | chrX | TogoVar | |||||||
IDNK_chr9_83618143_83649123 | 83632557 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG02040.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0183 others(6): Show |
16 | 332 | 0.0482 | -9 | c.168 others(26): Show |
IDNK | ENSG00000148057.16 | transcript | ENST00000376419.5 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
IDO2_chr8_39929651_40021392 | 39935424 | GGTTGTTG others(2): Show |
G | intron_variant | MODIFIER | HG00597.hp2 HG00621.hp2 HG00639.hp1 others(80): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0003c0003others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(11): Show | a0001c0001t0001g0295 a0001c0001t0001g0323 a0001c0001t0001g0330 others(80): Show |
83 | 360 | 0.2306 | -9 | c.-18 others(24): Show |
IDO2 | ENSG00000188676.15 | transcript | ENST00000502986.4 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
IDO2_chr8_39929651_40021392 | 39965897 | GGACTTCT others(2): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(268): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0007a0002c0002others(17): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(56): Show | a0001c0001t0001g0295 a0001c0001t0001g0323 a0001c0001t0001g0330 others(267): Show |
271 | 360 | 0.7528 | -9 | c.195 others(26): Show |
IDO2 | ENSG00000188676.15 | transcript | ENST00000502986.4 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
IDO2_chr8_39929651_40021392 | 39984276 | ACCAGCGT others(2): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG01943.hp1 HG04204.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008a0001c0001t0011others(1): Show | a0001c0001t0004g0116 a0001c0001t0004g0287 a0001c0001t0004g0299 others(12): Show |
15 | 360 | 0.0417 | -9 | c.435 others(26): Show |
IDO2 | ENSG00000188676.15 | transcript | ENST00000502986.4 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
IER3IP1_chr18_47147834_47181364 | 47179060 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00597.hp1 HG00639.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0023 | a0001c0001t0005g0002 a0001c0001t0005g0024 a0001c0001t0005g0046 others(11): Show |
33 | 378 | 0.0873 | -9 | c.-27 others(20): Show |
IER3IP1 | ENSG00000134049.6 | transcript | ENST00000256433.6 | protein_coding | 2697 | chr18 | TogoVar | |||||||
IER5L_chr9_129170552_129183261 | 129177693 | CAGCTGGT others(2): Show |
C | disruptive_inframe_deletion | MODERATE | HG01891.hp1 HG02055.hp1 HG02055.hp2 others(3): Show |
a0003a0004a0006 | a0003c0006a0003c0007a0004c0013others(1): Show | a0003c0006t0001a0003c0007t0001a0004c0013t0001others(1): Show | a0003c0006t0001g0000 a0003c0007t0001g0000 a0004c0013t0001g0000 others(1): Show |
6 | 426 | 0.0141 | -9 | c.351 others(16): Show |
p.His others(13): Show |
IER5L | ENSG00000188483.8 | transcript | ENST00000372491.4 | protein_coding | 1/1 | 568/2710 | 351/1215 | 117/404 | chr9 | TogoVar | |||
IER5_chr1_181083700_181097900 | 181096623 | CTTTTTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG01099.hp2 HG02129.hp2 HG02132.hp2 others(15): Show |
a0001a0003a0005 | a0001c0006a0003c0003a0005c0005 | a0001c0006t0004a0003c0003t0004a0005c0005t0004others(1): Show | a0001c0006t0004g0000 a0003c0003t0004g0000 a0005c0005t0004g0000 others(1): Show |
18 | 374 | 0.0481 | -9 | c.*67 others(20): Show |
IER5 | ENSG00000162783.11 | transcript | ENST00000367577.7 | protein_coding | 3724 | chr1 | TogoVar | |||||||
IFI27_chr14_94105736_94121690 | 94115784 | TGGCCATG others(2): Show |
T | disruptive_inframe_deletion | MODERATE | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(147): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0008 others(19): Show |
150 | 467 | 0.3212 | -9 | c.129 others(16): Show |
p.Met others(11): Show |
IFI27 | ENSG00000165949.13 | transcript | ENST00000621160.5 | protein_coding | 4/5 | 249/652 | 129/369 | 43/122 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||
IFI44L_chr1_78615448_78651145 | 78623396 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp1 others(52): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0001t0001g0032 others(27): Show |
55 | 430 | 0.1279 | -9 | c.-11 others(26): Show |
IFI44L | ENSG00000137959.17 | transcript | ENST00000370751.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
IFIT3_chr10_89322997_89345968 | 89334478 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02559.hp1 HG02896.hp2 others(3): Show |
a0001a0003 | a0001c0003a0003c0007 | a0001c0003t0006a0001c0003t0015a0003c0007t0027 | a0001c0003t0006g0015 a0001c0003t0006g0094 a0001c0003t0015g0015 others(1): Show |
6 | 402 | 0.0149 | -9 | c.6-4 others(22): Show |
IFIT3 | ENSG00000119917.15 | transcript | ENST00000371818.9 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
IFNA4_chr9_21181618_21192587 | 21184313 | CTTCCTTC others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG01069.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 15 | 428 | 0.0351 | -9 | c.*26 others(20): Show |
IFNA4 | ENSG00000236637.5 | transcript | ENST00000421715.3 | protein_coding | 2304 | chr9 | TogoVar | |||||||
IFNAR2_chr21_33224938_33270664 | 33234667 | GGGTTTGT others(2): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00423.hp1 others(155): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0004a0002c0002t0002a0002c0002t0004others(21): Show | a0001c0001t0004g0061 a0002c0002t0002g0003 a0002c0002t0002g0007 others(142): Show |
158 | 424 | 0.3726 | -9 | c.-84 others(26): Show |
IFNAR2 | ENSG00000159110.22 | transcript | ENST00000342136.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
IFNGR2_chr21_33398413_33442516 | 33401630 | TAAATAAA others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01109.hp1 HG01891.hp1 others(10): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0006a0003c0003t0001 | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0084 others(7): Show |
13 | 386 | 0.0337 | -9 | c.-19 others(20): Show |
IFNGR2 | ENSG00000159128.16 | transcript | ENST00000290219.11 | protein_coding | 1782 | chr21 | TogoVar | |||||||
IFNGR2_chr21_33398413_33442516 | 33424876 | GATTACTG others(2): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(123): Show |
a0001a0006a0007others(2): Show | a0001c0001a0001c0011a0006c0007others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 others(111): Show |
126 | 386 | 0.3264 | -9 | c.413 others(26): Show |
IFNGR2 | ENSG00000159128.16 | transcript | ENST00000290219.11 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
IFNK_chr9_27519290_27531498 | 27522420 | CATATATA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02257.hp1 HG02257.hp2 others(6): Show |
a0001a0004 | a0001c0006a0001c0008a0004c0004 | a0001c0006t0007a0001c0008t0007a0004c0004t0005 | a0001c0006t0007g0014 a0001c0008t0007g0015 a0004c0004t0005g0009 |
9 | 448 | 0.0201 | -9 | c.-19 others(20): Show |
IFNK | ENSG00000147896.4 | transcript | ENST00000276943.3 | protein_coding | 1869 | chr9 | TogoVar | |||||||
IFNL1_chr19_39291407_39303673 | 39299192 | TAAAAAAA others(2): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00733.hp2 HG01070.hp2 others(36): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0010others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0002c0002t0001g0001 others(11): Show |
39 | 302 | 0.1291 | -9 | c.*67 others(18): Show |
IFNL1 | ENSG00000182393.3 | transcript | ENST00000333625.3 | protein_coding | 520 | chr19 | TogoVar | |||||||
IFNLR1_chr1_24149168_24192289 | 24162715 | CTTTCTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00735.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0127 a0001c0001t0001g0282 a0001c0001t0003g0124 others(15): Show |
18 | 396 | 0.0455 | -9 | c.368 others(26): Show |
IFNLR1 | ENSG00000185436.12 | transcript | ENST00000327535.6 | protein_coding | 3/6 | chr1 | TogoVar | |||||||
IFRD1_chr7_112445460_112482203 | 112463885 | CACACACA others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG01978.hp1 HG02257.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0022 | a0001c0001t0003g0047 a0001c0001t0005g0040 a0001c0001t0005g0041 others(3): Show |
8 | 374 | 0.0214 | -9 | c.906 others(26): Show |
IFRD1 | ENSG00000006652.15 | transcript | ENST00000403825.8 | protein_coding | 8/11 | chr7 | TogoVar | |||||||
IFRD1_chr7_112445460_112482203 | 112463886 | ACACACAC others(2): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01074.hp1 HG02818.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0003t0005 | a0001c0001t0004g0023 a0001c0001t0004g0202 a0001c0001t0004g0218 others(1): Show |
6 | 374 | 0.0160 | -9 | c.906 others(26): Show |
IFRD1 | ENSG00000006652.15 | transcript | ENST00000403825.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
IFT172_chr2_27439377_27494743 | 27446865 | AATTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG01109.hp2 HG03490.hp2 others(1): Show |
a0001a0007a0008 | a0001c0001a0007c0020a0008c0017 | a0001c0001t0002a0007c0020t0002a0008c0017t0002 | a0001c0001t0002g0017 a0007c0020t0002g0168 a0008c0017t0002g0167 |
4 | 224 | 0.0179 | -9 | c.466 others(26): Show |
IFT172 | ENSG00000138002.16 | transcript | ENST00000260570.8 | protein_coding | 42/47 | chr2 | TogoVar | |||||||
IFT22_chr7_101305914_101326812 | 101313727 | CAAATTCT others(2): Show |
C | 3_prime_UTR_variant | MODIFIER | NA18998.hp2 NA19056.hp1 NA19064.hp1 |
a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0030 | 3 | 410 | 0.0073 | -9 | c.*13 others(20): Show |
IFT22 | ENSG00000128581.17 | transcript | ENST00000315322.10 | protein_coding | 5/5 | 1398 | chr7 | TogoVar | ||||||
IFT52_chr20_43585937_43652299 | 43626797 | AAGTGTTG others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(162): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0002a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0012 others(155): Show |
165 | 300 | 0.5500 | -9 | c.923 others(26): Show |
IFT52 | ENSG00000101052.13 | transcript | ENST00000373030.8 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
IFT52_chr20_43585937_43652299 | 43649992 | AGGAGAGA others(2): Show |
A | downstream_gene_variant | MODIFIER | HG02486.hp1 HG02886.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 |
3 | 300 | 0.0100 | -9 | c.*30 others(20): Show |
IFT52 | ENSG00000101052.13 | transcript | ENST00000373030.8 | protein_coding | 2694 | chr20 | TogoVar | |||||||
IFT56_chr7_139128778_139196986 | 139157139 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00544.hp2 others(77): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0005 | a0001c0001t0001a0001c0001t0014a0001c0001t0018others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0012 others(61): Show |
80 | 330 | 0.2424 | -9 | c.718 others(26): Show |
IFT56 | ENSG00000105948.13 | transcript | ENST00000464848.5 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |