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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GRAMD2B_chr5_126418409_126499364 | 126423537 | A | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0026 | 1 | 334 | 0.0030 | 0 | c.-70 others(3): Show |
GRAMD2B | ENSG00000155324.10 | transcript | ENST00000285689.8 | protein_coding | 1/14 | chr5 | TogoVar | ||||||
GRB10_chr7_50585068_50787896 | 50782675 | A | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02559.hp2 HG02630.hp2 HG03041.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004a0001c0012 | a0001c0001t0009a0001c0001t0010a0001c0004t0010others(1): Show | a0001c0001t0009g0005a0001c0001t0009g0006a0001c0001t0009g0008others(4): Show | 7 | 278 | 0.0252 | 0 | c.-57 others(4): Show |
GRB10 | ENSG00000106070.20 | transcript | ENST00000401949.6 | protein_coding | 1/19 | chr7 | TogoVar | ||||||
GREB1_chr2_11529045_11647788 | 11556610 | T | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01109.hp1 HG03486.hp2 |
a0002a0006 | a0002c0055a0006c0054 | a0002c0055t0044a0006c0054t0043 | a0002c0055t0044g0003a0006c0054t0043g0002 | 2 | 308 | 0.0065 | 0 | c.-5T others(2): Show |
GREB1 | ENSG00000196208.14 | transcript | ENST00000381486.7 | protein_coding | 2/33 | chr2 | TogoVar | ||||||
GREM1_chr15_32713004_32750106 | 32718140 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0253 | a0001c0001t0253g0089 | 1 | 421 | 0.0024 | 0 | c.-23 others(3): Show |
GREM1 | ENSG00000166923.12 | transcript | ENST00000651154.1 | protein_coding | 1/2 | chr15 | TogoVar | ||||||
GRHL3_chr1_24314357_24360318 | 24319463 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02109.hp1 HG02572.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0005a0002c0004t0005 | a0001c0001t0005g0031a0002c0004t0005g0064 | 2 | 372 | 0.0054 | 0 | c.-89 others(3): Show |
GRHL3 | ENSG00000158055.17 | transcript | ENST00000361548.9 | protein_coding | 1/16 | chr1 | TogoVar | ||||||
GRIA1_chr5_153485670_153818869 | 153490698 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG04204.hp1 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0140 | 1 | 194 | 0.0052 | 0 | c.-19 others(4): Show |
GRIA1 | ENSG00000155511.19 | transcript | ENST00000285900.10 | protein_coding | 1/16 | chr5 | TogoVar | ||||||
GRIA4_chr11_105605073_105987090 | 105610979 | A | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03490.hp2 | a0003 | a0003c0004 | a0003c0004t0047 | a0003c0004t0047g0097 | 1 | 184 | 0.0054 | 0 | c.-19 others(3): Show |
GRIA4 | ENSG00000152578.15 | transcript | ENST00000282499.10 | protein_coding | 2/17 | chr11 | TogoVar | ||||||
GRIK2_chr6_101388708_102075083 | 101399045 | A | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0023 | 1 | 116 | 0.0086 | 0 | c.-23 others(4): Show |
GRIK2 | ENSG00000164418.22 | transcript | ENST00000369134.9 | protein_coding | 2/17 | chr6 | TogoVar | ||||||
GRIK3_chr1_36790527_37039515 | 37034338 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01255.hp2 HG06807.hp2 |
a0001a0002 | a0001c0002a0002c0006 | a0001c0002t0027a0002c0006t0028 | a0001c0002t0027g0113a0002c0006t0028g0112 | 2 | 114 | 0.0175 | 0 | c.-23 others(4): Show |
GRIK3 | ENSG00000163873.10 | transcript | ENST00000373091.8 | protein_coding | 1/16 | chr1 | TogoVar | ||||||
GRIK5_chr19_41993324_42075206 | 42069814 | A | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0003 | 1 | 172 | 0.0058 | 0 | c.-62 others(4): Show |
GRIK5 | ENSG00000105737.10 | transcript | ENST00000593562.6 | protein_coding | 1/20 | chr19 | TogoVar | ||||||
GRIK5_chr19_41993324_42075206 | 42070086 | C | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0171 | 1 | 172 | 0.0058 | 0 | c.-89 others(4): Show |
GRIK5 | ENSG00000105737.10 | transcript | ENST00000593562.6 | protein_coding | 1/20 | chr19 | TogoVar | ||||||
GRIN2D_chr19_48388668_48449931 | 48394838 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02257.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0011 | a0001c0001t0010g0322a0001c0001t0011g0323 | 2 | 366 | 0.0055 | 0 | c.-12 others(4): Show |
GRIN2D | ENSG00000105464.4 | transcript | ENST00000263269.4 | protein_coding | 2/14 | chr19 | TogoVar | ||||||
GRIN3A_chr9_101564352_101743647 | 101738360 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02615.hp1 HG02630.hp2 HG03195.hp2 |
a0002a0005 | a0002c0022a0005c0019 | a0002c0022t0039a0005c0019t0020 | a0002c0022t0039g0234a0005c0019t0020g0232a0005c0019t0020g0233 | 3 | 324 | 0.0093 | 0 | c.-38 others(4): Show |
GRIN3A | ENSG00000198785.7 | transcript | ENST00000361820.6 | protein_coding | 1/9 | chr9 | TogoVar | ||||||
GRK4_chr4_2958571_3045760 | 2963949 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(86): Show |
a0003a0004a0006others(6): Show | a0003c0003a0003c0022a0004c0005others(8): Show | a0003c0003t0002a0003c0003t0005a0003c0022t0008others(11): Show | a0003c0003t0002g0002a0003c0003t0002g0014a0003c0003t0002g0018others(84): Show | 89 | 268 | 0.3321 | 0 | c.-12 others(4): Show |
GRK4 | ENSG00000125388.20 | transcript | ENST00000398052.9 | protein_coding | 1/16 | chr4 | TogoVar | ||||||
GRK4_chr4_2958571_3045760 | 2963956 | C | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18986.hp2 | a0003 | a0003c0022 | a0003c0022t0008 | a0003c0022t0008g0253 | 1 | 268 | 0.0037 | 0 | c.-11 others(4): Show |
GRK4 | ENSG00000125388.20 | transcript | ENST00000398052.9 | protein_coding | 1/16 | chr4 | TogoVar | ||||||
GRK5_chr10_119202571_119464745 | 119207597 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01884.hp1 HG03209.hp1 NA19043.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0088a0001c0001t0089a0002c0005t0087others(1): Show | a0001c0001t0088g0080a0001c0001t0089g0082a0002c0005t0087g0079others(1): Show | 4 | 202 | 0.0198 | 0 | c.-32 others(4): Show |
GRK5 | ENSG00000198873.12 | transcript | ENST00000392870.3 | protein_coding | 1/16 | chr10 | TogoVar | ||||||
GRK7_chr3_141758408_141824352 | 141763589 | C | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02809.hp2 HG02818.hp2 HG02886.hp2 others(4): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0016a0001c0001t0026a0001c0001t0045others(1): Show | a0001c0001t0016g0163a0001c0001t0016g0164a0001c0001t0016g0168others(4): Show | 7 | 358 | 0.0196 | 0 | c.-23 others(5): Show |
GRK7 | ENSG00000114124.3 | transcript | ENST00000682958.1 | protein_coding | 1/6 | chr3 | TogoVar | ||||||
GRK7_chr3_141758408_141824352 | 141763592 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00609.hp2 HG00642.hp1 HG00733.hp1 others(43): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0004a0003c0003others(4): Show | a0001c0001t0030a0001c0001t0031a0001c0001t0034others(12): Show | a0001c0001t0030g0036a0001c0001t0031g0035a0001c0001t0034g0015others(41): Show | 46 | 358 | 0.1285 | 0 | c.-23 others(5): Show |
GRK7 | ENSG00000114124.3 | transcript | ENST00000682958.1 | protein_coding | 1/6 | chr3 | TogoVar | ||||||
GRK7_chr3_141758408_141824352 | 141763598 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG04228.hp1 | a0002 | a0002c0002 | a0002c0002t0035 | a0002c0002t0035g0149 | 1 | 358 | 0.0028 | 0 | c.-23 others(5): Show |
GRK7 | ENSG00000114124.3 | transcript | ENST00000682958.1 | protein_coding | 1/6 | chr3 | TogoVar | ||||||
GRK7_chr3_141758408_141824352 | 141765052 | T | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0338 | 1 | 358 | 0.0028 | 0 | c.-90 others(4): Show |
GRK7 | ENSG00000114124.3 | transcript | ENST00000682958.1 | protein_coding | 1/6 | chr3 | TogoVar | ||||||
GRK7_chr3_141758408_141824352 | 141778231 | A | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01516.hp2 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0111a0001c0001t0023g0146 | 2 | 358 | 0.0056 | 0 | c.-54 others(3): Show |
GRK7 | ENSG00000114124.3 | transcript | ENST00000682958.1 | protein_coding | 3/6 | chr3 | TogoVar | ||||||
GRK7_chr3_141758408_141824352 | 141778248 | C | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0099 | 1 | 358 | 0.0028 | 0 | c.-37 others(3): Show |
GRK7 | ENSG00000114124.3 | transcript | ENST00000682958.1 | protein_coding | 3/6 | chr3 | TogoVar | ||||||
GRM1_chr6_146024062_146442601 | 146029082 | A | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0023 | 1 | 158 | 0.0063 | 0 | c.-43 others(4): Show |
GRM1 | ENSG00000152822.15 | transcript | ENST00000282753.6 | protein_coding | 1/8 | chr6 | TogoVar | ||||||
GRM3_chr7_86638909_86869879 | 86644365 | G | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02572.hp1 HG03041.hp1 HG03130.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0154a0001c0001t0006g0155a0001c0001t0006g0156others(1): Show | 4 | 216 | 0.0185 | 0 | c.-64 others(4): Show |
GRM3 | ENSG00000198822.11 | transcript | ENST00000361669.7 | protein_coding | 1/6 | chr7 | TogoVar | ||||||
GRM3_chr7_86638909_86869879 | 86644369 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01167.hp2 | a0001 | a0001c0003 | a0001c0003t0017 | a0001c0003t0017g0152 | 1 | 216 | 0.0046 | 0 | c.-64 others(4): Show |
GRM3 | ENSG00000198822.11 | transcript | ENST00000361669.7 | protein_coding | 1/6 | chr7 | TogoVar | ||||||
GRM4_chr6_34013643_34151087 | 34133625 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02280.hp2 | a0001 | a0001c0003 | a0001c0003t0036 | a0001c0003t0036g0124 | 1 | 282 | 0.0036 | 0 | c.-12 others(4): Show |
GRM4 | ENSG00000124493.14 | transcript | ENST00000538487.7 | protein_coding | 2/11 | chr6 | TogoVar | ||||||
GRM5_chr11_88499642_89070982 | 89065922 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0184 | 1 | 184 | 0.0054 | 0 | c.-34 others(4): Show |
GRM5 | ENSG00000168959.15 | transcript | ENST00000305447.5 | protein_coding | 1/10 | chr11 | TogoVar | ||||||
GRM8_chr7_126433598_127257941 | 127252818 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0107 | 1 | 108 | 0.0093 | 0 | c.-33 others(4): Show |
GRM8 | ENSG00000179603.19 | transcript | ENST00000339582.7 | protein_coding | 1/11 | chr7 | TogoVar | ||||||
GRXCR1_chr4_42887713_43035658 | 42892964 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0040 | 1 | 338 | 0.0030 | 0 | c.-30 others(4): Show |
GRXCR1 | ENSG00000215203.3 | transcript | ENST00000399770.3 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
GRXCR1_chr4_42887713_43035658 | 42893015 | A | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02572.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0003a0001c0001t0006g0016 | 2 | 338 | 0.0059 | 0 | c.-25 others(4): Show |
GRXCR1 | ENSG00000215203.3 | transcript | ENST00000399770.3 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
GRXCR1_chr4_42887713_43035658 | 42893159 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03669.hp2 HG04115.hp2 |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0010a0005c0006t0011 | a0001c0001t0010g0284a0005c0006t0011g0283 | 2 | 338 | 0.0059 | 0 | c.-10 others(4): Show |
GRXCR1 | ENSG00000215203.3 | transcript | ENST00000399770.3 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
GSDMC_chr8_129743196_129791624 | 129786107 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00741.hp2 HG02257.hp1 HG02809.hp1 others(2): Show |
a0002a0005 | a0002c0002a0005c0010 | a0002c0002t0008a0005c0010t0006 | a0002c0002t0008g0263a0002c0002t0008g0264a0005c0010t0006g0060others(1): Show | 5 | 416 | 0.0120 | 0 | c.-10 others(4): Show |
GSDMC | ENSG00000147697.10 | transcript | ENST00000276708.9 | protein_coding | 1/14 | chr8 | TogoVar | ||||||
GSDMD_chr8_143553346_143568062 | 143558433 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02280.hp2 HG02559.hp2 HG02630.hp2 others(5): Show |
a0001 | a0001c0004a0001c0011 | a0001c0004t0002a0001c0011t0002 | a0001c0004t0002g0007a0001c0011t0002g0007 | 8 | 417 | 0.0192 | 0 | c.-23 others(3): Show |
GSDMD | ENSG00000104518.11 | transcript | ENST00000262580.9 | protein_coding | 1/11 | chr8 | TogoVar | ||||||
GSDMD_chr8_143553346_143568062 | 143558445 | G | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA19030.hp1 | a0001 | a0001c0012 | a0001c0012t0004 | a0001c0012t0004g0043 | 1 | 417 | 0.0024 | 0 | c.-11 others(3): Show |
GSDMD | ENSG00000104518.11 | transcript | ENST00000262580.9 | protein_coding | 1/11 | chr8 | TogoVar | ||||||
GSDME_chr7_24693355_24762464 | 24757405 | C | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01081.hp1 HG01243.hp2 HG02572.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0007a0001c0001t0015a0002c0003t0007 | a0001c0001t0007g0351a0001c0001t0007g0352a0001c0001t0007g0353others(4): Show | 7 | 410 | 0.0171 | 0 | c.-29 others(3): Show |
GSDME | ENSG00000105928.16 | transcript | ENST00000645220.1 | protein_coding | 1/10 | chr7 | TogoVar | ||||||
GSK3B_chr3_119816321_120099447 | 120093712 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA19012.hp2 NA19080.hp1 |
a0001 | a0001c0001 | a0001c0001t0065a0001c0001t0066 | a0001c0001t0065g0298a0001c0001t0066g0299 | 2 | 300 | 0.0067 | 0 | c.-27 others(4): Show |
GSK3B | ENSG00000082701.17 | transcript | ENST00000264235.13 | protein_coding | 1/11 | chr3 | TogoVar | ||||||
GSK3B_chr3_119816321_120099447 | 120093959 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03041.hp1 | a0001 | a0001c0002 | a0001c0002t0053 | a0001c0002t0053g0207 | 1 | 300 | 0.0033 | 0 | c.-52 others(4): Show |
GSK3B | ENSG00000082701.17 | transcript | ENST00000264235.13 | protein_coding | 1/11 | chr3 | TogoVar | ||||||
GSN_chr9_121263162_121337842 | 121268202 | C | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01081.hp1 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0076 | 1 | 322 | 0.0031 | 0 | c.-12 others(4): Show |
GSN | ENSG00000148180.22 | transcript | ENST00000432226.7 | protein_coding | 1/18 | chr9 | TogoVar | ||||||
GSPT1_chr16_11863128_11920956 | 11915782 | C | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18987.hp2 | a0005 | a0005c0006 | a0005c0006t0034 | a0005c0006t0034g0072 | 1 | 372 | 0.0027 | 0 | c.-62 others(3): Show |
GSPT1 | ENSG00000103342.13 | transcript | ENST00000434724.7 | protein_coding | 1/15 | chr16 | TogoVar | ||||||
GSPT1_chr16_11863128_11920956 | 11915924 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(297): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0013a0001c0014others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(53): Show | a0001c0001t0001g0146a0001c0001t0001g0157a0001c0001t0001g0158others(293): Show | 300 | 372 | 0.8065 | 0 | c.-20 others(4): Show |
GSPT1 | ENSG00000103342.13 | transcript | ENST00000434724.7 | protein_coding | 1/15 | chr16 | TogoVar | ||||||
GSTCD_chr4_105703784_105852725 | 105708850 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00408.hp2 HG00438.hp2 HG00597.hp2 others(69): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(8): Show | a0001c0001t0003g0002a0001c0001t0003g0068a0001c0001t0003g0069others(68): Show | 72 | 186 | 0.3871 | 0 | c.-18 others(4): Show |
GSTCD | ENSG00000138780.15 | transcript | ENST00000515279.6 | protein_coding | 1/12 | chr4 | TogoVar | ||||||
GSTM3_chr1_109728937_109746038 | 109740294 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02486.hp1 HG03486.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0032a0001c0001t0052 | a0001c0001t0032g0035a0001c0001t0032g0070a0001c0001t0052g0038 | 3 | 400 | 0.0075 | 0 | c.-7C others(2): Show |
GSTM3 | ENSG00000134202.12 | transcript | ENST00000361066.7 | protein_coding | 2/9 | chr1 | TogoVar | ||||||
GSTO2_chr10_104264184_104309950 | 104274783 | A | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02257.hp2 | a0003 | a0003c0006 | a0003c0006t0042 | a0003c0006t0042g0241 | 1 | 300 | 0.0033 | 0 | c.-13 others(4): Show |
GSTO2 | ENSG00000065621.15 | transcript | ENST00000338595.7 | protein_coding | 2/7 | chr10 | TogoVar | ||||||
GSTZ1_chr14_77316036_77336597 | 77321107 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0131 | 1 | 434 | 0.0023 | 0 | c.-62 others(3): Show |
GSTZ1 | ENSG00000100577.19 | transcript | ENST00000216465.10 | protein_coding | 1/9 | chr14 | TogoVar | ||||||
GTF2A1_chr14_81170452_81225959 | 81220882 | C | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0282 | 1 | 350 | 0.0029 | 0 | c.-36 others(4): Show |
GTF2A1 | ENSG00000165417.12 | transcript | ENST00000553612.6 | protein_coding | 1/9 | chr14 | TogoVar | ||||||
GTF2E2_chr8_30573318_30663236 | 30658034 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0253 | 1 | 378 | 0.0027 | 0 | c.-66 others(3): Show |
GTF2E2 | ENSG00000197265.9 | transcript | ENST00000355904.9 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
GTF2H2C_chr5_69555191_69600221 | 69560289 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp2 HG00642.hp2 HG01081.hp1 others(21): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0005 | a0001c0001t0016a0001c0001t0017a0001c0001t0028others(16): Show | a0001c0001t0016g0095a0001c0001t0016g0096a0001c0001t0017g0089others(20): Show | 24 | 167 | 0.1437 | 0 | c.-24 others(4): Show |
GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 1/17 | chr5 | TogoVar | ||||||
GTF2H2C_chr5_69555191_69600221 | 69562718 | C | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02572.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0076a0001c0001t0078 | a0001c0001t0076g0006a0001c0001t0078g0016 | 2 | 167 | 0.0120 | 0 | c.-86 others(3): Show |
GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 2/17 | chr5 | TogoVar | ||||||
GTF2H2_chr5_71030347_71072676 | 71067608 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0068 | 1 | 79 | 0.0127 | 0 | c.-14 others(4): Show |
GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 1/16 | chr5 | TogoVar | ||||||
GTF2H4_chr6_30903207_30919106 | 30908375 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(186): Show |
a0001a0003a0004 | a0001c0002a0001c0003a0001c0006others(2): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0005others(5): Show | a0001c0002t0002g0001a0001c0002t0002g0009a0001c0002t0002g0016others(17): Show | 189 | 411 | 0.4599 | 0 | c.-32 others(3): Show |
GTF2H4 | ENSG00000213780.11 | transcript | ENST00000259895.9 | protein_coding | 1/14 | chr6 | TogoVar |