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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RXRA_chr9_134321455_134445585 | 134394154 | G | GGTGATGG others(1019): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02145.hp1 HG02559.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0010others(1): Show | a0001c0001t0003g0142a0001c0001t0007g0108a0001c0001t0010g0122others(1): Show | 4 | 232 | 0.0172 | 1026 | c.29- others(1041): Show |
RXRA | ENSG00000186350.12 | transcript | ENST00000481739.2 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
RXRA_chr9_134321455_134445585 | 134394154 | G | GGTGATGG others(1019): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01257.hp1 HG01433.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0018a0001c0001t0055others(2): Show | a0001c0001t0003g0062a0001c0001t0018g0061a0001c0001t0018g0191others(3): Show | 6 | 232 | 0.0259 | 1026 | c.29- others(1041): Show |
RXRA | ENSG00000186350.12 | transcript | ENST00000481739.2 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SART1_chr11_65956734_65985137 | 65971457 | T | TGCTGAGG others(1019): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0127 | 1 | 384 | 0.0026 | 1026 | c.157 others(1045): Show |
SART1 | ENSG00000175467.15 | transcript | ENST00000312397.10 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31431930 | A | ATAGGGTG others(1019): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0336 | 1 | 376 | 0.0027 | 1026 | c.101 others(1045): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SLC39A11_chr17_72640949_73097688 | 73051754 | T | TGGCTGAG others(1019): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 180 | 0.0056 | 1026 | c.148 others(1045): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 3/9 | chr17 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 246325241 | C | CGGGGGGG others(1019): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0133 | 1 | 150 | 0.0067 | 1026 | c.531 others(1043): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 246325241 | C | CGGGGGGG others(1019): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0147 | 1 | 150 | 0.0067 | 1026 | c.531 others(1043): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 246325241 | C | CGGGGGGG others(1019): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0116 | 1 | 150 | 0.0067 | 1026 | c.531 others(1043): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
SNRNP35_chr12_123453139_123471936 | 123453160 | A | ATATATAT others(1019): Show |
upstream_gene_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 186 | 0.0054 | 1026 | c.-50 others(1037): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | ||||||
SYNE3_chr14_95402266_95521650 | 95419899 | G | GGTGGTGG others(1019): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00609.hp1 HG00621.hp2 others(16): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0019a0004c0003others(6): Show | a0001c0001t0001a0001c0019t0094a0001c0019t0100others(10): Show | a0001c0001t0001g0264a0001c0019t0094g0057a0001c0019t0100g0302others(16): Show | 19 | 384 | 0.0495 | 1026 | c.272 others(1045): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 17/17 | chr14 | TogoVar | ||||||
SYNE3_chr14_95402266_95521650 | 95419899 | G | GGTGGTGG others(1019): Show |
intron_variant | MODIFIER | NA18953.hp2 NA18969.hp1 |
a0004a0005 | a0004c0003a0005c0029 | a0004c0003t0001a0005c0029t0004 | a0004c0003t0001g0168a0005c0029t0004g0152 | 2 | 384 | 0.0052 | 1026 | c.272 others(1045): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 17/17 | chr14 | TogoVar | ||||||
SYNE3_chr14_95402266_95521650 | 95419899 | G | GGTGGTGG others(1019): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03516.hp2 |
a0001a0004 | a0001c0039a0004c0005 | a0001c0039t0007a0004c0005t0007 | a0001c0039t0007g0085a0004c0005t0007g0044 | 2 | 384 | 0.0052 | 1026 | c.272 others(1045): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 17/17 | chr14 | TogoVar | ||||||
SYNE3_chr14_95402266_95521650 | 95419899 | G | GGTGGTGG others(1019): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0038 | a0002c0038t0044 | a0002c0038t0044g0188 | 1 | 384 | 0.0026 | 1026 | c.272 others(1045): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 17/17 | chr14 | TogoVar | ||||||
SYNE3_chr14_95402266_95521650 | 95419899 | G | GGTGGTGG others(1019): Show |
intron_variant | MODIFIER | HG00099.hp1 HG03098.hp2 HG03710.hp1 |
a0001a0004 | a0001c0078a0004c0003 | a0001c0078t0132a0004c0003t0040 | a0001c0078t0132g0153a0004c0003t0040g0374a0004c0003t0040g0379 | 3 | 384 | 0.0078 | 1026 | c.272 others(1045): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 17/17 | chr14 | TogoVar | ||||||
SYNE3_chr14_95402266_95521650 | 95419899 | G | GGTGGTGG others(1019): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG01109.hp2 others(20): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0011a0001c0021others(9): Show | a0001c0001t0007a0001c0001t0054a0001c0001t0056others(15): Show | a0001c0001t0007g0277a0001c0001t0007g0372a0001c0001t0054g0369others(20): Show | 23 | 384 | 0.0599 | 1026 | c.272 others(1045): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 17/17 | chr14 | TogoVar | ||||||
SYNE3_chr14_95402266_95521650 | 95419899 | G | GGTGGTGG others(1019): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0011 | a0011c0023 | a0011c0023t0033 | a0011c0023t0033g0286 | 1 | 384 | 0.0026 | 1026 | c.272 others(1045): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 17/17 | chr14 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 46860251 | G | GATAGAGG others(1019): Show |
intron_variant | MODIFIER | HG02896.hp1 NA18962.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010 | a0001c0001t0003g0075a0001c0001t0010g0013 | 2 | 112 | 0.0179 | 1026 | c.638 others(1045): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TEX19_chr17_82354247_82368775 | 82360268 | T | TCAGTTTC others(1019): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0034 | 1 | 380 | 0.0026 | 1026 | c.-27 others(1043): Show |
TEX19 | ENSG00000182459.5 | transcript | ENST00000333437.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
THEG_chr19_356747_381026 | 377340 | C | CCCGTGCC others(1019): Show |
upstream_gene_variant | MODIFIER | NA18964.hp1 | a0008 | a0008c0008 | a0008c0008t0004 | a0008c0008t0004g0326 | 1 | 370 | 0.0027 | 1026 | c.-13 others(1037): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1315 | chr19 | TogoVar | ||||||
TM4SF1_chr3_149364022_149382649 | 149380314 | G | GCCCCGCC others(1019): Show |
upstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0046 | 1 | 434 | 0.0023 | 1026 | c.-27 others(1037): Show |
TM4SF1 | ENSG00000169908.12 | transcript | ENST00000305366.8 | protein_coding | 2666 | chr3 | TogoVar | ||||||
TMEM178B_chr7_141069064_141485380 | 141337038 | C | CCATCATC others(1019): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0040 | a0001c0002t0040g0050 | 1 | 80 | 0.0125 | 1026 | c.497 others(1047): Show |
TMEM178B | ENSG00000261115.7 | transcript | ENST00000565468.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
TMPRSS2_chr21_41459305_41513158 | 41475639 | A | AGTGAGGG others(1019): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0298 | 1 | 382 | 0.0026 | 1026 | c.727 others(1041): Show |
TMPRSS2 | ENSG00000184012.14 | transcript | ENST00000332149.10 | protein_coding | 8/13 | chr21 | TogoVar | ||||||
WDR7_chr18_56646359_57034792 | 57024494 | T | TGTTATGT others(1019): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 144 | 0.0069 | 1026 | c.427 others(1045): Show |
WDR7 | ENSG00000091157.15 | transcript | ENST00000254442.8 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
YBEY_chr21_46281342_46302751 | 46293518 | A | ACAAGTTA others(1019): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 404 | 0.0025 | 1026 | c.339 others(1043): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(1019): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 246 | 0.0041 | 1026 | c.-10 others(1043): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTATA others(1020): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 182 | 0.0055 | 1027 | c.505 others(1046): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1020): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0119 | 1 | 238 | 0.0042 | 1027 | c.787 others(1042): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | ||||||
ARHGEF10L_chr1_17534698_17702869 | 17689483 | C | CCCTCCCT others(1020): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00733.hp1 HG01070.hp1 others(15): Show |
a0002a0005a0008 | a0002c0003a0002c0004a0002c0008others(7): Show | a0002c0003t0002a0002c0004t0002a0002c0008t0002others(7): Show | a0002c0003t0002g0037a0002c0003t0002g0055a0002c0003t0002g0134others(15): Show | 18 | 168 | 0.1071 | 1027 | c.318 others(1046): Show |
ARHGEF10L | ENSG00000074964.17 | transcript | ENST00000361221.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ARHGEF10L_chr1_17534698_17702869 | 17689484 | C | CCCTCCCT others(1020): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0008 | a0008c0016 | a0008c0016t0002 | a0008c0016t0002g0082 | 1 | 168 | 0.0060 | 1027 | c.318 others(1046): Show |
ARHGEF10L | ENSG00000074964.17 | transcript | ENST00000361221.8 | protein_coding | 27/28 | chr1 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1020): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0283 | 1 | 318 | 0.0031 | 1027 | c.285 others(1046): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1020): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 318 | 0.0031 | 1027 | c.285 others(1046): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1020): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 318 | 0.0031 | 1027 | c.285 others(1046): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1020): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02074.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020a0001c0001t0001g0021 | 2 | 318 | 0.0063 | 1027 | c.285 others(1046): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1020): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 318 | 0.0031 | 1027 | c.285 others(1046): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1020): Show |
intron_variant | MODIFIER | HG02083.hp1 HG02602.hp2 HG03942.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046a0001c0001t0001g0056a0001c0001t0001g0057others(1): Show | 4 | 318 | 0.0126 | 1027 | c.285 others(1046): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1020): Show |
intron_variant | MODIFIER | HG04184.hp2 NA19077.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0061 | 2 | 318 | 0.0063 | 1027 | c.285 others(1046): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1020): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 318 | 0.0031 | 1027 | c.285 others(1046): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1020): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0131 | 1 | 318 | 0.0031 | 1027 | c.285 others(1046): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1020): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 318 | 0.0031 | 1027 | c.285 others(1046): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1020): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 318 | 0.0031 | 1027 | c.285 others(1046): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1020): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 318 | 0.0031 | 1027 | c.285 others(1046): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112804113 | T | TCCTCCTT others(1020): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0018 | 1 | 254 | 0.0039 | 1027 | c.163 others(1042): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
C10orf67_chr10_23197696_23349797 | 23331540 | A | AAGGGAAA others(1020): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 326 | 0.0031 | 1027 | c.327 others(1044): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAACG others(1020): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0248 | 1 | 326 | 0.0031 | 1027 | c.327 others(1044): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61353603 | A | ACTGCCTT others(1020): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0017 | 1 | 106 | 0.0094 | 1027 | c.169 others(1046): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DYSF_chr2_71448561_71691763 | 71618373 | A | ATGTGTGG others(1020): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0140 | 1 | 192 | 0.0052 | 1027 | c.441 others(1046): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 40/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DYSF_chr2_71461699_71691763 | 71618373 | A | ATGTGTGG others(1020): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0074 | 1 | 208 | 0.0048 | 1027 | c.446 others(1046): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EIF3B_chr7_2349827_2385745 | 2377913 | C | CATGGAGG others(1020): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0029 | 1 | 384 | 0.0026 | 1027 | c.215 others(1044): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | chr7 | TogoVar | ||||||
EIF3B_chr7_2349827_2385745 | 2377913 | C | CATGGAGG others(1020): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 384 | 0.0026 | 1027 | c.215 others(1044): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | chr7 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706453 | C | CATACATA others(1020): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0247 | 1 | 292 | 0.0034 | 1027 | c.228 others(1044): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar |