| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ZSCAN32_chr16_3377085_3406004 | 3393202 | T | TTCTATAT others(469): Show |
intron_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0247 | 1 | 59 | 0.0169 | 476 | c.532 others(491): Show |
ZSCAN32 | ENSG00000140987.21 | transcript | ENST00000396852.9 | protein_coding | 3/6 | chr16 | TogoVar | |||||||
| ABR_chr17_998519_1184981 | 1173247 | A | ACATCACC others(470): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0150 | 1 | 202 | 0.0050 | 477 | c.61+ others(492): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
| ACR_chr22_50733204_50750339 | 50748482 | A | ATCCGAGG others(470): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 HG02071.hp1 HG02129.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0048 |
5 | 352 | 0.0142 | 477 | c.*32 others(488): Show |
ACR | ENSG00000100312.11 | transcript | ENST00000216139.10 | protein_coding | 3144 | chr22 | TogoVar | |||||||
| ACR_chr22_50733204_50750339 | 50748482 | A | ATCCGAGG others(470): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00733.hp2 HG01358.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0004 a0001c0001t0001g0051 a0002c0002t0001g0001 others(1): Show |
5 | 352 | 0.0142 | 477 | c.*32 others(488): Show |
ACR | ENSG00000100312.11 | transcript | ENST00000216139.10 | protein_coding | 3144 | chr22 | TogoVar | |||||||
| ACR_chr22_50733204_50750339 | 50748482 | A | ATCCGAGG others(470): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG02148.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 2 | 349 | 0.0057 | 477 | c.*32 others(488): Show |
ACR | ENSG00000100312.11 | transcript | ENST00000216139.10 | protein_coding | 3144 | chr22 | TogoVar | |||||||
| AHRR_chr5_316714_443285 | 318182 | C | CCTCTCGC others(470): Show |
upstream_gene_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0041 | 1 | 256 | 0.0039 | 477 | c.-36 others(488): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3531 | chr5 | TogoVar | |||||||
| ANKLE2_chr12_132720503_132766832 | 132729611 | T | TGAGGGGA others(470): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00438.hp2 others(41): Show |
a0001a0005a0013 | a0001c0001a0001c0012a0005c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0040 others(36): Show |
44 | 180 | 0.2444 | 477 | c.248 others(492): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 11/12 | chr12 | TogoVar | |||||||
| ARHGEF10_chr8_1818926_1963641 | 1824952 | T | TCCCCGCA others(470): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0199 | 1 | 192 | 0.0052 | 477 | c.-48 others(492): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| ARHGEF10_chr8_1818926_1963641 | 1825105 | C | CCCCCCGC others(470): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0011 | a0001c0011t0006 | a0001c0011t0006g0121 | 1 | 328 | 0.0030 | 477 | c.-48 others(492): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| ARHGEF10_chr8_1818926_1963641 | 1825116 | C | CCCACCTG others(470): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0016 | a0016c0107 | a0016c0107t0003 | a0016c0107t0003g0130 | 1 | 327 | 0.0031 | 477 | c.-48 others(494): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | chr8 | TogoVar | |||||||
| ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(470): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0074 | 1 | 50 | 0.0200 | 477 | c.147 others(494): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| ASTN2_chr9_116418112_117420057 | 116840551 | G | GGGGGCTG others(470): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02922.hp2 HG02965.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0037 a0001c0001t0002g0018 a0001c0002t0001g0033 |
3 | 15 | 0.2000 | 477 | c.204 others(498): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 11/22 | chr9 | TogoVar | |||||||
| ASTN2_chr9_116418112_117420057 | 116840551 | G | GGGGGCTG others(470): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0071 | 1 | 13 | 0.0769 | 477 | c.204 others(498): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 11/22 | chr9 | TogoVar | |||||||
| ASTN2_chr9_116418112_117420057 | 116840551 | G | GGGGGCTG others(470): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0084 | 1 | 13 | 0.0769 | 477 | c.204 others(498): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 11/22 | chr9 | TogoVar | |||||||
| ATP10B_chr5_160558120_160857211 | 160653921 | A | AATATATG others(470): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0004 | a0004c0009 | a0004c0009t0001 | a0004c0009t0001g0061 | 1 | 98 | 0.0102 | 477 | c.676 others(494): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | |||||||
| ATP10B_chr5_160558120_160857211 | 160653921 | A | AATATATG others(470): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02622.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0007a0001c0002t0011 | a0001c0002t0007g0213 a0001c0002t0007g0224 a0001c0002t0007g0225 others(3): Show |
6 | 103 | 0.0583 | 477 | c.676 others(494): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | |||||||
| ATP11A_chr13_112685038_112892168 | 112723285 | T | TCCCCACC others(470): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0002 | a0002c0010 | a0002c0010t0042 | a0002c0010t0042g0221 | 1 | 5 | 0.2000 | 477 | c.39+ others(494): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
| B4GALNT4_chr11_364499_387117 | 374715 | G | GGGAAGGG others(470): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 78 | 0.0128 | 477 | c.784 others(492): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| BRF1_chr14_105204286_105306001 | 105276137 | C | CGGCCCTC others(470): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 61 | 0.0164 | 477 | c.266 others(494): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 2/17 | chr14 | TogoVar | |||||||
| C17orf67_chr17_56786913_56838920 | 56792819 | G | GTGATGGT others(470): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 229 | 0.0044 | 477 | c.*21 others(492): Show |
C17orf67 | ENSG00000214226.9 | transcript | ENST00000397861.7 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
| CACNA1H_chr16_1148106_1226768 | 1185911 | G | GGTCGGCG others(470): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0123 | 1 | 301 | 0.0033 | 477 | c.300 others(494): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| CCDC183_chr9_136791338_136812741 | 136803145 | G | GCCGGGGG others(470): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0010 | a0010c0012 | a0010c0012t0002 | a0010c0012t0002g0223 | 1 | 218 | 0.0046 | 477 | c.666 others(492): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| CCDC183_chr9_136791338_136812741 | 136803147 | T | TGGGGGCC others(470): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0008 | a0008c0008 | a0008c0008t0002 | a0008c0008t0002g0067 | 1 | 109 | 0.0092 | 477 | c.666 others(492): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| CCDC57_chr17_82096470_82217842 | 82215648 | T | TTCCTTCC others(470): Show |
upstream_gene_variant | MODIFIER | HG00642.hp2 HG00735.hp1 HG01243.hp1 others(35): Show |
a0001a0002a0010others(2): Show | a0001c0023a0002c0002a0010c0015others(2): Show | a0001c0023t0001a0002c0002t0001a0002c0002t0006others(3): Show | a0001c0023t0001g0212 a0002c0002t0001g0199 a0002c0002t0001g0200 others(35): Show |
38 | 40 | 0.9500 | 477 | c.-28 others(488): Show |
CCDC57 | ENSG00000176155.21 | transcript | ENST00000694881.1 | protein_coding | 2807 | chr17 | TogoVar | |||||||
| CD247_chr1_167425640_167523529 | 167435070 | T | TTCCTCCG others(470): Show |
intron_variant | MODIFIER | NA18942.hp1 NA18991.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 a0001c0001t0001g0136 |
2 | 241 | 0.0083 | 477 | c.336 others(492): Show |
CD247 | ENSG00000198821.12 | transcript | ENST00000362089.10 | protein_coding | 5/7 | chr1 | TogoVar | |||||||
| CDC42SE2_chr5_131259053_131399672 | 131278741 | C | CCCCCTTC others(470): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0256 | 1 | 12 | 0.0833 | 477 | c.-45 others(498): Show |
CDC42SE2 | ENSG00000158985.14 | transcript | ENST00000505065.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| CHODL_chr21_18239833_18272370 | 18251498 | A | ATATTTAT others(470): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01261.hp2 HG01361.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0166 |
5 | 96 | 0.0521 | 477 | c.80- others(492): Show |
CHODL | ENSG00000154645.14 | transcript | ENST00000299295.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
| CHODL_chr21_18239833_18272370 | 18251498 | A | ATATTTAT others(470): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 92 | 0.0109 | 477 | c.80- others(492): Show |
CHODL | ENSG00000154645.14 | transcript | ENST00000299295.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
| COL19A1_chr6_69861556_70217468 | 69920979 | T | TGATATAT others(470): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0002 | a0002c0011 | a0002c0011t0005 | a0002c0011t0005g0021 | 1 | 150 | 0.0067 | 477 | c.267 others(494): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | chr6 | TogoVar | |||||||
| COL5A3_chr19_9954561_10015504 | 9970419 | G | GCTGTGGG others(470): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0007 | a0007c0082 | a0007c0082t0007 | a0007c0082t0007g0182 | 1 | 292 | 0.0034 | 477 | c.393 others(494): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 54/66 | chr19 | TogoVar | |||||||
| CSMD1_chr8_2930361_4999914 | 4174757 | T | TGAGGAAG others(470): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0004 | a0001c0004t0020 | a0001c0004t0020g0086 | 1 | 16 | 0.0625 | 477 | c.416 others(498): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
| DAZAP1_chr19_1402586_1440684 | 1420072 | C | TGAACGTC others(470): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0054 | 1 | 327 | 0.0031 | 477 | c.304 others(494): Show |
DAZAP1 | ENSG00000071626.17 | transcript | ENST00000233078.9 | protein_coding | 4/11 | chr19 | TogoVar | |||||||
| DAZAP1_chr19_1402586_1440684 | 1420334 | C | CCCCGAAC others(470): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02027.hp2 HG02135.hp1 |
a0001 | a0001c0002 | a0001c0002t0009a0001c0002t0012a0001c0002t0020 | a0001c0002t0009g0122 a0001c0002t0012g0114 a0001c0002t0020g0117 |
3 | 353 | 0.0085 | 477 | c.304 others(492): Show |
DAZAP1 | ENSG00000071626.17 | transcript | ENST00000233078.9 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| DCLK2_chr4_150073445_150262438 | 150250869 | A | AACACTCC others(470): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0080 | 1 | 114 | 0.0088 | 477 | c.207 others(496): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | chr4 | TogoVar | |||||||
| DHRSX_chrX_2214506_2505976 | 2314227 | A | AAGGAGGG others(470): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0031 | 1 | 22 | 0.0455 | 477 | c.287 others(496): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
| DIP2C_chr10_269201_694668 | 478383 | G | GGAGGGAG others(470): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0080 | 1 | 57 | 0.0175 | 477 | c.158 others(494): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | |||||||
| DLGAP2_chr8_732628_1713476 | 978459 | C | CGTGGGGA others(470): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0022 | a0001c0002t0022g0034 | 1 | 20 | 0.0500 | 477 | c.73+ others(494): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 978618 | C | CGTGGGGA others(470): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0009 | 1 | 38 | 0.0263 | 477 | c.73+ others(494): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| DOCK8_chr9_209865_470255 | 400719 | C | CCACCACC others(470): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0130 | 1 | 161 | 0.0062 | 477 | c.323 others(496): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| EEF1A2_chr20_63483014_63504083 | 63486887 | C | CCTGCCCA others(470): Show |
downstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 366 | 0.0027 | 477 | c.*14 others(488): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1126 | chr20 | TogoVar | |||||||
| EEF1A2_chr20_63483014_63504083 | 63486940 | C | CTTCCCCC others(470): Show |
downstream_gene_variant | MODIFIER | HG02559.hp2 HG02717.hp1 HG02895.hp1 others(3): Show |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0010 a0001c0005t0001g0116 a0001c0005t0001g0135 |
6 | 57 | 0.1053 | 477 | c.*13 others(488): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1073 | chr20 | TogoVar | |||||||
| EEF1A2_chr20_63483014_63504083 | 63486940 | C | CTTCCCCC others(470): Show |
downstream_gene_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0191 | 1 | 52 | 0.0192 | 477 | c.*13 others(488): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1073 | chr20 | TogoVar | |||||||
| EEF1A2_chr20_63483014_63504083 | 63486940 | C | CTTCCCCC others(470): Show |
downstream_gene_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0072 | 1 | 52 | 0.0192 | 477 | c.*13 others(488): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1073 | chr20 | TogoVar | |||||||
| EIF2B3_chr1_44845522_44991595 | 44876573 | T | TGGGGGTC others(470): Show |
intron_variant | MODIFIER | NA18944.hp2 NA18969.hp1 NA18971.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 others(3): Show |
6 | 7 | 0.8571 | 477 | c.976 others(492): Show |
EIF2B3 | ENSG00000070785.17 | transcript | ENST00000360403.7 | protein_coding | 8/11 | chr1 | TogoVar | |||||||
| EML1_chr14_99788413_99947060 | 99927877 | C | CGGTGGTG others(470): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03195.hp2 NA19240.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0242 a0001c0003t0001g0243 a0001c0003t0001g0244 |
3 | 276 | 0.0109 | 477 | c.190 others(496): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
| FMN2_chr1_240086883_240480187 | 240185174 | T | TTCCCCCT others(470): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0126 | a0001c0126t0001 | a0001c0126t0001g0137 | 1 | 161 | 0.0062 | 477 | c.193 others(496): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| GABRA3_chrX_152161234_152456315 | 152182738 | C | CACTATAT others(470): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 55 | 0.0182 | 477 | c.114 others(496): Show |
GABRA3 | ENSG00000011677.13 | transcript | ENST00000370314.9 | protein_coding | 9/9 | chrX | TogoVar | |||||||
| GABRA3_chrX_152161234_152456315 | 152182738 | C | CACTATAT others(470): Show |
intron_variant | MODIFIER | HG00609.hp1 NA19005.hp1 NA19068.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0138 others(1): Show |
4 | 58 | 0.0690 | 477 | c.114 others(496): Show |
GABRA3 | ENSG00000011677.13 | transcript | ENST00000370314.9 | protein_coding | 9/9 | chrX | TogoVar | |||||||
| GLIS1_chr1_53501239_53744164 | 53525463 | A | AGGCTGGG others(470): Show |
intron_variant | MODIFIER | HG03486.hp1 NA20129.hp2 |
a0004a0009 | a0004c0027a0009c0012 | a0004c0027t0003a0009c0012t0004 | a0004c0027t0003g0004 a0009c0012t0004g0176 |
2 | 130 | 0.0154 | 477 | c.148 others(494): Show |
GLIS1 | ENSG00000174332.6 | transcript | ENST00000628545.2 | protein_coding | 5/10 | chr1 | TogoVar | |||||||
| IQSEC3_chr12_61767_183455 | 163272 | C | CCCTCCCT others(470): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0023 | a0023c0027 | a0023c0027t0035 | a0023c0027t0035g0040 | 1 | 213 | 0.0047 | 477 | c.258 others(494): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |