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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ELOVL6_chr4_110040846_110203615 | 110044294 | AAAAAAC | A | downstream_gene_variant | MODIFIER | HG02717.hp1 HG02818.hp1 HG03130.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0014a0001c0001t0057 | a0001c0001t0006g0016a0001c0001t0006g0088a0001c0001t0014g0014others(3): Show | 6 | 338 | 0.0178 | -6 | c.*70 others(17): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1551 | chr4 | TogoVar | ||||||
ELOVL6_chr4_110040846_110203615 | 110069167 | TAATAGG | T | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG01070.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0001g0199a0001c0001t0003g0050a0001c0001t0003g0053others(21): Show | 24 | 338 | 0.0710 | -6 | c.222 others(23): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | ||||||
ELOVL6_chr4_110040846_110203615 | 110084128 | TGTGATA | T | intron_variant | MODIFIER | HG02622.hp2 HG03516.hp2 HG03579.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0075a0001c0002t0030 | a0001c0001t0007g0048a0001c0001t0075g0074a0001c0002t0030g0248 | 3 | 338 | 0.0089 | -6 | c.221 others(25): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | ||||||
ELOVL6_chr4_110040846_110203615 | 110084129 | GTGATAA | G | intron_variant | MODIFIER | HG01255.hp1 HG02145.hp2 HG02451.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0015others(5): Show | a0001c0001t0001g0089a0001c0001t0007g0013a0001c0001t0015g0148others(6): Show | 9 | 338 | 0.0266 | -6 | c.221 others(25): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | ||||||
ELOVL6_chr4_110040846_110203615 | 110094439 | ATATAAT | A | intron_variant | MODIFIER | HG01106.hp1 HG01884.hp2 HG02083.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0121a0001c0001t0002g0136a0001c0001t0005g0201others(4): Show | 7 | 338 | 0.0207 | -6 | c.221 others(25): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | ||||||
ELOVL6_chr4_110040846_110203615 | 110110401 | ATTTTTT | A | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG00597.hp2 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0027a0001c0001t0001g0035a0001c0001t0001g0121others(38): Show | 41 | 338 | 0.1213 | -6 | c.90- others(21): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | ||||||
ELOVL6_chr4_110040846_110203615 | 110120347 | AAAAAGT | A | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00558.hp2 others(91): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0044others(91): Show | 94 | 338 | 0.2781 | -6 | c.90- others(23): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | ||||||
ELOVL6_chr4_110040846_110203615 | 110129891 | ATTTTTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0010a0001c0001t0001g0036a0001c0001t0001g0095others(32): Show | 35 | 338 | 0.1036 | -6 | c.90- others(23): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | ||||||
ELOVL6_chr4_110040846_110203615 | 110147780 | GACACAC | G | intron_variant | MODIFIER | HG03041.hp2 HG03130.hp2 HG03139.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0026others(2): Show | a0001c0001t0001g0044a0001c0001t0001g0070a0001c0001t0001g0071others(6): Show | 9 | 338 | 0.0266 | -6 | c.90- others(23): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | ||||||
ELOVL6_chr4_110040846_110203615 | 110173670 | AAATAAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(210): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(54): Show | a0001c0001t0001g0057a0001c0001t0001g0089a0001c0001t0001g0095others(210): Show | 213 | 338 | 0.6302 | -6 | c.89+ others(23): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | ||||||
ELOVL7_chr5_60746791_60849269 | 60756245 | TAAATAC | T | intron_variant | MODIFIER | HG01109.hp1 HG01257.hp2 HG01258.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0126others(3): Show | 6 | 258 | 0.0233 | -6 | c.636 others(23): Show |
ELOVL7 | ENSG00000164181.14 | transcript | ENST00000508821.6 | protein_coding | 8/8 | chr5 | TogoVar | ||||||
ELOVL7_chr5_60746791_60849269 | 60800030 | CAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(146): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0003a0001c0001t0001g0040a0001c0001t0001g0042others(141): Show | 149 | 258 | 0.5775 | -6 | c.-85 others(21): Show |
ELOVL7 | ENSG00000164181.14 | transcript | ENST00000508821.6 | protein_coding | 1/8 | chr5 | TogoVar | ||||||
ELOVL7_chr5_60746791_60849269 | 60802061 | CATATAT | C | intron_variant | MODIFIER | HG01981.hp1 HG03453.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008a0001c0001t0009 | a0001c0001t0006g0139a0001c0001t0008g0137a0001c0001t0009g0245 | 3 | 258 | 0.0116 | -6 | c.-85 others(23): Show |
ELOVL7 | ENSG00000164181.14 | transcript | ENST00000508821.6 | protein_coding | 1/8 | chr5 | TogoVar | ||||||
ELP1_chr9_108862517_108939124 | 108872803 | TGAAAAA | T | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00544.hp2 others(44): Show |
a0002a0003a0008others(1): Show | a0002c0003a0002c0013a0003c0004others(4): Show | a0002c0003t0001a0002c0013t0001a0003c0004t0001others(4): Show | a0002c0003t0001g0006a0002c0003t0001g0030a0002c0003t0001g0031others(40): Show | 47 | 416 | 0.1130 | -6 | c.393 others(25): Show |
ELP1 | ENSG00000070061.16 | transcript | ENST00000374647.10 | protein_coding | 36/36 | chr9 | TogoVar | ||||||
ELP1_chr9_108862517_108939124 | 108884073 | TTAAAAG | T | intron_variant | MODIFIER | HG02622.hp1 HG02717.hp1 HG03098.hp2 others(2): Show |
a0002 | a0002c0013 | a0002c0013t0001 | a0002c0013t0001g0105a0002c0013t0001g0106a0002c0013t0001g0107others(2): Show | 5 | 416 | 0.0120 | -6 | c.322 others(25): Show |
ELP1 | ENSG00000070061.16 | transcript | ENST00000374647.10 | protein_coding | 29/36 | chr9 | TogoVar | ||||||
ELP1_chr9_108862517_108939124 | 108903824 | TACACAC | T | intron_variant | MODIFIER | HG00639.hp1 HG00733.hp2 HG01109.hp1 others(8): Show |
a0001a0005a0007 | a0001c0001a0005c0008a0005c0029others(1): Show | a0001c0001t0002a0005c0008t0001a0005c0029t0001others(1): Show | a0001c0001t0002g0308a0005c0008t0001g0122a0005c0029t0001g0121others(8): Show | 11 | 416 | 0.0264 | -6 | c.164 others(23): Show |
ELP1 | ENSG00000070061.16 | transcript | ENST00000374647.10 | protein_coding | 14/36 | chr9 | TogoVar | ||||||
ELP1_chr9_108862517_108939124 | 108905894 | CACACAT | C | intron_variant | MODIFIER | HG00639.hp1 HG01192.hp2 HG02486.hp1 others(9): Show |
a0005 | a0005c0008a0005c0029a0005c0031 | a0005c0008t0001a0005c0029t0001a0005c0031t0001 | a0005c0008t0001g0122a0005c0008t0001g0123a0005c0008t0001g0124others(9): Show | 12 | 416 | 0.0289 | -6 | c.164 others(23): Show |
ELP1 | ENSG00000070061.16 | transcript | ENST00000374647.10 | protein_coding | 14/36 | chr9 | TogoVar | ||||||
ELP2_chr18_36124899_36185557 | 36133897 | GTTTTTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00621.hp1 others(66): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0007a0002c0002t0008others(16): Show | a0002c0002t0003g0001a0002c0002t0003g0013a0002c0002t0003g0015others(65): Show | 69 | 378 | 0.1825 | -6 | c.217 others(21): Show |
ELP2 | ENSG00000134759.14 | transcript | ENST00000358232.11 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ELP2_chr18_36124899_36185557 | 36168913 | CTTTTTT | C | intron_variant | MODIFIER | HG01070.hp1 HG01943.hp2 HG02451.hp2 others(6): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0006c0005others(1): Show | a0001c0001t0006a0002c0002t0003a0002c0002t0008others(3): Show | a0001c0001t0006g0114a0001c0001t0006g0119a0002c0002t0003g0304others(6): Show | 9 | 378 | 0.0238 | -6 | c.207 others(25): Show |
ELP2 | ENSG00000134759.14 | transcript | ENST00000358232.11 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ELP3_chr8_28088139_28196153 | 28106539 | CAAAAAA | C | intron_variant | MODIFIER | HG02723.hp1 HG02818.hp2 HG03225.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0039a0001c0001t0001g0233a0001c0001t0001g0236others(3): Show | 6 | 398 | 0.0151 | -6 | c.259 others(21): Show |
ELP3 | ENSG00000134014.18 | transcript | ENST00000256398.13 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ELP3_chr8_28088139_28196153 | 28119572 | TTATATA | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00558.hp1 others(37): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0015a0001c0001t0001g0157a0001c0001t0001g0160others(36): Show | 40 | 398 | 0.1005 | -6 | c.617 others(23): Show |
ELP3 | ENSG00000134014.18 | transcript | ENST00000256398.13 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ELP3_chr8_28088139_28196153 | 28140114 | TTGTGTG | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(208): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0014a0001c0001t0001g0015others(195): Show | 211 | 398 | 0.5302 | -6 | c.110 others(25): Show |
ELP3 | ENSG00000134014.18 | transcript | ENST00000256398.13 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ELP4_chr11_31504767_31795324 | 31553725 | AACACAC | A | intron_variant | MODIFIER | HG02132.hp2 HG02523.hp2 HG02572.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0068a0001c0001t0001g0073a0001c0001t0001g0258others(4): Show | 7 | 270 | 0.0259 | -6 | c.381 others(25): Show |
ELP4 | ENSG00000109911.19 | transcript | ENST00000640961.2 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ELP4_chr11_31504767_31795324 | 31599522 | CAAAAAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00642.hp1 others(59): Show |
a0001a0002a0004 | a0001c0001a0001c0008a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0114a0001c0001t0001g0185a0001c0001t0002g0102others(59): Show | 62 | 270 | 0.2296 | -6 | c.514 others(23): Show |
ELP4 | ENSG00000109911.19 | transcript | ENST00000640961.2 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ELP4_chr11_31504767_31795324 | 31623354 | AATATAT | A | intron_variant | MODIFIER | HG00639.hp1 HG01081.hp1 HG01099.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0009others(1): Show | a0001c0001t0003g0183a0001c0001t0003g0193a0001c0001t0003g0194others(4): Show | 7 | 270 | 0.0259 | -6 | c.654 others(23): Show |
ELP4 | ENSG00000109911.19 | transcript | ENST00000640961.2 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ELP4_chr11_31504767_31795324 | 31668716 | GTGTGTA | G | intron_variant | MODIFIER | HG01884.hp1 HG01928.hp2 HG01934.hp1 others(8): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0019others(6): Show | a0001c0001t0001g0057a0001c0001t0001g0058a0001c0001t0004g0078others(8): Show | 11 | 270 | 0.0407 | -6 | c.114 others(27): Show |
ELP4 | ENSG00000109911.19 | transcript | ENST00000640961.2 | protein_coding | 9/9 | chr11 | TogoVar | ||||||
ELP4_chr11_31504767_31795324 | 31678495 | ATGTGTG | A | intron_variant | MODIFIER | HG00642.hp1 HG01099.hp1 HG01123.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0128a0001c0001t0001g0135a0001c0001t0001g0185others(11): Show | 14 | 270 | 0.0519 | -6 | c.114 others(27): Show |
ELP4 | ENSG00000109911.19 | transcript | ENST00000640961.2 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ELP4_chr11_31504767_31795324 | 31678537 | GTGTGTA | G | intron_variant | MODIFIER | HG01433.hp1 HG02300.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0033 | a0001c0001t0001g0019a0001c0001t0001g0032a0001c0001t0033g0060 | 3 | 270 | 0.0111 | -6 | c.114 others(27): Show |
ELP4 | ENSG00000109911.19 | transcript | ENST00000640961.2 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ELP4_chr11_31504767_31795324 | 31702327 | CAATAAT | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(258): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(82): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(258): Show | 261 | 270 | 0.9667 | -6 | c.114 others(27): Show |
ELP4 | ENSG00000109911.19 | transcript | ENST00000640961.2 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ELP4_chr11_31504767_31795324 | 31722665 | TTCTCTC | T | intron_variant | MODIFIER | HG00639.hp2 HG01981.hp1 HG01993.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(3): Show | a0001c0001t0001g0004a0001c0001t0006g0227a0001c0001t0006g0229others(9): Show | 12 | 270 | 0.0444 | -6 | c.114 others(27): Show |
ELP4 | ENSG00000109911.19 | transcript | ENST00000640961.2 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ELP4_chr11_31504767_31795324 | 31747033 | CTGTGTG | C | intron_variant | MODIFIER | HG02145.hp2 HG02258.hp2 HG02615.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008a0001c0001t0017others(2): Show | a0001c0001t0005g0264a0001c0001t0008g0269a0001c0001t0008g0270others(4): Show | 7 | 270 | 0.0259 | -6 | c.114 others(27): Show |
ELP4 | ENSG00000109911.19 | transcript | ENST00000640961.2 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ELP4_chr11_31504767_31795324 | 31790097 | CAAAAAA | C | 3_prime_UTR_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG03453.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0026a0001c0001t0033others(1): Show | a0001c0001t0018g0013a0001c0001t0018g0031a0001c0001t0018g0205others(4): Show | 7 | 270 | 0.0259 | -6 | c.*65 others(17): Show |
ELP4 | ENSG00000109911.19 | transcript | ENST00000640961.2 | protein_coding | 10/10 | 6591 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||
ELP4_chr11_31504767_31795324 | 31794420 | CCACACA | C | downstream_gene_variant | MODIFIER | HG02135.hp1 HG02698.hp1 HG04184.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0021others(2): Show | a0001c0001t0002g0120a0001c0001t0002g0143a0001c0001t0002g0178others(5): Show | 8 | 270 | 0.0296 | -6 | c.*10 others(19): Show |
ELP4 | ENSG00000109911.19 | transcript | ENST00000640961.2 | protein_coding | 4097 | chr11 | TogoVar | ||||||
ELP6_chr3_47490640_47518712 | 47514055 | TTTATTA | T | upstream_gene_variant | MODIFIER | HG03098.hp2 HG03540.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0010a0001c0001t0003g0019 | 3 | 374 | 0.0080 | -6 | c.-47 others(15): Show |
ELP6 | ENSG00000163832.16 | transcript | ENST00000296149.9 | protein_coding | 344 | chr3 | TogoVar | ||||||
ELSPBP1_chr19_47989632_48030154 | 48024036 | ATTTTTT | A | intron_variant | MODIFIER | HG00738.hp1 HG01106.hp1 HG01358.hp2 others(27): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0004others(2): Show | a0001c0001t0001a0002c0002t0001a0004c0004t0001others(4): Show | a0001c0001t0001g0030a0001c0001t0001g0264a0002c0002t0001g0099others(27): Show | 30 | 388 | 0.0773 | -6 | c.*8- others(19): Show |
ELSPBP1 | ENSG00000169393.10 | transcript | ENST00000339841.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ELSPBP1_chr19_47989632_48030154 | 48029798 | CAGAGAG | C | downstream_gene_variant | MODIFIER | HG01255.hp2 HG02683.hp2 NA18981.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0002 | a0001c0001t0001g0048a0001c0001t0001g0100a0001c0001t0001g0368others(1): Show | 4 | 388 | 0.0103 | -6 | c.*48 others(17): Show |
ELSPBP1 | ENSG00000169393.10 | transcript | ENST00000339841.7 | protein_coding | 4645 | chr19 | TogoVar | ||||||
EMB_chr5_50391192_50446288 | 50429968 | TTCTCTC | T | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00544.hp1 others(70): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0213a0001c0001t0001g0273a0001c0001t0002g0105others(61): Show | 73 | 346 | 0.2110 | -6 | c.113 others(23): Show |
EMB | ENSG00000170571.12 | transcript | ENST00000303221.10 | protein_coding | 1/8 | chr5 | TogoVar | ||||||
EMB_chr5_50391192_50446288 | 50440533 | CAAAAAA | C | intron_variant | MODIFIER | HG01167.hp2 HG01243.hp2 HG02145.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(2): Show | a0001c0001t0002g0055a0001c0001t0002g0060a0001c0001t0004g0049others(9): Show | 12 | 346 | 0.0347 | -6 | c.112 others(21): Show |
EMB | ENSG00000170571.12 | transcript | ENST00000303221.10 | protein_coding | 1/8 | chr5 | TogoVar | ||||||
EMC10_chr19_50471507_50495871 | 50472082 | GTGTGTA | G | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02559.hp2 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0027a0001c0002t0074a0001c0002t0090others(5): Show | a0001c0002t0027g0011a0001c0002t0074g0027a0001c0002t0090g0010others(5): Show | 10 | 352 | 0.0284 | -6 | c.-44 others(17): Show |
EMC10 | ENSG00000161671.17 | transcript | ENST00000334976.11 | protein_coding | 4424 | chr19 | TogoVar | ||||||
EMC10_chr19_50471507_50495871 | 50492039 | GGAGAGA | G | downstream_gene_variant | MODIFIER | HG00323.hp2 HG01358.hp1 NA18969.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003 | a0001c0002t0002g0003a0001c0002t0003g0003 | 3 | 352 | 0.0085 | -6 | c.*97 others(17): Show |
EMC10 | ENSG00000161671.17 | transcript | ENST00000334976.11 | protein_coding | 1169 | chr19 | TogoVar | ||||||
EMC2_chr8_108438624_108494196 | 108457331 | CGTGTGT | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0194a0001c0001t0001g0262a0001c0001t0003g0087others(9): Show | 15 | 364 | 0.0412 | -6 | c.363 others(23): Show |
EMC2 | ENSG00000104412.8 | transcript | ENST00000220853.8 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
EMC2_chr8_108438624_108494196 | 108466442 | ATTTTTT | A | intron_variant | MODIFIER | HG00733.hp2 HG00738.hp1 HG00738.hp2 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0002g0125a0001c0001t0002g0139a0001c0001t0002g0140others(37): Show | 45 | 364 | 0.1236 | -6 | c.364 others(23): Show |
EMC2 | ENSG00000104412.8 | transcript | ENST00000220853.8 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
EMC2_chr8_108438624_108494196 | 108485552 | TATACAC | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(225): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(24): Show | a0001c0001t0002g0003a0001c0001t0002g0005a0001c0001t0002g0006others(176): Show | 228 | 364 | 0.6264 | -6 | c.808 others(21): Show |
EMC2 | ENSG00000104412.8 | transcript | ENST00000220853.8 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
EMC3_chr3_9957682_9991841 | 9978145 | TAAAAAA | T | intron_variant | MODIFIER | HG00741.hp2 HG01257.hp2 HG01258.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0026others(1): Show | a0001c0001t0002g0033a0001c0001t0010g0008a0001c0001t0010g0030others(2): Show | 6 | 322 | 0.0186 | -6 | c.156 others(21): Show |
EMC3 | ENSG00000125037.13 | transcript | ENST00000245046.7 | protein_coding | 1/7 | chr3 | TogoVar | ||||||
EMC4_chr15_34220016_34235156 | 34231586 | TTCTTTC | T | downstream_gene_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG00639.hp2 others(67): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0002a0001c0001t0002g0017a0001c0001t0002g0020others(4): Show | 70 | 362 | 0.1934 | -6 | c.*17 others(17): Show |
EMC4 | ENSG00000128463.13 | transcript | ENST00000267750.9 | protein_coding | 1431 | chr15 | TogoVar | ||||||
EMC6_chr17_3663812_3674665 | 3665740 | TCCAAAA | T | upstream_gene_variant | MODIFIER | HG02257.hp1 HG02258.hp2 HG02647.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 6 | 414 | 0.0145 | -6 | c.-32 others(17): Show |
EMC6 | ENSG00000127774.7 | transcript | ENST00000248378.6 | protein_coding | 3071 | chr17 | TogoVar | ||||||
EMC7_chr15_34079017_34106862 | 34080748 | AATATAT | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(401): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(325): Show | 404 | 410 | 0.9854 | -6 | c.*35 others(17): Show |
EMC7 | ENSG00000134153.10 | transcript | ENST00000256545.9 | protein_coding | 3268 | chr15 | TogoVar | ||||||
EMC7_chr15_34079017_34106862 | 34105665 | AACACAC | A | upstream_gene_variant | MODIFIER | HG01496.hp1 HG02486.hp1 HG02559.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0071a0001c0001t0001g0072others(5): Show | 10 | 410 | 0.0244 | -6 | c.-38 others(17): Show |
EMC7 | ENSG00000134153.10 | transcript | ENST00000256545.9 | protein_coding | 3804 | chr15 | TogoVar | ||||||
EMC9_chr14_24133965_24146591 | 24140146 | AATATAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(203): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0007others(9): Show | 206 | 422 | 0.4882 | -6 | c.276 others(21): Show |
EMC9 | ENSG00000100908.14 | transcript | ENST00000216799.9 | protein_coding | 3/5 | chr14 | TogoVar | ||||||
EMCN_chr4_100390341_100523022 | 100459168 | GCTCTCT | G | intron_variant | MODIFIER | HG01258.hp2 HG01943.hp1 HG02109.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0018 | a0001c0001t0002g0216a0001c0001t0003g0102a0001c0001t0003g0186others(3): Show | 6 | 262 | 0.0229 | -6 | c.376 others(23): Show |
EMCN | ENSG00000164035.10 | transcript | ENST00000296420.9 | protein_coding | 4/11 | chr4 | TogoVar |