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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASB9_chrX_15238987_15275083 | 15267555 | T | TAACATGG others(859): Show |
intron_variant | MODIFIER | NA18963.hp2 NA19079.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 a0001c0001t0001g0129 |
2 | 28 | 0.0714 | 866 | c.94+ others(881): Show |
ASB9 | ENSG00000102048.16 | transcript | ENST00000380488.9 | protein_coding | 1/6 | chrX | TogoVar | |||||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(859): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01243.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0310 a0001c0001t0001g0317 |
2 | 11 | 0.1818 | 866 | c.327 others(883): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110255707 | A | AAGGCAGG others(859): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0004 | a0004c0022 | a0004c0022t0001 | a0004c0022t0001g0100 | 1 | 180 | 0.0056 | 866 | c.85- others(883): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL5A1_chr9_134636803_134849843 | 134685430 | C | CCATCCAT others(859): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0033 | a0001c0033t0006 | a0001c0033t0006g0192 | 1 | 3 | 0.3333 | 866 | c.110 others(883): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CYLC1_chrX_83856146_83891698 | 83878226 | T | TATATATA others(859): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 164 | 0.0061 | 866 | c.192 others(885): Show |
CYLC1 | ENSG00000183035.13 | transcript | ENST00000329312.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DCDC2_chr6_24166755_24363059 | 24238175 | A | AGGGAGGG others(859): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0201 | 1 | 97 | 0.0103 | 866 | c.923 others(885): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | |||||||
DCDC2_chr6_24166755_24363059 | 24238175 | A | AGGGAGGG others(859): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0049 | 1 | 97 | 0.0103 | 866 | c.923 others(885): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | |||||||
DCHS2_chr4_154226742_154496799 | 154291786 | T | TACTAAAT others(859): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0077 | a0077c0081 | a0077c0081t0015 | a0077c0081t0015g0107 | 1 | 190 | 0.0053 | 866 | c.646 others(885): Show |
DCHS2 | ENSG00000197410.14 | transcript | ENST00000357232.10 | protein_coding | 13/19 | chr4 | TogoVar | |||||||
DCLK1_chr13_35763652_36136382 | 35958279 | T | TCACCACT others(859): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0002 | a0001c0002t0032 | a0001c0002t0032g0118 | 1 | 137 | 0.0073 | 866 | c.724 others(885): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
DPEP1_chr16_89608642_89643433 | 89619751 | G | GCCCCCCT others(859): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 247 | 0.0040 | 866 | c.-10 others(885): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
EEF1A2_chr20_63483014_63504083 | 63486887 | C | CCTGCCCA others(859): Show |
downstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 366 | 0.0027 | 866 | c.*14 others(877): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1126 | chr20 | TogoVar | |||||||
EPHB2_chr1_22705839_22926500 | 22754841 | G | GGAGGTGA others(859): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0082 a0001c0001t0003g0081 |
2 | 66 | 0.0303 | 866 | c.62- others(883): Show |
EPHB2 | ENSG00000133216.17 | transcript | ENST00000374630.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
FHIT_chr3_59742277_61256452 | 60861204 | T | TATATATG others(859): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 23 | 0.0435 | 866 | c.-11 others(887): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 3/9 | chr3 | TogoVar | |||||||
FLT3_chr13_27998274_28105576 | 27999112 | T | TGTATATA others(859): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 | a0014 | a0014c0031 | a0014c0031t0004 | a0014c0031t0004g0153 | 1 | 289 | 0.0035 | 866 | c.*49 others(877): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4161 | chr13 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(859): Show |
upstream_gene_variant | MODIFIER | HG01928.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0207 | 1 | 204 | 0.0049 | 866 | c.-36 others(877): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(859): Show |
upstream_gene_variant | MODIFIER | NA18953.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0201 | 1 | 204 | 0.0049 | 866 | c.-36 others(877): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(859): Show |
upstream_gene_variant | MODIFIER | NA18959.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0190 | 1 | 204 | 0.0049 | 866 | c.-36 others(877): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322309 | A | ATATATGC others(859): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0200 | 1 | 305 | 0.0033 | 866 | c.-27 others(877): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2660 | chr21 | TogoVar | |||||||
ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TTCCCCTC others(859): Show |
downstream_gene_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0164 | 1 | 124 | 0.0081 | 866 | c.*65 others(877): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar | |||||||
JUND_chr19_18274694_18286622 | 18284520 | A | AAATAATA others(859): Show |
upstream_gene_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 188 | 0.0053 | 866 | c.-30 others(877): Show |
JUND | ENSG00000130522.6 | transcript | ENST00000252818.5 | protein_coding | 2899 | chr19 | TogoVar | |||||||
JUND_chr19_18274694_18286622 | 18284520 | A | AAATAATA others(859): Show |
upstream_gene_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 188 | 0.0053 | 866 | c.-30 others(877): Show |
JUND | ENSG00000130522.6 | transcript | ENST00000252818.5 | protein_coding | 2899 | chr19 | TogoVar | |||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(859): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 5 | 0.2000 | 866 | c.-41 others(881): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KDM2B_chr12_121424096_121586023 | 121514897 | C | CACCCCCA others(859): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0204 | 1 | 231 | 0.0043 | 866 | c.104 others(885): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 9/22 | chr12 | TogoVar | |||||||
LARS1_chr5_146108034_146187650 | 146174557 | T | TATATATA others(859): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0220 | 1 | 279 | 0.0036 | 866 | c.126 others(883): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 2/31 | chr5 | TogoVar | |||||||
LDLRAD3_chr11_35939062_36237136 | 36055114 | A | ATGGATGC others(859): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0218 | 1 | 168 | 0.0060 | 866 | c.193 others(885): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
LDLRAD3_chr11_35939062_36237136 | 36055116 | A | ATGGATGC others(859): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02922.hp2 HG03098.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0006a0001c0002t0001others(2): Show | a0001c0001t0003g0162 a0001c0001t0006g0203 a0001c0002t0001g0157 others(2): Show |
5 | 195 | 0.0256 | 866 | c.193 others(885): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124471657 | A | ATATATTT others(859): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0124 | 1 | 80 | 0.0125 | 866 | c.125 others(883): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LORICRIN_chr1_153254687_153267124 | 153256713 | A | AGTCACAT others(859): Show |
upstream_gene_variant | MODIFIER | HG02615.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0001 | 1 | 374 | 0.0027 | 866 | c.-30 others(877): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2973 | chr1 | TogoVar | |||||||
LRP8_chr1_53237364_53333070 | 53283749 | C | CCACTTAC others(859): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0214 | 1 | 6 | 0.1667 | 866 | c.368 others(883): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | |||||||
LUC7L_chr16_183990_234449 | 186901 | G | GGAGGAAC others(859): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0303 | 1 | 316 | 0.0032 | 866 | c.*22 others(877): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2088 | chr16 | TogoVar | |||||||
MICALL2_chr7_1429359_1464470 | 1446452 | G | GGGGGGGA others(859): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0107 | 1 | 8 | 0.1250 | 866 | c.641 others(881): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | |||||||
NAALADL2_chr3_174854334_175815548 | 175670512 | A | AATTTATA others(859): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0003 | a0003c0005 | a0003c0005t0028 | a0003c0005t0028g0050 | 1 | 4 | 0.2500 | 866 | c.189 others(887): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136528443 | G | GGGGATGG others(859): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0014 | a0001c0014t0002 | a0001c0014t0002g0096 | 1 | 283 | 0.0035 | 866 | c.141 others(883): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NT5C1A_chr1_39646229_39677107 | 39664497 | T | TCCTCTCC others(859): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0076 | 1 | 30 | 0.0333 | 866 | c.433 others(883): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
OR3A2_chr17_3271177_3391308 | 3327954 | C | CTTGTAGT others(859): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0299 | 1 | 268 | 0.0037 | 866 | c.-27 others(885): Show |
OR3A2 | ENSG00000221882.5 | transcript | ENST00000573901.3 | protein_coding | 2/4 | chr17 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109354509 | T | TATAGATT others(859): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0089 | 1 | 245 | 0.0041 | 866 | c.176 others(885): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109354509 | T | TATAGATT others(859): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0093 | 1 | 245 | 0.0041 | 866 | c.176 others(885): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | |||||||
PRDM16_chr1_3064203_3443621 | 3260742 | A | ATGATGGT others(859): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0111 | 1 | 70 | 0.0143 | 866 | c.438 others(885): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 492360 | T | TCCTCCCG others(859): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0170 | 1 | 234 | 0.0043 | 866 | c.126 others(885): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(859): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02165.hp1 HG02165.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009a0001c0001t0025 | a0001c0001t0003g0068 a0001c0001t0003g0168 a0001c0001t0009g0019 others(1): Show |
4 | 22 | 0.1818 | 866 | c.24+ others(883): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(859): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0029 | 1 | 19 | 0.0526 | 866 | c.24+ others(883): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(859): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0030 | 1 | 19 | 0.0526 | 866 | c.24+ others(883): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
RAPGEF1_chr9_131571775_131745076 | 131586845 | C | CACACACA others(859): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0062 | 1 | 365 | 0.0027 | 866 | c.323 others(883): Show |
RAPGEF1 | ENSG00000107263.19 | transcript | ENST00000683357.1 | protein_coding | 22/26 | chr9 | TogoVar | |||||||
RIN3_chr14_92508781_92693994 | 92547360 | A | AAATAAAT others(859): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0252 | 1 | 306 | 0.0033 | 866 | c.45- others(881): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92640528 | G | GTTTGCTG others(859): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0014 | a0014c0038 | a0014c0038t0001 | a0014c0038t0001g0249 | 1 | 332 | 0.0030 | 866 | c.441 others(881): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1164823 | G | GGAGGAGG others(859): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0181 | 1 | 2 | 0.5000 | 866 | c.-12 others(885): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SNTG2_chr2_945849_1372613 | 1221594 | C | CTGCCTCT others(859): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0123 | 1 | 159 | 0.0063 | 866 | c.719 others(885): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATC1L_chr21_46156160_46189459 | 46170521 | T | TCCTTCTC others(859): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0011 | a0011c0012 | a0011c0012t0001 | a0011c0012t0001g0129 | 1 | 85 | 0.0118 | 866 | c.194 others(883): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 2/4 | chr21 | TogoVar | |||||||
TBC1D22A_chr22_46757650_47180693 | 46878326 | A | AGAGAGAA others(859): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018 | 1 | 31 | 0.0323 | 866 | c.638 others(881): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 46878326 | A | AGAGAGAA others(859): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0006 | 1 | 31 | 0.0323 | 866 | c.638 others(881): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar |