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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KIF25_chr6_167992671_168050091 | 167997285 | G | GGGGCGGG others(493): Show |
upstream_gene_variant | MODIFIER | HG02155.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0231 | 1 | 351 | 0.0028 | 500 | c.-21 others(511): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 385 | chr6 | TogoVar | |||||||
KIF25_chr6_167992671_168050091 | 168035444 | A | AGGCGGGG others(493): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0078 | 1 | 60 | 0.0167 | 500 | c.317 others(517): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LKAAEAR1_chr20_64078376_64089398 | 64088840 | G | GGATCTGT others(493): Show |
upstream_gene_variant | MODIFIER | HG01074.hp1 HG01167.hp2 HG01169.hp2 others(27): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0003c0004t0002 | a0001c0001t0001g0001 a0001c0001t0002g0002 a0003c0004t0002g0007 |
30 | 93 | 0.3226 | 500 | c.-46 others(511): Show |
LKAAEAR1 | ENSG00000171695.11 | transcript | ENST00000302096.5 | protein_coding | 4443 | chr20 | TogoVar | |||||||
LPCAT1_chr5_1456427_1528960 | 1483742 | G | GAGCTGGA others(493): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0220 | 1 | 213 | 0.0047 | 500 | c.668 others(515): Show |
LPCAT1 | ENSG00000153395.10 | transcript | ENST00000283415.4 | protein_coding | 5/13 | chr5 | TogoVar | |||||||
LRP5_chr11_68307591_68454275 | 68428943 | A | AAAAAAAG others(493): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0003 | a0003c0024 | a0003c0024t0001 | a0003c0024t0001g0019 | 1 | 61 | 0.0164 | 500 | c.363 others(517): Show |
LRP5 | ENSG00000162337.12 | transcript | ENST00000294304.12 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LRP5_chr11_68307591_68454275 | 68428943 | A | AAAAAAGC others(493): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG02071.hp1 others(10): Show |
a0001a0002a0004others(1): Show | a0001c0007a0001c0020a0002c0003others(3): Show | a0001c0007t0001a0001c0020t0001a0002c0003t0001others(3): Show | a0001c0007t0001g0008 a0001c0007t0001g0016 a0001c0007t0001g0017 others(10): Show |
13 | 73 | 0.1781 | 500 | c.363 others(517): Show |
LRP5 | ENSG00000162337.12 | transcript | ENST00000294304.12 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LRP5_chr11_68307591_68454275 | 68428943 | A | AAAAAGCC others(493): Show |
intron_variant | MODIFIER | HG01256.hp1 NA18975.hp1 |
a0002a0006 | a0002c0003a0006c0018 | a0002c0003t0001a0006c0018t0001 | a0002c0003t0001g0131 a0006c0018t0001g0050 |
2 | 62 | 0.0323 | 500 | c.363 others(517): Show |
LRP5 | ENSG00000162337.12 | transcript | ENST00000294304.12 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LRP5_chr11_68307591_68454275 | 68428943 | A | AAAAAGCC others(493): Show |
intron_variant | MODIFIER | NA18988.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0060 | 1 | 61 | 0.0164 | 500 | c.363 others(517): Show |
LRP5 | ENSG00000162337.12 | transcript | ENST00000294304.12 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364837 | C | CCCACACT others(493): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0013 | a0001c0013t0007 | a0001c0013t0007g0091 | 1 | 265 | 0.0038 | 500 | c.129 others(517): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LRRC36_chr16_67321815_67390204 | 67341007 | G | GTATTCTA others(493): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01106.hp1 HG01109.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 a0001c0001t0001g0086 a0001c0001t0001g0122 others(5): Show |
8 | 31 | 0.2581 | 500 | c.71- others(513): Show |
LRRC36 | ENSG00000159708.18 | transcript | ENST00000329956.11 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MBNL3_chrX_132364320_132494038 | 132396681 | T | TATATATT others(493): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0106 | 1 | 159 | 0.0063 | 500 | c.343 others(517): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 3/8 | chrX | TogoVar | |||||||
MBNL3_chrX_132364320_132494038 | 132396705 | T | TATATATA others(493): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 155 | 0.0065 | 500 | c.343 others(517): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 3/8 | chrX | TogoVar | |||||||
MGRN1_chr16_4619826_4695972 | 4648509 | G | GCTCCTCC others(493): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0004 | a0001c0004t0029 | a0001c0004t0029g0083 | 1 | 330 | 0.0030 | 500 | c.89- others(515): Show |
MGRN1 | ENSG00000102858.13 | transcript | ENST00000262370.12 | protein_coding | 1/16 | chr16 | TogoVar | |||||||
MMS22L_chr6_97137161_97288216 | 97238854 | A | AGGCTGGA others(493): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0245 | 1 | 153 | 0.0065 | 500 | c.118 others(519): Show |
MMS22L | ENSG00000146263.12 | transcript | ENST00000683635.1 | protein_coding | 11/24 | chr6 | TogoVar | |||||||
MMS22L_chr6_97137161_97288216 | 97238854 | A | AGGCTGGA others(493): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0002 | a0002c0002 | a0002c0002t0065 | a0002c0002t0065g0174 | 1 | 153 | 0.0065 | 500 | c.118 others(519): Show |
MMS22L | ENSG00000146263.12 | transcript | ENST00000683635.1 | protein_coding | 11/24 | chr6 | TogoVar | |||||||
MMS22L_chr6_97137161_97288216 | 97238854 | A | AGGCTGGA others(493): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG00642.hp1 others(55): Show |
a0001a0013 | a0001c0001a0013c0021 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(8): Show | a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 others(55): Show |
58 | 210 | 0.2762 | 500 | c.118 others(519): Show |
MMS22L | ENSG00000146263.12 | transcript | ENST00000683635.1 | protein_coding | 11/24 | chr6 | TogoVar | |||||||
MMS22L_chr6_97137161_97288216 | 97238854 | A | AGGCTGGA others(493): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02280.hp2 HG02647.hp2 others(1): Show |
a0005 | a0005c0008a0005c0009 | a0005c0008t0017a0005c0009t0018 | a0005c0008t0017g0005 a0005c0008t0017g0006 a0005c0009t0018g0007 others(1): Show |
4 | 156 | 0.0256 | 500 | c.118 others(519): Show |
MMS22L | ENSG00000146263.12 | transcript | ENST00000683635.1 | protein_coding | 11/24 | chr6 | TogoVar | |||||||
MMS22L_chr6_97137161_97288216 | 97238854 | A | AGGCTGGA others(493): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0186 | 1 | 153 | 0.0065 | 500 | c.118 others(519): Show |
MMS22L | ENSG00000146263.12 | transcript | ENST00000683635.1 | protein_coding | 11/24 | chr6 | TogoVar | |||||||
MMS22L_chr6_97137161_97288216 | 97238854 | A | AGGCTGGA others(493): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0179 | 1 | 153 | 0.0065 | 500 | c.118 others(519): Show |
MMS22L | ENSG00000146263.12 | transcript | ENST00000683635.1 | protein_coding | 11/24 | chr6 | TogoVar | |||||||
MMS22L_chr6_97137161_97288216 | 97238854 | A | AGGCTGGA others(493): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(69): Show |
a0001a0009a0010 | a0001c0001a0009c0020a0010c0011 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(22): Show | a0001c0001t0001g0011 a0001c0001t0001g0027 a0001c0001t0003g0001 others(67): Show |
72 | 224 | 0.3214 | 500 | c.118 others(519): Show |
MMS22L | ENSG00000146263.12 | transcript | ENST00000683635.1 | protein_coding | 11/24 | chr6 | TogoVar | |||||||
MSLN_chr16_755734_773862 | 767619 | G | GGCGTGGA others(493): Show |
intron_variant | MODIFIER | HG01975.hp1 HG01981.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0128 a0001c0001t0005g0217 |
2 | 219 | 0.0091 | 500 | c.159 others(517): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MYNN_chr3_169768396_169794716 | 169770602 | A | AATATAAA others(493): Show |
upstream_gene_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 196 | 0.0051 | 500 | c.-28 others(511): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2793 | chr3 | TogoVar | |||||||
MYNN_chr3_169768396_169794716 | 169770602 | A | AATATAAA others(493): Show |
upstream_gene_variant | MODIFIER | NA18959.hp1 NA19072.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 a0001c0002t0002g0045 |
2 | 197 | 0.0102 | 500 | c.-28 others(511): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2793 | chr3 | TogoVar | |||||||
NCAPG2_chr7_158626169_158709804 | 158648682 | C | CCACGCCA others(493): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0100 | 1 | 276 | 0.0036 | 500 | c.307 others(519): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 24/27 | chr7 | TogoVar | |||||||
NCAPG2_chr7_158626169_158709804 | 158648682 | C | CCACGCCA others(493): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00558.hp1 others(44): Show |
a0001a0019 | a0001c0001a0001c0004a0019c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0027 a0001c0001t0002g0002 a0001c0001t0002g0015 others(43): Show |
47 | 322 | 0.1460 | 500 | c.307 others(519): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 24/27 | chr7 | TogoVar | |||||||
NCAPG2_chr7_158626169_158709804 | 158648682 | C | CCACGCCA others(493): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02155.hp2 NA18954.hp1 |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0184 a0001c0004t0002g0185 a0001c0004t0002g0186 |
3 | 278 | 0.0108 | 500 | c.307 others(519): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 24/27 | chr7 | TogoVar | |||||||
NCAPG2_chr7_158626169_158709804 | 158648682 | C | CCACGCCA others(493): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0187 | 1 | 276 | 0.0036 | 500 | c.307 others(519): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 24/27 | chr7 | TogoVar | |||||||
NCAPG2_chr7_158626169_158709804 | 158648682 | C | CCACGCCA others(493): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0066 | 1 | 276 | 0.0036 | 500 | c.307 others(519): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 24/27 | chr7 | TogoVar | |||||||
NCAPG2_chr7_158626169_158709804 | 158648682 | C | CCATGCCA others(493): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0046 | 1 | 276 | 0.0036 | 500 | c.307 others(519): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 24/27 | chr7 | TogoVar | |||||||
NCAPG2_chr7_158626169_158709804 | 158648759 | C | CAACCACG others(493): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00733.hp1 HG01109.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 a0001c0001t0002g0017 a0001c0001t0002g0037 others(2): Show |
5 | 278 | 0.0180 | 500 | c.307 others(519): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 24/27 | chr7 | TogoVar | |||||||
NCAPG2_chr7_158626169_158709804 | 158648759 | C | CAACCACG others(493): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01123.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0051 a0001c0001t0002g0055 |
2 | 275 | 0.0073 | 500 | c.307 others(519): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 24/27 | chr7 | TogoVar | |||||||
NCAPG2_chr7_158626169_158709804 | 158648787 | C | CCAAATGG others(493): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020 | 1 | 210 | 0.0048 | 500 | c.307 others(519): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 24/27 | chr7 | TogoVar | |||||||
NCAPG2_chr7_158626169_158709804 | 158648787 | C | CCAAATGG others(493): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0016 | a0016c0010 | a0016c0010t0002 | a0016c0010t0002g0035 | 1 | 210 | 0.0048 | 500 | c.307 others(519): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 24/27 | chr7 | TogoVar | |||||||
NCAPG2_chr7_158626169_158709804 | 158648787 | C | CCAAATGG others(493): Show |
intron_variant | MODIFIER | NA18993.hp2 NA19006.hp1 NA19007.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0138 others(1): Show |
4 | 213 | 0.0188 | 500 | c.307 others(519): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 24/27 | chr7 | TogoVar | |||||||
NCAPG2_chr7_158626169_158709804 | 158648787 | C | CCAAATGG others(493): Show |
intron_variant | MODIFIER | HG02015.hp2 HG02273.hp1 HG03688.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0116 a0001c0001t0002g0009 a0001c0001t0002g0049 others(2): Show |
5 | 214 | 0.0234 | 500 | c.307 others(519): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 24/27 | chr7 | TogoVar | |||||||
NCAPG2_chr7_158626169_158709804 | 158648787 | C | CCAAATGG others(493): Show |
intron_variant | MODIFIER | NA18947.hp2 NA18986.hp2 NA19058.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0048 a0001c0001t0002g0057 a0001c0001t0002g0115 |
3 | 212 | 0.0142 | 500 | c.307 others(519): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 24/27 | chr7 | TogoVar | |||||||
NCAPG2_chr7_158626169_158709804 | 158648787 | C | CCAAATGG others(493): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 210 | 0.0048 | 500 | c.307 others(519): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 24/27 | chr7 | TogoVar | |||||||
NCAPG2_chr7_158626169_158709804 | 158648819 | C | CAACCACG others(493): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0142 | 1 | 215 | 0.0047 | 500 | c.307 others(519): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 24/27 | chr7 | TogoVar | |||||||
NCAPG2_chr7_158626169_158709804 | 158648819 | C | CAACCACG others(493): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0344 | 1 | 215 | 0.0047 | 500 | c.307 others(519): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 24/27 | chr7 | TogoVar | |||||||
NCAPG2_chr7_158626169_158709804 | 158667532 | C | CTACTGGG others(493): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0304 | 1 | 202 | 0.0050 | 500 | c.148 others(519): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | |||||||
NDUFV3_chr21_42888309_42918299 | 42894401 | T | TAATATAT others(493): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0003 | a0003c0004 | a0003c0004t0006 | a0003c0004t0006g0018 | 1 | 202 | 0.0050 | 500 | c.48+ others(515): Show |
NDUFV3 | ENSG00000160194.18 | transcript | ENST00000354250.7 | protein_coding | 1/3 | chr21 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTATAC others(493): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0162 | 1 | 118 | 0.0085 | 500 | c.-75 others(519): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
NHLRC4_chr16_562005_574495 | 571084 | T | TGTGTGTG others(493): Show |
downstream_gene_variant | MODIFIER | NA18983.hp2 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 401 | 0.0050 | 500 | c.*26 others(511): Show |
NHLRC4 | ENSG00000257108.2 | transcript | ENST00000424439.3 | protein_coding | 1590 | chr16 | TogoVar | |||||||
NHLRC4_chr16_562005_574495 | 571108 | T | TGTGTGTG others(493): Show |
downstream_gene_variant | MODIFIER | NA18969.hp1 NA19054.hp2 NA19066.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 352 | 0.0085 | 500 | c.*26 others(511): Show |
NHLRC4 | ENSG00000257108.2 | transcript | ENST00000424439.3 | protein_coding | 1614 | chr16 | TogoVar | |||||||
NME4_chr16_392199_405754 | 397716 | G | GTGAGGGA others(493): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0093 | 1 | 261 | 0.0038 | 500 | c.91+ others(513): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NRIP1_chr21_14956235_15070000 | 15031053 | T | TACATTCC others(493): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02615.hp1 HG02886.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0019 | a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0002t0019g0202 others(2): Show |
5 | 168 | 0.0298 | 500 | c.-45 others(521): Show |
NRIP1 | ENSG00000180530.11 | transcript | ENST00000318948.7 | protein_coding | 2/3 | chr21 | TogoVar | |||||||
NT5DC3_chr12_103767310_103846234 | 103768604 | G | GGGGAGGG others(493): Show |
downstream_gene_variant | MODIFIER | HG01975.hp2 HG02004.hp1 HG02300.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0045 a0001c0001t0005g0050 a0001c0001t0005g0052 |
3 | 222 | 0.0135 | 500 | c.*92 others(511): Show |
NT5DC3 | ENSG00000111696.12 | transcript | ENST00000392876.8 | protein_coding | 3705 | chr12 | TogoVar | |||||||
NT5DC3_chr12_103767310_103846234 | 103768604 | G | GGGGAGGG others(493): Show |
downstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0342 | 1 | 220 | 0.0045 | 500 | c.*92 others(511): Show |
NT5DC3 | ENSG00000111696.12 | transcript | ENST00000392876.8 | protein_coding | 3705 | chr12 | TogoVar | |||||||
NUP93_chr16_56725129_56855286 | 56808471 | C | CTATATAA others(493): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0293 | 1 | 327 | 0.0031 | 500 | c.489 others(517): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NXN_chr17_794310_984776 | 841547 | C | CGGCGAGC others(493): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0109 | 1 | 134 | 0.0075 | 500 | c.361 others(519): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar |