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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDGFA_chr7_492258_524846 | 494645 | G | GGGGGACG others(2201): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0118 | a0001c0001t0118g0234 | 1 | 302 | 0.0033 | 2208 | c.*39 others(2219): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2612 | chr7 | TogoVar | ||||||
RIMBP2_chr12_130391133_130721299 | 130646382 | A | ACCACCTC others(2201): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0142 | 1 | 180 | 0.0056 | 2208 | c.-35 others(2229): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | ||||||
SPAAR_chr9_35904490_35916686 | 35913964 | T | TAGTGTGT others(2201): Show |
downstream_gene_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0003 | 1 | 420 | 0.0024 | 2208 | c.*32 others(2219): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2279 | chr9 | TogoVar | ||||||
SYNE3_chr14_95402266_95521650 | 95419899 | G | GGTGGTGG others(2201): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0021 | a0001c0021t0102 | a0001c0021t0102g0090 | 1 | 384 | 0.0026 | 2208 | c.272 others(2227): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 17/17 | chr14 | TogoVar | ||||||
TRAPPC12_chr2_3374694_3484565 | 3418126 | T | TGAGGTGA others(2201): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0181 | 1 | 344 | 0.0029 | 2208 | c.116 others(2227): Show |
TRAPPC12 | ENSG00000171853.16 | transcript | ENST00000324266.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
WWC2_chr4_183094257_183325777 | 183319862 | C | CAGCAGTC others(2201): Show |
3_prime_UTR_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0047 | 1 | 242 | 0.0041 | 2208 | c.*46 others(2219): Show |
WWC2 | ENSG00000151718.16 | transcript | ENST00000403733.8 | protein_coding | 23/23 | 4666 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||
ATP10A_chr15_25673712_25868327 | 25758753 | A | ATTCCGAC others(2202): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 300 | 0.0033 | 2209 | c.654 others(2228): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61329441 | T | TCCCCTCG others(2202): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0027 | 1 | 106 | 0.0094 | 2209 | c.169 others(2228): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CDH4_chr20_61247261_61945617 | 61329441 | T | TCCCCTCG others(2202): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0055 | 1 | 106 | 0.0094 | 2209 | c.169 others(2228): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CDH4_chr20_61247261_61945617 | 61329441 | T | TCCCCTCG others(2202): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03540.hp2 |
a0002 | a0002c0002a0002c0004 | a0002c0002t0004a0002c0004t0003 | a0002c0002t0004g0068a0002c0004t0003g0034 | 2 | 106 | 0.0189 | 2209 | c.169 others(2228): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CDH4_chr20_61247261_61945617 | 61329441 | T | TTGCCTCG others(2202): Show |
intron_variant | MODIFIER | HG02109.hp2 NA19030.hp2 |
a0001a0002 | a0001c0003a0002c0008 | a0001c0003t0037a0002c0008t0004 | a0001c0003t0037g0023a0002c0008t0004g0041 | 2 | 106 | 0.0189 | 2209 | c.169 others(2228): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | chr20 | TogoVar | ||||||
H2BC3_chr6_26038227_26048713 | 26043035 | C | CGTGATCC others(2202): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 419 | 0.0024 | 2209 | c.*24 others(2218): Show |
H2BC3 | ENSG00000276410.4 | transcript | ENST00000615966.2 | protein_coding | 191 | chr6 | TogoVar | ||||||
H2BC3_chr6_26038227_26048713 | 26043035 | C | CGTGATCC others(2202): Show |
downstream_gene_variant | MODIFIER | HG02630.hp1 NA18945.hp1 NA18955.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 10 | 419 | 0.0239 | 2209 | c.*24 others(2218): Show |
H2BC3 | ENSG00000276410.4 | transcript | ENST00000615966.2 | protein_coding | 191 | chr6 | TogoVar | ||||||
H2BC3_chr6_26038227_26048713 | 26043035 | C | CGTGATCC others(2202): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 419 | 0.0024 | 2209 | c.*24 others(2218): Show |
H2BC3 | ENSG00000276410.4 | transcript | ENST00000615966.2 | protein_coding | 191 | chr6 | TogoVar | ||||||
H2BC3_chr6_26038227_26048713 | 26043035 | C | CGTGATCC others(2202): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 HG02109.hp2 HG02647.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 8 | 419 | 0.0191 | 2209 | c.*24 others(2218): Show |
H2BC3 | ENSG00000276410.4 | transcript | ENST00000615966.2 | protein_coding | 191 | chr6 | TogoVar | ||||||
H2BC3_chr6_26038227_26048713 | 26043035 | C | CGTGATCC others(2202): Show |
downstream_gene_variant | MODIFIER | HG01106.hp1 HG03453.hp2 HG03486.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 5 | 419 | 0.0119 | 2209 | c.*24 others(2218): Show |
H2BC3 | ENSG00000276410.4 | transcript | ENST00000615966.2 | protein_coding | 191 | chr6 | TogoVar | ||||||
H2BC3_chr6_26038227_26048713 | 26043035 | C | CGTGATCC others(2202): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG00733.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 12 | 419 | 0.0286 | 2209 | c.*24 others(2218): Show |
H2BC3 | ENSG00000276410.4 | transcript | ENST00000615966.2 | protein_coding | 191 | chr6 | TogoVar | ||||||
H2BC3_chr6_26038227_26048713 | 26043035 | C | CGTGATCC others(2202): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 HG01981.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 419 | 0.0048 | 2209 | c.*24 others(2218): Show |
H2BC3 | ENSG00000276410.4 | transcript | ENST00000615966.2 | protein_coding | 191 | chr6 | TogoVar | ||||||
H2BC3_chr6_26038227_26048713 | 26043035 | C | CGTGATCC others(2202): Show |
downstream_gene_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 419 | 0.0024 | 2209 | c.*24 others(2218): Show |
H2BC3 | ENSG00000276410.4 | transcript | ENST00000615966.2 | protein_coding | 191 | chr6 | TogoVar | ||||||
H3C3_chr6_26040384_26050869 | 26043035 | C | CGTGATCC others(2202): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0000 | 1 | 421 | 0.0024 | 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 | 421 | 0.0238 | 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 | 421 | 0.0024 | 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 | 421 | 0.0190 | 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 | 421 | 0.0119 | 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 | 421 | 0.0285 | 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 | 421 | 0.0048 | 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 | 421 | 0.0024 | 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 | a0012 | a0012c0021 | a0012c0021t0001 | a0012c0021t0001g0082 | 1 | 186 | 0.0054 | 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 | 86 | 0.0116 | 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 | a0002c0002t0001g0224 | 1 | 344 | 0.0029 | 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 | a0001c0011t0001g0221a0001c0011t0001g0339a0001c0020t0001g0209others(7): Show | 10 | 344 | 0.0291 | 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 | 268 | 0.0037 | 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 | a0001c0001t0001g0156a0001c0006t0002g0133 | 2 | 175 | 0.0114 | 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 | a0001c0004t0003g0035a0001c0004t0003g0036a0002c0016t0004g0024 | 3 | 40 | 0.0750 | 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 | a0002c0002t0002g0183 | 1 | 292 | 0.0034 | 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 | a0002c0002t0001g0195a0002c0002t0002g0194 | 2 | 292 | 0.0069 | 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 | a0002c0012t0002g0216 | 1 | 292 | 0.0034 | 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 | 369 | 0.0027 | 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 | 369 | 0.0027 | 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 | a0004c0006t0018 | a0004c0006t0018g0239 | 1 | 369 | 0.0027 | 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 | 369 | 0.0027 | 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 | 419 | 0.0048 | 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 | 419 | 0.0215 | 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 | 419 | 0.0024 | 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 | 421 | 0.0048 | 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 | 421 | 0.0214 | 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 | 421 | 0.0024 | 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 | a0001c0002t0009g0253 | 1 | 295 | 0.0034 | 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 | 375 | 0.0053 | 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 | 420 | 0.0024 | 2210 | c.*32 others(2221): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2279 | chr9 | TogoVar |