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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL18A1_chr21_45400165_45518720 | 45431488 | A | AGGGGGGC others(378): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0160 | 1 | 128 | 0.0078 | 385 | c.106 others(404): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45431488 | A | AGGTGGGC others(378): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02630.hp1 HG02895.hp1 others(1): Show |
a0002a0011a0012 | a0002c0012a0011c0099a0012c0037 | a0002c0012t0004a0011c0099t0004a0012c0037t0009 | a0002c0012t0004g0188 a0011c0099t0004g0199 a0012c0037t0009g0200 others(1): Show |
4 | 131 | 0.0305 | 385 | c.106 others(404): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL27A1_chr9_114150537_114317511 | 114278403 | T | TGGTGATA others(378): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01168.hp2 HG01169.hp2 others(2): Show |
a0001a0012 | a0001c0002a0001c0010a0001c0187others(1): Show | a0001c0002t0007a0001c0010t0002a0001c0187t0002others(1): Show | a0001c0002t0007g0137 a0001c0010t0002g0120 a0001c0010t0002g0132 others(2): Show |
5 | 24 | 0.2083 | 385 | c.371 others(404): Show |
COL27A1 | ENSG00000196739.15 | transcript | ENST00000356083.8 | protein_coding | 37/60 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL9A3_chr20_62812050_62846159 | 62825064 | A | AGGCTGGG others(378): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 350 | 0.0029 | 385 | c.630 others(398): Show |
COL9A3 | ENSG00000092758.18 | transcript | ENST00000649368.1 | protein_coding | 12/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
COL9A3_chr20_62812050_62846159 | 62825130 | A | AGGGAGGG others(378): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0298 | 1 | 220 | 0.0045 | 385 | c.630 others(400): Show |
COL9A3 | ENSG00000092758.18 | transcript | ENST00000649368.1 | protein_coding | 12/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
COQ8A_chr1_226935294_226992544 | 226960361 | T | TTGGTGGT others(378): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 393 | 0.0025 | 385 | c.-9- others(400): Show |
COQ8A | ENSG00000163050.18 | transcript | ENST00000366777.4 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
COQ8A_chr1_226935294_226992544 | 226960391 | A | AGTGGTAC others(378): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01952.hp1 |
a0001a0005 | a0001c0001a0005c0018 | a0001c0001t0001a0005c0018t0011 | a0001c0001t0001g0105 a0005c0018t0011g0127 |
2 | 21 | 0.0952 | 385 | c.-9- others(398): Show |
COQ8A | ENSG00000163050.18 | transcript | ENST00000366777.4 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19461746 | C | CCACATTC others(378): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp2 others(37): Show |
a0001a0002a0009others(1): Show | a0001c0001a0002c0004a0009c0015others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(9): Show | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0021 others(37): Show |
40 | 194 | 0.2062 | 385 | c.635 others(402): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19461746 | C | CCACATTC others(378): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 155 | 0.0065 | 385 | c.635 others(402): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19461746 | C | CCACATTC others(378): Show |
intron_variant | MODIFIER | HG01106.hp2 HG03688.hp1 NA18941.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0010a0002c0004t0013 | a0001c0001t0001g0061 a0001c0001t0001g0119 a0001c0001t0010g0088 others(1): Show |
4 | 158 | 0.0253 | 385 | c.635 others(402): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19461746 | C | CCACATTC others(378): Show |
intron_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 155 | 0.0065 | 385 | c.635 others(402): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
CSK_chr15_74777080_74808197 | 74794089 | C | CTCCCCGC others(378): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0136 | 1 | 391 | 0.0026 | 385 | c.-65 others(402): Show |
CSK | ENSG00000103653.17 | transcript | ENST00000220003.14 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
DACH1_chr13_71432966_71872204 | 71734197 | A | ACCCCATA others(378): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0062 | 1 | 82 | 0.0122 | 385 | c.849 others(404): Show |
DACH1 | ENSG00000276644.5 | transcript | ENST00000613252.5 | protein_coding | 1/10 | chr13 | TogoVar | |||||||
DBNDD1_chr16_89999871_90024456 | 90003460 | C | CGGCCCGG others(378): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG02083.hp1 HG02135.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 a0001c0002t0001g0020 a0001c0002t0001g0060 others(2): Show |
5 | 352 | 0.0142 | 385 | c.*28 others(396): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 1410 | chr16 | TogoVar | |||||||
DBNDD1_chr16_89999871_90024456 | 90003460 | C | CGGCCCGG others(378): Show |
downstream_gene_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 348 | 0.0029 | 385 | c.*28 others(396): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 1410 | chr16 | TogoVar | |||||||
DBNDD1_chr16_89999871_90024456 | 90003711 | C | CGGGACTT others(378): Show |
downstream_gene_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0243 | 1 | 343 | 0.0029 | 385 | c.*26 others(396): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 1159 | chr16 | TogoVar | |||||||
DBNDD1_chr16_89999871_90024456 | 90003721 | G | GTGACTCC others(378): Show |
downstream_gene_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0061 | 1 | 378 | 0.0026 | 385 | c.*26 others(396): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 1149 | chr16 | TogoVar | |||||||
DBNDD1_chr16_89999871_90024456 | 90003819 | G | GGCGGGAC others(378): Show |
downstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0029 | 1 | 408 | 0.0025 | 385 | c.*25 others(396): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 1051 | chr16 | TogoVar | |||||||
DBNDD1_chr16_89999871_90024456 | 90004010 | T | TGGCCCGG others(378): Show |
downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 283 | 0.0035 | 385 | c.*23 others(396): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 860 | chr16 | TogoVar | |||||||
DBNDD1_chr16_89999871_90024456 | 90004122 | G | GCCCGGGC others(378): Show |
downstream_gene_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 1 | 365 | 0.0027 | 385 | c.*22 others(396): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 748 | chr16 | TogoVar | |||||||
DCLK2_chr4_150073445_150262438 | 150251171 | C | CACCCCCA others(378): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0024 | 1 | 107 | 0.0093 | 385 | c.207 others(404): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DIDO1_chr20_62872743_62931505 | 62875320 | C | CCACCCCC others(378): Show |
downstream_gene_variant | MODIFIER | HG02818.hp1 HG03453.hp1 |
a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0212 a0005c0005t0002g0214 |
2 | 285 | 0.0070 | 385 | c.*39 others(396): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 2422 | chr20 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 556272 | A | ACCCCTCC others(378): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0013 | 1 | 60 | 0.0167 | 385 | c.86- others(402): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | |||||||
DISP3_chr1_11474155_11542551 | 11522827 | G | GCCCAGCC others(378): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0021 | a0001c0021t0008 | a0001c0021t0008g0191 | 1 | 324 | 0.0031 | 385 | c.236 others(404): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1024472 | G | GAGGCAGA others(378): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0002 | a0002c0004 | a0002c0004t0018 | a0002c0004t0018g0010 | 1 | 8 | 0.1250 | 385 | c.73+ others(404): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DOP1A_chr6_83062671_83173471 | 83145193 | T | TATATATA others(378): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0050 | 1 | 273 | 0.0037 | 385 | c.554 others(402): Show |
DOP1A | ENSG00000083097.15 | transcript | ENST00000349129.7 | protein_coding | 24/38 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ENTR1_chr9_136396922_136415614 | 136403416 | C | CGGGGGAA others(378): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0005 | a0005c0013 | a0005c0013t0002 | a0005c0013t0002g0116 | 1 | 357 | 0.0028 | 385 | c.120 others(402): Show |
ENTR1 | ENSG00000165689.17 | transcript | ENST00000357365.8 | protein_coding | 9/9 | chr9 | TogoVar | |||||||
ETDB_chrX_135113955_135125526 | 135115020 | T | TATATATA others(378): Show |
downstream_gene_variant | MODIFIER | HG01069.hp1 HG01070.hp2 HG01081.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0003 a0001c0001t0004g0011 |
4 | 7 | 0.5714 | 385 | c.*40 others(396): Show |
ETDB | ENSG00000224107.5 | transcript | ENST00000423661.1 | protein_coding | 3934 | chrX | TogoVar | |||||||
FBXO34_chr14_55266421_55358611 | 55331803 | T | TATATATA others(378): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0235 | 1 | 63 | 0.0159 | 385 | c.-10 others(404): Show |
FBXO34 | ENSG00000178974.11 | transcript | ENST00000313833.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
FHIT_chr3_59742277_61256452 | 59986774 | A | ATATATTT others(378): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0028 | 1 | 32 | 0.0313 | 385 | c.279 others(404): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 7/9 | chr3 | TogoVar | |||||||
FLACC1_chr2_201283271_201362345 | 201284695 | G | GGGGAGAG others(378): Show |
downstream_gene_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0284 | 1 | 224 | 0.0045 | 385 | c.*39 others(396): Show |
FLACC1 | ENSG00000155749.13 | transcript | ENST00000392257.8 | protein_coding | 3575 | chr2 | TogoVar | |||||||
FLT3_chr13_27998274_28105576 | 27998833 | A | AATATATG others(378): Show |
downstream_gene_variant | MODIFIER | HG01358.hp2 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0274 | 1 | 289 | 0.0035 | 385 | c.*52 others(396): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4440 | chr13 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586503 | G | GGGGAAAG others(378): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0144 | 1 | 234 | 0.0043 | 385 | c.157 others(402): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241805865 | C | CCCCCCTC others(378): Show |
downstream_gene_variant | MODIFIER | HG02258.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0113 | 1 | 308 | 0.0032 | 385 | c.*16 others(396): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1579 | chr2 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132262650 | C | CGGTCAGG others(378): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02280.hp1 HG02976.hp2 others(2): Show |
a0001 | a0001c0010a0001c0029 | a0001c0010t0001a0001c0029t0003 | a0001c0010t0001g0085 a0001c0010t0001g0086 a0001c0010t0001g0087 others(2): Show |
5 | 181 | 0.0276 | 385 | c.420 others(398): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 2/10 | chr12 | TogoVar | |||||||
GPBP1_chr5_57169059_57269673 | 57249839 | T | TCCCGTCC others(378): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 102 | 0.0098 | 385 | c.972 others(400): Show |
GPBP1 | ENSG00000062194.16 | transcript | ENST00000506184.7 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240625999 | G | GTGATGGG others(378): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0067 | 1 | 398 | 0.0025 | 385 | c.-5+ others(398): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GSE1_chr16_85608322_85681200 | 85653216 | C | CTCCTCCC others(378): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0006 | a0006c0042 | a0006c0042t0062 | a0006c0042t0062g0075 | 1 | 207 | 0.0048 | 385 | c.427 others(402): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 3/15 | chr16 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33323151 | T | TATATATA others(378): Show |
upstream_gene_variant | MODIFIER | HG02895.hp2 | a0003 | a0003c0003 | a0003c0003t0009 | a0003c0003t0009g0117 | 1 | 302 | 0.0033 | 385 | c.-19 others(396): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1818 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33323151 | T | TATATATA others(378): Show |
upstream_gene_variant | MODIFIER | HG02897.hp1 | a0003 | a0003c0003 | a0003c0003t0009 | a0003c0003t0009g0119 | 1 | 302 | 0.0033 | 385 | c.-19 others(396): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1818 | chr21 | TogoVar | |||||||
INO80_chr15_40973880_41121280 | 41031545 | A | AGGAAGGG others(378): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0150 | 1 | 154 | 0.0065 | 385 | c.290 others(404): Show |
INO80 | ENSG00000128908.19 | transcript | ENST00000648947.1 | protein_coding | 24/35 | chr15 | TogoVar | |||||||
KAZN_chr1_14593685_15123043 | 14652506 | C | CCTATCCA others(378): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0001 | 1 | 74 | 0.0135 | 385 | c.226 others(404): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNK2_chr1_215077737_215242090 | 215209559 | T | TATATATA others(378): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0002 | a0001c0002t0034 | a0001c0002t0034g0104 | 1 | 201 | 0.0050 | 385 | c.963 others(404): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNK2_chr1_215077737_215242090 | 215209560 | A | ATATATAT others(378): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0002 | a0001c0002t0038 | a0001c0002t0038g0094 | 1 | 185 | 0.0054 | 385 | c.963 others(404): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNK2_chr1_215077737_215242090 | 215209560 | A | ATATATAT others(378): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0102 | 1 | 185 | 0.0054 | 385 | c.963 others(404): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNK2_chr1_215077737_215242090 | 215209560 | A | ATATATAT others(378): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0204 | 1 | 185 | 0.0054 | 385 | c.963 others(404): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNK2_chr1_215077737_215242090 | 215209560 | A | ATATATAT others(378): Show |
intron_variant | MODIFIER | NA18955.hp2 NA18989.hp1 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0031 | a0001c0001t0002g0157 a0001c0001t0005g0201 a0001c0001t0031g0158 |
3 | 187 | 0.0160 | 385 | c.963 others(404): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124610420 | T | TGAGGGTG others(378): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 257 | 0.0039 | 385 | c.717 others(402): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LRFN2_chr6_40386591_40592364 | 40491647 | C | CATTTTGC others(378): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02258.hp2 HG02451.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(3): Show | a0001c0001t0001g0028 a0001c0001t0001g0046 a0001c0001t0001g0052 others(12): Show |
15 | 226 | 0.0664 | 385 | c.-18 others(404): Show |
LRFN2 | ENSG00000156564.10 | transcript | ENST00000338305.7 | protein_coding | 1/2 | chr6 | TogoVar | |||||||
LRFN2_chr6_40386591_40592364 | 40491696 | G | GTGTTTCC others(378): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 207 | 0.0048 | 385 | c.-18 others(404): Show |
LRFN2 | ENSG00000156564.10 | transcript | ENST00000338305.7 | protein_coding | 1/2 | chr6 | TogoVar |