view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EPHB4_chr7_100797565_100832523 | 100801795 | AAAAAAAG | A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(31): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0002a0001c0002t0001a0001c0002t0013others(2): Show | a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0002g0091 others(26): Show |
34 | 362 | 0.0939 | -7 | c.*16 others(18): Show |
EPHB4 | ENSG00000196411.10 | transcript | ENST00000358173.8 | protein_coding | 769 | chr7 | TogoVar | |||||||
EPHX1_chr1_225805124_225850563 | 225831553 | AAAAAAAG | A | intron_variant | MODIFIER | HG01167.hp2 HG01943.hp1 HG02109.hp2 others(10): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0004a0001c0011others(7): Show | a0001c0001t0001a0001c0004t0001a0001c0011t0001others(7): Show | a0001c0001t0001g0299 a0001c0001t0001g0386 a0001c0004t0001g0378 others(10): Show |
13 | 420 | 0.0310 | -7 | c.184 others(22): Show |
EPHX1 | ENSG00000143819.13 | transcript | ENST00000272167.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EPHX3_chr19_15221919_15237448 | 15228503 | ATTTTTTT | A | intron_variant | MODIFIER | HG01517.hp2 HG01978.hp1 HG02257.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0025 a0001c0001t0001g0040 a0001c0001t0001g0041 others(7): Show |
15 | 43 | 0.3488 | -7 | c.617 others(22): Show |
EPHX3 | ENSG00000105131.8 | transcript | ENST00000221730.8 | protein_coding | 4/6 | chr19 | TogoVar | |||||||
EPN2_chr17_19232366_19341715 | 19276360 | ATTTTTTT | A | intron_variant | MODIFIER | HG01934.hp2 HG02109.hp2 HG02145.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0014 others(6): Show |
9 | 38 | 0.2368 | -7 | c.-29 others(26): Show |
EPN2 | ENSG00000072134.16 | transcript | ENST00000314728.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
EPPK1_chr8_143852324_143883467 | 143878203 | ACTCGGAG | A | intron_variant | MODIFIER | HG00733.hp1 HG01099.hp1 HG01192.hp2 others(6): Show |
a0005a0006a0007others(2): Show | a0005c0007a0006c0085a0007c0047others(3): Show | a0005c0007t0003a0005c0007t0023a0006c0085t0002others(4): Show | a0005c0007t0003g0009 a0005c0007t0023g0257 a0006c0085t0002g0259 others(4): Show |
9 | 422 | 0.0213 | -7 | c.-46 others(22): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 1/1 | chr8 | TogoVar | |||||||
EPPK1_chr8_143852324_143883467 | 143883273 | AAGGGGCC | A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00423.hp1 others(31): Show |
a0005a0006a0007others(17): Show | a0005c0007a0006c0085a0007c0047others(22): Show | a0005c0007t0003a0005c0007t0023a0006c0085t0002others(25): Show | a0005c0007t0003g0009 a0005c0007t0003g0140 a0005c0007t0003g0331 others(28): Show |
34 | 381 | 0.0892 | -7 | c.-48 others(18): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 4807 | chr8 | TogoVar | |||||||
EPS15_chr1_51349263_51524266 | 51357392 | ATATATAT | A | intron_variant | MODIFIER | HG02630.hp2 NA19240.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0030 a0001c0002t0002g0031 |
2 | 135 | 0.0148 | -7 | c.254 others(24): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | TogoVar | |||||||
EPS15_chr1_51349263_51524266 | 51454049 | CAAAAAAA | C | intron_variant | MODIFIER | HG01167.hp2 HG01346.hp1 HG01891.hp1 others(10): Show |
a0002 | a0002c0004a0002c0014 | a0002c0004t0002a0002c0014t0002 | a0002c0004t0002g0004 a0002c0004t0002g0005 a0002c0004t0002g0006 others(10): Show |
13 | 86 | 0.1512 | -7 | c.562 others(24): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | TogoVar | |||||||
EPS15_chr1_51349263_51524266 | 51475332 | CTCTAACA | C | intron_variant | MODIFIER | HG00642.hp1 HG01257.hp2 NA20129.hp2 |
a0002 | a0002c0001 | a0002c0001t0007 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 |
3 | 150 | 0.0200 | -7 | c.76- others(22): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | TogoVar | |||||||
EPS15_chr1_51349263_51524266 | 51491854 | ATTTAATT | A | intron_variant | MODIFIER | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
a0002a0004a0010 | a0002c0001a0004c0010a0010c0015 | a0002c0001t0011a0004c0010t0026a0010c0015t0011 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | 150 | 0.0333 | -7 | c.34- others(24): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | TogoVar | |||||||
EPS8L1_chr19_55070869_55092923 | 55071399 | CTGGGACT | C | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG00621.hp1 others(41): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0008a0001c0012others(6): Show | a0001c0001t0001a0001c0008t0001a0001c0012t0001others(7): Show | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0136 others(22): Show |
44 | 337 | 0.1306 | -7 | c.-45 others(18): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 4469 | chr19 | TogoVar | |||||||
EPSTI1_chr13_42881388_42997241 | 42908484 | GAAAAAAA | G | intron_variant | MODIFIER | HG00280.hp2 HG01074.hp2 HG01106.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0017a0001c0001t0024others(2): Show | a0001c0001t0006g0327 a0001c0001t0017g0071 a0001c0001t0017g0113 others(11): Show |
14 | 243 | 0.0576 | -7 | c.742 others(24): Show |
EPSTI1 | ENSG00000133106.15 | transcript | ENST00000313624.12 | protein_coding | 8/10 | chr13 | TogoVar | |||||||
EPX_chr17_58187726_58210174 | 58203931 | CAAAAAAA | C | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01169.hp2 others(10): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0003c0004others(2): Show | a0001c0001t0001a0001c0002t0003a0003c0004t0002others(2): Show | a0001c0001t0001g0082 a0001c0001t0001g0105 a0001c0002t0003g0125 others(6): Show |
13 | 65 | 0.2000 | -7 | c.194 others(24): Show |
EPX | ENSG00000121053.6 | transcript | ENST00000225371.6 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
EQTN_chr9_27279654_27302150 | 27284140 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00597.hp1 others(165): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 others(71): Show |
168 | 204 | 0.8235 | -7 | c.*57 others(16): Show |
EQTN | ENSG00000120160.11 | transcript | ENST00000380032.8 | protein_coding | 513 | chr9 | TogoVar | |||||||
ERAP1_chr5_96769484_96812945 | 96794171 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00558.hp1 others(39): Show |
a0004 | a0004c0004 | a0004c0004t0001a0004c0004t0002a0004c0004t0005 | a0004c0004t0001g0003 a0004c0004t0001g0035 a0004c0004t0001g0036 others(26): Show |
42 | 117 | 0.3590 | -7 | c.920 others(22): Show |
ERAP1 | ENSG00000164307.13 | transcript | ENST00000443439.7 | protein_coding | 5/18 | chr5 | TogoVar | |||||||
ERAP1_chr5_96769484_96812945 | 96806623 | CTTTTTTT | C | intron_variant | MODIFIER | HG00738.hp1 HG01257.hp1 HG01258.hp2 others(6): Show |
a0002a0008a0011 | a0002c0002a0008c0008a0011c0011 | a0002c0002t0008a0008c0008t0003a0011c0011t0001others(1): Show | a0002c0002t0008g0258 a0008c0008t0003g0022 a0011c0011t0001g0045 others(4): Show |
9 | 128 | 0.0703 | -7 | c.-18 others(24): Show |
ERAP1 | ENSG00000164307.13 | transcript | ENST00000443439.7 | protein_coding | 1/18 | chr5 | TogoVar | |||||||
ERAP2_chr5_96871500_96924703 | 96922958 | ATGTTTTT | A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00423.hp1 others(216): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0004a0002c0002others(9): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0002others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0040 a0001c0004t0001g0030 others(168): Show |
219 | 396 | 0.5530 | -7 | c.*53 others(18): Show |
ERAP2 | ENSG00000164308.17 | transcript | ENST00000437043.8 | protein_coding | 3256 | chr5 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 211414500 | TAAAAAAA | T | intron_variant | MODIFIER | HG02145.hp2 HG02258.hp2 HG02965.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009a0001c0001t0010others(1): Show | a0001c0001t0004g0003 a0001c0001t0004g0008 a0001c0001t0004g0011 others(5): Show |
8 | 11 | 0.7273 | -7 | c.313 others(26): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 25/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 211425357 | TATAAAAC | T | intron_variant | MODIFIER | HG02145.hp2 HG02965.hp2 HG03453.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0029 | a0001c0001t0004g0003 a0001c0001t0004g0008 a0001c0001t0004g0011 others(2): Show |
5 | 56 | 0.0893 | -7 | c.272 others(26): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 22/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 211773624 | ATATATAT | A | intron_variant | MODIFIER | HG03471.hp2 NA18522.hp2 NA19043.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0024a0001c0001t0026a0001c0002t0001 | a0001c0001t0024g0038 a0001c0001t0026g0052 a0001c0002t0001g0036 |
3 | 55 | 0.0545 | -7 | c.556 others(26): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 4/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 211861094 | AAATACAT | A | intron_variant | MODIFIER | HG01175.hp1 HG01175.hp2 HG01192.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0002t0001 | a0001c0001t0002g0032 a0001c0001t0005g0015 a0001c0002t0001g0031 others(1): Show |
4 | 56 | 0.0714 | -7 | c.422 others(26): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 3/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212228673 | GTAAACCC | G | intron_variant | MODIFIER | HG02258.hp1 HG03453.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0047 a0001c0002t0001g0048 |
2 | 56 | 0.0357 | -7 | c.83- others(26): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212349501 | TAAAATAA | T | intron_variant | MODIFIER | HG01243.hp1 HG02145.hp1 HG03471.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0009a0001c0001t0010others(2): Show | a0001c0001t0003g0049 a0001c0001t0009g0023 a0001c0001t0010g0022 others(2): Show |
5 | 56 | 0.0893 | -7 | c.82+ others(26): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212462081 | CATATACA | C | intron_variant | MODIFIER | HG02258.hp1 HG03453.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0047 a0001c0002t0001g0048 |
2 | 56 | 0.0357 | -7 | c.82+ others(24): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ERBIN_chr5_65921575_66087546 | 65964937 | TGTGTGTG | T | intron_variant | MODIFIER | HG00642.hp1 HG02970.hp2 HG04228.hp2 others(5): Show |
a0001a0003a0015 | a0001c0001a0003c0004a0015c0013 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0073 others(5): Show |
8 | 304 | 0.0263 | -7 | c.-57 others(26): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 1/25 | chr5 | TogoVar | |||||||
ERBIN_chr5_65921575_66087546 | 65966680 | CAAAAAAA | C | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp1 HG02451.hp2 others(12): Show |
a0004 | a0004c0005a0004c0014a0004c0017 | a0004c0005t0004a0004c0005t0026a0004c0014t0004others(1): Show | a0004c0005t0004g0008 a0004c0005t0004g0010 a0004c0005t0004g0011 others(12): Show |
15 | 96 | 0.1563 | -7 | c.-57 others(26): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERBIN_chr5_65921575_66087546 | 65974524 | CCTGTTAT | C | intron_variant | MODIFIER | HG02723.hp1 HG02922.hp1 HG03195.hp2 others(1): Show |
a0007a0008 | a0007c0011a0008c0012 | a0007c0011t0011a0008c0012t0011 | a0007c0011t0011g0025 a0007c0011t0011g0026 a0008c0012t0011g0023 others(1): Show |
4 | 304 | 0.0132 | -7 | c.-57 others(26): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1002160 | CTTTTTTT | C | intron_variant | MODIFIER | HG01106.hp2 HG01257.hp1 HG01346.hp1 others(20): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0008 | a0001c0001t0013a0001c0001t0019a0001c0001t0020others(15): Show | a0001c0001t0013g0041 a0001c0001t0019g0144 a0001c0001t0019g0157 others(20): Show |
23 | 41 | 0.5610 | -7 | c.-15 others(28): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1179500 | CTTTTTTT | C | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00741.hp1 others(24): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0002c0006others(2): Show | a0001c0001t0005a0001c0001t0006a0001c0001t0009others(17): Show | a0001c0001t0005g0109 a0001c0001t0005g0111 a0001c0001t0005g0118 others(24): Show |
27 | 101 | 0.2673 | -7 | c.173 others(26): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1196976 | ATTTTTTT | A | intron_variant | MODIFIER | HG00639.hp2 HG01109.hp1 HG01358.hp2 others(18): Show |
a0002a0005 | a0002c0002a0005c0010 | a0002c0002t0009a0002c0002t0010a0002c0002t0011others(9): Show | a0002c0002t0009g0149 a0002c0002t0009g0152 a0002c0002t0010g0087 others(18): Show |
21 | 74 | 0.2838 | -7 | c.235 others(26): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1241847 | CTTTTTTT | C | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00738.hp1 others(25): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0006others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(16): Show | a0001c0001t0002g0028 a0001c0001t0002g0032 a0001c0001t0003g0029 others(25): Show |
28 | 90 | 0.3111 | -7 | c.248 others(26): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1243149 | TGCAGTCC | T | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00738.hp1 others(28): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0006others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(18): Show | a0001c0001t0002g0028 a0001c0001t0002g0032 a0001c0001t0003g0029 others(28): Show |
31 | 160 | 0.1938 | -7 | c.248 others(26): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1356212 | AAGTGTGT | A | intron_variant | MODIFIER | HG01081.hp1 HG01891.hp1 HG02280.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0013a0001c0001t0027a0001c0001t0053others(2): Show | a0001c0001t0013g0041 a0001c0001t0027g0094 a0001c0001t0053g0039 others(2): Show |
5 | 101 | 0.0495 | -7 | c.278 others(28): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 15/18 | chr12 | TogoVar | |||||||
ERC1_chr12_986223_1500931 | 1386031 | CTTTTTTT | C | intron_variant | MODIFIER | HG00639.hp2 HG01106.hp2 HG01109.hp1 others(36): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0002c0007others(2): Show | a0001c0001t0001a0001c0001t0020a0001c0001t0038others(28): Show | a0001c0001t0001g0086 a0001c0001t0020g0141 a0001c0001t0038g0150 others(36): Show |
39 | 75 | 0.5200 | -7 | c.292 others(28): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 16/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1398954 | TTTTTTTG | T | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG01261.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(8): Show | a0001c0001t0003g0034 a0001c0001t0004g0024 a0001c0001t0005g0118 others(11): Show |
14 | 160 | 0.0875 | -7 | c.292 others(26): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 16/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1400909 | TTTTTGTA | T | intron_variant | MODIFIER | HG00738.hp1 HG01192.hp2 HG01433.hp1 others(8): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0006others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0070others(5): Show | a0001c0001t0002g0028 a0001c0001t0002g0032 a0001c0001t0003g0029 others(8): Show |
11 | 160 | 0.0688 | -7 | c.292 others(26): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 16/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1418661 | CTTTCTTT | C | intron_variant | MODIFIER | HG02895.hp1 HG02922.hp2 HG06807.hp1 others(1): Show |
a0002a0008 | a0002c0002a0008c0011 | a0002c0002t0022a0002c0002t0034a0002c0002t0073others(1): Show | a0002c0002t0022g0139 a0002c0002t0034g0158 a0002c0002t0073g0052 others(1): Show |
4 | 155 | 0.0258 | -7 | c.302 others(28): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1487372 | ATTTTTTT | A | intron_variant | MODIFIER | HG00639.hp2 HG01109.hp1 HG01257.hp1 others(3): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0010 | a0001c0001t0020a0002c0002t0033a0002c0002t0040others(3): Show | a0001c0001t0020g0141 a0002c0002t0033g0143 a0002c0002t0040g0070 others(3): Show |
6 | 33 | 0.1818 | -7 | c.321 others(26): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 55571124 | CAAAAAAA | C | intron_variant | MODIFIER | HG02630.hp1 HG02970.hp2 HG03831.hp2 others(2): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0002a0001c0001t0009a0001c0002t0001others(1): Show | a0001c0001t0002g0049 a0001c0001t0009g0072 a0001c0002t0001g0017 others(2): Show |
5 | 33 | 0.1515 | -7 | c.*40 others(26): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 17/17 | chr3 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 55613982 | CAAAAAAA | C | intron_variant | MODIFIER | HG01167.hp1 HG02630.hp1 HG02809.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0004 a0001c0001t0002g0029 a0001c0001t0002g0054 others(7): Show |
10 | 18 | 0.5556 | -7 | c.*39 others(26): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 17/17 | chr3 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 55887454 | TTTCAAAG | T | intron_variant | MODIFIER | HG02258.hp2 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 a0001c0001t0002g0021 |
2 | 72 | 0.0278 | -7 | c.256 others(24): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 14/17 | chr3 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 55952166 | CACACACA | C | intron_variant | MODIFIER | HG01169.hp2 HG02145.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 a0001c0001t0001g0050 |
2 | 62 | 0.0323 | -7 | c.226 others(26): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 12/17 | chr3 | TogoVar | |||||||
ERCC1_chr19_45402334_45428917 | 45411849 | ATTTTTGG | A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00423.hp2 others(153): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(12): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0011 others(123): Show |
156 | 418 | 0.3732 | -7 | c.843 others(24): Show |
ERCC1 | ENSG00000012061.17 | transcript | ENST00000300853.8 | protein_coding | 9/9 | chr19 | TogoVar | |||||||
ERCC1_chr19_45402334_45428917 | 45425082 | ATTTTTTT | A | upstream_gene_variant | MODIFIER | HG01099.hp2 HG01884.hp2 HG02055.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0025others(4): Show | a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0197 others(20): Show |
30 | 124 | 0.2419 | -7 | c.-13 others(18): Show |
ERCC1 | ENSG00000012061.17 | transcript | ENST00000300853.8 | protein_coding | 1166 | chr19 | TogoVar | |||||||
ERCC3_chr2_127252290_127299144 | 127266709 | ATTTTTTT | A | intron_variant | MODIFIER | HG01433.hp2 HG02698.hp2 HG02886.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(1): Show |
6 | 229 | 0.0262 | -7 | c.194 others(26): Show |
ERCC3 | ENSG00000163161.14 | transcript | ENST00000285398.7 | protein_coding | 12/14 | chr2 | TogoVar | |||||||
ERCC3_chr2_127252290_127299144 | 127295967 | TAAAAAAA | T | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01070.hp2 NA18747.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0026 others(5): Show |
8 | 195 | 0.0410 | -7 | c.-18 others(18): Show |
ERCC3 | ENSG00000163161.14 | transcript | ENST00000285398.7 | protein_coding | 1824 | chr2 | TogoVar | |||||||
ERCC6L2_chr9_95870691_96023447 | 95903631 | TTAGAAAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(95): Show |
a0001a0008a0012others(6): Show | a0001c0001a0008c0010a0012c0026others(6): Show | a0001c0001t0001a0001c0001t0014a0001c0001t0019others(22): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(90): Show |
98 | 390 | 0.2513 | -7 | c.595 others(24): Show |
ERCC6L2 | ENSG00000182150.19 | transcript | ENST00000653738.2 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ERCC6L2_chr9_95870691_96023447 | 95923942 | GGGTGGGA | G | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG00639.hp2 others(30): Show |
a0001a0012a0013 | a0001c0001a0012c0026a0013c0016 | a0001c0001t0001a0001c0001t0014a0001c0001t0019others(7): Show | a0001c0001t0001g0018 a0001c0001t0001g0027 a0001c0001t0001g0034 others(30): Show |
33 | 390 | 0.0846 | -7 | c.153 others(24): Show |
ERCC6L2 | ENSG00000182150.19 | transcript | ENST00000653738.2 | protein_coding | 9/18 | chr9 | TogoVar | |||||||
ERCC6L2_chr9_95870691_96023447 | 96002860 | TTTTTCAG | T | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp1 HG02647.hp2 others(3): Show |
a0009a0010a0017others(1): Show | a0009c0011a0010c0012a0017c0024others(1): Show | a0009c0011t0020a0010c0012t0020a0017c0024t0074others(1): Show | a0009c0011t0020g0017 a0010c0012t0020g0368 a0010c0012t0020g0369 others(2): Show |
6 | 390 | 0.0154 | -7 | c.349 others(26): Show |
ERCC6L2 | ENSG00000182150.19 | transcript | ENST00000653738.2 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ERCC6_chr10_49449470_49544121 | 49484670 | TTAGAGTC | T | intron_variant | MODIFIER | HG02809.hp2 HG02886.hp1 HG03195.hp2 |
a0013a0017 | a0013c0016a0017c0026 | a0013c0016t0018a0017c0026t0030 | a0013c0016t0018g0048 a0017c0026t0030g0309 |
3 | 386 | 0.0078 | -7 | c.182 others(26): Show |
ERCC6 | ENSG00000225830.16 | transcript | ENST00000355832.10 | protein_coding | 8/20 | chr10 | TogoVar |