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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
H3C3_chr6_26040384_26050869 | 26043035 | C | CGTGATCC others(2202): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0000 | 1 | 62 | 0.0161 | 2209 | c.-23 others(2220): Show |
H3C3 | ENSG00000287080.2 | transcript | ENST00000612966.3 | protein_coding | 2348 | chr6 | TogoVar | |||||||
H3C3_chr6_26040384_26050869 | 26043035 | C | CGTGATCC others(2202): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 NA18945.hp1 NA18955.hp2 others(7): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0000 | 10 | 71 | 0.1408 | 2209 | c.-23 others(2220): Show |
H3C3 | ENSG00000287080.2 | transcript | ENST00000612966.3 | protein_coding | 2348 | chr6 | TogoVar | |||||||
H3C3_chr6_26040384_26050869 | 26043035 | C | CGTGATCC others(2202): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0000 | 1 | 62 | 0.0161 | 2209 | c.-23 others(2220): Show |
H3C3 | ENSG00000287080.2 | transcript | ENST00000612966.3 | protein_coding | 2348 | chr6 | TogoVar | |||||||
H3C3_chr6_26040384_26050869 | 26043035 | C | CGTGATCC others(2202): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 HG02109.hp2 HG02647.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 8 | 69 | 0.1159 | 2209 | c.-23 others(2220): Show |
H3C3 | ENSG00000287080.2 | transcript | ENST00000612966.3 | protein_coding | 2348 | chr6 | TogoVar | |||||||
H3C3_chr6_26040384_26050869 | 26043035 | C | CGTGATCC others(2202): Show |
upstream_gene_variant | MODIFIER | HG01106.hp2 HG03453.hp2 HG03486.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 5 | 66 | 0.0758 | 2209 | c.-23 others(2220): Show |
H3C3 | ENSG00000287080.2 | transcript | ENST00000612966.3 | protein_coding | 2348 | chr6 | TogoVar | |||||||
H3C3_chr6_26040384_26050869 | 26043035 | C | CGTGATCC others(2202): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00642.hp2 HG00733.hp1 others(9): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0000 | 12 | 73 | 0.1644 | 2209 | c.-23 others(2220): Show |
H3C3 | ENSG00000287080.2 | transcript | ENST00000612966.3 | protein_coding | 2348 | chr6 | TogoVar | |||||||
H3C3_chr6_26040384_26050869 | 26043035 | C | CGTGATCC others(2202): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 HG01981.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 63 | 0.0317 | 2209 | c.-23 others(2220): Show |
H3C3 | ENSG00000287080.2 | transcript | ENST00000612966.3 | protein_coding | 2348 | chr6 | TogoVar | |||||||
H3C3_chr6_26040384_26050869 | 26043035 | C | CGTGATCC others(2202): Show |
upstream_gene_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 62 | 0.0161 | 2209 | c.-23 others(2220): Show |
H3C3 | ENSG00000287080.2 | transcript | ENST00000612966.3 | protein_coding | 2348 | chr6 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62349741 | T | TGGTGGGG others(2202): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0017 | a0017c0021 | a0017c0021t0001 | a0017c0021t0001g0081 | 1 | 31 | 0.0323 | 2209 | c.956 others(2226): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | |||||||
NTM_chr11_131365615_132341822 | 131680807 | G | GTGTCTGT others(2202): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 51 | 0.0196 | 2209 | c.83- others(2228): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TRAPPC12_chr2_3374694_3484565 | 3418126 | T | TGAGGTGA others(2202): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0223 | 1 | 128 | 0.0078 | 2209 | c.116 others(2228): Show |
TRAPPC12 | ENSG00000171853.16 | transcript | ENST00000324266.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TRAPPC12_chr2_3374694_3484565 | 3418126 | T | TGAGGTGA others(2202): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02615.hp2 HG02647.hp1 others(7): Show |
a0001a0002 | a0001c0011a0001c0020a0001c0039others(1): Show | a0001c0011t0001a0001c0020t0001a0001c0039t0001others(1): Show | a0001c0011t0001g0220 a0001c0011t0001g0338 a0001c0020t0001g0208 others(7): Show |
10 | 137 | 0.0730 | 2209 | c.116 others(2228): Show |
TRAPPC12 | ENSG00000171853.16 | transcript | ENST00000324266.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 415429 | A | ATCTGCCT others(2203): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0126 | 1 | 223 | 0.0045 | 2210 | c.441 others(2227): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(2203): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02723.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0002 | a0001c0001t0001g0161 a0001c0006t0002g0138 |
2 | 17 | 0.1176 | 2210 | c.164 others(2229): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 148331789 | G | GTGGATGG others(2203): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 NA19030.hp2 |
a0001a0002 | a0001c0004a0002c0016 | a0001c0004t0003a0002c0016t0004 | a0001c0004t0003g0035 a0001c0004t0003g0036 a0002c0016t0004g0024 |
3 | 6 | 0.5000 | 2210 | c.347 others(2231): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706349 | G | GATAGATA others(2203): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0182 | 1 | 249 | 0.0040 | 2210 | c.228 others(2227): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706349 | G | GATAGATA others(2203): Show |
intron_variant | MODIFIER | NA19006.hp1 NA19086.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0194 a0002c0002t0002g0193 |
2 | 250 | 0.0080 | 2210 | c.228 others(2227): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706349 | G | GATAGATA others(2203): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0002 | a0002c0012 | a0002c0012t0002 | a0002c0012t0002g0215 | 1 | 249 | 0.0040 | 2210 | c.228 others(2227): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706349 | G | GATAGATA others(2203): Show |
upstream_gene_variant | MODIFIER | NA19070.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0285 | 1 | 318 | 0.0031 | 2210 | c.-50 others(2221): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4851 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706349 | G | GATAGATA others(2203): Show |
upstream_gene_variant | MODIFIER | NA19006.hp2 | a0008 | a0008c0013 | a0008c0013t0001 | a0008c0013t0001g0187 | 1 | 318 | 0.0031 | 2210 | c.-50 others(2221): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4851 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706349 | G | GATAGATA others(2203): Show |
upstream_gene_variant | MODIFIER | HG02809.hp2 | a0004 | a0004c0006 | a0004c0006t0017 | a0004c0006t0017g0239 | 1 | 318 | 0.0031 | 2210 | c.-50 others(2221): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4851 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706349 | G | GATAGATA others(2203): Show |
upstream_gene_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0017 | a0001c0017t0002 | a0001c0017t0002g0174 | 1 | 318 | 0.0031 | 2210 | c.-50 others(2221): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4851 | chr4 | TogoVar | |||||||
H2BC3_chr6_26038227_26048713 | 26043035 | C | CGTGATCC others(2203): Show |
downstream_gene_variant | MODIFIER | NA18999.hp2 NA19072.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 67 | 0.0299 | 2210 | c.*24 others(2219): Show |
H2BC3 | ENSG00000276410.4 | transcript | ENST00000615966.2 | protein_coding | 191 | chr6 | TogoVar | |||||||
H2BC3_chr6_26038227_26048713 | 26043035 | C | CGTGATCC others(2203): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 HG01358.hp2 HG02258.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 9 | 74 | 0.1216 | 2210 | c.*24 others(2219): Show |
H2BC3 | ENSG00000276410.4 | transcript | ENST00000615966.2 | protein_coding | 191 | chr6 | TogoVar | |||||||
H2BC3_chr6_26038227_26048713 | 26043035 | C | CGTGATCC others(2203): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 66 | 0.0152 | 2210 | c.*24 others(2219): Show |
H2BC3 | ENSG00000276410.4 | transcript | ENST00000615966.2 | protein_coding | 191 | chr6 | TogoVar | |||||||
H3C3_chr6_26040384_26050869 | 26043035 | C | CGTGATCC others(2203): Show |
upstream_gene_variant | MODIFIER | NA18999.hp2 NA19072.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0000 | 2 | 63 | 0.0317 | 2210 | c.-23 others(2221): Show |
H3C3 | ENSG00000287080.2 | transcript | ENST00000612966.3 | protein_coding | 2348 | chr6 | TogoVar | |||||||
H3C3_chr6_26040384_26050869 | 26043035 | C | CGTGATCC others(2203): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 HG01358.hp1 HG02258.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 9 | 70 | 0.1286 | 2210 | c.-23 others(2221): Show |
H3C3 | ENSG00000287080.2 | transcript | ENST00000612966.3 | protein_coding | 2348 | chr6 | TogoVar | |||||||
H3C3_chr6_26040384_26050869 | 26043035 | C | CGTGATCC others(2203): Show |
upstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0000 | 1 | 62 | 0.0161 | 2210 | c.-23 others(2221): Show |
H3C3 | ENSG00000287080.2 | transcript | ENST00000612966.3 | protein_coding | 2348 | chr6 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 492507 | C | CCCAGGGC others(2203): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0261 | 1 | 126 | 0.0079 | 2210 | c.126 others(2229): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2203): Show |
downstream_gene_variant | MODIFIER | NA18954.hp1 NA19009.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 222 | 0.0090 | 2210 | c.*44 others(2221): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | |||||||
SPAAR_chr9_35904490_35916686 | 35913964 | T | TAGTGTGT others(2203): Show |
downstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 1 | 352 | 0.0028 | 2210 | c.*32 others(2221): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2279 | chr9 | TogoVar | |||||||
TRAPPC12_chr2_3374694_3484565 | 3418126 | T | TGAGGTGA others(2203): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG01109.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0017a0001c0032others(7): Show | a0001c0001t0001a0001c0017t0002a0001c0032t0002others(10): Show | a0001c0001t0001g0298 a0001c0001t0001g0320 a0001c0017t0002g0046 others(19): Show |
23 | 150 | 0.1533 | 2210 | c.116 others(2229): Show |
TRAPPC12 | ENSG00000171853.16 | transcript | ENST00000324266.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TRAPPC12_chr2_3374694_3484565 | 3418126 | T | TGAGGTGA others(2203): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0002 | a0002c0018 | a0002c0018t0001 | a0002c0018t0001g0216 | 1 | 128 | 0.0078 | 2210 | c.116 others(2229): Show |
TRAPPC12 | ENSG00000171853.16 | transcript | ENST00000324266.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TRAPPC12_chr2_3374694_3484565 | 3418126 | T | TGAGGTGA others(2203): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02630.hp1 |
a0002 | a0002c0007a0002c0027 | a0002c0007t0001a0002c0027t0001 | a0002c0007t0001g0023 a0002c0027t0001g0025 |
2 | 129 | 0.0155 | 2210 | c.116 others(2229): Show |
TRAPPC12 | ENSG00000171853.16 | transcript | ENST00000324266.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TRAPPC12_chr2_3374694_3484565 | 3418126 | T | TGAGGTGA others(2203): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02258.hp2 HG02451.hp2 others(4): Show |
a0001 | a0001c0011a0001c0015a0001c0026 | a0001c0011t0001a0001c0015t0001a0001c0015t0002others(1): Show | a0001c0011t0001g0247 a0001c0015t0001g0248 a0001c0015t0002g0182 others(4): Show |
7 | 134 | 0.0522 | 2210 | c.116 others(2229): Show |
TRAPPC12 | ENSG00000171853.16 | transcript | ENST00000324266.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VCX3A_chrX_6528618_6540118 | 6533515 | T | TCCCCACA others(2203): Show |
downstream_gene_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 61 | 0.0164 | 2210 | c.*22 others(2219): Show |
VCX3A | ENSG00000169059.13 | transcript | ENST00000381089.7 | protein_coding | 102 | chrX | TogoVar | |||||||
ARFRP1_chr20_63693647_63712976 | 63693663 | T | TCCACCTC others(2204): Show |
downstream_gene_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 247 | 0.0040 | 2211 | c.*67 others(2222): Show |
ARFRP1 | ENSG00000101246.20 | transcript | ENST00000622789.5 | protein_coding | 4983 | chr20 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132914028 | C | CCCCGAGG others(2204): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0051 | a0051c0089 | a0051c0089t0001 | a0051c0089t0001g0117 | 1 | 171 | 0.0058 | 2211 | c.212 others(2228): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 17/57 | chr10 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706449 | C | CATAGATA others(2204): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0247 | 1 | 232 | 0.0043 | 2211 | c.228 others(2228): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706449 | C | CATAGATA others(2204): Show |
upstream_gene_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0029 | 1 | 288 | 0.0035 | 2211 | c.-49 others(2222): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4751 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706453 | C | CATAGATA others(2204): Show |
upstream_gene_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0017 | a0001c0017t0002 | a0001c0017t0002g0078 | 1 | 289 | 0.0035 | 2211 | c.-49 others(2222): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4747 | chr4 | TogoVar | |||||||
GPIHBP1_chr8_143208218_143222170 | 143218360 | C | CACCACCC others(2204): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 2 | 0.5000 | 2211 | c.*28 others(2222): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1191 | chr8 | TogoVar | |||||||
H2BC3_chr6_26038227_26048713 | 26043035 | C | CGTGATCC others(2204): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 66 | 0.0152 | 2211 | c.*24 others(2220): Show |
H2BC3 | ENSG00000276410.4 | transcript | ENST00000615966.2 | protein_coding | 191 | chr6 | TogoVar | |||||||
H3C3_chr6_26040384_26050869 | 26043035 | C | CGTGATCC others(2204): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 62 | 0.0161 | 2211 | c.-23 others(2222): Show |
H3C3 | ENSG00000287080.2 | transcript | ENST00000612966.3 | protein_coding | 2348 | chr6 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10399253 | C | CCACCACC others(2204): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0099 | 1 | 283 | 0.0035 | 2211 | c.-25 others(2228): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 256813 | A | GTCCCTAG others(2204): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0096 | 1 | 91 | 0.0110 | 2211 | c.439 others(2228): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
SMOC2_chr6_168436184_168672992 | 168595092 | C | CGGGCATC others(2204): Show |
intron_variant | MODIFIER | HG01167.hp1 HG03209.hp2 |
a0001 | a0001c0002a0001c0011 | a0001c0002t0002a0001c0011t0006 | a0001c0002t0002g0043 a0001c0011t0006g0167 |
2 | 113 | 0.0177 | 2211 | c.638 others(2228): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TRAPPC12_chr2_3374694_3484565 | 3418126 | T | TGAGGTGA others(2204): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0136 | 1 | 128 | 0.0078 | 2211 | c.116 others(2230): Show |
TRAPPC12 | ENSG00000171853.16 | transcript | ENST00000324266.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TRAPPC12_chr2_3374694_3484565 | 3418126 | T | TGAGGTGA others(2204): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00544.hp2 others(61): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0004a0001c0011others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(27): Show | a0001c0001t0001g0033 a0001c0001t0001g0331 a0001c0001t0002g0062 others(60): Show |
64 | 191 | 0.3351 | 2211 | c.116 others(2230): Show |
TRAPPC12 | ENSG00000171853.16 | transcript | ENST00000324266.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TRAPPC12_chr2_3374694_3484565 | 3418126 | T | TGAGGTGA others(2204): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02630.hp2 HG03195.hp2 |
a0001 | a0001c0029 | a0001c0029t0001 | a0001c0029t0001g0050 a0001c0029t0001g0054 a0001c0029t0001g0056 |
3 | 130 | 0.0231 | 2211 | c.116 others(2230): Show |
TRAPPC12 | ENSG00000171853.16 | transcript | ENST00000324266.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |