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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
E2F7_chr12_77016251_77070569 | 77068808 | TATATATA others(3): Show |
T | upstream_gene_variant | MODIFIER | HG02717.hp2 HG02809.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0042 | 2 | 394 | 0.0051 | -10 | c.-34 others(21): Show |
E2F7 | ENSG00000165891.16 | transcript | ENST00000322886.12 | protein_coding | 3240 | chr12 | TogoVar | ||||||
EAPP_chr14_34510938_34544701 | 34542793 | TAAATAAA others(3): Show |
T | upstream_gene_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG00673.hp1 others(35): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0008others(29): Show | 38 | 360 | 0.1056 | -10 | c.-31 others(21): Show |
EAPP | ENSG00000129518.10 | transcript | ENST00000250454.8 | protein_coding | 3093 | chr14 | TogoVar | ||||||
EAPP_chr14_34510938_34544701 | 34544073 | ATATGTGT others(3): Show |
A | upstream_gene_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0296 | 1 | 360 | 0.0028 | -10 | c.-44 others(21): Show |
EAPP | ENSG00000129518.10 | transcript | ENST00000250454.8 | protein_coding | 4373 | chr14 | TogoVar | ||||||
EARS2_chr16_23515754_23562350 | 23527550 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02572.hp1 HG02647.hp1 HG02895.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0003a0002c0002t0005g0064a0002c0002t0005g0065others(2): Show | 7 | 286 | 0.0245 | -10 | c.135 others(29): Show |
EARS2 | ENSG00000103356.18 | transcript | ENST00000449606.7 | protein_coding | 7/8 | chr16 | TogoVar | ||||||
EARS2_chr16_23515754_23562350 | 23538973 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0159 | 1 | 286 | 0.0035 | -10 | c.486 others(27): Show |
EARS2 | ENSG00000103356.18 | transcript | ENST00000449606.7 | protein_coding | 3/8 | chr16 | TogoVar | ||||||
EBF1_chr5_158690920_159104916 | 158775783 | GACACACA others(3): Show |
G | intron_variant | MODIFIER | HG01981.hp2 HG02809.hp2 HG03130.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0020a0001c0002t0006 | a0001c0001t0001g0147a0001c0001t0020g0098a0001c0002t0006g0022 | 3 | 196 | 0.0153 | -10 | c.103 others(29): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 10/15 | chr5 | TogoVar | ||||||
EBF1_chr5_158690920_159104916 | 158840663 | TTTTTTTT others(3): Show |
T | intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0002 | a0001c0002t0034 | a0001c0002t0034g0008 | 1 | 196 | 0.0051 | -10 | c.555 others(25): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
EBF1_chr5_158690920_159104916 | 158852039 | GGAGGGGA others(3): Show |
G | intron_variant | MODIFIER | HG02015.hp2 NA18966.hp1 |
a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0060a0001c0001t0019g0067 | 2 | 196 | 0.0102 | -10 | c.555 others(29): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
EBF1_chr5_158690920_159104916 | 158866833 | GTATATAT others(3): Show |
G | intron_variant | MODIFIER | HG01168.hp1 HG02074.hp1 HG02145.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0040others(3): Show | a0001c0001t0002g0121a0001c0001t0004g0134a0001c0001t0040g0026others(3): Show | 6 | 196 | 0.0306 | -10 | c.555 others(29): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
EBF1_chr5_158690920_159104916 | 158869578 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG02486.hp1 HG03041.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0063a0001c0001t0094 | a0001c0001t0002g0101a0001c0001t0063g0057a0001c0001t0094g0194 | 3 | 196 | 0.0153 | -10 | c.555 others(29): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
EBF1_chr5_158690920_159104916 | 158911627 | GAACAAAT others(3): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(14): Show | a0001c0001t0001g0116a0001c0001t0001g0127a0001c0001t0002g0100others(20): Show | 23 | 196 | 0.1174 | -10 | c.555 others(29): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
EBF1_chr5_158690920_159104916 | 158943331 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00544.hp2 others(71): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(41): Show | a0001c0001t0001g0142a0001c0001t0002g0121a0001c0001t0002g0135others(71): Show | 74 | 196 | 0.3776 | -10 | c.555 others(31): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
EBF1_chr5_158690920_159104916 | 158956028 | ATGTGTGT others(3): Show |
A | intron_variant | MODIFIER | HG02129.hp1 HG02257.hp2 HG02451.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0147a0001c0001t0002g0150a0001c0001t0004g0125others(14): Show | 17 | 196 | 0.0867 | -10 | c.555 others(31): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
EBF1_chr5_158690920_159104916 | 158969908 | GAAAGAAA others(3): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG01361.hp1 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0021 | a0001c0001t0012g0011a0001c0001t0021g0117 | 2 | 196 | 0.0102 | -10 | c.554 others(31): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
EBF1_chr5_158690920_159104916 | 159060933 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG01070.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0136a0001c0001t0002g0133a0001c0001t0002g0150others(21): Show | 24 | 196 | 0.1225 | -10 | c.554 others(29): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
EBF1_chr5_158690920_159104916 | 159087375 | TATATATA others(3): Show |
T | intron_variant | MODIFIER | HG02723.hp2 HG03579.hp2 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0048a0002c0003t0046 | a0001c0002t0048g0032a0002c0003t0046g0033 | 2 | 196 | 0.0102 | -10 | c.412 others(27): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 4/15 | chr5 | TogoVar | ||||||
EBF1_chr5_158690920_159104916 | 159099919 | GAAAAAAA others(3): Show |
G | upstream_gene_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0086 | a0001c0001t0086g0154 | 1 | 196 | 0.0051 | -10 | c.-45 others(19): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 4 | chr5 | TogoVar | ||||||
EBF2_chr8_25836725_26050413 | 25838188 | GCTCTCTC others(3): Show |
G | downstream_gene_variant | MODIFIER | HG02280.hp2 HG02895.hp2 HG03139.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0020a0001c0002t0001a0001c0002t0003others(3): Show | a0001c0001t0020g0047a0001c0002t0001g0055a0001c0002t0001g0096others(6): Show | 9 | 220 | 0.0409 | -10 | c.*64 others(21): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 3536 | chr8 | TogoVar | ||||||
EBF2_chr8_25836725_26050413 | 25856967 | TTGTTAGA others(3): Show |
T | intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 220 | 0.0046 | -10 | c.152 others(29): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 14/15 | chr8 | TogoVar | ||||||
EBF2_chr8_25836725_26050413 | 25893271 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(84): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0032a0001c0001t0001g0037a0001c0001t0001g0039others(84): Show | 87 | 220 | 0.3955 | -10 | c.634 others(27): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 7/15 | chr8 | TogoVar | ||||||
EBF2_chr8_25836725_26050413 | 25895923 | ATGTGTGT others(3): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG01175.hp1 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0106a0001c0001t0001g0114a0001c0001t0001g0121others(17): Show | 20 | 220 | 0.0909 | -10 | c.634 others(27): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 7/15 | chr8 | TogoVar | ||||||
EBF2_chr8_25836725_26050413 | 25907419 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0059 | 1 | 220 | 0.0046 | -10 | c.633 others(27): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 7/15 | chr8 | TogoVar | ||||||
EBF2_chr8_25836725_26050413 | 25934224 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG02965.hp2 HG02970.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0031others(2): Show | a0001c0001t0003g0208a0001c0001t0004g0044a0001c0001t0031g0150others(2): Show | 5 | 220 | 0.0227 | -10 | c.552 others(29): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 6/15 | chr8 | TogoVar | ||||||
EBF3_chr10_129830233_129969274 | 129837033 | CTACAATT others(3): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0002 | a0001c0002t0042 | a0001c0002t0042g0290 | 1 | 338 | 0.0030 | -10 | c.*90 others(19): Show |
EBF3 | ENSG00000108001.16 | transcript | ENST00000440978.2 | protein_coding | 17/17 | 900 | chr10 | TogoVar | |||||
EBF3_chr10_129830233_129969274 | 129846108 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG01069.hp2 HG01167.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0083a0001c0001t0001g0157a0001c0001t0001g0162others(23): Show | 26 | 338 | 0.0769 | -10 | c.112 others(29): Show |
EBF3 | ENSG00000108001.16 | transcript | ENST00000440978.2 | protein_coding | 11/16 | chr10 | TogoVar | ||||||
EBF3_chr10_129830233_129969274 | 129915489 | CACACACA others(3): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG00639.hp1 others(45): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0032a0001c0001t0001g0062a0001c0001t0001g0064others(45): Show | 48 | 338 | 0.1420 | -10 | c.555 others(29): Show |
EBF3 | ENSG00000108001.16 | transcript | ENST00000440978.2 | protein_coding | 6/16 | chr10 | TogoVar | ||||||
EBF4_chr20_2687780_2765108 | 2705785 | CCACACAC others(3): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01109.hp1 HG01169.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0256a0001c0001t0002g0002a0001c0001t0002g0126others(14): Show | 18 | 388 | 0.0464 | -10 | c.294 others(24): Show |
EBF4 | ENSG00000088881.22 | transcript | ENST00000609451.6 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EBF4_chr20_2687780_2765108 | 2743319 | TCTAGGTC others(3): Show |
T | intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0109 | 1 | 388 | 0.0026 | -10 | c.558 others(27): Show |
EBF4 | ENSG00000088881.22 | transcript | ENST00000609451.6 | protein_coding | 6/16 | chr20 | TogoVar | ||||||
EBI3_chr19_4224523_4242528 | 4232241 | AAAAAGAA others(3): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp1 HG02896.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0125a0001c0001t0001g0146a0001c0001t0001g0147others(8): Show | 13 | 438 | 0.0297 | -10 | c.201 others(25): Show |
EBI3 | ENSG00000105246.6 | transcript | ENST00000221847.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
EBPL_chr13_49655674_49696486 | 49683545 | ACAAAAAA others(3): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00597.hp1 HG00609.hp1 others(56): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022a0001c0001t0001g0023a0001c0001t0001g0051others(46): Show | 59 | 410 | 0.1439 | -10 | c.171 others(27): Show |
EBPL | ENSG00000123179.14 | transcript | ENST00000242827.11 | protein_coding | 1/3 | chr13 | TogoVar | ||||||
EBPL_chr13_49655674_49696486 | 49688718 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 410 | 0.0024 | -10 | c.171 others(27): Show |
EBPL | ENSG00000123179.14 | transcript | ENST00000242827.11 | protein_coding | 1/3 | chr13 | TogoVar | ||||||
ECD_chr10_73128668_73173008 | 73157946 | ATTATTTT others(3): Show |
A | intron_variant | MODIFIER | HG02647.hp1 HG03098.hp2 |
a0002a0003 | a0002c0002a0003c0004 | a0002c0002t0002a0003c0004t0003 | a0002c0002t0002g0055a0003c0004t0003g0109 | 2 | 272 | 0.0074 | -10 | c.324 others(27): Show |
ECD | ENSG00000122882.11 | transcript | ENST00000372979.9 | protein_coding | 3/13 | chr10 | TogoVar | ||||||
ECE1_chr1_21212250_21295463 | 21213978 | CTTTTTTT others(3): Show |
C | downstream_gene_variant | MODIFIER | HG01069.hp1 HG01069.hp2 HG01071.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0004a0001c0001t0024a0001c0001t0035others(6): Show | a0001c0001t0004g0289a0001c0001t0024g0210a0001c0001t0035g0097others(29): Show | 33 | 304 | 0.1086 | -10 | c.*59 others(21): Show |
ECE1 | ENSG00000117298.16 | transcript | ENST00000374893.11 | protein_coding | 3271 | chr1 | TogoVar | ||||||
ECE1_chr1_21212250_21295463 | 21273346 | CGTGTGTG others(3): Show |
C | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0242 | 1 | 304 | 0.0033 | -10 | c.281 others(25): Show |
ECE1 | ENSG00000117298.16 | transcript | ENST00000374893.11 | protein_coding | 3/18 | chr1 | TogoVar | ||||||
ECE1_chr1_21212250_21295463 | 21281191 | GAAAACAA others(3): Show |
G | intron_variant | MODIFIER | HG01256.hp2 HG01258.hp2 HG01515.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0027 | a0001c0001t0001g0116a0001c0001t0001g0117a0001c0001t0001g0118others(1): Show | 4 | 304 | 0.0132 | -10 | c.139 others(27): Show |
ECE1 | ENSG00000117298.16 | transcript | ENST00000374893.11 | protein_coding | 2/18 | chr1 | TogoVar | ||||||
ECE2_chr3_184271022_184298031 | 184274771 | GAAAGAAA others(3): Show |
G | upstream_gene_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0009 | 1 | 398 | 0.0025 | -10 | c.-13 others(21): Show |
ECE2 | ENSG00000145194.19 | transcript | ENST00000404464.8 | protein_coding | 1250 | chr3 | TogoVar | ||||||
ECE2_chr3_184271022_184298031 | 184283561 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(155): Show |
a0001a0003a0004others(1): Show | a0001c0002a0003c0016a0004c0012others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(5): Show | a0001c0002t0001g0001a0001c0002t0001g0005a0001c0002t0001g0010others(49): Show | 158 | 398 | 0.3970 | -10 | c.817 others(25): Show |
ECE2 | ENSG00000145194.19 | transcript | ENST00000404464.8 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ECEL1_chr2_232474827_232492834 | 232490434 | CTGCCTCG others(3): Show |
C | upstream_gene_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 438 | 0.0023 | -10 | c.-28 others(21): Show |
ECEL1 | ENSG00000171551.12 | transcript | ENST00000304546.6 | protein_coding | 2601 | chr2 | TogoVar | ||||||
ECHDC1_chr6_127283712_127348609 | 127309480 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00673.hp1 HG00738.hp2 others(55): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0009a0001c0002t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0013others(43): Show | 58 | 358 | 0.1620 | -10 | c.497 others(27): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | TogoVar | ||||||
ECHDC1_chr6_127283712_127348609 | 127311669 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 358 | 0.0028 | -10 | c.497 others(27): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | TogoVar | ||||||
ECHDC1_chr6_127283712_127348609 | 127333666 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG03516.hp1 NA18946.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0130a0001c0001t0001g0131a0001c0001t0003g0112 | 3 | 358 | 0.0084 | -10 | c.-2- others(25): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | TogoVar | ||||||
ECHDC2_chr1_52890910_52926740 | 52922096 | CTTTTTTT others(3): Show |
C | upstream_gene_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 314 | 0.0032 | -10 | c.-43 others(19): Show |
ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 357 | chr1 | TogoVar | ||||||
ECHDC3_chr10_11737382_11769070 | 11742340 | GAGGGGCG others(3): Show |
G | upstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0031 | 1 | 420 | 0.0024 | -10 | c.-23 others(19): Show |
ECHDC3 | ENSG00000134463.15 | transcript | ENST00000379215.9 | protein_coding | 41 | chr10 | TogoVar | ||||||
ECHDC3_chr10_11737382_11769070 | 11743603 | AGCTGCTC others(3): Show |
A | intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 420 | 0.0024 | -10 | c.170 others(25): Show |
ECHDC3 | ENSG00000134463.15 | transcript | ENST00000379215.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ECHDC3_chr10_11737382_11769070 | 11746328 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(377): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(26): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(209): Show | 380 | 420 | 0.9048 | -10 | c.171 others(26): Show |
ECHDC3 | ENSG00000134463.15 | transcript | ENST00000379215.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ECHDC3_chr10_11737382_11769070 | 11749773 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02809.hp1 HG03098.hp1 |
a0002 | a0002c0006 | a0002c0006t0003 | a0002c0006t0003g0021 | 3 | 420 | 0.0071 | -10 | c.390 others(25): Show |
ECHDC3 | ENSG00000134463.15 | transcript | ENST00000379215.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ECM1_chr1_150503109_150518789 | 150503605 | GTGTGTAT others(3): Show |
G | upstream_gene_variant | MODIFIER | HG02630.hp2 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0011 | 1 | 420 | 0.0024 | -10 | c.-46 others(21): Show |
ECM1 | ENSG00000143369.15 | transcript | ENST00000369047.9 | protein_coding | 4503 | chr1 | TogoVar | ||||||
ECM1_chr1_150503109_150518789 | 150503621 | GTGTGTAT others(3): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG01074.hp1 HG01074.hp2 others(6): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0003a0001c0003t0001g0033a0001c0003t0001g0034others(1): Show | 9 | 420 | 0.0214 | -10 | c.-45 others(21): Show |
ECM1 | ENSG00000143369.15 | transcript | ENST00000369047.9 | protein_coding | 4487 | chr1 | TogoVar | ||||||
ECM1_chr1_150503109_150518789 | 150506484 | GCGCACAC others(3): Show |
G | upstream_gene_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0039 | 1 | 420 | 0.0024 | -10 | c.-17 others(21): Show |
ECM1 | ENSG00000143369.15 | transcript | ENST00000369047.9 | protein_coding | 1624 | chr1 | TogoVar | ||||||
ECM2_chr9_92490315_92540990 | 92522065 | GTTGTTTT others(3): Show |
G | intron_variant | MODIFIER | HG01346.hp2 HG02027.hp1 NA18975.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0312a0001c0001t0001g0313a0002c0003t0001g0206 | 3 | 400 | 0.0075 | -10 | c.292 others(25): Show |
ECM2 | ENSG00000106823.13 | transcript | ENST00000344604.10 | protein_coding | 2/9 | chr9 | TogoVar |