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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FOXJ1_chr17_76131333_76146245 | 76140572 | G | C | splice_region_variant others(1): Show |
LOW | NA19075.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0025 | 1 | 380 | 0.0026 | 0 | c.-16 others(6): Show |
FOXJ1 | ENSG00000129654.8 | transcript | ENST00000322957.7 | protein_coding | 1/2 | chr17 | TogoVar | ||||||
FOXJ2_chr12_8027716_8060517 | 8044957 | C | T | splice_region_variant others(1): Show |
LOW | HG02886.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0086 | 1 | 374 | 0.0027 | 0 | c.816 others(3): Show |
p.His others(6): Show |
FOXJ2 | ENSG00000065970.9 | transcript | ENST00000162391.8 | protein_coding | 6/11 | 1948/5524 | 816/1725 | 272/574 | chr12 | TogoVar | ||
FOXJ2_chr12_8027716_8060517 | 8044963 | G | T | splice_region_variant others(1): Show |
LOW | NA18966.hp1 NA18995.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0037a0001c0001t0004g0037 | 2 | 374 | 0.0054 | 0 | c.817 others(5): Show |
FOXJ2 | ENSG00000065970.9 | transcript | ENST00000162391.8 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
FOXK1_chr7_4677295_4776442 | 4740819 | GCTC | G | splice_region_variant others(1): Show |
LOW | HG02257.hp1 HG03225.hp2 HG03471.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0015a0001c0003t0113a0001c0003t0136 | a0001c0003t0015g0066a0001c0003t0015g0094a0001c0003t0113g0276others(1): Show | 4 | 294 | 0.0136 | -3 | c.561 others(15): Show |
FOXK1 | ENSG00000164916.11 | transcript | ENST00000328914.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
FOXK1_chr7_4677295_4776442 | 4761060 | G | A | splice_region_variant others(1): Show |
LOW | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 294 | 0.0034 | 0 | c.169 others(6): Show |
FOXK1 | ENSG00000164916.11 | transcript | ENST00000328914.5 | protein_coding | 7/8 | chr7 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82582938 | A | G | splice_region_variant others(1): Show |
LOW | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0177 | 1 | 308 | 0.0033 | 0 | c.110 others(6): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 5/8 | chr17 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586193 | A | AGTCAAAG others(3648): Show |
splice_region_variant others(1): Show |
LOW | NA19085.hp2 | a0022 | a0022c0029 | a0022c0029t0002 | a0022c0029t0002g0100 | 1 | 308 | 0.0033 | 3655 | c.157 others(3668): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
FOXK2_chr17_82514732_82609602 | 82586193 | A | AGTCAAAG others(2086): Show |
splice_region_variant others(1): Show |
LOW | HG00558.hp1 | a0009 | a0009c0011 | a0009c0011t0004 | a0009c0011t0004g0054 | 1 | 308 | 0.0033 | 2093 | c.157 others(2106): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
FOXK2_chr17_82514732_82609602 | 82586193 | A | AGTCAAAG others(3076): Show |
splice_region_variant others(1): Show |
LOW | HG01261.hp1 | a0014 | a0014c0012 | a0014c0012t0009 | a0014c0012t0009g0234 | 1 | 308 | 0.0033 | 3083 | c.157 others(3096): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
FOXK2_chr17_82514732_82609602 | 82586193 | A | AGTCAAAG others(741): Show |
splice_region_variant others(1): Show |
LOW | NA19030.hp2 | a0013 | a0013c0013 | a0013c0013t0018 | a0013c0013t0018g0292 | 1 | 308 | 0.0033 | 748 | c.157 others(761): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
FOXK2_chr17_82514732_82609602 | 82586196 | C | CAAAGGTG others(481): Show |
splice_region_variant others(1): Show |
LOW | HG00609.hp1 | a0011 | a0011c0023 | a0011c0023t0016 | a0011c0023t0016g0289 | 1 | 308 | 0.0033 | 488 | c.157 others(501): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
FOXK2_chr17_82514732_82609602 | 82586196 | C | CAAAGGTG others(3306): Show |
splice_region_variant others(1): Show |
LOW | HG00597.hp2 | a0008 | a0008c0024 | a0008c0024t0002 | a0008c0024t0002g0056 | 1 | 308 | 0.0033 | 3313 | c.157 others(3326): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
FOXK2_chr17_82514732_82609602 | 82586196 | C | CAAAGGTG others(1012): Show |
splice_region_variant others(1): Show |
LOW | HG02572.hp2 | a0012 | a0012c0014 | a0012c0014t0005 | a0012c0014t0005g0235 | 1 | 308 | 0.0033 | 1019 | c.157 others(1032): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
FOXK2_chr17_82514732_82609602 | 82586203 | A | AGGCAGTG others(5978): Show |
splice_region_variant others(1): Show |
LOW | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0171 | 1 | 308 | 0.0033 | 5985 | c.157 others(5998): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
FOXK2_chr17_82514732_82609602 | 82586203 | A | G | splice_region_variant others(1): Show |
LOW | HG00597.hp2 HG01167.hp2 HG01169.hp1 others(22): Show |
a0001a0002a0008others(4): Show | a0001c0001a0001c0003a0002c0030others(5): Show | a0001c0001t0004a0001c0001t0009a0001c0001t0012others(14): Show | a0001c0001t0004g0152a0001c0001t0009g0176a0001c0001t0009g0179others(22): Show | 25 | 308 | 0.0812 | 0 | c.157 others(6): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586205 | G | GC | splice_region_variant others(1): Show |
LOW | HG02056.hp1 HG03239.hp2 HG03710.hp1 others(5): Show |
a0001a0002 | a0001c0003a0002c0030 | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(4): Show | a0001c0003t0001g0032a0001c0003t0002g0256a0001c0003t0003g0141others(5): Show | 8 | 308 | 0.0260 | 1 | c.157 others(7): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
FOXK2_chr17_82514732_82609602 | 82586205 | G | GCCGGGGG others(187): Show |
splice_region_variant others(1): Show |
LOW | HG03225.hp1 | a0001 | a0001c0003 | a0001c0003t0016 | a0001c0003t0016g0250 | 1 | 308 | 0.0033 | 194 | c.157 others(207): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
FOXK2_chr17_82514732_82609602 | 82586205 | G | GCCGGGGG others(3939): Show |
splice_region_variant others(1): Show |
LOW | HG02523.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0290 | 1 | 308 | 0.0033 | 3946 | c.157 others(3959): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
FOXK2_chr17_82514732_82609602 | 82587280 | A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(291): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0003a0001c0007others(27): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(91): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0017others(291): Show | 294 | 308 | 0.9546 | 0 | c.178 others(6): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 8/8 | chr17 | TogoVar | ||||||
FOXL1_chr16_86573549_86588478 | 86583477 | A | G | splice_region_variant | LOW | HG02135.hp2 | a0001 | a0001c0003 | a0001c0003t0045 | a0001c0003t0045g0000 | 1 | 462 | 0.0022 | 0 | c.*37 others(5): Show |
FOXL1 | ENSG00000176678.6 | transcript | ENST00000320241.5 | protein_coding | 1/1 | chr16 | TogoVar | ||||||
FOXL3_chr7_285170_296488 | 290284 | C | A | splice_region_variant others(1): Show |
LOW | HG02559.hp1 | a0007 | a0007c0007 | a0007c0007t0000 | a0007c0007t0000g0010 | 1 | 404 | 0.0025 | 0 | c.107 others(5): Show |
FOXL3 | ENSG00000248767.2 | transcript | ENST00000506382.2 | protein_coding | 1/2 | chr7 | TogoVar | ||||||
FOXL3_chr7_285170_296488 | 290653 | C | T | splice_region_variant others(1): Show |
LOW | HG04115.hp2 | a0001 | a0001c0014 | a0001c0014t0000 | a0001c0014t0000g0001 | 1 | 404 | 0.0025 | 0 | c.108 others(3): Show |
p.Ser others(5): Show |
FOXL3 | ENSG00000248767.2 | transcript | ENST00000506382.2 | protein_coding | 2/3 | 108/702 | 108/702 | 36/233 | chr7 | TogoVar | ||
FOXM1_chr12_2852680_2882174 | 2864500 | G | A | splice_region_variant others(1): Show |
LOW | HG01891.hp1 HG02615.hp1 HG02615.hp2 others(4): Show |
a0001a0003a0015 | a0001c0001a0003c0007a0015c0022 | a0001c0001t0001a0003c0007t0001a0015c0022t0001 | a0001c0001t0001g0025a0001c0001t0001g0072a0001c0001t0001g0073others(3): Show | 7 | 438 | 0.0160 | 0 | c.109 others(6): Show |
FOXM1 | ENSG00000111206.13 | transcript | ENST00000359843.8 | protein_coding | 7/8 | chr12 | TogoVar | ||||||
FOXN1_chr17_28501348_28543900 | 28534333 | A | G | splice_region_variant others(1): Show |
LOW | HG03453.hp2 | a0002 | a0002c0014 | a0002c0014t0012 | a0002c0014t0012g0192 | 1 | 356 | 0.0028 | 0 | c.930 others(3): Show |
p.Thr others(6): Show |
FOXN1 | ENSG00000109101.8 | transcript | ENST00000579795.6 | protein_coding | 7/9 | 1040/3521 | 930/1947 | 310/648 | chr17 | TogoVar | ||
FOXN1_chr17_28501348_28543900 | 28534546 | C | T | splice_region_variant others(1): Show |
LOW | HG00423.hp1 HG00438.hp1 HG00621.hp2 others(68): Show |
a0001a0002a0003others(4): Show | a0001c0007a0002c0002a0002c0006others(7): Show | a0001c0007t0025a0002c0002t0001a0002c0002t0003others(19): Show | a0001c0007t0025g0227a0002c0002t0001g0081a0002c0002t0003g0052others(60): Show | 71 | 356 | 0.1994 | 0 | c.113 others(6): Show |
FOXN1 | ENSG00000109101.8 | transcript | ENST00000579795.6 | protein_coding | 7/8 | chr17 | TogoVar | ||||||
FOXN2_chr2_48309682_48384295 | 48346756 | G | C | splice_region_variant others(1): Show |
LOW | HG00639.hp1 HG01123.hp2 HG01346.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0050a0001c0001t0001g0107a0001c0001t0001g0142others(7): Show | 10 | 344 | 0.0291 | 0 | c.537 others(5): Show |
FOXN2 | ENSG00000170802.17 | transcript | ENST00000340553.8 | protein_coding | 3/6 | chr2 | TogoVar | ||||||
FOXN3_chr14_89151177_89422233 | 89281020 | A | G | splice_region_variant others(1): Show |
LOW | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0016 | 1 | 230 | 0.0044 | 0 | c.681 others(5): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 3/5 | chr14 | TogoVar | ||||||
FOXN4_chr12_109272978_109314284 | 109309114 | G | C | splice_region_variant others(1): Show |
LOW | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275 | 1 | 368 | 0.0027 | 0 | c.-4+ others(4): Show |
FOXN4 | ENSG00000139445.18 | transcript | ENST00000299162.10 | protein_coding | 1/9 | chr12 | TogoVar | ||||||
FOXO3B_chr17_18662629_18687314 | 18680829 | A | G | missense_variant others(1): Show |
MODERATE | HG00099.hp2 HG00639.hp1 HG01069.hp1 others(62): Show |
a0004a0005a0006others(2): Show | a0004c0004a0005c0005a0006c0006others(2): Show | a0004c0004t0004a0004c0004t0005a0004c0004t0037others(13): Show | a0004c0004t0004g0105a0004c0004t0004g0106a0004c0004t0005g0006others(28): Show | 65 | 456 | 0.1425 | 0 | c.38T others(2): Show |
p.Val others(5): Show |
FOXO3B | ENSG00000240445.6 | transcript | ENST00000395675.7 | protein_coding | 3/4 | 344/5859 | 38/873 | 13/290 | chr17 | TogoVar | ||
FOXP2_chr7_114409815_114698765 | 114663436 | A | AT | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(26): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0004a0001c0001t0010a0001c0001t0017others(3): Show | a0001c0001t0004g0005a0001c0001t0004g0008a0001c0001t0004g0014others(26): Show | 29 | 174 | 0.1667 | 1 | c.177 others(7): Show |
FOXP2 | ENSG00000128573.28 | transcript | ENST00000350908.9 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
FOXP3_chrX_49245438_49269710 | 49256855 | G | A | splice_region_variant others(1): Show |
LOW | HG03239.hp1 NA20752.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0126a0001c0004t0001g0128 | 2 | 299 | 0.0067 | 0 | c.543 others(3): Show |
p.Ser others(6): Show |
FOXP3 | ENSG00000049768.18 | transcript | ENST00000376207.10 | protein_coding | 6/12 | 615/2264 | 543/1296 | 181/431 | chrX | TogoVar | ||
FOXP3_chrX_49245438_49269710 | 49264661 | CT | C | splice_region_variant | LOW | NA19063.hp1 | a0008 | a0008c0007 | a0008c0007t0008 | a0008c0007t0008g0153 | 1 | 299 | 0.0033 | -1 | c.-24 others(4): Show |
FOXP3 | ENSG00000049768.18 | transcript | ENST00000376207.10 | protein_coding | 1/12 | chrX | TogoVar | ||||||
FOXP4_chr6_41541381_41607384 | 41585425 | C | A | splice_region_variant others(1): Show |
LOW | HG01496.hp2 | a0006 | a0006c0015 | a0006c0015t0001 | a0006c0015t0001g0206 | 1 | 356 | 0.0028 | 0 | c.424 others(5): Show |
FOXP4 | ENSG00000137166.18 | transcript | ENST00000307972.10 | protein_coding | 4/16 | chr6 | TogoVar | ||||||
FOXP4_chr6_41541381_41607384 | 41591214 | C | T | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(20): Show |
a0001 | a0001c0002a0001c0004a0001c0008 | a0001c0002t0003a0001c0002t0004a0001c0002t0009others(6): Show | a0001c0002t0003g0151a0001c0002t0004g0108a0001c0002t0009g0007others(15): Show | 23 | 356 | 0.0646 | 0 | c.143 others(6): Show |
FOXP4 | ENSG00000137166.18 | transcript | ENST00000307972.10 | protein_coding | 12/16 | chr6 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126275803 | CTTCATCT others(75): Show |
C | frameshift_variant others(3): Show |
HIGH | NA19082.hp1 | a0005 | a0005c0006 | a0005c0006t0002 | a0005c0006t0002g0098 | 1 | 390 | 0.0026 | -82 | c.744 others(92): Show |
p.Ser others(5): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 7/11 | 797/1951 | 744/1461 | 248/486 | chr11 | TogoVar | ||
FOXRED2_chr22_36482190_36512040 | 36504508 | G | C | splice_region_variant others(1): Show |
LOW | NA19030.hp1 | a0005 | a0005c0007 | a0005c0007t0031 | a0005c0007t0031g0087 | 1 | 320 | 0.0031 | 0 | c.779 others(5): Show |
FOXRED2 | ENSG00000100350.16 | transcript | ENST00000397224.9 | protein_coding | 3/8 | chr22 | TogoVar | ||||||
FOXRED2_chr22_36482190_36512040 | 36504765 | C | T | missense_variant others(1): Show |
MODERATE | HG01978.hp1 HG01981.hp2 HG02004.hp2 |
a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0012 | 3 | 320 | 0.0094 | 0 | c.529 others(3): Show |
p.Val others(6): Show |
FOXRED2 | ENSG00000100350.16 | transcript | ENST00000397224.9 | protein_coding | 3/9 | 562/4906 | 529/2055 | 177/684 | chr22 | TogoVar | ||
FPGS_chr9_127797882_127819081 | 127808888 | C | T | splice_region_variant others(1): Show |
LOW | HG04184.hp2 | a0001 | a0001c0011 | a0001c0011t0002 | a0001c0011t0002g0117 | 1 | 406 | 0.0025 | 0 | c.105 others(4): Show |
p.Leu others(6): Show |
FPGS | ENSG00000136877.15 | transcript | ENST00000373247.7 | protein_coding | 11/15 | 1102/2284 | 1059/1764 | 353/587 | chr9 | TogoVar | ||
FPGS_chr9_127797882_127819081 | 127809839 | G | A | splice_region_variant others(1): Show |
LOW | HG02647.hp1 HG02818.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027a0001c0001t0002g0086 | 3 | 406 | 0.0074 | 0 | c.121 others(6): Show |
FPGS | ENSG00000136877.15 | transcript | ENST00000373247.7 | protein_coding | 12/14 | chr9 | TogoVar | ||||||
FPGS_chr9_127797882_127819081 | 127810026 | C | G | splice_region_variant others(1): Show |
LOW | NA18966.hp2 NA18993.hp2 NA19012.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0111a0001c0001t0002g0121a0001c0001t0002g0122 | 3 | 406 | 0.0074 | 0 | c.121 others(6): Show |
FPGS | ENSG00000136877.15 | transcript | ENST00000373247.7 | protein_coding | 12/14 | chr9 | TogoVar | ||||||
FPGT_chr1_74193242_74213702 | 74198366 | A | G | splice_region_variant others(1): Show |
LOW | HG02647.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0054 | 1 | 380 | 0.0026 | 0 | c.82+ others(4): Show |
FPGT | ENSG00000254685.8 | transcript | ENST00000370898.9 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
FPR3_chr19_51790157_51831190 | 51795329 | G | A | splice_region_variant | LOW | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0048 | 1 | 416 | 0.0024 | 0 | c.-13 others(3): Show |
FPR3 | ENSG00000187474.5 | transcript | ENST00000339223.5 | protein_coding | 1/2 | chr19 | TogoVar | ||||||
FRA10AC1_chr10_93662883_93707592 | 93684052 | T | G | splice_region_variant others(1): Show |
LOW | HG01884.hp2 HG02559.hp2 HG03471.hp2 |
a0003 | a0003c0003 | a0003c0003t0012 | a0003c0003t0012g0031a0003c0003t0012g0077 | 3 | 364 | 0.0082 | 0 | c.668 others(5): Show |
FRA10AC1 | ENSG00000148690.12 | transcript | ENST00000359204.5 | protein_coding | 10/13 | chr10 | TogoVar | ||||||
FRA10AC1_chr10_93662883_93707592 | 93692733 | G | T | splice_region_variant others(1): Show |
LOW | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0114 | 1 | 364 | 0.0028 | 0 | c.297 others(5): Show |
FRA10AC1 | ENSG00000148690.12 | transcript | ENST00000359204.5 | protein_coding | 5/13 | chr10 | TogoVar | ||||||
FRAS1_chr4_78052323_78549269 | 78245324 | A | T | missense_variant others(1): Show |
MODERATE | HG00438.hp2 HG00673.hp1 HG01109.hp1 others(7): Show |
a0010a0015a0055others(4): Show | a0010c0070a0010c0071a0010c0073others(6): Show | a0010c0070t0001a0010c0071t0001a0010c0073t0001others(6): Show | a0010c0070t0001g0084a0010c0071t0001g0003a0010c0073t0001g0091others(7): Show | 10 | 178 | 0.0562 | 0 | c.308 others(3): Show |
p.Glu others(6): Show |
FRAS1 | ENSG00000138759.20 | transcript | ENST00000512123.4 | protein_coding | 4/74 | 995/15871 | 308/12039 | 103/4012 | chr4 | TogoVar | ||
FRAS1_chr4_78052323_78549269 | 78255238 | C | G | splice_region_variant others(1): Show |
LOW | HG01891.hp2 HG02145.hp2 HG02630.hp2 others(2): Show |
a0051a0052a0091others(2): Show | a0051c0062a0052c0063a0091c0120others(2): Show | a0051c0062t0015a0052c0063t0006a0091c0120t0039others(2): Show | a0051c0062t0015g0045a0052c0063t0006g0067a0091c0120t0039g0096others(2): Show | 5 | 178 | 0.0281 | 0 | c.470 others(5): Show |
FRAS1 | ENSG00000138759.20 | transcript | ENST00000512123.4 | protein_coding | 5/73 | chr4 | TogoVar | ||||||
FRAS1_chr4_78052323_78549269 | 78265017 | G | A | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(151): Show |
a0001a0002a0003others(83): Show | a0001c0001a0001c0013a0002c0003others(102): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(125): Show | a0001c0001t0001g0086a0001c0001t0002g0072a0001c0001t0002g0075others(151): Show | 154 | 178 | 0.8652 | 0 | c.604 others(5): Show |
FRAS1 | ENSG00000138759.20 | transcript | ENST00000512123.4 | protein_coding | 6/73 | chr4 | TogoVar | ||||||
FRAS1_chr4_78052323_78549269 | 78267430 | C | T | missense_variant others(1): Show |
MODERATE | HG00597.hp2 HG02293.hp2 HG03710.hp2 |
a0048a0049a0088 | a0048c0060a0049c0061a0088c0116 | a0048c0060t0006a0049c0061t0002a0088c0116t0009 | a0048c0060t0006g0039a0049c0061t0002g0025a0088c0116t0009g0118 | 3 | 178 | 0.0169 | 0 | c.979 others(3): Show |
p.Arg others(6): Show |
FRAS1 | ENSG00000138759.20 | transcript | ENST00000512123.4 | protein_coding | 9/74 | 1666/15871 | 979/12039 | 327/4012 | chr4 | TogoVar | ||
FRAS1_chr4_78052323_78549269 | 78407839 | G | A | missense_variant others(1): Show |
MODERATE | HG02258.hp1 | a0074 | a0074c0100 | a0074c0100t0012 | a0074c0100t0012g0160 | 1 | 178 | 0.0056 | 0 | c.430 others(4): Show |
p.Glu others(7): Show |
FRAS1 | ENSG00000138759.20 | transcript | ENST00000512123.4 | protein_coding | 31/74 | 4993/15871 | 4306/12039 | 1436/4012 | chr4 | TogoVar | ||
FRAS1_chr4_78052323_78549269 | 78446888 | A | G | splice_region_variant others(1): Show |
LOW | HG02055.hp1 HG02451.hp1 HG02486.hp1 others(11): Show |
a0008a0043a0045others(8): Show | a0008c0006a0043c0056a0045c0059others(8): Show | a0008c0006t0004a0008c0006t0042a0043c0056t0045others(9): Show | a0008c0006t0004g0171a0008c0006t0004g0172a0008c0006t0004g0174others(11): Show | 14 | 178 | 0.0787 | 0 | c.601 others(6): Show |
FRAS1 | ENSG00000138759.20 | transcript | ENST00000512123.4 | protein_coding | 43/73 | chr4 | TogoVar |