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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ELMO2_chr20_46361050_46411615 | 46411195 | C | CGGGTGTG others(21): Show |
upstream_gene_variant | MODIFIER | HG02809.hp1 NA18975.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0095 | 2 | 312 | 0.0064 | 28 | c.-47 others(39): Show |
ELMO2 | ENSG00000062598.18 | transcript | ENST00000290246.11 | protein_coding | 4581 | chr20 | TogoVar | ||||||
ELOA_chr1_23738471_23767059 | 23758247 | A | ATTTTTTT others(21): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 400 | 0.0025 | 28 | c.225 others(47): Show |
ELOA | ENSG00000011007.13 | transcript | ENST00000613537.5 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ELOVL2_chr6_10975759_11049305 | 10978305 | A | ATATATAT others(21): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 380 | 0.0026 | 28 | c.*54 others(39): Show |
ELOVL2 | ENSG00000197977.4 | transcript | ENST00000354666.4 | protein_coding | 2453 | chr6 | TogoVar | ||||||
ELOVL2_chr6_10975759_11049305 | 10978306 | T | TATATATA others(21): Show |
downstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0004 | 1 | 380 | 0.0026 | 28 | c.*54 others(39): Show |
ELOVL2 | ENSG00000197977.4 | transcript | ENST00000354666.4 | protein_coding | 2452 | chr6 | TogoVar | ||||||
ELOVL2_chr6_10975759_11049305 | 11043467 | A | AACACACA others(21): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01975.hp1 HG01978.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0011 | a0001c0001t0001g0071a0001c0001t0001g0072a0001c0001t0001g0073others(11): Show | 14 | 380 | 0.0368 | 28 | c.3+7 others(39): Show |
ELOVL2 | ENSG00000197977.4 | transcript | ENST00000354666.4 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
ELOVL6_chr4_110040846_110203615 | 110084435 | T | TATATGAT others(21): Show |
intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0053 | 1 | 338 | 0.0030 | 28 | c.221 others(47): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | ||||||
ELOVL6_chr4_110040846_110203615 | 110084563 | G | GATATATA others(21): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275 | 1 | 338 | 0.0030 | 28 | c.221 others(47): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | ||||||
ELOVL6_chr4_110040846_110203615 | 110117903 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0026 | 1 | 338 | 0.0030 | 28 | c.90- others(45): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | ||||||
ELOVL6_chr4_110040846_110203615 | 110117903 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0330 | 1 | 338 | 0.0030 | 28 | c.90- others(45): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | ||||||
ELOVL6_chr4_110040846_110203615 | 110158635 | G | GTATATAT others(21): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 338 | 0.0030 | 28 | c.89+ others(45): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | ||||||
ELP4_chr11_31504767_31795324 | 31668675 | C | CATGTGTG others(21): Show |
intron_variant | MODIFIER | HG02717.hp2 NA18954.hp1 NA18987.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0025 | a0001c0001t0008g0216a0001c0001t0025g0155a0001c0001t0025g0224 | 3 | 270 | 0.0111 | 28 | c.114 others(49): Show |
ELP4 | ENSG00000109911.19 | transcript | ENST00000640961.2 | protein_coding | 9/9 | chr11 | TogoVar | ||||||
ELP4_chr11_31504767_31795324 | 31731567 | G | GGTGTGTG others(21): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0257 | 1 | 270 | 0.0037 | 28 | c.114 others(49): Show |
ELP4 | ENSG00000109911.19 | transcript | ENST00000640961.2 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ELSPBP1_chr19_47989632_48030154 | 48028497 | C | CTTTTTTT others(21): Show |
downstream_gene_variant | MODIFIER | HG01258.hp2 NA18977.hp2 NA18995.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0047a0002c0002t0001g0053a0002c0002t0001g0076 | 3 | 388 | 0.0077 | 28 | c.*35 others(39): Show |
ELSPBP1 | ENSG00000169393.10 | transcript | ENST00000339841.7 | protein_coding | 3344 | chr19 | TogoVar | ||||||
EMC10_chr19_50471507_50495871 | 50472243 | T | TTATATAT others(21): Show |
upstream_gene_variant | MODIFIER | HG01070.hp1 HG02074.hp2 NA18964.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0007 | a0001c0002t0002g0003a0001c0002t0002g0009a0001c0002t0007g0003 | 3 | 352 | 0.0085 | 28 | c.-43 others(39): Show |
EMC10 | ENSG00000161671.17 | transcript | ENST00000334976.11 | protein_coding | 4263 | chr19 | TogoVar | ||||||
EMC10_chr19_50471507_50495871 | 50492036 | C | CGGGGAGA others(21): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 HG03540.hp1 |
a0001 | a0001c0002 | a0001c0002t0057a0001c0002t0061 | a0001c0002t0057g0015a0001c0002t0061g0032 | 2 | 352 | 0.0057 | 28 | c.*97 others(39): Show |
EMC10 | ENSG00000161671.17 | transcript | ENST00000334976.11 | protein_coding | 1166 | chr19 | TogoVar | ||||||
EMC7_chr15_34079017_34106862 | 34093806 | C | CACACACA others(21): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01175.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0262a0001c0001t0001g0268 | 2 | 410 | 0.0049 | 28 | c.356 others(45): Show |
EMC7 | ENSG00000134153.10 | transcript | ENST00000256545.9 | protein_coding | 2/4 | chr15 | TogoVar | ||||||
EMC7_chr15_34079017_34106862 | 34093806 | C | CACACACA others(21): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 | 1 | 410 | 0.0024 | 28 | c.356 others(45): Show |
EMC7 | ENSG00000134153.10 | transcript | ENST00000256545.9 | protein_coding | 2/4 | chr15 | TogoVar | ||||||
EMC7_chr15_34079017_34106862 | 34093806 | C | CACACACA others(21): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03098.hp1 HG03195.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0041a0001c0001t0001g0324a0001c0002t0001g0046 | 4 | 410 | 0.0098 | 28 | c.356 others(45): Show |
EMC7 | ENSG00000134153.10 | transcript | ENST00000256545.9 | protein_coding | 2/4 | chr15 | TogoVar | ||||||
EMCN_chr4_100390341_100523022 | 100448795 | T | TTTTCTTT others(21): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02148.hp2 HG02615.hp2 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0004a0002c0002t0001a0003c0003t0036 | a0001c0001t0004g0004a0001c0001t0004g0251a0002c0002t0001g0042others(1): Show | 5 | 262 | 0.0191 | 28 | c.377 others(45): Show |
EMCN | ENSG00000164035.10 | transcript | ENST00000296420.9 | protein_coding | 4/11 | chr4 | TogoVar | ||||||
EMCN_chr4_100390341_100523022 | 100448795 | T | TTTTCTTT others(21): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02886.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0011a0001c0001t0015 | a0001c0001t0005g0183a0001c0001t0005g0187a0001c0001t0005g0244others(4): Show | 7 | 262 | 0.0267 | 28 | c.377 others(45): Show |
EMCN | ENSG00000164035.10 | transcript | ENST00000296420.9 | protein_coding | 4/11 | chr4 | TogoVar | ||||||
EMILIN2_chr18_2842006_2921003 | 2858569 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0003 | a0003c0010 | a0003c0010t0007 | a0003c0010t0007g0007 | 1 | 452 | 0.0022 | 28 | c.257 others(47): Show |
EMILIN2 | ENSG00000132205.11 | transcript | ENST00000254528.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
EMILIN2_chr18_2842006_2921003 | 2858583 | G | GTGTGTGT others(21): Show |
intron_variant | MODIFIER | HG03130.hp2 HG03486.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0007a0001c0004t0005 | a0001c0001t0007g0067a0001c0004t0005g0066 | 2 | 452 | 0.0044 | 28 | c.257 others(47): Show |
EMILIN2 | ENSG00000132205.11 | transcript | ENST00000254528.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
EMILIN2_chr18_2842006_2921003 | 2858583 | G | GTGTGTGT others(21): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0065 | 1 | 452 | 0.0022 | 28 | c.257 others(47): Show |
EMILIN2 | ENSG00000132205.11 | transcript | ENST00000254528.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
EMILIN2_chr18_2842006_2921003 | 2858583 | G | GTGTGTGT others(21): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038 | 1 | 452 | 0.0022 | 28 | c.257 others(47): Show |
EMILIN2 | ENSG00000132205.11 | transcript | ENST00000254528.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
EMILIN2_chr18_2842006_2921003 | 2858583 | G | GTGTGTGT others(21): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0020 | a0020c0030 | a0020c0030t0004 | a0020c0030t0004g0438 | 1 | 452 | 0.0022 | 28 | c.257 others(47): Show |
EMILIN2 | ENSG00000132205.11 | transcript | ENST00000254528.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
EML1_chr14_99788413_99947060 | 99826105 | A | ATTTTTTT others(21): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0255 | 1 | 288 | 0.0035 | 28 | c.68- others(45): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
EML1_chr14_99788413_99947060 | 99838918 | C | CGCGCGCG others(21): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0021 | 1 | 288 | 0.0035 | 28 | c.68- others(45): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
EML1_chr14_99788413_99947060 | 99838918 | C | CGCGCGCG others(21): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0066 | 1 | 288 | 0.0035 | 28 | c.68- others(45): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
EML4_chr2_42164353_42337548 | 42245090 | C | CTTTTTTT others(21): Show |
intron_variant | MODIFIER | NA18940.hp2 NA18955.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0222a0001c0001t0006g0263 | 2 | 358 | 0.0056 | 28 | c.26- others(41): Show |
EML4 | ENSG00000143924.19 | transcript | ENST00000318522.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML4_chr2_42164353_42337548 | 42245094 | C | CTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG02145.hp2 HG03704.hp2 NA20300.hp1 |
a0001a0003 | a0001c0001a0001c0005a0003c0003 | a0001c0001t0006a0001c0005t0003a0003c0003t0002 | a0001c0001t0006g0299a0001c0005t0003g0337a0003c0003t0002g0233 | 3 | 358 | 0.0084 | 28 | c.26- others(41): Show |
EML4 | ENSG00000143924.19 | transcript | ENST00000318522.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML4_chr2_42164353_42337548 | 42325602 | T | TTATATAT others(21): Show |
intron_variant | MODIFIER | HG01109.hp2 NA18952.hp2 NA18966.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0002a0003c0003t0004 | a0001c0001t0002g0191a0003c0003t0002g0286a0003c0003t0004g0227others(1): Show | 4 | 358 | 0.0112 | 28 | c.224 others(43): Show |
EML4 | ENSG00000143924.19 | transcript | ENST00000318522.10 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML4_chr2_42164353_42337548 | 42325602 | T | TTATATTT others(21): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0207 | 1 | 358 | 0.0028 | 28 | c.224 others(43): Show |
EML4 | ENSG00000143924.19 | transcript | ENST00000318522.10 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML5_chr14_88607431_88797953 | 88745167 | T | TTGTTTGT others(21): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0216 | 1 | 332 | 0.0030 | 28 | c.456 others(45): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 3/43 | chr14 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54823850 | T | TTCTCTCT others(21): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01074.hp1 HG01081.hp2 others(3): Show |
a0001a0008 | a0001c0001a0001c0003a0008c0033 | a0001c0001t0003a0001c0001t0005a0001c0001t0019others(2): Show | a0001c0001t0003g0137a0001c0001t0005g0215a0001c0001t0019g0168others(3): Show | 6 | 264 | 0.0227 | 28 | c.525 others(45): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 5/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54823868 | C | CTCTCTCT others(21): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0059 | 1 | 264 | 0.0038 | 28 | c.525 others(45): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 5/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54823870 | C | CTCTCTCT others(21): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0157 | 1 | 264 | 0.0038 | 28 | c.525 others(45): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 5/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54848524 | T | TACACACA others(21): Show |
intron_variant | MODIFIER | NA18950.hp1 NA18963.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0192a0001c0003t0002g0193 | 2 | 264 | 0.0076 | 28 | c.118 others(45): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 9/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54882857 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG01975.hp1 HG02145.hp2 HG03491.hp2 others(2): Show |
a0001a0009 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0002others(2): Show | a0001c0001t0001g0179a0001c0002t0001g0236a0001c0003t0002g0156others(2): Show | 5 | 264 | 0.0189 | 28 | c.243 others(47): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 17/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54961184 | G | GTTGTTTT others(21): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0027 | 1 | 264 | 0.0038 | 28 | c.496 others(45): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 35/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54961184 | G | GTTGTTTT others(21): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG01243.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0021others(4): Show | a0001c0001t0001g0178a0001c0001t0001g0179a0001c0001t0005g0012others(8): Show | 11 | 264 | 0.0417 | 28 | c.496 others(45): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 35/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54961184 | G | GTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0029 | a0001c0029t0001 | a0001c0029t0001g0057 | 1 | 264 | 0.0038 | 28 | c.496 others(45): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 35/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EMP2_chr16_10523422_10585598 | 10575237 | C | CTTTTTTT others(21): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0058 | 1 | 402 | 0.0025 | 28 | c.-61 others(45): Show |
EMP2 | ENSG00000213853.10 | transcript | ENST00000359543.8 | protein_coding | 1/4 | chr16 | TogoVar | ||||||
EMSY_chr11_76440018_76558031 | 76446321 | G | GTATATAT others(21): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0319 | 1 | 360 | 0.0028 | 28 | c.-39 others(43): Show |
EMSY | ENSG00000158636.17 | transcript | ENST00000695367.1 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ENKUR_chr10_24976985_25021158 | 24997807 | T | TTATATAT others(21): Show |
intron_variant | MODIFIER | HG03195.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0056 | 2 | 384 | 0.0052 | 28 | c.223 others(45): Show |
ENKUR | ENSG00000151023.17 | transcript | ENST00000331161.9 | protein_coding | 2/5 | chr10 | TogoVar | ||||||
ENKUR_chr10_24976985_25021158 | 25020276 | A | ATATCTAT others(21): Show |
upstream_gene_variant | MODIFIER | HG02738.hp1 HG03927.hp1 HG04199.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013 | a0001c0001t0002g0005a0001c0001t0002g0009a0001c0001t0013g0021 | 4 | 384 | 0.0104 | 28 | c.-43 others(39): Show |
ENKUR | ENSG00000151023.17 | transcript | ENST00000331161.9 | protein_coding | 4119 | chr10 | TogoVar | ||||||
ENOSF1_chr18_665318_717630 | 667456 | A | ATGGAGAT others(21): Show |
downstream_gene_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0031 | 1 | 418 | 0.0024 | 28 | c.*68 others(39): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 2861 | chr18 | TogoVar | ||||||
ENOX1_chr13_43208130_43791972 | 43247883 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0149 | 1 | 188 | 0.0053 | 28 | c.161 others(49): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 14/16 | chr13 | TogoVar | ||||||
ENOX1_chr13_43208130_43791972 | 43541173 | G | GTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0124 | 1 | 188 | 0.0053 | 28 | c.-21 others(49): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 2/16 | chr13 | TogoVar | ||||||
ENOX1_chr13_43208130_43791972 | 43616204 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0007 | a0002c0007t0003 | a0002c0007t0003g0015 | 1 | 188 | 0.0053 | 28 | c.-21 others(49): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 2/16 | chr13 | TogoVar | ||||||
ENOX1_chr13_43208130_43791972 | 43754051 | T | TATATACA others(21): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(114): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0080a0001c0001t0001g0098a0001c0001t0002g0006others(114): Show | 117 | 188 | 0.6223 | 28 | c.-28 others(49): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 1/16 | chr13 | TogoVar |