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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2212): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0026 | 1 | 294 | 0.0034 | 2219 | c.515 others(2236): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2212): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0002 | a0002c0016 | a0002c0016t0001 | a0002c0016t0001g0076 | 1 | 294 | 0.0034 | 2219 | c.515 others(2236): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(2212): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0002 | a0002c0082 | a0002c0082t0001 | a0002c0082t0001g0230 | 1 | 282 | 0.0036 | 2219 | c.299 others(2234): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88731928 | C | CGGGGCGT others(2212): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0078 | a0078c0114 | a0078c0114t0001 | a0078c0114t0001g0233 | 1 | 282 | 0.0036 | 2219 | c.299 others(2234): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | ||||||
PPP4R4_chr14_94169322_94284734 | 94248977 | T | TTGTTACA others(2212): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0129 | 1 | 307 | 0.0033 | 2219 | c.161 others(2238): Show |
PPP4R4 | ENSG00000119698.12 | transcript | ENST00000304338.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SMYD3_chr1_245744347_246512279 | 246324972 | A | AGGAGAAG others(2212): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0092 | 1 | 150 | 0.0067 | 2219 | c.531 others(2236): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
VNN1_chr6_132675849_132719055 | 132706868 | C | CAAAAGAA others(2212): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0134 | 1 | 418 | 0.0024 | 2219 | c.341 others(2236): Show |
VNN1 | ENSG00000112299.8 | transcript | ENST00000367928.5 | protein_coding | 2/6 | chr6 | TogoVar | ||||||
VNN1_chr6_132675849_132719055 | 132706868 | C | CAAAAGAA others(2212): Show |
intron_variant | MODIFIER | NA18997.hp2 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0130 | 1 | 418 | 0.0024 | 2219 | c.341 others(2236): Show |
VNN1 | ENSG00000112299.8 | transcript | ENST00000367928.5 | protein_coding | 2/6 | chr6 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706349 | G | GATAGATA others(2213): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0011 | a0001c0011t0002 | a0001c0011t0002g0163 | 1 | 292 | 0.0034 | 2220 | c.228 others(2237): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706349 | G | GATAGATA others(2213): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0011 | a0001c0011t0002 | a0001c0011t0002g0162 | 1 | 292 | 0.0034 | 2220 | c.228 others(2237): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706349 | G | GATAGATA others(2213): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02809.hp2 |
a0001a0002 | a0001c0011a0002c0053 | a0001c0011t0002a0002c0053t0002 | a0001c0011t0002g0160a0002c0053t0002g0159 | 2 | 292 | 0.0069 | 2220 | c.228 others(2237): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706349 | G | GATAGATA others(2213): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 | a0009 | a0009c0032 | a0009c0032t0001 | a0009c0032t0001g0193 | 1 | 369 | 0.0027 | 2220 | c.-50 others(2231): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4851 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706349 | G | GATAGATA others(2213): Show |
upstream_gene_variant | MODIFIER | HG02280.hp2 | a0019 | a0019c0061 | a0019c0061t0004 | a0019c0061t0004g0197 | 1 | 369 | 0.0027 | 2220 | c.-50 others(2231): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4851 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706349 | G | GATAGATA others(2213): Show |
upstream_gene_variant | MODIFIER | HG01167.hp2 HG02809.hp1 |
a0001a0009 | a0001c0071a0009c0022 | a0001c0071t0017a0009c0022t0001 | a0001c0071t0017g0194a0009c0022t0001g0195 | 2 | 369 | 0.0054 | 2220 | c.-50 others(2231): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4851 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706349 | G | GATAGATA others(2213): Show |
upstream_gene_variant | MODIFIER | HG03041.hp1 | a0009 | a0009c0032 | a0009c0032t0047 | a0009c0032t0047g0173 | 1 | 369 | 0.0027 | 2220 | c.-50 others(2231): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4851 | chr4 | TogoVar | ||||||
