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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FLT4_chr5_180596506_180654600 | 180635661 | A | AAGTATGG others(689): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0002 | a0002c0003 | a0002c0003t0010 | a0002c0003t0010g0179 | 1 | 283 | 0.0035 | 696 | c.59- others(711): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 1/29 | chr5 | TogoVar | |||||||
FLT4_chr5_180596506_180654600 | 180635677 | A | AAGTATGG others(689): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0021 | a0021c0042 | a0021c0042t0028 | a0021c0042t0028g0378 | 1 | 370 | 0.0027 | 696 | c.59- others(711): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 1/29 | chr5 | TogoVar | |||||||
FUT7_chr9_137025174_137037088 | 137034336 | G | GGGGGGGT others(689): Show |
upstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 34 | 0.0294 | 696 | c.-23 others(707): Show |
FUT7 | ENSG00000180549.8 | transcript | ENST00000314412.7 | protein_coding | 2249 | chr9 | TogoVar | |||||||
GAS6_chr13_113815549_113869076 | 113817317 | T | TCCTCCCC others(689): Show |
downstream_gene_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 58 | 0.0172 | 696 | c.*35 others(707): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 3231 | chr13 | TogoVar | |||||||
GAS6_chr13_113815549_113869076 | 113817317 | T | TCCTCCCC others(689): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 58 | 0.0172 | 696 | c.*35 others(707): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 3231 | chr13 | TogoVar | |||||||
GPR173_chrX_53043789_53085615 | 53073906 | T | TATATAAA others(689): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 95 | 0.0105 | 696 | c.-97 others(713): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GRAMD1B_chr11_123425269_123632767 | 123584374 | T | TGGGAGGG others(689): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0015 | a0001c0015t0007 | a0001c0015t0007g0125 | 1 | 130 | 0.0077 | 696 | c.684 others(709): Show |
GRAMD1B | ENSG00000023171.20 | transcript | ENST00000635736.2 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GREB1_chr2_11529045_11647788 | 11637073 | G | GGGGCAGG others(689): Show |
intron_variant | MODIFIER | NA18962.hp1 NA19056.hp2 |
a0001a0051 | a0001c0001a0051c0096 | a0001c0001t0005a0051c0096t0005 | a0001c0001t0005g0055 a0051c0096t0005g0074 |
2 | 227 | 0.0088 | 696 | c.534 others(713): Show |
GREB1 | ENSG00000196208.14 | transcript | ENST00000381486.7 | protein_coding | 30/32 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GREB1_chr2_11529045_11647788 | 11637073 | G | GGGGCAGG others(689): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00673.hp2 HG01192.hp2 others(23): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0013a0002c0005others(10): Show | a0001c0001t0005a0001c0001t0011a0001c0001t0030others(16): Show | a0001c0001t0005g0139 a0001c0001t0005g0168 a0001c0001t0011g0216 others(23): Show |
26 | 251 | 0.1036 | 696 | c.534 others(713): Show |
GREB1 | ENSG00000196208.14 | transcript | ENST00000381486.7 | protein_coding | 30/32 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HCN2_chr19_584881_622159 | 602360 | T | TCTCTCCT others(689): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0032 | a0001c0032t0004 | a0001c0032t0004g0375 | 1 | 212 | 0.0047 | 696 | c.633 others(713): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
INPP5A_chr10_132532787_132788480 | 132622895 | C | CGTTCGTG others(689): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0061 | 1 | 22 | 0.0455 | 696 | c.117 others(715): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
INS_chr11_2154779_2166209 | 2161678 | G | GGACCCCT others(689): Show |
upstream_gene_variant | MODIFIER | HG02258.hp2 HG02809.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0002a0003c0004t0002 | a0001c0001t0002g0006 a0003c0004t0002g0022 |
2 | 269 | 0.0074 | 696 | c.-52 others(705): Show |
INS | ENSG00000254647.7 | transcript | ENST00000381330.5 | protein_coding | 470 | chr11 | TogoVar | |||||||
INS_chr11_2154779_2166209 | 2161678 | G | GGACCCCT others(689): Show |
upstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 1 | 268 | 0.0037 | 696 | c.-52 others(705): Show |
INS | ENSG00000254647.7 | transcript | ENST00000381330.5 | protein_coding | 470 | chr11 | TogoVar | |||||||
KDM4B_chr19_4964113_5158598 | 5076200 | C | CGAGAGCG others(689): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0002 | 1 | 187 | 0.0053 | 696 | c.677 others(713): Show |
KDM4B | ENSG00000127663.15 | transcript | ENST00000159111.9 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
KIF3B_chr20_32272651_32340011 | 32323070 | T | TTATATAC others(689): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02280.hp1 HG02922.hp1 |
a0001 | a0001c0003 | a0001c0003t0010a0001c0003t0022 | a0001c0003t0010g0083 a0001c0003t0010g0084 a0001c0003t0022g0085 |
3 | 192 | 0.0156 | 696 | c.174 others(715): Show |
KIF3B | ENSG00000101350.8 | transcript | ENST00000375712.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124471657 | A | ATATTTAT others(689): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 80 | 0.0125 | 696 | c.125 others(713): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 859664 | C | CGGGTGTG others(689): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02559.hp2 HG02723.hp2 |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0002t0001a0001c0006t0001 | a0001c0001t0001g0024 a0001c0002t0001g0086 a0001c0006t0001g0290 |
3 | 190 | 0.0158 | 696 | c.153 others(715): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859664 | C | CGGGTGTG others(689): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0272 | 1 | 188 | 0.0053 | 696 | c.153 others(715): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859664 | C | CGGGTGTG others(689): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0003 | a0003c0015 | a0003c0015t0001 | a0003c0015t0001g0011 | 1 | 188 | 0.0053 | 696 | c.153 others(715): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859664 | C | CGGGTGTG others(689): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0021 | 1 | 188 | 0.0053 | 696 | c.153 others(715): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859736 | C | CGGGTGTG others(689): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 32 | 0.0313 | 696 | c.153 others(715): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LRP5_chr11_68307591_68454275 | 68443451 | T | TTGCACTC others(689): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0054 | 1 | 180 | 0.0056 | 696 | c.448 others(715): Show |
LRP5 | ENSG00000162337.12 | transcript | ENST00000294304.12 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3583762 | A | ACCAGACA others(689): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0029 | a0029c0047 | a0029c0047t0011 | a0029c0047t0011g0094 | 1 | 83 | 0.0120 | 696 | c.377 others(713): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3583762 | A | ACCAGACA others(689): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 83 | 0.0120 | 696 | c.377 others(713): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3583762 | A | ACCAGACA others(689): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 83 | 0.0120 | 696 | c.377 others(713): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3583762 | A | ACCAGACA others(689): Show |
intron_variant | MODIFIER | NA18975.hp2 NA19070.hp1 |
a0008a0010 | a0008c0021a0010c0010 | a0008c0021t0001a0010c0010t0001 | a0008c0021t0001g0182 a0010c0010t0001g0225 |
2 | 84 | 0.0238 | 696 | c.377 others(713): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3583762 | A | ACCAGACA others(689): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 83 | 0.0120 | 696 | c.377 others(713): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3583762 | A | ACCAGACA others(689): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0019 | 1 | 83 | 0.0120 | 696 | c.377 others(713): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3583762 | A | ACCAGACA others(689): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0098 | a0098c0122 | a0098c0122t0009 | a0098c0122t0009g0244 | 1 | 83 | 0.0120 | 696 | c.377 others(713): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3583762 | A | ACCAGACA others(689): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0007 | a0007c0008 | a0007c0008t0014 | a0007c0008t0014g0002 | 1 | 83 | 0.0120 | 696 | c.377 others(713): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | |||||||
MLPH_chr2_237482251_237560322 | 237543923 | G | GGGGACAG others(689): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0076 | 1 | 278 | 0.0036 | 696 | c.153 others(715): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(689): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0016 | 1 | 8 | 0.1250 | 696 | c.250 others(711): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(689): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0228 | 1 | 8 | 0.1250 | 696 | c.250 others(711): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
MROH1_chr8_144143016_144266926 | 144218796 | C | CCCGTCTC others(689): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0017 | a0001c0017t0001 | a0001c0017t0001g0056 | 1 | 137 | 0.0073 | 696 | c.114 others(715): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MTO1_chr6_73456737_73514236 | 73506914 | C | CCTGACCT others(689): Show |
3_prime_UTR_variant | MODIFIER | HG02622.hp2 HG02717.hp2 HG02922.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0097a0001c0001t0099 | a0001c0001t0025g0140 a0001c0001t0025g0141 a0001c0001t0025g0142 others(2): Show |
5 | 49 | 0.1020 | 696 | c.*61 others(707): Show |
MTO1 | ENSG00000135297.17 | transcript | ENST00000498286.6 | protein_coding | 12/12 | 6200 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MTO1_chr6_73456737_73514236 | 73506914 | C | CCTGACCT others(689): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(150): Show |
a0001a0003a0006 | a0001c0001a0003c0008a0006c0004 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(42): Show | a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0130 others(145): Show |
153 | 197 | 0.7767 | 696 | c.*61 others(707): Show |
MTO1 | ENSG00000135297.17 | transcript | ENST00000498286.6 | protein_coding | 12/12 | 6200 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MTO1_chr6_73456737_73514236 | 73506914 | C | CCTGACCT others(689): Show |
3_prime_UTR_variant | MODIFIER | HG01884.hp1 HG02165.hp1 HG02273.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0103a0001c0002t0021a0001c0002t0029others(6): Show | a0001c0001t0103g0008 a0001c0002t0021g0071 a0001c0002t0021g0080 others(11): Show |
14 | 58 | 0.2414 | 696 | c.*61 others(707): Show |
MTO1 | ENSG00000135297.17 | transcript | ENST00000498286.6 | protein_coding | 12/12 | 6200 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MTO1_chr6_73456737_73514236 | 73506914 | C | CCTGACCT others(689): Show |
3_prime_UTR_variant | MODIFIER | HG00544.hp2 HG00639.hp2 HG00673.hp2 others(92): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0009others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0010others(27): Show | a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0008 others(85): Show |
95 | 139 | 0.6835 | 696 | c.*61 others(707): Show |
MTO1 | ENSG00000135297.17 | transcript | ENST00000498286.6 | protein_coding | 12/12 | 6200 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MTO1_chr6_73456737_73514236 | 73506914 | C | CCTGACCT others(689): Show |
3_prime_UTR_variant | MODIFIER | HG02257.hp1 HG02717.hp1 HG02896.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0020a0001c0002t0028a0001c0002t0123 | a0001c0002t0020g0072 a0001c0002t0020g0075 a0001c0002t0020g0076 others(5): Show |
8 | 52 | 0.1538 | 696 | c.*61 others(707): Show |
MTO1 | ENSG00000135297.17 | transcript | ENST00000498286.6 | protein_coding | 12/12 | 6200 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MUSK_chr9_110663791_110811558 | 110690451 | A | AATATATA others(689): Show |
intron_variant | MODIFIER | HG02698.hp2 HG03491.hp2 |
a0003a0005 | a0003c0003a0005c0005 | a0003c0003t0004a0005c0005t0008 | a0003c0003t0004g0183 a0005c0005t0008g0185 |
2 | 157 | 0.0127 | 696 | c.358 others(713): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NXN_chr17_794310_984776 | 841677 | A | ACCCTGAC others(689): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 207 | 0.0048 | 696 | c.361 others(715): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 948826 | G | GGCCTCCT others(689): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0022 | 1 | 222 | 0.0045 | 696 | c.360 others(715): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196811226 | T | TTCCCTTC others(689): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0122 | 1 | 149 | 0.0067 | 696 | c.773 others(711): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100451775 | C | CCTCTGAA others(689): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 172 | 0.0058 | 696 | c.189 others(715): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PCED1A_chr20_2830314_2845655 | 2842844 | C | CTATAGAT others(689): Show |
upstream_gene_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 182 | 0.0055 | 696 | c.-26 others(707): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2190 | chr20 | TogoVar | |||||||
PCED1A_chr20_2830314_2845655 | 2842844 | C | CTATAGAT others(689): Show |
upstream_gene_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 182 | 0.0055 | 696 | c.-26 others(707): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2190 | chr20 | TogoVar | |||||||
PCED1A_chr20_2830314_2845655 | 2842844 | C | CTATAGAT others(689): Show |
upstream_gene_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 182 | 0.0055 | 696 | c.-26 others(707): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2190 | chr20 | TogoVar | |||||||
PLA2G4C_chr19_48042846_48115817 | 48043533 | C | CCACCACC others(689): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 HG02165.hp2 HG03239.hp2 others(6): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0004a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0004t0002others(4): Show | a0001c0001t0001g0060 a0001c0001t0002g0256 a0002c0004t0002g0193 others(6): Show |
9 | 148 | 0.0608 | 696 | c.*48 others(707): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 4312 | chr19 | TogoVar | |||||||
PLCB1_chr20_8127266_8889900 | 8662119 | T | TAATTATA others(689): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0011 | a0001c0011t0003 | a0001c0011t0003g0052 | 1 | 25 | 0.0400 | 696 | c.862 others(713): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 9/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PLCB1_chr20_8127266_8889900 | 8662119 | T | TATAATTA others(689): Show |
intron_variant | MODIFIER | HG01261.hp1 NA20752.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0018a0001c0003t0003 | a0001c0001t0018g0066 a0001c0003t0003g0047 |
2 | 26 | 0.0769 | 696 | c.862 others(713): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 9/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |