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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PPP1R14C_chr6_150138044_150255392 | 150167969 | T | TCTCTCCT others(2406): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0046 | 1 | 312 | 0.0032 | 2413 | c.306 others(2432): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706313 | G | GATAGATA others(2407): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0058 | 1 | 292 | 0.0034 | 2414 | c.228 others(2431): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706313 | G | GATAGATA others(2407): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 292 | 0.0034 | 2414 | c.228 others(2431): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706313 | G | GATAGATA others(2407): Show |
upstream_gene_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0008 | a0001c0008t0011 | a0001c0008t0011g0331 | 1 | 369 | 0.0027 | 2414 | c.-50 others(2425): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4887 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706313 | G | GATAGATA others(2407): Show |
upstream_gene_variant | MODIFIER | NA19002.hp2 | a0061 | a0061c0068 | a0061c0068t0031 | a0061c0068t0031g0333 | 1 | 369 | 0.0027 | 2414 | c.-50 others(2425): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4887 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706313 | G | GATAGATA others(2407): Show |
upstream_gene_variant | MODIFIER | HG04204.hp2 | a0016 | a0016c0027 | a0016c0027t0007 | a0016c0027t0007g0346 | 1 | 369 | 0.0027 | 2414 | c.-50 others(2425): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4887 | chr4 | TogoVar | |||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2407): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0081 | 1 | 116 | 0.0086 | 2414 | c.522 others(2431): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2407): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0044 | 1 | 116 | 0.0086 | 2414 | c.522 others(2431): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SART1_chr11_65956734_65985137 | 65971177 | A | AAGCTGAG others(2407): Show |
intron_variant | MODIFIER | HG02056.hp2 NA18947.hp2 NA18960.hp2 others(2): Show |
a0001 | a0001c0003a0001c0024 | a0001c0003t0002a0001c0024t0002 | a0001c0003t0002g0014 a0001c0003t0002g0176 a0001c0003t0002g0199 others(1): Show |
5 | 384 | 0.0130 | 2414 | c.157 others(2433): Show |
SART1 | ENSG00000175467.15 | transcript | ENST00000312397.10 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SART1_chr11_65956734_65985137 | 65971177 | A | AAGCTGAG others(2407): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03471.hp1 |
a0001a0009 | a0001c0003a0009c0023 | a0001c0003t0002a0009c0023t0002 | a0001c0003t0002g0180 a0009c0023t0002g0179 |
2 | 384 | 0.0052 | 2414 | c.157 others(2433): Show |
SART1 | ENSG00000175467.15 | transcript | ENST00000312397.10 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 964867 | A | ATGGAAAG others(2408): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0125 | 1 | 268 | 0.0037 | 2415 | c.137 others(2432): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GTF3C6_chr6_110953706_110972872 | 110956985 | T | TAATTATT others(2408): Show |
upstream_gene_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 346 | 0.0029 | 2415 | c.-17 others(2426): Show |
GTF3C6 | ENSG00000155115.7 | transcript | ENST00000329970.8 | protein_coding | 1720 | chr6 | TogoVar | |||||||
NEURL3_chr2_96492646_96510357 | 96499868 | T | TAACAAAT others(2408): Show |
intron_variant | MODIFIER | HG03130.hp1 HG03195.hp1 NA19030.hp2 |
a0001a0010 | a0001c0002a0010c0010 | a0001c0002t0001a0010c0010t0004 | a0001c0002t0001g0024 a0010c0010t0004g0067 |
3 | 394 | 0.0076 | 2415 | c.515 others(2430): Show |
NEURL3 | ENSG00000163121.10 | transcript | ENST00000451794.6 | protein_coding | 2/3 | chr2 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(2408): Show |
downstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 375 | 0.0027 | 2415 | c.*44 others(2426): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(2408): Show |
downstream_gene_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 375 | 0.0027 | 2415 | c.*44 others(2426): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(2408): Show |
downstream_gene_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 375 | 0.0027 | 2415 | c.*44 others(2426): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(2408): Show |
downstream_gene_variant | MODIFIER | NA18951.hp2 NA18968.hp2 NA19087.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0000 a0001c0001t0009g0000 |
3 | 375 | 0.0080 | 2415 | c.*44 others(2426): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(2408): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0000 | 1 | 375 | 0.0027 | 2415 | c.*44 others(2426): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | |||||||
SMOC2_chr6_168436184_168672992 | 168594729 | C | CGGGCGTC others(2408): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 180 | 0.0056 | 2415 | c.638 others(2432): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168594729 | C | CGGGCGTC others(2408): Show |
intron_variant | MODIFIER | HG01256.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 a0001c0001t0001g0083 |
2 | 180 | 0.0111 | 2415 | c.638 others(2432): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TMEM167A_chr5_83047846_83082394 | 83059476 | C | CTTTACTT others(2408): Show |
intron_variant | MODIFIER | HG02895.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 | 2 | 364 | 0.0055 | 2415 | c.149 others(2432): Show |
TMEM167A | ENSG00000174695.10 | transcript | ENST00000502346.2 | protein_coding | 3/3 | chr5 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758421 | A | ACTCATTC others(2409): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0013 | a0013c0010 | a0013c0010t0001 | a0013c0010t0001g0178 | 1 | 300 | 0.0033 | 2416 | c.655 others(2435): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
KCNK3_chr2_26687722_26738420 | 26714468 | T | TGGGGCCC others(2409): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 336 | 0.0030 | 2416 | c.284 others(2435): Show |
KCNK3 | ENSG00000171303.8 | transcript | ENST00000302909.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KCNK3_chr2_26687722_26738420 | 26714468 | T | TGGGGCCC others(2409): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 336 | 0.0030 | 2416 | c.284 others(2435): Show |
KCNK3 | ENSG00000171303.8 | transcript | ENST00000302909.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KCNK3_chr2_26687722_26738420 | 26714468 | T | TGGGGCCC others(2409): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02897.hp2 |
a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0027 | 2 | 336 | 0.0060 | 2416 | c.284 others(2435): Show |
KCNK3 | ENSG00000171303.8 | transcript | ENST00000302909.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KCNK3_chr2_26687722_26738420 | 26714468 | T | TGGGGCCC others(2409): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 336 | 0.0030 | 2416 | c.284 others(2435): Show |
KCNK3 | ENSG00000171303.8 | transcript | ENST00000302909.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KCNK3_chr2_26687722_26738420 | 26714468 | T | TGGGGCCC others(2409): Show |
intron_variant | MODIFIER | HG02622.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0032 | a0001c0001t0001g0128 a0001c0001t0032g0135 |
2 | 336 | 0.0060 | 2416 | c.284 others(2435): Show |
KCNK3 | ENSG00000171303.8 | transcript | ENST00000302909.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KCNK3_chr2_26687722_26738420 | 26714468 | T | TGGGGCCC others(2409): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0068 | 1 | 336 | 0.0030 | 2416 | c.284 others(2435): Show |
KCNK3 | ENSG00000171303.8 | transcript | ENST00000302909.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KCNK3_chr2_26687722_26738420 | 26714468 | T | TGGGGCCC others(2409): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 336 | 0.0030 | 2416 | c.284 others(2435): Show |
KCNK3 | ENSG00000171303.8 | transcript | ENST00000302909.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KCNK3_chr2_26687722_26738420 | 26714468 | T | TGGGGCCC others(2409): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00438.hp2 others(75): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0041 a0001c0001t0001g0050 a0001c0001t0001g0052 others(70): Show |
78 | 336 | 0.2321 | 2416 | c.284 others(2435): Show |
KCNK3 | ENSG00000171303.8 | transcript | ENST00000302909.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KCNK3_chr2_26687722_26738420 | 26714468 | T | TGGGGCCC others(2409): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00438.hp1 others(51): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(13): Show | a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0018 others(46): Show |
54 | 336 | 0.1607 | 2416 | c.284 others(2435): Show |
KCNK3 | ENSG00000171303.8 | transcript | ENST00000302909.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KCNK3_chr2_26687722_26738420 | 26714468 | T | TGGGGCCC others(2409): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02257.hp2 HG02280.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0011others(3): Show | a0001c0001t0001g0016 a0001c0001t0001g0131 a0001c0001t0001g0136 others(8): Show |
12 | 336 | 0.0357 | 2416 | c.284 others(2435): Show |
KCNK3 | ENSG00000171303.8 | transcript | ENST00000302909.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KCNK3_chr2_26687722_26738420 | 26714468 | T | TGGGGCCC others(2409): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0003 | a0003c0006 | a0003c0006t0003 | a0003c0006t0003g0080 | 1 | 336 | 0.0030 | 2416 | c.284 others(2435): Show |
KCNK3 | ENSG00000171303.8 | transcript | ENST00000302909.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KCNK3_chr2_26687722_26738420 | 26714468 | T | TGGGGCCC others(2409): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02451.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 3 | 336 | 0.0089 | 2416 | c.284 others(2435): Show |
KCNK3 | ENSG00000171303.8 | transcript | ENST00000302909.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2409): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0055 | 1 | 116 | 0.0086 | 2416 | c.522 others(2433): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2409): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 | 1 | 116 | 0.0086 | 2416 | c.522 others(2433): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2409): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0003 | a0001c0003t0012 | a0001c0003t0012g0111 | 1 | 116 | 0.0086 | 2416 | c.522 others(2433): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MED16_chr19_862963_898187 | 871891 | C | CGGGAGAG others(2409): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0008 | a0008c0007 | a0008c0007t0002 | a0008c0007t0002g0020 | 1 | 56 | 0.0179 | 2416 | c.209 others(2431): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | TogoVar | |||||||
NEURL3_chr2_96492646_96510357 | 96499868 | T | TAACAAAT others(2409): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0064 | 1 | 394 | 0.0025 | 2416 | c.515 others(2431): Show |
NEURL3 | ENSG00000163121.10 | transcript | ENST00000451794.6 | protein_coding | 2/3 | chr2 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196811201 | C | CCCTTCCC others(2409): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 178 | 0.0056 | 2416 | c.773 others(2431): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PXDNL_chr8_51314577_51814445 | 51790811 | T | TGTGAAAA others(2409): Show |
intron_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 122 | 0.0082 | 2416 | c.164 others(2435): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 1/22 | chr8 | TogoVar | |||||||
TMEM167A_chr5_83047846_83082394 | 83059476 | C | CTTTACTT others(2409): Show |
intron_variant | MODIFIER | HG02004.hp1 HG02486.hp2 HG02559.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 5 | 364 | 0.0137 | 2416 | c.149 others(2433): Show |
TMEM167A | ENSG00000174695.10 | transcript | ENST00000502346.2 | protein_coding | 3/3 | chr5 | TogoVar | |||||||
ABCA7_chr19_1035107_1070572 | 1049905 | C | CGACCGCT others(2410): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0003 | a0003c0020 | a0003c0020t0001 | a0003c0020t0001g0023 | 1 | 30 | 0.0333 | 2417 | c.255 others(2434): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | TogoVar | |||||||
BRSK2_chr11_1384934_1467689 | 1432243 | G | GGGTCTGG others(2410): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 360 | 0.0028 | 2417 | c.92- others(2432): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2410): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 316 | 0.0032 | 2417 | c.44- others(2430): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GTF3C6_chr6_110953706_110972872 | 110956985 | T | TAATTATT others(2410): Show |
upstream_gene_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 346 | 0.0029 | 2417 | c.-17 others(2428): Show |
GTF3C6 | ENSG00000155115.7 | transcript | ENST00000329970.8 | protein_coding | 1720 | chr6 | TogoVar | |||||||
KCNK3_chr2_26687722_26738420 | 26714468 | T | TGGGGCCC others(2410): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01884.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(3): Show | a0001c0001t0001g0006 a0001c0001t0001g0137 a0001c0001t0001g0141 others(9): Show |
17 | 336 | 0.0506 | 2417 | c.284 others(2436): Show |
KCNK3 | ENSG00000171303.8 | transcript | ENST00000302909.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KCNK3_chr2_26687722_26738420 | 26714468 | T | TGGGGCCC others(2410): Show |
intron_variant | MODIFIER | HG00741.hp1 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0232 a0001c0001t0002g0255 |
2 | 336 | 0.0060 | 2417 | c.284 others(2436): Show |
KCNK3 | ENSG00000171303.8 | transcript | ENST00000302909.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KCNK3_chr2_26687722_26738420 | 26714468 | T | TGGGGCCC others(2410): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0253 | 1 | 336 | 0.0030 | 2417 | c.284 others(2436): Show |
KCNK3 | ENSG00000171303.8 | transcript | ENST00000302909.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KCNK3_chr2_26687722_26738420 | 26714468 | T | TGGGGCCC others(2410): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(123): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0026 a0001c0001t0001g0144 a0001c0001t0001g0180 others(107): Show |
126 | 336 | 0.3750 | 2417 | c.284 others(2436): Show |
KCNK3 | ENSG00000171303.8 | transcript | ENST00000302909.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |