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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
VCX2_chrX_8164944_8176267 | 8169240 | C | CCCTCCCT others(826): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0011 | 1 | 108 | 0.0093 | 833 | c.*79 others(842): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 703 | chrX | TogoVar | |||||||
VCX_chrX_7838171_7849143 | 7844325 | T | TGGTGTGT others(826): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0001 | 1 | 291 | 0.0034 | 833 | c.*30 others(842): Show |
VCX | ENSG00000182583.13 | transcript | ENST00000688183.1 | protein_coding | 183 | chrX | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1173269 | A | ACATCACC others(827): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0094 | 1 | 318 | 0.0031 | 834 | c.61+ others(849): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
AFF2_chrX_148495617_149005663 | 148581231 | T | TACGTGTA others(827): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0004 | a0001c0004t0067 | a0001c0004t0067g0160 | 1 | 161 | 0.0062 | 834 | c.48- others(851): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AFF2_chrX_148495617_149005663 | 148581249 | C | CATATACG others(827): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0130 | 1 | 112 | 0.0089 | 834 | c.48- others(851): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ANKLE2_chr12_132720503_132766832 | 132759203 | C | CGCTGCGG others(827): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 265 | 0.0038 | 834 | c.181 others(851): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 1/12 | chr12 | TogoVar | |||||||
ANKRD11_chr16_89262630_89495561 | 89341900 | A | ACCCACAG others(827): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0122 | 1 | 254 | 0.0039 | 834 | c.-59 others(853): Show |
ANKRD11 | ENSG00000167522.17 | transcript | ENST00000301030.10 | protein_coding | 2/12 | chr16 | TogoVar | |||||||
ARHGEF10_chr8_1818926_1963641 | 1833035 | G | GAGAGACA others(827): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0005 | a0001c0005t0016 | a0001c0005t0016g0167 | 1 | 74 | 0.0135 | 834 | c.-48 others(851): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BIRC7_chr20_63230905_63245495 | 63235393 | T | TGGGGGAA others(827): Show |
upstream_gene_variant | MODIFIER | NA19075.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0037 | 1 | 8 | 0.1250 | 834 | c.-70 others(843): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 511 | chr20 | TogoVar | |||||||
CCDC88C_chr14_91266323_91422820 | 91293498 | A | ACCCGCCA others(827): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 229 | 0.0044 | 834 | c.411 others(851): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | |||||||
CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(827): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0048 | 1 | 38 | 0.0263 | 834 | c.248 others(851): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(827): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0009 | a0009c0018 | a0009c0018t0015 | a0009c0018t0015g0035 | 1 | 38 | 0.0263 | 834 | c.248 others(851): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(827): Show |
intron_variant | MODIFIER | HG02559.hp2 NA18986.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0200 a0001c0001t0009g0300 |
2 | 39 | 0.0513 | 834 | c.248 others(851): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(827): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0207 | 1 | 38 | 0.0263 | 834 | c.248 others(851): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20337583 | T | TGGGTGGG others(827): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(41): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(11): Show | a0001c0001t0001g0203 a0001c0001t0001g0208 a0001c0001t0002g0063 others(41): Show |
44 | 47 | 0.9362 | 834 | c.342 others(853): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56098080 | A | AATATATA others(827): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0026 | 1 | 119 | 0.0084 | 834 | c.181 others(853): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 322177 | G | GGCGAGAG others(827): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0018 | 1 | 67 | 0.0149 | 834 | c.392 others(853): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | |||||||
GALR1_chr18_77244848_77282900 | 77252992 | C | CCACCACC others(827): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0303 | 1 | 286 | 0.0035 | 834 | c.666 others(851): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GAPVD1_chr9_125256826_125372207 | 125265636 | C | CTCCTGAC others(827): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0268 | 1 | 160 | 0.0063 | 834 | c.-19 others(853): Show |
GAPVD1 | ENSG00000165219.23 | transcript | ENST00000297933.11 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GET4_chr7_871554_901436 | 890279 | T | TGAGCGGG others(827): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0121 | 1 | 263 | 0.0038 | 834 | c.467 others(849): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GET4_chr7_871554_901436 | 890279 | T | TGAGCGGG others(827): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0130 | 1 | 263 | 0.0038 | 834 | c.467 others(849): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GET4_chr7_871554_901436 | 890279 | T | TGAGCGGG others(827): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0131 | 1 | 263 | 0.0038 | 834 | c.467 others(849): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GET4_chr7_871554_901436 | 890279 | T | TGAGCGGG others(827): Show |
intron_variant | MODIFIER | NA18939.hp2 NA19068.hp1 NA19079.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0033 a0001c0002t0002g0126 a0001c0002t0002g0132 |
3 | 265 | 0.0113 | 834 | c.467 others(849): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(827): Show |
upstream_gene_variant | MODIFIER | HG02074.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0206 | 1 | 204 | 0.0049 | 834 | c.-36 others(845): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(827): Show |
upstream_gene_variant | MODIFIER | NA20805.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 204 | 0.0049 | 834 | c.-36 others(845): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(827): Show |
upstream_gene_variant | MODIFIER | NA18972.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0197 | 1 | 204 | 0.0049 | 834 | c.-36 others(845): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(827): Show |
upstream_gene_variant | MODIFIER | HG03490.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0233 | 1 | 204 | 0.0049 | 834 | c.-36 others(845): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(827): Show |
upstream_gene_variant | MODIFIER | NA19057.hp2 | a0002 | a0002c0002 | a0002c0002t0040 | a0002c0002t0040g0198 | 1 | 204 | 0.0049 | 834 | c.-36 others(845): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(827): Show |
upstream_gene_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0192 a0002c0004t0002g0219 |
2 | 205 | 0.0098 | 834 | c.-36 others(845): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | |||||||
INS_chr11_2154779_2166209 | 2161948 | C | CACCCCTG others(827): Show |
upstream_gene_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 13 | 0.0769 | 834 | c.-79 others(843): Show |
INS | ENSG00000254647.7 | transcript | ENST00000381330.5 | protein_coding | 740 | chr11 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132173149 | T | TCTCTCTC others(827): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0051 | 1 | 144 | 0.0069 | 834 | c.*11 others(855): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(827): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265 | 1 | 5 | 0.2000 | 834 | c.-41 others(849): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KDM2B_chr12_121424096_121586023 | 121514828 | C | CTCCCCAC others(827): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0204 | 1 | 11 | 0.0909 | 834 | c.104 others(853): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 9/22 | chr12 | TogoVar | |||||||
KDM2B_chr12_121424096_121586023 | 121514828 | C | CTCCCCAC others(827): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0197 | 1 | 11 | 0.0909 | 834 | c.104 others(853): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 9/22 | chr12 | TogoVar | |||||||
KRT82_chr12_52388931_52411335 | 52409039 | T | TCCTCTCC others(827): Show |
upstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0063 | 1 | 77 | 0.0130 | 834 | c.-27 others(845): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2705 | chr12 | TogoVar | |||||||
KRT82_chr12_52388931_52411335 | 52409039 | T | TCCTCTCC others(827): Show |
upstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0062 | 1 | 77 | 0.0130 | 834 | c.-27 others(845): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2705 | chr12 | TogoVar | |||||||
LOC128462377_chr16_89312046_89423292 | 89341900 | A | ACCCACAG others(827): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 302 | 0.0033 | 834 | c.10- others(851): Show |
LOC128462377 | ENSG00000288715.2 | transcript | ENST00000711617.1 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
LRP8_chr1_53237364_53333070 | 53283749 | C | CCACTTAC others(827): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0063 | 1 | 6 | 0.1667 | 834 | c.368 others(851): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | |||||||
LRP8_chr1_53237364_53333070 | 53283749 | C | CCACTTAC others(827): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0011 | a0001c0001t0004g0243 a0001c0001t0011g0281 |
2 | 7 | 0.2857 | 834 | c.368 others(851): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | |||||||
LRP8_chr1_53237364_53333070 | 53283749 | C | CCACTTAC others(827): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01192.hp2 HG03098.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0012a0002c0002t0021a0002c0002t0049 | a0001c0001t0012g0021 a0002c0002t0021g0062 a0002c0002t0049g0064 |
3 | 8 | 0.3750 | 834 | c.368 others(851): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | |||||||
LRP8_chr1_53237364_53333070 | 53283749 | C | CCACTTAC others(827): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0272 | 1 | 6 | 0.1667 | 834 | c.368 others(851): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | |||||||
LUC7L_chr16_183990_234449 | 186119 | G | GGAGGAAC others(827): Show |
downstream_gene_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0323 | 1 | 310 | 0.0032 | 834 | c.*30 others(845): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2870 | chr16 | TogoVar | |||||||
MCTP2_chr15_94226561_94488952 | 94348434 | C | CCTCCCCC others(827): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0092 | 1 | 6 | 0.1667 | 834 | c.100 others(853): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(827): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0002 | a0002c0016 | a0002c0016t0002 | a0002c0016t0002g0079 | 1 | 8 | 0.1250 | 834 | c.115 others(851): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(827): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 8 | 0.1250 | 834 | c.250 others(849): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(827): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0004 | a0004c0004 | a0004c0004t0011 | a0004c0004t0011g0040 | 1 | 8 | 0.1250 | 834 | c.250 others(849): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(827): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 8 | 0.1250 | 834 | c.250 others(849): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
MRPL28_chr16_361969_375538 | 370338 | G | GCTACCCC others(827): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0005 | a0005c0007 | a0005c0007t0010 | a0005c0007t0010g0047 | 1 | 353 | 0.0028 | 834 | c.-7- others(847): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
MUSK_chr9_110663791_110811558 | 110690605 | T | TATATATA others(827): Show |
intron_variant | MODIFIER | HG02486.hp1 NA18906.hp2 |
a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0048 a0001c0002t0012g0050 |
2 | 313 | 0.0064 | 834 | c.358 others(851): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NPHP4_chr1_5857811_5997425 | 5977904 | A | AGAAGAGA others(827): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0159 | 1 | 4 | 0.2500 | 834 | c.279 others(849): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar |