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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ELOVL7_chr5_60746791_60849269 | 60795975 | TAAGAACA | T | intron_variant | MODIFIER | HG01175.hp2 HG02735.hp1 HG03098.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0023 | a0001c0001t0006g0145a0001c0001t0006g0165a0001c0001t0006g0204others(1): Show | 4 | 258 | 0.0155 | -7 | c.-35 others(24): Show |
ELOVL7 | ENSG00000164181.14 | transcript | ENST00000508821.6 | protein_coding | 2/8 | chr5 | TogoVar | ||||||
ELOVL7_chr5_60746791_60849269 | 60800030 | CAAAAAAA | C | intron_variant | MODIFIER | HG01884.hp1 HG02132.hp2 HG02273.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0070a0001c0001t0001g0151a0001c0001t0002g0206others(4): Show | 7 | 258 | 0.0271 | -7 | c.-85 others(22): Show |
ELOVL7 | ENSG00000164181.14 | transcript | ENST00000508821.6 | protein_coding | 1/8 | chr5 | TogoVar | ||||||
ELP1_chr9_108862517_108939124 | 108872803 | TGAAAAAA | T | intron_variant | MODIFIER | HG00280.hp1 HG01070.hp2 HG02015.hp2 others(18): Show |
a0002a0003a0017others(1): Show | a0002c0003a0002c0034a0003c0004others(2): Show | a0002c0003t0001a0002c0003t0007a0002c0003t0013others(4): Show | a0002c0003t0001g0005a0002c0003t0001g0007a0002c0003t0001g0029others(16): Show | 21 | 416 | 0.0505 | -7 | c.393 others(26): Show |
ELP1 | ENSG00000070061.16 | transcript | ENST00000374647.10 | protein_coding | 36/36 | chr9 | TogoVar | ||||||
ELP3_chr8_28088139_28196153 | 28106539 | CAAAAAAA | C | intron_variant | MODIFIER | HG00733.hp1 HG02109.hp1 HG02109.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(8): Show | 14 | 398 | 0.0352 | -7 | c.259 others(22): Show |
ELP3 | ENSG00000134014.18 | transcript | ENST00000256398.13 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ELP3_chr8_28088139_28196153 | 28158485 | AAATAAAG | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(184): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0014a0001c0001t0001g0015others(169): Show | 187 | 398 | 0.4699 | -7 | c.119 others(22): Show |
ELP3 | ENSG00000134014.18 | transcript | ENST00000256398.13 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ELP4_chr11_31504767_31795324 | 31561436 | ATTATTTT | A | intron_variant | MODIFIER | HG00323.hp2 HG00621.hp1 HG01071.hp1 others(48): Show |
a0001a0006 | a0001c0001a0006c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(12): Show | a0001c0001t0001g0004a0001c0001t0001g0016a0001c0001t0001g0018others(48): Show | 51 | 270 | 0.1889 | -7 | c.381 others(26): Show |
ELP4 | ENSG00000109911.19 | transcript | ENST00000640961.2 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ELP4_chr11_31504767_31795324 | 31634630 | AGATAACT | A | intron_variant | MODIFIER | HG00323.hp2 HG00621.hp1 HG01071.hp1 others(83): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(25): Show | a0001c0001t0001g0004a0001c0001t0001g0016a0001c0001t0001g0018others(83): Show | 86 | 270 | 0.3185 | -7 | c.927 others(24): Show |
ELP4 | ENSG00000109911.19 | transcript | ENST00000640961.2 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
EMC10_chr19_50471507_50495871 | 50493072 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02572.hp1 HG02615.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0036a0001c0002t0040others(3): Show | a0001c0002t0004g0006a0001c0002t0036g0034a0001c0002t0040g0004others(4): Show | 8 | 352 | 0.0227 | -7 | c.*10 others(20): Show |
EMC10 | ENSG00000161671.17 | transcript | ENST00000334976.11 | protein_coding | 2202 | chr19 | TogoVar | ||||||
EMC3_chr3_9957682_9991841 | 9978145 | TAAAAAAA | T | intron_variant | MODIFIER | HG00735.hp1 HG01081.hp1 HG01981.hp2 others(12): Show |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(4): Show | a0001c0001t0002g0006a0001c0001t0002g0007a0001c0001t0002g0243others(9): Show | 15 | 322 | 0.0466 | -7 | c.156 others(22): Show |
EMC3 | ENSG00000125037.13 | transcript | ENST00000245046.7 | protein_coding | 1/7 | chr3 | TogoVar | ||||||
EMCN_chr4_100390341_100523022 | 100475659 | CTTTTTTT | C | intron_variant | MODIFIER | HG00639.hp1 HG00673.hp1 HG01255.hp2 others(15): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0012others(5): Show | a0001c0001t0002g0194a0001c0001t0006g0128a0001c0001t0006g0132others(15): Show | 18 | 262 | 0.0687 | -7 | c.188 others(22): Show |
EMCN | ENSG00000164035.10 | transcript | ENST00000296420.9 | protein_coding | 2/11 | chr4 | TogoVar | ||||||
EMD_chrX_154374295_154386523 | 154375871 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | NA18964.hp1 NA18964.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 284 | 0.0070 | -7 | c.-36 others(18): Show |
EMD | ENSG00000102119.12 | transcript | ENST00000369842.9 | protein_coding | 3423 | chrX | TogoVar | ||||||
EMID1_chr22_29200896_29264597 | 29207494 | CTCAGAAA | C | intron_variant | MODIFIER | HG02109.hp2 HG02647.hp1 HG02717.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0001a0001c0002t0004g0024a0001c0002t0004g0025others(2): Show | 6 | 348 | 0.0172 | -7 | c.101 others(24): Show |
EMID1 | ENSG00000186998.16 | transcript | ENST00000334018.11 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
EMILIN2_chr18_2842006_2921003 | 2849910 | CTTTTTTG | C | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG01891.hp2 others(24): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0016others(10): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0015others(18): Show | a0001c0001t0002g0038a0001c0001t0002g0040a0001c0001t0005g0257others(23): Show | 27 | 452 | 0.0597 | -7 | c.257 others(24): Show |
EMILIN2 | ENSG00000132205.11 | transcript | ENST00000254528.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
EMILIN2_chr18_2842006_2921003 | 2881424 | GGGCTCCA | G | intron_variant | MODIFIER | HG01891.hp1 HG02809.hp2 HG02976.hp2 others(5): Show |
a0001a0002a0016others(1): Show | a0001c0001a0001c0002a0001c0013others(3): Show | a0001c0001t0002a0001c0001t0037a0001c0001t0059others(5): Show | a0001c0001t0002g0040a0001c0001t0037g0426a0001c0001t0059g0210others(5): Show | 8 | 452 | 0.0177 | -7 | c.258 others(24): Show |
EMILIN2 | ENSG00000132205.11 | transcript | ENST00000254528.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
EML1_chr14_99788413_99947060 | 99889240 | GCAGCAGC | G | intron_variant | MODIFIER | HG01109.hp2 HG02109.hp2 HG02280.hp2 others(16): Show |
a0001a0006 | a0001c0003a0006c0011 | a0001c0003t0001a0001c0003t0005a0001c0003t0007others(1): Show | a0001c0003t0001g0012a0001c0003t0001g0080a0001c0003t0001g0167others(16): Show | 19 | 288 | 0.0660 | -7 | c.519 others(24): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 4/21 | chr14 | TogoVar | ||||||
EML1_chr14_99788413_99947060 | 99900181 | CTTTTTTT | C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(116): Show |
a0001a0003a0005others(1): Show | a0001c0003a0001c0005a0003c0002others(6): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0005others(23): Show | a0001c0003t0001g0006a0001c0003t0001g0012a0001c0003t0001g0080others(115): Show | 119 | 288 | 0.4132 | -7 | c.898 others(22): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
EML2_chr19_45604400_45644397 | 45635583 | CTTTTTTT | C | intron_variant | MODIFIER | HG00735.hp1 HG01069.hp2 HG01070.hp1 others(34): Show |
a0003a0005a0018 | a0003c0003a0005c0005a0018c0024 | a0003c0003t0001a0003c0003t0004a0003c0003t0007others(2): Show | a0003c0003t0001g0018a0003c0003t0001g0019a0003c0003t0001g0020others(28): Show | 37 | 382 | 0.0969 | -7 | c.180 others(24): Show |
EML2 | ENSG00000125746.18 | transcript | ENST00000245925.8 | protein_coding | 3/18 | chr19 | TogoVar | ||||||
EML4_chr2_42164353_42337548 | 42217853 | TCTAAATA | T | intron_variant | MODIFIER | HG02055.hp2 HG02257.hp1 HG02451.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0001a0001c0001t0007g0015a0001c0001t0007g0016 | 5 | 358 | 0.0140 | -7 | c.26- others(24): Show |
EML4 | ENSG00000143924.19 | transcript | ENST00000318522.10 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
EML4_chr2_42164353_42337548 | 42306484 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00609.hp1 others(83): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0005a0001c0010others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(14): Show | a0001c0001t0002g0187a0001c0001t0003g0119a0001c0001t0003g0120others(81): Show | 86 | 358 | 0.2402 | -7 | c.196 others(26): Show |
EML4 | ENSG00000143924.19 | transcript | ENST00000318522.10 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML5_chr14_88607431_88797953 | 88719327 | AGTGAGCT | A | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp1 others(101): Show |
a0001a0006a0008 | a0001c0001a0006c0008a0008c0011 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(9): Show | a0001c0001t0002g0001a0001c0001t0002g0002a0001c0001t0002g0086others(99): Show | 104 | 332 | 0.3133 | -7 | c.118 others(26): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 8/43 | chr14 | TogoVar | ||||||
EML5_chr14_88607431_88797953 | 88796592 | ATTATATG | A | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01256.hp2 HG01257.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0006a0002c0002t0007 | a0001c0001t0001g0283a0001c0001t0001g0290a0001c0001t0006g0003others(4): Show | 8 | 332 | 0.0241 | -7 | c.-40 others(18): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 3640 | chr14 | TogoVar | ||||||
EML5_chr14_88607431_88797953 | 88796670 | ATATTATG | A | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02280.hp2 HG02615.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0017a0001c0003t0004a0001c0003t0018others(1): Show | a0001c0001t0017g0010a0001c0003t0004g0310a0001c0003t0004g0311others(5): Show | 8 | 332 | 0.0241 | -7 | c.-41 others(18): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 3718 | chr14 | TogoVar | ||||||
EML5_chr14_88607431_88797953 | 88796803 | TTATATAC | T | upstream_gene_variant | MODIFIER | HG00438.hp1 NA18973.hp1 NA19043.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003 | a0002c0002t0001g0248a0002c0002t0001g0249a0002c0002t0003g0028 | 3 | 332 | 0.0090 | -7 | c.-43 others(18): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 3851 | chr14 | TogoVar | ||||||
EML5_chr14_88607431_88797953 | 88796853 | ATATATAT | A | upstream_gene_variant | MODIFIER | HG00642.hp1 HG00741.hp2 HG01099.hp2 others(34): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(7): Show | a0001c0001t0001g0210a0001c0001t0001g0211a0001c0001t0001g0280others(33): Show | 37 | 332 | 0.1115 | -7 | c.-43 others(18): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 3901 | chr14 | TogoVar | ||||||
EML5_chr14_88607431_88797953 | 88796885 | ATATATAT | A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(64): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0006a0001c0001t0022a0001c0001t0024others(10): Show | a0001c0001t0006g0208a0001c0001t0022g0203a0001c0001t0022g0204others(64): Show | 67 | 332 | 0.2018 | -7 | c.-43 others(18): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 3933 | chr14 | TogoVar | ||||||
EML5_chr14_88607431_88797953 | 88796983 | ATATATAT | A | upstream_gene_variant | MODIFIER | HG00642.hp2 HG02145.hp1 HG02717.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0026a0001c0001t0027 | a0001c0001t0014g0004a0001c0001t0014g0005a0001c0001t0014g0006others(4): Show | 7 | 332 | 0.0211 | -7 | c.-44 others(18): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 4031 | chr14 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54806612 | CAAAAAAA | C | intron_variant | MODIFIER | HG01978.hp1 HG04204.hp1 NA18948.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0004a0001c0004t0007others(1): Show | a0001c0001t0001g0147a0001c0002t0004g0066a0001c0002t0004g0075others(2): Show | 5 | 264 | 0.0189 | -7 | c.198 others(24): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54914557 | GAAGAGTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(224): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0002a0001c0003others(27): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(87): Show | a0001c0001t0001g0048a0001c0001t0001g0063a0001c0001t0001g0076others(224): Show | 227 | 264 | 0.8599 | -7 | c.349 others(26): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 25/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EMP2_chr16_10523422_10585598 | 10532758 | CTTTTTTT | C | 3_prime_UTR_variant | MODIFIER | NA18947.hp2 NA18963.hp2 NA18978.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0117 | a0001c0001t0013g0057a0001c0001t0013g0061a0001c0001t0013g0065others(4): Show | 7 | 402 | 0.0174 | -7 | c.*14 others(16): Show |
EMP2 | ENSG00000213853.10 | transcript | ENST00000359543.8 | protein_coding | 5/5 | 140 | chr16 | TogoVar | |||||
EMSY_chr11_76440018_76558031 | 76494654 | CCTTCCTT | C | intron_variant | MODIFIER | HG01358.hp1 HG01496.hp1 HG03491.hp2 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0015a0001c0002t0001g0027a0001c0002t0001g0035others(8): Show | 11 | 360 | 0.0306 | -7 | c.115 others(26): Show |
EMSY | ENSG00000158636.17 | transcript | ENST00000695367.1 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ENAH_chr1_225481829_225658123 | 225585215 | CAAAAAAA | C | intron_variant | MODIFIER | HG01074.hp2 HG01168.hp1 HG01169.hp1 others(26): Show |
a0001a0003 | a0001c0001a0001c0011a0003c0004 | a0001c0001t0003a0001c0001t0015a0001c0001t0017others(13): Show | a0001c0001t0003g0010a0001c0001t0003g0069a0001c0001t0003g0070others(26): Show | 29 | 308 | 0.0942 | -7 | c.6-1 others(22): Show |
ENAH | ENSG00000154380.19 | transcript | ENST00000366843.7 | protein_coding | 1/13 | chr1 | TogoVar | ||||||
ENAH_chr1_225481829_225658123 | 225590446 | AAAAAAAG | A | intron_variant | MODIFIER | HG01192.hp1 HG01257.hp1 HG01993.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0023a0001c0001t0054others(2): Show | a0001c0001t0011g0099a0001c0001t0023g0290a0001c0001t0054g0199others(2): Show | 5 | 308 | 0.0162 | -7 | c.6-2 others(22): Show |
ENAH | ENSG00000154380.19 | transcript | ENST00000366843.7 | protein_coding | 1/13 | chr1 | TogoVar | ||||||
ENAH_chr1_225481829_225658123 | 225604621 | CAAAAAAA | C | intron_variant | MODIFIER | HG00609.hp2 HG01074.hp1 HG01261.hp1 others(23): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0002a0001c0001t0011a0001c0001t0016others(5): Show | a0001c0001t0002g0017a0001c0001t0002g0090a0001c0001t0002g0091others(23): Show | 26 | 308 | 0.0844 | -7 | c.6-3 others(22): Show |
ENAH | ENSG00000154380.19 | transcript | ENST00000366843.7 | protein_coding | 1/13 | chr1 | TogoVar | ||||||
ENAH_chr1_225481829_225658123 | 225642026 | TAAAAATA | T | intron_variant | MODIFIER | HG00323.hp2 HG01071.hp1 HG01071.hp2 others(59): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(29): Show | a0001c0001t0001g0246a0001c0001t0003g0257a0001c0001t0003g0274others(59): Show | 62 | 308 | 0.2013 | -7 | c.5+1 others(22): Show |
ENAH | ENSG00000154380.19 | transcript | ENST00000366843.7 | protein_coding | 1/13 | chr1 | TogoVar | ||||||
ENDOD1_chr11_95084846_95137645 | 95136599 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG01106.hp1 others(66): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0013a0002c0002t0024others(2): Show | a0002c0002t0002g0004a0002c0002t0002g0014a0002c0002t0002g0016others(59): Show | 69 | 368 | 0.1875 | -7 | c.*70 others(18): Show |
ENDOD1 | ENSG00000149218.5 | transcript | ENST00000278505.5 | protein_coding | 3955 | chr11 | TogoVar | ||||||
ENG_chr9_127810016_127859658 | 127824512 | CTTTTTTT | C | intron_variant | MODIFIER | HG01891.hp1 HG02145.hp1 HG02486.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0047a0001c0001t0001g0048a0001c0001t0001g0111others(4): Show | 7 | 344 | 0.0204 | -7 | c.992 others(20): Show |
ENG | ENSG00000106991.14 | transcript | ENST00000373203.9 | protein_coding | 7/14 | chr9 | TogoVar | ||||||
ENG_chr9_127810016_127859658 | 127857245 | ACAAGACC | A | upstream_gene_variant | MODIFIER | HG02280.hp1 HG02622.hp1 HG02630.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0317a0001c0001t0001g0318a0001c0001t0001g0319others(3): Show | 6 | 344 | 0.0174 | -7 | c.-28 others(18): Show |
ENG | ENSG00000106991.14 | transcript | ENST00000373203.9 | protein_coding | 2588 | chr9 | TogoVar | ||||||
ENHO_chr9_34516043_34527990 | 34526690 | TCCCTCCC | T | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00673.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 19 | 416 | 0.0457 | -7 | c.-40 others(18): Show |
ENHO | ENSG00000168913.7 | transcript | ENST00000399775.3 | protein_coding | 3701 | chr9 | TogoVar | ||||||
ENO2_chr12_6909580_6928697 | 6913551 | GTTTGTTT | G | upstream_gene_variant | MODIFIER | HG02145.hp2 HG03225.hp2 HG03516.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0006 | a0001c0001t0003g0009a0001c0001t0003g0069a0001c0001t0004g0015others(1): Show | 6 | 376 | 0.0160 | -7 | c.-11 others(18): Show |
ENO2 | ENSG00000111674.9 | transcript | ENST00000229277.6 | protein_coding | 1028 | chr12 | TogoVar | ||||||
ENOSF1_chr18_665318_717630 | 666920 | GAGATGGT | G | downstream_gene_variant | MODIFIER | HG00323.hp2 HG01358.hp2 HG01975.hp1 others(46): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0007others(2): Show | a0001c0001t0002a0001c0001t0017a0002c0002t0002others(3): Show | a0001c0001t0002g0001a0001c0001t0002g0004a0001c0001t0002g0015others(46): Show | 49 | 418 | 0.1172 | -7 | c.*73 others(18): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 3397 | chr18 | TogoVar | ||||||
ENOSF1_chr18_665318_717630 | 667166 | GTGATGGT | G | downstream_gene_variant | MODIFIER | HG02809.hp1 HG03041.hp2 HG03139.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0018a0002c0002t0013g0087a0002c0002t0013g0174others(1): Show | 4 | 418 | 0.0096 | -7 | c.*71 others(18): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 3151 | chr18 | TogoVar | ||||||
ENOSF1_chr18_665318_717630 | 717401 | ATTTTTTT | A | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(207): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(30): Show | a0001c0001t0001g0053a0001c0001t0001g0055a0001c0001t0001g0108others(200): Show | 210 | 418 | 0.5024 | -7 | c.-48 others(18): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 4772 | chr18 | TogoVar | ||||||
ENOX1_chr13_43208130_43791972 | 43263942 | GATAAACT | G | intron_variant | MODIFIER | HG01261.hp1 HG01496.hp1 HG01515.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005 | a0001c0001t0003g0065a0001c0001t0003g0067a0001c0001t0004g0088others(2): Show | 5 | 188 | 0.0266 | -7 | c.161 others(26): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 14/16 | chr13 | TogoVar | ||||||
ENOX1_chr13_43208130_43791972 | 43310197 | CAAAAAAA | C | intron_variant | MODIFIER | HG00609.hp1 HG01981.hp2 HG02257.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(1): Show | a0001c0001t0002g0031a0001c0001t0004g0044a0001c0001t0004g0116others(5): Show | 8 | 188 | 0.0426 | -7 | c.126 others(28): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 11/16 | chr13 | TogoVar | ||||||
ENOX1_chr13_43208130_43791972 | 43541173 | GTTTTTTT | G | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00609.hp2 others(67): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0098a0001c0001t0002g0010a0001c0001t0002g0011others(67): Show | 70 | 188 | 0.3723 | -7 | c.-21 others(28): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 2/16 | chr13 | TogoVar | ||||||
ENOX1_chr13_43208130_43791972 | 43598590 | TCTCTGCA | T | intron_variant | MODIFIER | HG02109.hp1 HG02486.hp1 HG02559.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0005a0001c0003t0011a0001c0003t0013 | a0001c0001t0005g0170a0001c0001t0005g0172a0001c0001t0005g0173others(4): Show | 7 | 188 | 0.0372 | -7 | c.-21 others(28): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 2/16 | chr13 | TogoVar | ||||||
ENOX1_chr13_43208130_43791972 | 43656794 | GCGCCTTT | G | intron_variant | MODIFIER | HG02559.hp1 HG02622.hp2 HG02717.hp2 others(5): Show |
a0001a0002a0003 | a0001c0001a0002c0004a0002c0006others(1): Show | a0001c0001t0005a0002c0004t0001a0002c0004t0015others(4): Show | a0001c0001t0005g0166a0002c0004t0001g0069a0002c0004t0015g0070others(5): Show | 8 | 188 | 0.0426 | -7 | c.-21 others(28): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 2/16 | chr13 | TogoVar | ||||||
ENOX1_chr13_43208130_43791972 | 43718676 | CAAAAAAA | C | intron_variant | MODIFIER | HG00544.hp2 HG00609.hp1 HG00609.hp2 others(100): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0080a0001c0001t0002g0006a0001c0001t0002g0010others(100): Show | 103 | 188 | 0.5479 | -7 | c.-28 others(28): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 1/16 | chr13 | TogoVar | ||||||
ENOX1_chr13_43208130_43791972 | 43776347 | GGAATGAA | G | intron_variant | MODIFIER | HG02109.hp1 HG02486.hp1 HG02717.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0005a0001c0003t0011 | a0001c0001t0005g0170a0001c0001t0005g0172a0001c0001t0005g0173others(1): Show | 4 | 188 | 0.0213 | -7 | c.-28 others(28): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 1/16 | chr13 | TogoVar | ||||||
ENOX2_chrX_130617325_130908209 | 130646705 | AAATTATT | A | intron_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0001 | 1 | 154 | 0.0065 | -7 | c.113 others(26): Show |
ENOX2 | ENSG00000165675.19 | transcript | ENST00000394363.6 | protein_coding | 10/14 | chrX | TogoVar |