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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CSRNP3_chr2_165464698_165694407 | 165611379 | G | GTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(34): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(13): Show | a0001c0001t0002g0008a0001c0001t0002g0091a0001c0001t0002g0168others(34): Show | 37 | 246 | 0.1504 | 14 | c.148 others(33): Show |
CSRNP3 | ENSG00000178662.16 | transcript | ENST00000651982.1 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CSRNP3_chr2_165464698_165694407 | 165665775 | A | AAGAGAGA others(7): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0058 | 1 | 246 | 0.0041 | 14 | c.408 others(31): Show |
CSRNP3 | ENSG00000178662.16 | transcript | ENST00000651982.1 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CSRNP3_chr2_165464698_165694407 | 165674681 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02280.hp2 HG02886.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0001t0007a0001c0001t0013others(3): Show | a0001c0001t0002g0045a0001c0001t0007g0062a0001c0001t0013g0201others(3): Show | 6 | 246 | 0.0244 | 14 | c.409 others(31): Show |
CSRNP3 | ENSG00000178662.16 | transcript | ENST00000651982.1 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CSRNP3_chr2_165464698_165694407 | 165681726 | C | CATATATA others(7): Show |
3_prime_UTR_variant | MODIFIER | HG02280.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0087a0001c0001t0090 | a0001c0001t0087g0159a0001c0001t0090g0069 | 2 | 246 | 0.0081 | 14 | c.*19 others(25): Show |
CSRNP3 | ENSG00000178662.16 | transcript | ENST00000651982.1 | protein_coding | 7/7 | 2009 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
CSRNP3_chr2_165464698_165694407 | 165681760 | T | TATATATA others(7): Show |
3_prime_UTR_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0081 | a0001c0001t0081g0237 | 1 | 246 | 0.0041 | 14 | c.*20 others(25): Show |
CSRNP3 | ENSG00000178662.16 | transcript | ENST00000651982.1 | protein_coding | 7/7 | 2009 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
CSRP2_chr12_76853709_76884019 | 76869529 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00609.hp2 HG02015.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101a0001c0001t0001g0129a0001c0001t0001g0151others(6): Show | 9 | 388 | 0.0232 | 14 | c.-1- others(29): Show |
CSRP2 | ENSG00000175183.10 | transcript | ENST00000311083.10 | protein_coding | 1/5 | chr12 | TogoVar | ||||||
CSRP3_chr11_19177030_19206983 | 19197563 | C | CTTTCTTT others(7): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02615.hp1 HG03492.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0265a0001c0001t0001g0266a0001c0004t0001g0129 | 3 | 416 | 0.0072 | 14 | c.-29 others(31): Show |
CSRP3 | ENSG00000129170.10 | transcript | ENST00000265968.9 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
CST1_chr20_23742562_23755935 | 23747001 | T | TACACACA others(7): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG01071.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0008a0001c0002t0001 | a0001c0001t0001g0050a0001c0001t0008g0021a0001c0002t0001g0004others(1): Show | 8 | 472 | 0.0170 | 14 | c.*81 others(23): Show |
CST1 | ENSG00000170373.9 | transcript | ENST00000304749.7 | protein_coding | 560 | chr20 | TogoVar | ||||||
CST3_chr20_23628657_23642955 | 23637928 | A | AGCTAGAT others(7): Show |
5_prime_UTR_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0050 | 1 | 420 | 0.0024 | 14 | c.-67 others(21): Show |
CST3 | ENSG00000101439.9 | transcript | ENST00000376925.8 | protein_coding | 1/3 | 67 | chr20 | TogoVar | |||||
CST4_chr20_23680640_23694038 | 23685075 | T | TACACACA others(7): Show |
downstream_gene_variant | MODIFIER | HG01255.hp1 HG02055.hp1 HG02055.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0003a0003c0004t0003 | a0001c0001t0003g0002a0003c0004t0003g0011 | 6 | 452 | 0.0133 | 14 | c.*81 others(23): Show |
CST4 | ENSG00000101441.5 | transcript | ENST00000217423.4 | protein_coding | 564 | chr20 | TogoVar | ||||||
CST7_chr20_24944269_24964928 | 24957013 | G | GGGGAGCA others(7): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02145.hp2 HG02486.hp2 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0009 | a0001c0002t0004g0022a0001c0002t0004g0034a0001c0002t0004g0108others(3): Show | 10 | 350 | 0.0286 | 14 | c.71- others(27): Show |
CST7 | ENSG00000077984.6 | transcript | ENST00000480798.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CST9L_chr20_23559732_23573484 | 23561075 | C | CTTCTTTC others(7): Show |
downstream_gene_variant | MODIFIER | NA19055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 392 | 0.0026 | 14 | c.*38 others(25): Show |
CST9L | ENSG00000101435.5 | transcript | ENST00000376979.4 | protein_coding | 3656 | chr20 | TogoVar | ||||||
CSTB_chr21_43768950_43781308 | 43777600 | C | CTTTTCTT others(7): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 HG02055.hp2 HG03486.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0011a0001c0001t0001g0019a0001c0001t0002g0012 | 4 | 452 | 0.0089 | 14 | c.-13 others(25): Show |
CSTB | ENSG00000160213.10 | transcript | ENST00000291568.7 | protein_coding | 1293 | chr21 | TogoVar | ||||||
CSTF1_chr20_56387645_56411362 | 56404812 | A | ATTTTTTT others(7): Show |
3_prime_UTR_variant | MODIFIER | HG01261.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0083a0001c0001t0096 | a0001c0001t0083g0010a0001c0001t0096g0002 | 2 | 422 | 0.0047 | 14 | c.*10 others(25): Show |
CSTF1 | ENSG00000101138.12 | transcript | ENST00000217109.9 | protein_coding | 6/6 | 1112 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||
CSTF3_chr11_33079584_33166480 | 33166264 | A | ATGTAAGT others(7): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00597.hp1 HG00639.hp1 others(53): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0002g0023a0001c0001t0002g0034a0001c0001t0002g0036others(48): Show | 56 | 360 | 0.1556 | 14 | c.-49 others(25): Show |
CSTF3 | ENSG00000176102.13 | transcript | ENST00000323959.9 | protein_coding | 4785 | chr11 | TogoVar | ||||||
CSTPP1_chr11_46931761_47167247 | 46973780 | A | ATGTGTGT others(7): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0220 | 1 | 224 | 0.0045 | 14 | c.47- others(31): Show |
CSTPP1 | ENSG00000149179.14 | transcript | ENST00000278460.12 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CSTPP1_chr11_46931761_47167247 | 47036034 | G | GATATATA others(7): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02004.hp2 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0097a0001c0001t0003g0098a0001c0001t0003g0100 | 3 | 224 | 0.0134 | 14 | c.150 others(33): Show |
CSTPP1 | ENSG00000149179.14 | transcript | ENST00000278460.12 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CSTPP1_chr11_46931761_47167247 | 47065977 | T | TTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00621.hp2 HG00735.hp1 others(54): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0076a0001c0001t0001g0082a0001c0001t0001g0084others(54): Show | 57 | 224 | 0.2545 | 14 | c.280 others(33): Show |
CSTPP1 | ENSG00000149179.14 | transcript | ENST00000278460.12 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CSTPP1_chr11_46931761_47167247 | 47101164 | A | ATTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02622.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121a0001c0001t0001g0189 | 2 | 224 | 0.0089 | 14 | c.281 others(33): Show |
CSTPP1 | ENSG00000149179.14 | transcript | ENST00000278460.12 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CSTPP1_chr11_46931761_47167247 | 47122089 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 224 | 0.0045 | 14 | c.281 others(33): Show |
CSTPP1 | ENSG00000149179.14 | transcript | ENST00000278460.12 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CSTPP1_chr11_46931761_47167247 | 47122091 | A | AAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0093 | 1 | 224 | 0.0045 | 14 | c.281 others(33): Show |
CSTPP1 | ENSG00000149179.14 | transcript | ENST00000278460.12 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CSTPP1_chr11_46931761_47167247 | 47122091 | A | AAAAAAAA others(7): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 224 | 0.0045 | 14 | c.281 others(33): Show |
CSTPP1 | ENSG00000149179.14 | transcript | ENST00000278460.12 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CT45A1_chrX_135708639_135728228 | 135712996 | C | CCTTCCTT others(7): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 HG01943.hp1 HG02056.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0019a0002c0002t0002g0003a0002c0002t0002g0006others(6): Show | 11 | 57 | 0.1930 | 14 | c.-70 others(23): Show |
CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 642 | chrX | TogoVar | ||||||
CT45A1_chrX_135708639_135728228 | 135718352 | A | ATTTTTGG others(7): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0036 | 1 | 57 | 0.0175 | 14 | c.-6- others(27): Show |
CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CT45A9_chrX_135858418_135876812 | 135863284 | A | AACACACA others(7): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 13 | 0.0769 | 14 | c.*68 others(23): Show |
CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 133 | chrX | TogoVar | ||||||
CT45A9_chrX_135858418_135876812 | 135873034 | G | GAGAGAGA others(7): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 | a0003 | a0003c0002 | a0003c0002t0003 | a0003c0002t0003g0010 | 1 | 13 | 0.0769 | 14 | c.-14 others(25): Show |
CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 1223 | chrX | TogoVar | ||||||
CTAGE9_chr6_131703441_131716017 | 131714137 | G | GGTAGCAT others(7): Show |
upstream_gene_variant | MODIFIER | NA18972.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 1 | 408 | 0.0025 | 14 | c.-31 others(25): Show |
CTAGE9 | ENSG00000236761.6 | transcript | ENST00000314099.10 | protein_coding | 3121 | chr6 | TogoVar | ||||||
CTBP1_chr4_1206445_1254130 | 1220125 | C | CCAGGAAG others(7): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0354 | 1 | 422 | 0.0024 | 14 | c.515 others(31): Show |
CTBP1 | ENSG00000159692.18 | transcript | ENST00000382952.8 | protein_coding | 5/9 | chr4 | TogoVar | ||||||
CTBP2_chr10_124979317_125033071 | 124980121 | T | TTGCCTTG others(7): Show |
downstream_gene_variant | MODIFIER | HG02809.hp2 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0006 | 1 | 380 | 0.0026 | 14 | c.*93 others(25): Show |
CTBP2 | ENSG00000175029.17 | transcript | ENST00000309035.11 | protein_coding | 4195 | chr10 | TogoVar | ||||||
CTBP2_chr10_124979317_125033071 | 124986285 | G | GCACACAC others(7): Show |
3_prime_UTR_variant | MODIFIER | HG03209.hp2 | a0004 | a0004c0029 | a0004c0029t0097 | a0004c0029t0097g0260 | 1 | 380 | 0.0026 | 14 | c.*32 others(25): Show |
CTBP2 | ENSG00000175029.17 | transcript | ENST00000309035.11 | protein_coding | 9/9 | 3232 | chr10 | TogoVar | |||||
CTCF_chr16_67557526_67644177 | 67580772 | A | ATTTTTTT others(7): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0168 | 1 | 168 | 0.0060 | 14 | c.-10 others(31): Show |
CTCF | ENSG00000102974.16 | transcript | ENST00000264010.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CTCF_chr16_67557526_67644177 | 67629746 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 168 | 0.0060 | 14 | c.183 others(31): Show |
CTCF | ENSG00000102974.16 | transcript | ENST00000264010.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CTDSP2_chr12_57814927_57851729 | 57818182 | C | CTTTTTTT others(7): Show |
downstream_gene_variant | MODIFIER | NA18954.hp1 NA19083.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0004 | 2 | 346 | 0.0058 | 14 | c.*54 others(25): Show |
CTDSP2 | ENSG00000175215.11 | transcript | ENST00000398073.7 | protein_coding | 1744 | chr12 | TogoVar | ||||||
CTDSPL2_chr15_44422629_44534038 | 44444302 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0063 | 1 | 234 | 0.0043 | 14 | c.-24 others(33): Show |
CTDSPL2 | ENSG00000137770.14 | transcript | ENST00000260327.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CTDSPL2_chr15_44422629_44534038 | 44444836 | G | GTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02602.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011 | a0001c0001t0003g0004a0001c0001t0011g0054 | 2 | 234 | 0.0086 | 14 | c.-24 others(33): Show |
CTDSPL2 | ENSG00000137770.14 | transcript | ENST00000260327.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CTDSPL2_chr15_44422629_44534038 | 44462700 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02886.hp1 HG03471.hp2 others(4): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0005a0001c0003t0008a0001c0003t0010 | a0001c0002t0005g0044a0001c0003t0008g0058a0001c0003t0008g0061others(4): Show | 7 | 234 | 0.0299 | 14 | c.186 others(31): Show |
CTDSPL2 | ENSG00000137770.14 | transcript | ENST00000260327.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CTDSPL2_chr15_44422629_44534038 | 44506412 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0019 | 1 | 234 | 0.0043 | 14 | c.969 others(31): Show |
CTDSPL2 | ENSG00000137770.14 | transcript | ENST00000260327.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CTHRC1_chr8_103366538_103387989 | 103387256 | C | CAAAAAAA others(7): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 HG01361.hp2 HG03831.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0013a0001c0002t0001g0025a0001c0002t0001g0043 | 3 | 408 | 0.0074 | 14 | c.*46 others(25): Show |
CTHRC1 | ENSG00000164932.13 | transcript | ENST00000330295.10 | protein_coding | 4268 | chr8 | TogoVar | ||||||
CTIF_chr18_48534031_48868217 | 48563212 | T | TGACACCC others(7): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(66): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0032a0001c0001t0001g0074a0001c0001t0001g0075others(66): Show | 69 | 144 | 0.4792 | 14 | c.-29 others(33): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CTIF_chr18_48534031_48868217 | 48568633 | T | TAAAAAAA others(7): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0112 | 1 | 144 | 0.0069 | 14 | c.-29 others(33): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CTIF_chr18_48534031_48868217 | 48645278 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02132.hp2 HG02135.hp1 HG03486.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0015a0001c0001t0025a0001c0001t0027others(5): Show | a0001c0001t0015g0083a0001c0001t0025g0011a0001c0001t0027g0034others(5): Show | 8 | 144 | 0.0556 | 14 | c.252 others(31): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CTIF_chr18_48534031_48868217 | 48669790 | C | CATATATA others(7): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0107 | 1 | 144 | 0.0069 | 14 | c.432 others(29): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CTIF_chr18_48534031_48868217 | 48687305 | G | GACACACA others(7): Show |
intron_variant | MODIFIER | HG02735.hp2 HG03098.hp2 NA19043.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0014a0001c0002t0042 | a0001c0001t0004g0026a0001c0001t0014g0022a0001c0002t0042g0050 | 3 | 144 | 0.0208 | 14 | c.507 others(33): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CTNNA1_chr5_138748425_138940034 | 138823956 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0058 | 1 | 180 | 0.0056 | 14 | c.589 others(29): Show |
CTNNA1 | ENSG00000044115.21 | transcript | ENST00000302763.12 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CTNNA1_chr5_138748425_138940034 | 138825482 | G | GTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01070.hp1 HG01074.hp2 others(13): Show |
a0001 | a0001c0001a0001c0005a0001c0008 | a0001c0001t0001a0001c0005t0001a0001c0008t0003 | a0001c0001t0001g0011a0001c0001t0001g0101a0001c0001t0001g0102others(13): Show | 16 | 180 | 0.0889 | 14 | c.858 others(29): Show |
CTNNA1 | ENSG00000044115.21 | transcript | ENST00000302763.12 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CTNNA1_chr5_138748425_138940034 | 138905111 | A | AAAATACA others(7): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0012 | a0001c0012t0003 | a0001c0012t0003g0019 | 1 | 180 | 0.0056 | 14 | c.138 others(31): Show |
CTNNA1 | ENSG00000044115.21 | transcript | ENST00000302763.12 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CTNNA1_chr5_138748425_138940034 | 138916177 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02559.hp2 HG03139.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0008 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(6): Show | 9 | 180 | 0.0500 | 14 | c.139 others(33): Show |
CTNNA1 | ENSG00000044115.21 | transcript | ENST00000302763.12 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CTNNA2_chr2_79508051_80653780 | 79536574 | A | AGTATGTG others(7): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0068 | 1 | 68 | 0.0147 | 14 | c.-6+ others(31): Show |
CTNNA2 | ENSG00000066032.19 | transcript | ENST00000402739.9 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CTNNA2_chr2_79508051_80653780 | 79563161 | G | GTATATAT others(7): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0049 | 1 | 68 | 0.0147 | 14 | c.-6+ others(31): Show |
CTNNA2 | ENSG00000066032.19 | transcript | ENST00000402739.9 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CTNNA2_chr2_79508051_80653780 | 79616909 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02630.hp2 HG03688.hp1 |
a0001 | a0001c0003a0001c0005a0001c0014 | a0001c0003t0002a0001c0005t0002a0001c0014t0001 | a0001c0003t0002g0008a0001c0005t0002g0009a0001c0014t0001g0016 | 3 | 68 | 0.0441 | 14 | c.-5- others(31): Show |
CTNNA2 | ENSG00000066032.19 | transcript | ENST00000402739.9 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |