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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EPHB1_chr3_134790260_135265467 | 134882765 | C | CCTTTCTT others(21): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0014 | 1 | 15 | 0.0667 | 28 | c.59- others(45): Show |
EPHB1 | ENSG00000154928.19 | transcript | ENST00000398015.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EPHB1_chr3_134790260_135265467 | 135076260 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 |
a0001 | a0001c0005 | a0001c0005t0013 | a0001c0005t0013g0126 a0001c0005t0013g0127 |
2 | 116 | 0.0172 | 28 | c.806 others(47): Show |
EPHB1 | ENSG00000154928.19 | transcript | ENST00000398015.8 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EPHB1_chr3_134790260_135265467 | 135076261 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0022 | 1 | 124 | 0.0081 | 28 | c.806 others(47): Show |
EPHB1 | ENSG00000154928.19 | transcript | ENST00000398015.8 | protein_coding | 3/15 | chr3 | TogoVar | |||||||
EPHB1_chr3_134790260_135265467 | 135183026 | T | TTTTCTTT others(21): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0116 | 1 | 97 | 0.0103 | 28 | c.188 others(47): Show |
EPHB1 | ENSG00000154928.19 | transcript | ENST00000398015.8 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EPHB4_chr7_100797565_100832523 | 100799251 | T | TTTCCTTC others(21): Show |
downstream_gene_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0160 | 1 | 209 | 0.0048 | 28 | c.*42 others(39): Show |
EPHB4 | ENSG00000196411.10 | transcript | ENST00000358173.8 | protein_coding | 3313 | chr7 | TogoVar | |||||||
EPHX4_chr1_92024985_92068538 | 92030483 | T | TGTGTGTG others(21): Show |
intron_variant | MODIFIER | HG03225.hp1 NA18612.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 a0001c0001t0001g0188 |
2 | 194 | 0.0103 | 28 | c.231 others(43): Show |
EPHX4 | ENSG00000172031.7 | transcript | ENST00000370383.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EPHX4_chr1_92024985_92068538 | 92030490 | G | GTGTGTGT others(21): Show |
intron_variant | MODIFIER | HG00140.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0201 a0001c0001t0002g0202 |
2 | 222 | 0.0090 | 28 | c.231 others(43): Show |
EPHX4 | ENSG00000172031.7 | transcript | ENST00000370383.5 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
EPHX4_chr1_92024985_92068538 | 92067488 | C | CTGACTGT others(21): Show |
downstream_gene_variant | MODIFIER | HG01069.hp1 HG01891.hp2 HG02055.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0024 others(18): Show |
22 | 234 | 0.0940 | 28 | c.*42 others(39): Show |
EPHX4 | ENSG00000172031.7 | transcript | ENST00000370383.5 | protein_coding | 3951 | chr1 | TogoVar | |||||||
EPN2_chr17_19232366_19341715 | 19276773 | G | GTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0003 | 1 | 40 | 0.0250 | 28 | c.-29 others(47): Show |
EPN2 | ENSG00000072134.16 | transcript | ENST00000314728.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
EPN2_chr17_19232366_19341715 | 19289724 | G | GTTTTGTT others(21): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 50 | 0.0200 | 28 | c.766 others(45): Show |
EPN2 | ENSG00000072134.16 | transcript | ENST00000314728.10 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
EPN2_chr17_19232366_19341715 | 19318549 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG01346.hp2 HG04199.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0036 a0001c0001t0010g0043 |
2 | 43 | 0.0465 | 28 | c.114 others(47): Show |
EPN2 | ENSG00000072134.16 | transcript | ENST00000314728.10 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
EPOR_chr19_11372207_11389314 | 11384667 | T | TTCTCTCT others(21): Show |
upstream_gene_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 219 | 0.0046 | 28 | c.-48 others(37): Show |
EPOR | ENSG00000187266.14 | transcript | ENST00000222139.11 | protein_coding | 354 | chr19 | TogoVar | |||||||
EPPIN_chr20_45535626_45552401 | 45548669 | T | TCTTTTCT others(21): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 HG02886.hp2 HG03041.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0013 | 4 | 412 | 0.0097 | 28 | c.-13 others(39): Show |
EPPIN | ENSG00000101448.14 | transcript | ENST00000354280.9 | protein_coding | 1269 | chr20 | TogoVar | |||||||
EPPK1_chr8_143852324_143883467 | 143855406 | G | GTATATCT others(21): Show |
downstream_gene_variant | MODIFIER | HG02074.hp2 NA18978.hp2 NA18994.hp1 others(2): Show |
a0001 | a0001c0001a0001c0022a0001c0172 | a0001c0001t0001a0001c0022t0001a0001c0172t0001 | a0001c0001t0001g0001 a0001c0022t0001g0013 a0001c0022t0001g0164 others(1): Show |
5 | 376 | 0.0133 | 28 | c.*25 others(39): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 1917 | chr8 | TogoVar | |||||||
EPPK1_chr8_143852324_143883467 | 143878395 | C | CCCGCACC others(21): Show |
intron_variant | MODIFIER | HG01361.hp1 HG02109.hp2 HG02300.hp1 others(11): Show |
a0001a0002a0013others(6): Show | a0001c0004a0001c0023a0002c0002others(8): Show | a0001c0004t0001a0001c0023t0001a0002c0002t0001others(8): Show | a0001c0004t0001g0022 a0001c0023t0001g0020 a0001c0023t0001g0123 others(10): Show |
14 | 165 | 0.0848 | 28 | c.-46 others(41): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 1/1 | chr8 | TogoVar | |||||||
EPRS1_chr1_219963600_220051505 | 219971795 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG02523.hp1 HG02572.hp1 HG02965.hp2 others(5): Show |
a0001 | a0001c0001a0001c0018 | a0001c0001t0002a0001c0018t0002 | a0001c0001t0002g0140 a0001c0001t0002g0267 a0001c0001t0002g0312 others(5): Show |
8 | 204 | 0.0392 | 28 | c.432 others(45): Show |
EPRS1 | ENSG00000136628.18 | transcript | ENST00000366923.8 | protein_coding | 30/31 | chr1 | TogoVar | |||||||
EPRS1_chr1_219963600_220051505 | 220044681 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0346 | 1 | 13 | 0.0769 | 28 | c.46+ others(43): Show |
EPRS1 | ENSG00000136628.18 | transcript | ENST00000366923.8 | protein_coding | 1/31 | chr1 | TogoVar | |||||||
EPSTI1_chr13_42881388_42997241 | 42926026 | T | TGGAAGGA others(21): Show |
intron_variant | MODIFIER | HG02818.hp1 HG03041.hp1 HG04204.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0015a0001c0001t0019others(2): Show | a0001c0001t0002g0185 a0001c0001t0002g0215 a0001c0001t0002g0235 others(5): Show |
8 | 330 | 0.0242 | 28 | c.657 others(43): Show |
EPSTI1 | ENSG00000133106.15 | transcript | ENST00000313624.12 | protein_coding | 7/10 | chr13 | TogoVar | |||||||
EPSTI1_chr13_42881388_42997241 | 42926041 | A | AAGGAAGG others(21): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00735.hp1 HG01123.hp2 others(44): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0008 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(19): Show | a0001c0001t0002g0222 a0001c0001t0002g0281 a0001c0001t0002g0322 others(43): Show |
47 | 166 | 0.2831 | 28 | c.657 others(43): Show |
EPSTI1 | ENSG00000133106.15 | transcript | ENST00000313624.12 | protein_coding | 7/10 | chr13 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 211460104 | G | GAATTGGG others(21): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03834.hp2 NA19043.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0016 a0001c0002t0001g0036 a0001c0002t0001g0048 |
3 | 56 | 0.0536 | 28 | c.248 others(49): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 20/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 211524655 | C | CCCGCCGG others(21): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0046 | 1 | 56 | 0.0179 | 28 | c.248 others(49): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 20/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 211524674 | C | CTCCGGCT others(21): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02145.hp1 HG02145.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(11): Show | a0001c0001t0002g0024 a0001c0001t0006g0039 a0001c0001t0007g0043 others(12): Show |
15 | 55 | 0.2727 | 28 | c.248 others(49): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 20/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 211599513 | C | CTGTGTGT others(21): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0043 | 1 | 8 | 0.1250 | 28 | c.230 others(49): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 19/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 211673517 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02145.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0029a0001c0002t0001 | a0001c0001t0029g0054 a0001c0002t0001g0037 |
2 | 15 | 0.1333 | 28 | c.162 others(45): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 13/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 211772830 | T | TACACATA others(21): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02809.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0023a0001c0001t0028 | a0001c0001t0003g0017 a0001c0001t0023g0012 a0001c0001t0028g0053 |
3 | 56 | 0.0536 | 28 | c.556 others(47): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 4/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 211940006 | T | TAGATAGA others(21): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0013 | 1 | 55 | 0.0182 | 28 | c.421 others(45): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 3/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212003148 | G | GGAAGGAA others(21): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0034 | 1 | 34 | 0.0294 | 28 | c.235 others(47): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 2/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212003148 | G | GGAAGGAA others(21): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0049 | 1 | 34 | 0.0294 | 28 | c.235 others(47): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 2/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212102088 | T | TTATATAT others(21): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 1 | 30 | 0.0333 | 28 | c.234 others(47): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 2/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212102090 | T | TTATATAT others(21): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02258.hp1 HG03239.hp1 others(2): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0001c0002t0013a0001c0002t0018others(1): Show | a0001c0002t0001g0036 a0001c0002t0001g0048 a0001c0002t0013g0027 others(2): Show |
5 | 11 | 0.4545 | 28 | c.234 others(47): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 2/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212206589 | C | CTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG03453.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0047 a0001c0001t0003g0050 |
2 | 22 | 0.0909 | 28 | c.83- others(45): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212345265 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01891.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0008 a0001c0001t0005g0015 a0001c0001t0005g0035 |
3 | 22 | 0.1364 | 28 | c.82+ others(47): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212346498 | A | AAAATGTT others(21): Show |
intron_variant | MODIFIER | HG02922.hp1 HG02965.hp1 HG03195.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0021 a0001c0001t0002g0025 a0001c0001t0004g0008 others(3): Show |
6 | 56 | 0.1071 | 28 | c.82+ others(47): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212513811 | C | CAATAAAT others(21): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0001 | 1 | 55 | 0.0182 | 28 | c.82+ others(45): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212540894 | T | TAAAAAAA others(21): Show |
upstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0051 | 1 | 21 | 0.0476 | 28 | c.-23 others(39): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 2093 | chr2 | TogoVar | |||||||
ERBIN_chr5_65921575_66087546 | 66018487 | T | TTATATAT others(21): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0177 | 1 | 226 | 0.0044 | 28 | c.534 others(45): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 7/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1093957 | C | CTATATAT others(21): Show |
intron_variant | MODIFIER | HG01081.hp1 HG04199.hp1 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0002a0002c0002t0065 | a0001c0003t0002g0004 a0002c0002t0065g0131 |
2 | 23 | 0.0870 | 28 | c.108 others(49): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1121725 | C | CTGTGTCT others(21): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0125 | 1 | 151 | 0.0066 | 28 | c.156 others(47): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1122009 | C | CTCTATCT others(21): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0037 | 1 | 138 | 0.0072 | 28 | c.156 others(47): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1122071 | A | ATCTGTGT others(21): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02895.hp2 |
a0001 | a0001c0001 | a0001c0001t0038a0001c0001t0068 | a0001c0001t0038g0150 a0001c0001t0068g0003 |
2 | 81 | 0.0247 | 28 | c.156 others(47): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1122277 | G | GTCTCTAT others(21): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0024 | 1 | 109 | 0.0092 | 28 | c.156 others(47): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1122373 | G | GTCTCTAT others(21): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG01081.hp2 others(8): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(8): Show | a0001c0001t0001g0010 a0001c0001t0003g0009 a0001c0001t0007g0084 others(8): Show |
11 | 108 | 0.1019 | 28 | c.156 others(47): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1122375 | C | CTCTATCT others(21): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0002 | a0002c0002t0036 | a0002c0002t0036g0082 | 1 | 136 | 0.0074 | 28 | c.156 others(47): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1122439 | G | GTCTCTAT others(21): Show |
intron_variant | MODIFIER | NA18612.hp2 NA18949.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0025 | a0001c0001t0003g0034 a0001c0001t0025g0061 |
2 | 111 | 0.0180 | 28 | c.156 others(47): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1196838 | C | CTCTCTCT others(21): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0047 | a0001c0001t0007g0066 a0001c0001t0047g0121 |
2 | 114 | 0.0175 | 28 | c.235 others(47): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1311365 | G | GTTAGAGG others(21): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02257.hp1 HG04199.hp1 others(2): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0002a0001c0003t0006a0001c0003t0007others(1): Show | a0001c0003t0002g0004 a0001c0003t0002g0021 a0001c0003t0006g0114 others(2): Show |
5 | 160 | 0.0313 | 28 | c.278 others(49): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1438950 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02818.hp2 |
a0002 | a0002c0002a0002c0006 | a0002c0002t0065a0002c0006t0041 | a0002c0002t0065g0131 a0002c0006t0041g0081 |
2 | 155 | 0.0129 | 28 | c.302 others(47): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1463697 | C | CTGTGTGT others(21): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02922.hp1 HG03130.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0008a0002c0002t0046a0002c0002t0066 | a0002c0002t0008g0135 a0002c0002t0008g0136 a0002c0002t0046g0069 others(1): Show |
4 | 66 | 0.0606 | 28 | c.321 others(49): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1493544 | A | AATATATA others(21): Show |
3_prime_UTR_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0067 | a0001c0001t0067g0132 | 1 | 130 | 0.0077 | 28 | c.*33 others(39): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 19/19 | 3316 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC2_chr3_55503311_56473467 | 55583497 | T | TTCCCTCC others(21): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0012 | 1 | 51 | 0.0196 | 28 | c.*40 others(47): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 17/17 | chr3 | TogoVar |