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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FLT3_chr13_27998274_28105576 | 28070610 | C | G | missense_variant others(1): Show |
MODERATE | NA18522.hp2 | a0017 | a0017c0033 | a0017c0033t0001 | a0017c0033t0001g0200 | 1 | 292 | 0.0034 | 0 | c.46G others(2): Show |
p.Val others(5): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 2/24 | 112/3826 | 46/2982 | 16/993 | chr13 | TogoVar | ||
FLT4_chr5_180596506_180654600 | 180614180 | CTGGGGAG others(27): Show |
C | splice_acceptor_variant others(2): Show |
HIGH | HG01167.hp1 HG02109.hp1 HG02809.hp2 others(3): Show |
a0006a0021a0024 | a0006c0014a0006c0033a0021c0034others(1): Show | a0006c0014t0002a0006c0014t0009a0006c0033t0009others(2): Show | a0006c0014t0002g0374a0006c0014t0009g0301a0006c0014t0009g0302others(3): Show | 6 | 388 | 0.0155 | -34 | c.322 others(48): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 23/29 | chr5 | TogoVar | ||||||
FLT4_chr5_180596506_180654600 | 180619372 | G | A | splice_region_variant others(1): Show |
LOW | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 388 | 0.0026 | 0 | c.264 others(6): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 18/29 | chr5 | TogoVar | ||||||
FLYWCH1_chr16_2906931_2956208 | 2933122 | T | C | splice_region_variant others(1): Show |
LOW | HG02040.hp1 HG02129.hp1 NA18950.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0012others(2): Show | a0001c0001t0002g0371a0001c0001t0003g0121a0001c0001t0003g0123others(4): Show | 7 | 416 | 0.0168 | 0 | c.797 others(5): Show |
FLYWCH1 | ENSG00000059122.17 | transcript | ENST00000253928.14 | protein_coding | 4/9 | chr16 | TogoVar | ||||||
FLYWCH1_chr16_2906931_2956208 | 2933711 | C | T | splice_region_variant others(1): Show |
LOW | HG02630.hp2 HG02965.hp2 |
a0001 | a0001c0011 | a0001c0011t0008a0001c0011t0091 | a0001c0011t0008g0300a0001c0011t0091g0224 | 2 | 416 | 0.0048 | 0 | c.125 others(6): Show |
FLYWCH1 | ENSG00000059122.17 | transcript | ENST00000253928.14 | protein_coding | 5/9 | chr16 | TogoVar | ||||||
FLYWCH1_chr16_2906931_2956208 | 2937073 | G | GCTCTGAG others(35): Show |
splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(206): Show |
a0001a0002a0004others(9): Show | a0001c0001a0001c0002a0001c0003others(21): Show | a0001c0001t0004a0001c0001t0011a0001c0001t0013others(81): Show | a0001c0001t0004g0002a0001c0001t0004g0011a0001c0001t0004g0264others(199): Show | 209 | 416 | 0.5024 | 42 | c.151 others(56): Show |
FLYWCH1 | ENSG00000059122.17 | transcript | ENST00000253928.14 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
FLYWCH1_chr16_2906931_2956208 | 2937094 | T | TGCTCCTC others(35): Show |
splice_region_variant others(1): Show |
LOW | HG00558.hp2 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0369 | 1 | 416 | 0.0024 | 42 | c.151 others(55): Show |
FLYWCH1 | ENSG00000059122.17 | transcript | ENST00000253928.14 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
FLYWCH1_chr16_2906931_2956208 | 2940029 | C | T | splice_region_variant others(1): Show |
LOW | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0359 | 1 | 416 | 0.0024 | 0 | c.205 others(6): Show |
FLYWCH1 | ENSG00000059122.17 | transcript | ENST00000253928.14 | protein_coding | 8/9 | chr16 | TogoVar | ||||||
FMN1_chr15_32760544_33199714 | 32804330 | T | C | missense_variant others(1): Show |
MODERATE | HG00408.hp2 | a0044 | a0044c0072 | a0044c0072t0010 | a0044c0072t0010g0048 | 1 | 196 | 0.0051 | 0 | c.393 others(4): Show |
p.Lys others(7): Show |
FMN1 | ENSG00000248905.10 | transcript | ENST00000616417.5 | protein_coding | 18/21 | 4416/13511 | 3931/4260 | 1311/1419 | chr15 | TogoVar | ||
FMN1_chr15_32760544_33199714 | 33088799 | A | T | missense_variant others(1): Show |
MODERATE | HG00423.hp2 HG00639.hp1 HG00741.hp1 others(27): Show |
a0003a0010a0015others(6): Show | a0003c0004a0003c0007a0003c0081others(13): Show | a0003c0004t0001a0003c0004t0014a0003c0004t0042others(24): Show | a0003c0004t0001g0094a0003c0004t0001g0195a0003c0004t0014g0055others(27): Show | 30 | 196 | 0.1531 | 0 | c.204 others(4): Show |
p.His others(6): Show |
FMN1 | ENSG00000248905.10 | transcript | ENST00000616417.5 | protein_coding | 5/21 | 2528/13511 | 2043/4260 | 681/1419 | chr15 | TogoVar | ||
FMN1_chr15_32760544_33199714 | 33180268 | T | TA | splice_region_variant others(1): Show |
LOW | HG00408.hp1 HG01070.hp1 HG01070.hp2 others(53): Show |
a0001a0002a0005others(22): Show | a0001c0001a0001c0002a0001c0014others(35): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0023others(50): Show | a0001c0001t0001g0066a0001c0001t0001g0171a0001c0001t0002g0065others(53): Show | 56 | 196 | 0.2857 | 1 | c.-19 others(7): Show |
FMN1 | ENSG00000248905.10 | transcript | ENST00000616417.5 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
FMN2_chr1_240086883_240480187 | 240123353 | G | A | splice_region_variant others(1): Show |
LOW | HG02809.hp2 | a0002 | a0002c0127 | a0002c0127t0001 | a0002c0127t0001g0137 | 1 | 174 | 0.0058 | 0 | c.178 others(6): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 2/17 | chr1 | TogoVar | ||||||
FMNL1_chr17_45216885_45252318 | 45234208 | G | A | splice_region_variant others(1): Show |
LOW | HG02109.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0057 | 1 | 384 | 0.0026 | 0 | c.614 others(5): Show |
FMNL1 | ENSG00000184922.15 | transcript | ENST00000331495.8 | protein_coding | 6/26 | chr17 | TogoVar | ||||||
FMNL1_chr17_45216885_45252318 | 45237273 | C | T | splice_region_variant others(1): Show |
LOW | HG00544.hp1 HG00673.hp1 HG01106.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0023a0001c0001t0001g0100a0001c0001t0001g0101others(3): Show | 7 | 384 | 0.0182 | 0 | c.724 others(5): Show |
FMNL1 | ENSG00000184922.15 | transcript | ENST00000331495.8 | protein_coding | 7/26 | chr17 | TogoVar | ||||||
FMNL1_chr17_45216885_45252318 | 45245249 | C | T | splice_region_variant others(1): Show |
LOW | HG02109.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0057 | 1 | 384 | 0.0026 | 0 | c.272 others(6): Show |
FMNL1 | ENSG00000184922.15 | transcript | ENST00000331495.8 | protein_coding | 21/26 | chr17 | TogoVar | ||||||
FMNL1_chr17_45216885_45252318 | 45245421 | G | A | splice_region_variant others(1): Show |
LOW | HG01109.hp1 HG02809.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0162a0002c0003t0001g0163 | 2 | 384 | 0.0052 | 0 | c.289 others(6): Show |
FMNL1 | ENSG00000184922.15 | transcript | ENST00000331495.8 | protein_coding | 22/26 | chr17 | TogoVar | ||||||
FMNL1_chr17_45216885_45252318 | 45246206 | C | A | splice_region_variant others(1): Show |
LOW | NA19065.hp2 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0125 | 1 | 384 | 0.0026 | 0 | c.309 others(6): Show |
FMNL1 | ENSG00000184922.15 | transcript | ENST00000331495.8 | protein_coding | 24/26 | chr17 | TogoVar | ||||||
FMNL2_chr2_152330174_152654826 | 152521945 | T | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00438.hp1 others(138): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0010others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | a0001c0001t0001g0003a0001c0001t0001g0013a0001c0001t0001g0023others(138): Show | 141 | 200 | 0.7050 | 0 | c.120 others(3): Show |
p.Asn others(5): Show |
FMNL2 | ENSG00000157827.20 | transcript | ENST00000288670.14 | protein_coding | 2/26 | 550/5630 | 120/3279 | 40/1092 | chr2 | TogoVar | ||
FMNL2_chr2_152330174_152654826 | 152558730 | T | TC | splice_region_variant others(1): Show |
LOW | HG00639.hp1 HG00639.hp2 HG01123.hp1 others(54): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0005others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(36): Show | a0001c0001t0001g0050a0001c0001t0002g0006a0001c0001t0011g0028others(54): Show | 57 | 200 | 0.2850 | 1 | c.360 others(6): Show |
FMNL2 | ENSG00000157827.20 | transcript | ENST00000288670.14 | protein_coding | 4/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
FMNL2_chr2_152330174_152654826 | 152558823 | C | T | missense_variant others(1): Show |
MODERATE | NA19009.hp2 | a0009 | a0009c0037 | a0009c0037t0002 | a0009c0037t0002g0010 | 1 | 200 | 0.0050 | 0 | c.443 others(3): Show |
p.Thr others(6): Show |
FMNL2 | ENSG00000157827.20 | transcript | ENST00000288670.14 | protein_coding | 5/26 | 873/5630 | 443/3279 | 148/1092 | chr2 | TogoVar | ||
FMNL2_chr2_152330174_152654826 | 152636588 | C | G | missense_variant others(1): Show |
MODERATE | HG02922.hp2 HG02976.hp1 |
a0007 | a0007c0029a0007c0039 | a0007c0029t0001a0007c0039t0001 | a0007c0029t0001g0103a0007c0039t0001g0097 | 2 | 200 | 0.0100 | 0 | c.284 others(4): Show |
p.Gln others(6): Show |
FMNL2 | ENSG00000157827.20 | transcript | ENST00000288670.14 | protein_coding | 22/26 | 3272/5630 | 2842/3279 | 948/1092 | chr2 | TogoVar | ||
FMO1_chr1_171243494_171290961 | 171258077 | T | C | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00323.hp1 HG00408.hp2 others(165): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0002c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0199a0001c0001t0001g0247a0001c0001t0003g0001others(150): Show | 168 | 312 | 0.5385 | 0 | c.-6- others(4): Show |
FMO1 | ENSG00000010932.17 | transcript | ENST00000617670.6 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
FMO3_chr1_171085905_171122819 | 171114009 | T | C | missense_variant others(1): Show |
MODERATE | HG01884.hp1 HG02055.hp2 HG02257.hp2 others(2): Show |
a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0186a0006c0009t0001g0213a0006c0009t0001g0214others(2): Show | 5 | 404 | 0.0124 | 0 | c.830 others(3): Show |
p.Val others(6): Show |
FMO3 | ENSG00000007933.13 | transcript | ENST00000367755.9 | protein_coding | 7/9 | 913/2059 | 830/1599 | 277/532 | chr1 | TogoVar | ||
FMO4_chr1_171309183_171347084 | 171316331 | T | A | splice_region_variant others(1): Show |
LOW | NA18963.hp1 NA19090.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108a0001c0001t0001g0109 | 2 | 386 | 0.0052 | 0 | c.-9+ others(4): Show |
FMO4 | ENSG00000076258.10 | transcript | ENST00000367749.4 | protein_coding | 2/9 | chr1 | TogoVar | ||||||
FMO5_chr1_147181261_147230339 | 147189008 | GCTCATGC others(9568): Show |
G | exon_loss_variant others(4): Show |
HIGH | HG02451.hp2 HG03225.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0026 | 2 | 406 | 0.0049 | -9575 | c.118 others(19): Show |
FMO5 | ENSG00000131781.13 | transcript | ENST00000254090.9 | protein_coding | 8/9 | chr1 | TogoVar | ||||||
FMR1NB_chrX_147976337_148031665 | 148026496 | C | T | splice_region_variant others(1): Show |
LOW | NA18947.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0181 | 1 | 275 | 0.0036 | 0 | c.*14 others(5): Show |
FMR1NB | ENSG00000176988.9 | transcript | ENST00000370467.8 | protein_coding | 5/5 | chrX | TogoVar | ||||||
FMR1_chrX_147906919_147956125 | 147925532 | A | C | splice_region_variant others(1): Show |
LOW | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0160 | 1 | 304 | 0.0033 | 0 | c.105 others(5): Show |
FMR1 | ENSG00000102081.16 | transcript | ENST00000370475.9 | protein_coding | 2/16 | chrX | TogoVar | ||||||
FMR1_chrX_147906919_147956125 | 147937604 | A | AG | splice_region_variant others(1): Show |
LOW | NA19075.hp1 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0071 | 1 | 304 | 0.0033 | 1 | c.112 others(7): Show |
FMR1 | ENSG00000102081.16 | transcript | ENST00000370475.9 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
FMR1_chrX_147906919_147956125 | 147940658 | TA | T | frameshift_variant others(1): Show |
HIGH | NA19075.hp1 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0071 | 1 | 304 | 0.0033 | -1 | c.127 others(5): Show |
p.Lys others(5): Show |
FMR1 | ENSG00000102081.16 | transcript | ENST00000370475.9 | protein_coding | 13/17 | 1535/4441 | 1274/1899 | 425/632 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
FMR1_chrX_147906919_147956125 | 147945624 | C | A | splice_region_variant others(1): Show |
LOW | HG02109.hp2 HG02145.hp1 HG02258.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0060a0001c0001t0065 | a0001c0001t0008g0170a0001c0001t0008g0175a0001c0001t0008g0176others(4): Show | 7 | 304 | 0.0230 | 0 | c.173 others(6): Show |
FMR1 | ENSG00000102081.16 | transcript | ENST00000370475.9 | protein_coding | 16/16 | chrX | TogoVar | ||||||
FN1_chr2_215355865_215441068 | 215397677 | T | C | splice_region_variant others(1): Show |
LOW | HG02965.hp2 | a0006 | a0006c0024 | a0006c0024t0001 | a0006c0024t0001g0061 | 1 | 240 | 0.0042 | 0 | c.351 others(6): Show |
FN1 | ENSG00000115414.21 | transcript | ENST00000354785.11 | protein_coding | 22/45 | chr2 | TogoVar | ||||||
FN1_chr2_215355865_215441068 | 215419235 | T | A | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00280.hp2 HG00609.hp1 others(88): Show |
a0001a0002a0004others(9): Show | a0001c0001a0001c0005a0001c0006others(26): Show | a0001c0001t0001a0001c0005t0001a0001c0006t0001others(26): Show | a0001c0001t0001g0002a0001c0001t0001g0062a0001c0001t0001g0149others(87): Show | 91 | 240 | 0.3792 | 0 | c.181 others(6): Show |
FN1 | ENSG00000115414.21 | transcript | ENST00000354785.11 | protein_coding | 12/45 | chr2 | TogoVar | ||||||
FN1_chr2_215355865_215441068 | 215420807 | T | C | splice_region_variant others(1): Show |
LOW | HG02165.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0205 | 1 | 240 | 0.0042 | 0 | c.154 others(6): Show |
FN1 | ENSG00000115414.21 | transcript | ENST00000354785.11 | protein_coding | 10/45 | chr2 | TogoVar | ||||||
FN1_chr2_215355865_215441068 | 215434827 | G | A | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00280.hp2 HG00609.hp2 others(91): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0009others(24): Show | a0001c0001t0001a0001c0005t0001a0001c0009t0001others(26): Show | a0001c0001t0001g0002a0001c0001t0001g0062a0001c0001t0001g0149others(90): Show | 94 | 240 | 0.3917 | 0 | c.149 others(5): Show |
FN1 | ENSG00000115414.21 | transcript | ENST00000354785.11 | protein_coding | 1/45 | chr2 | TogoVar | ||||||
FN1_chr2_215355865_215441068 | 215434828 | C | A | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00280.hp2 HG00609.hp2 others(91): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0009others(24): Show | a0001c0001t0001a0001c0005t0001a0001c0009t0001others(26): Show | a0001c0001t0001g0002a0001c0001t0001g0062a0001c0001t0001g0149others(90): Show | 94 | 240 | 0.3917 | 0 | c.149 others(5): Show |
FN1 | ENSG00000115414.21 | transcript | ENST00000354785.11 | protein_coding | 1/45 | chr2 | TogoVar | ||||||
FN3KRP_chr17_82711706_82733013 | 82722884 | C | A | missense_variant others(1): Show |
MODERATE | NA18994.hp2 NA19063.hp2 NA19068.hp1 others(1): Show |
a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0005 | 4 | 426 | 0.0094 | 0 | c.466 others(3): Show |
p.Gln others(6): Show |
FN3KRP | ENSG00000141560.15 | transcript | ENST00000269373.11 | protein_coding | 4/6 | 516/1822 | 466/930 | 156/309 | chr17 | TogoVar | ||
FN3K_chr17_82730615_82756196 | 82748843 | CTTG | C | splice_region_variant others(1): Show |
LOW | HG00280.hp2 HG00733.hp1 HG00738.hp1 others(71): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(9): Show | a0001c0001t0001g0119a0001c0001t0001g0122a0001c0001t0001g0130others(58): Show | 74 | 402 | 0.1841 | -3 | c.469 others(14): Show |
FN3K | ENSG00000167363.14 | transcript | ENST00000300784.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
FNBP1L_chr1_93443118_93559661 | 93524262 | A | G | missense_variant others(1): Show |
MODERATE | NA18961.hp1 NA19062.hp1 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0301a0002c0004t0001g0303 | 2 | 324 | 0.0062 | 0 | c.344 others(3): Show |
p.His others(6): Show |
FNBP1L | ENSG00000137942.18 | transcript | ENST00000271234.13 | protein_coding | 5/17 | 508/4227 | 344/1818 | 115/605 | chr1 | TogoVar | ||
FNBP1L_chr1_93443118_93559661 | 93530747 | G | T | splice_region_variant others(1): Show |
LOW | HG03831.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0314a0001c0001t0007g0315 | 2 | 324 | 0.0062 | 0 | c.511 others(5): Show |
FNBP1L | ENSG00000137942.18 | transcript | ENST00000271234.13 | protein_coding | 6/16 | chr1 | TogoVar | ||||||
FNBP1_chr9_129882187_130048189 | 129900546 | G | C | missense_variant others(1): Show |
MODERATE | HG02630.hp2 HG02886.hp1 HG02970.hp1 others(4): Show |
a0003 | a0003c0005a0003c0009 | a0003c0005t0008a0003c0005t0020a0003c0005t0021others(1): Show | a0003c0005t0008g0026a0003c0005t0008g0027a0003c0005t0008g0181others(4): Show | 7 | 212 | 0.0330 | 0 | c.143 others(4): Show |
p.Ala others(6): Show |
FNBP1 | ENSG00000187239.19 | transcript | ENST00000446176.7 | protein_coding | 14/17 | 1644/5420 | 1430/1854 | 477/617 | chr9 | TogoVar | ||
FNBP1_chr9_129882187_130048189 | 129958491 | A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00280.hp1 HG01106.hp2 others(35): Show |
a0001a0002a0004 | a0001c0004a0002c0003a0002c0006others(1): Show | a0001c0004t0001a0001c0004t0019a0001c0004t0025others(10): Show | a0001c0004t0001g0010a0001c0004t0001g0081a0001c0004t0001g0082others(35): Show | 38 | 212 | 0.1793 | 0 | c.408 others(3): Show |
p.Ser others(6): Show |
FNBP1 | ENSG00000187239.19 | transcript | ENST00000446176.7 | protein_coding | 5/17 | 622/5420 | 408/1854 | 136/617 | chr9 | TogoVar | ||
FNDC1_chr6_159164400_159277108 | 159199996 | A | G | missense_variant others(1): Show |
MODERATE | HG03492.hp1 | a0041 | a0041c0074 | a0041c0074t0001 | a0041c0074t0001g0079 | 1 | 306 | 0.0033 | 0 | c.305 others(3): Show |
p.Glu others(6): Show |
FNDC1 | ENSG00000164694.17 | transcript | ENST00000297267.14 | protein_coding | 3/23 | 502/6548 | 305/5685 | 102/1894 | chr6 | TogoVar | ||
FNDC1_chr6_159164400_159277108 | 159229816 | A | G | splice_region_variant others(1): Show |
LOW | HG03195.hp1 HG06807.hp2 NA19030.hp1 |
a0011 | a0011c0016 | a0011c0016t0002 | a0011c0016t0002g0167a0011c0016t0002g0169a0011c0016t0002g0182 | 3 | 306 | 0.0098 | 0 | c.118 others(4): Show |
p.Glu others(6): Show |
FNDC1 | ENSG00000164694.17 | transcript | ENST00000297267.14 | protein_coding | 10/23 | 1379/6548 | 1182/5685 | 394/1894 | chr6 | TogoVar | ||
FNDC1_chr6_159164400_159277108 | 159231878 | G | A | splice_region_variant others(1): Show |
LOW | HG02258.hp2 HG03041.hp1 NA18522.hp1 |
a0019a0023 | a0019c0030a0023c0046 | a0019c0030t0003a0023c0046t0002 | a0019c0030t0003g0030a0019c0030t0003g0031a0023c0046t0002g0231 | 3 | 306 | 0.0098 | 0 | c.137 others(6): Show |
FNDC1 | ENSG00000164694.17 | transcript | ENST00000297267.14 | protein_coding | 10/22 | chr6 | TogoVar | ||||||
FNDC1_chr6_159164400_159277108 | 159231884 | A | G | missense_variant others(1): Show |
MODERATE | HG01255.hp1 | a0040 | a0040c0073 | a0040c0073t0003 | a0040c0073t0003g0007 | 1 | 306 | 0.0033 | 0 | c.137 others(4): Show |
p.Ser others(6): Show |
FNDC1 | ENSG00000164694.17 | transcript | ENST00000297267.14 | protein_coding | 11/23 | 1569/6548 | 1372/5685 | 458/1894 | chr6 | TogoVar | ||
FNDC1_chr6_159164400_159277108 | 159234484 | T | C | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00639.hp1 HG01934.hp2 others(11): Show |
a0001a0003a0025others(2): Show | a0001c0005a0001c0006a0001c0010others(4): Show | a0001c0005t0001a0001c0006t0001a0001c0010t0003others(4): Show | a0001c0005t0001g0143a0001c0006t0001g0047a0001c0006t0001g0055others(11): Show | 14 | 306 | 0.0458 | 0 | c.396 others(6): Show |
FNDC1 | ENSG00000164694.17 | transcript | ENST00000297267.14 | protein_coding | 11/22 | chr6 | TogoVar | ||||||
FNDC3A_chr13_48970912_49214779 | 49075281 | T | C | splice_region_variant others(1): Show |
LOW | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271 | 1 | 292 | 0.0034 | 0 | c.100 others(5): Show |
FNDC3A | ENSG00000102531.16 | transcript | ENST00000492622.6 | protein_coding | 2/25 | chr13 | TogoVar | ||||||
FNDC4_chr2_27486883_27500200 | 27494708 | A | C | splice_region_variant others(1): Show |
LOW | HG01070.hp2 HG01175.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 3 | 312 | 0.0096 | 0 | c.-24 others(5): Show |
FNDC4 | ENSG00000115226.10 | transcript | ENST00000264703.4 | protein_coding | 1/6 | chr2 | TogoVar | ||||||
FNDC5_chr1_32857268_32875912 | 32864802 | G | C | splice_region_variant others(1): Show |
LOW | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 414 | 0.0024 | 0 | c.500 others(5): Show |
FNDC5 | ENSG00000160097.21 | transcript | ENST00000373471.9 | protein_coding | 4/5 | WARNING_TRANSCRIPT_NO_START_CODON | chr1 | TogoVar | |||||
FNDC7_chr1_108707908_108747749 | 108713513 | T | C | splice_region_variant others(1): Show |
LOW | HG00423.hp2 HG00544.hp1 HG00673.hp2 others(45): Show |
a0001a0002a0003others(4): Show | a0001c0006a0001c0011a0002c0021others(7): Show | a0001c0006t0001a0001c0006t0002a0001c0011t0001others(8): Show | a0001c0006t0001g0002a0001c0006t0001g0028a0001c0006t0001g0030others(40): Show | 48 | 376 | 0.1277 | 0 | c.66T others(2): Show |
p.Val others(5): Show |
FNDC7 | ENSG00000143107.10 | transcript | ENST00000370017.9 | protein_coding | 2/13 | 92/3090 | 66/2202 | 22/733 | chr1 | TogoVar |