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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EEF1A2_chr20_63483014_63504083 | 63492360 | G | GGATGGAT others(437): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0125 | 1 | 374 | 0.0027 | 444 | c.772 others(459): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 5/7 | chr20 | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63492360 | G | GGATGGAT others(437): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00738.hp2 HG00741.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0002t0001a0001c0008t0001 | a0001c0001t0001g0155a0001c0002t0001g0014a0001c0002t0001g0018others(15): Show | 27 | 374 | 0.0722 | 444 | c.772 others(459): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 5/7 | chr20 | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63492360 | G | GGATGGAT others(437): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02257.hp2 HG02258.hp2 others(4): Show |
a0001 | a0001c0002a0001c0010 | a0001c0002t0001a0001c0010t0004 | a0001c0002t0001g0009a0001c0002t0001g0213a0001c0010t0004g0065 | 7 | 374 | 0.0187 | 444 | c.772 others(459): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 5/7 | chr20 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43730259 | A | AAAGGATG others(437): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0020 | a0020c0048 | a0020c0048t0001 | a0020c0048t0001g0177 | 1 | 290 | 0.0035 | 444 | c.757 others(461): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 8/31 | chr22 | TogoVar | ||||||
EIPR1_chr2_3183970_3382818 | 3315905 | C | CCACACCC others(437): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 250 | 0.0040 | 444 | c.259 others(463): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | ||||||
EIPR1_chr2_3183970_3382818 | 3315905 | C | CCACACCC others(437): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 250 | 0.0040 | 444 | c.259 others(463): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | ||||||
EIPR1_chr2_3183970_3382818 | 3315905 | C | CCACACCC others(437): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0163 | 1 | 250 | 0.0040 | 444 | c.259 others(463): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | ||||||
EML1_chr14_99788413_99947060 | 99928008 | G | GTGATGGT others(437): Show |
intron_variant | MODIFIER | HG02015.hp2 NA18969.hp2 NA19009.hp1 others(2): Show |
a0003 | a0003c0002 | a0003c0002t0001a0003c0002t0011a0003c0002t0016 | a0003c0002t0001g0166a0003c0002t0001g0201a0003c0002t0001g0207others(2): Show | 5 | 288 | 0.0174 | 444 | c.190 others(463): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ETFB_chr19_51340169_51371388 | 51353436 | C | CCTTCCTC others(437): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 436 | 0.0023 | 444 | c.216 others(459): Show |
ETFB | ENSG00000105379.10 | transcript | ENST00000309244.9 | protein_coding | 2/5 | chr19 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706405 | G | GATACATA others(437): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0300 | 1 | 369 | 0.0027 | 444 | c.-49 others(455): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4795 | chr4 | TogoVar | ||||||
F13A1_chr6_6139084_6325662 | 6261580 | G | GCCCTCCA others(437): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0004 | a0004c0004 | a0004c0004t0006 | a0004c0004t0006g0080 | 1 | 292 | 0.0034 | 444 | c.571 others(461): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 4/14 | chr6 | TogoVar | ||||||
FARP2_chr2_241351285_241499841 | 241355546 | T | TCGCCCAA others(437): Show |
upstream_gene_variant | MODIFIER | HG02647.hp1 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0154 | 1 | 378 | 0.0027 | 444 | c.-86 others(453): Show |
FARP2 | ENSG00000006607.14 | transcript | ENST00000264042.8 | protein_coding | 738 | chr2 | TogoVar | ||||||
FGFR4_chr5_177081915_177103144 | 177097066 | T | TCTCTTCC others(437): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0199 | 1 | 372 | 0.0027 | 444 | c.215 others(461): Show |
FGFR4 | ENSG00000160867.15 | transcript | ENST00000292408.9 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GAK_chr4_844277_937316 | 927089 | G | GCACTGCC others(437): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0316 | 1 | 390 | 0.0026 | 444 | c.145 others(461): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 1/27 | chr4 | TogoVar | ||||||
GAK_chr4_844277_937316 | 927171 | C | CCGCACCC others(437): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0121 | 1 | 390 | 0.0026 | 444 | c.145 others(461): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 1/27 | chr4 | TogoVar | ||||||
GLOD4_chr17_754330_787280 | 768031 | A | AAGAAGAA others(437): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02083.hp2 NA18940.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021a0001c0001t0001g0102 | 3 | 420 | 0.0071 | 444 | c.831 others(461): Show |
GLOD4 | ENSG00000167699.14 | transcript | ENST00000301329.11 | protein_coding | 8/8 | chr17 | TogoVar | ||||||
GMEB2_chr20_63582605_63632101 | 63607613 | A | ATCCATTT others(437): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0007 | a0001c0007t0007 | a0001c0007t0007g0039 | 1 | 330 | 0.0030 | 444 | c.132 others(461): Show |
GMEB2 | ENSG00000101216.11 | transcript | ENST00000370077.2 | protein_coding | 2/9 | chr20 | TogoVar | ||||||
GPBP1_chr5_57169059_57269673 | 57249833 | T | TCCCTTCC others(437): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0238 | 1 | 290 | 0.0035 | 444 | c.972 others(459): Show |
GPBP1 | ENSG00000062194.16 | transcript | ENST00000506184.7 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GPR173_chrX_53043789_53085615 | 53073912 | A | AATATATA others(437): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0197 | 1 | 208 | 0.0048 | 444 | c.-97 others(461): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GPR173_chrX_53043789_53085615 | 53074115 | T | TATATATA others(437): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0002 | a0001c0002t0054 | a0001c0002t0054g0057 | 1 | 208 | 0.0048 | 444 | c.-97 others(461): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
HTR5A_chr7_155065324_155092392 | 155088917 | C | CAGGTTGA others(437): Show |
downstream_gene_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 430 | 0.0023 | 444 | c.*44 others(455): Show |
HTR5A | ENSG00000157219.5 | transcript | ENST00000287907.3 | protein_coding | 1526 | chr7 | TogoVar | ||||||
ICA1_chr7_8108184_8267167 | 8152796 | T | TCCACCAC others(437): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 | 1 | 274 | 0.0037 | 444 | c.804 others(461): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9406174 | T | TCTTCCTC others(437): Show |
3_prime_UTR_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0129 | a0001c0001t0129g0086 | 1 | 276 | 0.0036 | 444 | c.*65 others(453): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 659 | chr2 | TogoVar | |||||
KAZN_chr1_14593685_15123043 | 14652486 | T | TCTGCCTA others(437): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0093 | 1 | 146 | 0.0069 | 444 | c.226 others(463): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KCNIP4_chr4_20723606_21953772 | 21346215 | T | TTATATAT others(437): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 80 | 0.0125 | 444 | c.62- others(463): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNK2_chr1_215077737_215242090 | 215209559 | T | TATATATA others(437): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0052 | a0001c0001t0024g0127a0001c0001t0052g0126 | 2 | 260 | 0.0077 | 444 | c.963 others(463): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KCNK2_chr1_215077737_215242090 | 215209590 | T | TATATAAA others(437): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0231 | 1 | 260 | 0.0039 | 444 | c.963 others(463): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KDM5B_chr1_202719495_202813421 | 202789600 | A | AAGGGGAA others(437): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02723.hp2 HG03516.hp1 |
a0001 | a0001c0005 | a0001c0005t0014 | a0001c0005t0014g0171a0001c0005t0014g0172a0001c0005t0014g0173 | 3 | 382 | 0.0079 | 444 | c.205 others(463): Show |
KDM5B | ENSG00000117139.18 | transcript | ENST00000367265.9 | protein_coding | 1/26 | chr1 | TogoVar | ||||||
KDM5B_chr1_202719495_202813421 | 202789600 | A | AAGGGGAA others(437): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0106 | 1 | 382 | 0.0026 | 444 | c.205 others(463): Show |
KDM5B | ENSG00000117139.18 | transcript | ENST00000367265.9 | protein_coding | 1/26 | chr1 | TogoVar | ||||||
KDM5B_chr1_202719495_202813421 | 202789600 | A | AAGGGGAA others(437): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00642.hp1 others(75): Show |
a0001a0002a0004 | a0001c0002a0001c0021a0002c0004others(2): Show | a0001c0002t0002a0001c0002t0007a0001c0002t0015others(9): Show | a0001c0002t0002g0007a0001c0002t0002g0038a0001c0002t0002g0041others(74): Show | 78 | 382 | 0.2042 | 444 | c.205 others(463): Show |
KDM5B | ENSG00000117139.18 | transcript | ENST00000367265.9 | protein_coding | 1/26 | chr1 | TogoVar | ||||||
KDM5B_chr1_202719495_202813421 | 202789600 | A | AAGGGGAA others(437): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02027.hp1 NA18747.hp1 others(8): Show |
a0001 | a0001c0001a0001c0017 | a0001c0001t0001a0001c0001t0019a0001c0017t0001 | a0001c0001t0001g0037a0001c0001t0001g0177a0001c0001t0001g0179others(8): Show | 11 | 382 | 0.0288 | 444 | c.205 others(463): Show |
KDM5B | ENSG00000117139.18 | transcript | ENST00000367265.9 | protein_coding | 1/26 | chr1 | TogoVar | ||||||
KDM5B_chr1_202719495_202813421 | 202789600 | A | AAGGGGAA others(437): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00544.hp2 others(54): Show |
a0001a0006 | a0001c0003a0001c0013a0006c0014 | a0001c0003t0004a0001c0003t0012a0001c0003t0022others(3): Show | a0001c0003t0004g0008a0001c0003t0004g0009a0001c0003t0004g0010others(51): Show | 57 | 382 | 0.1492 | 444 | c.205 others(463): Show |
KDM5B | ENSG00000117139.18 | transcript | ENST00000367265.9 | protein_coding | 1/26 | chr1 | TogoVar | ||||||
KDM5B_chr1_202719495_202813421 | 202789600 | A | AAGGGGAA others(437): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01358.hp2 HG01516.hp2 others(26): Show |
a0001a0008 | a0001c0002a0008c0019 | a0001c0002t0005a0001c0002t0006a0001c0002t0016others(1): Show | a0001c0002t0005g0013a0001c0002t0005g0014a0001c0002t0005g0019others(26): Show | 29 | 382 | 0.0759 | 444 | c.205 others(463): Show |
KDM5B | ENSG00000117139.18 | transcript | ENST00000367265.9 | protein_coding | 1/26 | chr1 | TogoVar | ||||||
KDM5B_chr1_202719495_202813421 | 202789600 | A | AAGGGGAA others(437): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(190): Show |
a0001a0003a0007 | a0001c0001a0001c0002a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(26): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(181): Show | 193 | 382 | 0.5052 | 444 | c.205 others(463): Show |
KDM5B | ENSG00000117139.18 | transcript | ENST00000367265.9 | protein_coding | 1/26 | chr1 | TogoVar | ||||||
KDM5B_chr1_202719495_202813421 | 202789600 | A | AAGGGGAA others(437): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02886.hp2 HG03098.hp2 |
a0001a0005 | a0001c0002a0005c0020 | a0001c0002t0002a0005c0020t0002 | a0001c0002t0002g0076a0001c0002t0002g0090a0005c0020t0002g0080 | 3 | 382 | 0.0079 | 444 | c.205 others(463): Show |
KDM5B | ENSG00000117139.18 | transcript | ENST00000367265.9 | protein_coding | 1/26 | chr1 | TogoVar | ||||||
KIF17_chr1_20659014_20723007 | 20712845 | T | TTATCTAT others(437): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02965.hp2 NA19030.hp2 |
a0003a0004 | a0003c0026a0003c0132a0004c0131 | a0003c0026t0001a0003c0132t0001a0004c0131t0006 | a0003c0026t0001g0382a0003c0132t0001g0371a0004c0131t0006g0380 | 3 | 414 | 0.0073 | 444 | c.480 others(459): Show |
KIF17 | ENSG00000117245.13 | transcript | ENST00000400463.8 | protein_coding | 3/14 | chr1 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997208 | G | GGGGGTCG others(437): Show |
upstream_gene_variant | MODIFIER | NA18955.hp2 | a0015 | a0015c0025 | a0015c0025t0001 | a0015c0025t0001g0229 | 1 | 375 | 0.0027 | 444 | c.-22 others(455): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 462 | chr6 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 168035444 | A | AGGCGGGA others(437): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0067 | 1 | 375 | 0.0027 | 444 | c.317 others(461): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KLK6_chr19_50953631_50974591 | 50959671 | A | AGAGAGAA others(437): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0123 | 1 | 316 | 0.0032 | 444 | c.583 others(459): Show |
KLK6 | ENSG00000167755.15 | transcript | ENST00000310157.7 | protein_coding | 6/6 | chr19 | TogoVar | ||||||
KRTAP21-2_chr21_30741794_30752259 | 30742456 | T | TAACCATA others(437): Show |
downstream_gene_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 380 | 0.0026 | 444 | c.*44 others(455): Show |
KRTAP21-2 | ENSG00000187026.3 | transcript | ENST00000333892.3 | protein_coding | 4337 | chr21 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 857692 | T | TCGGGACG others(437): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 294 | 0.0034 | 444 | c.153 others(463): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 857692 | T | TCGGGACG others(437): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0003 | a0003c0014 | a0003c0014t0001 | a0003c0014t0001g0010 | 1 | 294 | 0.0034 | 444 | c.153 others(463): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
LRP8_chr1_53237364_53333070 | 53283498 | T | TACTTACT others(437): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0181 | 1 | 296 | 0.0034 | 444 | c.368 others(461): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | ||||||
LRP8_chr1_53237364_53333070 | 53284196 | T | TACTTACC others(437): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0032 | 1 | 296 | 0.0034 | 444 | c.368 others(461): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | ||||||
LRP8_chr1_53237364_53333070 | 53284196 | T | TACTTACC others(437): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02647.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0005a0001c0004t0023 | a0001c0001t0005g0270a0001c0004t0023g0254 | 2 | 296 | 0.0068 | 444 | c.368 others(461): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | ||||||
LRP8_chr1_53237364_53333070 | 53284196 | T | TACTTACC others(437): Show |
intron_variant | MODIFIER | HG01891.hp2 HG03516.hp1 |
a0001a0006 | a0001c0001a0006c0014 | a0001c0001t0065a0006c0014t0004 | a0001c0001t0065g0283a0006c0014t0004g0027 | 2 | 296 | 0.0068 | 444 | c.368 others(461): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | ||||||
LRP8_chr1_53237364_53333070 | 53284196 | T | TACTTACC others(437): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0141a0001c0001t0005g0142 | 2 | 296 | 0.0068 | 444 | c.368 others(461): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | ||||||
LRRC24_chr8_144517388_144532033 | 144531191 | A | AGAGCAGC others(437): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 398 | 0.0025 | 444 | c.-42 others(455): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4159 | chr8 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364566 | C | CACCCACA others(437): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0002 | a0002c0004 | a0002c0004t0010 | a0002c0004t0010g0016 | 1 | 290 | 0.0035 | 444 | c.129 others(461): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MALRD1_chr10_19043801_19739478 | 19238066 | T | TATAATTA others(437): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03130.hp1 NA21309.hp1 |
a0009a0019a0078 | a0009c0040a0019c0009a0078c0087 | a0009c0040t0002a0019c0009t0002a0078c0087t0003 | a0009c0040t0002g0067a0019c0009t0002g0091a0078c0087t0003g0106 | 3 | 152 | 0.0197 | 444 | c.299 others(465): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 18/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |