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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALX4_chr11_44255440_44315139 | 44294828 | C | CTATTTAT others(5): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0027 | a0001c0002t0027g0191 | 1 | 388 | 0.0026 | 12 | c.466 others(31): Show |
ALX4 | ENSG00000052850.8 | transcript | ENST00000652299.1 | protein_coding | 1/3 | chr11 | TogoVar | ||||||
ALYREF_chr17_81882835_81896586 | 81890723 | T | TTGGACAC others(5): Show |
conservative_inframe_insertion | MODERATE | HG02895.hp2 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0032 | 1 | 322 | 0.0031 | 12 | c.344 others(19): Show |
p.Ser others(25): Show |
ALYREF | ENSG00000183684.8 | transcript | ENST00000505490.3 | protein_coding | 2/6 | 361/1097 | 355/795 | 119/264 | chr17 | TogoVar | ||
AMACR_chr5_33981165_34013050 | 33991726 | T | TTTATTAT others(5): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00621.hp2 others(46): Show |
a0001a0003a0004others(4): Show | a0001c0001a0003c0003a0004c0004others(4): Show | a0001c0001t0013a0001c0001t0021a0001c0001t0038others(14): Show | a0001c0001t0013g0175a0001c0001t0021g0110a0001c0001t0038g0173others(22): Show | 49 | 438 | 0.1119 | 12 | c.740 others(29): Show |
AMACR | ENSG00000242110.9 | transcript | ENST00000335606.11 | protein_coding | 4/4 | chr5 | TogoVar | ||||||
AMBN_chr4_70587256_70612288 | 70588670 | A | ACTCCGTC others(5): Show |
upstream_gene_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 480 | 0.0021 | 12 | c.-36 others(23): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 3585 | chr4 | TogoVar | ||||||
AMBN_chr4_70587256_70612288 | 70588675 | G | GTCTCTCT others(5): Show |
upstream_gene_variant | MODIFIER | HG00609.hp1 HG00673.hp1 NA18954.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0002t0002 | a0001c0001t0009g0010a0001c0002t0002g0220a0001c0002t0002g0225 | 3 | 480 | 0.0063 | 12 | c.-36 others(23): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 3580 | chr4 | TogoVar | ||||||
AMBN_chr4_70587256_70612288 | 70588707 | C | CTCTATAT others(5): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 HG01496.hp1 HG03710.hp2 others(3): Show |
a0001a0002a0009 | a0001c0001a0001c0004a0002c0003others(1): Show | a0001c0001t0001a0001c0004t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0005a0001c0001t0001g0163a0001c0004t0001g0008others(2): Show | 6 | 480 | 0.0125 | 12 | c.-36 others(23): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 3548 | chr4 | TogoVar | ||||||
AMBN_chr4_70587256_70612288 | 70588707 | C | CTCTCTAT others(5): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00621.hp1 HG00621.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0008a0001c0002t0002others(4): Show | a0001c0001t0001g0005a0001c0001t0001g0010a0001c0001t0001g0031others(10): Show | 18 | 480 | 0.0375 | 12 | c.-36 others(23): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 3548 | chr4 | TogoVar | ||||||
AMBN_chr4_70587256_70612288 | 70588707 | C | CTCTCTCT others(5): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG00735.hp2 HG01358.hp2 others(24): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(4): Show | a0001c0001t0001g0005a0001c0001t0001g0011a0001c0001t0001g0034others(18): Show | 27 | 480 | 0.0563 | 12 | c.-36 others(23): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 3548 | chr4 | TogoVar | ||||||
AMBN_chr4_70587256_70612288 | 70588707 | C | CTCTCTCT others(5): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00642.hp2 others(17): Show |
a0001a0002a0005 | a0001c0001a0001c0004a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0004t0001others(4): Show | a0001c0001t0001g0005a0001c0001t0001g0010a0001c0001t0001g0014others(12): Show | 20 | 480 | 0.0417 | 12 | c.-36 others(23): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 3548 | chr4 | TogoVar | ||||||
AMBN_chr4_70587256_70612288 | 70588707 | C | CTCTCTCT others(5): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG02015.hp2 HG03490.hp2 others(10): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0002c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0002c0003t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0021others(8): Show | 13 | 480 | 0.0271 | 12 | c.-36 others(23): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 3548 | chr4 | TogoVar | ||||||
AMBN_chr4_70587256_70612288 | 70588722 | T | TATATATA others(5): Show |
upstream_gene_variant | MODIFIER | HG01081.hp2 HG01167.hp1 HG01169.hp2 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0002 | a0001c0001t0001g0022a0002c0005t0002g0121 | 3 | 480 | 0.0063 | 12 | c.-36 others(23): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 3533 | chr4 | TogoVar | ||||||
AMBN_chr4_70587256_70612288 | 70590506 | G | GCACACAC others(5): Show |
upstream_gene_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0008 | 1 | 480 | 0.0021 | 12 | c.-18 others(23): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 1749 | chr4 | TogoVar | ||||||
AMBN_chr4_70587256_70612288 | 70590956 | C | CAAAAAAA others(5): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00558.hp1 others(140): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0009others(78): Show | 143 | 480 | 0.2979 | 12 | c.-14 others(23): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 1299 | chr4 | TogoVar | ||||||
AMBN_chr4_70587256_70612288 | 70611484 | C | CAAAAAAA others(5): Show |
downstream_gene_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0111 | 1 | 480 | 0.0021 | 12 | c.*47 others(23): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 4197 | chr4 | TogoVar | ||||||
AMBP_chr9_114055127_114083300 | 114066376 | C | CGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01099.hp2 HG01167.hp2 others(34): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0002t0001a0001c0009t0001 | a0001c0001t0001g0024a0001c0001t0001g0025a0001c0001t0001g0050others(26): Show | 37 | 454 | 0.0815 | 12 | c.603 others(29): Show |
AMBP | ENSG00000106927.12 | transcript | ENST00000265132.8 | protein_coding | 6/9 | chr9 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46400473 | G | GTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0151 | 1 | 160 | 0.0063 | 12 | c.340 others(31): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 17/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46425310 | T | TTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01081.hp2 HG02451.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0004c0006t0001 | a0001c0001t0001g0064a0001c0001t0001g0082a0001c0001t0001g0083others(1): Show | 4 | 160 | 0.0250 | 12 | c.297 others(31): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 14/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46527477 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG03041.hp1 NA18942.hp2 NA18964.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081a0001c0001t0001g0086a0001c0001t0001g0139others(1): Show | 4 | 160 | 0.0250 | 12 | c.207 others(33): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 7/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46552368 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0021 | 1 | 160 | 0.0063 | 12 | c.-12 others(31): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46583677 | A | AAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0004 | 1 | 160 | 0.0063 | 12 | c.-12 others(33): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46585691 | A | AATATATA others(5): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 160 | 0.0063 | 12 | c.-12 others(31): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46585693 | A | AATATATA others(5): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 160 | 0.0063 | 12 | c.-12 others(31): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | ||||||
AMDHD1_chr12_95938331_95973720 | 95944327 | T | TTTTATTT others(5): Show |
intron_variant | MODIFIER | HG02922.hp2 NA19004.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0117a0001c0001t0007g0116 | 2 | 404 | 0.0050 | 12 | c.137 others(27): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AMDHD1_chr12_95938331_95973720 | 95946061 | C | CTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0003 | a0002c0003t0015 | a0002c0003t0015g0089 | 1 | 404 | 0.0025 | 12 | c.137 others(29): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AMDHD1_chr12_95938331_95973720 | 95946576 | G | GCTCCCCC others(5): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02698.hp1 HG02818.hp1 others(2): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0011a0002c0003t0001g0084a0002c0003t0001g0096 | 5 | 404 | 0.0124 | 12 | c.137 others(29): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AMDHD1_chr12_95938331_95973720 | 95964032 | T | TAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG01081.hp2 NA19030.hp2 |
a0002 | a0002c0003 | a0002c0003t0009 | a0002c0003t0009g0091a0002c0003t0009g0092 | 2 | 404 | 0.0050 | 12 | c.938 others(29): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AMDHD1_chr12_95938331_95973720 | 95964928 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00621.hp2 HG00735.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0003a0001c0002t0008others(2): Show | a0001c0001t0001g0141a0001c0001t0001g0192a0001c0001t0001g0200others(9): Show | 14 | 404 | 0.0347 | 12 | c.939 others(27): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AMDHD2_chr16_2515371_2536417 | 2517713 | T | TTGTGTGT others(5): Show |
upstream_gene_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 318 | 0.0031 | 12 | c.-27 others(23): Show |
AMDHD2 | ENSG00000162066.16 | transcript | ENST00000293971.11 | protein_coding | 2657 | chr16 | TogoVar | ||||||
AMDHD2_chr16_2515371_2536417 | 2533275 | C | CTTTTTTT others(5): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00673.hp1 others(70): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(27): Show | 73 | 318 | 0.2296 | 12 | c.*37 others(23): Show |
AMDHD2 | ENSG00000162066.16 | transcript | ENST00000293971.11 | protein_coding | 1859 | chr16 | TogoVar | ||||||
AMDHD2_chr16_2515371_2536417 | 2533430 | A | ATTTTTTT others(5): Show |
downstream_gene_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 318 | 0.0031 | 12 | c.*38 others(23): Show |
AMDHD2 | ENSG00000162066.16 | transcript | ENST00000293971.11 | protein_coding | 2014 | chr16 | TogoVar | ||||||
AMER1_chrX_64180117_64210708 | 64189514 | G | GTGTATAT others(5): Show |
3_prime_UTR_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0086 | a0001c0001t0086g0169 | 1 | 243 | 0.0041 | 12 | c.*36 others(21): Show |
AMER1 | ENSG00000184675.11 | transcript | ENST00000374869.8 | protein_coding | 2/2 | 364 | chrX | TogoVar | |||||
AMER1_chrX_64180117_64210708 | 64189514 | G | GTGTGTGT others(5): Show |
3_prime_UTR_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0003 | a0001c0003t0077 | a0001c0003t0077g0153 | 1 | 243 | 0.0041 | 12 | c.*36 others(21): Show |
AMER1 | ENSG00000184675.11 | transcript | ENST00000374869.8 | protein_coding | 2/2 | 364 | chrX | TogoVar | |||||
AMER1_chrX_64180117_64210708 | 64189514 | G | GTGTGTGT others(5): Show |
3_prime_UTR_variant | MODIFIER | HG03225.hp1 NA19240.hp1 |
a0001 | a0001c0003 | a0001c0003t0034 | a0001c0003t0034g0032 | 2 | 243 | 0.0082 | 12 | c.*36 others(21): Show |
AMER1 | ENSG00000184675.11 | transcript | ENST00000374869.8 | protein_coding | 2/2 | 364 | chrX | TogoVar | |||||
AMER2_chr13_25156679_25177288 | 25174477 | G | GTCATCAT others(5): Show |
upstream_gene_variant | MODIFIER | HG01099.hp2 HG01106.hp1 HG01167.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0000a0001c0001t0003g0000a0001c0001t0004g0000others(4): Show | 14 | 416 | 0.0337 | 12 | c.-28 others(23): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2190 | chr13 | TogoVar | ||||||
AMER2_chr13_25156679_25177288 | 25174477 | G | GTCGTCAT others(5): Show |
upstream_gene_variant | MODIFIER | NA18951.hp1 | a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0000 | 1 | 416 | 0.0024 | 12 | c.-28 others(23): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2190 | chr13 | TogoVar | ||||||
AMER2_chr13_25156679_25177288 | 25174782 | T | TTTCCTTC others(5): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 HG01071.hp1 HG01168.hp2 others(21): Show |
a0001a0002a0004 | a0001c0001a0001c0013a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0000a0001c0001t0003g0000a0001c0001t0004g0000others(10): Show | 24 | 416 | 0.0577 | 12 | c.-31 others(23): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2495 | chr13 | TogoVar | ||||||
AMER2_chr13_25156679_25177288 | 25174821 | C | CCTTCCTT others(5): Show |
upstream_gene_variant | MODIFIER | HG03579.hp2 HG06807.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0034a0001c0006t0078 | a0001c0001t0034g0000a0001c0006t0078g0000 | 2 | 416 | 0.0048 | 12 | c.-32 others(23): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2534 | chr13 | TogoVar | ||||||
AMER2_chr13_25156679_25177288 | 25174821 | C | CCTTTCTT others(5): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0000 | 1 | 416 | 0.0024 | 12 | c.-32 others(23): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2534 | chr13 | TogoVar | ||||||
AMER2_chr13_25156679_25177288 | 25174825 | C | CCTTCCTT others(5): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp2 NA18954.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0088 | a0001c0001t0001g0000a0001c0001t0004g0000a0001c0001t0088g0000 | 5 | 416 | 0.0120 | 12 | c.-32 others(23): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2538 | chr13 | TogoVar | ||||||
AMER2_chr13_25156679_25177288 | 25174825 | C | CCTTCCTT others(5): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG01168.hp1 HG02965.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0000a0001c0001t0003g0000a0001c0001t0004g0000others(3): Show | 10 | 416 | 0.0240 | 12 | c.-32 others(23): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2538 | chr13 | TogoVar | ||||||
AMER2_chr13_25156679_25177288 | 25174825 | C | CCTTTCTT others(5): Show |
upstream_gene_variant | MODIFIER | HG01123.hp2 HG02630.hp1 HG03516.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0033a0001c0001t0064others(1): Show | a0001c0001t0006g0000a0001c0001t0033g0000a0001c0001t0064g0000others(1): Show | 5 | 416 | 0.0120 | 12 | c.-32 others(23): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2538 | chr13 | TogoVar | ||||||
AMER3_chr2_130750540_130773134 | 130771107 | G | GAAACTGA others(5): Show |
downstream_gene_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 360 | 0.0028 | 12 | c.*64 others(23): Show |
AMER3 | ENSG00000178171.12 | transcript | ENST00000321420.5 | protein_coding | 2974 | chr2 | TogoVar | ||||||
AMFR_chr16_56356452_56430545 | 56359469 | T | TAAAAAAA others(5): Show |
downstream_gene_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 356 | 0.0028 | 12 | c.*34 others(23): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 1982 | chr16 | TogoVar | ||||||
AMFR_chr16_56356452_56430545 | 56406123 | A | AAGAGGGA others(5): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0009 | a0001c0009t0035 | a0001c0009t0035g0135 | 1 | 356 | 0.0028 | 12 | c.667 others(27): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 4/13 | chr16 | TogoVar | ||||||
AMFR_chr16_56356452_56430545 | 56406127 | G | GGGAGAGA others(5): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(223): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0157a0001c0001t0001g0159a0001c0001t0001g0160others(223): Show | 226 | 356 | 0.6348 | 12 | c.667 others(27): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 4/13 | chr16 | TogoVar | ||||||
AMFR_chr16_56356452_56430545 | 56406153 | G | GAGAGAGG others(5): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0185 | 1 | 356 | 0.0028 | 12 | c.667 others(27): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 4/13 | chr16 | TogoVar | ||||||
AMFR_chr16_56356452_56430545 | 56406552 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG02818.hp2 HG03209.hp2 |
a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0322a0001c0002t0012g0325 | 2 | 356 | 0.0056 | 12 | c.667 others(29): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 4/13 | chr16 | TogoVar | ||||||
AMFR_chr16_56356452_56430545 | 56425420 | T | TCGCTGCC others(5): Show |
5_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(176): Show |
a0001a0004 | a0001c0001a0001c0007a0004c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0001g0157a0001c0001t0001g0159a0001c0001t0001g0160others(176): Show | 179 | 356 | 0.5028 | 12 | c.-10 others(20): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 1/14 | 94 | chr16 | TogoVar | |||||
AMFR_chr16_56356452_56430545 | 56425436 | T | TGCCGCTG others(5): Show |
5_prime_UTR_variant | MODIFIER | NA18941.hp2 NA18962.hp2 NA19065.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0028a0001c0001t0052a0001c0001t0053 | a0001c0001t0028g0345a0001c0001t0028g0346a0001c0001t0052g0344others(1): Show | 4 | 356 | 0.0112 | 12 | c.-11 others(21): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 1/14 | 110 | chr16 | TogoVar | |||||
AMIGO1_chr1_109499178_109514727 | 109501054 | T | TACACACA others(5): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00609.hp1 others(108): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001a0001c0001t0002g0002a0001c0001t0002g0008others(9): Show | 111 | 400 | 0.2775 | 12 | c.*63 others(23): Show |
AMIGO1 | ENSG00000181754.7 | transcript | ENST00000369864.5 | protein_coding | 3123 | chr1 | TogoVar |