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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(673): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0262 | 1 | 13 | 0.0769 | 680 | c.109 others(699): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89597938 | C | CCCCCGCC others(673): Show |
downstream_gene_variant | MODIFIER | NA19054.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0311 | 1 | 3 | 0.3333 | 680 | c.*13 others(691): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 693 | chr16 | TogoVar | |||||||
CRLF2_chrX_1185490_1217649 | 1198339 | C | CCCAGGAA others(673): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 85 | 0.0118 | 680 | c.646 others(695): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 5/7 | chrX | TogoVar | |||||||
CROCC2_chr2_240901336_240998311 | 240924947 | G | GTCCCCCA others(673): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0244 | 1 | 225 | 0.0044 | 680 | c.489 others(695): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | chr2 | TogoVar | |||||||
CROCC2_chr2_240901336_240998311 | 240924947 | G | GTCCCCCA others(673): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0002 | a0002c0011 | a0002c0011t0002 | a0002c0011t0002g0319 | 1 | 225 | 0.0044 | 680 | c.489 others(695): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | chr2 | TogoVar | |||||||
CRTC3_chr15_90524923_90650345 | 90647358 | A | ACCCCTCC others(673): Show |
downstream_gene_variant | MODIFIER | HG01934.hp1 HG02293.hp1 NA18945.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0199 others(1): Show |
4 | 182 | 0.0220 | 680 | c.*52 others(691): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2014 | chr15 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15933032 | A | ATGAGTGA others(673): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0005 | a0005c0010 | a0005c0010t0037 | a0005c0010t0037g0129 | 1 | 368 | 0.0027 | 680 | c.198 others(697): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15933143 | G | GGGAGAGG others(673): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0003 | a0003c0003 | a0003c0003t0020 | a0003c0003t0020g0088 | 1 | 317 | 0.0032 | 680 | c.198 others(697): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15933303 | A | AGCAGAGG others(673): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0001 | a0002c0001t0128 | a0002c0001t0128g0325 | 1 | 181 | 0.0055 | 680 | c.198 others(695): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
ESYT2_chr7_158725997_158834509 | 158745299 | G | GGCATGAC others(673): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0017 | 1 | 322 | 0.0031 | 680 | c.164 others(699): Show |
ESYT2 | ENSG00000117868.18 | transcript | ENST00000275418.13 | protein_coding | 16/22 | chr7 | TogoVar | |||||||
FLT4_chr5_180596506_180654600 | 180614200 | T | TTGTCCCG others(673): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0115 | 1 | 127 | 0.0079 | 680 | c.322 others(695): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 23/29 | chr5 | TogoVar | |||||||
FOXP1_chr3_70949708_71588728 | 71435841 | A | AAGGGACG others(673): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0081 | a0001c0001t0081g0017 | 1 | 87 | 0.0115 | 680 | c.-16 others(701): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | |||||||
GPR173_chrX_53043789_53085615 | 53073906 | T | TATATAAA others(673): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0145 | 1 | 95 | 0.0105 | 680 | c.-97 others(697): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GPR173_chrX_53043789_53085615 | 53073906 | T | TATATAAA others(673): Show |
intron_variant | MODIFIER | HG03654.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0188 a0001c0001t0006g0098 |
2 | 96 | 0.0208 | 680 | c.-97 others(697): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GPR173_chrX_53043789_53085615 | 53073906 | T | TATATAAA others(673): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 95 | 0.0105 | 680 | c.-97 others(697): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GPR173_chrX_53043789_53085615 | 53073906 | T | TATATAAA others(673): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 95 | 0.0105 | 680 | c.-97 others(697): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GPR173_chrX_53043789_53085615 | 53073906 | T | TATATAAA others(673): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 95 | 0.0105 | 680 | c.-97 others(697): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GPR173_chrX_53043789_53085615 | 53073906 | T | TATATAAA others(673): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0121 | 1 | 95 | 0.0105 | 680 | c.-97 others(697): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 310598 | C | CTGTCCTT others(673): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02615.hp1 |
a0015a0016 | a0015c0018a0016c0023 | a0015c0018t0004a0016c0023t0004 | a0015c0018t0004g0080 a0016c0023t0004g0075 |
2 | 75 | 0.0267 | 680 | c.112 others(697): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 7/9 | chrX | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 310598 | C | CTGTCCTT others(673): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00733.hp1 HG00735.hp1 others(30): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0003a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(7): Show | a0001c0001t0001g0035 a0001c0001t0002g0001 a0001c0001t0002g0004 others(25): Show |
33 | 106 | 0.3113 | 680 | c.112 others(697): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 7/9 | chrX | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557401 | T | TATATATA others(673): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0298 | 1 | 309 | 0.0032 | 680 | c.94- others(693): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323559 | A | AATATATA others(673): Show |
upstream_gene_variant | MODIFIER | HG03540.hp2 | a0003 | a0003c0003 | a0003c0003t0023 | a0003c0003t0023g0121 | 1 | 228 | 0.0044 | 680 | c.-14 others(691): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1410 | chr21 | TogoVar | |||||||
INPP5A_chr10_132532787_132788480 | 132775188 | G | GGGGCAGG others(673): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0040 | 1 | 13 | 0.0769 | 680 | c.978 others(697): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
INS_chr11_2154779_2166209 | 2161748 | A | ACACCCCT others(673): Show |
upstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 279 | 0.0036 | 680 | c.-59 others(689): Show |
INS | ENSG00000254647.7 | transcript | ENST00000381330.5 | protein_coding | 540 | chr11 | TogoVar | |||||||
KIAA0930_chr22_45187244_45245894 | 45228891 | A | ACCCCCCA others(673): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 358 | 0.0028 | 680 | c.64+ others(697): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 1/9 | chr22 | TogoVar | |||||||
KIF25_chr6_167992671_168050091 | 167997385 | G | GGCGGGGG others(673): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0149 | 1 | 358 | 0.0028 | 680 | c.-20 others(691): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 285 | chr6 | TogoVar | |||||||
KIF3B_chr20_32272651_32340011 | 32322764 | A | ATATTTAT others(673): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0005 | 1 | 104 | 0.0096 | 680 | c.174 others(699): Show |
KIF3B | ENSG00000101350.8 | transcript | ENST00000375712.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 857675 | C | CGGGTGTG others(673): Show |
intron_variant | MODIFIER | NA18952.hp2 NA18966.hp2 NA19010.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0001a0001c0004t0001 | a0001c0001t0001g0162 a0001c0003t0001g0131 a0001c0003t0001g0248 others(1): Show |
4 | 292 | 0.0137 | 680 | c.153 others(699): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 857705 | G | GAGTGGTG others(673): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0004 | a0001c0004t0016 | a0001c0004t0016g0025 | 1 | 242 | 0.0041 | 680 | c.153 others(699): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LRGUK_chr7_134122340_134269595 | 134190878 | A | AAAGCAGT others(673): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0110 | 1 | 113 | 0.0088 | 680 | c.133 others(697): Show |
LRGUK | ENSG00000155530.4 | transcript | ENST00000285928.3 | protein_coding | 11/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LRRC24_chr8_144517388_144532033 | 144531191 | A | AGAGCAGC others(673): Show |
upstream_gene_variant | MODIFIER | NA18974.hp2 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 235 | 0.0085 | 680 | c.-42 others(691): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4159 | chr8 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364533 | A | ACTTACAT others(673): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 243 | 0.0041 | 680 | c.129 others(697): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MERTK_chr2_111893607_112034561 | 111944498 | A | AATTCCTT others(673): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 47 | 0.0213 | 680 | c.483 others(695): Show |
MERTK | ENSG00000153208.19 | transcript | ENST00000295408.9 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MERTK_chr2_111893607_112034561 | 111944498 | A | AATTCCTT others(673): Show |
intron_variant | MODIFIER | HG02056.hp2 HG02129.hp2 HG02135.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0214 |
3 | 49 | 0.0612 | 680 | c.483 others(695): Show |
MERTK | ENSG00000153208.19 | transcript | ENST00000295408.9 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MERTK_chr2_111893607_112034561 | 111944498 | A | AATTCCTT others(673): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 47 | 0.0213 | 680 | c.483 others(695): Show |
MERTK | ENSG00000153208.19 | transcript | ENST00000295408.9 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MERTK_chr2_111893607_112034561 | 111944498 | A | AATTCCTT others(673): Show |
intron_variant | MODIFIER | HG00733.hp1 HG02602.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 a0001c0001t0001g0144 |
2 | 48 | 0.0417 | 680 | c.483 others(695): Show |
MERTK | ENSG00000153208.19 | transcript | ENST00000295408.9 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MERTK_chr2_111893607_112034561 | 111944498 | A | AATTCCTT others(673): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01069.hp2 HG01071.hp1 others(17): Show |
a0002a0003a0005 | a0002c0002a0002c0019a0003c0003others(1): Show | a0002c0002t0001a0002c0002t0002a0002c0019t0001others(2): Show | a0002c0002t0001g0004 a0002c0002t0001g0151 a0002c0002t0001g0154 others(17): Show |
20 | 66 | 0.3030 | 680 | c.483 others(695): Show |
MERTK | ENSG00000153208.19 | transcript | ENST00000295408.9 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(673): Show |
intron_variant | MODIFIER | NA18962.hp1 NA19074.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0008 a0001c0001t0010g0009 |
2 | 9 | 0.2222 | 680 | c.250 others(695): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
MROH1_chr8_144143016_144266926 | 144218788 | T | TCTGCTCT others(673): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 4 | 0.2500 | 680 | c.114 others(699): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYT1L_chr2_1784113_2336275 | 2295635 | C | CAGAGAGA others(673): Show |
intron_variant | MODIFIER | HG06807.hp2 NA20129.hp2 |
a0001 | a0001c0005a0001c0009 | a0001c0005t0010a0001c0009t0005 | a0001c0005t0010g0074 a0001c0009t0005g0075 |
2 | 95 | 0.0211 | 680 | c.-52 others(701): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 1/24 | chr2 | TogoVar | |||||||
NFATC1_chr18_79390930_79534323 | 79532268 | T | TCGGCAGA others(673): Show |
downstream_gene_variant | MODIFIER | HG02027.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0187 | 1 | 59 | 0.0169 | 680 | c.*46 others(691): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 2946 | chr18 | TogoVar | |||||||
NFATC1_chr18_79390930_79534323 | 79532308 | C | CCGGCAGA others(673): Show |
downstream_gene_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0041 | 1 | 294 | 0.0034 | 680 | c.*47 others(691): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 2986 | chr18 | TogoVar | |||||||
NFATC1_chr18_79390930_79534323 | 79532331 | C | CTGCAGCC others(673): Show |
downstream_gene_variant | MODIFIER | NA18970.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0237 | 1 | 242 | 0.0041 | 680 | c.*47 others(691): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 3009 | chr18 | TogoVar | |||||||
NLRP4_chr19_55831540_55886855 | 55850164 | A | AATTTCCG others(673): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0231 | 1 | 375 | 0.0027 | 680 | c.-65 others(697): Show |
NLRP4 | ENSG00000160505.16 | transcript | ENST00000301295.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NOL4L_chr20_32438059_32590333 | 32563163 | G | GGGTGGAG others(673): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0066 | 1 | 173 | 0.0058 | 680 | c.321 others(699): Show |
NOL4L | ENSG00000197183.15 | transcript | ENST00000621426.7 | protein_coding | 1/10 | chr20 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136528441 | A | AGGGGGGG others(673): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0123 | 1 | 242 | 0.0041 | 680 | c.141 others(697): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136528441 | A | AGGGGGGG others(673): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0074 | 1 | 242 | 0.0041 | 680 | c.141 others(697): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NT5C1A_chr1_39646229_39677107 | 39664497 | T | TCCTCTCC others(673): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0012 | 1 | 30 | 0.0333 | 680 | c.433 others(697): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
NUP93_chr16_56725129_56855286 | 56739406 | A | AACCTCCC others(673): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0014 | 1 | 257 | 0.0039 | 680 | c.-14 others(697): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NUP93_chr16_56725129_56855286 | 56739406 | A | AACCTCCC others(673): Show |
intron_variant | MODIFIER | HG03041.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0015 a0001c0001t0013g0016 |
2 | 258 | 0.0078 | 680 | c.-14 others(697): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |