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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EVI5_chr1_92503696_92790108 | 92648203 | AAAAAAAA others(9): Show |
A | intron_variant | MODIFIER | HG03098.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0027 | a0001c0001t0002g0104a0001c0001t0027g0004 | 2 | 168 | 0.0119 | -16 | c.139 others(37): Show |
EVI5 | ENSG00000067208.17 | transcript | ENST00000684568.2 | protein_coding | 13/19 | chr1 | TogoVar | ||||||
EVI5_chr1_92503696_92790108 | 92744594 | TCTCTCTC others(9): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00544.hp1 others(14): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(6): Show | a0001c0001t0001g0059a0001c0001t0001g0083a0001c0001t0001g0084others(14): Show | 17 | 168 | 0.1012 | -16 | c.-81 others(33): Show |
EVI5 | ENSG00000067208.17 | transcript | ENST00000684568.2 | protein_coding | 1/19 | chr1 | TogoVar | ||||||
EVI5_chr1_92503696_92790108 | 92744596 | TCTCTCAC others(9): Show |
T | intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 168 | 0.0060 | -16 | c.-81 others(33): Show |
EVI5 | ENSG00000067208.17 | transcript | ENST00000684568.2 | protein_coding | 1/19 | chr1 | TogoVar | ||||||
EVPLL_chr17_18372778_18394647 | 18373800 | CAAAAAAA others(9): Show |
C | upstream_gene_variant | MODIFIER | HG03540.hp2 NA20752.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0003a0001c0003t0002 | a0001c0002t0003g0020a0001c0003t0002g0003 | 2 | 408 | 0.0049 | -16 | c.-42 others(27): Show |
EVPLL | ENSG00000214860.5 | transcript | ENST00000399134.5 | protein_coding | 3977 | chr17 | TogoVar | ||||||
EVPL_chr17_76001845_76032306 | 76006140 | ATGATTTT others(9): Show |
A | downstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG02723.hp1 others(9): Show |
a0005a0008 | a0005c0007a0008c0010a0008c0033 | a0005c0007t0001a0008c0010t0001a0008c0033t0001 | a0005c0007t0001g0037a0005c0007t0001g0038a0005c0007t0001g0039others(5): Show | 12 | 404 | 0.0297 | -16 | c.*94 others(25): Show |
EVPL | ENSG00000167880.8 | transcript | ENST00000301607.8 | protein_coding | 704 | chr17 | TogoVar | ||||||
EVPL_chr17_76001845_76032306 | 76014890 | TGTGCCCC others(9): Show |
T | intron_variant | MODIFIER | HG02723.hp1 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0231 | 1 | 404 | 0.0025 | -16 | c.222 others(31): Show |
EVPL | ENSG00000167880.8 | transcript | ENST00000301607.8 | protein_coding | 17/21 | chr17 | TogoVar | ||||||
EVX1_chr7_27237802_27252830 | 27252583 | GGTGTGTG others(9): Show |
G | downstream_gene_variant | MODIFIER | HG01109.hp2 HG02451.hp1 HG02818.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0006 | 6 | 398 | 0.0151 | -16 | c.*61 others(27): Show |
EVX1 | ENSG00000106038.13 | transcript | ENST00000496902.7 | protein_coding | 4754 | chr7 | TogoVar | ||||||
EWSR1_chr22_29263268_29305521 | 29280862 | GTTTTTTT others(9): Show |
G | intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 390 | 0.0026 | -16 | c.414 others(33): Show |
EWSR1 | ENSG00000182944.18 | transcript | ENST00000397938.7 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
EXD1_chr15_41177728_41235757 | 41205702 | GGAAGGAG others(9): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00558.hp1 others(73): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0011a0002c0013others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0015others(73): Show | 76 | 318 | 0.2390 | -16 | c.534 others(33): Show |
EXD1 | ENSG00000178997.12 | transcript | ENST00000458580.7 | protein_coding | 7/11 | chr15 | TogoVar | ||||||
EXD2_chr14_69186498_69249018 | 69188447 | TCCTTCCT others(9): Show |
T | upstream_gene_variant | MODIFIER | HG02109.hp1 HG02818.hp1 HG02922.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0089a0001c0001t0002g0090a0001c0001t0002g0098others(3): Show | 6 | 234 | 0.0256 | -16 | c.-32 others(27): Show |
EXD2 | ENSG00000081177.19 | transcript | ENST00000685843.1 | protein_coding | 3050 | chr14 | TogoVar | ||||||
EXOC2_chr6_480154_698139 | 501070 | ATATCTAT others(9): Show |
A | intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 272 | 0.0037 | -16 | c.238 others(35): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | ||||||
EXOC2_chr6_480154_698139 | 501342 | TTATATAT others(9): Show |
T | intron_variant | MODIFIER | HG02615.hp2 HG02818.hp2 |
a0001a0002 | a0001c0004a0002c0005 | a0001c0004t0002a0002c0005t0002 | a0001c0004t0002g0156a0002c0005t0002g0152 | 2 | 272 | 0.0074 | -16 | c.238 others(35): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | ||||||
EXOC2_chr6_480154_698139 | 673252 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01175.hp2 HG01952.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0063a0001c0001t0001g0108a0001c0001t0001g0109others(21): Show | 24 | 272 | 0.0882 | -16 | c.-44 others(35): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 1/27 | chr6 | TogoVar | ||||||
EXOC3_chr5_438176_472290 | 441497 | CTTTTTTT others(9): Show |
C | upstream_gene_variant | MODIFIER | HG00558.hp2 HG00642.hp2 HG01070.hp2 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0016a0001c0001t0041 | a0001c0001t0004g0004a0001c0001t0004g0049a0001c0001t0004g0051others(15): Show | 34 | 418 | 0.0813 | -16 | c.-18 others(27): Show |
EXOC3 | ENSG00000180104.16 | transcript | ENST00000512944.6 | protein_coding | 1678 | chr5 | TogoVar | ||||||
EXOC4_chr7_133248078_134070761 | 133676941 | GTGTGTGT others(9): Show |
G | intron_variant | MODIFIER | HG02622.hp1 NA19043.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0002 | a0001c0001t0003g0055a0001c0002t0002g0071 | 2 | 102 | 0.0196 | -16 | c.151 others(37): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EXOC4_chr7_133248078_134070761 | 133686991 | TTTTGTGT others(9): Show |
T | intron_variant | MODIFIER | HG01884.hp1 NA18948.hp1 NA18954.hp2 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001a0001c0003t0002 | a0001c0002t0001g0047a0001c0003t0001g0048a0001c0003t0002g0036others(1): Show | 4 | 102 | 0.0392 | -16 | c.151 others(37): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EXOC4_chr7_133248078_134070761 | 133739222 | TTGTGTGT others(9): Show |
T | intron_variant | MODIFIER | HG01255.hp1 HG02109.hp2 HG02647.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0006 | a0001c0001t0001g0080a0001c0002t0001g0063a0001c0002t0006g0065others(1): Show | 4 | 102 | 0.0392 | -16 | c.151 others(37): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EXOC4_chr7_133248078_134070761 | 133765915 | GCTCATGT others(9): Show |
G | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0082 | 1 | 102 | 0.0098 | -16 | c.151 others(37): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EXOC4_chr7_133248078_134070761 | 133787374 | TGTGTGTG others(9): Show |
T | intron_variant | MODIFIER | HG02717.hp2 HG02976.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0083a0001c0002t0001g0101 | 2 | 102 | 0.0196 | -16 | c.151 others(37): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EXOC4_chr7_133248078_134070761 | 133787955 | TTATATAT others(9): Show |
T | intron_variant | MODIFIER | HG02071.hp2 HG02080.hp1 HG03540.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0001a0001c0004t0002others(1): Show | a0001c0001t0001g0027a0001c0001t0001g0031a0001c0003t0001g0023others(2): Show | 5 | 102 | 0.0490 | -16 | c.151 others(37): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EXOC4_chr7_133248078_134070761 | 133823864 | TATATATA others(9): Show |
T | intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0054 | 1 | 102 | 0.0098 | -16 | c.173 others(35): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 11/17 | chr7 | TogoVar | ||||||
EXOC4_chr7_133248078_134070761 | 133845335 | AGTGTGTG others(9): Show |
A | intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0013 | 1 | 102 | 0.0098 | -16 | c.173 others(37): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EXOC4_chr7_133248078_134070761 | 133853345 | AACACACA others(9): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG02055.hp2 HG02647.hp2 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0007a0001c0005t0011others(1): Show | a0001c0001t0001g0080a0001c0005t0007g0025a0001c0005t0011g0043others(1): Show | 4 | 102 | 0.0392 | -16 | c.173 others(37): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EXOC4_chr7_133248078_134070761 | 133857309 | ATATATAT others(9): Show |
A | intron_variant | MODIFIER | HG01496.hp1 HG02647.hp1 NA18983.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0004t0001 | a0001c0001t0003g0074a0001c0001t0003g0076a0001c0004t0001g0062 | 3 | 102 | 0.0294 | -16 | c.173 others(37): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EXOC4_chr7_133248078_134070761 | 133884581 | CTGTGTGT others(9): Show |
C | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0093 | 1 | 102 | 0.0098 | -16 | c.173 others(37): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EXOC5_chr14_57195507_57273905 | 57238363 | TATATATA others(9): Show |
T | intron_variant | MODIFIER | HG01361.hp2 HG02615.hp2 NA20300.hp1 |
a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0047a0001c0002t0017g0048a0001c0002t0017g0049 | 3 | 214 | 0.0140 | -16 | c.531 others(32): Show |
EXOC5 | ENSG00000070367.17 | transcript | ENST00000621441.5 | protein_coding | 5/17 | chr14 | TogoVar | ||||||
EXOC6B_chr2_72170984_72831033 | 72335548 | GCACACAC others(9): Show |
G | intron_variant | MODIFIER | HG03490.hp2 HG03492.hp2 |
a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0015a0001c0002t0014g0016 | 2 | 104 | 0.0192 | -16 | c.212 others(33): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 19/21 | chr2 | TogoVar | ||||||
EXOC6B_chr2_72170984_72831033 | 72601124 | ATGTGTGT others(9): Show |
A | intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0025 | 1 | 104 | 0.0096 | -16 | c.670 others(35): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 6/21 | chr2 | TogoVar | ||||||
EXOC6B_chr2_72170984_72831033 | 72631459 | TATAGAGA others(9): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG02818.hp2 |
a0001 | a0001c0002 | a0001c0002t0009a0001c0002t0011 | a0001c0002t0009g0023a0001c0002t0011g0067 | 2 | 104 | 0.0192 | -16 | c.670 others(35): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 6/21 | chr2 | TogoVar | ||||||
EXOC6B_chr2_72170984_72831033 | 72631461 | TAGAGAGA others(9): Show |
T | intron_variant | MODIFIER | HG02922.hp1 HG03516.hp1 |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0068a0001c0002t0005g0072 | 2 | 104 | 0.0192 | -16 | c.670 others(35): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 6/21 | chr2 | TogoVar | ||||||
EXOC6B_chr2_72170984_72831033 | 72636357 | GAAGGAAG others(9): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG03041.hp1 |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0009a0002c0004t0008 | a0001c0002t0009g0003a0002c0004t0008g0002 | 2 | 104 | 0.0192 | -16 | c.670 others(35): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 6/21 | chr2 | TogoVar | ||||||
EXOC6B_chr2_72170984_72831033 | 72671749 | GAGAAAGA others(9): Show |
G | intron_variant | MODIFIER | HG02486.hp2 HG02922.hp1 HG03130.hp1 others(8): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0006others(1): Show | a0001c0002t0001a0001c0002t0004a0001c0002t0005others(4): Show | a0001c0002t0001g0006a0001c0002t0001g0007a0001c0002t0004g0013others(8): Show | 11 | 104 | 0.1058 | -16 | c.669 others(35): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 6/21 | chr2 | TogoVar | ||||||
EXOC6_chr10_92843520_93064490 | 92896175 | ATATATAT others(9): Show |
A | intron_variant | MODIFIER | HG03225.hp2 NA18522.hp1 |
a0001a0007 | a0001c0001a0007c0007 | a0001c0001t0002a0007c0007t0002 | a0001c0001t0002g0075a0007c0007t0002g0078 | 2 | 288 | 0.0069 | -16 | c.412 others(33): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
EXOC6_chr10_92843520_93064490 | 92896177 | ATATATTT others(9): Show |
A | intron_variant | MODIFIER | NA18941.hp1 NA18950.hp1 NA18959.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030a0001c0001t0001g0041a0001c0001t0001g0042others(3): Show | 6 | 288 | 0.0208 | -16 | c.412 others(33): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
EXOC6_chr10_92843520_93064490 | 92896179 | ATATTTTT others(9): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG03486.hp1 HG04115.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0003c0003t0003 | a0001c0001t0001g0100a0001c0001t0002g0077a0001c0001t0002g0246others(1): Show | 4 | 288 | 0.0139 | -16 | c.412 others(33): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
EXOC6_chr10_92843520_93064490 | 92896181 | ATTTTTTT others(9): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG02015.hp2 HG02109.hp1 others(14): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0003c0003t0003 | a0001c0001t0001g0008a0001c0001t0001g0096a0001c0001t0001g0113others(14): Show | 17 | 288 | 0.0590 | -16 | c.412 others(33): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
EXOC6_chr10_92843520_93064490 | 92945456 | CATGGAGC others(9): Show |
C | intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0190 | 1 | 288 | 0.0035 | -16 | c.131 others(35): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 13/21 | chr10 | TogoVar | ||||||
EXOC7_chr17_76076016_76108787 | 76097703 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0072 | 1 | 366 | 0.0027 | -16 | c.640 others(29): Show |
EXOC7 | ENSG00000182473.22 | transcript | ENST00000589210.6 | protein_coding | 5/18 | chr17 | TogoVar | ||||||
EXOG_chr3_38491340_38531303 | 38492731 | TACACACA others(9): Show |
T | upstream_gene_variant | MODIFIER | HG01515.hp2 HG02109.hp2 HG03041.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0053a0001c0001t0001g0058a0001c0001t0001g0106others(3): Show | 6 | 412 | 0.0146 | -16 | c.-36 others(27): Show |
EXOG | ENSG00000157036.13 | transcript | ENST00000287675.10 | protein_coding | 3608 | chr3 | TogoVar | ||||||
EXOG_chr3_38491340_38531303 | 38492789 | CACACACA others(9): Show |
C | upstream_gene_variant | MODIFIER | HG01081.hp1 HG02647.hp1 HG03834.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0023a0001c0001t0001g0136a0001c0001t0001g0152others(5): Show | 8 | 412 | 0.0194 | -16 | c.-35 others(27): Show |
EXOG | ENSG00000157036.13 | transcript | ENST00000287675.10 | protein_coding | 3550 | chr3 | TogoVar | ||||||
EXOSC10_chr1_11061618_11104869 | 11103029 | CAAAAAAA others(9): Show |
C | upstream_gene_variant | MODIFIER | HG01891.hp1 HG03516.hp1 NA18522.hp1 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0065a0001c0005t0001g0066a0001c0005t0001g0067 | 3 | 284 | 0.0106 | -16 | c.-32 others(27): Show |
EXOSC10 | ENSG00000171824.14 | transcript | ENST00000376936.9 | protein_coding | 3161 | chr1 | TogoVar | ||||||
EXOSC1_chr10_97430909_97451006 | 97434939 | CCCAGCAC others(9): Show |
C | downstream_gene_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0021 | 2 | 430 | 0.0047 | -16 | c.*14 others(27): Show |
EXOSC1 | ENSG00000171311.13 | transcript | ENST00000370902.8 | protein_coding | 969 | chr10 | TogoVar | ||||||
EXPH5_chr11_108500435_108598768 | 108532360 | ATATATAT others(9): Show |
A | intron_variant | MODIFIER | HG02074.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0174 | 1 | 314 | 0.0032 | -16 | c.444 others(33): Show |
EXPH5 | ENSG00000110723.12 | transcript | ENST00000265843.9 | protein_coding | 3/5 | chr11 | TogoVar | ||||||
EXPH5_chr11_108500435_108598768 | 108573139 | GGAAAGAA others(9): Show |
G | intron_variant | MODIFIER | HG01123.hp1 HG02818.hp2 HG02976.hp2 others(3): Show |
a0002a0013a0023 | a0002c0002a0013c0013a0023c0041 | a0002c0002t0003a0013c0013t0006a0023c0041t0004 | a0002c0002t0003g0199a0013c0013t0006g0239a0013c0013t0006g0240others(3): Show | 6 | 314 | 0.0191 | -16 | c.119 others(35): Show |
EXPH5 | ENSG00000110723.12 | transcript | ENST00000265843.9 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 117858712 | AGAAGGAA others(9): Show |
A | intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0050 | 1 | 190 | 0.0053 | -16 | c.963 others(35): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 117858844 | GGAAAGAA others(9): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG01943.hp2 HG01952.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0015others(3): Show | a0001c0001t0002g0053a0001c0001t0002g0105a0001c0001t0002g0107others(5): Show | 9 | 190 | 0.0474 | -16 | c.963 others(35): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 117875420 | CTAAATAA others(9): Show |
C | intron_variant | MODIFIER | HG02559.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0064 | a0001c0001t0006g0126a0001c0001t0064g0177 | 2 | 190 | 0.0105 | -16 | c.963 others(35): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 117968553 | ATTTTTTT others(9): Show |
A | intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0149 | 1 | 190 | 0.0053 | -16 | c.963 others(37): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 118019246 | TGAAAGAA others(9): Show |
T | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0068 | a0001c0001t0068g0189 | 1 | 190 | 0.0053 | -16 | c.962 others(35): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 118041665 | AGAAGGAA others(9): Show |
A | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0088 | 1 | 190 | 0.0053 | -16 | c.962 others(35): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar |