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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KCNQ2_chr20_63395208_63477655 | 63442897 | C | CATCACCA others(424): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02886.hp2 |
a0001 | a0001c0002 | a0001c0002t0023a0001c0002t0087 | a0001c0002t0023g0027 a0001c0002t0087g0105 |
2 | 330 | 0.0061 | 431 | c.691 others(446): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 4/16 | chr20 | TogoVar | |||||||
KIF25_chr6_167992671_168050091 | 168035461 | C | CGGGGGGG others(424): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0006 | a0006c0008 | a0006c0008t0016 | a0006c0008t0016g0167 | 1 | 375 | 0.0027 | 431 | c.317 others(448): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KLK6_chr19_50953631_50974591 | 50959671 | A | AGAGAGAA others(424): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 316 | 0.0032 | 431 | c.583 others(446): Show |
KLK6 | ENSG00000167755.15 | transcript | ENST00000310157.7 | protein_coding | 6/6 | chr19 | TogoVar | |||||||
KLK6_chr19_50953631_50974591 | 50959671 | A | AGAGAGAA others(424): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0010 | a0010c0022 | a0010c0022t0001 | a0010c0022t0001g0133 | 1 | 316 | 0.0032 | 431 | c.583 others(446): Show |
KLK6 | ENSG00000167755.15 | transcript | ENST00000310157.7 | protein_coding | 6/6 | chr19 | TogoVar | |||||||
KLK6_chr19_50953631_50974591 | 50959671 | A | AGAGAGAA others(424): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 316 | 0.0032 | 431 | c.583 others(446): Show |
KLK6 | ENSG00000167755.15 | transcript | ENST00000310157.7 | protein_coding | 6/6 | chr19 | TogoVar | |||||||
KLK6_chr19_50953631_50974591 | 50959671 | A | AGAGAGAA others(424): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 316 | 0.0032 | 431 | c.583 others(446): Show |
KLK6 | ENSG00000167755.15 | transcript | ENST00000310157.7 | protein_coding | 6/6 | chr19 | TogoVar | |||||||
KLK6_chr19_50953631_50974591 | 50959671 | A | AGAGAGAA others(424): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 316 | 0.0032 | 431 | c.583 others(446): Show |
KLK6 | ENSG00000167755.15 | transcript | ENST00000310157.7 | protein_coding | 6/6 | chr19 | TogoVar | |||||||
KLK6_chr19_50953631_50974591 | 50959671 | A | AGAGAGAA others(424): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 316 | 0.0032 | 431 | c.583 others(446): Show |
KLK6 | ENSG00000167755.15 | transcript | ENST00000310157.7 | protein_coding | 6/6 | chr19 | TogoVar | |||||||
KLK6_chr19_50953631_50974591 | 50959671 | A | AGAGAGAA others(424): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 316 | 0.0032 | 431 | c.583 others(446): Show |
KLK6 | ENSG00000167755.15 | transcript | ENST00000310157.7 | protein_coding | 6/6 | chr19 | TogoVar | |||||||
LAMA2_chr6_128878138_129521566 | 129385145 | G | GAGAAGGA others(424): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02809.hp2 |
a0003a0025 | a0003c0044a0025c0057 | a0003c0044t0003a0025c0057t0003 | a0003c0044t0003g0020 a0025c0057t0003g0043 |
2 | 88 | 0.0227 | 431 | c.507 others(450): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 35/64 | chr6 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62360602 | G | GTGGGTGG others(424): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0042 | a0042c0134 | a0042c0134t0001 | a0042c0134t0001g0081 | 1 | 186 | 0.0054 | 431 | c.450 others(448): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 2/79 | chr20 | TogoVar | |||||||
LRP1_chr12_57123483_57218361 | 57191928 | T | TACCACAC others(424): Show |
intron_variant | MODIFIER | HG03209.hp1 NA19043.hp2 |
a0001 | a0001c0024 | a0001c0024t0001a0001c0024t0009 | a0001c0024t0001g0033 a0001c0024t0009g0097 |
2 | 276 | 0.0073 | 431 | c.742 others(448): Show |
LRP1 | ENSG00000123384.14 | transcript | ENST00000243077.8 | protein_coding | 44/88 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
LRP1_chr12_57123483_57218361 | 57191928 | T | TACCACAC others(424): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00423.hp2 others(104): Show |
a0001a0004a0005others(7): Show | a0001c0002a0001c0004a0001c0008others(23): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(28): Show | a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0057 others(101): Show |
107 | 276 | 0.3877 | 431 | c.742 others(448): Show |
LRP1 | ENSG00000123384.14 | transcript | ENST00000243077.8 | protein_coding | 44/88 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
LRP1_chr12_57123483_57218361 | 57191928 | T | TACCACAC others(424): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02717.hp2 HG02895.hp1 others(3): Show |
a0001a0002 | a0001c0030a0001c0035a0001c0041others(2): Show | a0001c0030t0003a0001c0035t0002a0001c0041t0005others(3): Show | a0001c0030t0003g0010 a0001c0035t0002g0089 a0001c0041t0005g0034 others(3): Show |
6 | 276 | 0.0217 | 431 | c.742 others(448): Show |
LRP1 | ENSG00000123384.14 | transcript | ENST00000243077.8 | protein_coding | 44/88 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
LRP1_chr12_57123483_57218361 | 57191928 | T | TACCACAC others(424): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02071.hp2 HG02129.hp1 others(4): Show |
a0001 | a0001c0014a0001c0027a0001c0031others(1): Show | a0001c0014t0005a0001c0014t0009a0001c0027t0005others(2): Show | a0001c0014t0005g0206 a0001c0014t0005g0225 a0001c0014t0009g0224 others(4): Show |
7 | 276 | 0.0254 | 431 | c.742 others(448): Show |
LRP1 | ENSG00000123384.14 | transcript | ENST00000243077.8 | protein_coding | 44/88 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
LRRC14_chr8_144512992_144530172 | 144513832 | A | AGGAGGGG others(424): Show |
upstream_gene_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0002 | 1 | 414 | 0.0024 | 431 | c.-43 others(442): Show |
LRRC14 | ENSG00000160959.8 | transcript | ENST00000292524.6 | protein_coding | 4159 | chr8 | TogoVar | |||||||
LRRC23_chr12_6899822_6919229 | 6909135 | T | TATATAAT others(424): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0160 | 1 | 316 | 0.0032 | 431 | c.622 others(446): Show |
LRRC23 | ENSG00000010626.15 | transcript | ENST00000443597.7 | protein_coding | 5/7 | chr12 | TogoVar | |||||||
MAP3K15_chrX_19355059_19520508 | 19478005 | G | GGAGAGAG others(424): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0002 | a0002c0003 | a0002c0003t0014 | a0002c0003t0014g0022 | 1 | 163 | 0.0061 | 431 | c.525 others(448): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar | |||||||
MAPKAP1_chr9_125432394_125712208 | 125458888 | G | GCGGGGTG others(424): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0203 | 1 | 300 | 0.0033 | 431 | c.134 others(450): Show |
MAPKAP1 | ENSG00000119487.17 | transcript | ENST00000265960.8 | protein_coding | 10/11 | chr9 | TogoVar | |||||||
METRNL_chr17_83074609_83100122 | 83090409 | C | CCCCGCCC others(424): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 399 | 0.0025 | 431 | c.557 others(448): Show |
METRNL | ENSG00000176845.13 | transcript | ENST00000320095.12 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
METTL25B_chr1_156723469_156741960 | 156735555 | A | AATAGGCA others(424): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0194 | 1 | 390 | 0.0026 | 431 | c.112 others(448): Show |
METTL25B | ENSG00000143303.12 | transcript | ENST00000368216.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
METTL25B_chr1_156723469_156741960 | 156735555 | A | AATAGGCA others(424): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0200 | 1 | 390 | 0.0026 | 431 | c.112 others(448): Show |
METTL25B | ENSG00000143303.12 | transcript | ENST00000368216.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
METTL25B_chr1_156723469_156741960 | 156735555 | A | AATAGGCA others(424): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0209 | 1 | 390 | 0.0026 | 431 | c.112 others(448): Show |
METTL25B | ENSG00000143303.12 | transcript | ENST00000368216.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
METTL25B_chr1_156723469_156741960 | 156735557 | A | ATAGGCAG others(424): Show |
intron_variant | MODIFIER | HG02074.hp2 NA18942.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0143 a0001c0001t0004g0237 |
2 | 390 | 0.0051 | 431 | c.112 others(448): Show |
METTL25B | ENSG00000143303.12 | transcript | ENST00000368216.9 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
METTL25B_chr1_156723469_156741960 | 156735557 | A | ATAGGCAG others(424): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0238 | 1 | 390 | 0.0026 | 431 | c.112 others(448): Show |
METTL25B | ENSG00000143303.12 | transcript | ENST00000368216.9 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
MINAR1_chr15_79427336_79477304 | 79438391 | G | GTGTGGGG others(424): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0004 | a0004c0009 | a0004c0009t0005 | a0004c0009t0005g0221 | 1 | 390 | 0.0026 | 431 | c.-51 others(448): Show |
MINAR1 | ENSG00000169330.9 | transcript | ENST00000305428.8 | protein_coding | 1/3 | chr15 | TogoVar | |||||||
MMACHC_chr1_45495300_45518382 | 45497643 | C | CGCCACCC others(424): Show |
upstream_gene_variant | MODIFIER | NA18985.hp2 NA19012.hp1 NA19083.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0025a0001c0002t0001a0001c0002t0005 | a0001c0001t0025g0081 a0001c0002t0001g0057 a0001c0002t0005g0053 |
3 | 386 | 0.0078 | 431 | c.-26 others(442): Show |
MMACHC | ENSG00000132763.15 | transcript | ENST00000401061.9 | protein_coding | 2656 | chr1 | TogoVar | |||||||
MRPL24_chr1_156732303_156746088 | 156735555 | A | AATAGGCA others(424): Show |
downstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 1 | 364 | 0.0028 | 431 | c.*18 others(442): Show |
MRPL24 | ENSG00000143314.12 | transcript | ENST00000361531.6 | protein_coding | 1747 | chr1 | TogoVar | |||||||
MRPL24_chr1_156732303_156746088 | 156735555 | A | AATAGGCA others(424): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 1 | 364 | 0.0028 | 431 | c.*18 others(442): Show |
MRPL24 | ENSG00000143314.12 | transcript | ENST00000361531.6 | protein_coding | 1747 | chr1 | TogoVar | |||||||
MRPL24_chr1_156732303_156746088 | 156735555 | A | AATAGGCA others(424): Show |
downstream_gene_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 1 | 364 | 0.0028 | 431 | c.*18 others(442): Show |
MRPL24 | ENSG00000143314.12 | transcript | ENST00000361531.6 | protein_coding | 1747 | chr1 | TogoVar | |||||||
MRPL24_chr1_156732303_156746088 | 156735557 | A | ATAGGCAG others(424): Show |
downstream_gene_variant | MODIFIER | HG02074.hp1 NA18942.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 a0001c0001t0003g0015 |
2 | 364 | 0.0055 | 431 | c.*18 others(442): Show |
MRPL24 | ENSG00000143314.12 | transcript | ENST00000361531.6 | protein_coding | 1745 | chr1 | TogoVar | |||||||
MRPL24_chr1_156732303_156746088 | 156735557 | A | ATAGGCAG others(424): Show |
downstream_gene_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0015 | 1 | 364 | 0.0028 | 431 | c.*18 others(442): Show |
MRPL24 | ENSG00000143314.12 | transcript | ENST00000361531.6 | protein_coding | 1745 | chr1 | TogoVar | |||||||
MRPL24_chr1_156732303_156746088 | 156735558 | A | ATAGGCAG others(424): Show |
downstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0051 | 1 | 364 | 0.0028 | 431 | c.*18 others(442): Show |
MRPL24 | ENSG00000143314.12 | transcript | ENST00000361531.6 | protein_coding | 1744 | chr1 | TogoVar | |||||||
MSH4_chr1_75791882_75918242 | 75906498 | T | TATATATA others(424): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0156 | 1 | 332 | 0.0030 | 431 | c.262 others(450): Show |
MSH4 | ENSG00000057468.7 | transcript | ENST00000263187.4 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTATGT others(424): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0005 | a0001c0005t0006 | a0001c0005t0006g0105 | 1 | 362 | 0.0028 | 431 | c.-75 others(450): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTGTAC others(424): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0155 | 1 | 362 | 0.0028 | 431 | c.-75 others(450): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTGTAC others(424): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 362 | 0.0028 | 431 | c.-75 others(450): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
NR3C2_chr4_148073764_148447414 | 148366424 | G | GAAAAAGA others(424): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01169.hp1 HG02155.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0086 a0001c0001t0003g0128 a0001c0001t0004g0138 |
3 | 170 | 0.0177 | 431 | c.175 others(452): Show |
NR3C2 | ENSG00000151623.15 | transcript | ENST00000358102.8 | protein_coding | 2/8 | chr4 | TogoVar | |||||||
NR3C2_chr4_148073764_148447414 | 148366424 | G | GAAAAAGA others(424): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 170 | 0.0059 | 431 | c.175 others(452): Show |
NR3C2 | ENSG00000151623.15 | transcript | ENST00000358102.8 | protein_coding | 2/8 | chr4 | TogoVar | |||||||
NR3C2_chr4_148073764_148447414 | 148366424 | G | GAAAAAGA others(424): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0027 | 1 | 170 | 0.0059 | 431 | c.175 others(452): Show |
NR3C2 | ENSG00000151623.15 | transcript | ENST00000358102.8 | protein_coding | 2/8 | chr4 | TogoVar | |||||||
NT5C1A_chr1_39646229_39677107 | 39664497 | T | TCCTCTCC others(424): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0096 | 1 | 326 | 0.0031 | 431 | c.433 others(448): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
NXN_chr17_794310_984776 | 948826 | G | GGCCTCCT others(424): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035 | 1 | 242 | 0.0041 | 431 | c.360 others(450): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 949032 | C | CCTGCCTC others(424): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 242 | 0.0041 | 431 | c.360 others(450): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 949221 | G | GTGGCCTC others(424): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0163 | 1 | 242 | 0.0041 | 431 | c.360 others(450): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
PARP10_chr8_143972158_143991460 | 143981666 | G | GTGGTGAT others(424): Show |
intron_variant | MODIFIER | NA18989.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0254 | 1 | 380 | 0.0026 | 431 | c.255 others(450): Show |
PARP10 | ENSG00000178685.14 | transcript | ENST00000313028.12 | protein_coding | 9/10 | chr8 | TogoVar | |||||||
PCDH11Y_chrY_4995296_5747224 | 5525214 | T | TGGGAGGA others(424): Show |
intron_variant | MODIFIER | HG01099.hp1 HG03579.hp1 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 a0001c0001t0001g0082 a0001c0001t0001g0096 |
3 | 115 | 0.0261 | 431 | c.305 others(452): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
PKP3_chr11_389209_409908 | 398689 | G | GCGTCACC others(424): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 216 | 0.0046 | 431 | c.106 others(448): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 141082 | C | CCCCTGCA others(424): Show |
intron_variant | MODIFIER | HG02723.hp2 NA18522.hp2 |
a0001 | a0001c0002a0001c0011 | a0001c0002t0006a0001c0011t0106 | a0001c0002t0006g0134 a0001c0011t0106g0085 |
2 | 210 | 0.0095 | 431 | c.147 others(448): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PPP2R2C_chr4_6315581_6477614 | 6353775 | A | AACACCCA others(424): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 298 | 0.0034 | 431 | c.626 others(448): Show |
PPP2R2C | ENSG00000074211.14 | transcript | ENST00000382599.9 | protein_coding | 5/8 | chr4 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 161874944 | T | TAATATAT others(424): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0015 | 1 | 32 | 0.0313 | 431 | c.735 others(450): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 6/11 | chr6 | TogoVar |