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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FAM3B_chr21_41311801_41362727 | 41313500 | C | CATACAGT others(369): Show |
upstream_gene_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 314 | 0.0032 | 376 | c.-33 others(387): Show |
FAM3B | ENSG00000183844.17 | transcript | ENST00000357985.7 | protein_coding | 3300 | chr21 | TogoVar | |||||||
FAM3B_chr21_41311801_41362727 | 41313568 | G | GCATTTGA others(369): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 HG01952.hp1 NA19057.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0092 |
3 | 314 | 0.0096 | 376 | c.-33 others(387): Show |
FAM3B | ENSG00000183844.17 | transcript | ENST00000357985.7 | protein_coding | 3232 | chr21 | TogoVar | |||||||
FBP1_chr9_94598133_94644518 | 94616597 | T | TGTTTTTT others(369): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0109 | 1 | 358 | 0.0028 | 376 | c.426 others(393): Show |
FBP1 | ENSG00000165140.12 | transcript | ENST00000375326.9 | protein_coding | 3/6 | chr9 | TogoVar | |||||||
FLACC1_chr2_201283271_201362345 | 201284695 | G | GGGGAGAG others(369): Show |
downstream_gene_variant | MODIFIER | NA18998.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0182 | 1 | 370 | 0.0027 | 376 | c.*39 others(387): Show |
FLACC1 | ENSG00000155749.13 | transcript | ENST00000392257.8 | protein_coding | 3575 | chr2 | TogoVar | |||||||
FNIP2_chr4_158764026_158913050 | 158893626 | T | TATGATCT others(369): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 254 | 0.0039 | 376 | c.315 others(395): Show |
FNIP2 | ENSG00000052795.13 | transcript | ENST00000264433.11 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
FOXP1_chr3_70949708_71588728 | 71435378 | G | GGGAGGGA others(369): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0052 | 1 | 96 | 0.0104 | 376 | c.-16 others(397): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | |||||||
FOXP1_chr3_70949708_71588728 | 71435381 | A | AGGGAGGG others(369): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0050 | 1 | 96 | 0.0104 | 376 | c.-16 others(397): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | |||||||
FTCD_chr21_46131779_46160579 | 46145767 | C | CCGCCCTC others(369): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0027 | a0027c0026 | a0027c0026t0003 | a0027c0026t0003g0129 | 1 | 230 | 0.0044 | 376 | c.109 others(391): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 9/13 | chr21 | TogoVar | |||||||
GMEB2_chr20_63582605_63632101 | 63608881 | T | TAGAAACA others(369): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0144 | 1 | 330 | 0.0030 | 376 | c.132 others(393): Show |
GMEB2 | ENSG00000101216.11 | transcript | ENST00000370077.2 | protein_coding | 2/9 | chr20 | TogoVar | |||||||
GMEB2_chr20_63582605_63632101 | 63609417 | C | CACACATC others(369): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG00735.hp1 others(37): Show |
a0001a0004a0006 | a0001c0003a0001c0019a0004c0010others(1): Show | a0001c0003t0002a0001c0003t0022a0001c0003t0023others(4): Show | a0001c0003t0002g0001 a0001c0003t0002g0024 a0001c0003t0002g0025 others(32): Show |
40 | 330 | 0.1212 | 376 | c.132 others(393): Show |
GMEB2 | ENSG00000101216.11 | transcript | ENST00000370077.2 | protein_coding | 2/9 | chr20 | TogoVar | |||||||
GPATCH2_chr1_217421992_217636090 | 217524848 | G | GTGGAAAG others(369): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0159 | 1 | 188 | 0.0053 | 376 | c.109 others(395): Show |
GPATCH2 | ENSG00000092978.11 | transcript | ENST00000366935.8 | protein_coding | 5/9 | chr1 | TogoVar | |||||||
GPR173_chrX_53043789_53085615 | 53074425 | T | TATATATA others(369): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03225.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0029 a0001c0003t0002g0030 |
2 | 208 | 0.0096 | 376 | c.-97 others(393): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GPSM1_chr9_136322539_136364601 | 136355402 | G | GGGTGACA others(369): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0170 | 1 | 400 | 0.0025 | 376 | c.145 others(393): Show |
GPSM1 | ENSG00000160360.13 | transcript | ENST00000440944.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
HCN2_chr19_584881_622159 | 609934 | T | TTCAACTT others(369): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0002 | a0002c0035 | a0002c0035t0024 | a0002c0035t0024g0288 | 1 | 408 | 0.0025 | 376 | c.143 others(393): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HDAC4_chr2_239043168_239406020 | 239124637 | C | CGTTATAT others(369): Show |
intron_variant | MODIFIER | NA18612.hp1 NA18954.hp1 NA18983.hp1 |
a0001a0003 | a0001c0001a0001c0006a0003c0017 | a0001c0001t0013a0001c0006t0026a0003c0017t0013 | a0001c0001t0013g0109 a0001c0006t0026g0058 a0003c0017t0013g0220 |
3 | 242 | 0.0124 | 376 | c.153 others(395): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 12/26 | chr2 | TogoVar | |||||||
IFFO2_chr1_18899280_18961676 | 18925894 | T | TGGTTGGA others(369): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 376 | 0.0027 | 376 | c.666 others(393): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322730 | T | TATATATA others(369): Show |
upstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0106 | 1 | 323 | 0.0031 | 376 | c.-23 others(387): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2239 | chr21 | TogoVar | |||||||
INO80_chr15_40973880_41121280 | 41031612 | A | AGGGAGGA others(369): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0253 | 1 | 282 | 0.0036 | 376 | c.290 others(395): Show |
INO80 | ENSG00000128908.19 | transcript | ENST00000648947.1 | protein_coding | 24/35 | chr15 | TogoVar | |||||||
IQSEC3_chr12_61767_183455 | 163240 | C | CCTCCACA others(369): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0019 | a0001c0019t0034 | a0001c0019t0034g0244 | 1 | 282 | 0.0036 | 376 | c.258 others(393): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9406228 | C | CGTCTTCC others(369): Show |
3_prime_UTR_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0191 | a0001c0001t0191g0166 | 1 | 276 | 0.0036 | 376 | c.*60 others(385): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 605 | chr2 | TogoVar | ||||||
KCNK9_chr8_139612121_139708123 | 139687558 | G | GTGTACAC others(369): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0264 | 1 | 322 | 0.0031 | 376 | c.283 others(395): Show |
KCNK9 | ENSG00000169427.8 | transcript | ENST00000520439.3 | protein_coding | 1/1 | chr8 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178758039 | T | TACACAAG others(369): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0143 | 1 | 232 | 0.0043 | 376 | c.-67 others(395): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758039 | T | TATATATA others(369): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0048 | 1 | 232 | 0.0043 | 376 | c.-67 others(395): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KLHL17_chr1_955584_970719 | 964668 | G | GCGGGTCC others(369): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0046 | 1 | 432 | 0.0023 | 376 | c.170 others(393): Show |
KLHL17 | ENSG00000187961.15 | transcript | ENST00000338591.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LARS1_chr5_146108034_146187650 | 146174471 | T | TATATATC others(369): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0254 | 1 | 284 | 0.0035 | 376 | c.126 others(393): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 2/31 | chr5 | TogoVar | |||||||
LINGO2_chr9_27932617_29218601 | 28189269 | G | GAGGAAGG others(369): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0016 | a0001c0001t0004g0022 a0001c0001t0016g0011 |
2 | 62 | 0.0323 | 376 | c.-36 others(397): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 6/6 | chr9 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 858683 | G | GAGTGGTG others(369): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0005 | 1 | 294 | 0.0034 | 376 | c.153 others(395): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF2_chr22_50497949_50512702 | 50504238 | C | CCCCGGTG others(369): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0066 | 1 | 414 | 0.0024 | 376 | c.171 others(393): Show |
LMF2 | ENSG00000100258.18 | transcript | ENST00000474879.7 | protein_coding | 12/13 | chr22 | TogoVar | |||||||
LRRC23_chr12_6899822_6919229 | 6909274 | T | TATATATA others(369): Show |
intron_variant | MODIFIER | HG03654.hp2 HG04199.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 a0001c0001t0001g0104 |
2 | 316 | 0.0063 | 376 | c.622 others(391): Show |
LRRC23 | ENSG00000010626.15 | transcript | ENST00000443597.7 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
LRRK2_chr12_40219997_40374285 | 40247664 | A | ATATTTAT others(369): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02647.hp2 HG02717.hp1 others(2): Show |
a0003 | a0003c0004 | a0003c0004t0001a0003c0004t0002a0003c0004t0004 | a0003c0004t0001g0288 a0003c0004t0002g0294 a0003c0004t0004g0290 others(2): Show |
5 | 382 | 0.0131 | 376 | c.839 others(393): Show |
LRRK2 | ENSG00000188906.17 | transcript | ENST00000298910.12 | protein_coding | 7/50 | chr12 | TogoVar | |||||||
LRRK2_chr12_40219997_40374285 | 40247728 | A | ATATTTAT others(369): Show |
intron_variant | MODIFIER | HG01258.hp1 HG03239.hp2 NA20752.hp1 |
a0003 | a0003c0004 | a0003c0004t0001a0003c0004t0004 | a0003c0004t0001g0301 a0003c0004t0004g0286 a0003c0004t0004g0287 |
3 | 382 | 0.0079 | 376 | c.839 others(393): Show |
LRRK2 | ENSG00000188906.17 | transcript | ENST00000298910.12 | protein_coding | 7/50 | chr12 | TogoVar | |||||||
LRRK2_chr12_40219997_40374285 | 40247728 | A | ATATTTAT others(369): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00621.hp2 HG01109.hp1 others(10): Show |
a0001a0004a0021others(1): Show | a0001c0003a0001c0005a0004c0006others(2): Show | a0001c0003t0003a0001c0005t0003a0001c0005t0005others(4): Show | a0001c0003t0003g0278 a0001c0005t0003g0205 a0001c0005t0005g0195 others(10): Show |
13 | 382 | 0.0340 | 376 | c.839 others(393): Show |
LRRK2 | ENSG00000188906.17 | transcript | ENST00000298910.12 | protein_coding | 7/50 | chr12 | TogoVar | |||||||
LRRK2_chr12_40219997_40374285 | 40247728 | A | ATATTTAT others(369): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02572.hp2 HG02723.hp1 |
a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0280 a0003c0004t0004g0289 a0003c0004t0004g0291 |
3 | 382 | 0.0079 | 376 | c.839 others(393): Show |
LRRK2 | ENSG00000188906.17 | transcript | ENST00000298910.12 | protein_coding | 7/50 | chr12 | TogoVar | |||||||
LSP1_chr11_1848084_1897263 | 1871845 | A | AGGCAGGC others(369): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0217 | 1 | 360 | 0.0028 | 376 | c.54- others(391): Show |
LSP1 | ENSG00000130592.17 | transcript | ENST00000311604.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MLC1_chr22_50054391_50090426 | 50057392 | G | GGGTCAGG others(369): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 HG01109.hp1 HG01891.hp1 others(12): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0031 others(9): Show |
15 | 212 | 0.0708 | 376 | c.*41 others(387): Show |
MLC1 | ENSG00000100427.16 | transcript | ENST00000311597.10 | protein_coding | 1998 | chr22 | TogoVar | |||||||
MSH4_chr1_75791882_75918242 | 75906498 | T | TATATATA others(369): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0126 | 1 | 332 | 0.0030 | 376 | c.262 others(395): Show |
MSH4 | ENSG00000057468.7 | transcript | ENST00000263187.4 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MSH4_chr1_75791882_75918242 | 75906498 | T | TATATATA others(369): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0116 | 1 | 332 | 0.0030 | 376 | c.262 others(395): Show |
MSH4 | ENSG00000057468.7 | transcript | ENST00000263187.4 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MSH4_chr1_75791882_75918242 | 75906498 | T | TATATATA others(369): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(37): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0009 | a0001c0002t0001a0002c0003t0001a0002c0009t0001 | a0001c0002t0001g0002 a0002c0003t0001g0001 a0002c0003t0001g0003 others(36): Show |
40 | 332 | 0.1205 | 376 | c.262 others(395): Show |
MSH4 | ENSG00000057468.7 | transcript | ENST00000263187.4 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MSH4_chr1_75791882_75918242 | 75906498 | T | TATATATA others(369): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0329 | 1 | 332 | 0.0030 | 376 | c.262 others(395): Show |
MSH4 | ENSG00000057468.7 | transcript | ENST00000263187.4 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MSLN_chr16_755734_773862 | 767972 | G | GTGGGGGG others(369): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0214 | 1 | 388 | 0.0026 | 376 | c.159 others(393): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MYLK4_chr6_2658637_2755922 | 2694524 | G | GTGGTGGT others(369): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 384 | 0.0026 | 376 | c.160 others(393): Show |
MYLK4 | ENSG00000145949.12 | transcript | ENST00000274643.9 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
MYO7A_chr11_77123246_77220241 | 77193129 | C | CGATGCTG others(369): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0002 | 2 | 356 | 0.0056 | 376 | c.415 others(393): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 31/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MYRIP_chr3_39804609_40265321 | 40084296 | T | TATAATAC others(369): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02738.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0126 a0001c0001t0003g0046 |
2 | 170 | 0.0118 | 376 | c.332 others(395): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MYRIP_chr3_39804609_40265321 | 40084638 | T | TATATCGA others(369): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 170 | 0.0059 | 376 | c.332 others(395): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NBDY_chrX_56724243_56824179 | 56725501 | G | GTAACAAT others(369): Show |
upstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0013 | 1 | 160 | 0.0063 | 376 | c.-38 others(387): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 3741 | chrX | TogoVar | |||||||
NBDY_chrX_56724243_56824179 | 56725506 | A | AATATTGT others(369): Show |
upstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0012 | 1 | 160 | 0.0063 | 376 | c.-38 others(387): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 3736 | chrX | TogoVar | |||||||
NCAPH2_chr22_50503224_50529780 | 50504238 | C | CCCCGGTG others(369): Show |
upstream_gene_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0172 | 1 | 384 | 0.0026 | 376 | c.-41 others(387): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 3985 | chr22 | TogoVar | |||||||
NCK2_chr2_105739912_105899272 | 105807771 | C | CCTCCCTC others(369): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02970.hp1 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0323 |
3 | 334 | 0.0090 | 376 | c.-20 others(395): Show |
NCK2 | ENSG00000071051.14 | transcript | ENST00000233154.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTATAT others(369): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0344 | 1 | 362 | 0.0028 | 376 | c.-75 others(395): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
NHLRC4_chr16_562005_574495 | 571082 | T | TCTGCGTC others(369): Show |
downstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 424 | 0.0024 | 376 | c.*26 others(387): Show |
NHLRC4 | ENSG00000257108.2 | transcript | ENST00000424439.3 | protein_coding | 1588 | chr16 | TogoVar |