| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ERICH1_chr8_659200_736224 | 675952 | GTGAGGAC others(74): Show |
G | intron_variant | MODIFIER | HG01433.hp2 HG02572.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0247a0001c0002t0001g0023 | 2 | 378 | 0.0053 | -81 | c.305 others(98): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
| ERICH1_chr8_659200_736224 | 676054 | GCCCCTCG others(74): Show |
G | intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0289 | 1 | 378 | 0.0027 | -81 | c.305 others(98): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
| ETNPPL_chr4_108737053_108768053 | 108747175 | TATATAAT others(74): Show |
T | intron_variant | MODIFIER | HG02970.hp2 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0296a0001c0001t0001g0316 | 2 | 378 | 0.0053 | -81 | c.108 others(98): Show |
ETNPPL | ENSG00000164089.9 | transcript | ENST00000296486.8 | protein_coding | 9/12 | chr4 | TogoVar | ||||||
| ETS1_chr11_128453765_128592558 | 128585059 | AGAAAGAA others(74): Show |
A | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0233 | 1 | 286 | 0.0035 | -81 | c.-15 others(98): Show |
ETS1 | ENSG00000134954.14 | transcript | ENST00000392668.8 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
| ETS2_chr21_38800929_38829955 | 38815976 | AAGGAAGG others(74): Show |
A | intron_variant | MODIFIER | HG02486.hp1 HG02723.hp2 |
a0002 | a0002c0004 | a0002c0004t0009 | a0002c0004t0009g0110a0002c0004t0009g0139 | 2 | 426 | 0.0047 | -81 | c.505 others(96): Show |
ETS2 | ENSG00000157557.13 | transcript | ENST00000360938.8 | protein_coding | 5/9 | chr21 | TogoVar | ||||||
| EVA1C_chr21_32407706_32520387 | 32477737 | CCCCTCCC others(74): Show |
C | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0024 | a0001c0024t0001 | a0001c0024t0001g0231 | 1 | 346 | 0.0029 | -81 | c.634 others(98): Show |
EVA1C | ENSG00000166979.13 | transcript | ENST00000300255.7 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| EYS_chr6_63714980_65712226 | 65204952 | CTAGAAGA others(74): Show |
C | intron_variant | MODIFIER | HG02622.hp2 HG02886.hp1 HG03209.hp1 |
a0001a0013a0020 | a0001c0012a0013c0020a0020c0015 | a0001c0012t0002a0013c0020t0002a0020c0015t0002 | a0001c0012t0002g0021a0013c0020t0002g0022a0020c0015t0002g0023 | 3 | 24 | 0.1250 | -81 | c.202 others(102): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 12/42 | chr6 | TogoVar | ||||||
| EYS_chr6_63714980_65712226 | 65204975 | CTAGAAGA others(74): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02622.hp1 HG03098.hp1 |
a0006a0009a0015 | a0006c0022a0009c0006a0015c0011 | a0006c0022t0001a0009c0006t0001a0015c0011t0002 | a0006c0022t0001g0011a0009c0006t0001g0004a0015c0011t0002g0018 | 3 | 24 | 0.1250 | -81 | c.202 others(102): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 12/42 | chr6 | TogoVar | ||||||
| FAM151B_chr5_80483100_80547563 | 80545273 | CACAATAA others(74): Show |
C | downstream_gene_variant | MODIFIER | HG03239.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0112 | 1 | 356 | 0.0028 | -81 | c.*34 others(92): Show |
FAM151B | ENSG00000152380.10 | transcript | ENST00000282226.5 | protein_coding | 2711 | chr5 | TogoVar | ||||||
| FAM90A23_chr8_7574644_7587653 | 7586240 | TGTAAGAG others(74): Show |
T | upstream_gene_variant | MODIFIER | NA18944.hp1 | a0017 | a0017c0021 | a0017c0021t0000 | a0017c0021t0000g0024 | 1 | 142 | 0.0070 | -81 | c.-36 others(92): Show |
FAM90A23 | ENSG00000285765.1 | transcript | ENST00000648435.1 | protein_coding | 3588 | chr8 | TogoVar | ||||||
| FARP2_chr2_241351285_241499841 | 241457378 | GCACTAGG others(74): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG01106.hp1 HG01192.hp1 others(29): Show |
a0001a0007a0015others(2): Show | a0001c0001a0001c0003a0007c0013others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0007others(5): Show | a0001c0001t0001g0123a0001c0001t0001g0136a0001c0003t0001g0007others(29): Show | 32 | 378 | 0.0847 | -81 | c.158 others(98): Show |
FARP2 | ENSG00000006607.14 | transcript | ENST00000264042.8 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| FARP2_chr2_241351285_241499841 | 241457389 | TGCTTTGG others(74): Show |
T | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 378 | 0.0027 | -81 | c.158 others(98): Show |
FARP2 | ENSG00000006607.14 | transcript | ENST00000264042.8 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| FARP2_chr2_241351285_241499841 | 241457459 | ACACTAGG others(74): Show |
A | intron_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0248 | 1 | 378 | 0.0027 | -81 | c.158 others(98): Show |
FARP2 | ENSG00000006607.14 | transcript | ENST00000264042.8 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| FARP2_chr2_241351285_241499841 | 241457540 | GCACTAGG others(74): Show |
G | intron_variant | MODIFIER | HG02486.hp1 HG02897.hp1 HG03098.hp1 others(2): Show |
a0001a0016 | a0001c0001a0001c0004a0016c0030 | a0001c0001t0001a0001c0004t0001a0016c0030t0001 | a0001c0001t0001g0005a0001c0001t0001g0093a0001c0001t0001g0098others(2): Show | 5 | 378 | 0.0132 | -81 | c.158 others(98): Show |
FARP2 | ENSG00000006607.14 | transcript | ENST00000264042.8 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| FARP2_chr2_241351285_241499841 | 241457644 | CGGAGAGG others(74): Show |
C | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 378 | 0.0027 | -81 | c.158 others(98): Show |
FARP2 | ENSG00000006607.14 | transcript | ENST00000264042.8 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| FARS2_chr6_5256513_5776583 | 5661775 | TGAAGAAA others(74): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG02055.hp2 HG02818.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0004t0002others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0002g0105others(4): Show | 7 | 170 | 0.0412 | -81 | c.121 others(102): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| FBLN7_chr2_112133385_112193218 | 112139502 | GGCCAGCG others(74): Show |
G | intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0258 | 1 | 346 | 0.0029 | -81 | c.75+ others(94): Show |
FBLN7 | ENSG00000144152.13 | transcript | ENST00000331203.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| FBRSL1_chr12_132485151_132590188 | 132562984 | ACCTGGCC others(74): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(69): Show |
a0000a0001a0002others(10): Show | a0000c0009a0000c0019a0000c0023others(22): Show | a0000c0009t0001a0000c0019t0011a0000c0023t0002others(32): Show | a0000c0009t0001g0227a0000c0019t0011g0313a0000c0023t0002g0244others(69): Show | 72 | 348 | 0.2069 | -81 | c.646 others(98): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| FBRSL1_chr12_132485151_132590188 | 132563687 | TTGACACA others(74): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02145.hp2 others(7): Show |
a0000a0001a0002others(1): Show | a0000c0030a0000c0080a0001c0011others(2): Show | a0000c0030t0019a0000c0080t0045a0001c0011t0019others(6): Show | a0000c0030t0019g0145a0000c0030t0019g0147a0000c0080t0045g0073others(7): Show | 10 | 348 | 0.0287 | -81 | c.646 others(98): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| FBRSL1_chr12_132485151_132590188 | 132563712 | CCACCCCC others(74): Show |
C | intron_variant | MODIFIER | HG01123.hp1 HG03490.hp2 NA18942.hp2 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0004a0001c0005t0006 | a0001c0003t0004g0016a0001c0003t0004g0052a0001c0005t0006g0074 | 3 | 348 | 0.0086 | -81 | c.646 others(98): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| FBRSL1_chr12_132485151_132590188 | 132563743 | CTGTGCAC others(74): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(106): Show |
a0000a0001a0002others(15): Show | a0000c0009a0000c0019a0000c0023others(33): Show | a0000c0009t0001a0000c0019t0011a0000c0023t0002others(50): Show | a0000c0009t0001g0227a0000c0019t0011g0313a0000c0023t0002g0244others(106): Show | 109 | 348 | 0.3132 | -81 | c.646 others(98): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| FBRSL1_chr12_132485151_132590188 | 132563797 | CCCCGTCG others(74): Show |
C | intron_variant | MODIFIER | HG02602.hp1 | a0000 | a0000c0022 | a0000c0022t0001 | a0000c0022t0001g0134 | 1 | 348 | 0.0029 | -81 | c.646 others(98): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| FBRSL1_chr12_132485151_132590188 | 132563822 | TTGTGTGC others(74): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00438.hp1 others(97): Show |
a0000a0002a0003others(8): Show | a0000c0009a0000c0014a0000c0022others(19): Show | a0000c0009t0001a0000c0009t0003a0000c0009t0008others(35): Show | a0000c0009t0001g0161a0000c0009t0001g0224a0000c0009t0001g0231others(96): Show | 100 | 348 | 0.2874 | -81 | c.646 others(98): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 5/18 | chr12 | TogoVar | ||||||
| FGF1_chr5_142587178_142691090 | 142608498 | ATATATAT others(74): Show |
A | intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0274 | 1 | 340 | 0.0029 | -81 | c.169 others(98): Show |
FGF1 | ENSG00000113578.18 | transcript | ENST00000337706.7 | protein_coding | 2/3 | chr5 | TogoVar | ||||||
| FHOD3_chr18_36292713_36785220 | 36763338 | CAATATGC others(74): Show |
C | intron_variant | MODIFIER | HG02280.hp2 | a0004 | a0004c0012 | a0004c0012t0001 | a0004c0012t0001g0092 | 1 | 168 | 0.0060 | -81 | c.462 others(100): Show |
FHOD3 | ENSG00000134775.16 | transcript | ENST00000590592.6 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| FKBP5_chr6_35568590_35693915 | 35682053 | ATGTAAAT others(74): Show |
A | intron_variant | MODIFIER | HG01257.hp2 HG01361.hp2 HG01433.hp2 others(40): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0002t0001others(5): Show | a0001c0001t0001g0127a0001c0001t0001g0137a0001c0001t0007g0125others(40): Show | 43 | 302 | 0.1424 | -81 | c.-20 others(98): Show |
FKBP5 | ENSG00000096060.15 | transcript | ENST00000357266.9 | protein_coding | 1/10 | chr6 | TogoVar | ||||||
| FLYWCH1_chr16_2906931_2956208 | 2907085 | CAGAGTCT others(74): Show |
C | upstream_gene_variant | MODIFIER | NA19072.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0156 | 1 | 416 | 0.0024 | -81 | c.-52 others(92): Show |
FLYWCH1 | ENSG00000059122.17 | transcript | ENST00000253928.14 | protein_coding | 4845 | chr16 | TogoVar | ||||||
| FNDC11_chr20_63549159_63561695 | 63559459 | CAGTCAGG others(74): Show |
C | downstream_gene_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 416 | 0.0024 | -81 | c.*28 others(92): Show |
FNDC11 | ENSG00000125531.7 | transcript | ENST00000370097.2 | protein_coding | 2765 | chr20 | TogoVar | ||||||
| FNDC11_chr20_63549159_63561695 | 63559719 | CAGTCAGG others(74): Show |
C | downstream_gene_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG02056.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0002t0001g0002 | 13 | 416 | 0.0313 | -81 | c.*31 others(92): Show |
FNDC11 | ENSG00000125531.7 | transcript | ENST00000370097.2 | protein_coding | 3025 | chr20 | TogoVar | ||||||
| FOXN3_chr14_89151177_89422233 | 89360822 | ACCTCCAC others(74): Show |
A | intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0197 | 1 | 230 | 0.0044 | -81 | c.544 others(100): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | ||||||
| FOXN3_chr14_89151177_89422233 | 89360852 | TCCACCAC others(74): Show |
T | intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0053 | 1 | 230 | 0.0044 | -81 | c.544 others(100): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | ||||||
| FOXN3_chr14_89151177_89422233 | 89360954 | ACCACCTC others(74): Show |
A | intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0094 | a0001c0001t0094g0034 | 1 | 230 | 0.0044 | -81 | c.544 others(100): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | ||||||
| FOXN3_chr14_89151177_89422233 | 89361291 | CCAGCACC others(74): Show |
C | intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0054 | 1 | 230 | 0.0044 | -81 | c.544 others(100): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | ||||||
| FOXN3_chr14_89151177_89422233 | 89361773 | CACCTCCA others(74): Show |
C | intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0086 | a0001c0001t0086g0130 | 1 | 230 | 0.0044 | -81 | c.544 others(100): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | ||||||
| FOXN3_chr14_89151177_89422233 | 89362063 | CCACTACC others(74): Show |
C | intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 230 | 0.0044 | -81 | c.544 others(100): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | ||||||
| FOXN3_chr14_89151177_89422233 | 89362071 | ACCTCCAG others(74): Show |
A | intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0066 | 1 | 230 | 0.0044 | -81 | c.544 others(100): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | ||||||
| FSHR_chr2_48957157_49159515 | 49127749 | TCTTTCTT others(74): Show |
T | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 350 | 0.0029 | -81 | c.152 others(100): Show |
FSHR | ENSG00000170820.12 | transcript | ENST00000406846.7 | protein_coding | 1/9 | chr2 | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241807534 | CCCCCCTC others(74): Show |
C | downstream_gene_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0084 | 1 | 314 | 0.0032 | -81 | c.*33 others(92): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3248 | chr2 | TogoVar | ||||||
| GCH1_chr14_54837017_54907826 | 54880678 | CATATATA others(74): Show |
C | intron_variant | MODIFIER | HG02056.hp1 NA18986.hp2 NA18990.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0247a0001c0001t0002g0258a0001c0001t0002g0259 | 3 | 346 | 0.0087 | -81 | c.344 others(100): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | TogoVar | ||||||
| GFRA1_chr10_116051925_116278206 | 116196568 | AATATATA others(74): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp2 others(42): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(36): Show | a0001c0001t0001g0077a0001c0001t0006g0130a0001c0001t0007g0008others(42): Show | 45 | 214 | 0.2103 | -81 | c.433 others(100): Show |
GFRA1 | ENSG00000151892.16 | transcript | ENST00000355422.11 | protein_coding | 5/10 | chr10 | TogoVar | ||||||
| GGT1_chr22_24598193_24633996 | 24605091 | TATAATAT others(74): Show |
T | intron_variant | MODIFIER | HG03834.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0279 | 1 | 426 | 0.0024 | -81 | c.-42 others(100): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| GGT1_chr22_24598193_24633996 | 24605585 | TATAATAT others(74): Show |
T | intron_variant | MODIFIER | HG01099.hp1 HG01884.hp1 HG01884.hp2 others(4): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0002t0007a0002c0003t0003 | a0002c0002t0001g0007a0002c0002t0001g0274a0002c0002t0007g0017others(4): Show | 7 | 426 | 0.0164 | -81 | c.-42 others(100): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 1/15 | chr22 | TogoVar | ||||||
| GGT1_chr22_24598193_24633996 | 24605797 | TATGATGT others(74): Show |
T | intron_variant | MODIFIER | HG02818.hp2 HG02922.hp1 NA18906.hp1 |
a0001a0002 | a0001c0013a0002c0002 | a0001c0013t0001a0002c0002t0001 | a0001c0013t0001g0280a0002c0002t0001g0281a0002c0002t0001g0287 | 3 | 426 | 0.0070 | -81 | c.-42 others(100): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 1/15 | chr22 | TogoVar | ||||||
| GNAL_chr18_11684264_11890685 | 11769045 | AATATATA others(74): Show |
A | intron_variant | MODIFIER | HG02080.hp2 | a0002 | a0002c0002 | a0002c0002t0056 | a0002c0002t0056g0046 | 1 | 248 | 0.0040 | -81 | c.624 others(100): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 4/11 | chr18 | TogoVar | ||||||
| GNAL_chr18_11747085_11890685 | 11769045 | AATATATA others(74): Show |
A | intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0134 | a0001c0001t0134g0213 | 1 | 284 | 0.0035 | -81 | c.393 others(100): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 4/11 | chr18 | TogoVar | ||||||
| GOLGA6L22_chr15_22453903_22474226 | 22465762 | GGCAGGAG others(74): Show |
G | conservative_inframe_deletion | MODERATE | HG02451.hp1 HG02451.hp2 NA18522.hp2 others(1): Show |
a0010a0028 | a0010c0015a0028c0043 | a0010c0015t0004a0028c0043t0010 | a0010c0015t0004g0015a0010c0015t0004g0060a0028c0043t0010g0063 | 4 | 226 | 0.0177 | -81 | c.153 others(90): Show |
p.Lys others(13): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 8/9 | 1622/4401 | 1531/2565 | 511/854 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
| GSG1L_chr16_27782528_28068714 | 27888476 | CTCTTTCC others(74): Show |
C | intron_variant | MODIFIER | HG01175.hp1 HG02027.hp1 HG02717.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0114a0001c0001t0001g0131a0001c0001t0001g0150others(7): Show | 10 | 240 | 0.0417 | -81 | c.398 others(98): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 2/6 | chr16 | TogoVar | ||||||
| HECW2_chr2_196189072_196598554 | 196598187 | GAGAGGGG others(74): Show |
G | upstream_gene_variant | MODIFIER | HG01496.hp1 HG02109.hp2 HG02258.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0006a0001c0001t0009a0001c0002t0032others(5): Show | a0001c0001t0006g0014a0001c0001t0009g0015a0001c0002t0032g0090others(5): Show | 8 | 112 | 0.0714 | -81 | c.-47 others(92): Show |
HECW2 | ENSG00000138411.13 | transcript | ENST00000644978.2 | protein_coding | 4634 | chr2 | TogoVar | ||||||
| HELZ2_chr20_63553086_63579239 | 63559459 | CAGTCAGG others(74): Show |
C | intron_variant | MODIFIER | HG00642.hp1 | a0007 | a0007c0010 | a0007c0010t0003 | a0007c0010t0003g0190 | 1 | 390 | 0.0026 | -81 | c.782 others(97): Show |
HELZ2 | ENSG00000130589.16 | transcript | ENST00000467148.2 | protein_coding | 19/19 | chr20 | TogoVar | ||||||
| HELZ2_chr20_63553086_63579239 | 63559719 | CAGTCAGG others(74): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG02056.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0004a0002c0002t0005a0002c0002t0006others(5): Show | a0001c0001t0004g0051a0002c0002t0005g0032a0002c0002t0005g0314others(8): Show | 13 | 390 | 0.0333 | -81 | c.782 others(98): Show |
HELZ2 | ENSG00000130589.16 | transcript | ENST00000467148.2 | protein_coding | 19/19 | chr20 | TogoVar |