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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLC25A41_chr19_6421037_6438763 | 6429376 | G | GGAAGGGA others(635): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0202 | 1 | 350 | 0.0029 | 642 | c.624 others(657): Show |
SLC25A41 | ENSG00000181240.14 | transcript | ENST00000321510.7 | protein_coding | 4/6 | chr19 | TogoVar | |||||||
SLC25A41_chr19_6421037_6438763 | 6429376 | G | GGAAGGGA others(635): Show |
intron_variant | MODIFIER | HG02129.hp1 NA19074.hp2 NA19080.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 |
3 | 350 | 0.0086 | 642 | c.624 others(657): Show |
SLC25A41 | ENSG00000181240.14 | transcript | ENST00000321510.7 | protein_coding | 4/6 | chr19 | TogoVar | |||||||
SLC25A41_chr19_6421037_6438763 | 6429376 | G | GGAAGGGA others(635): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(83): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 others(72): Show |
86 | 350 | 0.2457 | 642 | c.624 others(657): Show |
SLC25A41 | ENSG00000181240.14 | transcript | ENST00000321510.7 | protein_coding | 4/6 | chr19 | TogoVar | |||||||
SLC25A41_chr19_6421037_6438763 | 6429376 | G | GGAAGGGA others(635): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 | 1 | 350 | 0.0029 | 642 | c.624 others(657): Show |
SLC25A41 | ENSG00000181240.14 | transcript | ENST00000321510.7 | protein_coding | 4/6 | chr19 | TogoVar | |||||||
SLC37A3_chr7_140328752_140403530 | 140387809 | A | AAATATAA others(635): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0003 | a0003c0006 | a0003c0006t0003 | a0003c0006t0003g0181 | 1 | 346 | 0.0029 | 642 | c.-70 others(659): Show |
SLC37A3 | ENSG00000157800.18 | transcript | ENST00000326232.14 | protein_coding | 1/14 | chr7 | TogoVar | |||||||
SMIM47_chr19_50780728_50791160 | 50784590 | G | GGGAGGGA others(635): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 HG02922.hp1 HG02976.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 5 | 352 | 0.0142 | 642 | c.*12 others(653): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1137 | chr19 | TogoVar | |||||||
SMIM47_chr19_50780728_50791160 | 50784590 | G | GGGAGGGA others(635): Show |
downstream_gene_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 352 | 0.0028 | 642 | c.*12 others(653): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1137 | chr19 | TogoVar | |||||||
SMIM47_chr19_50780728_50791160 | 50784590 | G | GGGAGGGA others(635): Show |
downstream_gene_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 352 | 0.0028 | 642 | c.*12 others(653): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1137 | chr19 | TogoVar | |||||||
SMIM47_chr19_50780728_50791160 | 50784593 | A | AGGGAGGG others(635): Show |
downstream_gene_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 352 | 0.0028 | 642 | c.*12 others(653): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1134 | chr19 | TogoVar | |||||||
SMIM47_chr19_50780728_50791160 | 50784593 | A | AGGGAGGG others(635): Show |
downstream_gene_variant | MODIFIER | HG03239.hp1 HG04228.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 352 | 0.0057 | 642 | c.*12 others(653): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1134 | chr19 | TogoVar | |||||||
SPATA6_chr1_48290373_48477204 | 48384325 | G | GGAGGGAG others(635): Show |
intron_variant | MODIFIER | HG02523.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0156 a0001c0001t0002g0176 |
2 | 322 | 0.0062 | 642 | c.909 others(657): Show |
SPATA6 | ENSG00000132122.12 | transcript | ENST00000371847.8 | protein_coding | 9/12 | chr1 | TogoVar | |||||||
SPIRE2_chr16_89823475_89876319 | 89843760 | C | CGTGATCT others(635): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279 a0001c0001t0001g0284 |
2 | 356 | 0.0056 | 642 | c.245 others(659): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89843760 | C | CGTGATCT others(635): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0283 | 1 | 356 | 0.0028 | 642 | c.245 others(659): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
STK38L_chr12_27239286_27330959 | 27311587 | T | TATAAAAT others(635): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0326 | 1 | 374 | 0.0027 | 642 | c.394 others(657): Show |
STK38L | ENSG00000211455.8 | transcript | ENST00000389032.8 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TCF3_chr19_1604292_1657615 | 1629082 | C | CGGGAAGG others(635): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0184 | 1 | 352 | 0.0028 | 642 | c.299 others(659): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
TCF3_chr19_1604292_1657615 | 1629129 | C | CAGAGCTC others(635): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0015 | a0015c0028 | a0015c0028t0072 | a0015c0028t0072g0179 | 1 | 352 | 0.0028 | 642 | c.299 others(659): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
TLL2_chr10_96359608_96518926 | 96415729 | G | GTCTCTCT others(635): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0128 | 1 | 256 | 0.0039 | 642 | c.924 others(659): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 7/20 | chr10 | TogoVar | |||||||
TLL2_chr10_96359608_96518926 | 96415729 | G | GTCTCTCT others(635): Show |
intron_variant | MODIFIER | HG03017.hp1 HG03704.hp2 NA18951.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004a0001c0002t0007 | a0001c0001t0001g0185 a0001c0002t0004g0112 a0001c0002t0007g0129 |
3 | 256 | 0.0117 | 642 | c.924 others(659): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 7/20 | chr10 | TogoVar | |||||||
TLL2_chr10_96359608_96518926 | 96415729 | G | GTCTCTCT others(635): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02965.hp1 |
a0001 | a0001c0002a0001c0008 | a0001c0002t0009a0001c0008t0009 | a0001c0002t0009g0123 a0001c0008t0009g0126 |
2 | 256 | 0.0078 | 642 | c.924 others(659): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 7/20 | chr10 | TogoVar | |||||||
TP53AIP1_chr11_128930370_128947871 | 128930835 | G | GTTAGGGA others(635): Show |
downstream_gene_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 466 | 0.0022 | 642 | c.*47 others(653): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4534 | chr11 | TogoVar | |||||||
TXNDC16_chr14_52425596_52557505 | 52530408 | T | TATATATT others(635): Show |
intron_variant | MODIFIER | HG03490.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 a0001c0001t0001g0152 |
2 | 238 | 0.0084 | 642 | c.392 others(659): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | |||||||
ZNF516_chr18_76352682_76500242 | 76401788 | C | CCCCCGCG others(635): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0187 | a0001c0001t0187g0089 | 1 | 346 | 0.0029 | 642 | c.181 others(663): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100011300 | G | GGGGAGGG others(636): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0005 | a0005c0037 | a0005c0037t0002 | a0005c0037t0002g0140 | 1 | 228 | 0.0044 | 643 | c.259 others(664): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72456223 | A | AGTATGTA others(636): Show |
intron_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 182 | 0.0055 | 643 | c.505 others(662): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113419038 | C | CCCCTTCC others(636): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0106 | 1 | 262 | 0.0038 | 643 | c.106 others(662): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 835481 | T | TGCAGCCT others(636): Show |
downstream_gene_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 391 | 0.0026 | 643 | c.*36 others(654): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 2909378 | T | TGCCCCTC others(636): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0118 | 1 | 322 | 0.0031 | 643 | c.326 others(660): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 24/24 | chr7 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88888557 | T | TGGGGTGG others(636): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 284 | 0.0035 | 643 | c.712 others(660): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
CECR2_chr22_17364460_17563151 | 17524554 | G | GGCTAATT others(636): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0004 | a0004c0004 | a0004c0004t0017 | a0004c0004t0017g0313 | 1 | 324 | 0.0031 | 643 | c.110 others(660): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CNTN4_chr3_2093866_3062959 | 2705509 | A | ATATATAA others(636): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02451.hp1 NA19043.hp2 |
a0001a0006 | a0001c0001a0001c0002a0006c0027 | a0001c0001t0002a0001c0002t0002a0006c0027t0001 | a0001c0001t0002g0086 a0001c0002t0002g0102 a0006c0027t0001g0007 |
3 | 116 | 0.0259 | 643 | c.56- others(660): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 4/24 | chr3 | TogoVar | |||||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(636): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01106.hp2 HG02109.hp1 others(3): Show |
a0001a0010 | a0001c0003a0001c0006a0001c0017others(3): Show | a0001c0003t0010a0001c0006t0001a0001c0017t0022others(3): Show | a0001c0003t0010g0039 a0001c0006t0001g0108 a0001c0017t0022g0231 others(3): Show |
6 | 272 | 0.0221 | 643 | c.109 others(662): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DCDC2_chr6_24166755_24363059 | 24238180 | G | GGGAGGAA others(636): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 216 | 0.0046 | 643 | c.923 others(662): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 556156 | G | GCACCCAC others(636): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0076 | 1 | 88 | 0.0114 | 643 | c.86- others(660): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | |||||||
EGF_chr4_109907883_110018766 | 109921253 | T | TAGAAACT others(636): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02723.hp1 HG02965.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0020a0001c0001t0034 | a0001c0001t0012g0236 a0001c0001t0020g0233 a0001c0001t0020g0237 others(1): Show |
4 | 388 | 0.0103 | 643 | c.127 others(660): Show |
EGF | ENSG00000138798.13 | transcript | ENST00000265171.10 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
EIF3B_chr7_2349827_2385745 | 2377913 | C | CATGGAGG others(636): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 384 | 0.0026 | 643 | c.215 others(660): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | chr7 | TogoVar | |||||||
FGF21_chr19_48750524_48763330 | 48758867 | T | TCCCAGCA others(636): Show |
downstream_gene_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 456 | 0.0022 | 643 | c.*64 others(652): Show |
FGF21 | ENSG00000105550.10 | transcript | ENST00000593756.6 | protein_coding | 538 | chr19 | TogoVar | |||||||
GDF3_chr12_7684784_7700775 | 7688838 | C | CTACTCGG others(636): Show |
downstream_gene_variant | MODIFIER | NA18961.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0109 | 1 | 468 | 0.0021 | 643 | c.*10 others(654): Show |
GDF3 | ENSG00000184344.4 | transcript | ENST00000329913.4 | protein_coding | 945 | chr12 | TogoVar | |||||||
GSE1_chr16_85608322_85681200 | 85653220 | T | TCCTCCCC others(636): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0002 | a0002c0069 | a0002c0069t0002 | a0002c0069t0002g0024 | 1 | 290 | 0.0035 | 643 | c.427 others(660): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322909 | T | TAATATAT others(636): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0134 | 1 | 323 | 0.0031 | 643 | c.-21 others(654): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | |||||||
INPP5A_chr10_132532787_132788480 | 132775188 | G | GGGGCAGG others(636): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 | 1 | 204 | 0.0049 | 643 | c.978 others(660): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(636): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 312 | 0.0032 | 643 | c.-41 others(658): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KHSRP_chr19_6408102_6429811 | 6429376 | G | GGAAGGGA others(636): Show |
upstream_gene_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0071 | a0001c0001t0071g0137 | 1 | 386 | 0.0026 | 643 | c.-46 others(654): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4566 | chr19 | TogoVar | |||||||
KHSRP_chr19_6408102_6429811 | 6429376 | G | GGAAGGGA others(636): Show |
upstream_gene_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 386 | 0.0026 | 643 | c.-46 others(654): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4566 | chr19 | TogoVar | |||||||
KHSRP_chr19_6408102_6429811 | 6429376 | G | GGAAGGGA others(636): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0057 | a0001c0001t0057g0065 | 1 | 386 | 0.0026 | 643 | c.-46 others(654): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4566 | chr19 | TogoVar | |||||||
KIF25_chr6_167992671_168050091 | 167997395 | A | ATCTGCAG others(636): Show |
upstream_gene_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0328 | 1 | 375 | 0.0027 | 643 | c.-20 others(654): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 275 | chr6 | TogoVar | |||||||
MBD3L3_chr19_7051207_7063676 | 7061804 | A | AATATATA others(636): Show |
upstream_gene_variant | MODIFIER | HG01169.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0005 | 1 | 288 | 0.0035 | 643 | c.-32 others(654): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3129 | chr19 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTATAC others(636): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0002 | a0002c0015 | a0002c0015t0001 | a0002c0015t0001g0110 | 1 | 362 | 0.0028 | 643 | c.-75 others(662): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
NKAIN2_chr6_123798865_124830640 | 124687566 | T | TATATTCC others(636): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0060 | 1 | 66 | 0.0152 | 643 | c.474 others(662): Show |
NKAIN2 | ENSG00000188580.16 | transcript | ENST00000368417.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
NKAIN2_chr6_123798865_124830640 | 124687566 | T | TATATTCC others(636): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 66 | 0.0152 | 643 | c.474 others(662): Show |
NKAIN2 | ENSG00000188580.16 | transcript | ENST00000368417.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
NLRP8_chr19_55942832_55993629 | 55993508 | C | CCCCCTCC others(636): Show |
downstream_gene_variant | MODIFIER | HG03654.hp2 | a0003 | a0003c0004 | a0003c0004t0017 | a0003c0004t0017g0218 | 1 | 350 | 0.0029 | 643 | c.*55 others(654): Show |
NLRP8 | ENSG00000179709.8 | transcript | ENST00000291971.7 | protein_coding | 4880 | chr19 | TogoVar |