| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ATP10A_chr15_25673712_25868327 | 25758236 | C | CCACCTGC others(245): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0022 | 1 | 300 | 0.0033 | 252 | c.655 others(271): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
| ATP11A_chr13_112685038_112892168 | 112804042 | T | TCCCCTCC others(245): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 254 | 0.0039 | 252 | c.163 others(267): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP11A_chr13_112685038_112892168 | 112804147 | G | GCCCTCCT others(245): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0004 | a0001c0004t0042 | a0001c0004t0042g0057 | 1 | 254 | 0.0039 | 252 | c.163 others(267): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP9B_chr18_79064394_79383283 | 79309050 | A | AGCAGGTA others(245): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0005 | a0002c0005t0004 | a0002c0005t0004g0184 | 1 | 298 | 0.0034 | 252 | c.177 others(271): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 15/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| ATP9B_chr18_79064394_79383283 | 79309247 | G | GGGTTGAG others(245): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00733.hp2 HG00741.hp1 others(13): Show |
a0002a0017 | a0002c0002a0002c0033a0017c0019 | a0002c0002t0002a0002c0002t0003a0002c0033t0002others(1): Show | a0002c0002t0002g0188a0002c0002t0002g0205a0002c0002t0002g0206others(13): Show | 16 | 298 | 0.0537 | 252 | c.177 others(271): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 15/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| ATP9B_chr18_79064394_79383283 | 79309250 | C | CTGAGGAG others(245): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0095 | 1 | 298 | 0.0034 | 252 | c.177 others(271): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 15/29 | chr18 | TogoVar | ||||||
| ATP9B_chr18_79064394_79383283 | 79309646 | C | CTGAGGAG others(245): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01346.hp1 NA18949.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0015a0002c0005 | a0001c0001t0001a0001c0015t0001a0002c0005t0001 | a0001c0001t0001g0004a0001c0001t0001g0043a0001c0001t0001g0045others(8): Show | 11 | 298 | 0.0369 | 252 | c.177 others(271): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 15/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| B4GALNT4_chr11_364499_387117 | 375001 | G | GAGGGAGG others(245): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 184 | 0.0054 | 252 | c.784 others(267): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| BAIAP2L1_chr7_98286650_98406090 | 98400363 | G | GGGAGGGA others(245): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0145 | 1 | 298 | 0.0034 | 252 | c.51+ others(265): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 1/13 | chr7 | TogoVar | ||||||
| BAIAP2L1_chr7_98286650_98406090 | 98400363 | G | GGGAGGGA others(245): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0137 | 1 | 298 | 0.0034 | 252 | c.51+ others(265): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 1/13 | chr7 | TogoVar | ||||||
| BCL11A_chr2_60452194_60558654 | 60467822 | A | ATGGTGGT others(245): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0218 | 1 | 262 | 0.0038 | 252 | c.487 others(267): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | ||||||
| BRSK2_chr11_1384934_1467689 | 1396175 | G | GCTCCTGG others(245): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0332a0001c0001t0028g0333 | 2 | 360 | 0.0056 | 252 | c.91+ others(267): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| BRSK2_chr11_1384934_1467689 | 1396185 | T | TCTCTTCC others(245): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0166 | 1 | 360 | 0.0028 | 252 | c.91+ others(267): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| BRSK2_chr11_1384934_1467689 | 1396221 | C | CCTCTTCC others(245): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0002 | a0002c0002 | a0002c0002t0069 | a0002c0002t0069g0231 | 1 | 360 | 0.0028 | 252 | c.91+ others(267): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| BRSK2_chr11_1384934_1467689 | 1396221 | C | CCTCTTCC others(245): Show |
intron_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0096 | 1 | 360 | 0.0028 | 252 | c.91+ others(267): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| BRSK2_chr11_1384934_1467689 | 1396221 | C | CCTCTTCC others(245): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0304 | 1 | 360 | 0.0028 | 252 | c.91+ others(267): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| BRSK2_chr11_1384934_1467689 | 1396221 | C | CCTCTTCC others(245): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0237 | 1 | 360 | 0.0028 | 252 | c.91+ others(267): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| BTAF1_chr10_91918770_92036437 | 92012233 | C | CCTCCTCC others(245): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01516.hp2 HG01517.hp1 others(1): Show |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0003a0005c0009t0003 | a0001c0001t0003g0195a0001c0001t0003g0200a0001c0001t0003g0213others(1): Show | 4 | 330 | 0.0121 | 252 | c.431 others(269): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 30/37 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| C10orf90_chr10_126419997_126675693 | 126564843 | T | TAATATAT others(245): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0180 | 1 | 218 | 0.0046 | 252 | c.314 others(271): Show |
C10orf90 | ENSG00000154493.20 | transcript | ENST00000488181.3 | protein_coding | 2/9 | chr10 | TogoVar | ||||||
| C10orf90_chr10_126419997_126675693 | 126564843 | T | TAATATAT others(245): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 218 | 0.0046 | 252 | c.314 others(271): Show |
C10orf90 | ENSG00000154493.20 | transcript | ENST00000488181.3 | protein_coding | 2/9 | chr10 | TogoVar | ||||||
| C10orf90_chr10_126419997_126675693 | 126564843 | T | TAATATAT others(245): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01167.hp1 HG01167.hp2 others(5): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0002c0004others(1): Show | a0001c0001t0001a0002c0003t0004a0002c0004t0002others(2): Show | a0001c0001t0001g0079a0001c0001t0001g0194a0002c0003t0004g0080others(5): Show | 8 | 218 | 0.0367 | 252 | c.314 others(271): Show |
C10orf90 | ENSG00000154493.20 | transcript | ENST00000488181.3 | protein_coding | 2/9 | chr10 | TogoVar | ||||||
| C10orf90_chr10_126419997_126675693 | 126564843 | T | TAATATAT others(245): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0100 | 1 | 218 | 0.0046 | 252 | c.314 others(271): Show |
C10orf90 | ENSG00000154493.20 | transcript | ENST00000488181.3 | protein_coding | 2/9 | chr10 | TogoVar | ||||||
| C10orf90_chr10_126419997_126675693 | 126564843 | T | TAATATAT others(245): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 218 | 0.0046 | 252 | c.314 others(271): Show |
C10orf90 | ENSG00000154493.20 | transcript | ENST00000488181.3 | protein_coding | 2/9 | chr10 | TogoVar | ||||||
| C10orf90_chr10_126419997_126675693 | 126565147 | A | ATATGTAA others(245): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0006 | a0006c0007 | a0006c0007t0003 | a0006c0007t0003g0119 | 1 | 218 | 0.0046 | 252 | c.314 others(271): Show |
C10orf90 | ENSG00000154493.20 | transcript | ENST00000488181.3 | protein_coding | 2/9 | chr10 | TogoVar | ||||||
| C10orf90_chr10_126419997_126675693 | 126565147 | A | ATATGTAA others(245): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0016 | 1 | 218 | 0.0046 | 252 | c.314 others(271): Show |
C10orf90 | ENSG00000154493.20 | transcript | ENST00000488181.3 | protein_coding | 2/9 | chr10 | TogoVar | ||||||
| C10orf90_chr10_126419997_126675693 | 126672434 | G | GCAGGACT others(245): Show |
upstream_gene_variant | MODIFIER | HG00597.hp2 HG01981.hp2 HG02280.hp1 others(1): Show |
a0001a0003a0004 | a0001c0001a0003c0002a0004c0005 | a0001c0001t0001a0001c0001t0002a0003c0002t0002others(1): Show | a0001c0001t0001g0193a0001c0001t0002g0033a0003c0002t0002g0174others(1): Show | 4 | 218 | 0.0184 | 252 | c.-19 others(263): Show |
C10orf90 | ENSG00000154493.20 | transcript | ENST00000488181.3 | protein_coding | 1742 | chr10 | TogoVar | ||||||
| CACNA1H_chr16_1148106_1226768 | 1185737 | C | CGGGGCGG others(245): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 |
a0002a0054 | a0002c0002a0054c0074 | a0002c0002t0001a0054c0074t0001 | a0002c0002t0001g0284a0054c0074t0001g0283 | 2 | 338 | 0.0059 | 252 | c.300 others(269): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CACNA2D2_chr3_50357613_50508634 | 50480935 | G | GAAGGGGG others(245): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049 | 1 | 234 | 0.0043 | 252 | c.207 others(269): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | TogoVar | ||||||
| CAPN15_chr16_522712_559636 | 544811 | C | CCGTCTCC others(245): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0300 | 1 | 410 | 0.0024 | 252 | c.-22 others(269): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CAPN15_chr16_522712_559636 | 544825 | C | CCTCCCCC others(245): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0164 | 1 | 410 | 0.0024 | 252 | c.-22 others(269): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CAPN3_chr15_42354501_42417317 | 42406135 | T | TGCCAAGC others(245): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 306 | 0.0033 | 252 | c.180 others(269): Show |
CAPN3 | ENSG00000092529.26 | transcript | ENST00000397163.8 | protein_coding | 15/23 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| CASQ2_chr1_115695021_115773714 | 115761439 | A | AAGAAGAA others(245): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0021 | 1 | 364 | 0.0028 | 252 | c.234 others(269): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
| CCDC73_chr11_32597721_32799662 | 32672027 | T | TAGGTCAG others(245): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0083 | 1 | 312 | 0.0032 | 252 | c.645 others(269): Show |
CCDC73 | ENSG00000186714.13 | transcript | ENST00000335185.10 | protein_coding | 9/17 | chr11 | TogoVar | ||||||
| CD3G_chr11_118339344_118360161 | 118355868 | T | TATATACA others(245): Show |
downstream_gene_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0001 | 1 | 442 | 0.0023 | 252 | c.*27 others(263): Show |
CD3G | ENSG00000160654.11 | transcript | ENST00000532917.3 | protein_coding | 708 | chr11 | TogoVar | ||||||
| CD3G_chr11_118339344_118360161 | 118355870 | T | TATACACA others(245): Show |
downstream_gene_variant | MODIFIER | HG01256.hp2 HG01258.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0038 | 2 | 442 | 0.0045 | 252 | c.*27 others(263): Show |
CD3G | ENSG00000160654.11 | transcript | ENST00000532917.3 | protein_coding | 710 | chr11 | TogoVar | ||||||
| CDH8_chr16_61642250_62041438 | 61960094 | T | TATGTATA others(245): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0040a0001c0001t0009g0061 | 2 | 168 | 0.0119 | 252 | c.253 others(271): Show |
CDH8 | ENSG00000150394.14 | transcript | ENST00000577390.6 | protein_coding | 2/11 | chr16 | TogoVar | ||||||
| CEACAM16_chr19_44694151_44715718 | 44709410 | C | CGGGAGCT others(245): Show |
intron_variant | MODIFIER | HG02451.hp2 NA19240.hp1 |
a0001 | a0001c0001a0001c0020 | a0001c0001t0001a0001c0020t0001 | a0001c0001t0001g0069a0001c0020t0001g0157 | 2 | 450 | 0.0044 | 252 | c.126 others(271): Show |
CEACAM16 | ENSG00000213892.12 | transcript | ENST00000587331.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CECR2_chr22_17364460_17563151 | 17432004 | T | TGACATTT others(245): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0264 | 1 | 324 | 0.0031 | 252 | c.127 others(271): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| CELSR1_chr22_46356174_46542620 | 46366247 | G | GGGGCAGG others(245): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0002 | a0002c0012 | a0002c0012t0003 | a0002c0012t0003g0012 | 1 | 104 | 0.0096 | 252 | c.830 others(269): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | TogoVar | ||||||
| CERS3_chr15_100395395_100533950 | 100511772 | T | TTTCCATT others(245): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03139.hp2 |
a0002 | a0002c0002 | a0002c0002t0033a0002c0002t0041 | a0002c0002t0033g0309a0002c0002t0041g0322 | 2 | 362 | 0.0055 | 252 | c.-2+ others(267): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 2/11 | chr15 | TogoVar | ||||||
| CFAP299_chr4_80330730_80968750 | 80800557 | T | TTATATAA others(245): Show |
intron_variant | MODIFIER | NA18957.hp2 NA18998.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052a0001c0001t0001g0053 | 2 | 96 | 0.0208 | 252 | c.334 others(271): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| CFAP46_chr10_132803392_132947570 | 132888362 | G | GTACCCCT others(245): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0229 | 1 | 246 | 0.0041 | 252 | c.330 others(271): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | ||||||
| CFAP46_chr10_132803392_132947570 | 132888362 | G | GTACCCCT others(245): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00438.hp1 others(43): Show |
a0002a0003a0004others(11): Show | a0002c0002a0002c0003a0002c0023others(17): Show | a0002c0002t0001a0002c0003t0001a0002c0023t0001others(18): Show | a0002c0002t0001g0126a0002c0002t0001g0141a0002c0002t0001g0160others(42): Show | 46 | 246 | 0.1870 | 252 | c.330 others(271): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | ||||||
| CFAP46_chr10_132803392_132947570 | 132888362 | G | GTACCCCT others(245): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0159 | 1 | 246 | 0.0041 | 252 | c.330 others(271): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | ||||||
| CFAP47_chrX_35914734_36390317 | 36270909 | G | GAAGCACG others(245): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0014 | a0014c0070 | a0014c0070t0001 | a0014c0070t0001g0138 | 1 | 216 | 0.0046 | 252 | c.744 others(271): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 49/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| CFAP61_chr20_20047532_20365698 | 20296330 | T | TCCTTCCT others(245): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02257.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0002c0004t0001 | a0001c0001t0002g0235a0002c0004t0001g0065 | 2 | 236 | 0.0085 | 252 | c.321 others(271): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CHMP1A_chr16_89639435_89662708 | 89647607 | G | GACCCAGT others(245): Show |
intron_variant | MODIFIER | HG02280.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0161a0001c0001t0007g0167 | 2 | 392 | 0.0051 | 252 | c.253 others(267): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | ||||||
| CHMP1A_chr16_89639435_89662708 | 89647833 | G | GGTGGAGA others(245): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02647.hp1 HG02735.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0350 | 6 | 392 | 0.0153 | 252 | c.253 others(267): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | ||||||
| CHMP1A_chr16_89639435_89662708 | 89647855 | T | TGGGGACC others(245): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 392 | 0.0026 | 252 | c.253 others(267): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | ||||||
| CHMP1A_chr16_89639435_89662708 | 89648141 | C | CGCCGACG others(245): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 392 | 0.0026 | 252 | c.253 others(267): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar |