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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EBF1_chr5_158690920_159104916 | 158775783 | GACACAC | G | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(30): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(22): Show | a0001c0001t0002g0101a0001c0001t0003g0148a0001c0001t0004g0091others(30): Show | 33 | 196 | 0.1684 | -6 | c.103 others(25): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 10/15 | chr5 | TogoVar | ||||||
EBF1_chr5_158690920_159104916 | 158776309 | CGAGAGA | C | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp1 HG02258.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0033a0001c0001t0053others(2): Show | a0001c0001t0009g0073a0001c0001t0009g0080a0001c0001t0033g0003others(3): Show | 6 | 196 | 0.0306 | -6 | c.103 others(25): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 10/15 | chr5 | TogoVar | ||||||
EBF1_chr5_158690920_159104916 | 158803950 | CTGTGTG | C | intron_variant | MODIFIER | HG01891.hp1 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0049 | a0001c0001t0002g0121a0001c0001t0049g0044 | 2 | 196 | 0.0102 | -6 | c.779 others(23): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 8/15 | chr5 | TogoVar | ||||||
EBF1_chr5_158690920_159104916 | 158869578 | AACACAC | A | intron_variant | MODIFIER | HG00423.hp1 HG00642.hp2 HG00735.hp1 others(27): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0136a0001c0001t0002g0135a0001c0001t0003g0105others(27): Show | 30 | 196 | 0.1531 | -6 | c.555 others(25): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
EBF1_chr5_158690920_159104916 | 158956028 | ATGTGTG | A | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG00735.hp2 others(44): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(33): Show | a0001c0001t0001g0142a0001c0001t0002g0121a0001c0001t0002g0155others(44): Show | 47 | 196 | 0.2398 | -6 | c.555 others(27): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
EBF1_chr5_158690920_159104916 | 158978797 | TACACAC | T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00639.hp1 others(36): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(21): Show | a0001c0001t0001g0142a0001c0001t0002g0150a0001c0001t0006g0019others(36): Show | 39 | 196 | 0.1990 | -6 | c.554 others(25): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
EBF1_chr5_158690920_159104916 | 158983897 | AGTGTGT | A | intron_variant | MODIFIER | HG00408.hp2 HG02559.hp2 HG03486.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0001t0079a0001c0002t0062 | a0001c0001t0010g0082a0001c0001t0079g0149a0001c0002t0062g0054 | 3 | 196 | 0.0153 | -6 | c.554 others(25): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
EBF1_chr5_158690920_159104916 | 158992917 | CTTTTTT | C | intron_variant | MODIFIER | HG00423.hp1 HG00642.hp2 HG00735.hp1 others(34): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(30): Show | a0001c0001t0001g0147a0001c0001t0002g0121a0001c0001t0002g0167others(34): Show | 37 | 196 | 0.1888 | -6 | c.554 others(25): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
EBF1_chr5_158690920_159104916 | 159006647 | TAAAAAA | T | intron_variant | MODIFIER | HG00323.hp1 HG01261.hp1 HG02109.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0011a0001c0001t0015others(6): Show | a0001c0001t0008g0184a0001c0001t0011g0120a0001c0001t0015g0035others(7): Show | 10 | 196 | 0.0510 | -6 | c.554 others(25): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
EBF1_chr5_158690920_159104916 | 159029702 | CCTAACA | C | intron_variant | MODIFIER | HG01981.hp1 HG02145.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0023a0001c0001t0067 | a0001c0001t0008g0186a0001c0001t0023g0123a0001c0001t0067g0074 | 3 | 196 | 0.0153 | -6 | c.554 others(25): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
EBF1_chr5_158690920_159104916 | 159050152 | TTCTCTC | T | intron_variant | MODIFIER | HG02145.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0053 | a0001c0001t0015g0035a0001c0001t0053g0049 | 2 | 196 | 0.0102 | -6 | c.554 others(25): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
EBF1_chr5_158690920_159104916 | 159066630 | GACACAC | G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(42): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0010others(32): Show | a0001c0001t0002g0112a0001c0001t0003g0105a0001c0001t0003g0148others(42): Show | 45 | 196 | 0.2296 | -6 | c.554 others(23): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
EBF1_chr5_158690920_159104916 | 159099262 | AGCTGCC | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(183): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(103): Show | a0001c0001t0001g0107a0001c0001t0001g0116a0001c0001t0001g0127others(183): Show | 186 | 196 | 0.9490 | -6 | c.134 others(19): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 1/15 | chr5 | TogoVar | ||||||
EBF1_chr5_158690920_159104916 | 159099919 | GAAAAAA | G | upstream_gene_variant | MODIFIER | HG02523.hp2 HG02647.hp2 HG02818.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0009a0001c0001t0066others(5): Show | a0001c0001t0002g0150a0001c0001t0009g0073a0001c0001t0009g0080others(7): Show | 10 | 196 | 0.0510 | -6 | c.-44 others(15): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 4 | chr5 | TogoVar | ||||||
EBF2_chr8_25836725_26050413 | 25838188 | GCTCTCT | G | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG02040.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0034a0001c0002t0001a0001c0002t0003others(5): Show | a0001c0001t0034g0153a0001c0002t0001g0030a0001c0002t0001g0053others(9): Show | 12 | 220 | 0.0546 | -6 | c.*64 others(17): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 3536 | chr8 | TogoVar | ||||||
EBF2_chr8_25836725_26050413 | 25845339 | TGCCTCA | T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG01081.hp2 others(29): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(9): Show | a0001c0001t0001g0019a0001c0001t0001g0039a0001c0001t0001g0080others(29): Show | 32 | 220 | 0.1455 | -6 | c.169 others(23): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 15/15 | chr8 | TogoVar | ||||||
EBF2_chr8_25836725_26050413 | 25863008 | GATTATA | G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00597.hp1 others(52): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(7): Show | a0001c0001t0001g0032a0001c0001t0002g0011a0001c0001t0002g0016others(52): Show | 55 | 220 | 0.2500 | -6 | c.101 others(23): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 10/15 | chr8 | TogoVar | ||||||
EBF2_chr8_25836725_26050413 | 25864501 | AACACAC | A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00597.hp1 others(66): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0032a0001c0001t0001g0048a0001c0001t0001g0114others(66): Show | 69 | 220 | 0.3136 | -6 | c.101 others(25): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 10/15 | chr8 | TogoVar | ||||||
EBF2_chr8_25836725_26050413 | 25895923 | ATGTGTG | A | intron_variant | MODIFIER | HG02572.hp1 HG02622.hp1 HG03225.hp2 |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0036a0001c0002t0001a0001c0004t0010 | a0001c0001t0036g0159a0001c0002t0001g0053a0001c0004t0010g0005 | 3 | 220 | 0.0136 | -6 | c.634 others(23): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 7/15 | chr8 | TogoVar | ||||||
EBF2_chr8_25836725_26050413 | 25907419 | CAAAAAA | C | intron_variant | MODIFIER | HG01261.hp2 HG02145.hp2 HG02257.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0148a0001c0001t0002g0045a0001c0001t0003g0200others(15): Show | 18 | 220 | 0.0818 | -6 | c.633 others(23): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 7/15 | chr8 | TogoVar | ||||||
EBF2_chr8_25836725_26050413 | 25912466 | GCACACA | G | intron_variant | MODIFIER | HG02451.hp1 HG02451.hp2 HG02809.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0002a0001c0001t0018a0001c0001t0037others(5): Show | a0001c0001t0002g0033a0001c0001t0002g0052a0001c0001t0018g0006others(7): Show | 10 | 220 | 0.0455 | -6 | c.552 others(23): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 6/15 | chr8 | TogoVar | ||||||
EBF2_chr8_25836725_26050413 | 25934224 | TACACAC | T | intron_variant | MODIFIER | HG00597.hp2 HG00621.hp2 HG00735.hp1 others(48): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0039a0001c0001t0001g0107a0001c0001t0001g0114others(48): Show | 51 | 220 | 0.2318 | -6 | c.552 others(25): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 6/15 | chr8 | TogoVar | ||||||
EBF2_chr8_25836725_26050413 | 26010988 | TACACAC | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(173): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0019a0001c0001t0001g0037a0001c0001t0001g0039others(173): Show | 176 | 220 | 0.8000 | -6 | c.551 others(25): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 6/15 | chr8 | TogoVar | ||||||
EBF2_chr8_25836725_26050413 | 26018496 | CAAAAAA | C | intron_variant | MODIFIER | HG01952.hp2 HG02257.hp1 HG02647.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0002t0001a0002c0003t0005 | a0001c0001t0002g0025a0001c0001t0002g0026a0001c0001t0002g0028others(3): Show | 6 | 220 | 0.0273 | -6 | c.551 others(25): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 6/15 | chr8 | TogoVar | ||||||
EBF3_chr10_129830233_129969274 | 129846108 | TTGTGTG | T | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp1 HG00735.hp1 others(31): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0005a0001c0001t0001g0046a0001c0001t0001g0099others(31): Show | 34 | 338 | 0.1006 | -6 | c.112 others(25): Show |
EBF3 | ENSG00000108001.16 | transcript | ENST00000440978.2 | protein_coding | 11/16 | chr10 | TogoVar | ||||||
EBF3_chr10_129830233_129969274 | 129915493 | CACACAA | C | intron_variant | MODIFIER | HG00741.hp2 HG01069.hp1 HG01071.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(5): Show | a0001c0001t0001g0008a0001c0001t0001g0132a0001c0001t0001g0283others(10): Show | 13 | 338 | 0.0385 | -6 | c.555 others(25): Show |
EBF3 | ENSG00000108001.16 | transcript | ENST00000440978.2 | protein_coding | 6/16 | chr10 | TogoVar | ||||||
EBF3_chr10_129830233_129969274 | 129925085 | CGTGTGT | C | intron_variant | MODIFIER | HG00597.hp2 HG00621.hp2 HG01069.hp1 others(67): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0046others(67): Show | 70 | 338 | 0.2071 | -6 | c.554 others(25): Show |
EBF3 | ENSG00000108001.16 | transcript | ENST00000440978.2 | protein_coding | 6/16 | chr10 | TogoVar | ||||||
EBF3_chr10_129830233_129969274 | 129930492 | ATATATC | A | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG02145.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(4): Show | a0001c0001t0001g0004a0001c0001t0001g0081a0001c0001t0001g0194others(9): Show | 12 | 338 | 0.0355 | -6 | c.554 others(25): Show |
EBF3 | ENSG00000108001.16 | transcript | ENST00000440978.2 | protein_coding | 6/16 | chr10 | TogoVar | ||||||
EBF3_chr10_129830233_129969274 | 129930600 | ATATATC | A | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG01255.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0077a0001c0001t0001g0139a0001c0001t0001g0140others(14): Show | 17 | 338 | 0.0503 | -6 | c.554 others(25): Show |
EBF3 | ENSG00000108001.16 | transcript | ENST00000440978.2 | protein_coding | 6/16 | chr10 | TogoVar | ||||||
EBF4_chr20_2687780_2765108 | 2692998 | GGGCGCT | G | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(381): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0008a0001c0001t0001g0143a0001c0001t0001g0144others(371): Show | 384 | 388 | 0.9897 | -6 | c.-63 others(15): Show |
EBF4 | ENSG00000088881.22 | transcript | ENST00000609451.6 | protein_coding | 1/17 | 632 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||
EBF4_chr20_2687780_2765108 | 2705785 | CCACACA | C | intron_variant | MODIFIER | HG00438.hp1 HG01243.hp1 HG01361.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0265a0001c0001t0001g0266a0001c0001t0002g0016others(17): Show | 21 | 388 | 0.0541 | -6 | c.294 others(21): Show |
EBF4 | ENSG00000088881.22 | transcript | ENST00000609451.6 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EBF4_chr20_2687780_2765108 | 2711148 | AAATAAT | A | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01255.hp2 others(9): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0297a0001c0001t0001g0298a0001c0001t0001g0299others(9): Show | 12 | 388 | 0.0309 | -6 | c.557 others(23): Show |
EBF4 | ENSG00000088881.22 | transcript | ENST00000609451.6 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EBI3_chr19_4224523_4242528 | 4232240 | AAAAAAG | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00639.hp2 others(80): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0006others(2): Show | a0001c0001t0001g0137a0001c0001t0001g0161a0001c0001t0001g0202others(43): Show | 83 | 438 | 0.1895 | -6 | c.201 others(21): Show |
EBI3 | ENSG00000105246.6 | transcript | ENST00000221847.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
EBPL_chr13_49655674_49696486 | 49689659 | TTATATA | T | intron_variant | MODIFIER | HG02257.hp2 HG02896.hp1 HG02897.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039a0001c0001t0001g0153a0001c0001t0001g0154others(3): Show | 7 | 410 | 0.0171 | -6 | c.171 others(23): Show |
EBPL | ENSG00000123179.14 | transcript | ENST00000242827.11 | protein_coding | 1/3 | chr13 | TogoVar | ||||||
EBP_chrX_48516808_48533716 | 48525771 | GCATTTT | G | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0058 | 1 | 311 | 0.0032 | -6 | c.302 others(23): Show |
EBP | ENSG00000147155.11 | transcript | ENST00000495186.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ECD_chr10_73128668_73173008 | 73136954 | AATTATT | A | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp2 HG01243.hp2 others(31): Show |
a0002a0003a0006 | a0002c0002a0003c0004a0003c0005others(1): Show | a0002c0002t0003a0003c0004t0003a0003c0005t0003others(1): Show | a0002c0002t0003g0014a0002c0002t0003g0040a0002c0002t0003g0041others(27): Show | 34 | 272 | 0.1250 | -6 | c.149 others(21): Show |
ECD | ENSG00000122882.11 | transcript | ENST00000372979.9 | protein_coding | 12/13 | chr10 | TogoVar | ||||||
ECD_chr10_73128668_73173008 | 73142632 | CAAAAAA | C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp1 others(96): Show |
a0002a0003a0005others(1): Show | a0002c0002a0002c0003a0002c0008others(4): Show | a0002c0002t0002a0002c0002t0003a0002c0003t0002others(6): Show | a0002c0002t0002g0009a0002c0002t0002g0013a0002c0002t0002g0015others(81): Show | 99 | 272 | 0.3640 | -6 | c.112 others(25): Show |
ECD | ENSG00000122882.11 | transcript | ENST00000372979.9 | protein_coding | 9/13 | chr10 | TogoVar | ||||||
ECE2_chr3_184271022_184298031 | 184274795 | GGAAAGA | G | upstream_gene_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG01928.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0010a0001c0002t0001g0021 | 3 | 398 | 0.0075 | -6 | c.-13 others(17): Show |
ECE2 | ENSG00000145194.19 | transcript | ENST00000404464.8 | protein_coding | 1226 | chr3 | TogoVar | ||||||
ECE2_chr3_184271022_184298031 | 184296561 | CAAAAAA | C | downstream_gene_variant | MODIFIER | HG01261.hp2 HG01433.hp2 HG02451.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(3): Show | a0001c0001t0002g0042a0001c0001t0003g0004a0001c0001t0003g0027others(6): Show | 13 | 398 | 0.0327 | -6 | c.*43 others(17): Show |
ECE2 | ENSG00000145194.19 | transcript | ENST00000404464.8 | protein_coding | 3531 | chr3 | TogoVar | ||||||
ECH1_chr19_38810422_38836794 | 38820053 | CTTTTTT | C | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02155.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0081a0001c0001t0001g0126a0001c0003t0001g0022others(5): Show | 11 | 420 | 0.0262 | -6 | c.350 others(23): Show |
ECH1 | ENSG00000104823.9 | transcript | ENST00000221418.9 | protein_coding | 3/9 | chr19 | TogoVar | ||||||
ECHDC1_chr6_127283712_127348609 | 127309444 | TAAAGAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(255): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(216): Show | 258 | 358 | 0.7207 | -6 | c.497 others(23): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | TogoVar | ||||||
ECHDC1_chr6_127283712_127348609 | 127309480 | AACACAC | A | intron_variant | MODIFIER | HG01943.hp1 HG02451.hp1 HG02451.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0018others(4): Show | 12 | 358 | 0.0335 | -6 | c.497 others(23): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | TogoVar | ||||||
ECHDC1_chr6_127283712_127348609 | 127311698 | AGAAAAG | A | intron_variant | MODIFIER | HG00408.hp2 NA18939.hp1 NA18962.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0025a0001c0001t0001g0135a0001c0001t0001g0152others(7): Show | 11 | 358 | 0.0307 | -6 | c.497 others(23): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | TogoVar | ||||||
ECHDC1_chr6_127283712_127348609 | 127329744 | GTTAAAC | G | intron_variant | MODIFIER | HG01099.hp1 HG01109.hp2 HG03831.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031a0001c0001t0001g0205 | 3 | 358 | 0.0084 | -6 | c.220 others(23): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 2/5 | chr6 | TogoVar | ||||||
ECHDC1_chr6_127283712_127348609 | 127333666 | TACACAC | T | intron_variant | MODIFIER | HG02145.hp2 NA18942.hp1 NA18953.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0053a0001c0001t0001g0054a0001c0001t0001g0055others(5): Show | 8 | 358 | 0.0224 | -6 | c.-2- others(21): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | TogoVar | ||||||
ECHDC2_chr1_52890910_52926740 | 52922096 | CTTTTTT | C | upstream_gene_variant | MODIFIER | HG01175.hp2 HG01884.hp1 HG02055.hp2 others(11): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0004 | a0001c0001t0002a0001c0001t0004a0002c0003t0001others(1): Show | a0001c0001t0002g0004a0001c0001t0004g0010a0001c0001t0004g0164others(7): Show | 14 | 314 | 0.0446 | -6 | c.-42 others(15): Show |
ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 357 | chr1 | TogoVar | ||||||
ECHS1_chr10_133357485_133378354 | 133363351 | GCGCGCA | G | intron_variant | MODIFIER | HG02615.hp1 HG03209.hp2 HG03540.hp1 |
a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0160a0003c0004t0002g0161a0003c0004t0002g0172 | 3 | 354 | 0.0085 | -6 | c.808 others(21): Show |
ECHS1 | ENSG00000127884.5 | transcript | ENST00000368547.4 | protein_coding | 7/7 | chr10 | TogoVar | ||||||
ECHS1_chr10_133357485_133378354 | 133373592 | GCGCCCC | G | upstream_gene_variant | MODIFIER | HG00733.hp2 HG01069.hp1 HG01069.hp2 others(61): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(8): Show | a0001c0001t0001g0011a0002c0002t0001g0033a0002c0002t0001g0037others(37): Show | 64 | 354 | 0.1808 | -6 | c.-26 others(15): Show |
ECHS1 | ENSG00000127884.5 | transcript | ENST00000368547.4 | protein_coding | 239 | chr10 | TogoVar | ||||||
ECI1_chr16_2234402_2256587 | 2238243 | GGCCCCT | G | downstream_gene_variant | MODIFIER | HG00438.hp1 HG01496.hp1 HG02015.hp2 others(14): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0009others(1): Show | a0001c0001t0001a0001c0002t0001a0005c0009t0001others(1): Show | a0001c0001t0001g0015a0001c0001t0001g0049a0001c0001t0001g0131others(11): Show | 17 | 436 | 0.0390 | -6 | c.*17 others(17): Show |
ECI1 | ENSG00000167969.13 | transcript | ENST00000301729.9 | protein_coding | 1158 | chr16 | TogoVar | ||||||
ECM1_chr1_150503109_150518789 | 150503708 | TACACAC | T | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00597.hp1 others(20): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0001a0006c0008t0001 | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0028others(1): Show | 23 | 420 | 0.0548 | -6 | c.-45 others(17): Show |
ECM1 | ENSG00000143369.15 | transcript | ENST00000369047.9 | protein_coding | 4400 | chr1 | TogoVar |