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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MSH3_chr5_80649652_80881815 | 80692400 | T | TTAGATAG others(177): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0331 | 1 | 362 | 0.0028 | 184 | c.134 others(205): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MYNN_chr3_169768396_169794716 | 169771186 | A | TTTATATT others(177): Show |
upstream_gene_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 350 | 0.0029 | 184 | c.-23 others(195): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2210 | chr3 | TogoVar | |||||||
MYRIP_chr3_39804609_40265321 | 40084296 | T | TATAATAC others(177): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 170 | 0.0059 | 184 | c.332 others(203): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MYRIP_chr3_39804609_40265321 | 40084511 | C | CTATCGAT others(177): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0082 | 1 | 170 | 0.0059 | 184 | c.332 others(203): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NCAPH2_chr22_50503224_50529780 | 50504238 | C | CAGTGCCC others(177): Show |
upstream_gene_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 384 | 0.0026 | 184 | c.-41 others(195): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 3985 | chr22 | TogoVar | |||||||
NEO1_chr15_73047463_73310205 | 73191318 | T | TGTAACTT others(177): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0057 | 1 | 324 | 0.0031 | 184 | c.129 others(205): Show |
NEO1 | ENSG00000067141.17 | transcript | ENST00000261908.11 | protein_coding | 7/28 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
NINL_chr20_25447697_25590531 | 25468941 | T | TGACTCTC others(177): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0004 | a0004c0012 | a0004c0012t0001 | a0004c0012t0001g0214 | 1 | 310 | 0.0032 | 184 | c.335 others(203): Show |
NINL | ENSG00000101004.16 | transcript | ENST00000278886.11 | protein_coding | 18/23 | chr20 | TogoVar | |||||||
NLK_chr17_28037677_28201381 | 28172264 | A | AAATTCCT others(177): Show |
intron_variant | MODIFIER | HG02257.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0105 a0001c0001t0005g0106 |
2 | 108 | 0.0185 | 184 | c.104 others(201): Show |
NLK | ENSG00000087095.13 | transcript | ENST00000407008.8 | protein_coding | 6/10 | chr17 | TogoVar | |||||||
NLRP13_chr19_55890945_55937336 | 55930880 | A | ATATATAT others(177): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0005 | a0005c0013 | a0005c0013t0001 | a0005c0013t0001g0411 | 1 | 440 | 0.0023 | 184 | c.319 others(201): Show |
NLRP13 | ENSG00000173572.12 | transcript | ENST00000342929.4 | protein_coding | 1/10 | chr19 | TogoVar | |||||||
NLRP5_chr19_55994726_56066810 | 55998672 | G | GTGTGTGT others(177): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 | a0009 | a0009c0013 | a0009c0013t0001 | a0009c0013t0001g0351 | 1 | 396 | 0.0025 | 184 | c.-10 others(195): Show |
NLRP5 | ENSG00000171487.16 | transcript | ENST00000390649.8 | protein_coding | 1053 | chr19 | TogoVar | |||||||
NLRP5_chr19_55994726_56066810 | 55998672 | G | GTGTGTGT others(177): Show |
upstream_gene_variant | MODIFIER | HG02818.hp2 | a0009 | a0009c0013 | a0009c0013t0001 | a0009c0013t0001g0350 | 1 | 396 | 0.0025 | 184 | c.-10 others(195): Show |
NLRP5 | ENSG00000171487.16 | transcript | ENST00000390649.8 | protein_coding | 1053 | chr19 | TogoVar | |||||||
NPIPB4_chr16_21829582_21862756 | 21850494 | C | CAAAAAAT others(177): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0061 | a0061c0061 | a0061c0061t0001 | a0061c0061t0001g0048 | 1 | 204 | 0.0049 | 184 | c.121 others(201): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 2/7 | chr16 | TogoVar | |||||||
NRXN2_chr11_64601174_64728197 | 64706162 | A | ATATATAA others(177): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 308 | 0.0033 | 184 | c.730 others(201): Show |
NRXN2 | ENSG00000110076.21 | transcript | ENST00000265459.11 | protein_coding | 2/22 | chr11 | TogoVar | |||||||
NRXN2_chr11_64601174_64728197 | 64706162 | A | ATATATAA others(177): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01070.hp2 HG01074.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 others(10): Show |
13 | 308 | 0.0422 | 184 | c.730 others(201): Show |
NRXN2 | ENSG00000110076.21 | transcript | ENST00000265459.11 | protein_coding | 2/22 | chr11 | TogoVar | |||||||
NXN_chr17_794310_984776 | 891873 | C | CTAACCCC others(177): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01167.hp1 HG01358.hp1 others(20): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0029 a0001c0001t0001g0063 a0001c0001t0001g0076 others(20): Show |
23 | 242 | 0.0950 | 184 | c.361 others(203): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXPH1_chr7_8428609_8757961 | 8623671 | A | AAAAAGTT others(177): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01074.hp1 HG01081.hp1 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0014 a0001c0001t0001g0044 a0001c0001t0001g0050 others(38): Show |
41 | 208 | 0.1971 | 184 | c.55- others(203): Show |
NXPH1 | ENSG00000122584.13 | transcript | ENST00000405863.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NXPH1_chr7_8428609_8757961 | 8623671 | A | AAAAAGTT others(177): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 208 | 0.0048 | 184 | c.55- others(203): Show |
NXPH1 | ENSG00000122584.13 | transcript | ENST00000405863.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NXPH1_chr7_8428609_8757961 | 8623671 | A | AAAAAGTT others(177): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG02109.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0013 a0001c0001t0001g0073 a0001c0001t0001g0105 others(12): Show |
15 | 208 | 0.0721 | 184 | c.55- others(203): Show |
NXPH1 | ENSG00000122584.13 | transcript | ENST00000405863.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
OBI1_chr13_78609289_78664155 | 78659327 | A | AGAAAGAA others(177): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 296 | 0.0034 | 184 | c.-20 others(193): Show |
OBI1 | ENSG00000152193.8 | transcript | ENST00000282003.7 | protein_coding | 173 | chr13 | TogoVar | |||||||
OR13D1_chr9_104689518_104700462 | 104696164 | A | AAAGAAAG others(177): Show |
downstream_gene_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 396 | 0.0025 | 184 | c.*70 others(193): Show |
OR13D1 | ENSG00000179055.8 | transcript | ENST00000641530.1 | protein_coding | 703 | chr9 | TogoVar | |||||||
OSBPL10_chr3_31655825_31986262 | 31857789 | G | GAGAGACA others(177): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 186 | 0.0054 | 184 | c.537 others(203): Show |
OSBPL10 | ENSG00000144645.16 | transcript | ENST00000396556.7 | protein_coding | 3/11 | chr3 | TogoVar | |||||||
OSBPL10_chr3_31655825_31986262 | 31857789 | G | GGAGAGAC others(177): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01070.hp1 HG01070.hp2 others(7): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(3): Show | a0001c0001t0001g0024 a0001c0001t0001g0133 a0001c0002t0001g0113 others(7): Show |
10 | 186 | 0.0538 | 184 | c.537 others(203): Show |
OSBPL10 | ENSG00000144645.16 | transcript | ENST00000396556.7 | protein_coding | 3/11 | chr3 | TogoVar | |||||||
OSBPL10_chr3_31655825_31986262 | 31857789 | G | GGAGAGAC others(177): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01175.hp1 HG01255.hp2 others(1): Show |
a0001a0003 | a0001c0001a0001c0009a0003c0015others(1): Show | a0001c0001t0009a0001c0009t0001a0003c0015t0002others(1): Show | a0001c0001t0009g0127 a0001c0009t0001g0125 a0003c0015t0002g0009 others(1): Show |
4 | 186 | 0.0215 | 184 | c.537 others(203): Show |
OSBPL10 | ENSG00000144645.16 | transcript | ENST00000396556.7 | protein_coding | 3/11 | chr3 | TogoVar | |||||||
OSBPL10_chr3_31655825_31986262 | 31857789 | G | GGGAGAGA others(177): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0146 | 1 | 186 | 0.0054 | 184 | c.537 others(203): Show |
OSBPL10 | ENSG00000144645.16 | transcript | ENST00000396556.7 | protein_coding | 3/11 | chr3 | TogoVar | |||||||
P2RY8_chrX_1457581_1542185 | 1524547 | A | ATCCACTC others(177): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0066 | 1 | 114 | 0.0088 | 184 | c.-25 others(203): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | |||||||
PAK1_chr11_77317017_77479094 | 77332351 | A | AGGGAAGG others(177): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0036 | 1 | 302 | 0.0033 | 184 | c.155 others(201): Show |
PAK1 | ENSG00000149269.10 | transcript | ENST00000356341.8 | protein_coding | 14/14 | chr11 | TogoVar | |||||||
PAK4_chr19_39120786_39184404 | 39153279 | G | GACAGAGT others(177): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0278 | 1 | 368 | 0.0027 | 184 | c.-95 others(203): Show |
PAK4 | ENSG00000130669.17 | transcript | ENST00000360442.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PALM_chr19_703935_753329 | 735231 | T | TGTGTCTG others(177): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02818.hp2 HG02886.hp2 others(7): Show |
a0001 | a0001c0002a0001c0003a0001c0016 | a0001c0002t0001a0001c0002t0002a0001c0003t0006others(1): Show | a0001c0002t0001g0028 a0001c0002t0002g0004 a0001c0002t0002g0025 others(6): Show |
10 | 404 | 0.0248 | 184 | c.443 others(199): Show |
PALM | ENSG00000099864.18 | transcript | ENST00000338448.10 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PALM_chr19_703935_753329 | 735232 | G | GTGTCTGG others(177): Show |
intron_variant | MODIFIER | HG02698.hp2 HG03239.hp2 |
a0002 | a0002c0001 | a0002c0001t0001a0002c0001t0004 | a0002c0001t0001g0056 a0002c0001t0004g0312 |
2 | 404 | 0.0050 | 184 | c.443 others(199): Show |
PALM | ENSG00000099864.18 | transcript | ENST00000338448.10 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PALM_chr19_703935_753329 | 735232 | G | GTGTCTGG others(177): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0004 | a0001c0004t0024 | a0001c0004t0024g0126 | 1 | 404 | 0.0025 | 184 | c.443 others(199): Show |
PALM | ENSG00000099864.18 | transcript | ENST00000338448.10 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PARL_chr3_183824271_183889880 | 183884808 | G | GCAGCCCC others(177): Show |
frameshift_variant others(1): Show |
HIGH | NA19043.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0019 | 1 | 358 | 0.0028 | 184 | c.38_ others(189): Show |
p.Cys others(4): Show |
PARL | ENSG00000175193.14 | transcript | ENST00000317096.9 | protein_coding | 1/10 | 72/1501 | 38/1140 | 13/379 | chr3 | TogoVar | |||
PASD1_chrX_151558675_151681739 | 151562909 | G | GGGGGGGG others(177): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0020 | 1 | 221 | 0.0045 | 184 | c.-95 others(193): Show |
PASD1 | ENSG00000166049.11 | transcript | ENST00000370357.5 | protein_coding | 765 | chrX | TogoVar | |||||||
PATL1_chr11_59631716_59674037 | 59632736 | T | TATATCTA others(177): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0198 | 1 | 276 | 0.0036 | 184 | c.*56 others(195): Show |
PATL1 | ENSG00000166889.14 | transcript | ENST00000300146.10 | protein_coding | 3979 | chr11 | TogoVar | |||||||
PCED1A_chr20_2830314_2845655 | 2842829 | T | TATAGATG others(177): Show |
upstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 436 | 0.0023 | 184 | c.-26 others(195): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2175 | chr20 | TogoVar | |||||||
PCED1A_chr20_2830314_2845655 | 2842829 | T | TATAGATG others(177): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 NA18972.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 2 | 436 | 0.0046 | 184 | c.-26 others(195): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2175 | chr20 | TogoVar | |||||||
PCLO_chr7_82749012_83167884 | 82999857 | T | TTATATAT others(177): Show |
intron_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0145 | 1 | 188 | 0.0053 | 184 | c.330 others(205): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | |||||||
PEBP4_chr8_22708251_22932914 | 22860226 | A | ATACACAT others(177): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0096 | 1 | 278 | 0.0036 | 184 | c.259 others(203): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 3/6 | chr8 | TogoVar | |||||||
PER3_chr1_7779291_7850177 | 7803433 | C | CAAAAAAT others(177): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01255.hp1 HG02896.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0009 a0002c0002t0001g0190 |
3 | 410 | 0.0073 | 184 | c.980 others(199): Show |
PER3 | ENSG00000049246.15 | transcript | ENST00000377532.8 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PEX10_chr1_2398974_2417564 | 2401382 | T | TCCTCCCT others(177): Show |
downstream_gene_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0017 | a0001c0017t0001 | a0001c0017t0001g0127 | 1 | 358 | 0.0028 | 184 | c.*43 others(195): Show |
PEX10 | ENSG00000157911.11 | transcript | ENST00000447513.7 | protein_coding | 2591 | chr1 | TogoVar | |||||||
PGAM5_chr12_132705842_132727734 | 132718391 | G | GGTCCTGG others(177): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0155 | 1 | 394 | 0.0025 | 184 | c.719 others(199): Show |
PGAM5 | ENSG00000247077.8 | transcript | ENST00000498926.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PGAM5_chr12_132705842_132727734 | 132718514 | T | TGTCCTGG others(177): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0096 | 1 | 394 | 0.0025 | 184 | c.719 others(199): Show |
PGAM5 | ENSG00000247077.8 | transcript | ENST00000498926.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PGAM5_chr12_132705842_132727734 | 132718531 | G | GTGCTGGG others(177): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0068 | 1 | 394 | 0.0025 | 184 | c.719 others(199): Show |
PGAM5 | ENSG00000247077.8 | transcript | ENST00000498926.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PIK3R1_chr5_68210756_68306821 | 68263008 | T | TATACATG others(177): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0002 | a0002c0004 | a0002c0004t0061 | a0002c0004t0061g0244 | 1 | 308 | 0.0033 | 184 | c.335 others(203): Show |
PIK3R1 | ENSG00000145675.16 | transcript | ENST00000521381.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PKHD1_chr6_51610299_52092613 | 51981304 | G | GCTCCCTC others(177): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0002 | a0002c0005 | a0002c0005t0004 | a0002c0005t0004g0076 | 1 | 134 | 0.0075 | 184 | c.575 others(205): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 401629 | G | GACCCGCT others(177): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01256.hp1 HG01943.hp2 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0149 a0001c0003t0001g0152 a0001c0003t0001g0155 others(2): Show |
5 | 216 | 0.0232 | 184 | c.173 others(201): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | chr11 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 402351 | G | GCCCCGCT others(177): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02683.hp1 |
a0001a0017 | a0001c0004a0017c0040 | a0001c0004t0001a0017c0040t0001 | a0001c0004t0001g0080 a0017c0040t0001g0163 |
2 | 216 | 0.0093 | 184 | c.173 others(201): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PLCH1_chr3_155474881_155750071 | 155667902 | T | TAAAAAAA others(177): Show |
intron_variant | MODIFIER | HG01978.hp1 HG02257.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0088 a0001c0003t0001g0235 |
2 | 264 | 0.0076 | 184 | c.79+ others(201): Show |
PLCH1 | ENSG00000114805.18 | transcript | ENST00000460012.7 | protein_coding | 2/22 | chr3 | TogoVar | |||||||
PLCH1_chr3_155474881_155750071 | 155668084 | C | CAAAAAAA others(177): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0022 | a0001c0022t0003 | a0001c0022t0003g0019 | 1 | 264 | 0.0038 | 184 | c.79+ others(201): Show |
PLCH1 | ENSG00000114805.18 | transcript | ENST00000460012.7 | protein_coding | 2/22 | chr3 | TogoVar | |||||||
PLCL2_chr3_16879955_17095604 | 17063252 | C | CCCTCCCT others(177): Show |
intron_variant | MODIFIER | HG02027.hp2 NA18942.hp2 NA18955.hp2 others(6): Show |
a0001 | a0001c0002a0001c0016 | a0001c0002t0001a0001c0016t0001 | a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0055 others(6): Show |
9 | 250 | 0.0360 | 184 | c.309 others(203): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PLD5_chr1_242077986_242529697 | 242394804 | A | ATATGAAT others(177): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02258.hp1 HG02615.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0014a0001c0002t0003others(2): Show | a0001c0001t0001g0011 a0001c0001t0001g0039 a0001c0001t0014g0179 others(5): Show |
8 | 188 | 0.0426 | 184 | c.190 others(203): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 1/9 | chr1 | TogoVar |