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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NOTCH1_chr9_136489433_136551048 | 136528443 | G | GGGGGGAT others(991): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0007 | a0001c0007t0006 | a0001c0007t0006g0104 | 1 | 283 | 0.0035 | 998 | c.141 others(1015): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(991): Show |
intron_variant | MODIFIER | HG02970.hp2 NA20300.hp1 |
a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0037 a0006c0006t0001g0038 |
2 | 25 | 0.0800 | 998 | c.371 others(1015): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(991): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0014 | a0014c0029 | a0014c0029t0001 | a0014c0029t0001g0001 | 1 | 24 | 0.0417 | 998 | c.371 others(1015): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 161874933 | A | ATAATATA others(991): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0008 | a0001c0008t0009 | a0001c0008t0009g0014 | 1 | 32 | 0.0313 | 998 | c.735 others(1017): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 6/11 | chr6 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114010763 | G | GGAGGGGA others(991): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 3 | 0.3333 | 998 | c.159 others(1015): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 16/23 | chr13 | TogoVar | |||||||
RIN3_chr14_92508781_92693994 | 92547360 | A | AAATAAAT others(991): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0295 | 1 | 306 | 0.0033 | 998 | c.45- others(1013): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SHANK1_chr19_50654255_50724802 | 50678791 | A | ATGGGGAG others(991): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0013 | a0013c0034 | a0013c0034t0007 | a0013c0034t0007g0252 | 1 | 304 | 0.0033 | 998 | c.257 others(1017): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246325241 | C | CGGGGGGG others(991): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0122 | 1 | 132 | 0.0076 | 998 | c.531 others(1015): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SYNE3_chr14_95402266_95521650 | 95419894 | A | AGGGTGAT others(991): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0003 | a0003c0004 | a0003c0004t0186 | a0003c0004t0186g0344 | 1 | 382 | 0.0026 | 998 | c.272 others(1017): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 17/17 | chr14 | TogoVar | |||||||
TMEM120B_chr12_121707752_121787068 | 121747263 | T | TGGGAGGC others(991): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0095 | 1 | 295 | 0.0034 | 998 | c.189 others(1015): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917283 | G | GGAGGCTG others(991): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01081.hp2 |
a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0012 | 2 | 329 | 0.0061 | 998 | c.218 others(1015): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20668985 | G | GCCCCCCG others(992): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0008 | a0008c0027 | a0008c0027t0001 | a0008c0027t0001g0162 | 1 | 154 | 0.0065 | 999 | c.170 others(1020): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ALDH7A1_chr5_126536841_126600219 | 126584671 | A | AAAAAAAA others(992): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0295 | 1 | 328 | 0.0030 | 999 | c.313 others(1014): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 3/17 | chr5 | TogoVar | |||||||
ALDH7A1_chr5_126536841_126600219 | 126584671 | A | AAAAAAAA others(992): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02129.hp1 HG02135.hp2 others(6): Show |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0002a0001c0004t0003others(3): Show | a0001c0004t0001g0154 a0001c0004t0001g0291 a0001c0004t0002g0293 others(6): Show |
9 | 336 | 0.0268 | 999 | c.313 others(1014): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 3/17 | chr5 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144531191 | A | AGAGCAGC others(992): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0083 | 1 | 145 | 0.0069 | 999 | c.298 others(1016): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 10/11 | chr8 | TogoVar | |||||||
ARHGEF10L_chr1_17534698_17702869 | 17689483 | C | CCCTCCCT others(992): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02897.hp2 HG03486.hp2 |
a0001 | a0001c0017a0001c0043 | a0001c0017t0002a0001c0043t0002 | a0001c0017t0002g0113 a0001c0017t0002g0148 a0001c0043t0002g0051 |
3 | 137 | 0.0219 | 999 | c.318 others(1018): Show |
ARHGEF10L | ENSG00000074964.17 | transcript | ENST00000361221.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 411068 | G | GTCTGTCC others(992): Show |
upstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0079 | a0001c0001t0079g0046 | 1 | 314 | 0.0032 | 999 | c.-21 others(1010): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1922 | chr19 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 411166 | C | CCGGATCC others(992): Show |
upstream_gene_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0154 | 1 | 190 | 0.0053 | 999 | c.-22 others(1010): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 2020 | chr19 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 411301 | G | GCCCCTAC others(992): Show |
upstream_gene_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0109 | a0001c0001t0109g0089 | 1 | 277 | 0.0036 | 999 | c.-23 others(1010): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 2155 | chr19 | TogoVar | |||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(992): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0176 | 1 | 6 | 0.1667 | 999 | c.380 others(1016): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(992): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 6 | 0.1667 | 999 | c.380 others(1016): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(992): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 6 | 0.1667 | 999 | c.380 others(1016): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(992): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0003 | a0003c0038 | a0003c0038t0001 | a0003c0038t0001g0136 | 1 | 13 | 0.0769 | 999 | c.109 others(1018): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(992): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0028 | a0001c0028t0038 | a0001c0028t0038g0138 | 1 | 13 | 0.0769 | 999 | c.109 others(1018): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DNAJC4_chr11_64225548_64239281 | 64237121 | G | GGGAGAGG others(992): Show |
downstream_gene_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 307 | 0.0033 | 999 | c.*29 others(1010): Show |
DNAJC4 | ENSG00000110011.14 | transcript | ENST00000628077.3 | protein_coding | 2841 | chr11 | TogoVar | |||||||
EP400_chr12_131944942_132085460 | 131998636 | T | TCTTTGTA others(992): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0025 | 1 | 74 | 0.0135 | 999 | c.282 others(1018): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
EP400_chr12_131944942_132085460 | 131998879 | A | ACTTTGTA others(992): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0005 | a0005c0048 | a0005c0048t0001 | a0005c0048t0001g0206 | 1 | 141 | 0.0071 | 999 | c.282 others(1018): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
FHOD3_chr18_36292713_36785220 | 36463434 | A | AAAAAAAT others(992): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0015 | a0015c0015 | a0015c0015t0001 | a0015c0015t0001g0101 | 1 | 158 | 0.0063 | 999 | c.338 others(1018): Show |
FHOD3 | ENSG00000134775.16 | transcript | ENST00000590592.6 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(992): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0069 | 1 | 132 | 0.0076 | 999 | c.94- others(1012): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
HIVEP3_chr1_41501365_41923922 | 41544868 | C | CACCACTA others(992): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0004 | a0004c0038 | a0004c0038t0059 | a0004c0038t0059g0080 | 1 | 123 | 0.0081 | 999 | c.520 others(1020): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 5/8 | chr1 | TogoVar | |||||||
LSS_chr21_46183446_46233774 | 46184620 | A | ACCCAGTG others(992): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 HG02486.hp2 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0263 a0001c0005t0001g0264 |
2 | 328 | 0.0061 | 999 | c.*64 others(1010): Show |
LSS | ENSG00000160285.15 | transcript | ENST00000397728.8 | protein_coding | 3825 | chr21 | TogoVar | |||||||
LUC7L_chr16_183990_234449 | 186578 | G | GGAGGAAC others(992): Show |
downstream_gene_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 320 | 0.0031 | 999 | c.*26 others(1010): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2411 | chr16 | TogoVar | |||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(992): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0055 | a0001c0055t0007 | a0001c0055t0007g0073 | 1 | 8 | 0.1250 | 999 | c.115 others(1016): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MKRN2_chr3_12552087_12588713 | 12563712 | A | ACTCCTGA others(992): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01099.hp2 HG02055.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0003 a0001c0001t0005g0258 a0001c0001t0005g0259 others(10): Show |
17 | 18 | 0.9444 | 999 | c.27- others(1014): Show |
MKRN2 | ENSG00000075975.17 | transcript | ENST00000170447.12 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MKRN2_chr3_12552087_12588713 | 12563712 | A | ACTCCTGA others(992): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01928.hp2 HG01934.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0150 a0001c0001t0002g0016 a0001c0001t0002g0149 others(3): Show |
7 | 8 | 0.8750 | 999 | c.27- others(1014): Show |
MKRN2 | ENSG00000075975.17 | transcript | ENST00000170447.12 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(992): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0083 | 1 | 24 | 0.0417 | 999 | c.371 others(1016): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114010763 | G | GGAGGGGA others(992): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0009 | a0001c0009t0008 | a0001c0009t0008g0048 | 1 | 3 | 0.3333 | 999 | c.159 others(1016): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 16/23 | chr13 | TogoVar | |||||||
RBFOX3_chr17_79084345_79616051 | 79554464 | C | CACCTGGC others(992): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0139 | 1 | 79 | 0.0127 | 999 | c.-32 others(1020): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 314675 | T | TCTGTGCC others(992): Show |
intron_variant | MODIFIER | HG02165.hp2 NA18999.hp2 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0023 a0001c0001t0014g0106 |
2 | 85 | 0.0235 | 999 | c.351 others(1016): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
RPS21_chr20_62382103_62393520 | 62382278 | G | GTGATGGT others(992): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG01433.hp2 HG01496.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 12 | 0.2500 | 999 | c.-48 others(1010): Show |
RPS21 | ENSG00000171858.18 | transcript | ENST00000343986.9 | protein_coding | 4824 | chr20 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1148485 | C | CCACCCCA others(992): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0103 | 1 | 121 | 0.0083 | 999 | c.167 others(1014): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 3/31 | chr19 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1148700 | T | TCCTCCTT others(992): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0138 | 1 | 65 | 0.0154 | 999 | c.167 others(1014): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 3/31 | chr19 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31431778 | T | TAGGGTGG others(992): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0018 | 1 | 322 | 0.0031 | 999 | c.101 others(1018): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31431967 | T | TAGGGTGG others(992): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0229 | 1 | 320 | 0.0031 | 999 | c.101 others(1016): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432083 | T | TTAGGGTG others(992): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0337 | 1 | 125 | 0.0080 | 999 | c.101 others(1016): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 246325221 | G | GGGAAGGA others(992): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 142 | 0.0070 | 999 | c.531 others(1016): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SPATA6_chr1_48290373_48477204 | 48384377 | G | GGAGAGGG others(992): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0192 | 1 | 320 | 0.0031 | 999 | c.909 others(1014): Show |
SPATA6 | ENSG00000132122.12 | transcript | ENST00000371847.8 | protein_coding | 9/12 | chr1 | TogoVar | |||||||
SPATC1L_chr21_46156160_46189459 | 46184620 | A | ACCCAGTG others(992): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0044 | 1 | 224 | 0.0045 | 999 | c.-12 others(1010): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 162 | chr21 | TogoVar | |||||||
TMEM132D_chr12_129066726_129909025 | 129828754 | G | GGGAGGAA others(992): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0010 | a0001c0001t0006g0068 a0001c0001t0010g0028 |
2 | 65 | 0.0308 | 999 | c.79+ others(1016): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | |||||||
TSHZ2_chr20_52967358_53500330 | 53204081 | T | TTATATCA others(992): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0004 | 1 | 98 | 0.0102 | 999 | c.41- others(1016): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |