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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CCN4_chr8_133186039_133236690 | 133214070 | C | CACTATAT others(592): Show |
intron_variant | MODIFIER | NA18988.hp1 NA19068.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0289 a0001c0001t0002g0290 |
2 | 28 | 0.0714 | 599 | c.349 others(614): Show |
CCN4 | ENSG00000104415.14 | transcript | ENST00000250160.11 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CDC42SE2_chr5_131259053_131399672 | 131278741 | C | CCCCCTCC others(592): Show |
intron_variant | MODIFIER | NA19075.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0130 | 1 | 12 | 0.0833 | 599 | c.-45 others(620): Show |
CDC42SE2 | ENSG00000158985.14 | transcript | ENST00000505065.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61353603 | A | ACTGCCTT others(592): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0002 | a0002c0002 | a0002c0002t0023 | a0002c0002t0023g0102 | 1 | 4 | 0.2500 | 599 | c.169 others(618): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61353603 | A | ACTGCCTT others(592): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01106.hp1 HG01346.hp1 others(7): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0004others(4): Show | a0001c0001t0046a0002c0002t0004a0002c0002t0011others(7): Show | a0001c0001t0046g0062 a0002c0002t0004g0014 a0002c0002t0011g0082 others(7): Show |
10 | 13 | 0.7692 | 599 | c.169 others(618): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(592): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0052 | 1 | 2 | 0.5000 | 599 | c.162 others(620): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CTDP1_chr18_79674803_79759503 | 79687230 | A | ATGCACCG others(592): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02129.hp1 NA18948.hp1 others(2): Show |
a0004 | a0004c0004 | a0004c0004t0001a0004c0004t0009 | a0004c0004t0001g0320 a0004c0004t0001g0322 a0004c0004t0001g0323 others(2): Show |
5 | 272 | 0.0184 | 599 | c.314 others(616): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DCLK1_chr13_35763652_36136382 | 35958279 | T | TTACTACT others(592): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0170 | 1 | 137 | 0.0073 | 599 | c.724 others(618): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
EPHB2_chr1_22705839_22926500 | 22754841 | G | GGAGGTGA others(592): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01123.hp1 HG01123.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0031 a0001c0001t0001g0139 a0001c0001t0002g0032 others(6): Show |
9 | 73 | 0.1233 | 599 | c.62- others(616): Show |
EPHB2 | ENSG00000133216.17 | transcript | ENST00000374630.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EPHB2_chr1_22705839_22926500 | 22754841 | G | GGAGGTGA others(592): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0075 | 1 | 65 | 0.0154 | 599 | c.62- others(616): Show |
EPHB2 | ENSG00000133216.17 | transcript | ENST00000374630.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EXOC2_chr6_480154_698139 | 519116 | A | AAACCACC others(592): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014 | 1 | 175 | 0.0057 | 599 | c.238 others(620): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
FBN2_chr5_128252909_128543245 | 128539836 | T | TATGATAT others(592): Show |
upstream_gene_variant | MODIFIER | HG03491.hp1 | a0002 | a0002c0016 | a0002c0016t0002 | a0002c0016t0002g0044 | 1 | 202 | 0.0050 | 599 | c.-22 others(610): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1592 | chr5 | TogoVar | |||||||
FLT3_chr13_27998274_28105576 | 27999069 | G | GTATATAC others(592): Show |
downstream_gene_variant | MODIFIER | HG02683.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0113 | 1 | 168 | 0.0060 | 599 | c.*49 others(610): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4204 | chr13 | TogoVar | |||||||
GET4_chr7_871554_901436 | 889979 | G | GGGGTCTG others(592): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 325 | 0.0031 | 599 | c.467 others(614): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GPATCH2_chr1_217421992_217636090 | 217524869 | G | GGGAGAGG others(592): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0170 | 1 | 128 | 0.0078 | 599 | c.109 others(618): Show |
GPATCH2 | ENSG00000092978.11 | transcript | ENST00000366935.8 | protein_coding | 5/9 | chr1 | TogoVar | |||||||
IFI35_chr17_43001784_43019456 | 43017098 | G | GAGGTTGC others(592): Show |
downstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 80 | 0.0125 | 599 | c.*27 others(610): Show |
IFI35 | ENSG00000068079.8 | transcript | ENST00000415816.7 | protein_coding | 2643 | chr17 | TogoVar | |||||||
IFI35_chr17_43001784_43019456 | 43017098 | G | GAGGTTGC others(592): Show |
downstream_gene_variant | MODIFIER | HG00735.hp1 HG00741.hp2 HG01081.hp1 others(19): Show |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0001a0001c0001t0002a0006c0006t0002 | a0001c0001t0001g0002 a0001c0001t0002g0004 a0001c0001t0002g0052 others(10): Show |
22 | 101 | 0.2178 | 599 | c.*27 others(610): Show |
IFI35 | ENSG00000068079.8 | transcript | ENST00000415816.7 | protein_coding | 2643 | chr17 | TogoVar | |||||||
IFI35_chr17_43001784_43019456 | 43017098 | G | GAGGTTGC others(592): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG02257.hp1 HG02451.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 others(4): Show |
9 | 88 | 0.1023 | 599 | c.*27 others(610): Show |
IFI35 | ENSG00000068079.8 | transcript | ENST00000415816.7 | protein_coding | 2643 | chr17 | TogoVar | |||||||
IFI35_chr17_43001784_43019456 | 43017098 | G | GAGGTTGC others(592): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(214): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0007a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(64): Show |
217 | 296 | 0.7331 | 599 | c.*27 others(610): Show |
IFI35 | ENSG00000068079.8 | transcript | ENST00000415816.7 | protein_coding | 2643 | chr17 | TogoVar | |||||||
IFI35_chr17_43001784_43019456 | 43017098 | G | GAGGTTGC others(592): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 a0001c0001t0001g0115 |
2 | 81 | 0.0247 | 599 | c.*27 others(610): Show |
IFI35 | ENSG00000068079.8 | transcript | ENST00000415816.7 | protein_coding | 2643 | chr17 | TogoVar | |||||||
IFI35_chr17_43001784_43019456 | 43017098 | G | GAGGTTGC others(592): Show |
downstream_gene_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 80 | 0.0125 | 599 | c.*27 others(610): Show |
IFI35 | ENSG00000068079.8 | transcript | ENST00000415816.7 | protein_coding | 2643 | chr17 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33323151 | T | TATATACG others(592): Show |
upstream_gene_variant | MODIFIER | NA18998.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0231 | 1 | 302 | 0.0033 | 599 | c.-19 others(610): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1818 | chr21 | TogoVar | |||||||
IQCJ_chr3_159064319_159268747 | 159229707 | C | CCTCCTCC others(592): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0072 | 1 | 11 | 0.0909 | 599 | c.10- others(616): Show |
IQCJ | ENSG00000214216.11 | transcript | ENST00000397832.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 103862 | C | CGGGGCTC others(592): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0004 | a0004c0008 | a0004c0008t0048 | a0004c0008t0048g0201 | 1 | 100 | 0.0100 | 599 | c.623 others(616): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173125 | C | CCTCTCTC others(592): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0082 | 1 | 153 | 0.0065 | 599 | c.*11 others(620): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173147 | C | CCTCTCTC others(592): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02258.hp2 HG02922.hp1 |
a0002 | a0002c0005a0002c0010 | a0002c0005t0002a0002c0010t0009 | a0002c0005t0002g0060 a0002c0010t0009g0086 a0002c0010t0009g0087 |
3 | 143 | 0.0210 | 599 | c.*11 others(620): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173149 | T | TCTCTCCC others(592): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0016 | 1 | 144 | 0.0069 | 599 | c.*11 others(620): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KHSRP_chr19_6408102_6429811 | 6429376 | G | GGAAGGGA others(592): Show |
upstream_gene_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0060 | 1 | 5 | 0.2000 | 599 | c.-46 others(610): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4566 | chr19 | TogoVar | |||||||
KIF25_chr6_167992671_168050091 | 167997262 | G | GCGACGGG others(592): Show |
upstream_gene_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 357 | 0.0028 | 599 | c.-22 others(610): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 408 | chr6 | TogoVar | |||||||
KIF25_chr6_167992671_168050091 | 167997264 | G | GCGGGGGA others(592): Show |
upstream_gene_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 296 | 0.0034 | 599 | c.-22 others(610): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 406 | chr6 | TogoVar | |||||||
KRT82_chr12_52388931_52411335 | 52409039 | T | TCCTCTCC others(592): Show |
upstream_gene_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0049 | 1 | 77 | 0.0130 | 599 | c.-27 others(610): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2705 | chr12 | TogoVar | |||||||
LINGO2_chr9_27932617_29218601 | 28189713 | A | AAGGGAGG others(592): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0005 | 1 | 46 | 0.0217 | 599 | c.-36 others(620): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 6/6 | chr9 | TogoVar | |||||||
MEX3D_chr19_1549672_1573325 | 1550007 | C | CCCATCCA others(592): Show |
downstream_gene_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0126 | 1 | 191 | 0.0052 | 599 | c.*55 others(610): Show |
MEX3D | ENSG00000181588.17 | transcript | ENST00000402693.5 | protein_coding | 4664 | chr19 | TogoVar | |||||||
MEX3D_chr19_1549672_1573325 | 1550015 | C | CCTGTTCA others(592): Show |
downstream_gene_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0093 | 1 | 312 | 0.0032 | 599 | c.*55 others(610): Show |
MEX3D | ENSG00000181588.17 | transcript | ENST00000402693.5 | protein_coding | 4656 | chr19 | TogoVar | |||||||
MSR1_chr8_16102881_16197651 | 16189580 | T | TTTTATAT others(592): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 318 | 0.0031 | 599 | c.-5+ others(614): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
MYLK4_chr6_2658637_2755922 | 2694524 | G | GTGGTGAT others(592): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0153 | 1 | 4 | 0.2500 | 599 | c.160 others(616): Show |
MYLK4 | ENSG00000145949.12 | transcript | ENST00000274643.9 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTGTAC others(592): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0153 | 1 | 118 | 0.0085 | 599 | c.-75 others(618): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
NXN_chr17_794310_984776 | 948933 | C | CCCCCTGC others(592): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0109 | 1 | 235 | 0.0043 | 599 | c.360 others(618): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 949109 | G | GGCCTCCT others(592): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0240 | 1 | 162 | 0.0062 | 599 | c.360 others(618): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
OR6J1_chr14_22625929_22649352 | 22637550 | C | CCTGCCCG others(592): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02970.hp2 HG03453.hp2 others(2): Show |
a0002 | a0002c0002a0002c0017 | a0002c0002t0004a0002c0002t0020a0002c0002t0033others(1): Show | a0002c0002t0004g0174 a0002c0002t0020g0296 a0002c0002t0020g0298 others(2): Show |
5 | 199 | 0.0251 | 599 | c.-27 others(616): Show |
OR6J1 | ENSG00000255804.2 | transcript | ENST00000540461.2 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
OR6J1_chr14_22625929_22649352 | 22637550 | C | CCTGCCCG others(592): Show |
intron_variant | MODIFIER | HG03486.hp2 NA20129.hp1 |
a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0245 a0002c0002t0013g0246 |
2 | 196 | 0.0102 | 599 | c.-27 others(616): Show |
OR6J1 | ENSG00000255804.2 | transcript | ENST00000540461.2 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
OSBPL5_chr11_3082107_3170310 | 3097061 | A | AAGAGGGG others(592): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02965.hp1 HG03098.hp1 others(2): Show |
a0001a0010 | a0001c0002a0010c0027 | a0001c0002t0009a0001c0002t0025a0010c0027t0009 | a0001c0002t0009g0070 a0001c0002t0009g0138 a0001c0002t0009g0319 others(2): Show |
5 | 6 | 0.8333 | 599 | c.162 others(618): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 14/21 | chr11 | TogoVar | |||||||
PCNT_chr21_46319156_46450769 | 46413142 | A | ACCCGGGA others(592): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0045 | 1 | 66 | 0.0152 | 599 | c.615 others(616): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 29/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDCD6_chr5_266646_319974 | 318187 | A | ACCCTGCA others(592): Show |
downstream_gene_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 91 | 0.0110 | 599 | c.*36 others(610): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3214 | chr5 | TogoVar | |||||||
PLCB1_chr20_8127266_8889900 | 8662119 | T | TATATATA others(592): Show |
intron_variant | MODIFIER | NA19003.hp1 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0035 a0001c0001t0002g0011 |
2 | 26 | 0.0769 | 599 | c.862 others(616): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 9/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PPP1R14C_chr6_150138044_150255392 | 150167973 | T | TCCTTCTC others(592): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 67 | 0.0149 | 599 | c.306 others(618): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3351524 | G | GTCTCTCC others(592): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0009 | a0001c0009t0005 | a0001c0009t0005g0200 | 1 | 62 | 0.0161 | 599 | c.439 others(618): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3351532 | C | CCTCCTCT others(592): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0004 | a0001c0004t0010 | a0001c0004t0010g0174 | 1 | 148 | 0.0068 | 599 | c.439 others(618): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RFC1_chr4_39282456_39371362 | 39348424 | A | AAAAAGAA others(592): Show |
intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 | 1 | 81 | 0.0123 | 599 | c.132 others(616): Show |
RFC1 | ENSG00000035928.17 | transcript | ENST00000349703.7 | protein_coding | 2/24 | chr4 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130392313 | T | TCACATGT others(592): Show |
downstream_gene_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 159 | 0.0063 | 599 | c.*50 others(610): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 3819 | chr12 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 305049 | G | GGACAGGG others(592): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02895.hp1 NA18522.hp1 others(1): Show |
a0001a0002 | a0001c0003a0002c0012 | a0001c0003t0002a0001c0003t0018a0001c0003t0028others(1): Show | a0001c0003t0002g0059 a0001c0003t0018g0019 a0001c0003t0028g0088 others(1): Show |
4 | 132 | 0.0303 | 599 | c.351 others(618): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar |