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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FGF12_chr3_192134390_192732541 | 192170663 | GA | G | splice_region_variant others(1): Show |
LOW | HG00597.hp2 HG01074.hp1 HG01109.hp1 others(52): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0019a0001c0001t0001g0030a0001c0001t0001g0034others(52): Show | 55 | 90 | 0.6111 | -1 | c.229 others(6): Show |
FGF12 | ENSG00000114279.15 | transcript | ENST00000445105.7 | protein_coding | 4/5 | chr3 | TogoVar | ||||||
FGF12_chr3_192134390_192732541 | 192170663 | GAA | G | splice_region_variant others(1): Show |
LOW | HG00597.hp1 HG01169.hp2 HG01261.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0003a0001c0001t0003g0059a0001c0001t0003g0063others(11): Show | 14 | 90 | 0.1556 | -2 | c.229 others(13): Show |
FGF12 | ENSG00000114279.15 | transcript | ENST00000445105.7 | protein_coding | 4/5 | chr3 | TogoVar | ||||||
FGF20_chr8_16987181_17007345 | 16995655 | T | C | splice_region_variant others(1): Show |
LOW | NA18975.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0072 | 1 | 456 | 0.0022 | 0 | c.390 others(3): Show |
p.Ser others(6): Show |
FGF20 | ENSG00000078579.9 | transcript | ENST00000180166.6 | protein_coding | 2/3 | 703/1840 | 390/636 | 130/211 | chr8 | TogoVar | ||
FGF2_chr4_122821831_122903236 | 122876313 | C | T | splice_region_variant others(1): Show |
LOW | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0101 | 1 | 256 | 0.0039 | 0 | c.179 others(5): Show |
FGF2 | ENSG00000138685.18 | transcript | ENST00000644866.2 | protein_coding | 1/2 | chr4 | TogoVar | ||||||
FGF3_chr11_69804968_69824416 | 69810705 | G | A | splice_region_variant others(1): Show |
LOW | HG01361.hp2 HG01496.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0039 | 2 | 422 | 0.0047 | 0 | c.325 others(5): Show |
FGF3 | ENSG00000186895.4 | transcript | ENST00000334134.4 | protein_coding | 2/2 | chr11 | TogoVar | ||||||
FGF4_chr11_69766022_69780341 | 69774016 | G | A | splice_region_variant others(1): Show |
LOW | HG02717.hp2 HG03516.hp1 |
a0001 | a0001c0004a0001c0005 | a0001c0004t0004a0001c0005t0004 | a0001c0004t0004g0034a0001c0005t0004g0035 | 2 | 434 | 0.0046 | 0 | c.444 others(5): Show |
FGF4 | ENSG00000075388.4 | transcript | ENST00000168712.3 | protein_coding | 2/2 | chr11 | TogoVar | ||||||
FGF8_chr10_101765109_101781114 | 101775736 | T | C | splice_region_variant others(1): Show |
LOW | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 360 | 0.0028 | 0 | c.69+ others(4): Show |
FGF8 | ENSG00000107831.14 | transcript | ENST00000320185.7 | protein_coding | 2/5 | chr10 | TogoVar | ||||||
FGFBP2_chr4_15955245_15968175 | 15960613 | TA | T | splice_region_variant others(1): Show |
LOW | HG01099.hp1 HG01167.hp1 HG02257.hp1 others(14): Show |
a0001a0003a0004others(1): Show | a0001c0002a0001c0006a0003c0003others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0006t0001others(3): Show | a0001c0002t0001g0024a0001c0002t0002g0015a0001c0002t0002g0025others(6): Show | 17 | 458 | 0.0371 | -1 | c.*21 others(6): Show |
FGFBP2 | ENSG00000137441.8 | transcript | ENST00000259989.7 | protein_coding | 1/1 | chr4 | TogoVar | ||||||
FGFR1_chr8_38406143_38473635 | 38428101 | G | T | splice_region_variant others(1): Show |
LOW | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 336 | 0.0030 | 0 | c.449 others(5): Show |
FGFR1 | ENSG00000077782.23 | transcript | ENST00000447712.7 | protein_coding | 4/17 | chr8 | TogoVar | ||||||
FGFR1_chr8_38406143_38473635 | 38428439 | T | C | splice_region_variant others(1): Show |
LOW | HG01175.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0197 | 1 | 336 | 0.0030 | 0 | c.359 others(5): Show |
FGFR1 | ENSG00000077782.23 | transcript | ENST00000447712.7 | protein_coding | 3/17 | chr8 | TogoVar | ||||||
FGFR2_chr10_121473332_121603444 | 121517461 | G | A | splice_region_variant others(1): Show |
LOW | HG01168.hp2 | a0001 | a0001c0013 | a0001c0013t0003 | a0001c0013t0003g0124 | 1 | 240 | 0.0042 | 0 | c.942 others(3): Show |
p.Ala others(6): Show |
FGFR2 | ENSG00000066468.24 | transcript | ENST00000358487.10 | protein_coding | 8/18 | 1575/4624 | 942/2466 | 314/821 | chr10 | TogoVar | ||
FGFR3_chr4_1788293_1813867 | 1793830 | T | C | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(374): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(56): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(198): Show | 377 | 380 | 0.9921 | 0 | c.-10 others(6): Show |
FGFR3 | ENSG00000068078.20 | transcript | ENST00000440486.8 | protein_coding | 1/17 | chr4 | TogoVar | ||||||
FGFR3_chr4_1788293_1813867 | 1799521 | CAGGTGAG others(24): Show |
C | frameshift_variant others(3): Show |
HIGH | NA18974.hp1 | a0008 | a0008c0022 | a0008c0022t0001 | a0008c0022t0001g0162 | 1 | 380 | 0.0026 | -31 | c.379 others(41): Show |
p.Asp others(5): Show |
FGFR3 | ENSG00000068078.20 | transcript | ENST00000440486.8 | protein_coding | 3/18 | 654/4301 | 379/2421 | 127/806 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
FGFR3_chr4_1788293_1813867 | 1799742 | T | G | splice_region_variant others(1): Show |
LOW | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 380 | 0.0026 | 0 | c.380 others(5): Show |
FGFR3 | ENSG00000068078.20 | transcript | ENST00000440486.8 | protein_coding | 3/17 | chr4 | TogoVar | ||||||
FGFR3_chr4_1788293_1813867 | 1799815 | A | G | splice_region_variant others(1): Show |
LOW | HG01109.hp2 HG01167.hp1 HG01168.hp2 others(27): Show |
a0001a0004a0009 | a0001c0003a0001c0004a0001c0006others(4): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(11): Show | a0001c0003t0001g0124a0001c0003t0002g0128a0001c0003t0003g0127others(22): Show | 30 | 380 | 0.0790 | 0 | c.445 others(5): Show |
FGFR3 | ENSG00000068078.20 | transcript | ENST00000440486.8 | protein_coding | 4/17 | chr4 | TogoVar | ||||||
FGFR3_chr4_1788293_1813867 | 1801542 | C | A | splice_region_variant others(1): Show |
LOW | NA18942.hp2 NA18990.hp1 NA19079.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0064 | 5 | 380 | 0.0132 | 0 | c.615 others(5): Show |
FGFR3 | ENSG00000068078.20 | transcript | ENST00000440486.8 | protein_coding | 5/17 | chr4 | TogoVar | ||||||
FGFR3_chr4_1788293_1813867 | 1801544 | C | G | splice_region_variant others(1): Show |
LOW | HG01167.hp1 HG02109.hp1 HG02622.hp1 others(6): Show |
a0001 | a0001c0003a0001c0004a0001c0014 | a0001c0003t0001a0001c0003t0003a0001c0004t0025others(1): Show | a0001c0003t0001g0149a0001c0003t0003g0127a0001c0003t0003g0129others(5): Show | 9 | 380 | 0.0237 | 0 | c.615 others(5): Show |
FGFR3 | ENSG00000068078.20 | transcript | ENST00000440486.8 | protein_coding | 5/17 | chr4 | TogoVar | ||||||
FGFR3_chr4_1788293_1813867 | 1803684 | C | T | splice_region_variant others(1): Show |
LOW | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 380 | 0.0026 | 0 | c.931 others(5): Show |
FGFR3 | ENSG00000068078.20 | transcript | ENST00000440486.8 | protein_coding | 7/17 | chr4 | TogoVar | ||||||
FGFR3_chr4_1788293_1813867 | 1803841 | C | T | splice_region_variant others(1): Show |
LOW | HG01109.hp2 HG01168.hp2 HG02615.hp1 others(4): Show |
a0001a0004 | a0001c0006a0004c0031a0004c0032 | a0001c0006t0001a0001c0006t0002a0001c0006t0013others(2): Show | a0001c0006t0001g0029a0001c0006t0001g0106a0001c0006t0002g0107others(3): Show | 7 | 380 | 0.0184 | 0 | c.107 others(6): Show |
FGFR3 | ENSG00000068078.20 | transcript | ENST00000440486.8 | protein_coding | 8/17 | chr4 | TogoVar | ||||||
FGFR3_chr4_1788293_1813867 | 1805551 | G | T | splice_region_variant others(1): Show |
LOW | HG03139.hp1 | a0001 | a0001c0004 | a0001c0004t0025 | a0001c0004t0025g0111 | 1 | 380 | 0.0026 | 0 | c.153 others(6): Show |
FGFR3 | ENSG00000068078.20 | transcript | ENST00000440486.8 | protein_coding | 11/17 | chr4 | TogoVar | ||||||
FGFR3_chr4_1788293_1813867 | 1805751 | G | T | splice_region_variant others(1): Show |
LOW | HG01167.hp1 HG02257.hp2 HG02280.hp2 others(2): Show |
a0001 | a0001c0011a0001c0014 | a0001c0011t0001a0001c0014t0001 | a0001c0011t0001g0135a0001c0011t0001g0157a0001c0011t0001g0171others(1): Show | 5 | 380 | 0.0132 | 0 | c.164 others(4): Show |
p.Gly others(6): Show |
FGFR3 | ENSG00000068078.20 | transcript | ENST00000440486.8 | protein_coding | 13/18 | 1922/4301 | 1647/2421 | 549/806 | chr4 | TogoVar | ||
FGFR4_chr5_177081915_177103144 | 177092515 | A | G | splice_region_variant others(1): Show |
LOW | HG01109.hp1 HG01167.hp1 HG01891.hp2 others(6): Show |
a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0046a0003c0007t0001g0194a0003c0007t0001g0195others(5): Show | 9 | 372 | 0.0242 | 0 | c.918 others(5): Show |
FGFR4 | ENSG00000160867.15 | transcript | ENST00000292408.9 | protein_coding | 7/17 | chr5 | TogoVar | ||||||
FGFR4_chr5_177081915_177103144 | 177093756 | GGCCGTCA others(11): Show |
G | disruptive_inframe_deletion others(1): Show |
MODERATE | HG00738.hp2 | a0017 | a0017c0023 | a0017c0023t0001 | a0017c0023t0001g0094 | 1 | 372 | 0.0027 | -18 | c.150 others(27): Show |
p.Ala others(13): Show |
FGFR4 | ENSG00000160867.15 | transcript | ENST00000292408.9 | protein_coding | 11/18 | 1718/3093 | 1502/2409 | 501/802 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |
FGFR4_chr5_177081915_177103144 | 177095727 | C | T | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(282): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0020a0001c0025others(19): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0010others(25): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0012others(182): Show | 285 | 372 | 0.7661 | 0 | c.182 others(6): Show |
FGFR4 | ENSG00000160867.15 | transcript | ENST00000292408.9 | protein_coding | 13/17 | chr5 | TogoVar | ||||||
FGFR4_chr5_177081915_177103144 | 177096185 | G | A | splice_region_variant others(1): Show |
LOW | HG01243.hp1 HG02965.hp1 HG03139.hp2 others(1): Show |
a0004 | a0004c0003a0004c0009 | a0004c0003t0005a0004c0009t0005 | a0004c0003t0005g0202a0004c0003t0005g0203a0004c0009t0005g0204others(1): Show | 4 | 372 | 0.0108 | 0 | c.194 others(6): Show |
FGFR4 | ENSG00000160867.15 | transcript | ENST00000292408.9 | protein_coding | 14/17 | chr5 | TogoVar | ||||||
FGFR4_chr5_177081915_177103144 | 177096284 | C | G | splice_region_variant others(1): Show |
LOW | HG01081.hp1 | a0008 | a0008c0013 | a0008c0013t0001 | a0008c0013t0001g0177 | 1 | 372 | 0.0027 | 0 | c.194 others(6): Show |
FGFR4 | ENSG00000160867.15 | transcript | ENST00000292408.9 | protein_coding | 14/17 | chr5 | TogoVar | ||||||
FGFR4_chr5_177081915_177103144 | 177096355 | C | G | missense_variant others(1): Show |
MODERATE | NA20300.hp2 | a0012 | a0012c0027 | a0012c0027t0003 | a0012c0027t0003g0072 | 1 | 372 | 0.0027 | 0 | c.201 others(4): Show |
p.Asp others(6): Show |
FGFR4 | ENSG00000160867.15 | transcript | ENST00000292408.9 | protein_coding | 15/18 | 2229/3093 | 2013/2409 | 671/802 | chr5 | TogoVar | ||
FGFR4_chr5_177081915_177103144 | 177096356 | G | T | missense_variant others(1): Show |
MODERATE | NA20300.hp2 | a0012 | a0012c0027 | a0012c0027t0003 | a0012c0027t0003g0072 | 1 | 372 | 0.0027 | 0 | c.201 others(4): Show |
p.Val others(6): Show |
FGFR4 | ENSG00000160867.15 | transcript | ENST00000292408.9 | protein_coding | 15/18 | 2230/3093 | 2014/2409 | 672/802 | chr5 | TogoVar | ||
FGFR4_chr5_177081915_177103144 | 177096357 | T | C | missense_variant others(1): Show |
MODERATE | NA20300.hp2 | a0012 | a0012c0027 | a0012c0027t0003 | a0012c0027t0003g0072 | 1 | 372 | 0.0027 | 0 | c.201 others(4): Show |
p.Val others(6): Show |
FGFR4 | ENSG00000160867.15 | transcript | ENST00000292408.9 | protein_coding | 15/18 | 2231/3093 | 2015/2409 | 672/802 | chr5 | TogoVar | ||
FGFR4_chr5_177081915_177103144 | 177096364 | C | T | splice_region_variant others(1): Show |
LOW | NA20300.hp2 | a0012 | a0012c0027 | a0012c0027t0003 | a0012c0027t0003g0072 | 1 | 372 | 0.0027 | 0 | c.201 others(6): Show |
FGFR4 | ENSG00000160867.15 | transcript | ENST00000292408.9 | protein_coding | 15/17 | chr5 | TogoVar | ||||||
FGFR4_chr5_177081915_177103144 | 177096596 | A | C | splice_region_variant others(1): Show |
LOW | HG03139.hp2 | a0004 | a0004c0003 | a0004c0003t0005 | a0004c0003t0005g0202 | 1 | 372 | 0.0027 | 0 | c.201 others(6): Show |
FGFR4 | ENSG00000160867.15 | transcript | ENST00000292408.9 | protein_coding | 15/17 | chr5 | TogoVar | ||||||
FGFR4_chr5_177081915_177103144 | 177096596 | A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(302): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0020a0001c0025others(23): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0010others(30): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0012others(199): Show | 305 | 372 | 0.8199 | 0 | c.201 others(6): Show |
FGFR4 | ENSG00000160867.15 | transcript | ENST00000292408.9 | protein_coding | 15/17 | chr5 | TogoVar | ||||||
FGFR4_chr5_177081915_177103144 | 177096746 | G | C | splice_region_variant others(1): Show |
LOW | NA20300.hp2 | a0012 | a0012c0027 | a0012c0027t0003 | a0012c0027t0003g0072 | 1 | 372 | 0.0027 | 0 | c.215 others(6): Show |
FGFR4 | ENSG00000160867.15 | transcript | ENST00000292408.9 | protein_coding | 16/17 | chr5 | TogoVar | ||||||
FGFR4_chr5_177081915_177103144 | 177096748 | C | G | splice_region_variant others(1): Show |
LOW | NA20300.hp2 | a0012 | a0012c0027 | a0012c0027t0003 | a0012c0027t0003g0072 | 1 | 372 | 0.0027 | 0 | c.215 others(6): Show |
FGFR4 | ENSG00000160867.15 | transcript | ENST00000292408.9 | protein_coding | 16/17 | chr5 | TogoVar | ||||||
FGGY_chr1_59292094_59767730 | 59321532 | A | G | splice_region_variant others(1): Show |
LOW | NA19240.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0048 | 1 | 166 | 0.0060 | 0 | c.-14 others(5): Show |
FGGY | ENSG00000172456.18 | transcript | ENST00000303721.12 | protein_coding | 1/15 | chr1 | TogoVar | ||||||
FGGY_chr1_59292094_59767730 | 59321533 | T | C | splice_region_variant others(1): Show |
LOW | HG01109.hp2 HG01256.hp1 homoSapiens_chm13v2.hp1 |
a0002a0006 | a0002c0002a0006c0009 | a0002c0002t0002a0006c0009t0002 | a0002c0002t0002g0055a0002c0002t0002g0056a0006c0009t0002g0057 | 3 | 166 | 0.0181 | 0 | c.-14 others(5): Show |
FGGY | ENSG00000172456.18 | transcript | ENST00000303721.12 | protein_coding | 1/15 | chr1 | TogoVar | ||||||
FGGY_chr1_59292094_59767730 | 59554231 | A | G | splice_region_variant others(1): Show |
LOW | HG01255.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0075 | 1 | 166 | 0.0060 | 0 | c.903 others(5): Show |
FGGY | ENSG00000172456.18 | transcript | ENST00000303721.12 | protein_coding | 8/15 | chr1 | TogoVar | ||||||
FGGY_chr1_59292094_59767730 | 59660211 | G | C | splice_region_variant others(1): Show |
LOW | NA18522.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0013 | 1 | 166 | 0.0060 | 0 | c.122 others(6): Show |
FGGY | ENSG00000172456.18 | transcript | ENST00000303721.12 | protein_coding | 11/15 | chr1 | TogoVar | ||||||
FGG_chr4_154599171_154617656 | 154611896 | T | A | missense_variant others(1): Show |
MODERATE | NA19006.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0049 | 1 | 426 | 0.0024 | 0 | c.310 others(3): Show |
p.Met others(6): Show |
FGG | ENSG00000171557.17 | transcript | ENST00000336098.8 | protein_coding | 4/9 | 357/2072 | 310/1362 | 104/453 | chr4 | TogoVar | ||
FGL1_chr8_17859389_17900524 | 17882182 | G | C | splice_region_variant others(1): Show |
LOW | HG02258.hp1 HG02630.hp1 HG02809.hp2 others(2): Show |
a0004 | a0004c0004 | a0004c0004t0001a0004c0004t0004 | a0004c0004t0001g0042a0004c0004t0001g0043a0004c0004t0001g0044others(2): Show | 5 | 366 | 0.0137 | 0 | c.64- others(4): Show |
FGL1 | ENSG00000104760.17 | transcript | ENST00000427924.5 | protein_coding | 2/7 | chr8 | TogoVar | ||||||
FGL1_chr8_17859389_17900524 | 17882183 | C | A | splice_region_variant others(1): Show |
LOW | HG03098.hp1 HG03471.hp2 NA20129.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0066a0002c0002t0001g0067a0002c0002t0001g0068 | 3 | 366 | 0.0082 | 0 | c.64- others(4): Show |
FGL1 | ENSG00000104760.17 | transcript | ENST00000427924.5 | protein_coding | 2/7 | chr8 | TogoVar | ||||||
FGR_chr1_27607064_27640185 | 27613213 | G | A | splice_region_variant others(1): Show |
LOW | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 278 | 0.0036 | 0 | c.138 others(6): Show |
FGR | ENSG00000000938.13 | transcript | ENST00000374005.8 | protein_coding | 12/12 | chr1 | TogoVar | ||||||
FGR_chr1_27607064_27640185 | 27617014 | G | C | splice_region_variant others(1): Show |
LOW | HG00621.hp2 HG01928.hp1 HG02273.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024a0001c0001t0001g0127a0001c0001t0001g0132others(3): Show | 7 | 278 | 0.0252 | 0 | c.533 others(5): Show |
FGR | ENSG00000000938.13 | transcript | ENST00000374005.8 | protein_coding | 6/12 | chr1 | TogoVar | ||||||
FHAD1_chr1_15242223_15403328 | 15272316 | G | A | splice_region_variant others(1): Show |
LOW | HG02145.hp2 HG02922.hp2 HG02965.hp1 others(1): Show |
a0001a0007a0047 | a0001c0001a0001c0002a0007c0033others(1): Show | a0001c0001t0013a0001c0002t0049a0007c0033t0014others(1): Show | a0001c0001t0013g0104a0001c0002t0049g0101a0007c0033t0014g0068others(1): Show | 4 | 294 | 0.0136 | 0 | c.94- others(4): Show |
FHAD1 | ENSG00000142621.21 | transcript | ENST00000688493.1 | protein_coding | 2/33 | chr1 | TogoVar | ||||||
FHAD1_chr1_15242223_15403328 | 15272529 | G | A | splice_region_variant others(1): Show |
LOW | HG00438.hp1 HG00544.hp1 HG00735.hp2 others(32): Show |
a0001a0002a0003others(9): Show | a0001c0008a0001c0010a0001c0015others(16): Show | a0001c0008t0002a0001c0008t0008a0001c0008t0012others(22): Show | a0001c0008t0002g0095a0001c0008t0008g0204a0001c0008t0012g0205others(32): Show | 35 | 294 | 0.1191 | 0 | c.300 others(3): Show |
p.Pro others(6): Show |
FHAD1 | ENSG00000142621.21 | transcript | ENST00000688493.1 | protein_coding | 3/34 | 487/5542 | 300/4440 | 100/1479 | chr1 | TogoVar | ||
FHAD1_chr1_15242223_15403328 | 15324566 | A | G | splice_region_variant others(1): Show |
LOW | HG00558.hp1 HG00735.hp2 HG00738.hp2 others(70): Show |
a0001a0002a0003others(28): Show | a0001c0013a0001c0015a0001c0032others(46): Show | a0001c0013t0001a0001c0013t0011a0001c0015t0001others(53): Show | a0001c0013t0001g0045a0001c0013t0001g0051a0001c0013t0001g0053others(70): Show | 73 | 294 | 0.2483 | 0 | c.147 others(6): Show |
FHAD1 | ENSG00000142621.21 | transcript | ENST00000688493.1 | protein_coding | 11/33 | chr1 | TogoVar | ||||||
FHAD1_chr1_15242223_15403328 | 15327059 | C | G | missense_variant others(1): Show |
MODERATE | HG02965.hp2 HG02970.hp1 HG03041.hp1 others(1): Show |
a0018a0056 | a0018c0020a0056c0103 | a0018c0020t0022a0056c0103t0051 | a0018c0020t0022g0239a0018c0020t0022g0240a0018c0020t0022g0241others(1): Show | 4 | 294 | 0.0136 | 0 | c.147 others(4): Show |
p.Leu others(6): Show |
FHAD1 | ENSG00000142621.21 | transcript | ENST00000688493.1 | protein_coding | 12/34 | 1661/5542 | 1474/4440 | 492/1479 | chr1 | TogoVar | ||
FHAD1_chr1_15242223_15403328 | 15352987 | A | G | splice_region_variant others(1): Show |
LOW | NA18956.hp1 NA18956.hp2 |
a0001a0002 | a0001c0002a0002c0007 | a0001c0002t0001a0002c0007t0003 | a0001c0002t0001g0079a0002c0007t0003g0186 | 2 | 294 | 0.0068 | 0 | c.256 others(6): Show |
FHAD1 | ENSG00000142621.21 | transcript | ENST00000688493.1 | protein_coding | 20/33 | chr1 | TogoVar | ||||||
FHAD1_chr1_15242223_15403328 | 15367456 | C | G | splice_region_variant others(1): Show |
LOW | HG02572.hp1 | a0014 | a0014c0110 | a0014c0110t0008 | a0014c0110t0008g0254 | 1 | 294 | 0.0034 | 0 | c.315 others(6): Show |
FHAD1 | ENSG00000142621.21 | transcript | ENST00000688493.1 | protein_coding | 24/33 | chr1 | TogoVar | ||||||
FHAD1_chr1_15242223_15403328 | 15375729 | C | A | missense_variant others(1): Show |
MODERATE | HG02559.hp1 | a0059 | a0059c0104 | a0059c0104t0045 | a0059c0104t0045g0014 | 1 | 294 | 0.0034 | 0 | c.370 others(4): Show |
p.Ala others(7): Show |
FHAD1 | ENSG00000142621.21 | transcript | ENST00000688493.1 | protein_coding | 28/34 | 3891/5542 | 3704/4440 | 1235/1479 | chr1 | TogoVar |