regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLC6A3_chr5_1387794_1450440 | 1414469 | G | GCTGGGTG others(1134): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0013 | 1 | 373 | 0.0027 | 1141 | c.115 others(1158): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1414498 | G | GGAGAAGG others(1134): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0361 | 1 | 373 | 0.0027 | 1141 | c.115 others(1158): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1414498 | G | GGGGAAGG others(1134): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0270 | 1 | 373 | 0.0027 | 1141 | c.115 others(1158): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | ||||||
SYTL3_chr6_158645054_158769871 | 158701175 | G | GGTGAGCT others(1134): Show |
intron_variant | MODIFIER | HG02132.hp2 HG03834.hp1 HG04199.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0010a0002c0002others(1): Show | a0001c0001t0001a0001c0010t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0212others(3): Show | 6 | 292 | 0.0206 | 1141 | c.395 others(1158): Show |
SYTL3 | ENSG00000164674.17 | transcript | ENST00000611299.5 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
TWIST2_chr2_238843085_238915534 | 238870316 | C | CCCCACAC others(1134): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0283 | 1 | 338 | 0.0030 | 1141 | c.*35 others(1160): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
UCN3_chr10_5359966_5379692 | 5370262 | C | CGTGTGTA others(1134): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0112 | 1 | 468 | 0.0021 | 1141 | c.-6- others(1156): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
VCX2_chrX_8164944_8176267 | 8169723 | C | CCCTCCCT others(1134): Show |
downstream_gene_variant | MODIFIER | HG02056.hp1 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0061 | 1 | 115 | 0.0087 | 1141 | c.*30 others(1150): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 220 | chrX | TogoVar | ||||||
APCDD1L_chr20_58454101_58520399 | 58520302 | T | TAGGAGGA others(1135): Show |
upstream_gene_variant | MODIFIER | NA19062.hp1 | a0010 | a0010c0021 | a0010c0021t0002 | a0010c0021t0002g0352 | 1 | 376 | 0.0027 | 1142 | c.-55 others(1153): Show |
APCDD1L | ENSG00000198768.11 | transcript | ENST00000371149.8 | protein_coding | 4904 | chr20 | TogoVar | ||||||
ARHGAP19_chr10_97217179_97297637 | 97251448 | G | GGAAGGGG others(1135): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0063 | 1 | 242 | 0.0041 | 1142 | c.927 others(1159): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | ||||||
ARHGAP19_chr10_97217179_97297637 | 97251501 | A | AGGGGGAA others(1135): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0024 | 1 | 242 | 0.0041 | 1142 | c.927 others(1159): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 83026615 | T | TACACAGA others(1135): Show |
intron_variant | MODIFIER | HG01361.hp1 HG01943.hp1 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0032a0002c0005t0003 | a0001c0001t0032g0162a0002c0005t0003g0161 | 2 | 266 | 0.0075 | 1142 | c.297 others(1159): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 4/12 | chr17 | TogoVar | ||||||
CCDC88C_chr14_91266323_91422820 | 91293336 | T | TCACCTTC others(1135): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0044 | 1 | 284 | 0.0035 | 1142 | c.411 others(1159): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11284432 | T | TGGATGAG others(1135): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03130.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0014 | a0001c0001t0003g0149a0001c0002t0014g0040 | 2 | 194 | 0.0103 | 1142 | c.842 others(1159): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(1135): Show |
intron_variant | MODIFIER | NA18522.hp1 NA21309.hp1 |
a0001a0014 | a0001c0003a0014c0053 | a0001c0003t0028a0014c0053t0029 | a0001c0003t0028g0135a0014c0053t0029g0134 | 2 | 272 | 0.0074 | 1142 | c.109 others(1161): 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(1135): Show |
intron_variant | MODIFIER | NA19067.hp2 NA19070.hp1 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0021a0001c0004t0001 | a0001c0003t0021g0169a0001c0004t0001g0170 | 2 | 272 | 0.0074 | 1142 | c.109 others(1161): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DCDC2C_chr2_3698575_3853008 | 3725434 | A | AGAGGAAG others(1135): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02083.hp1 |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0003 | a0002c0003t0001g0213a0002c0003t0003g0208 | 2 | 324 | 0.0062 | 1142 | c.340 others(1159): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1135): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0020 | a0020c0013 | a0020c0013t0001 | a0020c0013t0001g0167 | 1 | 252 | 0.0040 | 1142 | c.118 others(1161): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1135): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0005 | a0005c0067 | a0005c0067t0001 | a0005c0067t0001g0042 | 1 | 252 | 0.0040 | 1142 | c.118 others(1161): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1135): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 252 | 0.0040 | 1142 | c.118 others(1161): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438445 | G | GGAGGAGG others(1135): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0090 | a0090c0095 | a0090c0095t0001 | a0090c0095t0001g0084 | 1 | 252 | 0.0040 | 1142 | c.118 others(1161): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGG others(1135): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265 | 1 | 418 | 0.0024 | 1142 | c.119 others(1161): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
LARS1_chr5_146108034_146187650 | 146174593 | T | TATATATC others(1135): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0202 | 1 | 284 | 0.0035 | 1142 | c.126 others(1159): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 2/31 | chr5 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(1135): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 | 1 | 456 | 0.0022 | 1142 | c.*31 others(1153): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGGGA others(1135): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0013 | a0013c0059 | a0013c0059t0001 | a0013c0059t0001g0130 | 1 | 308 | 0.0033 | 1142 | c.371 others(1159): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCATCCAC others(1135): Show |
intron_variant | MODIFIER | HG02129.hp2 HG02165.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0021 | a0001c0002t0002g0113a0001c0002t0021g0105 | 2 | 370 | 0.0054 | 1142 | c.438 others(1159): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | ||||||
RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCATCCAC others(1135): Show |
intron_variant | MODIFIER | HG01123.hp2 HG02486.hp2 |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0036 | a0001c0002t0006g0047a0001c0002t0036g0133 | 2 | 370 | 0.0054 | 1142 | c.438 others(1159): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | ||||||
RGN_chrX_47073443_47098313 | 47089400 | A | AATATATT others(1135): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0087a0001c0001t0002g0090 | 2 | 304 | 0.0066 | 1142 | c.347 others(1157): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
RPTOR_chr17_80539838_80971368 | 80930448 | T | TCAGCTCA others(1135): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01081.hp1 HG01081.hp2 others(21): Show |
a0001a0003a0004 | a0001c0002a0001c0003a0001c0004others(13): Show | a0001c0002t0015a0001c0003t0001a0001c0003t0004others(18): Show | a0001c0002t0015g0086a0001c0003t0001g0182a0001c0003t0001g0186others(21): Show | 24 | 196 | 0.1225 | 1142 | c.291 others(1161): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 24/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RUSC2_chr9_35485111_35566895 | 35495152 | C | CTATAGTA others(1135): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0034 | 1 | 322 | 0.0031 | 1142 | c.-93 others(1159): Show |
RUSC2 | ENSG00000198853.12 | transcript | ENST00000361226.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SEL1L2_chr20_13844247_13995614 | 13934476 | C | CATATATA others(1135): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 324 | 0.0031 | 1142 | c.115 others(1159): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 246325098 | C | CGCGGGGG others(1135): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0026 | 1 | 150 | 0.0067 | 1142 | c.531 others(1159): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
TTLL11_chr9_121810674_122098308 | 121895759 | T | TTGTGTGT others(1135): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01168.hp1 HG01361.hp1 others(9): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0002a0004c0005others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0016others(5): Show | a0001c0001t0002g0114a0001c0001t0002g0143a0001c0001t0003g0103others(9): Show | 12 | 174 | 0.0690 | 1142 | c.148 others(1163): Show |
TTLL11 | ENSG00000175764.17 | transcript | ENST00000321582.11 | protein_coding | 6/8 | chr9 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | ACACCCAC others(1136): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0174 | 1 | 248 | 0.0040 | 1143 | c.387 others(1162): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100011300 | G | GGGGAGGG others(1136): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0028 | 1 | 228 | 0.0044 | 1143 | c.259 others(1164): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113424685 | T | TATCCACC others(1136): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0099 | 1 | 262 | 0.0038 | 1143 | c.775 others(1158): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 5/7 | chr13 | TogoVar | ||||||
ARHGAP19_chr10_97217179_97297637 | 97251448 | G | GGAAGGGG others(1136): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006 | 1 | 242 | 0.0041 | 1143 | c.927 others(1160): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | ||||||
ARHGAP19_chr10_97217179_97297637 | 97251500 | A | AAGGGGAA others(1136): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 242 | 0.0041 | 1143 | c.927 others(1160): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | ||||||
ARHGAP19_chr10_97217179_97297637 | 97251500 | A | AAGGGGAA others(1136): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 242 | 0.0041 | 1143 | c.927 others(1160): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 835408 | G | GCCACCCC others(1136): Show |
downstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0015 | 1 | 391 | 0.0026 | 1143 | c.*35 others(1154): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3391 | chr19 | TogoVar | ||||||
CCDC88C_chr14_91266323_91422820 | 91293509 | C | CTCACCTT others(1136): Show |
intron_variant | MODIFIER | HG01123.hp2 HG02148.hp1 |
a0001 | a0001c0006 | a0001c0006t0001a0001c0006t0003 | a0001c0006t0001g0191a0001c0006t0003g0277 | 2 | 284 | 0.0070 | 1143 | c.411 others(1160): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239412305 | T | TCCTCCCT others(1136): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0055 | 1 | 116 | 0.0086 | 1143 | c.-52 others(1164): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CHRM3_chr1_239381568_239920450 | 239412305 | T | TCCTCCCT others(1136): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 116 | 0.0086 | 1143 | c.-52 others(1164): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGA others(1136): Show |
intron_variant | MODIFIER | NA18951.hp1 NA18968.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 2 | 418 | 0.0048 | 1143 | c.119 others(1162): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGA others(1136): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0004 | a0001c0004t0010 | a0001c0004t0010g0047 | 1 | 418 | 0.0024 | 1143 | c.119 others(1162): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGG others(1136): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02109.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0011a0001c0001t0001g0093a0001c0001t0001g0207others(18): Show | 22 | 418 | 0.0526 | 1143 | c.119 others(1162): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGG others(1136): Show |
intron_variant | MODIFIER | HG02735.hp2 NA19054.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009 | a0001c0001t0004g0085a0001c0001t0009g0297 | 2 | 418 | 0.0048 | 1143 | c.119 others(1162): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77252896 | T | TCACCACC others(1136): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0004 | a0001c0004t0018 | a0001c0004t0018g0332 | 1 | 366 | 0.0027 | 1143 | c.666 others(1160): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
GTPBP6_chrX_299759_323796 | 316301 | G | GACACACA others(1136): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00733.hp2 others(10): Show |
a0002 | a0002c0002a0002c0005 | a0002c0002t0001a0002c0002t0002a0002c0005t0002 | a0002c0002t0001g0109a0002c0002t0001g0122a0002c0002t0001g0124others(10): Show | 13 | 155 | 0.0839 | 1143 | c.487 others(1158): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 316301 | G | GACACACA others(1136): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0074 | 1 | 155 | 0.0065 | 1143 | c.487 others(1158): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | ||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(1136): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 350 | 0.0029 | 1143 | c.94- others(1156): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar |