| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HTRA1_chr10_122456553_122519907 | 122506096 | T | TCTTGCTG others(17): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(341): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0007others(324): Show | 344 | 362 | 0.9503 | 24 | c.778 others(39): Show |
HTRA1 | ENSG00000166033.13 | transcript | ENST00000368984.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| HTRA1_chr10_122456553_122519907 | 122506096 | T | TCTTGTTG others(17): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0226 | 1 | 362 | 0.0028 | 24 | c.778 others(39): Show |
HTRA1 | ENSG00000166033.13 | transcript | ENST00000368984.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| HTRA3_chr4_8264754_8312098 | 8288878 | T | TTTCCTTC others(17): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 2 | 388 | 0.0052 | 24 | c.708 others(41): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| HTT_chr4_3069681_3248957 | 3074935 | A | AGCAGCAG others(17): Show |
disruptive_inframe_insertion | MODERATE | NA18984.hp1 | a0087 | a0087c0119 | a0087c0119t0022 | a0087c0119t0022g0207 | 1 | 294 | 0.0034 | 24 | c.110 others(31): Show |
p.Gln others(35): Show |
HTT | ENSG00000197386.14 | transcript | ENST00000355072.11 | protein_coding | 1/67 | 256/13472 | 111/9429 | 37/3142 | chr4 | TogoVar | ||
| HTT_chr4_3069681_3248957 | 3248117 | C | CTGCCTGA others(17): Show |
downstream_gene_variant | MODIFIER | HG01070.hp2 | a0018 | a0018c0019 | a0018c0019t0001 | a0018c0019t0001g0233 | 1 | 294 | 0.0034 | 24 | c.*80 others(35): Show |
HTT | ENSG00000197386.14 | transcript | ENST00000355072.11 | protein_coding | 4161 | chr4 | TogoVar | ||||||
| HUNK_chr21_31868020_32009064 | 31900446 | A | AACACACA others(17): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0004 | a0001c0004t0011 | a0001c0004t0011g0077 | 1 | 328 | 0.0031 | 24 | c.262 others(43): Show |
HUNK | ENSG00000142149.9 | transcript | ENST00000270112.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| HYAL1_chr3_50294893_50308574 | 50304296 | A | AATATATA others(17): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 384 | 0.0026 | 24 | c.-87 others(33): Show |
HYAL1 | ENSG00000114378.17 | transcript | ENST00000395144.7 | protein_coding | 723 | chr3 | TogoVar | ||||||
| HYAL3_chr3_50287832_50304405 | 50304296 | A | AATATATA others(17): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 HG02109.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 378 | 0.0053 | 24 | c.-51 others(35): Show |
HYAL3 | ENSG00000186792.17 | transcript | ENST00000336307.6 | protein_coding | 4892 | chr3 | TogoVar | ||||||
| HYAL4_chr7_123840169_123882481 | 123857644 | C | CCTTTCTT others(17): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03098.hp2 NA20129.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0006 | a0001c0001t0002g0053a0003c0003t0006g0058a0003c0003t0006g0059 | 3 | 394 | 0.0076 | 24 | c.-52 others(41): Show |
HYAL4 | ENSG00000106302.10 | transcript | ENST00000223026.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| HYAL4_chr7_123840169_123882481 | 123857660 | T | TCTTTGTT others(17): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0071 | 1 | 394 | 0.0025 | 24 | c.-52 others(41): Show |
HYAL4 | ENSG00000106302.10 | transcript | ENST00000223026.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| HYCC2_chr2_200968718_201076671 | 201047445 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG03453.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0024 | a0001c0001t0011g0159a0001c0001t0024g0166 | 2 | 176 | 0.0114 | 24 | c.-12 others(43): Show |
HYCC2 | ENSG00000155744.10 | transcript | ENST00000681958.1 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
| HYCC2_chr2_200968718_201076671 | 201076484 | A | AATATATA others(17): Show |
upstream_gene_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0144 | 1 | 176 | 0.0057 | 24 | c.-50 others(35): Show |
HYCC2 | ENSG00000155744.10 | transcript | ENST00000681958.1 | protein_coding | 4814 | chr2 | TogoVar | ||||||
| HYDIN_chr16_70797084_71235722 | 70834980 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02451.hp1 HG02622.hp2 others(3): Show |
a0001a0008a0030others(1): Show | a0001c0062a0008c0016a0008c0056others(2): Show | a0001c0062t0013a0008c0016t0010a0008c0056t0010others(2): Show | a0001c0062t0013g0104a0008c0016t0010g0024a0008c0016t0010g0034others(3): Show | 6 | 174 | 0.0345 | 24 | c.134 others(43): Show |
HYDIN | ENSG00000157423.18 | transcript | ENST00000393567.7 | protein_coding | 78/85 | chr16 | TogoVar | ||||||
| HYDIN_chr16_70797084_71235722 | 70834980 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG02922.hp2 NA18522.hp1 |
a0003 | a0003c0008a0003c0014 | a0003c0008t0008a0003c0014t0016 | a0003c0008t0008g0122a0003c0014t0016g0169 | 2 | 174 | 0.0115 | 24 | c.134 others(43): Show |
HYDIN | ENSG00000157423.18 | transcript | ENST00000393567.7 | protein_coding | 78/85 | chr16 | TogoVar | ||||||
| HYDIN_chr16_70797084_71235722 | 70902821 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | NA18944.hp2 NA18962.hp1 NA19004.hp1 |
a0004 | a0004c0006a0004c0033 | a0004c0006t0004a0004c0006t0024a0004c0033t0001 | a0004c0006t0004g0055a0004c0006t0024g0053a0004c0033t0001g0052 | 3 | 174 | 0.0172 | 24 | c.884 others(41): Show |
HYDIN | ENSG00000157423.18 | transcript | ENST00000393567.7 | protein_coding | 52/85 | chr16 | TogoVar | ||||||
| HYKK_chr15_78502577_78541645 | 78514908 | C | CTCTCTCT others(17): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0077 | 1 | 412 | 0.0024 | 24 | c.338 others(37): Show |
HYKK | ENSG00000188266.14 | transcript | ENST00000388988.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| IARS1_chr9_92205207_92298697 | 92252764 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0038 | 1 | 338 | 0.0030 | 24 | c.222 others(41): Show |
IARS1 | ENSG00000196305.19 | transcript | ENST00000443024.7 | protein_coding | 21/33 | chr9 | TogoVar | ||||||
| IBTK_chr6_82164987_82252744 | 82173674 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0269 | 1 | 296 | 0.0034 | 24 | c.372 others(41): Show |
IBTK | ENSG00000005700.15 | transcript | ENST00000306270.12 | protein_coding | 26/28 | chr6 | TogoVar | ||||||
| ICA1L_chr2_202768176_202876766 | 202836800 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG03491.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186a0001c0001t0001g0187 | 2 | 330 | 0.0061 | 24 | c.-7- others(39): Show |
ICA1L | ENSG00000163596.17 | transcript | ENST00000358299.7 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
| ICA1L_chr2_202768176_202876766 | 202847703 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01074.hp2 HG01255.hp2 others(16): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0209a0001c0001t0002g0024a0001c0001t0002g0033others(16): Show | 19 | 330 | 0.0576 | 24 | c.-7- others(41): Show |
ICA1L | ENSG00000163596.17 | transcript | ENST00000358299.7 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
| ICA1_chr7_8108184_8267167 | 8145764 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG00558.hp1 NA18952.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0014a0001c0001t0009g0054 | 2 | 274 | 0.0073 | 24 | c.805 others(41): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | ||||||
| ICA1_chr7_8108184_8267167 | 8153084 | A | ACCTCCTC others(17): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 274 | 0.0037 | 24 | c.804 others(41): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | ||||||
| ICA1_chr7_8108184_8267167 | 8153836 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG01981.hp1 HG02135.hp1 HG02723.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0063a0001c0001t0001g0160a0001c0001t0003g0059others(3): Show | 6 | 274 | 0.0219 | 24 | c.804 others(41): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | ||||||
| ICAM2_chr17_63997595_64025633 | 64014330 | G | GGAAGGAA others(17): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00741.hp2 HG02056.hp2 others(13): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0044a0001c0001t0001g0055a0001c0001t0001g0087others(13): Show | 16 | 392 | 0.0408 | 24 | c.-45 others(41): Show |
ICAM2 | ENSG00000108622.11 | transcript | ENST00000579788.6 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
| ICE1_chr5_5417677_5495220 | 5492980 | A | AGGAAGGA others(17): Show |
downstream_gene_variant | MODIFIER | HG01175.hp2 HG02809.hp2 NA18967.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001a0002c0004t0002 | a0001c0001t0001g0174a0002c0004t0001g0008a0002c0004t0002g0054 | 3 | 364 | 0.0082 | 24 | c.*36 others(35): Show |
ICE1 | ENSG00000164151.12 | transcript | ENST00000296564.9 | protein_coding | 2761 | chr5 | TogoVar | ||||||
