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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SNPH_chr20_1261294_1314327 | 1302096 | A | ATTTCTAA others(1131): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0105 | 1 | 350 | 0.0029 | 1138 | c.440 others(1155): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SNPH_chr20_1261294_1314327 | 1302498 | A | ATTTCTAA others(1131): Show |
intron_variant | MODIFIER | NA18963.hp2 NA18986.hp1 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0090a0001c0001t0002g0144a0001c0001t0002g0190 | 3 | 350 | 0.0086 | 1138 | c.440 others(1155): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SNPH_chr20_1261294_1314327 | 1302498 | A | ATTTCTAA others(1131): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0257a0001c0001t0002g0312 | 2 | 350 | 0.0057 | 1138 | c.440 others(1155): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SNPH_chr20_1261294_1314327 | 1302498 | A | ATTTCTAA others(1131): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0217 | 1 | 350 | 0.0029 | 1138 | c.440 others(1155): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SNPH_chr20_1261294_1314327 | 1302498 | A | ATTTCTAA others(1131): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00544.hp1 others(72): Show |
a0001a0009 | a0001c0001a0001c0002a0001c0011others(2): Show | a0001c0001t0002a0001c0001t0013a0001c0001t0020others(8): Show | a0001c0001t0002g0001a0001c0001t0002g0004a0001c0001t0002g0012others(69): Show | 75 | 350 | 0.2143 | 1138 | c.440 others(1155): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SNPH_chr20_1261294_1314327 | 1302498 | A | ATTTCTAA others(1131): Show |
intron_variant | MODIFIER | NA18959.hp1 NA18983.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0127a0001c0001t0002g0128 | 2 | 350 | 0.0057 | 1138 | c.440 others(1155): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SNPH_chr20_1261294_1314327 | 1302498 | A | ATTTCTAA others(1131): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0242 | 1 | 350 | 0.0029 | 1138 | c.440 others(1155): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SNPH_chr20_1261294_1314327 | 1302498 | A | ATTTCTAA others(1131): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 | 2 | 350 | 0.0057 | 1138 | c.440 others(1155): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SPATC1L_chr21_46156160_46189459 | 46184617 | C | CCAACCCA others(1131): Show |
upstream_gene_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0060 | 1 | 251 | 0.0040 | 1138 | c.-12 others(1149): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 159 | chr21 | TogoVar | ||||||
SPATC1L_chr21_46156160_46189459 | 46184617 | C | CCAACCCA others(1131): Show |
upstream_gene_variant | MODIFIER | HG03492.hp1 HG03831.hp2 |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0020 | a0001c0001t0019g0062a0001c0001t0020g0063 | 2 | 251 | 0.0080 | 1138 | c.-12 others(1149): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 159 | chr21 | TogoVar | ||||||
SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(1131): Show |
downstream_gene_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 422 | 0.0024 | 1138 | c.*64 others(1149): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | ||||||
TTLL11_chr9_121810674_122098308 | 121895759 | T | TTGTGTGT others(1131): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0004 | a0004c0005 | a0004c0005t0030 | a0004c0005t0030g0045 | 1 | 174 | 0.0058 | 1138 | c.148 others(1159): Show |
TTLL11 | ENSG00000175764.17 | transcript | ENST00000321582.11 | protein_coding | 6/8 | chr9 | TogoVar | ||||||
TTLL11_chr9_121810674_122098308 | 121895759 | T | TTGTGTGT others(1131): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02280.hp2 HG02965.hp2 others(1): Show |
a0001a0010 | a0001c0001a0010c0010 | a0001c0001t0010a0010c0010t0008 | a0001c0001t0010g0056a0001c0001t0010g0057a0001c0001t0010g0058others(1): Show | 4 | 174 | 0.0230 | 1138 | c.148 others(1159): Show |
TTLL11 | ENSG00000175764.17 | transcript | ENST00000321582.11 | protein_coding | 6/8 | chr9 | TogoVar | ||||||
TTLL8_chr22_50013575_50063298 | 50028754 | C | CCCCCACA others(1131): Show |
intron_variant | MODIFIER | NA19066.hp1 NA19070.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0156a0003c0003t0001g0157 | 2 | 224 | 0.0089 | 1138 | c.225 others(1157): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | ||||||
ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(1131): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 246 | 0.0041 | 1138 | c.-10 others(1155): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20668924 | A | AGGAAGTG others(1132): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0010 | a0010c0042 | a0010c0042t0004 | a0010c0042t0004g0120 | 1 | 360 | 0.0028 | 1139 | c.170 others(1160): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20668924 | A | AGGAAGTG others(1132): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0012 | a0002c0012t0001 | a0002c0012t0001g0121 | 1 | 360 | 0.0028 | 1139 | c.170 others(1160): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20668975 | G | GGGGGGGG others(1132): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0156 | 1 | 360 | 0.0028 | 1139 | c.170 others(1160): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20669003 | C | CGCCCCAT others(1132): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0002 | a0002c0014 | a0002c0014t0001 | a0002c0014t0001g0235 | 1 | 360 | 0.0028 | 1139 | c.170 others(1160): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20669003 | C | CGCCCCAT others(1132): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0002 | a0002c0003 | a0002c0003t0007 | a0002c0003t0007g0033 | 1 | 360 | 0.0028 | 1139 | c.170 others(1160): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ADCY8_chr8_130775301_131045909 | 130897690 | T | TACACACC others(1132): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0017 | a0001c0017t0002 | a0001c0017t0002g0099 | 1 | 246 | 0.0041 | 1139 | c.191 others(1158): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 7/17 | chr8 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 344420 | G | GGTGTGTG others(1132): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0002 | a0002c0002 | a0002c0002t0019 | a0002c0002t0019g0007 | 1 | 268 | 0.0037 | 1139 | c.62+ others(1152): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ARHGEF10L_chr1_17534698_17702869 | 17689483 | C | CCCTCCCT others(1132): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 168 | 0.0060 | 1139 | c.318 others(1158): Show |
ARHGEF10L | ENSG00000074964.17 | transcript | ENST00000361221.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CABP5_chr19_48024383_48049079 | 48043533 | C | CCACCATC others(1132): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp2 others(34): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0007a0001c0001t0047others(10): Show | a0001c0001t0002g0231a0001c0001t0007g0230a0001c0001t0047g0246others(23): Show | 37 | 376 | 0.0984 | 1139 | c.63+ others(1152): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
CCDC127_chr5_191868_223153 | 209326 | C | CCACACAC others(1132): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0292 | 1 | 406 | 0.0025 | 1139 | c.122 others(1156): Show |
CCDC127 | ENSG00000164366.4 | transcript | ENST00000296824.4 | protein_coding | 2/2 | chr5 | TogoVar | ||||||
CECR2_chr22_17364460_17563151 | 17432004 | T | TGACATTT others(1132): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0003 | 1 | 324 | 0.0031 | 1139 | c.127 others(1158): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CECR2_chr22_17364460_17563151 | 17432004 | T | TGACATTT others(1132): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01168.hp1 HG01169.hp2 others(25): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0008a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0089a0001c0001t0001g0226a0001c0001t0002g0027others(25): Show | 28 | 324 | 0.0864 | 1139 | c.127 others(1158): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CECR2_chr22_17364460_17563151 | 17432004 | T | TGACATTT others(1132): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0307 | 1 | 324 | 0.0031 | 1139 | c.127 others(1158): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CHRM3_chr1_239381568_239920450 | 239412303 | T | TTTCCTCC others(1132): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0082 | 1 | 116 | 0.0086 | 1139 | c.-52 others(1160): 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(1132): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0060 | 1 | 116 | 0.0086 | 1139 | c.-52 others(1160): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CPM_chr12_68846175_68938171 | 68898148 | C | CTGGCCTG others(1132): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 340 | 0.0029 | 1139 | c.161 others(1158): Show |
CPM | ENSG00000135678.12 | transcript | ENST00000551568.6 | protein_coding | 2/8 | chr12 | TogoVar | ||||||
CYLC1_chrX_83856146_83891698 | 83878192 | T | TATATATA others(1132): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0076 | 1 | 208 | 0.0048 | 1139 | c.192 others(1158): Show |
CYLC1 | ENSG00000183035.13 | transcript | ENST00000329312.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DGKB_chr7_14140049_14907751 | 14471354 | G | GTATATAT others(1132): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0094 | 1 | 148 | 0.0068 | 1139 | c.183 others(1158): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1132): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0132 | a0132c0224 | a0132c0224t0001 | a0132c0224t0001g0120 | 1 | 252 | 0.0040 | 1139 | c.118 others(1158): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
INPP5A_chr10_132532787_132788480 | 132775188 | G | GGGGCAGG others(1132): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 204 | 0.0049 | 1139 | c.978 others(1156): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
INPP5A_chr10_132532787_132788480 | 132775188 | G | GGGGCAGG others(1132): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0050 | 1 | 204 | 0.0049 | 1139 | c.978 others(1156): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LAMA5_chr20_62304065_62372312 | 62360489 | T | TGGGTGGA others(1132): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0002 | a0002c0012 | a0002c0012t0001 | a0002c0012t0001g0075 | 1 | 186 | 0.0054 | 1139 | c.450 others(1156): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 2/79 | chr20 | TogoVar | ||||||
MYLK4_chr6_2658637_2755922 | 2694524 | G | GTGGTGGT others(1132): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0173 | 1 | 384 | 0.0026 | 1139 | c.160 others(1156): Show |
MYLK4 | ENSG00000145949.12 | transcript | ENST00000274643.9 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
NT5C1A_chr1_39646229_39677107 | 39664497 | T | TCCTCTCC others(1132): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0016 | 1 | 326 | 0.0031 | 1139 | c.433 others(1156): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | ||||||
PLA2G4C_chr19_48042846_48115817 | 48043533 | C | CCACCATC others(1132): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00673.hp1 others(30): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0034a0001c0047others(17): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(23): Show | a0001c0001t0001g0033a0001c0001t0001g0046a0001c0001t0004g0029others(30): Show | 33 | 322 | 0.1025 | 1139 | c.*48 others(1150): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 4312 | chr19 | TogoVar | ||||||
RAB37_chr17_74732256_74752335 | 74733484 | G | GTGTGTGG others(1132): Show |
upstream_gene_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0062 | 1 | 432 | 0.0023 | 1139 | c.-37 others(1150): Show |
RAB37 | ENSG00000172794.20 | transcript | ENST00000392613.10 | protein_coding | 3771 | chr17 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30388495 | A | ATAACTTA others(1132): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0272 | 1 | 304 | 0.0033 | 1139 | c.66+ others(1154): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RBPMS_chr8_30379541_30577256 | 30388495 | A | ATAACTTA others(1132): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0273 | 1 | 304 | 0.0033 | 1139 | c.66+ others(1154): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RPH3AL_chr17_207389_357807 | 254479 | T | TGTGACTA others(1132): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0073 | 1 | 133 | 0.0075 | 1139 | c.439 others(1156): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 256344 | A | ATCCCTAG others(1132): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0101 | 1 | 133 | 0.0075 | 1139 | c.439 others(1156): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 257751 | G | GTCCCTAG others(1132): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0132 | 1 | 133 | 0.0075 | 1139 | c.439 others(1158): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | ||||||
RPS6KA2_chr6_166404364_166632251 | 166450744 | C | CCACCATG others(1132): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0049 | a0001c0049t0022 | a0001c0049t0022g0001 | 1 | 244 | 0.0041 | 1139 | c.120 others(1156): Show |
RPS6KA2 | ENSG00000071242.12 | transcript | ENST00000265678.9 | protein_coding | 13/20 | chr6 | TogoVar | ||||||
RPS6KA2_chr6_166404364_166632251 | 166450744 | C | CCACCATG others(1132): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0060 | a0001c0060t0016 | a0001c0060t0016g0200 | 1 | 244 | 0.0041 | 1139 | c.120 others(1156): Show |
RPS6KA2 | ENSG00000071242.12 | transcript | ENST00000265678.9 | protein_coding | 13/20 | chr6 | TogoVar | ||||||
RPS6KA2_chr6_166404364_166632251 | 166450744 | C | CCACCATG others(1132): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01123.hp2 HG01361.hp1 others(7): Show |
a0001 | a0001c0014a0001c0021a0001c0039others(1): Show | a0001c0014t0001a0001c0014t0003a0001c0014t0038others(4): Show | a0001c0014t0001g0100a0001c0014t0001g0106a0001c0014t0001g0111others(7): Show | 10 | 244 | 0.0410 | 1139 | c.120 others(1156): Show |
RPS6KA2 | ENSG00000071242.12 | transcript | ENST00000265678.9 | protein_coding | 13/20 | chr6 | TogoVar | ||||||
SCUBE1_chr22_43192280_43348372 | 43339755 | C | CCCCCACT others(1132): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0131 | 1 | 280 | 0.0036 | 1139 | c.89- others(1152): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar |