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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(5970): Show |
downstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0119 | 1 | 120 | 0.0083 | 5977 | c.*89 others(5988): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(5970): Show |
downstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0007 | 1 | 120 | 0.0083 | 5977 | c.*89 others(5988): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236714890 | T | TACCACTG others(5971): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0307 | 1 | 344 | 0.0029 | 5978 | c.127 others(5995): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(5971): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 370 | 0.0027 | 5978 | c.891 others(5993): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(5971): Show |
downstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0108 | 1 | 120 | 0.0083 | 5978 | c.*89 others(5989): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(5971): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 HG02818.hp1 HG02895.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013 | a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0032 others(4): Show |
7 | 120 | 0.0583 | 5978 | c.*89 others(5989): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(5972): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG02258.hp1 HG02258.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0007 | a0001c0001t0002g0019 a0001c0001t0002g0025 a0001c0001t0002g0026 others(7): Show |
10 | 120 | 0.0833 | 5979 | c.*89 others(5990): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(5973): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035 | 1 | 120 | 0.0083 | 5980 | c.*89 others(5991): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
PTP4A3_chr8_141387021_141437454 | 141415691 | A | AGAGGGGT others(5976): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0294 | 1 | 323 | 0.0031 | 5983 | c.-85 others(6002): Show |
PTP4A3 | ENSG00000184489.13 | transcript | ENST00000521578.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PTP4A3_chr8_141387021_141437454 | 141415691 | A | AGAGGGGT others(5976): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0064 | 1 | 323 | 0.0031 | 5983 | c.-85 others(6002): Show |
PTP4A3 | ENSG00000184489.13 | transcript | ENST00000521578.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ART1_chr11_3640128_3669416 | 3654782 | T | TAAATTCC others(5977): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0263 | 1 | 394 | 0.0025 | 5984 | c.-52 others(6001): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PTP4A3_chr8_141387021_141437454 | 141415691 | A | AGAGGGGT others(5977): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 323 | 0.0031 | 5984 | c.-85 others(6003): Show |
PTP4A3 | ENSG00000184489.13 | transcript | ENST00000521578.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PTP4A3_chr8_141387021_141437454 | 141415691 | A | AGAGGGGT others(5977): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0036 | 1 | 323 | 0.0031 | 5984 | c.-85 others(6003): Show |
PTP4A3 | ENSG00000184489.13 | transcript | ENST00000521578.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PTP4A3_chr8_141387021_141437454 | 141415691 | A | AGAGGGGT others(5977): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02486.hp1 HG02976.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0023a0001c0001t0027 | a0001c0001t0008g0026 a0001c0001t0008g0032 a0001c0001t0023g0025 others(1): Show |
4 | 323 | 0.0124 | 5984 | c.-85 others(6003): Show |
PTP4A3 | ENSG00000184489.13 | transcript | ENST00000521578.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PTP4A3_chr8_141387021_141437454 | 141415691 | A | AGAGGGGT others(5977): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0021 | 1 | 323 | 0.0031 | 5984 | c.-85 others(6003): Show |
PTP4A3 | ENSG00000184489.13 | transcript | ENST00000521578.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DENND11_chr7_141651728_141707166 | 141703339 | T | TCTACCTT others(5978): Show |
upstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 345 | 0.0029 | 5985 | c.-11 others(5996): Show |
DENND11 | ENSG00000257093.7 | transcript | ENST00000536163.6 | protein_coding | 1174 | chr7 | TogoVar | |||||||
DENND11_chr7_141651728_141707166 | 141703339 | T | TCTACCTT others(5978): Show |
upstream_gene_variant | MODIFIER | HG02723.hp1 HG02970.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0046 a0001c0001t0008g0047 a0001c0001t0008g0048 |
3 | 345 | 0.0087 | 5985 | c.-11 others(5996): Show |
DENND11 | ENSG00000257093.7 | transcript | ENST00000536163.6 | protein_coding | 1174 | chr7 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586203 | A | AGGCAGTG others(5978): Show |
splice_region_variant others(1): Show |
LOW | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0171 | 1 | 308 | 0.0033 | 5985 | c.157 others(5998): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PTP4A3_chr8_141387021_141437454 | 141415691 | A | AGAGGGGT others(5978): Show |
intron_variant | MODIFIER | HG01891.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0024 a0001c0001t0008g0031 |
2 | 323 | 0.0062 | 5985 | c.-85 others(6004): Show |
PTP4A3 | ENSG00000184489.13 | transcript | ENST00000521578.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PTP4A3_chr8_141387021_141437454 | 141415691 | A | AGAGGGGT others(5978): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0034 | 1 | 323 | 0.0031 | 5985 | c.-85 others(6004): Show |
PTP4A3 | ENSG00000184489.13 | transcript | ENST00000521578.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARFRP1_chr20_63693647_63712976 | 63693747 | A | TCCACCAC others(5979): Show |
downstream_gene_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0045 | 1 | 296 | 0.0034 | 5986 | c.*66 others(5997): Show |
ARFRP1 | ENSG00000101246.20 | transcript | ENST00000622789.5 | protein_coding | 4900 | chr20 | TogoVar | |||||||
PTP4A3_chr8_141387021_141437454 | 141415691 | A | AGAGGGGT others(5979): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0035 | 1 | 323 | 0.0031 | 5986 | c.-85 others(6005): Show |
PTP4A3 | ENSG00000184489.13 | transcript | ENST00000521578.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PTP4A3_chr8_141387021_141437454 | 141415693 | A | AGGGGTAG others(5979): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 323 | 0.0031 | 5986 | c.-85 others(6005): Show |
PTP4A3 | ENSG00000184489.13 | transcript | ENST00000521578.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SLC12A7_chr5_1045384_1117063 | 1072941 | G | GAGCCCCC others(5980): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0002 | a0002c0025 | a0002c0025t0004 | a0002c0025t0004g0061 | 1 | 118 | 0.0085 | 5987 | c.224 others(6004): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
DENND11_chr7_141651728_141707166 | 141703339 | T | TCTACCTT others(5981): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 HG02109.hp2 |
a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0268 a0001c0002t0015g0269 |
2 | 345 | 0.0058 | 5988 | c.-11 others(5999): Show |
DENND11 | ENSG00000257093.7 | transcript | ENST00000536163.6 | protein_coding | 1174 | chr7 | TogoVar | |||||||
DENND11_chr7_141651728_141707166 | 141703339 | T | TCTACCTT others(5981): Show |
upstream_gene_variant | MODIFIER | NA18949.hp1 NA19079.hp2 |
a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0041 a0001c0002t0017g0042 |
2 | 345 | 0.0058 | 5988 | c.-11 others(5999): Show |
DENND11 | ENSG00000257093.7 | transcript | ENST00000536163.6 | protein_coding | 1174 | chr7 | TogoVar | |||||||
DENND11_chr7_141651728_141707166 | 141703339 | T | TCTACCTT others(5981): Show |
upstream_gene_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0282 | 1 | 345 | 0.0029 | 5988 | c.-11 others(5999): Show |
DENND11 | ENSG00000257093.7 | transcript | ENST00000536163.6 | protein_coding | 1174 | chr7 | TogoVar | |||||||
DENND11_chr7_141651728_141707166 | 141703339 | T | TCTACCTT others(5982): Show |
upstream_gene_variant | MODIFIER | HG00642.hp2 HG02258.hp1 NA18522.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 a0001c0001t0001g0283 a0001c0001t0001g0284 others(1): Show |
5 | 345 | 0.0145 | 5989 | c.-11 others(6000): Show |
DENND11 | ENSG00000257093.7 | transcript | ENST00000536163.6 | protein_coding | 1174 | chr7 | TogoVar | |||||||
DENND11_chr7_141651728_141707166 | 141703339 | T | TCTACCTT others(5982): Show |
upstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0270 | 1 | 345 | 0.0029 | 5989 | c.-11 others(6000): Show |
DENND11 | ENSG00000257093.7 | transcript | ENST00000536163.6 | protein_coding | 1174 | chr7 | TogoVar | |||||||
DENND11_chr7_141651728_141707166 | 141703339 | T | TCTACCTT others(5982): Show |
upstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0266 | 1 | 345 | 0.0029 | 5989 | c.-11 others(6000): Show |
DENND11 | ENSG00000257093.7 | transcript | ENST00000536163.6 | protein_coding | 1174 | chr7 | TogoVar | |||||||
DENND11_chr7_141651728_141707166 | 141703339 | T | TCTACCTT others(5982): Show |
upstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0271 | 1 | 345 | 0.0029 | 5989 | c.-11 others(6000): Show |
DENND11 | ENSG00000257093.7 | transcript | ENST00000536163.6 | protein_coding | 1174 | chr7 | TogoVar | |||||||
DENND11_chr7_141651728_141707166 | 141703339 | T | TCTACCTT others(5982): Show |
upstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0008 | a0001c0008t0033 | a0001c0008t0033g0043 | 1 | 345 | 0.0029 | 5989 | c.-11 others(6000): Show |
DENND11 | ENSG00000257093.7 | transcript | ENST00000536163.6 | protein_coding | 1174 | chr7 | TogoVar | |||||||
DENND11_chr7_141651728_141707166 | 141703339 | T | TCTACCTT others(5982): Show |
upstream_gene_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0281 | 1 | 345 | 0.0029 | 5989 | c.-11 others(6000): Show |
DENND11 | ENSG00000257093.7 | transcript | ENST00000536163.6 | protein_coding | 1174 | chr7 | TogoVar | |||||||
DENND11_chr7_141651728_141707166 | 141703339 | T | TCTACCTT others(5983): Show |
upstream_gene_variant | MODIFIER | HG01261.hp2 HG02896.hp2 HG03225.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0014 | a0001c0001t0011g0009 a0001c0001t0014g0267 |
4 | 345 | 0.0116 | 5990 | c.-11 others(6001): Show |
DENND11 | ENSG00000257093.7 | transcript | ENST00000536163.6 | protein_coding | 1174 | chr7 | TogoVar | |||||||
DENND11_chr7_141651728_141707166 | 141703339 | T | TCTACCTT others(5983): Show |
upstream_gene_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 345 | 0.0029 | 5990 | c.-11 others(6001): Show |
DENND11 | ENSG00000257093.7 | transcript | ENST00000536163.6 | protein_coding | 1174 | chr7 | TogoVar | |||||||
DENND11_chr7_141651728_141707166 | 141703339 | T | TCTACCTT others(5983): Show |
upstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0050 | 1 | 345 | 0.0029 | 5990 | c.-11 others(6001): Show |
DENND11 | ENSG00000257093.7 | transcript | ENST00000536163.6 | protein_coding | 1174 | chr7 | TogoVar | |||||||
DENND11_chr7_141651728_141707166 | 141703339 | T | TCTACCTT others(5983): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG02015.hp1 HG02155.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0003 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0002g0272 others(9): Show |
17 | 345 | 0.0493 | 5990 | c.-11 others(6001): Show |
DENND11 | ENSG00000257093.7 | transcript | ENST00000536163.6 | protein_coding | 1174 | chr7 | TogoVar | |||||||
DENND11_chr7_141651728_141707166 | 141703339 | T | TCTACCTT others(5983): Show |
upstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0276 | 1 | 345 | 0.0029 | 5990 | c.-11 others(6001): Show |
DENND11 | ENSG00000257093.7 | transcript | ENST00000536163.6 | protein_coding | 1174 | chr7 | TogoVar | |||||||
DENND11_chr7_141651728_141707166 | 141703339 | T | TCTACCTT others(5983): Show |
upstream_gene_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0277 | 1 | 345 | 0.0029 | 5990 | c.-11 others(6001): Show |
DENND11 | ENSG00000257093.7 | transcript | ENST00000536163.6 | protein_coding | 1174 | chr7 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137716559 | T | TTGTGGTG others(5984): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0001 | 1 | 170 | 0.0059 | 5991 | c.86- others(6002): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | chr9 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31432129 | T | TAGGATGG others(5987): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0003 | a0003c0007 | a0003c0007t0002 | a0003c0007t0002g0146 | 1 | 376 | 0.0027 | 5994 | c.101 others(6011): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137716460 | T | TGGGGGAG others(5988): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0008 | 1 | 170 | 0.0059 | 5995 | c.86- others(6008): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(5989): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0006 | a0006c0057 | a0006c0057t0001 | a0006c0057t0001g0101 | 1 | 282 | 0.0036 | 5996 | c.299 others(6011): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
CACNA1C_chr12_2047987_2702950 | 2256047 | C | CTTTACAA others(5993): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0033 | a0001c0033t0020 | a0001c0033t0020g0070 | 1 | 104 | 0.0096 | 6000 | c.477 others(6021): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45500995 | G | GGTGTGTG others(5993): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0112 | 1 | 292 | 0.0034 | 6000 | c.268 others(6019): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137328414 | A | AAAAACAA others(5993): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0022 | a0022c0030 | a0022c0030t0001 | a0022c0030t0001g0015 | 1 | 82 | 0.0122 | 6000 | c.199 others(6019): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586400 | G | GCAGTGGG others(5994): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0226 | 1 | 308 | 0.0033 | 6001 | c.157 others(6018): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(5995): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0067 | a0067c0145 | a0067c0145t0001 | a0067c0145t0001g0184 | 1 | 282 | 0.0036 | 6002 | c.299 others(6017): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
CCDC138_chr2_108781771_108881578 | 108834215 | T | TTTTTTTT others(5997): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02572.hp1 HG02886.hp2 others(3): Show |
a0001 | a0001c0004a0001c0012 | a0001c0004t0001a0001c0012t0001 | a0001c0004t0001g0011 a0001c0004t0001g0012 a0001c0004t0001g0013 others(3): Show |
6 | 220 | 0.0273 | 6004 | c.120 others(6023): Show |
CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CCDC138_chr2_108781771_108881578 | 108834215 | T | TTTTTTTT others(5998): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0009 | 1 | 220 | 0.0046 | 6005 | c.120 others(6024): Show |
CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |