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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FBXL14_chr12_1560993_1599581 | 1593826 | T | TGCGGCGG others(17): Show |
conservative_inframe_insertion | MODERATE | NA18983.hp2 | a0002 | a0002c0008 | a0002c0008t0002 | a0002c0008t0002g0348 | 1 | 418 | 0.0024 | 24 | c.217 others(31): Show |
p.Arg others(35): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/2 | 755/2527 | 240/1257 | 80/418 | chr12 | TogoVar | ||
FBXO11_chr2_47801920_47911498 | 47905551 | G | GGCT | conservative_inframe_insertion | MODERATE | HG00741.hp2 NA19091.hp1 NA20300.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0014a0003c0003t0001g0015a0003c0003t0001g0016 | 3 | 318 | 0.0094 | 3 | c.167 others(10): Show |
p.Gln others(5): Show |
FBXO11 | ENSG00000138081.22 | transcript | ENST00000403359.8 | protein_coding | 1/23 | 947/4760 | 169/2784 | 57/927 | chr2 | TogoVar | ||
FBXO45_chr3_196563660_196594059 | 196569054 | G | GCGGGCGC others(5): Show |
conservative_inframe_insertion | MODERATE | HG02647.hp2 HG03540.hp2 |
a0003 | a0003c0005 | a0003c0005t0011 | a0003c0005t0011g0047 | 2 | 452 | 0.0044 | 12 | c.76_ others(17): Show |
p.Ala others(11): Show |
FBXO45 | ENSG00000174013.8 | transcript | ENST00000311630.7 | protein_coding | 1/3 | 413/5927 | 88/861 | 30/286 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
FKBP15_chr9_113156006_113226277 | 113169870 | T | TTTC | conservative_inframe_insertion | MODERATE | HG00423.hp2 HG01433.hp2 HG02132.hp1 others(18): Show |
a0005a0010a0011others(2): Show | a0005c0007a0010c0013a0011c0023others(4): Show | a0005c0007t0010a0005c0007t0028a0010c0013t0020others(7): Show | a0005c0007t0010g0007a0005c0007t0010g0065a0005c0007t0010g0076others(17): Show | 21 | 410 | 0.0512 | 3 | c.283 others(12): Show |
p.Glu others(6): Show |
FKBP15 | ENSG00000119321.10 | transcript | ENST00000238256.8 | protein_coding | 26/28 | 2872/8766 | 2838/3660 | 946/1219 | chr9 | TogoVar | ||
FKBPL_chr6_32123707_32135288 | 32129540 | G | GAGACTTA others(5): Show |
conservative_inframe_insertion | MODERATE | HG01934.hp1 HG01975.hp2 HG01993.hp2 others(4): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0007 | 7 | 425 | 0.0165 | 12 | c.229 others(19): Show |
p.Ser others(23): Show |
FKBPL | ENSG00000204315.4 | transcript | ENST00000375156.4 | protein_coding | 2/2 | 508/1342 | 240/1050 | 80/349 | chr6 | TogoVar | ||
FLG_chr1_152297165_152330239 | 152304195 | C | CGATGGTT others(968): Show |
conservative_inframe_insertion | MODERATE | HG03710.hp1 HG04184.hp1 |
a0051 | a0051c0057 | a0051c0057t0001 | a0051c0057t0001g0073a0051c0057t0001g0098 | 2 | 426 | 0.0047 | 975 | c.106 others(986): Show |
p.His others(990): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 10762/12793 | 10690/12186 | 3564/4061 | chr1 | TogoVar | ||
FLG_chr1_152297165_152330239 | 152304195 | C | CGATGGTT others(968): Show |
conservative_inframe_insertion | MODERATE | HG00423.hp1 | a0011 | a0011c0175 | a0011c0175t0001 | a0011c0175t0001g0111 | 1 | 426 | 0.0024 | 975 | c.106 others(986): Show |
p.His others(990): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 10762/12793 | 10690/12186 | 3564/4061 | chr1 | TogoVar | ||
FLG_chr1_152297165_152330239 | 152304195 | C | CGATGGTT others(968): Show |
conservative_inframe_insertion | MODERATE | NA18961.hp1 NA19003.hp2 |
a0117a0134 | a0117c0168a0134c0152 | a0117c0168t0001a0134c0152t0001 | a0117c0168t0001g0121a0134c0152t0001g0120 | 2 | 426 | 0.0047 | 975 | c.106 others(986): Show |
p.His others(990): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 10762/12793 | 10690/12186 | 3564/4061 | chr1 | TogoVar | ||
FLG_chr1_152297165_152330239 | 152304195 | C | CGATGGTT others(968): Show |
conservative_inframe_insertion | MODERATE | NA18982.hp2 | a0057 | a0057c0187 | a0057c0187t0001 | a0057c0187t0001g0128 | 1 | 426 | 0.0024 | 975 | c.106 others(986): Show |
p.His others(990): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 10762/12793 | 10690/12186 | 3564/4061 | chr1 | TogoVar | ||
FLG_chr1_152297165_152330239 | 152304195 | C | CGATGGTT others(968): Show |
conservative_inframe_insertion | MODERATE | NA18986.hp1 | a0137 | a0137c0157 | a0137c0157t0001 | a0137c0157t0001g0070 | 1 | 426 | 0.0024 | 975 | c.106 others(986): Show |
p.His others(990): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 10762/12793 | 10690/12186 | 3564/4061 | chr1 | TogoVar | ||
FLG_chr1_152297165_152330239 | 152304195 | C | CGATGGTT others(968): Show |
conservative_inframe_insertion | MODERATE | HG02273.hp1 | a0135 | a0135c0158 | a0135c0158t0001 | a0135c0158t0001g0067 | 1 | 426 | 0.0024 | 975 | c.106 others(986): Show |
p.His others(990): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 10762/12793 | 10690/12186 | 3564/4061 | chr1 | TogoVar | ||
FLG_chr1_152297165_152330239 | 152304195 | C | CGATGGTT others(968): Show |
conservative_inframe_insertion | MODERATE | HG00323.hp1 HG00323.hp2 HG00544.hp1 others(132): Show |
a0001a0004a0011others(45): Show | a0001c0001a0001c0058a0001c0170others(48): Show | a0001c0001t0001a0001c0058t0001a0001c0170t0001others(48): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0017others(66): Show | 135 | 426 | 0.3169 | 975 | c.106 others(986): Show |
p.His others(990): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 10762/12793 | 10690/12186 | 3564/4061 | chr1 | TogoVar | ||
FLG_chr1_152297165_152330239 | 152304195 | C | CGATGGTT others(2915): Show |
conservative_inframe_insertion | MODERATE | HG01261.hp1 | a0136 | a0136c0156 | a0136c0156t0001 | a0136c0156t0001g0077 | 1 | 426 | 0.0024 | 2922 | c.106 others(2933): Show |
p.His others(2937): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 10762/12793 | 10690/12186 | 3564/4061 | chr1 | TogoVar | ||
FLG_chr1_152297165_152330239 | 152304195 | C | CGATGGTT others(968): Show |
conservative_inframe_insertion | MODERATE | NA18966.hp1 NA18981.hp2 NA19080.hp1 others(1): Show |
a0015 | a0015c0018 | a0015c0018t0001 | a0015c0018t0001g0014 | 4 | 426 | 0.0094 | 975 | c.106 others(986): Show |
p.His others(990): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 10762/12793 | 10690/12186 | 3564/4061 | chr1 | TogoVar | ||
FLG_chr1_152297165_152330239 | 152304195 | C | CGATGGTT others(968): Show |
conservative_inframe_insertion | MODERATE | HG02451.hp2 HG02970.hp1 HG03130.hp1 others(2): Show |
a0026a0111a0112 | a0026c0033a0111c0137a0112c0180 | a0026c0033t0001a0111c0137t0001a0112c0180t0001 | a0026c0033t0001g0024a0111c0137t0001g0131a0112c0180t0001g0132 | 5 | 426 | 0.0117 | 975 | c.106 others(986): Show |
p.His others(990): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 10762/12793 | 10690/12186 | 3564/4061 | chr1 | TogoVar | ||
FLG_chr1_152297165_152330239 | 152304195 | C | CGATGGTT others(968): Show |
conservative_inframe_insertion | MODERATE | HG00438.hp1 HG02027.hp2 HG02040.hp1 others(1): Show |
a0034a0063a0072 | a0034c0054a0063c0135a0072c0134 | a0034c0054t0001a0063c0135t0001a0072c0134t0001 | a0034c0054t0001g0064a0063c0135t0001g0234a0072c0134t0001g0233 | 4 | 426 | 0.0094 | 975 | c.106 others(986): Show |
p.His others(990): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 10762/12793 | 10690/12186 | 3564/4061 | chr1 | TogoVar | ||
FLG_chr1_152297165_152330239 | 152304195 | C | CGATGGTT others(968): Show |
conservative_inframe_insertion | MODERATE | HG02970.hp2 | a0160 | a0160c0191 | a0160c0191t0001 | a0160c0191t0001g0137 | 1 | 426 | 0.0024 | 975 | c.106 others(986): Show |
p.His others(990): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 10762/12793 | 10690/12186 | 3564/4061 | chr1 | TogoVar | ||
FLG_chr1_152297165_152330239 | 152304195 | C | CGATGGTT others(968): Show |
conservative_inframe_insertion | MODERATE | HG02280.hp2 HG03098.hp2 HG03516.hp2 others(1): Show |
a0055a0158a0159 | a0055c0062a0158c0190a0159c0189 | a0055c0062t0001a0158c0190t0001a0159c0189t0001 | a0055c0062t0001g0134a0055c0062t0001g0136a0158c0190t0001g0135others(1): Show | 4 | 426 | 0.0094 | 975 | c.106 others(986): Show |
p.His others(990): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 10762/12793 | 10690/12186 | 3564/4061 | chr1 | TogoVar | ||
FLG_chr1_152297165_152330239 | 152304963 | T | TGGA | conservative_inframe_insertion | MODERATE | HG01433.hp2 HG01884.hp2 HG02109.hp1 others(34): Show |
a0010a0012a0019others(16): Show | a0010c0010a0012c0012a0012c0063others(18): Show | a0010c0010t0001a0012c0012t0002a0012c0063t0002others(18): Show | a0010c0010t0001g0026a0010c0010t0001g0063a0010c0010t0001g0138others(25): Show | 37 | 426 | 0.0869 | 3 | c.992 others(12): Show |
p.Gln others(18): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 9994/12793 | 9922/12186 | 3308/4061 | chr1 | TogoVar | ||
FLG_chr1_152297165_152330239 | 152305167 | C | CGATGGTT others(965): Show |
conservative_inframe_insertion | MODERATE | HG02451.hp2 HG03130.hp1 |
a0111a0112 | a0111c0137a0112c0180 | a0111c0137t0001a0112c0180t0001 | a0111c0137t0001g0131a0112c0180t0001g0132 | 2 | 426 | 0.0047 | 972 | c.971 others(981): Show |
p.His others(987): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 9790/12793 | 9718/12186 | 3240/4061 | chr1 | TogoVar | ||
FLG_chr1_152297165_152330239 | 152305366 | T | TGTCTCCT others(965): Show |
conservative_inframe_insertion | MODERATE | HG02970.hp2 | a0160 | a0160c0191 | a0160c0191t0001 | a0160c0191t0001g0137 | 1 | 426 | 0.0024 | 972 | c.951 others(981): Show |
p.Asp others(987): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 9591/12793 | 9519/12186 | 3173/4061 | chr1 | TogoVar | ||
FLG_chr1_152297165_152330239 | 152305366 | T | TGTCTCCT others(965): Show |
conservative_inframe_insertion | MODERATE | HG02280.hp2 HG03098.hp2 HG03516.hp2 |
a0055a0158 | a0055c0062a0158c0190 | a0055c0062t0001a0158c0190t0001 | a0055c0062t0001g0134a0055c0062t0001g0136a0158c0190t0001g0135 | 3 | 426 | 0.0070 | 972 | c.951 others(981): Show |
p.Asp others(987): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 9591/12793 | 9519/12186 | 3173/4061 | chr1 | TogoVar | ||
FLG_chr1_152297165_152330239 | 152305366 | T | TGTCTCCT others(965): Show |
conservative_inframe_insertion | MODERATE | NA19030.hp1 | a0159 | a0159c0189 | a0159c0189t0001 | a0159c0189t0001g0133 | 1 | 426 | 0.0024 | 972 | c.951 others(981): Show |
p.Asp others(987): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 9591/12793 | 9519/12186 | 3173/4061 | chr1 | TogoVar | ||
FLG_chr1_152297165_152330239 | 152305366 | T | TGTCTCCT others(965): Show |
conservative_inframe_insertion | MODERATE | NA20905.hp1 | a0115 | a0115c0178 | a0115c0178t0001 | a0115c0178t0001g0122 | 1 | 426 | 0.0024 | 972 | c.951 others(981): Show |
p.Asp others(987): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 9591/12793 | 9519/12186 | 3173/4061 | chr1 | TogoVar | ||
FLG_chr1_152297165_152330239 | 152305366 | T | TGTCTCCT others(965): Show |
conservative_inframe_insertion | MODERATE | HG02080.hp2 | a0073 | a0073c0125 | a0073c0125t0001 | a0073c0125t0001g0221 | 1 | 426 | 0.0024 | 972 | c.951 others(981): Show |
p.Asp others(987): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 9591/12793 | 9519/12186 | 3173/4061 | chr1 | TogoVar | ||
FLG_chr1_152297165_152330239 | 152305573 | A | ATTGGGAT others(965): Show |
conservative_inframe_insertion | MODERATE | HG00140.hp2 HG02300.hp1 HG02572.hp1 |
a0039a0090 | a0039c0037a0090c0107 | a0039c0037t0001a0090c0107t0001 | a0039c0037t0001g0051a0090c0107t0001g0195 | 3 | 426 | 0.0070 | 972 | c.931 others(981): Show |
p.Gln others(987): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 9384/12793 | 9312/12186 | 3104/4061 | chr1 | TogoVar | ||
FLG_chr1_152297165_152330239 | 152305573 | A | ATTGGGAT others(965): Show |
conservative_inframe_insertion | MODERATE | HG03041.hp2 HG03579.hp1 HG06807.hp1 others(1): Show |
a0013 | a0013c0015 | a0013c0015t0001 | a0013c0015t0001g0065a0013c0015t0001g0235a0013c0015t0001g0236 | 4 | 426 | 0.0094 | 972 | c.931 others(981): Show |
p.Gln others(987): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 9384/12793 | 9312/12186 | 3104/4061 | chr1 | TogoVar | ||
FLG_chr1_152297165_152330239 | 152306079 | T | TCTTCTTG others(965): Show |
conservative_inframe_insertion | MODERATE | HG01243.hp1 HG03654.hp1 NA18612.hp2 others(17): Show |
a0006a0027a0058others(2): Show | a0006c0006a0006c0136a0027c0032others(3): Show | a0006c0006t0001a0006c0136t0001a0027c0032t0001others(3): Show | a0006c0006t0001g0003a0006c0136t0001g0124a0027c0032t0001g0022others(3): Show | 20 | 426 | 0.0470 | 972 | c.880 others(981): Show |
p.Glu others(987): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 8878/12793 | 8806/12186 | 2936/4061 | chr1 | TogoVar | ||
FLG_chr1_152297165_152330239 | 152306380 | T | TTCTGGAT others(965): Show |
conservative_inframe_insertion | MODERATE | HG00597.hp1 | a0056 | a0056c0188 | a0056c0188t0001 | a0056c0188t0001g0113 | 1 | 426 | 0.0024 | 972 | c.850 others(981): Show |
p.Arg others(987): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 8577/12793 | 8505/12186 | 2835/4061 | chr1 | TogoVar | ||
FLG_chr1_152297165_152330239 | 152306380 | T | TTCTGGAT others(965): Show |
conservative_inframe_insertion | MODERATE | HG00738.hp2 | a0133 | a0133c0160 | a0133c0160t0001 | a0133c0160t0001g0072 | 1 | 426 | 0.0024 | 972 | c.850 others(981): Show |
p.Arg others(987): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 8577/12793 | 8505/12186 | 2835/4061 | chr1 | TogoVar | ||
FLG_chr1_152297165_152330239 | 152306380 | T | TTCTGGAT others(965): Show |
conservative_inframe_insertion | MODERATE | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(130): Show |
a0001a0004a0011others(39): Show | a0001c0001a0001c0058a0001c0170others(43): Show | a0001c0001t0001a0001c0058t0001a0001c0170t0001others(43): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0017others(62): Show | 133 | 426 | 0.3122 | 972 | c.850 others(981): Show |
p.Arg others(987): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 8577/12793 | 8505/12186 | 2835/4061 | chr1 | TogoVar | ||
FLG_chr1_152297165_152330239 | 152306380 | T | TTCTGGAT others(8747): Show |
conservative_inframe_insertion | MODERATE | NA18940.hp1 | a0139 | a0139c0068 | a0139c0068t0001 | a0139c0068t0001g0082 | 1 | 426 | 0.0024 | 8754 | c.850 others(8763): Show |
p.Arg others(8769): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 8577/12793 | 8505/12186 | 2835/4061 | chr1 | TogoVar | ||
FLG_chr1_152297165_152330239 | 152306380 | T | TTCTGGAT others(965): Show |
conservative_inframe_insertion | MODERATE | HG03017.hp2 | a0144 | a0144c0151 | a0144c0151t0001 | a0144c0151t0001g0093 | 1 | 426 | 0.0024 | 972 | c.850 others(981): Show |
p.Arg others(987): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 8577/12793 | 8505/12186 | 2835/4061 | chr1 | TogoVar | ||
FLG_chr1_152297165_152330239 | 152306380 | T | TTCTGGAT others(965): Show |
conservative_inframe_insertion | MODERATE | HG02027.hp1 | a0123 | a0123c0144 | a0123c0144t0001 | a0123c0144t0001g0089 | 1 | 426 | 0.0024 | 972 | c.850 others(981): Show |
p.Arg others(987): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 8577/12793 | 8505/12186 | 2835/4061 | chr1 | TogoVar | ||
FLG_chr1_152297165_152330239 | 152306380 | T | TTCTGGAT others(1937): Show |
conservative_inframe_insertion | MODERATE | HG02896.hp2 HG02897.hp2 |
a0050 | a0050c0059 | a0050c0059t0001 | a0050c0059t0001g0037 | 2 | 426 | 0.0047 | 1944 | c.850 others(1953): Show |
p.Arg others(1959): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 8577/12793 | 8505/12186 | 2835/4061 | chr1 | TogoVar | ||
FLG_chr1_152297165_152330239 | 152306380 | T | TTCTGGAT others(965): Show |
conservative_inframe_insertion | MODERATE | NA18961.hp1 NA19003.hp2 |
a0117a0134 | a0117c0168a0134c0152 | a0117c0168t0001a0134c0152t0001 | a0117c0168t0001g0121a0134c0152t0001g0120 | 2 | 426 | 0.0047 | 972 | c.850 others(981): Show |
p.Arg others(987): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 8577/12793 | 8505/12186 | 2835/4061 | chr1 | TogoVar | ||
FLG_chr1_152297165_152330239 | 152306380 | T | TTCTGGAT others(965): Show |
conservative_inframe_insertion | MODERATE | NA18986.hp2 | a0143 | a0143c0153 | a0143c0153t0001 | a0143c0153t0001g0094 | 1 | 426 | 0.0024 | 972 | c.850 others(981): Show |
p.Arg others(987): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 8577/12793 | 8505/12186 | 2835/4061 | chr1 | TogoVar | ||
FLG_chr1_152297165_152330239 | 152306400 | C | CGGGAGGC others(965): Show |
conservative_inframe_insertion | MODERATE | HG00741.hp1 | a0132 | a0132c0150 | a0132c0150t0001 | a0132c0150t0001g0071 | 1 | 426 | 0.0024 | 972 | c.848 others(981): Show |
p.Ser others(987): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 8557/12793 | 8485/12186 | 2829/4061 | chr1 | TogoVar | ||
FLG_chr1_152297165_152330239 | 152306538 | T | TGACCGTC others(965): Show |
conservative_inframe_insertion | MODERATE | HG03704.hp2 | a0089 | a0089c0079 | a0089c0079t0001 | a0089c0079t0001g0220 | 1 | 426 | 0.0024 | 972 | c.834 others(981): Show |
p.Gly others(987): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 8419/12793 | 8347/12186 | 2783/4061 | chr1 | TogoVar | ||
FLG_chr1_152297165_152330239 | 152306869 | C | CGTGCCCA others(965): Show |
conservative_inframe_insertion | MODERATE | NA18948.hp1 | a0085 | a0085c0081 | a0085c0081t0001 | a0085c0081t0001g0170 | 1 | 426 | 0.0024 | 972 | c.801 others(981): Show |
p.His others(987): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 8088/12793 | 8016/12186 | 2672/4061 | chr1 | TogoVar | ||
FLG_chr1_152297165_152330239 | 152307223 | C | CTGATTGT others(965): Show |
conservative_inframe_insertion | MODERATE | HG02451.hp2 HG03130.hp1 |
a0111a0112 | a0111c0137a0112c0180 | a0111c0137t0001a0112c0180t0001 | a0111c0137t0001g0131a0112c0180t0001g0132 | 2 | 426 | 0.0047 | 972 | c.766 others(981): Show |
p.Ser others(987): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 7734/12793 | 7662/12186 | 2554/4061 | chr1 | TogoVar | ||
FMN2_chr1_240086883_240480187 | 240208172 | T | TCCTCCCC others(125): Show |
conservative_inframe_insertion | MODERATE | HG02647.hp1 HG02922.hp1 HG02965.hp2 |
a0038a0040a0074 | a0038c0126a0040c0090a0074c0058 | a0038c0126t0008a0040c0090t0002a0074c0058t0001 | a0038c0126t0008g0156a0040c0090t0002g0081a0074c0058t0001g0143 | 3 | 174 | 0.0172 | 132 | c.344 others(141): Show |
p.Gly others(15): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 5/18 | 3669/6429 | 3442/5169 | 1148/1722 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
FMO2_chr1_171180300_171217686 | 171193412 | T | TGAC | conservative_inframe_insertion | MODERATE | HG01123.hp1 HG01192.hp1 HG01243.hp1 others(21): Show |
a0006 | a0006c0006 | a0006c0006t0006a0006c0006t0011a0006c0006t0016 | a0006c0006t0006g0007a0006c0006t0006g0036a0006c0006t0006g0112others(13): Show | 24 | 366 | 0.0656 | 3 | c.211 others(10): Show |
p.Asp others(5): Show |
FMO2 | ENSG00000094963.14 | transcript | ENST00000209929.10 | protein_coding | 3/9 | 280/5215 | 214/1608 | 72/535 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
FOSL2_chr2_28387858_28422317 | 28404112 | C | CAGGTGCT others(38): Show |
conservative_inframe_insertion | MODERATE | NA19072.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0117 | 1 | 364 | 0.0028 | 45 | c.108 others(52): Show |
p.Arg others(56): Show |
FOSL2 | ENSG00000075426.12 | transcript | ENST00000264716.9 | protein_coding | 2/4 | 972/6713 | 109/981 | 37/326 | chr2 | TogoVar | ||
FOXD2_chr1_47433044_47445691 | 47438996 | T | TCCGCAC | conservative_inframe_insertion | MODERATE | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(408): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0003a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0003g0000others(38): Show | 411 | 416 | 0.9880 | 6 | c.874 others(13): Show |
p.Pro others(13): Show |
FOXD2 | ENSG00000186564.6 | transcript | ENST00000334793.6 | protein_coding | 1/1 | 972/2648 | 880/1488 | 294/495 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
FOXD4L1_chr2_113493665_113506150 | 113499481 | G | GGGC | conservative_inframe_insertion | MODERATE | HG00140.hp1 HG00423.hp1 HG00438.hp1 others(99): Show |
a0000a0005 | a0000c0002a0000c0005a0000c0009others(5): Show | a0000c0002t0002a0000c0002t0014a0000c0002t0016others(7): Show | a0000c0002t0002g0000a0000c0002t0014g0000a0000c0002t0016g0000others(7): Show | 102 | 326 | 0.3129 | 3 | c.232 others(10): Show |
p.Gly others(5): Show |
FOXD4L1 | ENSG00000184492.7 | transcript | ENST00000306507.7 | protein_coding | 1/1 | 827/2486 | 235/1227 | 79/408 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
FOXD4L1_chr2_113493665_113506150 | 113499643 | G | GCTCAGCG others(17): Show |
conservative_inframe_insertion | MODERATE | NA18968.hp1 | a0005 | a0005c0019 | a0005c0019t0015 | a0005c0019t0015g0000 | 1 | 326 | 0.0031 | 24 | c.388 others(31): Show |
p.Leu others(13): Show |
FOXD4L1 | ENSG00000184492.7 | transcript | ENST00000306507.7 | protein_coding | 1/1 | 1004/2486 | 412/1227 | 138/408 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
FOXD4L5_chr9_65277101_65290209 | 65283200 | G | GTCC | conservative_inframe_insertion | MODERATE | HG02559.hp1 HG02615.hp2 HG03516.hp2 |
a0000 | a0000c0007 | a0000c0007t0009 | a0000c0007t0009g0000 | 3 | 81 | 0.0370 | 3 | c.117 others(12): Show |
p.Arg others(6): Show |
FOXD4L5 | ENSG00000204779.2 | transcript | ENST00000377420.1 | protein_coding | 1/1 | 2009/3109 | 1177/1251 | 393/416 | chr9 | TogoVar | ||
FOXF2_chr6_1384576_1400603 | 1390041 | C | CCCG | conservative_inframe_insertion | MODERATE | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(28): Show |
a0003a0005 | a0003c0004a0003c0017a0005c0008 | a0003c0004t0001a0003c0017t0007a0005c0008t0001 | a0003c0004t0001g0001a0003c0004t0001g0006a0003c0004t0001g0007others(10): Show | 31 | 450 | 0.0689 | 3 | c.121 others(10): Show |
p.Ala others(5): Show |
FOXF2 | ENSG00000137273.6 | transcript | ENST00000645481.2 | protein_coding | 1/2 | 496/2451 | 124/1335 | 42/444 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
FOXF2_chr6_1384576_1400603 | 1390041 | C | CCCGCCGC others(5): Show |
conservative_inframe_insertion | MODERATE | HG01981.hp2 | a0007 | a0007c0018 | a0007c0018t0001 | a0007c0018t0001g0001 | 1 | 450 | 0.0022 | 12 | c.112 others(19): Show |
p.Ala others(11): Show |
FOXF2 | ENSG00000137273.6 | transcript | ENST00000645481.2 | protein_coding | 1/2 | 496/2451 | 124/1335 | 42/444 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |