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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EIPR1_chr2_3183970_3382818 | 3285884 | AACTGTCT others(31): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG01192.hp1 HG01256.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0079a0001c0001t0001g0080others(4): Show | 7 | 250 | 0.0280 | -38 | c.260 others(57): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | ||||||
EIPR1_chr2_3183970_3382818 | 3331423 | GAGCAGAG others(31): Show |
G | intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 250 | 0.0040 | -38 | c.259 others(55): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | ||||||
EIPR1_chr2_3183970_3382818 | 3331613 | GAGCAGAG others(31): Show |
G | intron_variant | MODIFIER | HG01123.hp2 HG01884.hp1 HG01884.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0014a0001c0001t0001g0229a0001c0001t0001g0231others(13): Show | 16 | 250 | 0.0640 | -38 | c.259 others(55): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | ||||||
EIPR1_chr2_3183970_3382818 | 3331727 | CAGCAGAG others(31): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02896.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0009a0001c0001t0004g0008 | 2 | 250 | 0.0080 | -38 | c.259 others(55): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | ||||||
EIPR1_chr2_3183970_3382818 | 3331879 | GAGCAGAG others(31): Show |
G | intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 250 | 0.0040 | -38 | c.259 others(55): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | ||||||
ELAVL2_chr9_23685104_23831240 | 23779979 | TAAAAAAA others(31): Show |
T | intron_variant | MODIFIER | HG02965.hp1 | a0003 | a0003c0007 | a0003c0007t0004 | a0003c0007t0004g0300 | 1 | 352 | 0.0028 | -38 | c.-15 others(57): Show |
ELAVL2 | ENSG00000107105.15 | transcript | ENST00000397312.7 | protein_coding | 1/6 | chr9 | TogoVar | ||||||
ELK4_chr1_205602943_205637011 | 205623968 | TAAGTGCT others(31): Show |
T | intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0052 | 1 | 424 | 0.0024 | -38 | c.-9- others(50): Show |
ELK4 | ENSG00000158711.14 | transcript | ENST00000357992.9 | protein_coding | 1/4 | chr1 | TogoVar | ||||||
ELL2_chr5_95880098_95966851 | 95927401 | ACACACAC others(31): Show |
A | intron_variant | MODIFIER | HG02922.hp2 HG03516.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0119a0002c0002t0001g0133 | 2 | 314 | 0.0064 | -38 | c.196 others(55): Show |
ELL2 | ENSG00000118985.16 | transcript | ENST00000237853.9 | protein_coding | 2/11 | chr5 | TogoVar | ||||||
ELL2_chr5_95880098_95966851 | 95950904 | GTATATAT others(31): Show |
G | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0224 | 1 | 314 | 0.0032 | -38 | c.148 others(55): Show |
ELL2 | ENSG00000118985.16 | transcript | ENST00000237853.9 | protein_coding | 1/11 | chr5 | TogoVar | ||||||
ELOVL7_chr5_60746791_60849269 | 60802087 | TATATATA others(31): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01167.hp2 HG01175.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0023 | a0001c0001t0001g0096a0001c0001t0001g0097a0001c0001t0001g0122others(7): Show | 10 | 258 | 0.0388 | -38 | c.-85 others(55): Show |
ELOVL7 | ENSG00000164181.14 | transcript | ENST00000508821.6 | protein_coding | 1/8 | chr5 | TogoVar | ||||||
ELP3_chr8_28088139_28196153 | 28119572 | TTATATAT others(31): Show |
T | intron_variant | MODIFIER | HG02615.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0369a0001c0001t0001g0370 | 2 | 398 | 0.0050 | -38 | c.617 others(55): Show |
ELP3 | ENSG00000134014.18 | transcript | ENST00000256398.13 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ENOSF1_chr18_665318_717630 | 667428 | GGAGATGG others(31): Show |
G | downstream_gene_variant | MODIFIER | NA19057.hp1 NA19066.hp1 |
a0003 | a0003c0007 | a0003c0007t0003a0003c0007t0015 | a0003c0007t0003g0389a0003c0007t0015g0360 | 2 | 418 | 0.0048 | -38 | c.*68 others(49): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 2889 | chr18 | TogoVar | ||||||
ENOSF1_chr18_665318_717630 | 667440 | GGTGATGG others(31): Show |
G | downstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0153 | 1 | 418 | 0.0024 | -38 | c.*68 others(49): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 2877 | chr18 | TogoVar | ||||||
ENPP1_chr6_131803020_131900155 | 131811356 | ATATATCT others(31): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02965.hp1 |
a0002 | a0002c0002 | a0002c0002t0066a0002c0002t0082 | a0002c0002t0066g0215a0002c0002t0082g0214 | 2 | 292 | 0.0069 | -38 | c.240 others(55): Show |
ENPP1 | ENSG00000197594.14 | transcript | ENST00000647893.1 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ENTREP2_chr15_29115252_29575979 | 29219610 | CATAAATA others(31): Show |
C | intron_variant | MODIFIER | HG02280.hp1 NA19240.hp2 |
a0001a0002 | a0001c0011a0002c0004 | a0001c0011t0010a0002c0004t0037 | a0001c0011t0010g0053a0002c0004t0037g0066 | 2 | 125 | 0.0160 | -38 | c.388 others(57): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 3/10 | chr15 | TogoVar | ||||||
EP300_chr22_41087592_41185077 | 41167572 | GTGTGTGT others(31): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00558.hp1 others(53): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0016others(1): Show | a0001c0001t0011a0001c0002t0001a0001c0002t0003others(31): Show | a0001c0001t0011g0252a0001c0002t0001g0103a0001c0002t0003g0115others(53): Show | 56 | 300 | 0.1867 | -38 | c.387 others(55): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
EP300_chr22_41087592_41185077 | 41167576 | GTGTGTGT others(31): Show |
G | intron_variant | MODIFIER | HG02717.hp1 HG03098.hp2 |
a0001 | a0001c0005 | a0001c0005t0016 | a0001c0005t0016g0109a0001c0005t0016g0110 | 2 | 300 | 0.0067 | -38 | c.387 others(55): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
EP300_chr22_41087592_41185077 | 41167578 | GTGTGTGT others(31): Show |
G | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0002 | a0001c0002t0027 | a0001c0002t0027g0116 | 1 | 300 | 0.0033 | -38 | c.387 others(55): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
EP300_chr22_41087592_41185077 | 41167584 | GTATATAT others(31): Show |
G | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0279 | 1 | 300 | 0.0033 | -38 | c.387 others(55): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
EPHA2_chr1_16119337_16161069 | 16136654 | AGAAGAAG others(31): Show |
A | intron_variant | MODIFIER | HG01256.hp2 HG01934.hp1 HG01952.hp2 others(4): Show |
a0001 | a0001c0003a0001c0004a0001c0015 | a0001c0003t0001a0001c0004t0001a0001c0015t0001 | a0001c0003t0001g0208a0001c0003t0001g0209a0001c0003t0001g0224others(4): Show | 7 | 312 | 0.0224 | -38 | c.131 others(55): Show |
EPHA2 | ENSG00000142627.13 | transcript | ENST00000358432.8 | protein_coding | 5/16 | chr1 | TogoVar | ||||||
EPHA2_chr1_16119337_16161069 | 16136692 | GGAAGAAG others(31): Show |
G | intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 312 | 0.0032 | -38 | c.131 others(55): Show |
EPHA2 | ENSG00000142627.13 | transcript | ENST00000358432.8 | protein_coding | 5/16 | chr1 | TogoVar | ||||||
EPHA5_chr4_65314567_65675489 | 65348678 | ATATATAT others(31): Show |
A | intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0207 | 1 | 234 | 0.0043 | -38 | c.244 others(55): Show |
EPHA5 | ENSG00000145242.14 | transcript | ENST00000613740.5 | protein_coding | 13/16 | chr4 | TogoVar | ||||||
EPHA6_chr3_96809594_97766532 | 97327945 | GTATATGT others(31): Show |
G | intron_variant | MODIFIER | HG01934.hp2 NA20129.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0006a0001c0004t0003 | a0001c0001t0006g0023a0001c0004t0003g0035 | 2 | 82 | 0.0244 | -38 | c.160 others(59): Show |
EPHA6 | ENSG00000080224.18 | transcript | ENST00000389672.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EPHA6_chr3_96809594_97766532 | 97327993 | ATGTGTAT others(31): Show |
A | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0003 | a0001c0003t0011 | a0001c0003t0011g0011 | 1 | 82 | 0.0122 | -38 | c.160 others(59): Show |
EPHA6 | ENSG00000080224.18 | transcript | ENST00000389672.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EPHB1_chr3_134790260_135265467 | 135183016 | TTTTCTTT others(31): Show |
T | intron_variant | MODIFIER | HG02486.hp2 HG02717.hp2 HG02809.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0012a0001c0004t0002others(1): Show | a0001c0001t0002g0002a0001c0001t0002g0079a0001c0001t0002g0120others(4): Show | 7 | 134 | 0.0522 | -38 | c.188 others(57): Show |
EPHB1 | ENSG00000154928.19 | transcript | ENST00000398015.8 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EPS8L1_chr19_55070869_55092923 | 55078513 | TGGGGGGC others(31): Show |
T | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 340 | 0.0029 | -38 | c.58+ others(51): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
EPS8L2_chr11_701231_732727 | 722949 | AGCCCCGA others(31): Show |
A | intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0141 | 1 | 406 | 0.0025 | -38 | c.134 others(55): Show |
EPS8L2 | ENSG00000177106.17 | transcript | ENST00000318562.13 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
EQTN_chr9_27279654_27302150 | 27301183 | AATGTAGA others(31): Show |
A | upstream_gene_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 446 | 0.0022 | -38 | c.-41 others(49): Show |
EQTN | ENSG00000120160.11 | transcript | ENST00000380032.8 | protein_coding | 4034 | chr9 | TogoVar | ||||||
ERAP1_chr5_96769484_96812945 | 96808183 | GATCCGTG others(31): Show |
G | upstream_gene_variant | MODIFIER | HG03831.hp1 | a0009 | a0009c0009 | a0009c0009t0006 | a0009c0009t0006g0013 | 1 | 416 | 0.0024 | -38 | c.-37 others(47): Show |
ERAP1 | ENSG00000164307.13 | transcript | ENST00000443439.7 | protein_coding | 239 | chr5 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211622986 | AAAAAATA others(31): Show |
A | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0019 | 1 | 56 | 0.0179 | -38 | c.220 others(55): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 18/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211622990 | AATATATA others(31): Show |
A | intron_variant | MODIFIER | HG02145.hp1 NA19030.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0011a0001c0002t0001 | a0001c0001t0011g0042a0001c0002t0001g0020 | 2 | 56 | 0.0357 | -38 | c.220 others(55): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 18/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 212015041 | AATATATA others(31): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG03516.hp2 HG03579.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0017a0001c0001t0029a0001c0004t0021 | a0001c0001t0017g0029a0001c0001t0029g0054a0001c0004t0021g0009 | 3 | 56 | 0.0536 | -38 | c.235 others(57): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 2/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 212446577 | CCATATAT others(31): Show |
C | intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0015 | 1 | 56 | 0.0179 | -38 | c.82+ others(55): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 212446578 | CATATATA others(31): Show |
C | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0044 | 1 | 56 | 0.0179 | -38 | c.82+ others(55): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | ||||||
ERBIN_chr5_65921575_66087546 | 66065591 | CTGTGTGT others(31): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02886.hp1 others(3): Show |
a0001 | a0001c0007 | a0001c0007t0010 | a0001c0007t0010g0161a0001c0007t0010g0162a0001c0007t0010g0163others(3): Show | 6 | 306 | 0.0196 | -38 | c.363 others(57): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 21/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1090896 | ATTATTAT others(31): Show |
A | intron_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0002 | a0002c0002t0038 | a0002c0002t0038g0082 | 1 | 162 | 0.0062 | -38 | c.108 others(57): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1121901 | ATCTCTAT others(31): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG02970.hp2 HG03654.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0013a0001c0001t0124a0002c0002t0064others(1): Show | a0001c0001t0013g0015a0001c0001t0124g0050a0002c0002t0064g0069others(1): Show | 4 | 162 | 0.0247 | -38 | c.156 others(57): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1180275 | GTGTGTGT others(31): Show |
G | intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0068 | a0001c0001t0068g0083 | 1 | 162 | 0.0062 | -38 | c.173 others(55): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1196905 | TACACACA others(31): Show |
T | intron_variant | MODIFIER | HG02970.hp2 NA19043.hp2 |
a0002 | a0002c0002 | a0002c0002t0064a0002c0002t0135 | a0002c0002t0064g0069a0002c0002t0135g0093 | 2 | 162 | 0.0124 | -38 | c.235 others(57): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1418565 | TTTTCTTT others(31): Show |
T | intron_variant | MODIFIER | HG01109.hp1 | a0002 | a0002c0002 | a0002c0002t0080 | a0002c0002t0080g0127 | 1 | 162 | 0.0062 | -38 | c.302 others(59): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1440600 | TTGTGTGT others(31): Show |
T | intron_variant | MODIFIER | HG03130.hp2 HG06807.hp2 |
a0002 | a0002c0002 | a0002c0002t0098a0002c0002t0101 | a0002c0002t0098g0045a0002c0002t0101g0056 | 2 | 162 | 0.0124 | -38 | c.302 others(57): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC2_chr3_55503311_56473467 | 55952166 | CACACACA others(31): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0033a0001c0001t0006g0026a0001c0001t0006g0027 | 3 | 74 | 0.0405 | -38 | c.226 others(57): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 12/17 | chr3 | TogoVar | ||||||
ERCC1_chr19_45402334_45428917 | 45419894 | ACCCAGGA others(31): Show |
A | intron_variant | MODIFIER | HG00733.hp1 HG01891.hp1 HG03579.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0024 | a0001c0001t0003g0165a0001c0001t0006g0166a0001c0001t0006g0189others(1): Show | 4 | 420 | 0.0095 | -38 | c.425 others(53): Show |
ERCC1 | ENSG00000012061.17 | transcript | ENST00000300853.8 | protein_coding | 4/9 | chr19 | TogoVar | ||||||
ERCC6_chr10_49449470_49544121 | 49526107 | TTATATAT others(31): Show |
T | intron_variant | MODIFIER | HG03471.hp1 | a0025 | a0025c0032 | a0025c0032t0016 | a0025c0032t0016g0155 | 1 | 388 | 0.0026 | -38 | c.653 others(55): Show |
ERCC6 | ENSG00000225830.16 | transcript | ENST00000355832.10 | protein_coding | 4/20 | chr10 | TogoVar | ||||||
ERCC6_chr10_49510198_49544121 | 49526107 | TTATATAT others(31): Show |
T | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 402 | 0.0025 | -38 | c.653 others(55): Show |
ERCC6 | ENSG00000225830.16 | transcript | ENST00000447839.7 | protein_coding | 4/5 | chr10 | TogoVar | ||||||
ERI2_chr16_20791340_20811472 | 20798933 | AGGATTTA others(31): Show |
A | frameshift_variant | HIGH | HG00738.hp1 | a0010 | a0010c0019 | a0010c0019t0001 | a0010c0019t0001g0059 | 1 | 412 | 0.0024 | -38 | c.829 others(45): Show |
p.Ile others(5): Show |
ERI2 | ENSG00000196678.14 | transcript | ENST00000357967.9 | protein_coding | 9/9 | 908/3502 | 829/2076 | 277/691 | chr16 | TogoVar | ||
ERI3_chr1_44216070_44360257 | 44342829 | ATATATAT others(31): Show |
A | intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 340 | 0.0029 | -38 | c.212 others(55): Show |
ERI3 | ENSG00000117419.16 | transcript | ENST00000372257.7 | protein_coding | 2/8 | chr1 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 665686 | AGAGTACG others(31): Show |
A | intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 378 | 0.0027 | -38 | c.125 others(57): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 5/5 | chr8 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 669209 | AGACGCCT others(31): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02630.hp1 HG02886.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0222a0001c0001t0001g0223a0001c0001t0002g0253others(2): Show | 5 | 378 | 0.0132 | -38 | c.106 others(55): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 4/5 | chr8 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 669247 | GGACGCCT others(31): Show |
G | intron_variant | MODIFIER | HG01099.hp1 HG01981.hp1 HG02257.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0013others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0013t0001others(2): Show | a0001c0001t0001g0103a0001c0001t0001g0203a0001c0003t0001g0124others(8): Show | 11 | 378 | 0.0291 | -38 | c.106 others(55): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 4/5 | chr8 | TogoVar |