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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ERBB4_chr2_211370717_212543802 | 211673517 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0008 | 1 | 56 | 0.0179 | 15 | c.162 others(32): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 13/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 211721443 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0023 | 1 | 56 | 0.0179 | 15 | c.883 others(30): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 7/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 211861081 | T | TATATTAT others(8): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0056 | 1 | 56 | 0.0179 | 15 | c.422 others(34): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 3/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 211934926 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02922.hp1 HG03195.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0010a0001c0001t0011others(1): Show | a0001c0001t0005g0035 a0001c0001t0005g0044 a0001c0001t0010g0005 others(2): Show |
5 | 56 | 0.0893 | 15 | c.421 others(34): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 3/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 211944181 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01891.hp2 NA18522.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0024a0001c0002t0001 | a0001c0001t0005g0035 a0001c0001t0024g0038 a0001c0002t0001g0030 |
3 | 56 | 0.0536 | 15 | c.421 others(32): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 3/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212003148 | G | GAAAGAAA others(8): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 56 | 0.0179 | 15 | c.235 others(34): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 2/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212185030 | T | TTCTTTTT others(8): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02615.hp1 HG02717.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0002g0016 a0001c0001t0002g0025 a0001c0001t0003g0017 others(7): Show |
10 | 56 | 0.1786 | 15 | c.83- others(32): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212240637 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0036 | 1 | 56 | 0.0179 | 15 | c.83- others(34): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212240665 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0026 | 1 | 56 | 0.0179 | 15 | c.83- others(34): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212286594 | C | CTTGTTTT others(8): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01192.hp2 HG01243.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0015a0001c0002t0001others(1): Show | a0001c0001t0002g0032 a0001c0001t0015g0034 a0001c0002t0001g0030 others(2): Show |
5 | 56 | 0.0893 | 15 | c.83- others(34): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212286594 | C | CTTGTTTT others(8): Show |
intron_variant | MODIFIER | HG03579.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0028 | a0001c0001t0004g0033 a0001c0001t0028g0053 |
2 | 56 | 0.0357 | 15 | c.83- others(34): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212286767 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02145.hp2 HG02615.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0002a0001c0001t0006a0001c0001t0014others(5): Show | a0001c0001t0002g0025 a0001c0001t0006g0026 a0001c0001t0014g0007 others(5): Show |
8 | 56 | 0.1429 | 15 | c.83- others(34): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212474822 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0002 | a0001c0002t0018 | a0001c0002t0018g0010 | 1 | 56 | 0.0179 | 15 | c.82+ others(32): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212537150 | C | CGGCGGCG others(8): Show |
intron_variant | MODIFIER | HG02809.hp2 HG02895.hp2 HG03225.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(2): Show | a0001c0001t0003g0040 a0001c0001t0006g0039 a0001c0001t0007g0043 others(3): Show |
6 | 56 | 0.1071 | 15 | c.82+ others(30): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212537150 | C | CGGCGGCG others(8): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 56 | 0.0179 | 15 | c.82+ others(30): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ERBIN_chr5_65921575_66087546 | 65939524 | T | TTCCCTCT others(8): Show |
intron_variant | MODIFIER | HG00609.hp1 NA18950.hp2 NA18955.hp2 others(1): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0001a0006c0008t0003 | a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0160 others(1): Show |
4 | 306 | 0.0131 | 15 | c.-58 others(34): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERBIN_chr5_65921575_66087546 | 65964945 | T | TGTGTGTG others(8): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0007 | a0001c0007t0010 | a0001c0007t0010g0275 | 1 | 306 | 0.0033 | 15 | c.-57 others(34): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 1/25 | chr5 | TogoVar | |||||||
ERC1_chr12_986223_1500931 | 1164231 | T | TTTTTATT others(8): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01261.hp1 HG01993.hp1 others(8): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0008 | a0001c0001t0019a0001c0001t0045a0001c0001t0083others(8): Show | a0001c0001t0019g0120 a0001c0001t0045g0066 a0001c0001t0083g0130 others(8): Show |
11 | 162 | 0.0679 | 15 | c.173 others(36): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1225449 | T | TAAAACAC others(8): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01346.hp1 |
a0001 | a0001c0001 | a0001c0001t0040a0001c0001t0124 | a0001c0001t0040g0150 a0001c0001t0124g0050 |
2 | 162 | 0.0124 | 15 | c.235 others(36): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1310214 | A | ATTTTGTT others(8): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00738.hp1 HG01175.hp2 others(25): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0004others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(23): Show | a0001c0001t0003g0029 a0001c0001t0004g0075 a0001c0001t0005g0041 others(25): Show |
28 | 162 | 0.1728 | 15 | c.278 others(36): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1341069 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0095 | a0001c0001t0095g0019 | 1 | 162 | 0.0062 | 15 | c.278 others(36): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1345187 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0002 | a0002c0002t0037 | a0002c0002t0037g0042 | 1 | 162 | 0.0062 | 15 | c.278 others(36): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1346948 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0138 | a0001c0001t0001g0080 a0001c0001t0138g0095 |
2 | 162 | 0.0124 | 15 | c.278 others(36): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1356212 | A | AGTGTGTG others(8): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0002 | a0002c0002 | a0002c0002t0140 | a0002c0002t0140g0108 | 1 | 162 | 0.0062 | 15 | c.278 others(36): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 15/18 | chr12 | TogoVar | |||||||
ERC1_chr12_986223_1500931 | 1386651 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01257.hp1 HG01346.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0058a0001c0001t0074a0001c0001t0133others(13): Show | a0001c0001t0058g0141 a0001c0001t0074g0039 a0001c0001t0133g0094 others(14): Show |
17 | 162 | 0.1049 | 15 | c.292 others(36): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 16/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1402614 | A | AACACCAC others(8): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02647.hp2 HG03579.hp1 others(1): Show |
a0001a0002a0007others(1): Show | a0001c0001a0002c0002a0007c0012others(1): Show | a0001c0001t0049a0002c0002t0017a0007c0012t0073others(1): Show | a0001c0001t0049g0157 a0002c0002t0017g0097 a0007c0012t0073g0067 others(1): Show |
4 | 162 | 0.0247 | 15 | c.292 others(34): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 16/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1493546 | A | ATATATAT others(8): Show |
3_prime_UTR_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0091 | a0001c0001t0091g0028 | 1 | 162 | 0.0062 | 15 | c.*33 others(26): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 19/19 | 3317 | chr12 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 55691567 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0030 | 1 | 74 | 0.0135 | 15 | c.284 others(34): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 16/17 | chr3 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 55729837 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0058 | 1 | 74 | 0.0135 | 15 | c.271 others(34): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 15/17 | chr3 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 56126807 | G | GAAGGAAA others(8): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01099.hp1 HG01934.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0033 a0001c0001t0001g0059 a0001c0001t0001g0061 others(16): Show |
19 | 74 | 0.2568 | 15 | c.147 others(36): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 6/17 | chr3 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 56204476 | C | CTTTTATT others(8): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01069.hp1 HG01071.hp1 others(20): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0033 others(20): Show |
23 | 74 | 0.3108 | 15 | c.107 others(36): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 3/17 | chr3 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 56252757 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 74 | 0.0135 | 15 | c.107 others(36): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 3/17 | chr3 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 56276459 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01346.hp2 HG02040.hp1 HG02145.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0050 a0001c0001t0002g0036 a0001c0001t0002g0049 others(2): Show |
5 | 74 | 0.0676 | 15 | c.107 others(36): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 3/17 | chr3 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 56282678 | G | GTGCTGCT others(8): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0074 | 1 | 74 | 0.0135 | 15 | c.107 others(36): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 3/17 | chr3 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 56428558 | A | AGGGAGGG others(8): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0067 | 1 | 74 | 0.0135 | 15 | c.657 others(32): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 2/17 | chr3 | TogoVar | |||||||
ERCC1_chr19_45402334_45428917 | 45410563 | C | CGTGTGTG others(8): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0086 | 1 | 420 | 0.0024 | 15 | c.844 others(30): Show |
ERCC1 | ENSG00000012061.17 | transcript | ENST00000300853.8 | protein_coding | 9/9 | chr19 | TogoVar | |||||||
ERCC2_chr19_45344837_45375573 | 45375534 | A | ATATTTTA others(8): Show |
upstream_gene_variant | MODIFIER | HG00621.hp2 NA18983.hp1 NA18988.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002 a0001c0001t0001g0142 a0001c0001t0002g0146 others(1): Show |
8 | 412 | 0.0194 | 15 | c.-49 others(26): Show |
ERCC2 | ENSG00000104884.17 | transcript | ENST00000391945.10 | protein_coding | 4962 | chr19 | TogoVar | |||||||
ERCC6L2_chr9_95870691_96023447 | 95952166 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0010 | a0010c0012 | a0010c0012t0020 | a0010c0012t0020g0370 | 1 | 392 | 0.0026 | 15 | c.184 others(34): Show |
ERCC6L2 | ENSG00000182150.19 | transcript | ENST00000653738.2 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ERCC6L_chrX_72199665_72244027 | 72233721 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00558.hp1 HG00597.hp2 others(69): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0007 others(43): Show |
72 | 286 | 0.2518 | 15 | c.68+ others(30): Show |
ERCC6L | ENSG00000186871.7 | transcript | ENST00000334463.4 | protein_coding | 1/1 | chrX | TogoVar | |||||||
EREG_chr4_74360145_74393749 | 74363493 | C | CTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 HG01081.hp2 HG03225.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0013 | a0001c0001t0001g0039 a0001c0001t0001g0097 a0001c0001t0001g0098 others(7): Show |
11 | 358 | 0.0307 | 15 | c.-18 others(26): Show |
EREG | ENSG00000124882.4 | transcript | ENST00000244869.3 | protein_coding | 1651 | chr4 | TogoVar | |||||||
ERFL_chr19_41902704_41933449 | 41914572 | T | TCTCCCTC others(8): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 330 | 0.0030 | 15 | c.-13 others(32): Show |
ERFL | ENSG00000268041.3 | transcript | ENST00000597630.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
ERFL_chr19_41902704_41933449 | 41914634 | T | TCCCTCCC others(8): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0230 | 1 | 330 | 0.0030 | 15 | c.-13 others(32): Show |
ERFL | ENSG00000268041.3 | transcript | ENST00000597630.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
ERFL_chr19_41902704_41933449 | 41920485 | A | ACACACAG others(8): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 330 | 0.0030 | 15 | c.-14 others(32): Show |
ERFL | ENSG00000268041.3 | transcript | ENST00000597630.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
ERGIC1_chr5_172829251_172957683 | 172885706 | T | TCCTGCTG others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(40): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0019 a0001c0001t0001g0048 a0001c0001t0001g0115 others(40): Show |
43 | 334 | 0.1287 | 15 | c.21- others(30): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERGIC1_chr5_172829251_172957683 | 172908318 | G | GGGGGGGG others(8): Show |
intron_variant | MODIFIER | HG02970.hp1 NA18962.hp1 NA19012.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0026 a0001c0001t0001g0237 a0001c0001t0002g0226 |
3 | 334 | 0.0090 | 15 | c.156 others(32): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 3/9 | chr5 | TogoVar | |||||||
ERGIC1_chr5_172829251_172957683 | 172908325 | G | GGGAGGAG others(8): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0224 | 1 | 334 | 0.0030 | 15 | c.156 others(32): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERGIC1_chr5_172829251_172957683 | 172908344 | G | GGGGGGGG others(8): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0054 | 1 | 334 | 0.0030 | 15 | c.156 others(32): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERGIC3_chr20_35537078_35562634 | 35539325 | T | TTGTATAT others(8): Show |
upstream_gene_variant | MODIFIER | HG02723.hp2 HG02922.hp2 HG03098.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0003 | a0001c0003t0001g0048 a0001c0003t0001g0223 a0001c0003t0003g0222 |
4 | 364 | 0.0110 | 15 | c.-27 others(26): Show |
ERGIC3 | ENSG00000125991.21 | transcript | ENST00000348547.7 | protein_coding | 2752 | chr20 | TogoVar | |||||||
ERGIC3_chr20_35537078_35562634 | 35553020 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00741.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0040 a0001c0001t0001g0052 others(14): Show |
22 | 364 | 0.0604 | 15 | c.686 others(32): Show |
ERGIC3 | ENSG00000125991.21 | transcript | ENST00000348547.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ERG_chr21_38375036_38503477 | 38406154 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01169.hp2 HG01884.hp1 HG02056.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0120 a0001c0001t0001g0290 a0001c0001t0002g0246 others(8): Show |
11 | 360 | 0.0306 | 15 | c.389 others(32): Show |
ERG | ENSG00000157554.20 | transcript | ENST00000288319.12 | protein_coding | 3/9 | chr21 | TogoVar |