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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TERT_chr5_1248167_1300068 | 1273788 | C | CCGATCAC others(925): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 | 1 | 98 | 0.0102 | 932 | c.228 others(951): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1447592 | A | ACACCATC others(926): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02280.hp1 HG02615.hp2 others(2): Show |
a0003a0007a0008 | a0003c0002a0007c0016a0008c0015 | a0003c0002t0001a0007c0016t0001a0008c0015t0001 | a0003c0002t0001g0168 a0007c0016t0001g0170 a0007c0016t0001g0171 others(2): Show |
5 | 183 | 0.0273 | 933 | c.93+ others(948): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 1/12 | chrX | TogoVar | |||||||
ATG10_chr5_81967023_82261133 | 82140160 | T | TGCCCGGC others(926): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01346.hp1 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0003a0001c0001t0009a0001c0001t0011others(4): Show | a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0009g0216 others(9): Show |
12 | 123 | 0.0976 | 933 | c.217 others(952): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82140160 | T | TGCCCGGC others(926): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0112 | 1 | 112 | 0.0089 | 933 | c.217 others(952): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82140160 | T | TGCCCGGC others(926): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG02451.hp1 others(9): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0004a0002c0002t0006others(4): Show | a0002c0002t0002g0126 a0002c0002t0004g0046 a0002c0002t0004g0082 others(9): Show |
12 | 123 | 0.0976 | 933 | c.217 others(952): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82140160 | T | TGCCCGGC others(926): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0125 | 1 | 112 | 0.0089 | 933 | c.217 others(952): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82140160 | T | TGCCCGGC others(926): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01255.hp2 HG01346.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0019a0002c0002t0004a0002c0002t0006others(1): Show | a0001c0001t0019g0118 a0002c0002t0004g0080 a0002c0002t0004g0121 others(9): Show |
12 | 123 | 0.0976 | 933 | c.217 others(952): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82140160 | T | TGCCCGGC others(926): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0052 | 1 | 112 | 0.0089 | 933 | c.217 others(952): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82140160 | T | TGCCCGGC others(926): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0055 | 1 | 112 | 0.0089 | 933 | c.217 others(952): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82140160 | T | TGCCCGGC others(926): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01081.hp1 HG01517.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0002others(4): Show | a0001c0001t0001g0108 a0001c0001t0003g0062 a0001c0001t0003g0110 others(11): Show |
14 | 125 | 0.1120 | 933 | c.217 others(952): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82140160 | T | TGCCCGGC others(926): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0051 | 1 | 112 | 0.0089 | 933 | c.217 others(952): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C8orf82_chr8_144520733_144534111 | 144531191 | A | AGAGCAGC others(926): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 235 | 0.0043 | 933 | c.-22 others(944): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2081 | chr8 | TogoVar | |||||||
CALY_chr10_133319072_133341896 | 133334339 | G | GGGGGAAG others(926): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 64 | 0.0156 | 933 | c.-21 others(950): Show |
CALY | ENSG00000130643.9 | transcript | ENST00000252939.9 | protein_coding | 1/5 | chr10 | TogoVar | |||||||
CNOT3_chr19_54132762_54160681 | 54133762 | C | CCTCTCTC others(926): Show |
upstream_gene_variant | MODIFIER | HG02683.hp1 | a0003 | a0003c0014 | a0003c0014t0001 | a0003c0014t0001g0044 | 1 | 195 | 0.0051 | 933 | c.-42 others(944): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3999 | chr19 | TogoVar | |||||||
CTU2_chr16_88701503_88720396 | 88713126 | T | TGAGAGCC others(926): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0037 | a0001c0037t0001 | a0001c0037t0001g0017 | 1 | 392 | 0.0026 | 933 | c.738 others(948): Show |
CTU2 | ENSG00000174177.13 | transcript | ENST00000453996.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DBNDD1_chr16_89999871_90024456 | 90008154 | G | GTCCCAAG others(926): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02257.hp2 HG02886.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0053 a0001c0001t0001g0145 others(1): Show |
6 | 225 | 0.0267 | 933 | c.319 others(948): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 3/3 | chr16 | TogoVar | |||||||
DBNDD1_chr16_89999871_90024456 | 90008154 | G | GTCCCAAG others(926): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02258.hp1 HG02280.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0127 a0001c0001t0001g0134 a0001c0001t0001g0140 others(7): Show |
10 | 229 | 0.0437 | 933 | c.319 others(948): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 3/3 | chr16 | TogoVar | |||||||
DBNDD1_chr16_89999871_90024456 | 90008154 | G | GTCCCAAG others(926): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 220 | 0.0045 | 933 | c.319 others(948): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 3/3 | chr16 | TogoVar | |||||||
DBNDD1_chr16_89999871_90024456 | 90008154 | G | GTCCCAAG others(926): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 220 | 0.0045 | 933 | c.319 others(948): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 3/3 | chr16 | TogoVar | |||||||
DBNDD1_chr16_89999871_90024456 | 90008154 | G | GTCCCAAG others(926): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 220 | 0.0045 | 933 | c.319 others(948): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 3/3 | chr16 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14635300 | A | AGGGAGCT others(926): Show |
intron_variant | MODIFIER | HG02735.hp1 HG03942.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0023a0001c0002t0002 | a0001c0001t0023g0123 a0001c0002t0002g0074 |
2 | 90 | 0.0222 | 933 | c.113 others(952): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 13/25 | chr7 | TogoVar | |||||||
GOLM1_chr9_86021146_86104558 | 86053539 | C | CCACACCA others(926): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00738.hp1 others(13): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0002a0001c0004t0002 | a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0167 others(13): Show |
16 | 25 | 0.6400 | 933 | c.310 others(948): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 3/9 | chr9 | TogoVar | |||||||
GOLM1_chr9_86021146_86104558 | 86053539 | C | CCACACCA others(926): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235 | 1 | 10 | 0.1000 | 933 | c.310 others(948): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 3/9 | chr9 | TogoVar | |||||||
GOLM1_chr9_86021146_86104558 | 86053539 | C | CCACACCA others(926): Show |
intron_variant | MODIFIER | HG02723.hp2 NA19240.hp1 |
a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0133 a0002c0002t0010g0134 |
2 | 11 | 0.1818 | 933 | c.310 others(948): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 3/9 | chr9 | TogoVar | |||||||
GPIHBP1_chr8_143208218_143222170 | 143218369 | C | CAACACCA others(926): Show |
downstream_gene_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0004 | a0001c0004t0018 | a0001c0004t0018g0004 | 1 | 101 | 0.0099 | 933 | c.*28 others(944): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1200 | chr8 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(926): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 132 | 0.0076 | 933 | c.94- others(946): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(926): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0058 | 1 | 132 | 0.0076 | 933 | c.94- others(946): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(926): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0065 | 1 | 132 | 0.0076 | 933 | c.94- others(946): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(926): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0067 | 1 | 132 | 0.0076 | 933 | c.94- others(946): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(926): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0061 | 1 | 132 | 0.0076 | 933 | c.94- others(946): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10399217 | C | CCACCACC others(926): Show |
intron_variant | MODIFIER | HG02615.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011 | a0001c0001t0003g0300 a0001c0001t0011g0149 |
2 | 291 | 0.0069 | 933 | c.-25 others(950): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
IFT140_chr16_1505427_1617072 | 1599469 | T | TGGGGGGG others(926): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0030 | 1 | 328 | 0.0030 | 933 | c.369 others(950): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 4/30 | chr16 | TogoVar | |||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(926): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 5 | 0.2000 | 933 | c.-41 others(948): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997183 | T | TGGGGGCG others(926): Show |
upstream_gene_variant | MODIFIER | HG01167.hp2 HG02895.hp2 |
a0006a0009 | a0006c0008a0009c0013 | a0006c0008t0016a0009c0013t0016 | a0006c0008t0016g0169 a0009c0013t0016g0168 |
2 | 361 | 0.0055 | 933 | c.-22 others(944): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 487 | chr6 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62349741 | T | TGGTGGGG others(926): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0013 | a0013c0019 | a0013c0019t0001 | a0013c0019t0001g0111 | 1 | 31 | 0.0323 | 933 | c.956 others(950): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | |||||||
LINGO2_chr9_27932617_29218601 | 28189681 | A | AAGGGAGG others(926): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 51 | 0.0196 | 933 | c.-36 others(954): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 6/6 | chr9 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859506 | C | CAGTGGTG others(926): Show |
intron_variant | MODIFIER | HG03130.hp1 HG06807.hp1 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0037 a0001c0005t0001g0068 |
2 | 284 | 0.0070 | 933 | c.153 others(952): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LRRC24_chr8_144517388_144532033 | 144531191 | A | AGAGCAGC others(926): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 234 | 0.0043 | 933 | c.-42 others(944): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4159 | chr8 | TogoVar | |||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(926): Show |
intron_variant | MODIFIER | NA18965.hp2 | a0003 | a0003c0026 | a0003c0026t0002 | a0003c0026t0002g0263 | 1 | 8 | 0.1250 | 933 | c.115 others(950): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39926745 | G | GAAGGAGG others(926): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 213 | 0.0047 | 933 | c.250 others(948): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195760494 | G | GGGGCTGG others(926): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0083 | a0083c0116 | a0083c0116t0008 | a0083c0116t0008g0068 | 1 | 246 | 0.0041 | 933 | c.148 others(952): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 16/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195767745 | T | TCACCACC others(926): Show |
intron_variant | MODIFIER | HG03041.hp2 NA19043.hp1 |
a0021 | a0021c0024 | a0021c0024t0004 | a0021c0024t0004g0232 a0021c0024t0004g0233 |
2 | 246 | 0.0081 | 933 | c.135 others(952): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 7/24 | chr3 | TogoVar | |||||||
NT5C1A_chr1_39646229_39677107 | 39664497 | T | TCCTCTCC others(926): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 | 1 | 30 | 0.0333 | 933 | c.433 others(950): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
NYNRIN_chr14_24394003_24424283 | 24406247 | A | AAAATAAA others(926): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0205 | 1 | 447 | 0.0022 | 933 | c.199 others(950): Show |
NYNRIN | ENSG00000205978.6 | transcript | ENST00000382554.4 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(926): Show |
downstream_gene_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 122 | 0.0082 | 933 | c.*70 others(944): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | |||||||
PCSK6_chr15_101298933_101494707 | 101311836 | C | CCCCTCAC others(926): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 283 | 0.0035 | 933 | c.269 others(952): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 20/21 | chr15 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(926): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0049 | a0049c0050 | a0049c0050t0001 | a0049c0050t0001g0269 | 1 | 24 | 0.0417 | 933 | c.371 others(950): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51982182 | A | AGGTGGGG others(926): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0012 | a0012c0029 | a0012c0029t0002 | a0012c0029t0002g0010 | 1 | 43 | 0.0233 | 933 | c.575 others(954): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | |||||||
PRPF31_chr19_54110754_54136713 | 54133762 | C | CCTCTCTC others(926): Show |
downstream_gene_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 194 | 0.0052 | 933 | c.*23 others(944): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2050 | chr19 | TogoVar | |||||||
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(926): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 126 | 0.0079 | 933 | c.45- others(948): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |