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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATG10_chr5_81967023_82261133 | 82140160 | T | TGCCCGGC others(977): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0003 | a0003c0003 | a0003c0003t0007 | a0003c0003t0007g0044 | 1 | 112 | 0.0089 | 984 | c.217 others(1003): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82140160 | T | TGCCCGGC others(977): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0013 | 1 | 112 | 0.0089 | 984 | c.217 others(1003): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82140160 | T | TGCCCGGC others(977): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0003 | a0003c0003 | a0003c0003t0007 | a0003c0003t0007g0039 | 1 | 112 | 0.0089 | 984 | c.217 others(1003): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82140192 | T | TGGAGGGG others(977): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0024 | 1 | 207 | 0.0048 | 984 | c.217 others(1003): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 835481 | T | TGCAGCCC others(977): Show |
downstream_gene_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004 | 1 | 223 | 0.0045 | 984 | c.*36 others(995): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | |||||||
C10orf67_chr10_23197696_23349797 | 23331540 | A | AAGGGAAA others(977): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00741.hp1 HG01109.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0269 a0001c0001t0001g0291 a0001c0001t0001g0292 others(3): Show |
6 | 224 | 0.0268 | 984 | c.327 others(1001): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
CACNA1C_chr12_2047987_2702950 | 2539706 | T | TTTCATAA others(977): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0009 | 1 | 64 | 0.0156 | 984 | c.139 others(1005): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2539706 | T | TTTCATAA others(977): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 64 | 0.0156 | 984 | c.139 others(1005): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(977): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0244 | 1 | 6 | 0.1667 | 984 | c.380 others(1001): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110385906 | T | TTACAGTG others(977): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0016 | a0001c0016t0007 | a0001c0016t0007g0159 | 1 | 245 | 0.0041 | 984 | c.180 others(1003): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110385930 | T | TTACAGTG others(977): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0002 | a0002c0017 | a0002c0017t0003 | a0002c0017t0003g0126 | 1 | 184 | 0.0054 | 984 | c.180 others(1003): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COMMD9_chr11_36267292_36294424 | 36287120 | T | TACAATGT others(977): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03017.hp1 HG03688.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0246 a0001c0001t0001g0247 |
8 | 355 | 0.0225 | 984 | c.51+ others(999): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
COMMD9_chr11_36267292_36294424 | 36287152 | T | TACAATGT others(977): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 344 | 0.0029 | 984 | c.51+ others(999): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
CRLF2_chrX_1185490_1217649 | 1198339 | C | CCCAGGAA others(977): Show |
intron_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0108 | 1 | 85 | 0.0118 | 984 | c.646 others(999): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 5/7 | chrX | TogoVar | |||||||
DCLK1_chr13_35763652_36136382 | 35958279 | T | TCACCACT others(977): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0011 | 1 | 137 | 0.0073 | 984 | c.724 others(1003): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
DMRT1_chr9_836697_974090 | 902041 | C | CTGGGATT others(977): Show |
intron_variant | MODIFIER | HG03139.hp1 NA19043.hp1 |
a0001a0003 | a0001c0006a0003c0008 | a0001c0006t0001a0003c0008t0001 | a0001c0006t0001g0204 a0003c0008t0001g0295 |
2 | 301 | 0.0066 | 984 | c.822 others(1001): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49202969 | C | CGCCCGGC others(977): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0093 | 1 | 250 | 0.0040 | 984 | c.162 others(1003): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49202969 | C | CGCCCGGC others(977): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01516.hp2 HG01517.hp1 others(24): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0001t0003a0001c0001t0041others(1): Show | a0001c0001t0002g0175 a0001c0001t0002g0191 a0001c0001t0002g0220 others(24): Show |
27 | 276 | 0.0978 | 984 | c.162 others(1003): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49202969 | C | CGCCCGGC others(977): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0170 | 1 | 250 | 0.0040 | 984 | c.162 others(1003): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | |||||||
ELL_chr19_18437663_18527070 | 18442449 | A | ACACACCC others(977): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 HG02486.hp1 HG02896.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 others(2): Show |
5 | 92 | 0.0543 | 984 | c.*23 others(995): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 213 | chr19 | TogoVar | |||||||
ELL_chr19_18437663_18527070 | 18442449 | A | ACACACCC others(977): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG00733.hp2 HG01081.hp2 others(30): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0005a0002c0002t0008others(2): Show | a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0112 others(30): Show |
33 | 120 | 0.2750 | 984 | c.*23 others(995): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 213 | chr19 | TogoVar | |||||||
ELL_chr19_18437663_18527070 | 18442449 | A | ACACACCC others(977): Show |
downstream_gene_variant | MODIFIER | HG01081.hp1 HG01891.hp1 HG02886.hp2 others(14): Show |
a0001a0005 | a0001c0001a0001c0003a0001c0012others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0012t0010others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(14): Show |
17 | 104 | 0.1635 | 984 | c.*23 others(995): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 213 | chr19 | TogoVar | |||||||
ELL_chr19_18437663_18527070 | 18442449 | A | ACACACCC others(977): Show |
downstream_gene_variant | MODIFIER | NA18522.hp2 NA19240.hp1 |
a0001 | a0001c0007 | a0001c0007t0009 | a0001c0007t0009g0008 a0001c0007t0009g0009 |
2 | 89 | 0.0225 | 984 | c.*23 others(995): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 213 | chr19 | TogoVar | |||||||
ELL_chr19_18437663_18527070 | 18442449 | A | ACACACCC others(977): Show |
downstream_gene_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 88 | 0.0114 | 984 | c.*23 others(995): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 213 | chr19 | TogoVar | |||||||
ELL_chr19_18437663_18527070 | 18442449 | A | ACACACCC others(977): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG01069.hp1 others(53): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0001t0014a0001c0001t0017others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0144 a0001c0001t0001g0177 others(52): Show |
56 | 143 | 0.3916 | 984 | c.*23 others(995): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 213 | chr19 | TogoVar | |||||||
ELL_chr19_18437663_18527070 | 18442449 | A | ACACACCC others(977): Show |
downstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 88 | 0.0114 | 984 | c.*23 others(995): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 213 | chr19 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137328603 | T | TACACGGG others(977): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03139.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0030 a0002c0002t0001g0031 |
2 | 73 | 0.0274 | 984 | c.199 others(1003): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137328603 | T | TACACGGG others(977): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0027 | 1 | 72 | 0.0139 | 984 | c.199 others(1003): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137328611 | G | GCTACACG others(977): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 33 | 0.0303 | 984 | c.199 others(1003): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
FAM118A_chr22_45304934_45346955 | 45328039 | C | CCTGGACT others(977): Show |
intron_variant | MODIFIER | NA18941.hp1 | a0007 | a0007c0011 | a0007c0011t0002 | a0007c0011t0002g0002 | 1 | 410 | 0.0024 | 984 | c.522 others(997): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
FAM118A_chr22_45304934_45346955 | 45328345 | G | GGCAGAAC others(977): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0076 | 1 | 295 | 0.0034 | 984 | c.522 others(999): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
FAM118A_chr22_45304934_45346955 | 45328345 | G | GGCAGAAC others(977): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0080 | 1 | 295 | 0.0034 | 984 | c.522 others(999): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
FAM118A_chr22_45304934_45346955 | 45328367 | C | CCTGGACT others(977): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0105 | 1 | 290 | 0.0034 | 984 | c.522 others(999): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132241486 | C | CCTTCCCT others(977): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0027 | a0001c0027t0001 | a0001c0027t0001g0082 | 1 | 182 | 0.0055 | 984 | c.107 others(1003): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132241523 | C | CCACACAC others(977): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0129 | 1 | 142 | 0.0070 | 984 | c.107 others(1003): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALR1_chr18_77244848_77282900 | 77252881 | T | TCACCACC others(977): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0142 | 1 | 326 | 0.0031 | 984 | c.666 others(1001): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77252911 | C | CCACCACC others(977): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0273 | 1 | 341 | 0.0029 | 984 | c.666 others(1001): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399423 | A | ACCACCAC others(977): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 287 | 0.0035 | 984 | c.-25 others(1001): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | chr2 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10399423 | A | ACCACCAC others(977): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0021 | a0001c0001t0001g0122 a0001c0001t0021g0147 |
2 | 288 | 0.0069 | 984 | c.-25 others(1001): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | chr2 | TogoVar | |||||||
INPP5A_chr10_132532787_132788480 | 132775102 | A | AGGCAGGG others(977): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0120 | 1 | 185 | 0.0054 | 984 | c.978 others(1001): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ISYNA1_chr19_18429388_18443133 | 18442449 | A | ACACACCC others(977): Show |
upstream_gene_variant | MODIFIER | HG02145.hp2 HG02896.hp2 HG02897.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 4 | 131 | 0.0305 | 984 | c.-43 others(995): Show |
ISYNA1 | ENSG00000105655.19 | transcript | ENST00000338128.13 | protein_coding | 4317 | chr19 | TogoVar | |||||||
ISYNA1_chr19_18429388_18443133 | 18442449 | A | ACACACCC others(977): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG00733.hp2 HG01081.hp1 others(36): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004 | a0001c0002t0001g0003 a0001c0002t0001g0028 a0001c0002t0004g0005 |
39 | 166 | 0.2349 | 984 | c.-43 others(995): Show |
ISYNA1 | ENSG00000105655.19 | transcript | ENST00000338128.13 | protein_coding | 4317 | chr19 | TogoVar | |||||||
ISYNA1_chr19_18429388_18443133 | 18442449 | A | ACACACCC others(977): Show |
upstream_gene_variant | MODIFIER | HG01081.hp2 HG01891.hp1 HG02886.hp2 others(18): Show |
a0001a0005 | a0001c0002a0005c0009 | a0001c0002t0001a0005c0009t0001 | a0001c0002t0001g0003 a0005c0009t0001g0021 |
21 | 148 | 0.1419 | 984 | c.-43 others(995): Show |
ISYNA1 | ENSG00000105655.19 | transcript | ENST00000338128.13 | protein_coding | 4317 | chr19 | TogoVar | |||||||
ISYNA1_chr19_18429388_18443133 | 18442449 | A | ACACACCC others(977): Show |
upstream_gene_variant | MODIFIER | NA18522.hp1 NA19240.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 2 | 129 | 0.0155 | 984 | c.-43 others(995): Show |
ISYNA1 | ENSG00000105655.19 | transcript | ENST00000338128.13 | protein_coding | 4317 | chr19 | TogoVar | |||||||
ISYNA1_chr19_18429388_18443133 | 18442449 | A | ACACACCC others(977): Show |
upstream_gene_variant | MODIFIER | HG01515.hp2 HG01517.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0002 | 2 | 129 | 0.0155 | 984 | c.-43 others(995): Show |
ISYNA1 | ENSG00000105655.19 | transcript | ENST00000338128.13 | protein_coding | 4317 | chr19 | TogoVar | |||||||
ISYNA1_chr19_18429388_18443133 | 18442449 | A | ACACACCC others(977): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG01069.hp2 others(65): Show |
a0001a0006 | a0001c0002a0001c0003a0006c0011 | a0001c0002t0002a0001c0003t0001a0006c0011t0001 | a0001c0002t0002g0027 a0001c0003t0001g0002 a0001c0003t0001g0024 others(2): Show |
68 | 195 | 0.3487 | 984 | c.-43 others(995): Show |
ISYNA1 | ENSG00000105655.19 | transcript | ENST00000338128.13 | protein_coding | 4317 | chr19 | TogoVar | |||||||
ISYNA1_chr19_18429388_18443133 | 18442449 | A | ACACACCC others(977): Show |
upstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0002 | 1 | 128 | 0.0078 | 984 | c.-43 others(995): Show |
ISYNA1 | ENSG00000105655.19 | transcript | ENST00000338128.13 | protein_coding | 4317 | chr19 | TogoVar | |||||||
ISYNA1_chr19_18429388_18443133 | 18442449 | A | ACACACCC others(977): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0022 | 1 | 128 | 0.0078 | 984 | c.-43 others(995): Show |
ISYNA1 | ENSG00000105655.19 | transcript | ENST00000338128.13 | protein_coding | 4317 | chr19 | TogoVar | |||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(977): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 5 | 0.2000 | 984 | c.-41 others(999): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(977): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231 | 1 | 5 | 0.2000 | 984 | c.-41 others(999): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar |