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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ERC2_chr3_55503311_56473467 | 55875722 | ACACTCT | A | intron_variant | MODIFIER | HG02723.hp2 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0072a0001c0001t0005g0063 | 2 | 74 | 0.0270 | -6 | c.256 others(27): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 14/17 | chr3 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 55883539 | TACACAC | T | intron_variant | MODIFIER | HG01109.hp1 HG01167.hp2 HG01169.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0002g0037a0001c0001t0004g0022a0001c0001t0006g0026others(4): Show | 7 | 74 | 0.0946 | -6 | c.256 others(25): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 14/17 | chr3 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 55883889 | AAACAAC | A | intron_variant | MODIFIER | HG02258.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0061a0001c0001t0002g0021 | 2 | 74 | 0.0270 | -6 | c.256 others(25): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 14/17 | chr3 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 55952136 | AACACAC | A | intron_variant | MODIFIER | HG01109.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0029a0001c0001t0004g0022 | 2 | 74 | 0.0270 | -6 | c.226 others(25): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 12/17 | chr3 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 55955248 | TTGTGTG | T | intron_variant | MODIFIER | HG02258.hp2 HG03834.hp2 HG06807.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0009 | a0001c0001t0002g0021a0001c0001t0002g0040a0001c0001t0005g0071others(1): Show | 4 | 74 | 0.0541 | -6 | c.226 others(25): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 12/17 | chr3 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 55969392 | TACACAC | T | intron_variant | MODIFIER | HG01069.hp1 HG01069.hp2 HG01071.hp1 others(14): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0048others(14): Show | 17 | 74 | 0.2297 | -6 | c.226 others(27): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 12/17 | chr3 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 56032945 | AAGAAAG | A | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG02486.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0013 | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0062others(1): Show | 4 | 74 | 0.0541 | -6 | c.164 others(27): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 7/17 | chr3 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 56032971 | AAGAAAG | A | intron_variant | MODIFIER | HG01167.hp1 HG02965.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0004a0001c0002t0001g0003 | 2 | 74 | 0.0270 | -6 | c.164 others(27): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 7/17 | chr3 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 56051826 | AACACAC | A | intron_variant | MODIFIER | HG00741.hp2 HG01069.hp1 HG01071.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0009a0001c0001t0001g0010others(10): Show | 13 | 74 | 0.1757 | -6 | c.164 others(27): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 7/17 | chr3 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 56087179 | TTGTGTG | T | intron_variant | MODIFIER | HG00741.hp1 HG01071.hp2 HG01346.hp1 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0007a0001c0001t0001g0059a0001c0001t0001g0062others(16): Show | 19 | 74 | 0.2568 | -6 | c.147 others(25): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 6/17 | chr3 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 56112432 | GACACAC | G | intron_variant | MODIFIER | HG00741.hp1 HG00741.hp2 HG01069.hp2 others(29): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0013a0001c0001t0001g0033a0001c0001t0001g0035others(29): Show | 32 | 74 | 0.4324 | -6 | c.147 others(27): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 6/17 | chr3 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 56134924 | TTTTTTG | T | intron_variant | MODIFIER | HG01071.hp2 HG02630.hp2 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007 | a0001c0001t0002g0064a0001c0001t0003g0069a0001c0001t0007g0002 | 3 | 74 | 0.0405 | -6 | c.147 others(25): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 6/17 | chr3 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 56206196 | CACACAT | C | intron_variant | MODIFIER | HG00741.hp2 HG01069.hp2 HG01109.hp1 others(17): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0013a0001c0001t0001g0061a0001c0001t0002g0005others(17): Show | 20 | 74 | 0.2703 | -6 | c.107 others(27): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 3/17 | chr3 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 56284988 | GTCTCTC | G | intron_variant | MODIFIER | HG03195.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035a0001c0001t0001g0052 | 2 | 74 | 0.0270 | -6 | c.107 others(27): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 3/17 | chr3 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 56285009 | TCTCACA | T | intron_variant | MODIFIER | HG00741.hp2 HG01069.hp2 HG02040.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0061a0001c0001t0002g0005a0001c0001t0002g0032others(4): Show | 7 | 74 | 0.0946 | -6 | c.107 others(27): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 3/17 | chr3 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 56305512 | CCACACA | C | intron_variant | MODIFIER | HG01071.hp2 HG03195.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0012 | a0001c0001t0001g0052a0001c0001t0003g0069a0001c0001t0012g0023 | 3 | 74 | 0.0405 | -6 | c.658 others(23): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 2/17 | chr3 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 56311231 | TTCTCTC | T | intron_variant | MODIFIER | HG01167.hp1 HG03130.hp1 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010 | a0001c0001t0001g0004a0001c0001t0001g0052a0001c0001t0002g0054others(1): Show | 4 | 74 | 0.0541 | -6 | c.658 others(25): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 2/17 | chr3 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 56311819 | ATGTGTG | A | intron_variant | MODIFIER | HG01934.hp2 HG02647.hp1 HG02647.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0013a0001c0001t0002g0040a0001c0001t0005g0063others(5): Show | 8 | 74 | 0.1081 | -6 | c.658 others(25): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 2/17 | chr3 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 56378581 | AAAAAAC | A | intron_variant | MODIFIER | HG01099.hp2 HG02486.hp2 HG03098.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(1): Show | a0001c0002t0001g0017a0001c0002t0001g0067a0001c0002t0002g0016others(2): Show | 5 | 74 | 0.0676 | -6 | c.657 others(25): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 2/17 | chr3 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 56459527 | CCACACA | C | intron_variant | MODIFIER | HG00741.hp1 HG01069.hp2 HG01109.hp2 others(22): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0038a0001c0001t0001g0059a0001c0001t0001g0061others(22): Show | 25 | 74 | 0.3378 | -6 | c.-14 others(25): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 1/17 | chr3 | TogoVar | ||||||
ERCC1_chr19_45402334_45428917 | 45409877 | GTTATTA | G | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02572.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0036a0001c0001t0006g0189a0001c0001t0006g0206others(3): Show | 7 | 420 | 0.0167 | -6 | c.844 others(21): Show |
ERCC1 | ENSG00000012061.17 | transcript | ENST00000300853.8 | protein_coding | 9/9 | chr19 | TogoVar | ||||||
ERCC1_chr19_45402334_45428917 | 45410565 | TTGTGTG | T | intron_variant | MODIFIER | HG03195.hp2 HG03209.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0017 | 3 | 420 | 0.0071 | -6 | c.844 others(21): Show |
ERCC1 | ENSG00000012061.17 | transcript | ENST00000300853.8 | protein_coding | 9/9 | chr19 | TogoVar | ||||||
ERCC1_chr19_45402334_45428917 | 45425082 | ATTTTTT | A | upstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02572.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0015a0001c0001t0025 | a0001c0001t0006g0036a0001c0001t0006g0206a0001c0001t0006g0207others(4): Show | 10 | 420 | 0.0238 | -6 | c.-13 others(17): Show |
ERCC1 | ENSG00000012061.17 | transcript | ENST00000300853.8 | protein_coding | 1166 | chr19 | TogoVar | ||||||
ERCC2_chr19_45344837_45375573 | 45367354 | AATATAT | A | intron_variant | MODIFIER | HG00544.hp2 HG02109.hp1 HG02809.hp2 others(4): Show |
a0001 | a0001c0001a0001c0016 | a0001c0001t0001a0001c0001t0002a0001c0016t0001 | a0001c0001t0001g0017a0001c0001t0001g0177a0001c0001t0001g0178others(2): Show | 7 | 412 | 0.0170 | -6 | c.360 others(23): Show |
ERCC2 | ENSG00000104884.17 | transcript | ENST00000391945.10 | protein_coding | 5/22 | chr19 | TogoVar | ||||||
ERCC2_chr19_45344837_45375573 | 45367364 | TATATAC | T | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00558.hp2 others(153): Show |
a0001a0003a0007others(4): Show | a0001c0001a0001c0009a0001c0010others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(23): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(109): Show | 156 | 412 | 0.3786 | -6 | c.360 others(23): Show |
ERCC2 | ENSG00000104884.17 | transcript | ENST00000391945.10 | protein_coding | 5/22 | chr19 | TogoVar | ||||||
ERCC2_chr19_45344837_45375573 | 45367366 | TATACAC | T | intron_variant | MODIFIER | HG02109.hp2 HG02970.hp2 HG03710.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0003a0002c0003t0037 | a0001c0001t0001g0100a0002c0003t0003g0092a0002c0003t0003g0093others(2): Show | 5 | 412 | 0.0121 | -6 | c.360 others(23): Show |
ERCC2 | ENSG00000104884.17 | transcript | ENST00000391945.10 | protein_coding | 5/22 | chr19 | TogoVar | ||||||
ERCC2_chr19_45344837_45375573 | 45367368 | TACACAC | T | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 NA18950.hp1 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0010a0001c0002t0001g0207a0001c0002t0002g0204others(7): Show | 12 | 412 | 0.0291 | -6 | c.360 others(23): Show |
ERCC2 | ENSG00000104884.17 | transcript | ENST00000391945.10 | protein_coding | 5/22 | chr19 | TogoVar | ||||||
ERCC3_chr2_127252290_127299144 | 127273749 | CAAAAAA | C | intron_variant | MODIFIER | HG02015.hp1 HG03688.hp1 NA18980.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0009 | a0001c0001t0001a0002c0009t0001 | a0001c0001t0001g0041a0001c0001t0001g0192a0001c0001t0001g0230others(3): Show | 7 | 350 | 0.0200 | -6 | c.173 others(23): Show |
ERCC3 | ENSG00000163161.14 | transcript | ENST00000285398.7 | protein_coding | 10/14 | chr2 | TogoVar | ||||||
ERCC3_chr2_127252290_127299144 | 127295967 | TAAAAAA | T | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00639.hp1 others(70): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0005a0001c0008t0001 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(58): Show | 73 | 350 | 0.2086 | -6 | c.-18 others(17): Show |
ERCC3 | ENSG00000163161.14 | transcript | ENST00000285398.7 | protein_coding | 1824 | chr2 | TogoVar | ||||||
ERCC5_chr13_102841032_102880995 | 102864126 | CCACACA | C | intron_variant | MODIFIER | HG01069.hp2 HG01243.hp1 HG01884.hp1 others(28): Show |
a0002a0003a0004others(3): Show | a0002c0002a0003c0006a0003c0022others(5): Show | a0002c0002t0005a0003c0006t0003a0003c0006t0006others(8): Show | a0002c0002t0005g0236a0003c0006t0003g0016a0003c0006t0003g0034others(20): Show | 31 | 394 | 0.0787 | -6 | c.195 others(25): Show |
ERCC5 | ENSG00000134899.24 | transcript | ENST00000652225.2 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ERCC6L2_chr9_95870691_96023447 | 95899627 | TGTGTGC | T | intron_variant | MODIFIER | HG00423.hp2 HG00673.hp1 HG00741.hp1 others(35): Show |
a0001a0004 | a0001c0005a0004c0004 | a0001c0005t0009a0001c0005t0072a0001c0005t0073others(9): Show | a0001c0005t0009g0221a0001c0005t0009g0222a0001c0005t0009g0225others(35): Show | 38 | 392 | 0.0969 | -6 | c.594 others(23): Show |
ERCC6L2 | ENSG00000182150.19 | transcript | ENST00000653738.2 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ERCC6L2_chr9_95870691_96023447 | 95963147 | CTGTGTG | C | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00673.hp2 others(116): Show |
a0001a0002a0005others(9): Show | a0001c0001a0001c0005a0002c0002others(11): Show | a0001c0001t0015a0001c0001t0022a0001c0001t0027others(35): Show | a0001c0001t0015g0006a0001c0001t0015g0138a0001c0001t0015g0140others(111): Show | 119 | 392 | 0.3036 | -6 | c.194 others(25): Show |
ERCC6L2 | ENSG00000182150.19 | transcript | ENST00000653738.2 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ERCC6_chr10_49449470_49544121 | 49526111 | ATATTTT | A | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG02723.hp1 |
a0002a0005 | a0002c0002a0005c0008 | a0002c0002t0017a0005c0008t0001 | a0002c0002t0017g0327a0005c0008t0001g0014 | 3 | 388 | 0.0077 | -6 | c.653 others(23): Show |
ERCC6 | ENSG00000225830.16 | transcript | ENST00000355832.10 | protein_coding | 4/20 | chr10 | TogoVar | ||||||
ERCC6_chr10_49449470_49544121 | 49537487 | CTATATA | C | intron_variant | MODIFIER | HG02896.hp2 HG03209.hp2 NA20129.hp1 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0011 | a0001c0004t0011g0024a0001c0004t0011g0116a0001c0004t0011g0237 | 4 | 388 | 0.0103 | -6 | c.-15 others(23): Show |
ERCC6 | ENSG00000225830.16 | transcript | ENST00000355832.10 | protein_coding | 1/20 | chr10 | TogoVar | ||||||
ERCC6_chr10_49510198_49544121 | 49526111 | ATATTTT | A | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG02723.hp1 |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0001a0006c0010t0001 | a0001c0001t0001g0044a0006c0010t0001g0204 | 3 | 402 | 0.0075 | -6 | c.653 others(23): Show |
ERCC6 | ENSG00000225830.16 | transcript | ENST00000447839.7 | protein_coding | 4/5 | chr10 | TogoVar | ||||||
ERCC6_chr10_49510198_49544121 | 49537487 | CTATATA | C | intron_variant | MODIFIER | HG02896.hp1 HG03209.hp1 NA20129.hp2 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0024a0001c0004t0001g0099 | 4 | 402 | 0.0100 | -6 | c.-15 others(23): Show |
ERCC6 | ENSG00000225830.16 | transcript | ENST00000447839.7 | protein_coding | 1/5 | chr10 | TogoVar | ||||||
ERCC8_chr5_60861454_60950070 | 60886703 | AAAAAAT | A | intron_variant | MODIFIER | HG01109.hp2 HG01192.hp2 HG01257.hp2 others(13): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0001t0031a0001c0001t0043others(4): Show | a0001c0001t0004g0006a0001c0001t0004g0241a0001c0001t0004g0243others(12): Show | 16 | 302 | 0.0530 | -6 | c.112 others(23): Show |
ERCC8 | ENSG00000049167.16 | transcript | ENST00000676185.1 | protein_coding | 11/11 | chr5 | TogoVar | ||||||
ERCC8_chr5_60861454_60950070 | 60904621 | AGTGTGT | A | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00558.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0019others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0109a0001c0001t0001g0142others(10): Show | 16 | 302 | 0.0530 | -6 | c.481 others(21): Show |
ERCC8 | ENSG00000049167.16 | transcript | ENST00000676185.1 | protein_coding | 5/11 | chr5 | TogoVar | ||||||
ERCC8_chr5_60861454_60950070 | 60904630 | GTGTGTA | G | intron_variant | MODIFIER | HG02683.hp1 NA19064.hp2 NA19065.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0215a0001c0001t0002g0216a0001c0001t0002g0234others(1): Show | 4 | 302 | 0.0133 | -6 | c.481 others(21): Show |
ERCC8 | ENSG00000049167.16 | transcript | ENST00000676185.1 | protein_coding | 5/11 | chr5 | TogoVar | ||||||
ERCC8_chr5_60861454_60950070 | 60904632 | GTGTATA | G | intron_variant | MODIFIER | HG00735.hp2 HG01074.hp1 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0199a0001c0001t0002g0204a0001c0001t0009g0188 | 3 | 302 | 0.0099 | -6 | c.481 others(21): Show |
ERCC8 | ENSG00000049167.16 | transcript | ENST00000676185.1 | protein_coding | 5/11 | chr5 | TogoVar | ||||||
ERCC8_chr5_60861454_60950070 | 60904634 | GTATATA | G | intron_variant | MODIFIER | HG00642.hp1 HG01255.hp2 HG02280.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0045a0001c0001t0046others(1): Show | a0001c0001t0005g0248a0001c0001t0045g0252a0001c0001t0046g0277others(2): Show | 5 | 302 | 0.0166 | -6 | c.481 others(21): Show |
ERCC8 | ENSG00000049167.16 | transcript | ENST00000676185.1 | protein_coding | 5/11 | chr5 | TogoVar | ||||||
ERCC8_chr5_60861454_60950070 | 60909243 | GAAAAAA | G | intron_variant | MODIFIER | HG00621.hp1 HG00639.hp2 HG00733.hp1 others(53): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(19): Show | a0001c0001t0001g0109a0001c0001t0001g0120a0001c0001t0001g0125others(52): Show | 56 | 302 | 0.1854 | -6 | c.400 others(23): Show |
ERCC8 | ENSG00000049167.16 | transcript | ENST00000676185.1 | protein_coding | 4/11 | chr5 | TogoVar | ||||||
ERCC8_chr5_60861454_60950070 | 60938042 | TACATAC | T | intron_variant | MODIFIER | HG00738.hp2 HG01099.hp2 HG01928.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0041 | a0001c0001t0002g0036a0001c0001t0002g0193a0001c0001t0002g0198others(11): Show | 14 | 302 | 0.0464 | -6 | c.77+ others(21): Show |
ERCC8 | ENSG00000049167.16 | transcript | ENST00000676185.1 | protein_coding | 1/11 | chr5 | TogoVar | ||||||
ERCC8_chr5_60861454_60950070 | 60938084 | TATTTTA | T | intron_variant | MODIFIER | NA19065.hp1 NA19086.hp2 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0215a0001c0001t0002g0216a0001c0001t0002g0217 | 3 | 302 | 0.0099 | -6 | c.77+ others(21): Show |
ERCC8 | ENSG00000049167.16 | transcript | ENST00000676185.1 | protein_coding | 1/11 | chr5 | TogoVar | ||||||
ERCC8_chr5_60861454_60950070 | 60938085 | ATTTTAT | A | intron_variant | MODIFIER | HG00621.hp1 HG00639.hp1 HG01167.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(7): Show | a0001c0001t0001g0109a0001c0001t0001g0114a0001c0001t0001g0115others(18): Show | 21 | 302 | 0.0695 | -6 | c.77+ others(21): Show |
ERCC8 | ENSG00000049167.16 | transcript | ENST00000676185.1 | protein_coding | 1/11 | chr5 | TogoVar | ||||||
EREG_chr4_74360145_74393749 | 74362189 | TGTGCGC | T | upstream_gene_variant | MODIFIER | HG00544.hp2 HG00741.hp1 HG01081.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0029a0001c0001t0001g0097others(19): Show | 22 | 358 | 0.0615 | -6 | c.-31 others(17): Show |
EREG | ENSG00000124882.4 | transcript | ENST00000244869.3 | protein_coding | 2955 | chr4 | TogoVar | ||||||
ERFL_chr19_41902704_41933449 | 41914562 | CATCTCT | C | intron_variant | MODIFIER | HG02145.hp2 HG02572.hp2 HG02698.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0002 | a0001c0001t0003g0009a0001c0001t0003g0230a0001c0001t0003g0265others(5): Show | 10 | 330 | 0.0303 | -6 | c.-13 others(23): Show |
ERFL | ENSG00000268041.3 | transcript | ENST00000597630.3 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
ERFL_chr19_41902704_41933449 | 41914568 | TGTCTCC | T | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00438.hp2 others(124): Show |
a0000a0001a0002others(2): Show | a0000c0003a0000c0005a0001c0001others(5): Show | a0000c0003t0001a0000c0003t0003a0000c0005t0002others(11): Show | a0000c0003t0001g0110a0000c0003t0001g0167a0000c0003t0003g0238others(102): Show | 127 | 330 | 0.3849 | -6 | c.-13 others(23): Show |
ERFL | ENSG00000268041.3 | transcript | ENST00000597630.3 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
ERFL_chr19_41902704_41933449 | 41914595 | CATCTCT | C | intron_variant | MODIFIER | HG01258.hp1 HG01516.hp1 HG01517.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0049others(2): Show | 7 | 330 | 0.0212 | -6 | c.-13 others(23): Show |
ERFL | ENSG00000268041.3 | transcript | ENST00000597630.3 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
ERFL_chr19_41902704_41933449 | 41914622 | CATCTCT | C | intron_variant | MODIFIER | HG00558.hp2 HG01258.hp1 HG01516.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(1): Show | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0046others(8): Show | 13 | 330 | 0.0394 | -6 | c.-13 others(23): Show |
ERFL | ENSG00000268041.3 | transcript | ENST00000597630.3 | protein_coding | 1/5 | chr19 | TogoVar |