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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EXT2_chr11_44090678_44256962 | 44095859 | G | T | splice_region_variant others(1): Show |
LOW | HG00323.hp1 HG01168.hp1 HG01884.hp1 others(12): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(5): Show | a0001c0001t0001g0328a0001c0001t0004g0327a0001c0001t0007g0321others(12): Show | 15 | 334 | 0.0449 | 0 | c.-31 others(5): Show |
EXT2 | ENSG00000151348.16 | transcript | ENST00000533608.7 | protein_coding | 1/13 | chr11 | TogoVar | ||||||
EXTL3_chr8_28696501_28760599 | 28713449 | T | TA | splice_region_variant others(1): Show |
LOW | HG02280.hp1 HG02622.hp2 HG02717.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0017a0001c0001t0077 | a0001c0001t0016g0184a0001c0001t0017g0008a0001c0001t0017g0185others(1): Show | 5 | 380 | 0.0132 | 1 | c.-56 others(7): Show |
EXTL3 | ENSG00000012232.10 | transcript | ENST00000220562.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
EYA1_chr8_71192433_71367069 | 71199423 | G | A | splice_region_variant others(1): Show |
LOW | HG01099.hp1 HG03490.hp2 |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0001a0004c0009t0001 | a0001c0001t0001g0221a0004c0009t0001g0012 | 2 | 232 | 0.0086 | 0 | c.169 others(6): Show |
EYA1 | ENSG00000104313.20 | transcript | ENST00000340726.8 | protein_coding | 17/17 | chr8 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 46990126 | T | C | splice_region_variant others(1): Show |
LOW | NA19240.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0236 | 1 | 238 | 0.0042 | 0 | c.109 others(5): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 2/15 | chr20 | TogoVar | ||||||
EYA3_chr1_27965344_28093610 | 27989811 | C | A | missense_variant others(1): Show |
MODERATE | HG01255.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0127 | 1 | 392 | 0.0026 | 0 | c.130 others(4): Show |
p.Gly others(6): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 15/18 | 1459/5999 | 1304/1722 | 435/573 | chr1 | TogoVar | ||
EYS_chr6_63714980_65712226 | 64307084 | TGA | T | splice_region_variant others(1): Show |
LOW | HG01169.hp1 HG01169.hp2 HG02451.hp1 others(11): Show |
a0001a0003a0005others(9): Show | a0001c0009a0001c0012a0003c0002others(11): Show | a0001c0009t0001a0001c0012t0002a0003c0002t0002others(11): Show | a0001c0009t0001g0012a0001c0012t0002g0021a0003c0002t0002g0019others(11): Show | 14 | 24 | 0.5833 | -2 | c.607 others(15): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 29/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 65353620 | G | A | splice_region_variant others(1): Show |
LOW | HG01169.hp1 HG01169.hp2 HG02451.hp1 others(12): Show |
a0001a0003a0004others(12): Show | a0001c0012a0003c0019a0004c0017others(12): Show | a0001c0012t0002a0003c0019t0001a0004c0017t0001others(12): Show | a0001c0012t0002g0021a0003c0019t0001g0006a0004c0017t0001g0002others(12): Show | 15 | 24 | 0.6250 | 0 | c.130 others(6): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 8/42 | chr6 | TogoVar | ||||||
EZH1_chr17_42695275_42750040 | 42704681 | G | A | splice_region_variant others(1): Show |
LOW | NA18972.hp2 NA19088.hp2 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0021a0001c0003t0002g0068 | 2 | 334 | 0.0060 | 0 | c.193 others(4): Show |
p.Leu others(6): Show |
EZH1 | ENSG00000108799.13 | transcript | ENST00000428826.7 | protein_coding | 18/21 | 2070/4633 | 1938/2244 | 646/747 | chr17 | TogoVar | ||
EZH1_chr17_42695275_42750040 | 42706002 | C | T | splice_region_variant others(1): Show |
LOW | HG01109.hp2 HG02055.hp2 HG02572.hp1 others(9): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0005a0001c0001t0012a0001c0005t0005 | a0001c0001t0005g0129a0001c0001t0005g0130a0001c0001t0005g0131others(9): Show | 12 | 334 | 0.0359 | 0 | c.183 others(6): Show |
EZH1 | ENSG00000108799.13 | transcript | ENST00000428826.7 | protein_coding | 16/20 | chr17 | TogoVar | ||||||
EZH1_chr17_42695275_42750040 | 42719098 | T | C | splice_region_variant others(1): Show |
LOW | HG01884.hp2 HG02258.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0145a0001c0001t0011g0146 | 2 | 334 | 0.0060 | 0 | c.767 others(5): Show |
EZH1 | ENSG00000108799.13 | transcript | ENST00000428826.7 | protein_coding | 8/20 | chr17 | TogoVar | ||||||
EZH2_chr7_148802383_148889291 | 148809304 | A | C | splice_region_variant others(1): Show |
LOW | HG00280.hp2 HG01070.hp1 HG01070.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004a0001c0001t0001g0046a0001c0001t0001g0114others(27): Show | 30 | 380 | 0.0790 | 0 | c.211 others(6): Show |
EZH2 | ENSG00000106462.12 | transcript | ENST00000320356.7 | protein_coding | 18/19 | chr7 | TogoVar | ||||||
EZH2_chr7_148802383_148889291 | 148810334 | A | G | splice_region_variant others(1): Show |
LOW | HG02970.hp1 HG02976.hp2 |
a0001 | a0001c0007a0001c0009 | a0001c0007t0001a0001c0009t0001 | a0001c0007t0001g0376a0001c0009t0001g0011 | 2 | 380 | 0.0053 | 0 | c.202 others(4): Show |
p.Asn others(6): Show |
EZH2 | ENSG00000106462.12 | transcript | ENST00000320356.7 | protein_coding | 17/20 | 2163/2654 | 2028/2256 | 676/751 | chr7 | TogoVar | ||
EZH2_chr7_148802383_148889291 | 148815038 | G | A | splice_region_variant others(1): Show |
LOW | HG01257.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0346 | 1 | 380 | 0.0026 | 0 | c.154 others(4): Show |
p.Asp others(6): Show |
EZH2 | ENSG00000106462.12 | transcript | ENST00000320356.7 | protein_coding | 14/20 | 1683/2654 | 1548/2256 | 516/751 | chr7 | TogoVar | ||
EZH2_chr7_148802383_148889291 | 148818122 | G | A | splice_region_variant others(1): Show |
LOW | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 380 | 0.0026 | 0 | c.100 others(6): Show |
EZH2 | ENSG00000106462.12 | transcript | ENST00000320356.7 | protein_coding | 9/19 | chr7 | TogoVar | ||||||
EZH2_chr7_148802383_148889291 | 148828887 | C | T | splice_region_variant others(1): Show |
LOW | HG02615.hp2 HG03130.hp1 HG03453.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0248a0001c0001t0001g0249a0001c0001t0001g0250others(2): Show | 5 | 380 | 0.0132 | 0 | c.485 others(5): Show |
EZH2 | ENSG00000106462.12 | transcript | ENST00000320356.7 | protein_coding | 5/19 | chr7 | TogoVar | ||||||
EZH2_chr7_148802383_148889291 | 148846601 | TA | T | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(280): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(278): Show | 283 | 380 | 0.7447 | -1 | c.118 others(6): Show |
EZH2 | ENSG00000106462.12 | transcript | ENST00000320356.7 | protein_coding | 2/19 | chr7 | TogoVar | ||||||
EZR_chr6_158760748_158824368 | 158767517 | G | A | splice_region_variant others(1): Show |
LOW | HG00323.hp1 HG00639.hp1 HG01071.hp2 others(25): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0155a0001c0001t0003g0001a0001c0001t0003g0013others(24): Show | 28 | 312 | 0.0897 | 0 | c.134 others(6): Show |
EZR | ENSG00000092820.19 | transcript | ENST00000367075.4 | protein_coding | 12/13 | chr6 | TogoVar | ||||||
EZR_chr6_158760748_158824368 | 158770756 | C | T | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(110): Show |
a0001a0005a0006 | a0001c0001a0001c0005a0005c0008others(1): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0012others(5): Show | a0001c0001t0002g0004a0001c0001t0002g0005a0001c0001t0002g0006others(105): Show | 113 | 312 | 0.3622 | 0 | c.109 others(6): Show |
EZR | ENSG00000092820.19 | transcript | ENST00000367075.4 | protein_coding | 10/13 | chr6 | TogoVar | ||||||
EZR_chr6_158760748_158824368 | 158784636 | G | A | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(135): Show |
a0001a0005a0006 | a0001c0001a0001c0005a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0285a0001c0001t0001g0286a0001c0001t0002g0004others(130): Show | 138 | 312 | 0.4423 | 0 | c.551 others(5): Show |
EZR | ENSG00000092820.19 | transcript | ENST00000367075.4 | protein_coding | 6/13 | chr6 | TogoVar | ||||||
EZR_chr6_158760748_158824368 | 158819309 | C | T | splice_region_variant others(1): Show |
LOW | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0009 | 1 | 312 | 0.0032 | 0 | c.-74 others(5): Show |
EZR | ENSG00000092820.19 | transcript | ENST00000367075.4 | protein_coding | 1/13 | chr6 | TogoVar | ||||||
F11R_chr1_160990211_161026152 | 161000140 | A | C | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(85): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0005 | a0001c0001t0002a0001c0001t0005a0001c0001t0014others(6): Show | a0001c0001t0002g0002a0001c0001t0002g0004a0001c0001t0002g0006others(59): Show | 88 | 392 | 0.2245 | 0 | c.591 others(5): Show |
F11R | ENSG00000158769.19 | transcript | ENST00000368026.11 | protein_coding | 5/9 | chr1 | TogoVar | ||||||
F11R_chr1_160990211_161026152 | 161001356 | A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(308): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(31): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(241): Show | 311 | 392 | 0.7934 | 0 | c.65- others(4): Show |
F11R | ENSG00000158769.19 | transcript | ENST00000368026.11 | protein_coding | 1/9 | chr1 | TogoVar | ||||||
F12_chr5_177397141_177414564 | 177404491 | C | T | splice_region_variant others(1): Show |
LOW | HG02145.hp2 HG02257.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102a0001c0001t0001g0108 | 2 | 454 | 0.0044 | 0 | c.800 others(5): Show |
F12 | ENSG00000131187.11 | transcript | ENST00000253496.4 | protein_coding | 8/13 | chr5 | TogoVar | ||||||
F13A1_chr6_6139084_6325662 | 6318688 | G | GA | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(221): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0006a0001c0009others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(49): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(220): Show | 224 | 292 | 0.7671 | 1 | c.-18 others(6): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 1/14 | chr6 | TogoVar | ||||||
F13A1_chr6_6139084_6325662 | 6318688 | G | GAAA | splice_region_variant others(1): Show |
LOW | HG00408.hp2 HG00423.hp2 HG00438.hp1 others(10): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0141a0001c0001t0001g0147a0001c0001t0001g0149others(10): Show | 13 | 292 | 0.0445 | 3 | c.-18 others(14): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 1/14 | chr6 | TogoVar | ||||||
F13B_chr1_197033741_197072260 | 197057202 | A | G | splice_region_variant others(1): Show |
LOW | HG02523.hp2 NA18612.hp1 NA18945.hp2 others(3): Show |
a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0009 | 6 | 342 | 0.0175 | 0 | c.986 others(5): Show |
F13B | ENSG00000143278.5 | transcript | ENST00000367412.2 | protein_coding | 6/11 | chr1 | TogoVar | ||||||
F13B_chr1_197033741_197072260 | 197057471 | G | T | splice_region_variant others(1): Show |
LOW | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 342 | 0.0029 | 0 | c.806 others(5): Show |
F13B | ENSG00000143278.5 | transcript | ENST00000367412.2 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
F13B_chr1_197033741_197072260 | 197060892 | A | G | splice_region_variant others(1): Show |
LOW | NA18952.hp2 NA18953.hp2 NA19011.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 3 | 342 | 0.0088 | 0 | c.628 others(5): Show |
F13B | ENSG00000143278.5 | transcript | ENST00000367412.2 | protein_coding | 4/11 | chr1 | TogoVar | ||||||
F2RL1_chr5_76814030_76840315 | 76832686 | A | G | splice_region_variant others(1): Show |
LOW | NA21309.hp2 | a0003 | a0003c0004 | a0003c0004t0007 | a0003c0004t0007g0221 | 1 | 420 | 0.0024 | 0 | c.83- others(4): Show |
F2RL1 | ENSG00000164251.5 | transcript | ENST00000296677.5 | protein_coding | 1/1 | chr5 | TogoVar | ||||||
F2_chr11_46714213_46744506 | 46719321 | G | A | splice_region_variant others(1): Show |
LOW | HG02723.hp1 HG02818.hp1 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020a0001c0001t0001g0041a0001c0001t0001g0042 | 4 | 350 | 0.0114 | 0 | c.79+ others(4): Show |
F2 | ENSG00000180210.15 | transcript | ENST00000311907.10 | protein_coding | 1/13 | chr11 | TogoVar | ||||||
F2_chr11_46714213_46744506 | 46723375 | G | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(150): Show |
a0001 | a0001c0001a0001c0007a0001c0009others(1): Show | a0001c0001t0001a0001c0007t0001a0001c0009t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(91): Show | 153 | 350 | 0.4371 | 0 | c.423 others(5): Show |
F2 | ENSG00000180210.15 | transcript | ENST00000311907.10 | protein_coding | 5/13 | chr11 | TogoVar | ||||||
F2_chr11_46714213_46744506 | 46739504 | C | T | splice_region_variant | LOW | HG01109.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0045 | 1 | 350 | 0.0029 | 0 | c.*96 others(3): Show |
F2 | ENSG00000180210.15 | transcript | ENST00000311907.10 | protein_coding | 14/14 | chr11 | TogoVar | ||||||
F5_chr1_169506951_169591481 | 169559146 | G | A | splice_region_variant others(1): Show |
LOW | HG01168.hp1 HG02155.hp2 HG02896.hp1 others(4): Show |
a0001a0002a0004others(1): Show | a0001c0004a0002c0003a0004c0007others(1): Show | a0001c0004t0002a0002c0003t0001a0004c0007t0003others(1): Show | a0001c0004t0002g0023a0001c0004t0002g0024a0002c0003t0001g0019others(4): Show | 7 | 306 | 0.0229 | 0 | c.730 others(5): Show |
F5 | ENSG00000198734.12 | transcript | ENST00000367797.9 | protein_coding | 5/24 | chr1 | TogoVar | ||||||
F7_chr13_113100791_113125685 | 113105909 | C | T | splice_region_variant others(1): Show |
LOW | HG02809.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243a0001c0001t0001g0244 | 2 | 400 | 0.0050 | 0 | c.64+ others(4): Show |
F7 | ENSG00000057593.14 | transcript | ENST00000346342.8 | protein_coding | 1/7 | chr13 | TogoVar | ||||||
F7_chr13_113100791_113125685 | 113117585 | TCGCGGTG others(30): Show |
T | splice_region_variant others(1): Show |
LOW | HG01975.hp1 | a0006 | a0006c0008 | a0006c0008t0002 | a0006c0008t0002g0170 | 1 | 400 | 0.0025 | -37 | c.739 others(49): Show |
F7 | ENSG00000057593.14 | transcript | ENST00000346342.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
F8_chrX_154830792_155027723 | 154906576 | GGA | G | splice_region_variant others(1): Show |
LOW | NA18985.hp1 | a0009 | a0009c0013 | a0009c0013t0001 | a0009c0013t0001g0033 | 1 | 233 | 0.0043 | -2 | c.522 others(15): Show |
F8 | ENSG00000185010.15 | transcript | ENST00000360256.9 | protein_coding | 14/25 | chrX | TogoVar | ||||||
F9_chrX_139525739_139568459 | 139541196 | A | G | splice_region_variant others(1): Show |
LOW | HG00639.hp1 HG01261.hp1 HG02257.hp2 others(12): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(3): Show | a0001c0001t0001g0091a0001c0001t0001g0094a0001c0001t0001g0097others(10): Show | 15 | 263 | 0.0570 | 0 | c.391 others(5): Show |
F9 | ENSG00000101981.12 | transcript | ENST00000218099.7 | protein_coding | 4/7 | chrX | TogoVar | ||||||
FA2H_chr16_74707969_74779820 | 74716339 | A | G | splice_region_variant others(1): Show |
LOW | HG01069.hp1 HG01069.hp2 HG01071.hp2 others(40): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0005others(4): Show | a0001c0002t0003a0001c0002t0015a0001c0004t0001others(18): Show | a0001c0002t0003g0123a0001c0002t0003g0124a0001c0002t0003g0127others(38): Show | 43 | 388 | 0.1108 | 0 | c.103 others(6): Show |
FA2H | ENSG00000103089.9 | transcript | ENST00000219368.8 | protein_coding | 6/6 | chr16 | TogoVar | ||||||
FA2H_chr16_74707969_74779820 | 74718989 | T | G | missense_variant others(1): Show |
MODERATE | HG01516.hp1 | a0004 | a0004c0015 | a0004c0015t0001 | a0004c0015t0001g0302 | 1 | 388 | 0.0026 | 0 | c.785 others(3): Show |
p.Lys others(6): Show |
FA2H | ENSG00000103089.9 | transcript | ENST00000219368.8 | protein_coding | 5/7 | 850/2405 | 785/1119 | 262/372 | chr16 | TogoVar | ||
FA2H_chr16_74707969_74779820 | 74719167 | G | C | splice_region_variant others(1): Show |
LOW | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0126 | 1 | 388 | 0.0026 | 0 | c.614 others(5): Show |
FA2H | ENSG00000103089.9 | transcript | ENST00000219368.8 | protein_coding | 4/6 | chr16 | TogoVar | ||||||
FAAH2_chrX_57281706_57494193 | 57292580 | G | GGT | splice_region_variant others(1): Show |
LOW | NA18974.hp1 | a0007 | a0007c0008 | a0007c0008t0004 | a0007c0008t0004g0117 | 1 | 282 | 0.0036 | 2 | c.275 others(13): Show |
FAAH2 | ENSG00000165591.7 | transcript | ENST00000374900.5 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
FAAH_chr1_46389317_46418845 | 46405367 | C | T | splice_region_variant others(1): Show |
LOW | HG03834.hp2 NA18969.hp1 NA19009.hp2 others(1): Show |
a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0020a0003c0004t0002g0045a0003c0004t0002g0076 | 4 | 370 | 0.0108 | 0 | c.445 others(5): Show |
FAAH | ENSG00000117480.16 | transcript | ENST00000243167.9 | protein_coding | 3/14 | chr1 | TogoVar | ||||||
FAAH_chr1_46389317_46418845 | 46410816 | G | C | splice_region_variant others(1): Show |
LOW | HG00544.hp2 HG01884.hp2 HG03834.hp2 others(4): Show |
a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0018a0003c0004t0002g0020a0003c0004t0002g0045others(2): Show | 7 | 370 | 0.0189 | 0 | c.127 others(4): Show |
p.Leu others(6): Show |
FAAH | ENSG00000117480.16 | transcript | ENST00000243167.9 | protein_coding | 11/15 | 1310/2042 | 1278/1740 | 426/579 | chr1 | TogoVar | ||
FAAH_chr1_46389317_46418845 | 46410857 | A | G | splice_region_variant others(1): Show |
LOW | HG00544.hp2 HG01884.hp2 HG03834.hp2 others(4): Show |
a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0018a0003c0004t0002g0020a0003c0004t0002g0045others(2): Show | 7 | 370 | 0.0189 | 0 | c.131 others(6): Show |
FAAH | ENSG00000117480.16 | transcript | ENST00000243167.9 | protein_coding | 11/14 | chr1 | TogoVar | ||||||
FAAH_chr1_46389317_46418845 | 46411612 | T | G | splice_region_variant others(1): Show |
LOW | HG00544.hp2 HG01884.hp2 HG03834.hp2 others(4): Show |
a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0018a0003c0004t0002g0020a0003c0004t0002g0045others(2): Show | 7 | 370 | 0.0189 | 0 | c.131 others(4): Show |
p.Arg others(6): Show |
FAAH | ENSG00000117480.16 | transcript | ENST00000243167.9 | protein_coding | 12/15 | 1349/2042 | 1317/1740 | 439/579 | chr1 | TogoVar | ||
FAAH_chr1_46389317_46418845 | 46412138 | C | T | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00733.hp2 HG01256.hp2 others(14): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0003 | a0001c0003t0001g0007a0001c0003t0001g0014a0001c0003t0001g0085others(3): Show | 17 | 370 | 0.0460 | 0 | c.135 others(6): Show |
FAAH | ENSG00000117480.16 | transcript | ENST00000243167.9 | protein_coding | 12/14 | chr1 | TogoVar | ||||||
FAAH_chr1_46389317_46418845 | 46412258 | C | G | splice_region_variant others(1): Show |
LOW | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 370 | 0.0027 | 0 | c.146 others(6): Show |
FAAH | ENSG00000117480.16 | transcript | ENST00000243167.9 | protein_coding | 13/14 | chr1 | TogoVar | ||||||
FAAP100_chr17_81534891_81557353 | 81543996 | C | T | splice_region_variant others(1): Show |
LOW | HG02109.hp1 HG02451.hp1 NA19030.hp2 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0016 | a0002c0002t0002g0194a0002c0002t0002g0195a0002c0002t0016g0068 | 3 | 436 | 0.0069 | 0 | c.242 others(6): Show |
FAAP100 | ENSG00000185504.17 | transcript | ENST00000327787.13 | protein_coding | 7/8 | chr17 | TogoVar | ||||||
FAAP100_chr17_81534891_81557353 | 81552057 | G | A | splice_region_variant others(1): Show |
LOW | HG01891.hp2 HG02922.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0268a0001c0001t0001g0270a0001c0001t0006g0269 | 3 | 436 | 0.0069 | 0 | c.166 others(5): Show |
FAAP100 | ENSG00000185504.17 | transcript | ENST00000327787.13 | protein_coding | 1/8 | chr17 | TogoVar | ||||||
FAAP20_chr1_2184548_2199772 | 2194137 | G | A | splice_region_variant others(1): Show |
LOW | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 392 | 0.0026 | 0 | c.63- others(4): Show |
FAAP20 | ENSG00000162585.17 | transcript | ENST00000378546.9 | protein_coding | 1/3 | chr1 | TogoVar |