| ICE1_chr5_5417677_5495220 | 5493004 | G | GGGAGGGA others(17): Show |
downstream_gene_variant | MODIFIER | HG03471.hp2 | a0015 | a0015c0025 | a0015c0025t0001 | a0015c0025t0001g0117 | 1 | 364 | 0.0028 | 24 | c.*36 others(35): Show |
ICE1 | ENSG00000164151.12 | transcript | ENST00000296564.9 | protein_coding | 2785 | chr5 | TogoVar | ||||||
| ICE1_chr5_5417677_5495220 | 5493004 | G | GGGAGGGA others(17): Show |
downstream_gene_variant | MODIFIER | HG02922.hp2 HG06807.hp2 |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0119a0004c0006t0001g0129 | 2 | 364 | 0.0055 | 24 | c.*36 others(35): Show |
ICE1 | ENSG00000164151.12 | transcript | ENST00000296564.9 | protein_coding | 2785 | chr5 | TogoVar | ||||||
| ICE1_chr5_5417677_5495220 | 5493004 | G | GGGAGGGA others(17): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 HG02145.hp1 |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0121a0004c0006t0001g0122 | 2 | 364 | 0.0055 | 24 | c.*36 others(35): Show |
ICE1 | ENSG00000164151.12 | transcript | ENST00000296564.9 | protein_coding | 2785 | chr5 | TogoVar | ||||||
| ICE1_chr5_5417677_5495220 | 5493004 | G | GGGAGGGA others(17): Show |
downstream_gene_variant | MODIFIER | HG00673.hp2 HG02071.hp1 HG03490.hp1 others(3): Show |
a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0001a0002c0004t0002g0105a0002c0004t0002g0114others(1): Show | 6 | 364 | 0.0165 | 24 | c.*36 others(35): Show |
ICE1 | ENSG00000164151.12 | transcript | ENST00000296564.9 | protein_coding | 2785 | chr5 | TogoVar | ||||||
| ICMT_chr1_6216193_6240964 | 6224610 | T | TTAAAGAA others(17): Show |
3_prime_UTR_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0062 | 1 | 352 | 0.0028 | 24 | c.*46 others(33): Show |
ICMT | ENSG00000116237.16 | transcript | ENST00000343813.10 | protein_coding | 5/5 | 469 | chr1 | TogoVar | |||||
| ICMT_chr1_6216193_6240964 | 6235951 | T | TAGCCCGG others(17): Show |
5_prime_UTR_variant | MODIFIER | HG01081.hp2 HG01361.hp1 HG02145.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0048a0001c0001t0049others(1): Show | a0001c0001t0003g0051a0001c0001t0003g0052a0001c0001t0003g0053others(17): Show | 26 | 352 | 0.0739 | 24 | c.-41 others(31): Show |
ICMT | ENSG00000116237.16 | transcript | ENST00000343813.10 | protein_coding | 1/5 | 41 | chr1 | TogoVar | |||||
| ID2_chr2_8677056_8689461 | 8681460 | T | TTCCTCAC others(17): Show |
upstream_gene_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 394 | 0.0025 | 24 | c.-70 others(33): Show |
ID2 | ENSG00000115738.10 | transcript | ENST00000396290.2 | protein_coding | 595 | chr2 | TogoVar | ||||||
| ID3_chr1_23552926_23564501 | 23557618 | T | TTTTCAAG others(17): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 | a0005 | a0005c0006 | a0005c0006t0002 | a0005c0006t0002g0017 | 1 | 434 | 0.0023 | 24 | c.*82 others(33): Show |
ID3 | ENSG00000117318.9 | transcript | ENST00000374561.6 | protein_coding | 307 | chr1 | TogoVar | ||||||
| IDE_chr10_92446684_92579093 | 92552857 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 314 | 0.0032 | 24 | c.99- others(41): Show |
IDE | ENSG00000119912.18 | transcript | ENST00000265986.11 | protein_coding | 1/24 | chr10 | TogoVar | ||||||
| IDH2_chr15_90078045_90107468 | 90098507 | T | TATGTATG others(17): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0353 | 1 | 440 | 0.0023 | 24 | c.115 others(41): Show |
IDH2 | ENSG00000182054.10 | transcript | ENST00000330062.8 | protein_coding | 1/10 | chr15 | TogoVar | ||||||
| IDH2_chr15_90078045_90107468 | 90098511 | T | TATGTATG others(17): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01074.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221a0001c0001t0001g0370 | 2 | 440 | 0.0046 | 24 | c.115 others(41): Show |
IDH2 | ENSG00000182054.10 | transcript | ENST00000330062.8 | protein_coding | 1/10 | chr15 | TogoVar | ||||||
| IDH2_chr15_90078045_90107468 | 90098531 | C | CATGCATG others(17): Show |
intron_variant | MODIFIER | NA18993.hp1 NA18999.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0303a0001c0001t0001g0304 | 2 | 440 | 0.0046 | 24 | c.115 others(41): Show |
IDH2 | ENSG00000182054.10 | transcript | ENST00000330062.8 | protein_coding | 1/10 | chr15 | TogoVar | ||||||
| IDH2_chr15_90078045_90107468 | 90098531 | C | CATGTATG others(17): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0252 | 1 | 440 | 0.0023 | 24 | c.115 others(41): Show |
IDH2 | ENSG00000182054.10 | transcript | ENST00000330062.8 | protein_coding | 1/10 | chr15 | TogoVar | ||||||
| IDH2_chr15_90078045_90107468 | 90098531 | C | CATGTATG others(17): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(65): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0269others(60): Show | 68 | 440 | 0.1546 | 24 | c.115 others(41): Show |
IDH2 | ENSG00000182054.10 | transcript | ENST00000330062.8 | protein_coding | 1/10 | chr15 | TogoVar | ||||||
| IDH2_chr15_90078045_90107468 | 90098531 | C | CATGTATG others(17): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0284 | 1 | 440 | 0.0023 | 24 | c.115 others(41): Show |
IDH2 | ENSG00000182054.10 | transcript | ENST00000330062.8 | protein_coding | 1/10 | chr15 | TogoVar | ||||||
| IDH3A_chr15_78144362_78176945 | 78158448 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02280.hp2 HG02559.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0011a0001c0002t0002g0106 | 5 | 386 | 0.0130 | 24 | c.174 others(39): Show |
IDH3A | ENSG00000166411.14 | transcript | ENST00000299518.7 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| IDH3A_chr15_78144362_78176945 | 78158463 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0109 | 1 | 386 | 0.0026 | 24 | c.174 others(39): Show |
IDH3A | ENSG00000166411.14 | transcript | ENST00000299518.7 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| IDH3A_chr15_78144362_78176945 | 78158463 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0104 | 1 | 386 | 0.0026 | 24 | c.174 others(39): Show |
IDH3A | ENSG00000166411.14 | transcript | ENST00000299518.7 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| IDO1_chr8_39908891_39933790 | 39912564 | A | ACTTCAAG others(17): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(236): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0007a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0007others(129): Show | 239 | 422 | 0.5664 | 24 | c.-13 others(35): Show |
IDO1 | ENSG00000131203.13 | transcript | ENST00000518237.6 | protein_coding | 1326 | chr8 | TogoVar | ||||||
| IDO2_chr8_39929651_40021392 | 39995197 | T | TCTTCTCC others(17): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02015.hp2 NA18961.hp2 others(6): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0001g0146a0001c0001t0001g0153a0001c0001t0001g0323others(6): Show | 9 | 360 | 0.0250 | 24 | c.667 others(41): Show |
IDO2 | ENSG00000188676.15 | transcript | ENST00000502986.4 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| IDO2_chr8_39929651_40021392 | 39995251 | C | CCTTCTCC others(17): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01884.hp1 HG03486.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0004 | a0002c0002t0001g0097a0002c0002t0001g0305a0002c0002t0004g0100 | 3 | 360 | 0.0083 | 24 | c.667 others(41): Show |
IDO2 | ENSG00000188676.15 | transcript | ENST00000502986.4 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| IDO2_chr8_39929651_40021392 | 39995268 | T | TTCTTCCT others(17): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008 | a0001c0001t0004g0135a0001c0001t0008g0081 | 2 | 360 | 0.0056 | 24 | c.667 others(41): Show |
IDO2 | ENSG00000188676.15 | transcript | ENST00000502986.4 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| IDO2_chr8_39929651_40021392 | 39995268 | T | TTCTTCTT others(17): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0091 | 1 | 360 | 0.0028 | 24 | c.667 others(41): Show |
IDO2 | ENSG00000188676.15 | transcript | ENST00000502986.4 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| IDO2_chr8_39929651_40021392 | 39995274 | T | TTCTTCTT others(17): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01081.hp1 HG01433.hp2 others(1): Show |
a0002a0005 | a0002c0002a0005c0005 | a0002c0002t0001a0005c0005t0003 | a0002c0002t0001g0002a0002c0002t0001g0119a0005c0005t0003g0151 | 4 | 360 | 0.0111 | 24 | c.667 others(41): Show |
IDO2 | ENSG00000188676.15 | transcript | ENST00000502986.4 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| IER3_chr6_30738199_30749547 | 30746541 | A | AATATATA others(17): Show |
upstream_gene_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 449 | 0.0022 | 24 | c.-20 others(35): Show |
IER3 | ENSG00000137331.12 | transcript | ENST00000259874.6 | protein_coding | 1995 | chr6 | TogoVar |