view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ELOVL6_chr4_110040846_110203615 | 110090600 | C | CTTTTTTG others(11): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02148.hp1 HG02809.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008a0001c0001t0015 | a0001c0001t0004g0020 a0001c0001t0008g0009 a0001c0001t0008g0028 others(1): Show |
4 | 338 | 0.0118 | 18 | c.221 others(37): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110094438 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0145 | 1 | 338 | 0.0030 | 18 | c.221 others(37): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110117899 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 338 | 0.0030 | 18 | c.90- others(35): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110117901 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01168.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0295 a0001c0001t0009g0073 |
2 | 338 | 0.0059 | 18 | c.90- others(35): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110117903 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02895.hp1 HG02896.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0009 | a0001c0001t0007g0013 a0001c0001t0009g0019 a0001c0001t0009g0021 others(1): Show |
4 | 338 | 0.0118 | 18 | c.90- others(35): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110117903 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG03239.hp1 HG03927.hp2 NA18981.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008a0001c0001t0063 | a0001c0001t0006g0088 a0001c0001t0008g0235 a0001c0001t0063g0335 |
3 | 338 | 0.0089 | 18 | c.90- others(35): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110117903 | A | AAAAAATA others(11): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01106.hp1 HG01515.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(2): Show | a0001c0001t0001g0036 a0001c0001t0001g0210 a0001c0001t0001g0319 others(7): Show |
10 | 338 | 0.0296 | 18 | c.90- others(35): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110117903 | A | AAAATATA others(11): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01069.hp1 HG01168.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0023 | a0001c0001t0001g0146 a0001c0001t0001g0168 a0001c0001t0008g0219 others(1): Show |
4 | 338 | 0.0118 | 18 | c.90- others(35): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110117903 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 338 | 0.0030 | 18 | c.90- others(35): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110117924 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00609.hp1 HG01074.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0155 a0001c0001t0001g0234 a0001c0001t0001g0275 others(8): Show |
11 | 338 | 0.0325 | 18 | c.90- others(35): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110117924 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0293 | 1 | 338 | 0.0030 | 18 | c.90- others(35): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110141855 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG00323.hp2 HG02004.hp2 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0081 | a0001c0001t0001g0260 a0001c0001t0002g0159 a0001c0001t0081g0068 |
3 | 338 | 0.0089 | 18 | c.90- others(35): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110158635 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0338 | 1 | 338 | 0.0030 | 18 | c.89+ others(35): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110158657 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0098 | 1 | 338 | 0.0030 | 18 | c.89+ others(35): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110158657 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG01243.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0060 | a0001c0001t0001g0232 a0001c0001t0002g0240 a0001c0001t0002g0301 others(1): Show |
4 | 338 | 0.0118 | 18 | c.89+ others(35): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
ELP2_chr18_36124899_36185557 | 36163273 | G | GGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG00738.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0023 | a0002c0002t0003g0299 a0002c0002t0003g0301 a0002c0002t0003g0311 others(2): Show |
5 | 378 | 0.0132 | 18 | c.176 others(37): Show |
ELP2 | ENSG00000134759.14 | transcript | ENST00000358232.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ELP2_chr18_36124899_36185557 | 36163275 | G | GGTGTGTG others(11): Show |
intron_variant | MODIFIER | NA18964.hp2 NA19067.hp1 NA19068.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0007a0002c0002t0025others(1): Show | a0002c0002t0003g0312 a0002c0002t0007g0014 a0002c0002t0025g0014 others(2): Show |
5 | 378 | 0.0132 | 18 | c.176 others(37): Show |
ELP2 | ENSG00000134759.14 | transcript | ENST00000358232.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ELP4_chr11_31504767_31795324 | 31533368 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02280.hp1 HG03831.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0017 | a0001c0001t0001g0058 a0001c0001t0001g0074 a0001c0001t0007g0045 others(1): Show |
4 | 270 | 0.0148 | 18 | c.260 others(35): Show |
ELP4 | ENSG00000109911.19 | transcript | ENST00000640961.2 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ELP4_chr11_31504767_31795324 | 31553725 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0014 | 1 | 270 | 0.0037 | 18 | c.381 others(37): Show |
ELP4 | ENSG00000109911.19 | transcript | ENST00000640961.2 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ELP4_chr11_31504767_31795324 | 31593227 | C | CTGTTGTT others(11): Show |
intron_variant | MODIFIER | HG01081.hp2 NA19063.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 a0001c0001t0001g0079 |
2 | 270 | 0.0074 | 18 | c.382 others(35): Show |
ELP4 | ENSG00000109911.19 | transcript | ENST00000640961.2 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ELP4_chr11_31504767_31795324 | 31623390 | T | TATATAAA others(11): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02647.hp1 HG03209.hp2 others(1): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0006 | a0001c0001t0004a0001c0001t0027a0001c0002t0024others(1): Show | a0001c0001t0004g0071 a0001c0001t0027g0050 a0001c0002t0024g0244 others(1): Show |
4 | 270 | 0.0148 | 18 | c.654 others(35): Show |
ELP4 | ENSG00000109911.19 | transcript | ENST00000640961.2 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ELP4_chr11_31504767_31795324 | 31668675 | C | CATGTGTG others(11): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01169.hp2 HG01261.hp1 others(13): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(7): Show | a0001c0001t0001g0003 a0001c0001t0001g0118 a0001c0001t0001g0128 others(13): Show |
16 | 270 | 0.0593 | 18 | c.114 others(39): Show |
ELP4 | ENSG00000109911.19 | transcript | ENST00000640961.2 | protein_coding | 9/9 | chr11 | TogoVar | |||||||
ELP4_chr11_31504767_31795324 | 31731567 | G | GGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG03195.hp2 HG03453.hp2 NA18971.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0026a0001c0001t0079 | a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0026g0252 others(1): Show |
4 | 270 | 0.0148 | 18 | c.114 others(39): Show |
ELP4 | ENSG00000109911.19 | transcript | ENST00000640961.2 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ELP6_chr3_47490640_47518712 | 47514055 | T | TTTATTAT others(11): Show |
upstream_gene_variant | MODIFIER | NA18987.hp1 NA18987.hp2 NA19006.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0158 a0001c0001t0002g0085 |
3 | 374 | 0.0080 | 18 | c.-46 others(27): Show |
ELP6 | ENSG00000163832.16 | transcript | ENST00000296149.9 | protein_coding | 344 | chr3 | TogoVar | |||||||
ELSPBP1_chr19_47989632_48030154 | 48029794 | C | CAGAGAGA others(11): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0022 | 1 | 388 | 0.0026 | 18 | c.*48 others(29): Show |
ELSPBP1 | ENSG00000169393.10 | transcript | ENST00000339841.7 | protein_coding | 4641 | chr19 | TogoVar | |||||||
ELSPBP1_chr19_47989632_48030154 | 48029798 | C | CAGAGAGA others(11): Show |
downstream_gene_variant | MODIFIER | HG01070.hp1 HG01516.hp1 HG02818.hp1 others(3): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0317 a0001c0001t0002g0159 a0001c0001t0002g0182 others(3): Show |
6 | 388 | 0.0155 | 18 | c.*48 others(29): Show |
ELSPBP1 | ENSG00000169393.10 | transcript | ENST00000339841.7 | protein_coding | 4645 | chr19 | TogoVar | |||||||
EMB_chr5_50391192_50446288 | 50419536 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02080.hp2 NA19055.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0020 a0001c0001t0003g0133 a0001c0001t0003g0174 others(1): Show |
5 | 346 | 0.0145 | 18 | c.197 others(35): Show |
EMB | ENSG00000170571.12 | transcript | ENST00000303221.10 | protein_coding | 2/8 | chr5 | TogoVar | |||||||
EMC2_chr8_108438624_108494196 | 108459721 | A | AGAGAGAG others(11): Show |
intron_variant | MODIFIER | HG02896.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0040 | 2 | 364 | 0.0055 | 18 | c.363 others(35): Show |
EMC2 | ENSG00000104412.8 | transcript | ENST00000220853.8 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
EMC2_chr8_108438624_108494196 | 108459721 | A | AGAGAGAG others(11): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0186 | 1 | 364 | 0.0028 | 18 | c.363 others(35): Show |
EMC2 | ENSG00000104412.8 | transcript | ENST00000220853.8 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
EMC2_chr8_108438624_108494196 | 108462213 | T | TTGTGTGC others(11): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0053 | 1 | 364 | 0.0028 | 18 | c.363 others(35): Show |
EMC2 | ENSG00000104412.8 | transcript | ENST00000220853.8 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
EMC2_chr8_108438624_108494196 | 108462222 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0124 | 1 | 364 | 0.0028 | 18 | c.363 others(35): Show |
EMC2 | ENSG00000104412.8 | transcript | ENST00000220853.8 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
EMC3_chr3_9957682_9991841 | 9963450 | G | GATAGATA others(11): Show |
3_prime_UTR_variant | MODIFIER | HG00741.hp2 HG01081.hp1 HG02273.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0032a0001c0001t0055 | a0001c0001t0026g0031 a0001c0001t0026g0057 a0001c0001t0026g0060 others(3): Show |
6 | 322 | 0.0186 | 18 | c.*61 others(27): Show |
EMC3 | ENSG00000125037.13 | transcript | ENST00000245046.7 | protein_coding | 8/8 | 618 | chr3 | TogoVar | ||||||
EMC7_chr15_34079017_34106862 | 34081709 | A | ATTTTTTT others(11): Show |
downstream_gene_variant | MODIFIER | NA18957.hp1 NA18960.hp1 NA18964.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 a0001c0001t0001g0098 a0001c0001t0001g0099 others(1): Show |
4 | 410 | 0.0098 | 18 | c.*26 others(29): Show |
EMC7 | ENSG00000134153.10 | transcript | ENST00000256545.9 | protein_coding | 2307 | chr15 | TogoVar | |||||||
EMC7_chr15_34079017_34106862 | 34092261 | T | TCACACAC others(11): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01106.hp1 HG01256.hp1 others(27): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0007 a0001c0001t0001g0067 a0001c0001t0001g0068 others(24): Show |
30 | 410 | 0.0732 | 18 | c.357 others(35): Show |
EMC7 | ENSG00000134153.10 | transcript | ENST00000256545.9 | protein_coding | 2/4 | chr15 | TogoVar | |||||||
EMC7_chr15_34079017_34106862 | 34093782 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG02897.hp2 HG03540.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0203 a0001c0006t0001g0331 |
2 | 410 | 0.0049 | 18 | c.356 others(35): Show |
EMC7 | ENSG00000134153.10 | transcript | ENST00000256545.9 | protein_coding | 2/4 | chr15 | TogoVar | |||||||
EMC7_chr15_34079017_34106862 | 34093806 | C | CACACACA others(11): Show |
intron_variant | MODIFIER | NA19075.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0263 | 1 | 410 | 0.0024 | 18 | c.356 others(35): Show |
EMC7 | ENSG00000134153.10 | transcript | ENST00000256545.9 | protein_coding | 2/4 | chr15 | TogoVar | |||||||
EMC7_chr15_34079017_34106862 | 34093806 | C | CACACACA others(11): Show |
intron_variant | MODIFIER | HG02083.hp2 HG02280.hp2 HG02572.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0194 a0001c0001t0001g0265 a0001c0001t0001g0307 others(2): Show |
5 | 410 | 0.0122 | 18 | c.356 others(35): Show |
EMC7 | ENSG00000134153.10 | transcript | ENST00000256545.9 | protein_coding | 2/4 | chr15 | TogoVar | |||||||
EMC7_chr15_34079017_34106862 | 34093806 | C | CACACACA others(11): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01261.hp2 HG01433.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 a0001c0001t0001g0066 a0001c0001t0001g0096 others(4): Show |
8 | 410 | 0.0195 | 18 | c.356 others(35): Show |
EMC7 | ENSG00000134153.10 | transcript | ENST00000256545.9 | protein_coding | 2/4 | chr15 | TogoVar | |||||||
EMC7_chr15_34079017_34106862 | 34093806 | C | CACACACA others(11): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00642.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0026 a0001c0001t0001g0079 a0001c0001t0001g0126 others(8): Show |
12 | 410 | 0.0293 | 18 | c.356 others(35): Show |
EMC7 | ENSG00000134153.10 | transcript | ENST00000256545.9 | protein_coding | 2/4 | chr15 | TogoVar | |||||||
EMC7_chr15_34079017_34106862 | 34093806 | C | CACACACA others(11): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0091 | 1 | 410 | 0.0024 | 18 | c.356 others(35): Show |
EMC7 | ENSG00000134153.10 | transcript | ENST00000256545.9 | protein_coding | 2/4 | chr15 | TogoVar | |||||||
EMC7_chr15_34079017_34106862 | 34093806 | C | CACACACA others(11): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01255.hp2 HG01978.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 a0001c0001t0001g0137 a0001c0001t0001g0172 others(1): Show |
5 | 410 | 0.0122 | 18 | c.356 others(35): Show |
EMC7 | ENSG00000134153.10 | transcript | ENST00000256545.9 | protein_coding | 2/4 | chr15 | TogoVar | |||||||
EMC9_chr14_24133965_24146591 | 24135105 | A | AACACACA others(11): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 HG02015.hp2 HG02109.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0009 others(3): Show |
10 | 422 | 0.0237 | 18 | c.*39 others(29): Show |
EMC9 | ENSG00000100908.14 | transcript | ENST00000216799.9 | protein_coding | 3859 | chr14 | TogoVar | |||||||
EMCN_chr4_100390341_100523022 | 100425149 | G | GCACACAC others(11): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03017.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006 | a0001c0001t0005g0187 a0001c0001t0006g0151 |
2 | 262 | 0.0076 | 18 | c.416 others(35): Show |
EMCN | ENSG00000164035.10 | transcript | ENST00000296420.9 | protein_coding | 5/11 | chr4 | TogoVar | |||||||
EMD_chrX_154374295_154386523 | 154380194 | C | CACCGATG others(11): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01993.hp1 NA18988.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 4 | 284 | 0.0141 | 18 | c.266 others(31): Show |
EMD | ENSG00000102119.12 | transcript | ENST00000369842.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EMILIN2_chr18_2842006_2921003 | 2858583 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02895.hp1 HG03041.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0005a0001c0001t0015a0001c0001t0038others(1): Show | a0001c0001t0005g0257 a0001c0001t0015g0213 a0001c0001t0038g0214 others(1): Show |
4 | 452 | 0.0089 | 18 | c.257 others(37): Show |
EMILIN2 | ENSG00000132205.11 | transcript | ENST00000254528.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
EMILIN2_chr18_2842006_2921003 | 2868791 | A | AGGAGAGG others(11): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01433.hp1 HG01928.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0047a0001c0001t0048a0001c0002t0045others(4): Show | a0001c0001t0047g0442 a0001c0001t0048g0443 a0001c0002t0045g0444 others(5): Show |
8 | 452 | 0.0177 | 18 | c.258 others(37): Show |
EMILIN2 | ENSG00000132205.11 | transcript | ENST00000254528.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
EMILIN2_chr18_2842006_2921003 | 2883227 | G | GATGTCAA others(11): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(233): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0002a0001c0003others(38): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(121): Show | a0001c0001t0001g0112 a0001c0001t0001g0233 a0001c0001t0001g0239 others(231): Show |
236 | 452 | 0.5221 | 18 | c.258 others(35): Show |
EMILIN2 | ENSG00000132205.11 | transcript | ENST00000254528.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
EMILIN2_chr18_2842006_2921003 | 2911889 | T | TGGTGCTG others(11): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00741.hp1 HG01106.hp2 others(17): Show |
a0001a0003a0021 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0001t0015a0001c0001t0065others(7): Show | a0001c0001t0002g0245 a0001c0001t0002g0348 a0001c0001t0002g0362 others(17): Show |
20 | 452 | 0.0443 | 18 | c.282 others(37): Show |
EMILIN2 | ENSG00000132205.11 | transcript | ENST00000254528.4 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
EML1_chr14_99788413_99947060 | 99796186 | C | CAGAGAGA others(11): Show |
intron_variant | MODIFIER | HG00323.hp1 HG02970.hp2 NA18952.hp1 |
a0001a0002 | a0001c0003a0001c0004a0002c0001 | a0001c0003t0004a0001c0004t0001a0002c0001t0003 | a0001c0003t0004g0141 a0001c0004t0001g0143 a0002c0001t0003g0142 |
3 | 288 | 0.0104 | 18 | c.67+ others(33): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EML1_chr14_99788413_99947060 | 99838918 | C | CGCGCGTG others(11): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0278 | 1 | 288 | 0.0035 | 18 | c.68- others(35): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |