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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EMC2_chr8_108438624_108494196 | 108468589 | CTTTCA | C | intron_variant | MODIFIER | HG00733.hp2 HG02486.hp2 HG02683.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0016 | a0001c0001t0004g0047a0001c0001t0004g0050a0001c0001t0004g0051others(3): Show | 6 | 364 | 0.0165 | -5 | c.364 others(22): Show |
EMC2 | ENSG00000104412.8 | transcript | ENST00000220853.8 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
EMC4_chr15_34220016_34235156 | 34231587 | TCTTTC | T | downstream_gene_variant | MODIFIER | HG02280.hp1 HG04115.hp1 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 3 | 362 | 0.0083 | -5 | c.*18 others(16): Show |
EMC4 | ENSG00000128463.13 | transcript | ENST00000267750.9 | protein_coding | 1432 | chr15 | TogoVar | ||||||
EMC8_chr16_85773624_85804544 | 85773957 | CAAAAA | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(163): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0009others(107): Show | 166 | 408 | 0.4069 | -5 | c.*57 others(16): Show |
EMC8 | ENSG00000131148.9 | transcript | ENST00000253457.8 | protein_coding | 4666 | chr16 | TogoVar | ||||||
EMC8_chr16_85773624_85804544 | 85790146 | CTTGAT | C | intron_variant | MODIFIER | HG01255.hp2 HG02055.hp2 HG02109.hp1 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0012a0001c0001t0021others(3): Show | a0001c0001t0001g0098a0001c0001t0001g0146a0001c0001t0001g0147others(8): Show | 11 | 408 | 0.0270 | -5 | c.232 others(22): Show |
EMC8 | ENSG00000131148.9 | transcript | ENST00000253457.8 | protein_coding | 1/4 | chr16 | TogoVar | ||||||
EMC8_chr16_85773624_85804544 | 85802550 | CAACAT | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(395): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0009others(225): Show | 398 | 408 | 0.9755 | -5 | c.-32 others(16): Show |
EMC8 | ENSG00000131148.9 | transcript | ENST00000253457.8 | protein_coding | 3007 | chr16 | TogoVar | ||||||
EMCN_chr4_100390341_100523022 | 100475659 | CTTTTT | C | intron_variant | MODIFIER | HG00597.hp1 HG00741.hp1 HG01167.hp1 others(5): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0011a0001c0001t0027others(1): Show | a0001c0001t0002g0176a0001c0001t0002g0181a0001c0001t0002g0221others(5): Show | 8 | 262 | 0.0305 | -5 | c.188 others(20): Show |
EMCN | ENSG00000164035.10 | transcript | ENST00000296420.9 | protein_coding | 2/11 | chr4 | TogoVar | ||||||
EMCN_chr4_100390341_100523022 | 100493599 | CTTCTA | C | intron_variant | MODIFIER | NA18980.hp2 NA19060.hp1 NA19088.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0014 | a0002c0002t0001g0135a0002c0002t0001g0136a0002c0002t0014g0137 | 3 | 262 | 0.0115 | -5 | c.65- others(22): Show |
EMCN | ENSG00000164035.10 | transcript | ENST00000296420.9 | protein_coding | 1/11 | chr4 | TogoVar | ||||||
EMD_chrX_154374295_154386523 | 154375871 | CAAAAA | C | upstream_gene_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 284 | 0.0035 | -5 | c.-36 others(16): Show |
EMD | ENSG00000102119.12 | transcript | ENST00000369842.9 | protein_coding | 3423 | chrX | TogoVar | ||||||
EMD_chrX_154374295_154386523 | 154382249 | AGAGAC | A | downstream_gene_variant | MODIFIER | NA19072.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0010 | 1 | 284 | 0.0035 | -5 | c.*10 others(16): Show |
EMD | ENSG00000102119.12 | transcript | ENST00000369842.9 | protein_coding | 727 | chrX | TogoVar | ||||||
EMG1_chr12_6965913_6984936 | 6975000 | CATCTT | C | intron_variant | MODIFIER | HG01891.hp2 HG02280.hp1 HG02622.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 5 | 338 | 0.0148 | -5 | c.413 others(18): Show |
EMG1 | ENSG00000126749.17 | transcript | ENST00000599672.6 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
EMID1_chr22_29200896_29264597 | 29235780 | CTTTTT | C | intron_variant | MODIFIER | HG00438.hp1 HG00639.hp1 HG00733.hp1 others(45): Show |
a0003a0004a0005 | a0003c0003a0004c0004a0005c0006 | a0003c0003t0001a0003c0003t0002a0003c0003t0003others(5): Show | a0003c0003t0001g0028a0003c0003t0001g0210a0003c0003t0001g0318others(44): Show | 48 | 348 | 0.1379 | -5 | c.107 others(24): Show |
EMID1 | ENSG00000186998.16 | transcript | ENST00000334018.11 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
EMID1_chr22_29200896_29264597 | 29248259 | CTTTTT | C | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp1 HG01884.hp1 others(44): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(5): Show | a0001c0002t0001g0014a0001c0002t0001g0059a0001c0002t0001g0060others(42): Show | 47 | 348 | 0.1351 | -5 | c.111 others(24): Show |
EMID1 | ENSG00000186998.16 | transcript | ENST00000334018.11 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
EMID1_chr22_29200896_29264597 | 29249590 | ATTTAT | A | intron_variant | MODIFIER | NA18939.hp2 NA18943.hp2 NA18971.hp2 others(3): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0001c0002t0002a0002c0001t0002 | a0001c0002t0001g0173a0001c0002t0001g0175a0001c0002t0002g0123others(3): Show | 6 | 348 | 0.0172 | -5 | c.112 others(24): Show |
EMID1 | ENSG00000186998.16 | transcript | ENST00000334018.11 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
EMILIN2_chr18_2842006_2921003 | 2856212 | AAAAAT | A | intron_variant | MODIFIER | HG02055.hp1 HG02970.hp2 HG02976.hp2 |
a0001 | a0001c0001a0001c0002a0001c0014 | a0001c0001t0005a0001c0002t0015a0001c0014t0002 | a0001c0001t0005g0044a0001c0002t0015g0243a0001c0014t0002g0043 | 3 | 452 | 0.0066 | -5 | c.257 others(22): Show |
EMILIN2 | ENSG00000132205.11 | transcript | ENST00000254528.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
EMILIN2_chr18_2842006_2921003 | 2905778 | TTTTTG | T | intron_variant | MODIFIER | HG00738.hp1 HG01081.hp1 HG01167.hp1 others(21): Show |
a0001a0006a0010others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(10): Show | a0001c0001t0002g0040a0001c0001t0002g0208a0001c0001t0002g0254others(21): Show | 24 | 452 | 0.0531 | -5 | c.236 others(23): Show |
EMILIN2 | ENSG00000132205.11 | transcript | ENST00000254528.4 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
EMILIN2_chr18_2842006_2921003 | 2914083 | GTTAAT | G | 3_prime_UTR_variant | MODIFIER | HG02622.hp1 HG02647.hp1 NA20129.hp2 |
a0001 | a0001c0001a0001c0003a0001c0016 | a0001c0001t0016a0001c0003t0016a0001c0016t0016 | a0001c0001t0016g0344a0001c0003t0016g0061a0001c0016t0016g0029 | 3 | 452 | 0.0066 | -5 | c.*68 others(14): Show |
EMILIN2 | ENSG00000132205.11 | transcript | ENST00000254528.4 | protein_coding | 8/8 | 684 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||
EML1_chr14_99788413_99947060 | 99844546 | CTTTAT | C | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG00735.hp2 others(43): Show |
a0001a0002a0003 | a0001c0004a0001c0005a0001c0007others(2): Show | a0001c0004t0001a0001c0004t0002a0001c0004t0003others(11): Show | a0001c0004t0001g0009a0001c0004t0001g0040a0001c0004t0001g0091others(43): Show | 46 | 288 | 0.1597 | -5 | c.68- others(20): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
EML1_chr14_99788413_99947060 | 99856302 | GAATAT | G | intron_variant | MODIFIER | HG01109.hp2 HG01123.hp2 HG02109.hp2 others(11): Show |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0001a0001c0003t0007a0002c0001t0002 | a0001c0003t0001g0012a0001c0003t0001g0080a0001c0003t0001g0220others(11): Show | 14 | 288 | 0.0486 | -5 | c.250 others(22): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
EML1_chr14_99788413_99947060 | 99882649 | TAAAAA | T | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(177): Show |
a0001a0002a0003others(2): Show | a0001c0003a0001c0005a0002c0001others(8): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(23): Show | a0001c0003t0001g0006a0001c0003t0001g0007a0001c0003t0001g0008others(176): Show | 180 | 288 | 0.6250 | -5 | c.518 others(22): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
EML1_chr14_99788413_99947060 | 99885813 | ATATCT | A | intron_variant | MODIFIER | HG01109.hp2 HG02109.hp2 HG02280.hp2 others(16): Show |
a0001a0006 | a0001c0003a0006c0011 | a0001c0003t0001a0001c0003t0005a0001c0003t0007others(1): Show | a0001c0003t0001g0012a0001c0003t0001g0080a0001c0003t0001g0167others(16): Show | 19 | 288 | 0.0660 | -5 | c.519 others(22): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
EML1_chr14_99788413_99947060 | 99946093 | TAAAAA | T | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG01069.hp1 others(13): Show |
a0001a0002 | a0001c0003a0001c0004a0001c0005others(1): Show | a0001c0003t0001a0001c0003t0003a0001c0004t0003others(2): Show | a0001c0003t0001g0012a0001c0003t0001g0220a0001c0003t0001g0221others(13): Show | 16 | 288 | 0.0556 | -5 | c.*59 others(16): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 4034 | chr14 | TogoVar | ||||||
EML4_chr2_42164353_42337548 | 42177228 | CAACTT | C | intron_variant | MODIFIER | HG02109.hp2 HG02572.hp1 HG02723.hp2 others(5): Show |
a0001a0007 | a0001c0001a0001c0005a0001c0012others(1): Show | a0001c0001t0005a0001c0005t0003a0001c0005t0014others(2): Show | a0001c0001t0005g0340a0001c0005t0003g0337a0001c0005t0003g0341others(5): Show | 8 | 358 | 0.0224 | -5 | c.25+ others(20): Show |
EML4 | ENSG00000143924.19 | transcript | ENST00000318522.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML4_chr2_42164353_42337548 | 42220236 | ATTTTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00438.hp2 others(124): Show |
a0001a0002a0005 | a0001c0001a0001c0010a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0059a0001c0001t0002g0332a0001c0001t0002g0333others(122): Show | 127 | 358 | 0.3548 | -5 | c.26- others(22): Show |
EML4 | ENSG00000143924.19 | transcript | ENST00000318522.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML4_chr2_42164353_42337548 | 42242719 | TTTCTC | T | intron_variant | MODIFIER | HG02622.hp2 HG02717.hp2 HG02886.hp2 others(10): Show |
a0002a0008 | a0002c0002a0008c0011 | a0002c0002t0001a0002c0002t0007a0002c0002t0008others(1): Show | a0002c0002t0001g0019a0002c0002t0001g0020a0002c0002t0001g0023others(10): Show | 13 | 358 | 0.0363 | -5 | c.26- others(20): Show |
EML4 | ENSG00000143924.19 | transcript | ENST00000318522.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML5_chr14_88607431_88797953 | 88663262 | CATTTT | C | intron_variant | MODIFIER | HG02717.hp2 NA18522.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0004a0001c0001t0014g0005a0001c0001t0014g0006 | 3 | 332 | 0.0090 | -5 | c.341 others(22): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 23/43 | chr14 | TogoVar | ||||||
EML5_chr14_88607431_88797953 | 88726102 | TTACTC | T | intron_variant | MODIFIER | HG02451.hp1 HG02723.hp1 HG03453.hp2 |
a0003 | a0003c0005 | a0003c0005t0015 | a0003c0005t0015g0013a0003c0005t0015g0014a0003c0005t0015g0015 | 3 | 332 | 0.0090 | -5 | c.118 others(22): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 8/43 | chr14 | TogoVar | ||||||
EML5_chr14_88607431_88797953 | 88751614 | AGAGTT | A | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp1 others(102): Show |
a0001a0006a0008 | a0001c0001a0006c0008a0008c0011 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(9): Show | a0001c0001t0002g0001a0001c0001t0002g0002a0001c0001t0002g0086others(100): Show | 105 | 332 | 0.3163 | -5 | c.357 others(22): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 2/43 | chr14 | TogoVar | ||||||
EML5_chr14_88607431_88797953 | 88796286 | ATATGT | A | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG00733.hp1 others(25): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0011a0001c0001t0017a0001c0001t0019others(8): Show | a0001c0001t0011g0214a0001c0001t0011g0215a0001c0001t0017g0010others(25): Show | 28 | 332 | 0.0843 | -5 | c.-37 others(16): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 3334 | chr14 | TogoVar | ||||||
EML5_chr14_88607431_88797953 | 88796305 | TATATA | T | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG00733.hp1 others(25): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0011a0001c0001t0017a0001c0001t0019others(8): Show | a0001c0001t0011g0214a0001c0001t0011g0215a0001c0001t0017g0010others(25): Show | 28 | 332 | 0.0843 | -5 | c.-38 others(16): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 3353 | chr14 | TogoVar | ||||||
EML5_chr14_88607431_88797953 | 88796313 | ATATGT | A | upstream_gene_variant | MODIFIER | HG02145.hp2 HG02280.hp2 HG02630.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0006a0001c0001t0011a0001c0003t0004others(2): Show | a0001c0001t0006g0208a0001c0001t0011g0213a0001c0001t0011g0216others(6): Show | 9 | 332 | 0.0271 | -5 | c.-38 others(16): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 3361 | chr14 | TogoVar | ||||||
EML5_chr14_88607431_88797953 | 88796332 | TATATA | T | upstream_gene_variant | MODIFIER | HG02280.hp2 HG02630.hp2 HG02723.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0011a0001c0003t0004a0002c0002t0001others(1): Show | a0001c0001t0011g0213a0001c0001t0011g0216a0001c0003t0004g0310others(5): Show | 8 | 332 | 0.0241 | -5 | c.-38 others(16): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 3380 | chr14 | TogoVar | ||||||
EML5_chr14_88607431_88797953 | 88796340 | ATATGT | A | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01256.hp2 HG01257.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0283a0001c0001t0001g0290a0001c0001t0006g0003others(4): Show | 8 | 332 | 0.0241 | -5 | c.-38 others(16): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 3388 | chr14 | TogoVar | ||||||
EML5_chr14_88607431_88797953 | 88796359 | TATATA | T | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01256.hp2 HG01257.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0283a0001c0001t0001g0290a0001c0001t0006g0003others(3): Show | 7 | 332 | 0.0211 | -5 | c.-38 others(16): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 3407 | chr14 | TogoVar | ||||||
EML5_chr14_88607431_88797953 | 88796567 | ATATAT | A | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01256.hp2 HG01257.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0006a0002c0002t0007 | a0001c0001t0001g0283a0001c0001t0001g0290a0001c0001t0006g0003others(4): Show | 8 | 332 | 0.0241 | -5 | c.-40 others(16): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 3615 | chr14 | TogoVar | ||||||
EML5_chr14_88607431_88797953 | 88796720 | ATGTTT | A | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00733.hp1 HG01099.hp2 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0021a0002c0002t0038 | a0002c0002t0001g0236a0002c0002t0001g0239a0002c0002t0001g0243others(6): Show | 9 | 332 | 0.0271 | -5 | c.-42 others(16): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 3768 | chr14 | TogoVar | ||||||
EML5_chr14_88607431_88797953 | 88796752 | ATGTTT | A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00544.hp2 others(55): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0006others(5): Show | a0001c0001t0001g0280a0002c0002t0001g0193a0002c0002t0001g0194others(55): Show | 58 | 332 | 0.1747 | -5 | c.-42 others(16): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 3800 | chr14 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54740419 | AAGGTG | A | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp1 HG01074.hp1 others(10): Show |
a0001 | a0001c0001a0001c0003a0001c0030 | a0001c0001t0001a0001c0003t0002a0001c0003t0027others(1): Show | a0001c0001t0001g0152a0001c0003t0002g0148a0001c0003t0002g0150others(10): Show | 13 | 264 | 0.0492 | -5 | c.197 others(24): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54765819 | ATACTT | A | intron_variant | MODIFIER | HG00558.hp1 HG00735.hp1 HG01070.hp1 others(31): Show |
a0001a0004a0010 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(14): Show | a0001c0001t0001g0076a0001c0001t0001g0147a0001c0001t0001g0177others(31): Show | 34 | 264 | 0.1288 | -5 | c.197 others(24): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54806612 | CAAAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00558.hp1 others(33): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(14): Show | a0001c0001t0001g0186a0001c0001t0001g0223a0001c0001t0001g0225others(33): Show | 36 | 264 | 0.1364 | -5 | c.198 others(22): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54832726 | GTGTCC | G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(57): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(34): Show | a0001c0001t0001g0048a0001c0001t0001g0181a0001c0001t0001g0182others(57): Show | 60 | 264 | 0.2273 | -5 | c.847 others(22): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 7/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54861789 | CTAATG | C | intron_variant | MODIFIER | HG00735.hp2 HG01069.hp1 HG02080.hp1 others(13): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0003a0001c0001t0004a0001c0002t0003others(7): Show | a0001c0001t0003g0143a0001c0001t0004g0242a0001c0002t0003g0114others(13): Show | 16 | 264 | 0.0606 | -5 | c.182 others(24): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 12/41 | chr2 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54886157 | CTTCTT | C | intron_variant | MODIFIER | HG00642.hp1 HG00735.hp1 HG00735.hp2 others(45): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0190a0001c0001t0002g0189a0001c0001t0003g0143others(45): Show | 48 | 264 | 0.1818 | -5 | c.243 others(24): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 17/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EMP1_chr12_13191726_13224941 | 13192654 | CAAAAA | C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00438.hp1 others(209): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(132): Show | 212 | 444 | 0.4775 | -5 | c.-42 others(16): Show |
EMP1 | ENSG00000134531.10 | transcript | ENST00000256951.10 | protein_coding | 4071 | chr12 | TogoVar | ||||||
EMP2_chr16_10523422_10585598 | 10525317 | ATTTTT | A | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00738.hp2 HG00741.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0046a0001c0001t0048others(10): Show | a0001c0001t0002g0073a0001c0001t0002g0186a0001c0001t0002g0271others(23): Show | 26 | 402 | 0.0647 | -5 | c.*75 others(16): Show |
EMP2 | ENSG00000213853.10 | transcript | ENST00000359543.8 | protein_coding | 3104 | chr16 | TogoVar | ||||||
EMP2_chr16_10523422_10585598 | 10575237 | CTTTTT | C | intron_variant | MODIFIER | HG00544.hp2 HG00621.hp1 HG00735.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(11): Show | a0001c0001t0002g0161a0001c0001t0002g0186a0001c0001t0004g0048others(14): Show | 17 | 402 | 0.0423 | -5 | c.-61 others(22): Show |
EMP2 | ENSG00000213853.10 | transcript | ENST00000359543.8 | protein_coding | 1/4 | chr16 | TogoVar | ||||||
ENAH_chr1_225481829_225658123 | 225503676 | AAACAC | A | intron_variant | MODIFIER | HG01361.hp1 HG03017.hp2 HG03834.hp1 others(8): Show |
a0001a0002 | a0001c0003a0001c0008a0002c0006 | a0001c0003t0014a0001c0003t0029a0001c0003t0107others(4): Show | a0001c0003t0014g0022a0001c0003t0014g0049a0001c0003t0014g0050others(8): Show | 11 | 308 | 0.0357 | -5 | c.153 others(24): Show |
ENAH | ENSG00000154380.19 | transcript | ENST00000366843.7 | protein_coding | 11/13 | chr1 | TogoVar | ||||||
ENAH_chr1_225481829_225658123 | 225518514 | ATTAAC | A | intron_variant | MODIFIER | HG00323.hp2 HG01070.hp1 HG01071.hp1 others(53): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0004a0001c0001t0009a0001c0001t0010others(21): Show | a0001c0001t0004g0015a0001c0001t0004g0245a0001c0001t0004g0249others(53): Show | 56 | 308 | 0.1818 | -5 | c.802 others(20): Show |
ENAH | ENSG00000154380.19 | transcript | ENST00000366843.7 | protein_coding | 5/13 | chr1 | TogoVar | ||||||
ENAH_chr1_225481829_225658123 | 225585215 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(122): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(43): Show | a0001c0001t0001g0082a0001c0001t0001g0119a0001c0001t0001g0123others(122): Show | 125 | 308 | 0.4058 | -5 | c.6-1 others(20): Show |
ENAH | ENSG00000154380.19 | transcript | ENST00000366843.7 | protein_coding | 1/13 | chr1 | TogoVar | ||||||
ENAM_chr4_70623744_70651824 | 70624753 | TTTTTA | T | upstream_gene_variant | MODIFIER | HG02145.hp1 HG02280.hp2 HG02647.hp2 others(5): Show |
a0004 | a0004c0004 | a0004c0004t0005 | a0004c0004t0005g0025a0004c0004t0005g0039a0004c0004t0005g0103others(2): Show | 8 | 410 | 0.0195 | -5 | c.-42 others(16): Show |
ENAM | ENSG00000132464.13 | transcript | ENST00000396073.4 | protein_coding | 3990 | chr4 | TogoVar | ||||||
ENAM_chr4_70623744_70651824 | 70624775 | CTTTTT | C | upstream_gene_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02615.hp1 others(4): Show |
a0001a0002a0003 | a0001c0008a0002c0002a0003c0003others(1): Show | a0001c0008t0010a0002c0002t0004a0003c0003t0003others(2): Show | a0001c0008t0010g0029a0002c0002t0004g0077a0003c0003t0003g0061others(2): Show | 7 | 410 | 0.0171 | -5 | c.-42 others(16): Show |
ENAM | ENSG00000132464.13 | transcript | ENST00000396073.4 | protein_coding | 3968 | chr4 | TogoVar |