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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EPHB3_chr3_184556785_184587408 | 184585958 | ATCAATGC others(11): Show |
A | downstream_gene_variant | MODIFIER | NA18944.hp2 NA19091.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0071 a0001c0003t0002g0072 |
2 | 358 | 0.0056 | -18 | c.*43 others(29): Show |
EPHB3 | ENSG00000182580.3 | transcript | ENST00000330394.3 | protein_coding | 3551 | chr3 | TogoVar | |||||||
EPHX2_chr8_27486143_27550564 | 27490699 | GACACACA others(11): Show |
G | upstream_gene_variant | MODIFIER | HG02572.hp1 HG02809.hp2 HG02895.hp2 others(4): Show |
a0001 | a0001c0005 | a0001c0005t0002a0001c0005t0003 | a0001c0005t0002g0077 a0001c0005t0002g0079 a0001c0005t0002g0081 others(4): Show |
7 | 374 | 0.0187 | -18 | c.-50 others(27): Show |
EPHX2 | ENSG00000120915.14 | transcript | ENST00000521400.6 | protein_coding | 443 | chr8 | TogoVar | |||||||
EPHX2_chr8_27486143_27550564 | 27501324 | TTTCTTCT others(11): Show |
T | intron_variant | MODIFIER | HG02698.hp1 HG03139.hp2 HG04199.hp2 |
a0001 | a0001c0001a0001c0002a0001c0026 | a0001c0001t0001a0001c0002t0002a0001c0026t0001 | a0001c0001t0001g0192 a0001c0002t0002g0284 a0001c0026t0001g0285 |
3 | 374 | 0.0080 | -18 | c.186 others(33): Show |
EPHX2 | ENSG00000120915.14 | transcript | ENST00000521400.6 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
EPHX2_chr8_27486143_27550564 | 27525095 | TGTGTGTG others(11): Show |
T | intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0013 | a0001c0013t0006 | a0001c0013t0006g0020 | 1 | 374 | 0.0027 | -18 | c.105 others(35): Show |
EPHX2 | ENSG00000120915.14 | transcript | ENST00000521400.6 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
EPHX4_chr1_92024985_92068538 | 92064727 | CAAAAAAA others(11): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG01081.hp2 HG02109.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0124 a0001c0001t0002g0190 a0001c0001t0002g0200 others(2): Show |
5 | 236 | 0.0212 | -18 | c.*14 others(29): Show |
EPHX4 | ENSG00000172031.7 | transcript | ENST00000370383.5 | protein_coding | 1190 | chr1 | TogoVar | |||||||
EPM2A_chr6_145620305_145740520 | 145696775 | ATGTGTGT others(11): Show |
A | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0029 | 1 | 320 | 0.0031 | -18 | c.302 others(37): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
EPN2_chr17_19232366_19341715 | 19276360 | ATTTTTTT others(11): Show |
A | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 282 | 0.0036 | -18 | c.-29 others(37): Show |
EPN2 | ENSG00000072134.16 | transcript | ENST00000314728.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
EPOP_chr17_38666703_38679957 | 38676561 | TACACACA others(11): Show |
T | upstream_gene_variant | MODIFIER | NA18956.hp1 NA18956.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 351 | 0.0057 | -18 | c.-20 others(29): Show |
EPOP | ENSG00000273604.2 | transcript | ENST00000621654.2 | protein_coding | 1605 | chr17 | TogoVar | |||||||
EPRS1_chr1_219963600_220051505 | 219989516 | GGAGGTAT others(11): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG02280.hp2 HG03139.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0347 a0001c0001t0002g0348 a0001c0001t0002g0349 others(1): Show |
4 | 358 | 0.0112 | -18 | c.254 others(35): Show |
EPRS1 | ENSG00000136628.18 | transcript | ENST00000366923.8 | protein_coding | 18/31 | chr1 | TogoVar | |||||||
EPRS1_chr1_219963600_220051505 | 220020824 | TTATATAT others(11): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00609.hp1 HG00609.hp2 others(40): Show |
a0001a0003a0010others(1): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0002a0001c0002t0001a0001c0004t0001others(4): Show | a0001c0001t0002g0012 a0001c0001t0002g0040 a0001c0001t0002g0055 others(39): Show |
43 | 358 | 0.1201 | -18 | c.111 others(35): Show |
EPRS1 | ENSG00000136628.18 | transcript | ENST00000366923.8 | protein_coding | 9/31 | chr1 | TogoVar | |||||||
EPS15L1_chr19_16350247_16476970 | 16393077 | TATAATAA others(11): Show |
T | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 276 | 0.0036 | -18 | c.196 others(35): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 18/23 | chr19 | TogoVar | |||||||
EPS15L1_chr19_16350247_16476970 | 16401390 | TTCCAGGG others(11): Show |
T | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 276 | 0.0036 | -18 | c.179 others(35): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | TogoVar | |||||||
EPS15_chr1_51349263_51524266 | 51415796 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0001 | a0002c0001t0009 | a0002c0001t0009g0116 | 1 | 152 | 0.0066 | -18 | c.111 others(37): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | TogoVar | |||||||
EPS15_chr1_51349263_51524266 | 51431011 | CACACACA others(11): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG00735.hp2 HG01257.hp2 others(3): Show |
a0002 | a0002c0001 | a0002c0001t0007a0002c0001t0009 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(3): Show |
6 | 152 | 0.0395 | -18 | c.104 others(37): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | TogoVar | |||||||
EPS15_chr1_51349263_51524266 | 51491674 | AGAACAAC others(11): Show |
A | intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0065 | 1 | 152 | 0.0066 | -18 | c.34- others(35): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | TogoVar | |||||||
EPSTI1_chr13_42881388_42997241 | 42933692 | AGCCTCCT others(11): Show |
A | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0245 | 1 | 352 | 0.0028 | -18 | c.564 others(35): Show |
EPSTI1 | ENSG00000133106.15 | transcript | ENST00000313624.12 | protein_coding | 6/10 | chr13 | TogoVar | |||||||
EPSTI1_chr13_42881388_42997241 | 42942658 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp2 others(104): Show |
a0001a0003a0007others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(40): Show | a0001c0001t0002g0223 a0001c0001t0002g0284 a0001c0001t0002g0300 others(104): Show |
107 | 352 | 0.3040 | -18 | c.563 others(37): Show |
EPSTI1 | ENSG00000133106.15 | transcript | ENST00000313624.12 | protein_coding | 6/10 | chr13 | TogoVar | |||||||
ERAL1_chr17_28850016_28866061 | 28864974 | AGGAGGCA others(11): Show |
A | downstream_gene_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0033 | 1 | 380 | 0.0026 | -18 | c.*44 others(29): Show |
ERAL1 | ENSG00000132591.12 | transcript | ENST00000254928.10 | protein_coding | 3914 | chr17 | TogoVar | |||||||
ERAP1_chr5_96769484_96812945 | 96783838 | CACACACA others(11): Show |
C | intron_variant | MODIFIER | HG02129.hp2 HG02922.hp1 HG02970.hp2 |
a0004a0009a0021 | a0004c0004a0009c0030a0021c0023 | a0004c0004t0001a0009c0030t0009a0021c0023t0009 | a0004c0004t0001g0299 a0009c0030t0009g0094 a0021c0023t0009g0316 |
3 | 416 | 0.0072 | -18 | c.210 others(33): Show |
ERAP1 | ENSG00000164307.13 | transcript | ENST00000443439.7 | protein_coding | 14/18 | chr5 | TogoVar | |||||||
ERAP1_chr5_96769484_96812945 | 96808187 | CGTGTGTG others(11): Show |
C | upstream_gene_variant | MODIFIER | HG00423.hp1 HG01993.hp1 HG02602.hp1 others(11): Show |
a0002a0003a0004others(2): Show | a0002c0002a0003c0003a0004c0004others(2): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0018others(5): Show | a0002c0002t0001g0219 a0002c0002t0001g0230 a0002c0002t0001g0247 others(10): Show |
14 | 416 | 0.0337 | -18 | c.-36 others(27): Show |
ERAP1 | ENSG00000164307.13 | transcript | ENST00000443439.7 | protein_coding | 243 | chr5 | TogoVar | |||||||
ERAP2_chr5_96871500_96924703 | 96874162 | GAAAGAAA others(11): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00735.hp1 others(24): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0004a0001c0022others(3): Show | a0001c0001t0001a0001c0001t0027a0001c0004t0007others(5): Show | a0001c0001t0001g0005 a0001c0001t0001g0043 a0001c0001t0001g0110 others(21): Show |
27 | 398 | 0.0678 | -18 | c.-24 others(29): Show |
ERAP2 | ENSG00000164308.17 | transcript | ENST00000437043.8 | protein_coding | 2337 | chr5 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 211392235 | AAATTATA others(11): Show |
A | intron_variant | MODIFIER | HG02615.hp1 HG03471.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0025 | a0001c0001t0006g0026 a0001c0001t0006g0039 a0001c0001t0025g0051 |
3 | 56 | 0.0536 | -18 | c.313 others(37): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 25/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 211622988 | AAAATATA others(11): Show |
A | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0054 | 1 | 56 | 0.0179 | -18 | c.220 others(35): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 18/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 211622990 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0014 | a0001c0001t0005g0035 a0001c0001t0014g0007 |
2 | 56 | 0.0357 | -18 | c.220 others(35): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 18/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 211772820 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG01175.hp1 HG01192.hp1 HG01496.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0005a0001c0001t0008others(4): Show | a0001c0001t0004g0011 a0001c0001t0005g0044 a0001c0001t0008g0004 others(5): Show |
8 | 56 | 0.1429 | -18 | c.556 others(37): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 4/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 211773598 | TTATATAT others(11): Show |
T | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0033 | 1 | 56 | 0.0179 | -18 | c.556 others(37): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 4/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 211868217 | TGAAAGTT others(11): Show |
T | intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0043 | 1 | 56 | 0.0179 | -18 | c.421 others(37): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 3/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212015039 | AAAATATA others(11): Show |
A | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0051 | 1 | 56 | 0.0179 | -18 | c.235 others(37): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 2/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212062399 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0046 | 1 | 56 | 0.0179 | -18 | c.234 others(37): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 2/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212446578 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02258.hp1 HG03453.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0009a0001c0002t0001 | a0001c0001t0002g0047 a0001c0001t0009g0023 a0001c0002t0001g0020 others(1): Show |
4 | 56 | 0.0714 | -18 | c.82+ others(35): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ERBIN_chr5_65921575_66087546 | 65965382 | GTTTTTTT others(11): Show |
G | intron_variant | MODIFIER | HG03704.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0283 | 1 | 306 | 0.0033 | -18 | c.-57 others(37): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERBIN_chr5_65921575_66087546 | 66065591 | CTGTGTGT others(11): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00621.hp2 HG01069.hp1 others(28): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0013others(7): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(28): Show |
31 | 306 | 0.1013 | -18 | c.363 others(37): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 21/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERBIN_chr5_65921575_66087546 | 66077759 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG02559.hp1 | a0012 | a0012c0026 | a0012c0026t0001 | a0012c0026t0001g0087 | 1 | 306 | 0.0033 | -18 | c.413 others(35): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 25/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1090866 | GTTATTAT others(11): Show |
G | intron_variant | MODIFIER | HG01109.hp2 | a0002 | a0002c0002 | a0002c0002t0026 | a0002c0002t0026g0115 | 1 | 162 | 0.0062 | -18 | c.108 others(37): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1122031 | CTATCTCT others(11): Show |
C | intron_variant | MODIFIER | HG02809.hp1 HG02896.hp2 |
a0002 | a0002c0002 | a0002c0002t0075a0002c0002t0140 | a0002c0002t0075g0073 a0002c0002t0140g0108 |
2 | 162 | 0.0124 | -18 | c.156 others(37): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1122223 | ATCTCTAT others(11): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02965.hp1 HG03516.hp1 |
a0002a0006 | a0002c0002a0006c0008 | a0002c0002t0047a0002c0002t0055a0006c0008t0041 | a0002c0002t0047g0104 a0002c0002t0055g0137 a0006c0008t0041g0140 |
3 | 162 | 0.0185 | -18 | c.156 others(37): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1122421 | ATCTCTAT others(11): Show |
A | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0066 | 1 | 162 | 0.0062 | -18 | c.156 others(37): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1143329 | CGTGTGTG others(11): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01257.hp1 HG01891.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0058a0002c0002t0048a0002c0002t0055others(2): Show | a0001c0001t0058g0141 a0002c0002t0048g0070 a0002c0002t0055g0137 others(2): Show |
5 | 162 | 0.0309 | -18 | c.173 others(37): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1154213 | GTATGTAT others(11): Show |
G | intron_variant | MODIFIER | HG01081.hp1 | a0002 | a0002c0002 | a0002c0002t0099 | a0002c0002t0099g0131 | 1 | 162 | 0.0062 | -18 | c.173 others(39): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1196905 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0123 | a0001c0001t0123g0047 | 1 | 162 | 0.0062 | -18 | c.235 others(37): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1289084 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02622.hp1 |
a0002 | a0002c0002 | a0002c0002t0038a0002c0002t0048 | a0002c0002t0038g0082 a0002c0002t0048g0070 |
2 | 162 | 0.0124 | -18 | c.262 others(35): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1341069 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG02615.hp2 HG02622.hp1 HG02976.hp2 others(2): Show |
a0001a0002a0007others(1): Show | a0001c0001a0002c0002a0007c0012others(1): Show | a0001c0001t0049a0002c0002t0035a0002c0002t0038others(2): Show | a0001c0001t0049g0157 a0002c0002t0035g0143 a0002c0002t0038g0082 others(2): Show |
5 | 162 | 0.0309 | -18 | c.278 others(39): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1373799 | AAGAAAAG others(11): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01106.hp2 HG01109.hp1 others(45): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0013a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(43): Show | a0001c0001t0001g0076 a0001c0001t0004g0078 a0001c0001t0008g0086 others(45): Show |
48 | 162 | 0.2963 | -18 | c.292 others(37): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 16/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1400908 | ATTTTTGT others(11): Show |
A | intron_variant | MODIFIER | HG01346.hp2 HG01884.hp2 HG06807.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0031a0002c0002t0001a0002c0002t0072others(2): Show | a0001c0001t0031g0118 a0002c0002t0001g0149 a0002c0002t0072g0145 others(2): Show |
5 | 162 | 0.0309 | -18 | c.292 others(37): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 16/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1440600 | TTGTGTGT others(11): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01106.hp2 HG02735.hp2 others(4): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0010 | a0001c0001t0015a0001c0001t0045a0001c0001t0126others(3): Show | a0001c0001t0015g0023 a0001c0001t0015g0038 a0001c0001t0045g0066 others(4): Show |
7 | 162 | 0.0432 | -18 | c.302 others(37): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1486730 | ATCACTCC others(11): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02055.hp1 HG02109.hp1 others(15): Show |
a0002 | a0002c0002 | a0002c0002t0006a0002c0002t0036a0002c0002t0039others(14): Show | a0002c0002t0006g0122 a0002c0002t0006g0125 a0002c0002t0036g0158 others(15): Show |
18 | 162 | 0.1111 | -18 | c.321 others(37): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 18/18 | chr12 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 55653564 | AGTGTGTG others(11): Show |
A | intron_variant | MODIFIER | HG02922.hp1 NA19043.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0001 | a0001c0001t0002g0019 a0001c0004t0001g0031 |
2 | 74 | 0.0270 | -18 | c.*39 others(37): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 17/17 | chr3 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 55691561 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 74 | 0.0135 | -18 | c.284 others(37): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 16/17 | chr3 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 55714663 | GTGTGTAT others(11): Show |
G | intron_variant | MODIFIER | HG02258.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0035 |
2 | 74 | 0.0270 | -18 | c.271 others(39): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 15/17 | chr3 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 55714665 | GTGTATAT others(11): Show |
G | intron_variant | MODIFIER | HG02965.hp1 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 a0001c0001t0002g0072 |
2 | 74 | 0.0270 | -18 | c.271 others(39): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 15/17 | chr3 | TogoVar |