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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SNX7_chr1_98656721_98765500 | 98756375 | T | TTATAGAT others(6130): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0157 | 1 | 378 | 0.0027 | 6137 | c.127 others(6156): Show |
SNX7 | ENSG00000162627.17 | transcript | ENST00000306121.8 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7863942 | T | TCACAACC others(6131): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0005 | a0002c0005t0004 | a0002c0005t0004g0307 | 1 | 318 | 0.0031 | 6138 | c.225 others(6155): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
SCFD1_chr14_30617319_30740850 | 30681602 | G | GCTCAATA others(6131): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0269 | 1 | 328 | 0.0031 | 6138 | c.124 others(6157): Show |
SCFD1 | ENSG00000092108.22 | transcript | ENST00000458591.7 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SCFD1_chr14_30617319_30740850 | 30681602 | G | GCTCAATA others(6131): Show |
intron_variant | MODIFIER | NA18990.hp1 NA19011.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0253 a0002c0002t0001g0254 |
2 | 328 | 0.0061 | 6138 | c.124 others(6157): Show |
SCFD1 | ENSG00000092108.22 | transcript | ENST00000458591.7 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SCFD1_chr14_30617319_30740850 | 30681602 | G | GCTCAATA others(6131): Show |
intron_variant | MODIFIER | NA19078.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0301 | 1 | 328 | 0.0031 | 6138 | c.124 others(6157): Show |
SCFD1 | ENSG00000092108.22 | transcript | ENST00000458591.7 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SCFD1_chr14_30617319_30740850 | 30681602 | G | GCTCAATA others(6131): Show |
intron_variant | MODIFIER | NA18983.hp1 NA18999.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0222 a0002c0002t0001g0249 |
2 | 328 | 0.0061 | 6138 | c.124 others(6157): Show |
SCFD1 | ENSG00000092108.22 | transcript | ENST00000458591.7 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SCFD1_chr14_30617319_30740850 | 30681602 | G | GCTCAATA others(6131): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0322 | 1 | 328 | 0.0031 | 6138 | c.124 others(6157): Show |
SCFD1 | ENSG00000092108.22 | transcript | ENST00000458591.7 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SCFD1_chr14_30617319_30740850 | 30681602 | G | GCTCAATA others(6131): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0302 | 1 | 328 | 0.0031 | 6138 | c.124 others(6157): Show |
SCFD1 | ENSG00000092108.22 | transcript | ENST00000458591.7 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SNX7_chr1_98656721_98765500 | 98756375 | T | TTATAGAT others(6131): Show |
intron_variant | MODIFIER | HG01496.hp1 NA18968.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0190 a0002c0003t0001g0193 |
2 | 378 | 0.0053 | 6138 | c.127 others(6157): Show |
SNX7 | ENSG00000162627.17 | transcript | ENST00000306121.8 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SNX7_chr1_98656721_98765500 | 98756375 | T | TTATAGAT others(6131): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0194 | 1 | 378 | 0.0027 | 6138 | c.127 others(6157): Show |
SNX7 | ENSG00000162627.17 | transcript | ENST00000306121.8 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SNX7_chr1_98656721_98765500 | 98756375 | T | TTATAGAT others(6131): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0196 | 1 | 378 | 0.0027 | 6138 | c.127 others(6157): Show |
SNX7 | ENSG00000162627.17 | transcript | ENST00000306121.8 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NEK11_chr3_131021877_131355465 | 131350923 | C | CAACAATA others(6132): Show |
downstream_gene_variant | MODIFIER | HG02486.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0085 | 1 | 292 | 0.0034 | 6139 | c.*11 others(6150): Show |
NEK11 | ENSG00000114670.14 | transcript | ENST00000383366.9 | protein_coding | 459 | chr3 | TogoVar | |||||||
SCFD1_chr14_30617319_30740850 | 30681602 | G | GCTCAATA others(6132): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0256 | 1 | 328 | 0.0031 | 6139 | c.124 others(6158): Show |
SCFD1 | ENSG00000092108.22 | transcript | ENST00000458591.7 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SCFD1_chr14_30617319_30740850 | 30681602 | G | GCTCAATA others(6132): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0225 | 1 | 328 | 0.0031 | 6139 | c.124 others(6158): Show |
SCFD1 | ENSG00000092108.22 | transcript | ENST00000458591.7 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SCFD1_chr14_30617319_30740850 | 30681602 | G | GCTCAATA others(6132): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0255 | 1 | 328 | 0.0031 | 6139 | c.124 others(6158): Show |
SCFD1 | ENSG00000092108.22 | transcript | ENST00000458591.7 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SCFD1_chr14_30617319_30740850 | 30681602 | G | GCTCAATA others(6132): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0258 | 1 | 328 | 0.0031 | 6139 | c.124 others(6158): Show |
SCFD1 | ENSG00000092108.22 | transcript | ENST00000458591.7 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SCFD1_chr14_30617319_30740850 | 30681602 | G | GCTCAATA others(6132): Show |
intron_variant | MODIFIER | NA18988.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0259 | 1 | 328 | 0.0031 | 6139 | c.124 others(6158): Show |
SCFD1 | ENSG00000092108.22 | transcript | ENST00000458591.7 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SNX7_chr1_98656721_98765500 | 98756375 | T | TTATAGAT others(6132): Show |
intron_variant | MODIFIER | NA18987.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0188 | 1 | 378 | 0.0027 | 6139 | c.127 others(6158): Show |
SNX7 | ENSG00000162627.17 | transcript | ENST00000306121.8 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SNX7_chr1_98656721_98765500 | 98756375 | T | TTATAGAT others(6132): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0021 | 1 | 378 | 0.0027 | 6139 | c.127 others(6158): Show |
SNX7 | ENSG00000162627.17 | transcript | ENST00000306121.8 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NEK11_chr3_131021877_131355465 | 131350923 | C | CAACAATA others(6133): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0086 | 1 | 292 | 0.0034 | 6140 | c.*11 others(6151): Show |
NEK11 | ENSG00000114670.14 | transcript | ENST00000383366.9 | protein_coding | 459 | chr3 | TogoVar | |||||||
NEK11_chr3_131021877_131355465 | 131350923 | C | CAACAATA others(6133): Show |
downstream_gene_variant | MODIFIER | HG01255.hp1 HG02486.hp1 HG02559.hp2 |
a0002a0006 | a0002c0005a0006c0009 | a0002c0005t0001a0006c0009t0001 | a0002c0005t0001g0162 a0002c0005t0001g0163 a0006c0009t0001g0166 |
3 | 292 | 0.0103 | 6140 | c.*11 others(6151): Show |
NEK11 | ENSG00000114670.14 | transcript | ENST00000383366.9 | protein_coding | 459 | chr3 | TogoVar | |||||||
NEK11_chr3_131021877_131355465 | 131350923 | C | CAACAATA others(6133): Show |
downstream_gene_variant | MODIFIER | HG03225.hp2 | a0012 | a0012c0016 | a0012c0016t0001 | a0012c0016t0001g0207 | 1 | 292 | 0.0034 | 6140 | c.*11 others(6151): Show |
NEK11 | ENSG00000114670.14 | transcript | ENST00000383366.9 | protein_coding | 459 | chr3 | TogoVar | |||||||
SCFD1_chr14_30617319_30740850 | 30681602 | G | GCTCAATA others(6133): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0252 | 1 | 328 | 0.0031 | 6140 | c.124 others(6159): Show |
SCFD1 | ENSG00000092108.22 | transcript | ENST00000458591.7 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SCFD1_chr14_30617319_30740850 | 30681602 | G | GCTCAATA others(6133): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0250 | 1 | 328 | 0.0031 | 6140 | c.124 others(6159): Show |
SCFD1 | ENSG00000092108.22 | transcript | ENST00000458591.7 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SNX7_chr1_98656721_98765500 | 98756375 | T | TTATAGAT others(6133): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0279 | 1 | 378 | 0.0027 | 6140 | c.127 others(6159): Show |
SNX7 | ENSG00000162627.17 | transcript | ENST00000306121.8 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586499 | C | CGGGGGGG others(6134): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0059 | 1 | 308 | 0.0033 | 6141 | c.157 others(6158): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
NEK11_chr3_131021877_131355465 | 131350923 | C | CAACAATA others(6134): Show |
downstream_gene_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0091 | 1 | 292 | 0.0034 | 6141 | c.*11 others(6152): Show |
NEK11 | ENSG00000114670.14 | transcript | ENST00000383366.9 | protein_coding | 459 | chr3 | TogoVar | |||||||
NEK11_chr3_131021877_131355465 | 131350923 | C | CAACAATA others(6134): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0216 | 1 | 292 | 0.0034 | 6141 | c.*11 others(6152): Show |
NEK11 | ENSG00000114670.14 | transcript | ENST00000383366.9 | protein_coding | 459 | chr3 | TogoVar | |||||||
SLCO1B3_chr12_20805705_20921911 | 20861140 | T | TAAGAATT others(6134): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0157 | 1 | 284 | 0.0035 | 6141 | c.481 others(6154): Show |
SLCO1B3 | ENSG00000111700.13 | transcript | ENST00000381545.8 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SNX7_chr1_98656721_98765500 | 98756375 | T | TTATAGAT others(6134): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0189 | 1 | 378 | 0.0027 | 6141 | c.127 others(6160): Show |
SNX7 | ENSG00000162627.17 | transcript | ENST00000306121.8 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NEK11_chr3_131021877_131355465 | 131350923 | C | CAACAATA others(6135): Show |
downstream_gene_variant | MODIFIER | HG06807.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0090 | 1 | 292 | 0.0034 | 6142 | c.*11 others(6153): Show |
NEK11 | ENSG00000114670.14 | transcript | ENST00000383366.9 | protein_coding | 459 | chr3 | TogoVar | |||||||
NEK11_chr3_131021877_131355465 | 131350923 | C | CAACAATA others(6135): Show |
downstream_gene_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0010 | 1 | 292 | 0.0034 | 6142 | c.*11 others(6153): Show |
NEK11 | ENSG00000114670.14 | transcript | ENST00000383366.9 | protein_coding | 459 | chr3 | TogoVar | |||||||
CORIN_chr4_47589001_47843067 | 47791945 | T | TAAACTAT others(6136): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0108 | 1 | 264 | 0.0038 | 6143 | c.209 others(6160): Show |
CORIN | ENSG00000145244.12 | transcript | ENST00000273857.9 | protein_coding | 2/21 | chr4 | TogoVar | |||||||
NEK11_chr3_131021877_131355465 | 131350923 | C | CAACAATA others(6136): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 HG03139.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0152 a0002c0002t0002g0266 |
2 | 292 | 0.0069 | 6143 | c.*11 others(6154): Show |
NEK11 | ENSG00000114670.14 | transcript | ENST00000383366.9 | protein_coding | 459 | chr3 | TogoVar | |||||||
NEK11_chr3_131021877_131355465 | 131350923 | C | CAACAATA others(6136): Show |
downstream_gene_variant | MODIFIER | HG02970.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0092 | 1 | 292 | 0.0034 | 6143 | c.*11 others(6154): Show |
NEK11 | ENSG00000114670.14 | transcript | ENST00000383366.9 | protein_coding | 459 | chr3 | TogoVar | |||||||
NEK11_chr3_131021877_131355465 | 131350923 | C | CAACAATA others(6136): Show |
downstream_gene_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0076 | 1 | 292 | 0.0034 | 6143 | c.*11 others(6154): Show |
NEK11 | ENSG00000114670.14 | transcript | ENST00000383366.9 | protein_coding | 459 | chr3 | TogoVar | |||||||
SNX7_chr1_98656721_98765500 | 98756375 | T | TTATAGAT others(6136): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0195 | 1 | 378 | 0.0027 | 6143 | c.127 others(6162): Show |
SNX7 | ENSG00000162627.17 | transcript | ENST00000306121.8 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NEK11_chr3_131021877_131355465 | 131350923 | C | CAACAATA others(6137): Show |
downstream_gene_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0094 | 1 | 292 | 0.0034 | 6144 | c.*11 others(6155): Show |
NEK11 | ENSG00000114670.14 | transcript | ENST00000383366.9 | protein_coding | 459 | chr3 | TogoVar | |||||||
NEK11_chr3_131021877_131355465 | 131350923 | C | CAACAATA others(6137): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 HG03209.hp2 |
a0002a0009 | a0002c0002a0009c0015 | a0002c0002t0001a0009c0015t0002 | a0002c0002t0001g0050 a0009c0015t0002g0095 |
2 | 292 | 0.0069 | 6144 | c.*11 others(6155): Show |
NEK11 | ENSG00000114670.14 | transcript | ENST00000383366.9 | protein_coding | 459 | chr3 | TogoVar | |||||||
NEK11_chr3_131021877_131355465 | 131350923 | C | CAACAATA others(6137): Show |
downstream_gene_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0078 | 1 | 292 | 0.0034 | 6144 | c.*11 others(6155): Show |
NEK11 | ENSG00000114670.14 | transcript | ENST00000383366.9 | protein_coding | 459 | chr3 | TogoVar | |||||||
PTP4A3_chr8_141387021_141437454 | 141415691 | A | AGAGGGGT others(6137): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 2 | 323 | 0.0062 | 6144 | c.-85 others(6163): Show |
PTP4A3 | ENSG00000184489.13 | transcript | ENST00000521578.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136803146 | C | CCGGGGGC others(6138): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 398 | 0.0025 | 6145 | c.666 others(6160): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | chr9 | TogoVar | |||||||
RABL6_chr9_136802948_136846187 | 136803146 | C | CCGGGGGC others(6138): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 | a0003 | a0003c0014 | a0003c0014t0001 | a0003c0014t0001g0218 | 1 | 330 | 0.0030 | 6145 | c.-50 others(6156): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4801 | chr9 | TogoVar | |||||||
DCDC1_chr11_30858603_31374739 | 30962363 | T | TAAAACAG others(6141): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0051 | 1 | 152 | 0.0066 | 6148 | c.259 others(6167): Show |
DCDC1 | ENSG00000170959.15 | transcript | ENST00000684477.1 | protein_coding | 20/38 | chr11 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132241748 | A | ACACACCC others(6141): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0028 | a0001c0028t0001 | a0001c0028t0001g0144 | 1 | 183 | 0.0055 | 6148 | c.107 others(6167): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
TBXAS1_chr7_139824264_140025293 | 139950797 | G | GGGACCCC others(6141): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 270 | 0.0037 | 6148 | c.451 others(6165): Show |
TBXAS1 | ENSG00000059377.19 | transcript | ENST00000448866.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
WNK1_chr12_747579_916452 | 836932 | A | ACATTTAG others(6142): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0009 | a0009c0014 | a0009c0014t0002 | a0009c0014t0002g0049 | 1 | 284 | 0.0035 | 6149 | c.131 others(6168): Show |
WNK1 | ENSG00000060237.19 | transcript | ENST00000315939.11 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PAPPA2_chr1_176458175_176850601 | 176648887 | T | TAGTTTTC others(6143): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0029 | 1 | 118 | 0.0085 | 6150 | c.199 others(6171): Show |
PAPPA2 | ENSG00000116183.11 | transcript | ENST00000367662.5 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CHCHD6_chr3_126699240_126965420 | 126710881 | T | TAAAGACT others(6144): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 216 | 0.0046 | 6151 | c.87+ others(6166): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SCUBE1_chr22_43192280_43348372 | 43339807 | C | CACGCTCC others(6144): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0034 | 1 | 280 | 0.0036 | 6151 | c.89- others(6164): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar |