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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPEF2_chr5_35612863_35819611 | 35714092 | A | ATATAGTA others(1637): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02976.hp1 |
a0014 | a0014c0019 | a0014c0019t0001 | a0014c0019t0001g0015 a0014c0019t0001g0105 |
2 | 268 | 0.0075 | 1644 | c.291 others(1663): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 20/36 | chr5 | TogoVar | |||||||
THEG_chr19_356747_381026 | 376879 | C | CCCCCACC others(1637): Show |
upstream_gene_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0130 | 1 | 370 | 0.0027 | 1644 | c.-91 others(1653): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 854 | chr19 | TogoVar | |||||||
USP12_chr13_27061156_27176811 | 27063931 | A | AGGGAGGA others(1637): Show |
downstream_gene_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 167 | 0.0060 | 1644 | c.*53 others(1655): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2224 | chr13 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83022555 | C | CACTGTCC others(1638): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0259 | 1 | 266 | 0.0038 | 1645 | c.298 others(1662): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
CAMTA1_chr1_6780454_7774706 | 7520219 | C | CCTCCTCC others(1638): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0014 | 1 | 58 | 0.0172 | 1645 | c.510 others(1664): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647402 | C | CCCTCCTC others(1638): Show |
downstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 276 | 0.0036 | 1645 | c.*52 others(1656): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2058 | chr15 | TogoVar | |||||||
DNA2_chr10_68409064_68476973 | 68475190 | T | TTTTTTGT others(1638): Show |
upstream_gene_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0001 | 1 | 326 | 0.0031 | 1645 | c.-33 others(1656): Show |
DNA2 | ENSG00000138346.16 | transcript | ENST00000358410.8 | protein_coding | 3218 | chr10 | TogoVar | |||||||
DNA2_chr10_68409064_68476973 | 68475190 | T | TTTTTTGT others(1638): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG01978.hp1 others(10): Show |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0009 | a0001c0003t0003g0001 a0001c0003t0003g0002 a0001c0003t0003g0055 others(10): Show |
13 | 326 | 0.0399 | 1645 | c.-33 others(1656): Show |
DNA2 | ENSG00000138346.16 | transcript | ENST00000358410.8 | protein_coding | 3218 | chr10 | TogoVar | |||||||
DOCK1_chr10_126900428_127457516 | 126948175 | T | TTGGTGAT others(1638): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0085 | 1 | 136 | 0.0074 | 1645 | c.47- others(1662): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
FHOD3_chr18_36292713_36785220 | 36463416 | T | TAATATAT others(1638): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 168 | 0.0060 | 1645 | c.338 others(1664): Show |
FHOD3 | ENSG00000134775.16 | transcript | ENST00000590592.6 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 494651 | T | TGGGGGAT others(1638): Show |
downstream_gene_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0109 | a0001c0001t0109g0210 | 1 | 302 | 0.0033 | 1645 | c.*39 others(1656): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2606 | chr7 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1142161 | A | ACTCAATG others(1638): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00597.hp1 others(65): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(14): Show | a0001c0001t0001a0001c0001t0008a0001c0004t0001others(19): Show | a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0025 others(65): Show |
68 | 203 | 0.3350 | 1645 | c.279 others(1662): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 4/31 | chr19 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1142161 | A | ACTCAATG others(1638): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02922.hp2 HG02965.hp2 others(3): Show |
a0001 | a0001c0004a0001c0007 | a0001c0004t0001a0001c0007t0001 | a0001c0004t0001g0046 a0001c0004t0001g0092 a0001c0004t0001g0159 others(3): Show |
6 | 203 | 0.0296 | 1645 | c.279 others(1662): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 4/31 | chr19 | TogoVar | |||||||
SLC25A16_chr10_68472998_68532523 | 68475190 | T | TTTTTTGT others(1638): Show |
downstream_gene_variant | MODIFIER | NA19007.hp1 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0074 | a0001c0001t0011g0252 a0001c0001t0074g0264 |
2 | 312 | 0.0064 | 1645 | c.*82 others(1656): Show |
SLC25A16 | ENSG00000122912.15 | transcript | ENST00000609923.6 | protein_coding | 2807 | chr10 | TogoVar | |||||||
SLC25A16_chr10_68472998_68532523 | 68475190 | T | TTTTTTGT others(1638): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG01978.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011a0001c0001t0022others(4): Show | a0001c0001t0003g0138 a0001c0001t0003g0247 a0001c0001t0003g0248 others(13): Show |
16 | 312 | 0.0513 | 1645 | c.*82 others(1656): Show |
SLC25A16 | ENSG00000122912.15 | transcript | ENST00000609923.6 | protein_coding | 2807 | chr10 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246071830 | A | ATGCATCG others(1638): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0003 | a0003c0015 | a0003c0015t0002 | a0003c0015t0002g0094 | 1 | 150 | 0.0067 | 1645 | c.532 others(1666): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SPAAR_chr9_35904490_35916686 | 35913714 | G | GTGTGTGT others(1638): Show |
downstream_gene_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0001 | 1 | 420 | 0.0024 | 1645 | c.*30 others(1656): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2029 | chr9 | TogoVar | |||||||
ZBTB34_chr9_126855639_126890878 | 126876163 | C | CTTCCCCC others(1638): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0197 | 1 | 246 | 0.0041 | 1645 | c.-10 others(1662): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ZNF605_chr12_132913306_132961306 | 132954429 | A | AGGAGAAG others(1638): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0014 | 1 | 126 | 0.0079 | 1645 | c.-28 others(1664): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
AP3D1_chr19_2095988_2156566 | 2128870 | C | CGCTCCGA others(1639): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0227 | 1 | 406 | 0.0025 | 1646 | c.806 others(1661): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 8/31 | chr19 | TogoVar | |||||||
CENPM_chr22_41933737_41952152 | 41939856 | G | GAAAAAGA others(1639): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0198 | 1 | 258 | 0.0039 | 1646 | c.403 others(1661): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | |||||||
CRTC3_chr15_90524923_90650345 | 90647357 | C | CTGCCACA others(1639): Show |
downstream_gene_variant | MODIFIER | HG01361.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0067 | 1 | 276 | 0.0036 | 1646 | c.*52 others(1657): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2013 | chr15 | TogoVar | |||||||
CRTC3_chr15_90524923_90650345 | 90647402 | C | CCCTCCTC others(1639): Show |
downstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 276 | 0.0036 | 1646 | c.*52 others(1657): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2058 | chr15 | TogoVar | |||||||
DNA2_chr10_68409064_68476973 | 68475190 | T | TTTTTTGT others(1639): Show |
upstream_gene_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0084 | 1 | 326 | 0.0031 | 1646 | c.-33 others(1657): Show |
DNA2 | ENSG00000138346.16 | transcript | ENST00000358410.8 | protein_coding | 3218 | chr10 | TogoVar | |||||||
DNA2_chr10_68409064_68476973 | 68475190 | T | TTTTTTGT others(1639): Show |
upstream_gene_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0068 | 1 | 326 | 0.0031 | 1646 | c.-33 others(1657): Show |
DNA2 | ENSG00000138346.16 | transcript | ENST00000358410.8 | protein_coding | 3218 | chr10 | TogoVar | |||||||
DPEP1_chr16_89608642_89643433 | 89634528 | C | CCCCTTCC others(1639): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 250 | 0.0040 | 1646 | c.105 others(1663): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586254 | C | CGGGGGGG others(1639): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0159 | 1 | 308 | 0.0033 | 1646 | c.157 others(1661): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322793 | A | ACGGAATA others(1639): Show |
upstream_gene_variant | MODIFIER | NA19010.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0030 | 1 | 323 | 0.0031 | 1646 | c.-22 others(1657): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2176 | chr21 | TogoVar | |||||||
KIF3B_chr20_32272651_32340011 | 32322993 | C | CATATTTA others(1639): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0025 | 1 | 242 | 0.0041 | 1646 | c.174 others(1665): Show |
KIF3B | ENSG00000101350.8 | transcript | ENST00000375712.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
LUC7L_chr16_183990_234449 | 186442 | G | GGAGGAAC others(1639): Show |
downstream_gene_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 350 | 0.0029 | 1646 | c.*27 others(1657): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2547 | chr16 | TogoVar | |||||||
OR2T1_chr1_248398048_248413020 | 248408890 | A | AGCATTTG others(1639): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0166 | 1 | 266 | 0.0038 | 1646 | c.*17 others(1657): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 871 | chr1 | TogoVar | |||||||
SLC25A16_chr10_68472998_68532523 | 68475190 | T | TTTTTTGT others(1639): Show |
downstream_gene_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0260 | 1 | 312 | 0.0032 | 1646 | c.*82 others(1657): Show |
SLC25A16 | ENSG00000122912.15 | transcript | ENST00000609923.6 | protein_coding | 2807 | chr10 | TogoVar | |||||||
SLC25A16_chr10_68472998_68532523 | 68475190 | T | TTTTTTGT others(1639): Show |
downstream_gene_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0246 | 1 | 312 | 0.0032 | 1646 | c.*82 others(1657): Show |
SLC25A16 | ENSG00000122912.15 | transcript | ENST00000609923.6 | protein_coding | 2807 | chr10 | TogoVar | |||||||
SLC25A16_chr10_68472998_68532523 | 68475190 | T | TTTTTTGT others(1639): Show |
downstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0268 | 1 | 312 | 0.0032 | 1646 | c.*82 others(1657): Show |
SLC25A16 | ENSG00000122912.15 | transcript | ENST00000609923.6 | protein_coding | 2807 | chr10 | TogoVar | |||||||
SPAAR_chr9_35904490_35916686 | 35913493 | C | CTGTATGT others(1639): Show |
downstream_gene_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005 | 1 | 420 | 0.0024 | 1646 | c.*28 others(1657): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 1808 | chr9 | TogoVar | |||||||
THEG_chr19_356747_381026 | 376879 | C | CCCCCACC others(1639): Show |
upstream_gene_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0129 | 1 | 370 | 0.0027 | 1646 | c.-91 others(1655): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 854 | chr19 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83022555 | C | CACTGTCC others(1640): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0256 | 1 | 266 | 0.0038 | 1647 | c.298 others(1664): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
FAM120B_chr6_170301758_170412067 | 170377914 | C | CGCCCGGG others(1640): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0067 | 1 | 289 | 0.0035 | 1647 | c.228 others(1668): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GLIS2_chr16_4311067_4344595 | 4344496 | C | CTGTGAGA others(1640): Show |
downstream_gene_variant | MODIFIER | HG01934.hp2 HG02630.hp2 NA18944.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0044 a0001c0002t0001g0162 a0001c0002t0003g0134 |
3 | 395 | 0.0076 | 1647 | c.*69 others(1658): Show |
GLIS2 | ENSG00000126603.9 | transcript | ENST00000433375.2 | protein_coding | 4902 | chr16 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3502045 | C | CCCCCACA others(1640): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0018 | a0018c0015 | a0018c0015t0004 | a0018c0015t0004g0015 | 1 | 292 | 0.0034 | 1647 | c.218 others(1664): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
MYLK4_chr6_2658637_2755922 | 2694524 | G | GTGGTGGT others(1640): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0187 | 1 | 384 | 0.0026 | 1647 | c.160 others(1664): Show |
MYLK4 | ENSG00000145949.12 | transcript | ENST00000274643.9 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
MYT1L_chr2_1784113_2336275 | 1861913 | T | TGGATCCT others(1640): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0041 | 1 | 104 | 0.0096 | 1647 | c.271 others(1668): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 18/24 | chr2 | TogoVar | |||||||
PAM16_chr16_4335251_4356321 | 4344496 | C | CTGTGAGA others(1640): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0212 | 1 | 367 | 0.0027 | 1647 | c.4-1 others(1660): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
PAM16_chr16_4335251_4356321 | 4344496 | C | CTGTGAGA others(1640): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0213 | 1 | 367 | 0.0027 | 1647 | c.4-1 others(1660): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
PAM16_chr16_4335251_4356321 | 4344496 | C | CTGTGAGA others(1640): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02630.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0197 a0002c0002t0001g0198 |
2 | 367 | 0.0055 | 1647 | c.4-1 others(1660): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137502702 | G | GAGGGGGA others(1640): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0043 | 1 | 188 | 0.0053 | 1647 | c.147 others(1664): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31431776 | A | AATAGGGT others(1640): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0251 | 1 | 376 | 0.0027 | 1647 | c.101 others(1666): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432174 | T | TAGGGTGG others(1640): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0194 | 1 | 376 | 0.0027 | 1647 | c.101 others(1664): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC44A5_chr1_75197129_75616114 | 75280137 | T | TATATATA others(1640): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0103 | 1 | 156 | 0.0064 | 1647 | c.176 others(1664): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 5/23 | chr1 | TogoVar | |||||||
ANO9_chr11_412938_447011 | 431622 | C | CGGGTATC others(1641): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01515.hp1 |
a0008 | a0008c0011 | a0008c0011t0001 | a0008c0011t0001g0005 | 2 | 286 | 0.0070 | 1648 | c.539 others(1661): Show |
ANO9 | ENSG00000185101.13 | transcript | ENST00000332826.7 | protein_coding | 7/22 | chr11 | TogoVar |