KANK1_chr9_499695_751103 | 514123 | T | TCTTCCCT others(2213): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0007 | a0007c0025 | a0007c0025t0002 | a0007c0025t0002g0230 | 1 | 254 | 0.0039 | 2220 | c.-84 others(2237): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(2213): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 272 | 0.0037 | 2220 | c.-12 others(2241): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(2213): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00741.hp2 HG01109.hp2 others(1): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0006 | a0001c0001t0002a0001c0002t0001a0003c0006t0008 | a0001c0001t0002g0192a0001c0001t0002g0260a0001c0002t0001g0026others(1): Show | 4 | 272 | 0.0147 | 2220 | c.-12 others(2241): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(2213): Show |
intron_variant | MODIFIER | HG02083.hp1 HG02132.hp2 NA18969.hp2 others(2): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0002g0157a0001c0002t0001g0158a0001c0002t0002g0156others(2): Show | 5 | 272 | 0.0184 | 2220 | c.-12 others(2241): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(2213): Show |
intron_variant | MODIFIER | HG03831.hp2 NA18948.hp2 NA19004.hp1 others(1): Show |
a0001 | a0001c0002a0001c0003a0001c0007 | a0001c0002t0017a0001c0003t0001a0001c0007t0001 | a0001c0002t0017g0108a0001c0003t0001g0109a0001c0007t0001g0107others(1): Show | 4 | 272 | 0.0147 | 2220 | c.-12 others(2241): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(2213): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01167.hp1 NA18747.hp1 |
a0001a0008 | a0001c0001a0008c0019 | a0001c0001t0001a0001c0001t0009a0008c0019t0003 | a0001c0001t0001g0179a0001c0001t0009g0015a0008c0019t0003g0180 | 3 | 272 | 0.0110 | 2220 | c.-12 others(2241): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(2213): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 272 | 0.0037 | 2220 | c.-12 others(2241): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(2213): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 272 | 0.0037 | 2220 | c.-12 others(2241): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
YBEY_chr21_46281342_46302751 | 46294184 | A | ACAAGTTA others(2213): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 404 | 0.0025 | 2220 | c.340 others(2237): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
YBEY_chr21_46281342_46302751 | 46294184 | A | GCAAGTTA others(2213): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0357 | 1 | 404 | 0.0025 | 2220 | c.340 others(2237): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | chr21 | TogoVar | ||||||
C2orf80_chr2_208160347_208195030 | 208176941 | C | CCGTATAC others(2214): Show |
intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 342 | 0.0029 | 2221 | c.366 others(2238): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178585563 | G | GGGGGTAA others(2214): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0054 | 1 | 236 | 0.0042 | 2221 | c.294 others(2238): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | ||||||
ELP4_chr11_31504767_31795324 | 31547680 | C | CCAAAAAA others(2214): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0220 | 1 | 270 | 0.0037 | 2221 | c.381 others(2238): Show |
ELP4 | ENSG00000109911.19 | transcript | ENST00000640961.2 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PAK2_chr3_196734857_196837647 | 196811286 | C | CCCTTCCT others(2214): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0151 | 1 | 178 | 0.0056 | 2221 | c.773 others(2236): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PAM16_chr16_4335251_4356321 | 4344644 | A | AGGGGGTT others(2214): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0214 | 1 | 367 | 0.0027 | 2221 | c.4-1 others(2234): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | ||||||
PCID2_chr13_113172536_113213669 | 113176538 | A | AATTGCCC others(2214): Show |
downstream_gene_variant | MODIFIER | HG02886.hp2 HG03471.hp2 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0186a0001c0002t0004g0187 | 2 | 414 | 0.0048 | 2221 | c.*16 others(2232): Show |
PCID2 | ENSG00000126226.22 | transcript | ENST00000337344.9 | protein_coding | 997 | chr13 | TogoVar | ||||||
PPP4R4_chr14_94169322_94284734 | 94248977 | T | TTGTTACA others(2214): Show |
intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0128 | 1 | 307 | 0.0033 | 2221 | c.161 others(2240): Show |
PPP4R4 | ENSG00000119698.12 | transcript | ENST00000304338.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PROZ_chr13_113153648_113177386 | 113176538 | A | AATTGCCC others(2214): Show |
downstream_gene_variant | MODIFIER | HG02886.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0199a0001c0001t0002g0201 | 2 | 378 | 0.0053 | 2221 | c.*44 others(2232): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 4153 | chr13 | TogoVar | ||||||
CCDC6_chr10_59783747_59911556 | 59882004 | G | GGGGGGAG others(2215): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0096 | 1 | 288 | 0.0035 | 2222 | c.303 others(2241): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(2215): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0135 | 1 | 364 | 0.0028 | 2222 | c.445 others(2237): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
EVC2_chr4_5557439_5713559 | 5706313 | G | GATAGATA others(2215): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0007 | a0007c0078 | a0007c0078t0002 | a0007c0078t0002g0219 | 1 | 292 | 0.0034 | 2222 | c.228 others(2239): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706313 | G | GATAGATA others(2215): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0007 | a0007c0080 | a0007c0080t0002 | a0007c0080t0002g0220 | 1 | 292 | 0.0034 | 2222 | c.228 others(2239): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706349 | G | GATAGATA others(2215): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0214 | 1 | 292 | 0.0034 | 2222 | c.228 others(2239): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706433 | G | GATAGACA others(2215): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0002 | a0002c0054 | a0002c0054t0001 | a0002c0054t0001g0166 | 1 | 292 | 0.0034 | 2222 | c.228 others(2239): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706437 | G | GACAGATA others(2215): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0212 | 1 | 292 | 0.0034 | 2222 | c.228 others(2239): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706313 | G | GATAGATA others(2215): Show |
upstream_gene_variant | MODIFIER | HG03225.hp2 | a0016 | a0016c0097 | a0016c0097t0045 | a0016c0097t0045g0204 | 1 | 369 | 0.0027 | 2222 | c.-50 others(2233): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4887 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706313 | G | GATAGATA others(2215): Show |
upstream_gene_variant | MODIFIER | NA20129.hp1 | a0011 | a0011c0035 | a0011c0035t0002 | a0011c0035t0002g0203 | 1 | 369 | 0.0027 | 2222 | c.-50 others(2233): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4887 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706349 | G | GATAGATA others(2215): Show |
upstream_gene_variant | MODIFIER | HG02647.hp2 | a0006 | a0006c0010 | a0006c0010t0009 | a0006c0010t0009g0318 | 1 | 369 | 0.0027 | 2222 | c.-50 others(2233): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4851 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706349 | G | GATAGATA others(2215): Show |
upstream_gene_variant | MODIFIER | NA18955.hp2 | a0003 | a0003c0001 | a0003c0001t0002 | a0003c0001t0002g0277 | 1 | 369 | 0.0027 | 2222 | c.-50 others(2233): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4851 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706349 | G | GATAGATA others(2215): Show |
upstream_gene_variant | MODIFIER | NA19054.hp2 | a0003 | a0003c0001 | a0003c0001t0002 | a0003c0001t0002g0289 | 1 | 369 | 0.0027 | 2222 | c.-50 others(2233): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4851 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706349 | G | GATAGATA others(2215): Show |
upstream_gene_variant | MODIFIER | NA19066.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0243 | 1 | 369 | 0.0027 | 2222 | c.-50 others(2233): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4851 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706433 | G | GATAGACA others(2215): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0009 | a0001c0009t0006 | a0001c0009t0006g0200 | 1 | 369 | 0.0027 | 2222 | c.-49 others(2233): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4767 | chr4 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(2215): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0054 | a0054c0045 | a0054c0045t0001 | a0054c0045t0001g0024 | 1 | 186 | 0.0054 | 2222 | c.723 others(2239): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2215): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0033 | 1 | 294 | 0.0034 | 2222 | c.515 others(2239): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | ||||||
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(2215): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0018 | 1 | 272 | 0.0037 | 2222 | c.-12 others(2243): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |