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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASB9_chrX_15238987_15275083 | 15267555 | T | TAACATGG others(858): Show |
intron_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 336 | 0.0030 | 865 | c.94+ others(880): Show |
ASB9 | ENSG00000102048.16 | transcript | ENST00000380488.9 | protein_coding | 1/6 | chrX | TogoVar | ||||||
ASB9_chrX_15238987_15275083 | 15267555 | T | TAACATGG others(858): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01123.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0026a0001c0001t0001g0153a0001c0001t0013g0152 | 4 | 336 | 0.0119 | 865 | c.94+ others(880): Show |
ASB9 | ENSG00000102048.16 | transcript | ENST00000380488.9 | protein_coding | 1/6 | chrX | TogoVar | ||||||
ASB9_chrX_15238987_15275083 | 15267555 | T | TAACATGG others(858): Show |
intron_variant | MODIFIER | NA19240.hp2 NA20752.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0034a0001c0001t0005g0220 | 3 | 336 | 0.0089 | 865 | c.94+ others(880): Show |
ASB9 | ENSG00000102048.16 | transcript | ENST00000380488.9 | protein_coding | 1/6 | chrX | TogoVar | ||||||
BTNL9_chr5_181035266_181066521 | 181045800 | C | CCAACACC others(858): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0114 | 1 | 390 | 0.0026 | 865 | c.109 others(880): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CAMK1D_chr10_12344547_12840545 | 12413574 | G | GGATGATG others(858): Show |
intron_variant | MODIFIER | HG01167.hp2 NA19030.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0008 | a0001c0001t0005g0040a0001c0002t0008g0108 | 2 | 214 | 0.0094 | 865 | c.92+ others(882): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CAMK1D_chr10_12344547_12840545 | 12413574 | G | GGATGATG others(858): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02486.hp1 HG02486.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0019a0001c0001t0020others(10): Show | a0001c0001t0002g0032a0001c0001t0002g0088a0001c0001t0019g0084others(11): Show | 14 | 214 | 0.0654 | 865 | c.92+ others(882): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CAMK1D_chr10_12344547_12840545 | 12413574 | G | GGATGATG others(858): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0109 | a0001c0001t0109g0161 | 1 | 214 | 0.0047 | 865 | c.92+ others(882): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CAMK1D_chr10_12344547_12840545 | 12413574 | G | GGATGATG others(858): Show |
intron_variant | MODIFIER | HG03225.hp1 HG03471.hp1 |
a0001 | a0001c0002 | a0001c0002t0016a0001c0002t0054 | a0001c0002t0016g0165a0001c0002t0054g0019 | 2 | 214 | 0.0094 | 865 | c.92+ others(882): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CAMK1D_chr10_12344547_12840545 | 12413574 | G | GGATGATG others(858): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0055 | 1 | 214 | 0.0047 | 865 | c.92+ others(882): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CAMK1D_chr10_12344547_12840545 | 12413574 | G | GGATGATG others(858): Show |
intron_variant | MODIFIER | HG02273.hp2 HG02293.hp2 HG02698.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0014others(2): Show | a0001c0001t0003g0012a0001c0001t0006g0187a0001c0001t0014g0147others(2): Show | 5 | 214 | 0.0234 | 865 | c.92+ others(882): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CAMK1D_chr10_12344547_12840545 | 12413574 | G | GGATGATG others(858): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02257.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0111a0001c0001t0113a0001c0002t0008 | a0001c0001t0111g0028a0001c0001t0113g0034a0001c0002t0008g0113others(1): Show | 4 | 214 | 0.0187 | 865 | c.92+ others(882): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CAMK1D_chr10_12344547_12840545 | 12413574 | G | GGATGATG others(858): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0062 | a0001c0001t0026g0143a0001c0001t0062g0144 | 2 | 214 | 0.0094 | 865 | c.92+ others(882): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CAMK1D_chr10_12344547_12840545 | 12413574 | G | GGATGATG others(858): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0081 | 1 | 214 | 0.0047 | 865 | c.92+ others(882): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CAMK1D_chr10_12344547_12840545 | 12413574 | G | GGATGATG others(858): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00621.hp1 HG01106.hp2 others(29): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0046a0001c0001t0001g0095a0001c0001t0001g0130others(29): Show | 32 | 214 | 0.1495 | 865 | c.92+ others(882): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
COL18A1_chr21_45400165_45518720 | 45500881 | T | TGTGTGGG others(858): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 292 | 0.0034 | 865 | c.268 others(884): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134685430 | C | CCATCCAT others(858): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00673.hp2 others(61): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0125a0001c0001t0001g0147a0001c0001t0002g0081others(61): Show | 64 | 272 | 0.2353 | 865 | c.110 others(882): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134685430 | C | CCATCCAT others(858): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0012 | a0001c0012t0051 | a0001c0012t0051g0086 | 1 | 272 | 0.0037 | 865 | c.110 others(882): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134685430 | C | CCATCCAT others(858): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0139 | 1 | 272 | 0.0037 | 865 | c.110 others(882): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DIDO1_chr20_62872743_62931505 | 62875288 | C | CCCCACCC others(858): Show |
downstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0059 | a0001c0059t0001 | a0001c0059t0001g0059 | 1 | 320 | 0.0031 | 865 | c.*39 others(876): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 2454 | chr20 | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63486870 | C | CCTGCATC others(858): Show |
downstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 374 | 0.0027 | 865 | c.*14 others(876): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1143 | chr20 | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63486887 | C | CCTGCCCA others(858): Show |
downstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 374 | 0.0027 | 865 | c.*14 others(876): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1126 | chr20 | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63487068 | T | TCCTCCAC others(858): Show |
downstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 374 | 0.0027 | 865 | c.*12 others(876): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 945 | chr20 | TogoVar | ||||||
FCMR_chr1_206898317_206926941 | 206924611 | T | TGAGTGTG others(858): Show |
upstream_gene_variant | MODIFIER | NA18947.hp1 NA18979.hp1 NA18989.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0159a0001c0001t0001g0160a0001c0001t0001g0161others(1): Show | 5 | 380 | 0.0132 | 865 | c.-27 others(876): Show |
FCMR | ENSG00000162894.12 | transcript | ENST00000367091.8 | protein_coding | 2671 | chr1 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322309 | A | ATATATGC others(858): Show |
upstream_gene_variant | MODIFIER | HG01071.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 323 | 0.0031 | 865 | c.-27 others(876): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2660 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322337 | A | ATATATGC others(858): Show |
upstream_gene_variant | MODIFIER | HG01106.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 323 | 0.0031 | 865 | c.-27 others(876): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2632 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322337 | A | ATATATGC others(858): Show |
upstream_gene_variant | MODIFIER | HG02683.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 323 | 0.0031 | 865 | c.-27 others(876): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2632 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323136 | T | TATATATA others(858): Show |
upstream_gene_variant | MODIFIER | NA18955.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0237 | 1 | 323 | 0.0031 | 865 | c.-19 others(876): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1833 | chr21 | TogoVar | ||||||
INPP5A_chr10_132532787_132788480 | 132775188 | G | GGGGCAGG others(858): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 204 | 0.0049 | 865 | c.978 others(882): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
JUND_chr19_18274694_18286622 | 18284520 | A | AAATAATA others(858): Show |
upstream_gene_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 408 | 0.0025 | 865 | c.-30 others(876): Show |
JUND | ENSG00000130522.6 | transcript | ENST00000252818.5 | protein_coding | 2899 | chr19 | TogoVar | ||||||
JUND_chr19_18274694_18286622 | 18284520 | A | AAATAATA others(858): Show |
upstream_gene_variant | MODIFIER | NA18963.hp1 NA18985.hp2 NA19010.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013 | a0001c0001t0002g0000a0001c0001t0013g0000 | 3 | 408 | 0.0074 | 865 | c.-30 others(876): Show |
JUND | ENSG00000130522.6 | transcript | ENST00000252818.5 | protein_coding | 2899 | chr19 | TogoVar | ||||||
KDM2B_chr12_121424096_121586023 | 121514897 | C | CACCCCCA others(858): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00621.hp2 others(26): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0011 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0013a0001c0001t0001g0035a0001c0001t0001g0049others(26): Show | 29 | 270 | 0.1074 | 865 | c.104 others(884): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 9/22 | chr12 | TogoVar | ||||||
KDM2B_chr12_121424096_121586023 | 121514897 | C | CACCCCCA others(858): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0104a0001c0001t0002g0256 | 2 | 270 | 0.0074 | 865 | c.104 others(884): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 9/22 | chr12 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124471657 | A | ATATATTT others(858): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 260 | 0.0039 | 865 | c.125 others(882): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LHPP_chr10_124456823_124619141 | 124471657 | A | ATATATTT others(858): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 260 | 0.0039 | 865 | c.125 others(882): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LHPP_chr10_124456823_124619141 | 124471657 | A | ATATTTAT others(858): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 | 1 | 260 | 0.0039 | 865 | c.125 others(882): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LMF1_chr16_848634_975984 | 857568 | A | AGTGGTGT others(858): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0176 | 1 | 294 | 0.0034 | 865 | c.153 others(884): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 857623 | A | ACGGGACG others(858): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0183 | 1 | 294 | 0.0034 | 865 | c.153 others(884): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(858): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0009 | a0009c0009 | a0009c0009t0005 | a0009c0009t0005g0242 | 1 | 292 | 0.0034 | 865 | c.218 others(880): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(858): Show |
upstream_gene_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0100 | 1 | 318 | 0.0031 | 865 | c.-49 others(876): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGA others(858): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 272 | 0.0037 | 865 | c.250 others(880): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
OR11H4_chr14_20234286_20249349 | 20237775 | A | ATATATAG others(858): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079a0001c0001t0001g0254 | 2 | 439 | 0.0046 | 865 | c.-15 others(876): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1510 | chr14 | TogoVar | ||||||
P2RX5_chr17_3668227_3701155 | 3685993 | G | GAGAACAG others(858): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0237 | 1 | 362 | 0.0028 | 865 | c.981 others(882): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | ||||||
PARP10_chr8_143972158_143991460 | 143981395 | A | ATGATGGT others(858): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0231 | 1 | 380 | 0.0026 | 865 | c.255 others(884): Show |
PARP10 | ENSG00000178685.14 | transcript | ENST00000313028.12 | protein_coding | 9/10 | chr8 | TogoVar | ||||||
PDCD6_chr5_266646_319974 | 318049 | C | CCCTCCCC others(858): Show |
downstream_gene_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0046 | 1 | 360 | 0.0028 | 865 | c.*35 others(876): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3076 | chr5 | TogoVar | ||||||
PIGR_chr1_206923522_206951466 | 206924611 | T | TGAGTGTG others(858): Show |
downstream_gene_variant | MODIFIER | NA18979.hp2 NA18989.hp2 NA18995.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0042 | 4 | 402 | 0.0100 | 865 | c.*57 others(876): Show |
PIGR | ENSG00000162896.6 | transcript | ENST00000356495.5 | protein_coding | 3910 | chr1 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 398381 | C | CTACCCCC others(858): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0119 | 1 | 216 | 0.0046 | 865 | c.106 others(882): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PPP1R14C_chr6_150138044_150255392 | 150167965 | T | TCTTTCTC others(858): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0209 | 1 | 312 | 0.0032 | 865 | c.306 others(884): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(858): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0001 | 1 | 220 | 0.0046 | 865 | c.24+ others(882): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(858): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0008 | 1 | 220 | 0.0046 | 865 | c.24+ others(882): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30388398 | G | GCTTATAA others(858): Show |
intron_variant | MODIFIER | HG00741.hp1 NA19070.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0079a0001c0001t0005g0078 | 2 | 304 | 0.0066 | 865 | c.66+ others(880): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |