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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
WAPL_chr10_86430256_86526792 | 86504415 | G | GCCTGTAA others(3517): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0137 | 1 | 410 | 0.0024 | 3524 | c.500 others(3541): Show |
WAPL | ENSG00000062650.20 | transcript | ENST00000298767.10 | protein_coding | 2/18 | chr10 | TogoVar | ||||||
GNPDA1_chr5_141995671_142018027 | 142000088 | A | ATGCTTGG others(3518): Show |
downstream_gene_variant | MODIFIER | HG01496.hp1 HG03139.hp2 HG03516.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0104a0001c0002t0002g0018 | 4 | 423 | 0.0095 | 3525 | c.*19 others(3536): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 582 | chr5 | TogoVar | ||||||
UTRN_chr6_144280335_144858034 | 144694251 | T | TGGATTAG others(3518): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0002 | a0002c0005 | a0002c0005t0004 | a0002c0005t0004g0019 | 1 | 128 | 0.0078 | 3525 | c.765 others(3544): Show |
UTRN | ENSG00000152818.20 | transcript | ENST00000367545.8 | protein_coding | 52/74 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
EVC2_chr4_5557439_5713559 | 5706339 | T | TAGATAGA others(3519): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 292 | 0.0034 | 3526 | c.228 others(3543): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
FAM118A_chr22_45304934_45346955 | 45328345 | G | GGCAGAAC others(3519): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0080 | 1 | 416 | 0.0024 | 3526 | c.522 others(3541): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
GNPDA1_chr5_141995671_142018027 | 142000088 | A | ATGCTTGG others(3519): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0018 | 1 | 423 | 0.0024 | 3526 | c.*19 others(3537): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 582 | chr5 | TogoVar | ||||||
GNPDA1_chr5_141995671_142018027 | 142000088 | A | ATGCTTGG others(3519): Show |
downstream_gene_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0135 | 1 | 423 | 0.0024 | 3526 | c.*19 others(3537): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 582 | chr5 | TogoVar | ||||||
SLC22A11_chr11_64550941_64577875 | 64553153 | G | GGTGGTGA others(3519): Show |
upstream_gene_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 383 | 0.0026 | 3526 | c.-28 others(3537): Show |
SLC22A11 | ENSG00000168065.16 | transcript | ENST00000301891.9 | protein_coding | 2787 | chr11 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200717 | T | TGGAGGTG others(3520): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0260 | 1 | 298 | 0.0034 | 3527 | c.955 others(3544): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
GNPDA1_chr5_141995671_142018027 | 142000088 | A | ATGCTTGG others(3520): Show |
downstream_gene_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0003 | a0001c0003t0016 | a0001c0003t0016g0059 | 1 | 423 | 0.0024 | 3527 | c.*19 others(3538): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 582 | chr5 | TogoVar | ||||||
GNPDA1_chr5_141995671_142018027 | 142000088 | A | ATGCTTGG others(3520): Show |
downstream_gene_variant | MODIFIER | HG02970.hp2 HG03579.hp1 NA20300.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0112a0001c0001t0002g0118a0001c0002t0002g0062 | 3 | 423 | 0.0071 | 3527 | c.*19 others(3538): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 582 | chr5 | TogoVar | ||||||
GNPDA1_chr5_141995671_142018027 | 142000088 | A | ATGCTTGG others(3520): Show |
downstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0119 | 1 | 423 | 0.0024 | 3527 | c.*19 others(3538): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 582 | chr5 | TogoVar | ||||||
MORN1_chr1_2316253_2396554 | 2325140 | C | CTCCCTCC others(3520): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 | 1 | 80 | 0.0125 | 3527 | c.125 others(3544): Show |
MORN1 | ENSG00000116151.14 | transcript | ENST00000378531.8 | protein_coding | 12/13 | chr1 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3977201 | C | CCACACAG others(3520): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0010 | a0010c0019 | a0010c0019t0074 | a0010c0019t0074g0009 | 1 | 116 | 0.0086 | 3527 | c.199 others(3546): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | chr7 | TogoVar | ||||||
UTRN_chr6_144280335_144858034 | 144694251 | T | TGGATTAG others(3520): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0002 | a0002c0005 | a0002c0005t0004 | a0002c0005t0004g0020 | 1 | 128 | 0.0078 | 3527 | c.765 others(3546): Show |
UTRN | ENSG00000152818.20 | transcript | ENST00000367545.8 | protein_coding | 52/74 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ADGRA1_chr10_133082924_133136675 | 133111783 | C | CCCACCAG others(3521): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0004 | a0001c0004t0047 | a0001c0004t0047g0304 | 1 | 368 | 0.0027 | 3528 | c.401 others(3545): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
GNPDA1_chr5_141995671_142018027 | 142000088 | A | ATGCTTGG others(3521): Show |
downstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0076 | 1 | 423 | 0.0024 | 3528 | c.*19 others(3539): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 582 | chr5 | TogoVar | ||||||
GNPDA1_chr5_141995671_142018027 | 142000088 | A | ATGCTTGG others(3521): Show |
downstream_gene_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0095 | 1 | 423 | 0.0024 | 3528 | c.*19 others(3539): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 582 | chr5 | TogoVar | ||||||
GNPDA1_chr5_141995671_142018027 | 142000088 | A | ATGCTTGG others(3521): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0039 | 1 | 423 | 0.0024 | 3528 | c.*19 others(3539): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 582 | chr5 | TogoVar | ||||||
RIMBP2_chr12_130391133_130721299 | 130646039 | T | TTCCCTCA others(3521): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0011 | a0011c0050 | a0011c0050t0001 | a0011c0050t0001g0104 | 1 | 180 | 0.0056 | 3528 | c.-35 others(3549): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432147 | C | CAGGGTGG others(3521): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0289 | 1 | 376 | 0.0027 | 3528 | c.101 others(3545): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SLC22A2_chr6_160211755_160263821 | 160219096 | C | CAGCAACA others(3521): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0152 | 1 | 310 | 0.0032 | 3528 | c.160 others(3547): Show |
SLC22A2 | ENSG00000112499.13 | transcript | ENST00000366953.8 | protein_coding | 10/10 | chr6 | TogoVar | ||||||
GNPDA1_chr5_141995671_142018027 | 142000088 | A | ATGCTTGG others(3522): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0156 | 1 | 423 | 0.0024 | 3529 | c.*19 others(3540): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 582 | chr5 | TogoVar | ||||||
GNPDA1_chr5_141995671_142018027 | 142000088 | A | ATGCTTGG others(3522): Show |
downstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0039 | 1 | 423 | 0.0024 | 3529 | c.*19 others(3540): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 582 | chr5 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(3522): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0016 | a0016c0019 | a0016c0019t0002 | a0016c0019t0002g0178 | 1 | 282 | 0.0036 | 3529 | c.299 others(3544): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | ||||||
SLC38A10_chr17_81239811_81300307 | 81249468 | G | GGAGGGAG others(3522): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0074 | 1 | 214 | 0.0047 | 3529 | c.206 others(3548): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 323550 | G | GTGTGTGT others(3523): Show |
upstream_gene_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0036 | a0002c0036t0001 | a0002c0036t0001g0071 | 1 | 155 | 0.0065 | 3530 | c.-47 others(3541): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 4755 | chrX | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322909 | T | TAATATAT others(3523): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 323 | 0.0031 | 3530 | c.-21 others(3541): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | ||||||
WAPL_chr10_86430256_86526792 | 86504415 | G | GCCTGTAA others(3523): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01168.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0104a0001c0002t0001g0128 | 2 | 410 | 0.0049 | 3530 | c.500 others(3547): Show |
WAPL | ENSG00000062650.20 | transcript | ENST00000298767.10 | protein_coding | 2/18 | chr10 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20092293 | G | GGAAATCA others(3524): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0003 | a0003c0004 | a0003c0004t0011 | a0003c0004t0011g0092 | 1 | 250 | 0.0040 | 3531 | c.-21 others(3548): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DOCK1_chr10_126900428_127457516 | 126947414 | A | ATGGTGGT others(3526): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0122 | 1 | 136 | 0.0074 | 3533 | c.47- others(3550): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
FAM120B_chr6_170301758_170412067 | 170399756 | G | GAAGGTAG others(3526): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 | 1 | 289 | 0.0035 | 3533 | c.269 others(3552): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GALNT9_chr12_132191372_132334589 | 132242612 | C | CTTCCAGG others(3526): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0021 | 1 | 183 | 0.0055 | 3533 | c.107 others(3552): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132242695 | A | ACACCCCC others(3526): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0063 | 1 | 183 | 0.0055 | 3533 | c.107 others(3552): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322912 | T | TATATATA others(3526): Show |
upstream_gene_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 323 | 0.0031 | 3533 | c.-21 others(3544): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2057 | chr21 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113418980 | T | TTCCCTCC others(3527): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0004 | a0004c0005 | a0004c0005t0024 | a0004c0005t0024g0062 | 1 | 262 | 0.0038 | 3534 | c.106 others(3553): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706339 | T | TAGATAGA others(3527): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0009 | a0009c0046 | a0009c0046t0001 | a0009c0046t0001g0142 | 1 | 292 | 0.0034 | 3534 | c.228 others(3551): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706339 | T | TAGATAGA others(3527): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 | a0003 | a0003c0001 | a0003c0001t0002 | a0003c0001t0002g0092 | 1 | 369 | 0.0027 | 3534 | c.-50 others(3545): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4861 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706339 | T | TAGATAGA others(3527): Show |
upstream_gene_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0002a0036 | a0002c0005a0036c0053 | a0002c0005t0001a0036c0053t0001 | a0002c0005t0001g0322a0036c0053t0001g0321 | 2 | 369 | 0.0054 | 3534 | c.-50 others(3545): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4861 | chr4 | TogoVar | ||||||
SLC22A2_chr6_160211755_160263821 | 160219096 | C | CAGCAACA others(3527): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0158 | 1 | 310 | 0.0032 | 3534 | c.160 others(3553): Show |
SLC22A2 | ENSG00000112499.13 | transcript | ENST00000366953.8 | protein_coding | 10/10 | chr6 | TogoVar | ||||||
SLC22A2_chr6_160211755_160263821 | 160219096 | C | CAGCAACA others(3527): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02027.hp1 HG02132.hp1 others(9): Show |
a0001a0002 | a0001c0003a0002c0004a0002c0007 | a0001c0003t0002a0002c0004t0002a0002c0007t0002 | a0001c0003t0002g0105a0002c0004t0002g0006a0002c0004t0002g0159others(3): Show | 12 | 310 | 0.0387 | 3534 | c.160 others(3553): Show |
SLC22A2 | ENSG00000112499.13 | transcript | ENST00000366953.8 | protein_coding | 10/10 | chr6 | TogoVar | ||||||
SLC22A2_chr6_160211755_160263821 | 160219096 | C | CAGCAACA others(3527): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0157 | 1 | 310 | 0.0032 | 3534 | c.160 others(3553): Show |
SLC22A2 | ENSG00000112499.13 | transcript | ENST00000366953.8 | protein_coding | 10/10 | chr6 | TogoVar | ||||||
SLC22A2_chr6_160211755_160263821 | 160219096 | C | CAGCAACA others(3527): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02258.hp2 HG03098.hp2 others(1): Show |
a0001 | a0001c0003a0001c0005 | a0001c0003t0002a0001c0005t0002 | a0001c0003t0002g0027a0001c0003t0002g0141a0001c0005t0002g0187 | 4 | 310 | 0.0129 | 3534 | c.160 others(3553): Show |
SLC22A2 | ENSG00000112499.13 | transcript | ENST00000366953.8 | protein_coding | 10/10 | chr6 | TogoVar | ||||||
TPTE2_chr13_19417877_19566532 | 19432263 | A | AAAAGAAA others(3528): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0046 | 1 | 222 | 0.0045 | 3535 | c.122 others(3552): Show |
TPTE2 | ENSG00000132958.19 | transcript | ENST00000697147.1 | protein_coding | 19/22 | chr13 | TogoVar | ||||||
FAM120B_chr6_170301758_170412067 | 170399756 | G | GAAGGTAG others(3529): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 289 | 0.0035 | 3536 | c.269 others(3555): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
LRRC27_chr10_132327193_132386508 | 132364368 | T | TACACCCA others(3529): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 290 | 0.0035 | 3536 | c.129 others(3555): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SPAAR_chr9_35904490_35916686 | 35913964 | T | TAGTGTGT others(3529): Show |
downstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 1 | 420 | 0.0024 | 3536 | c.*32 others(3547): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2279 | chr9 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322912 | T | TATATATA others(3530): Show |
upstream_gene_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 323 | 0.0031 | 3537 | c.-21 others(3548): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2057 | chr21 | TogoVar | ||||||
NXN_chr17_794310_984776 | 952238 | T | TGGGGGGG others(3530): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0010 | a0001c0010t0006 | a0001c0010t0006g0159 | 1 | 242 | 0.0041 | 3537 | c.360 others(3556): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
SLC22A2_chr6_160211755_160263821 | 160219096 | C | CAGCAACA others(3530): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01934.hp2 NA19030.hp2 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0002 | a0001c0002t0002g0168a0001c0003t0002g0034a0001c0003t0002g0156 | 4 | 310 | 0.0129 | 3537 | c.160 others(3556): Show |
SLC22A2 | ENSG00000112499.13 | transcript | ENST00000366953.8 | protein_coding | 10/10 | chr6 | TogoVar |