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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASS1_chr9_130439961_130506274 | 130504375 | T | TAAAAATA | downstream_gene_variant | MODIFIER | HG02615.hp2 HG02809.hp2 HG02970.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 a0001c0001t0001g0139 a0001c0001t0001g0167 others(2): Show |
5 | 372 | 0.0134 | 7 | c.*33 others(18): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 3102 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116632205 | A | AAAGAAAG | intron_variant | MODIFIER | HG00735.hp1 HG01099.hp1 HG01243.hp1 others(6): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0002others(4): Show | a0001c0001t0001g0099 a0001c0001t0006g0014 a0001c0001t0006g0016 others(6): Show |
9 | 39 | 0.2308 | 7 | c.307 others(28): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 17/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116642132 | C | CCAAAAAA | intron_variant | MODIFIER | HG00735.hp1 NA19030.hp1 |
a0001 | a0001c0002a0001c0007 | a0001c0002t0001a0001c0007t0001 | a0001c0002t0001g0036 a0001c0007t0001g0011 |
2 | 25 | 0.0800 | 7 | c.307 others(26): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 17/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116726731 | A | ACATGGGG | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG03130.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0021others(1): Show | a0001c0001t0011a0001c0003t0006a0001c0021t0006others(1): Show | a0001c0001t0011g0002 a0001c0003t0006g0026 a0001c0021t0006g0055 others(1): Show |
4 | 100 | 0.0400 | 7 | c.262 others(24): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 15/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116775806 | A | AGGAGGAG | intron_variant | MODIFIER | HG00099.hp1 HG01109.hp1 HG01243.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0008others(5): Show | a0001c0001t0003g0013 a0001c0001t0003g0062 a0001c0001t0006g0016 others(6): Show |
9 | 100 | 0.0900 | 7 | c.239 others(28): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 13/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116790955 | A | AAAGAAAG | intron_variant | MODIFIER | HG01884.hp2 HG03130.hp1 HG03471.hp2 others(1): Show |
a0001a0002 | a0001c0002a0001c0021a0001c0025others(1): Show | a0001c0002t0004a0001c0021t0006a0001c0025t0001others(1): Show | a0001c0002t0004g0043 a0001c0021t0006g0055 a0001c0025t0001g0080 others(1): Show |
4 | 90 | 0.0444 | 7 | c.239 others(28): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 13/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117016611 | T | TATGTTAC | intron_variant | MODIFIER | HG02559.hp1 HG02572.hp2 HG02886.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0011a0001c0014others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(3): Show | a0001c0001t0001g0100 a0001c0001t0006g0079 a0001c0001t0007g0087 others(3): Show |
6 | 100 | 0.0600 | 7 | c.142 others(26): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 6/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117048963 | C | CTTTTTTT | intron_variant | MODIFIER | HG01496.hp1 HG02809.hp2 HG03471.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0002others(1): Show | a0001c0001t0001g0015 a0001c0002t0001g0036 a0001c0003t0002g0044 others(1): Show |
4 | 36 | 0.1111 | 7 | c.127 others(26): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 5/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117060510 | A | AAGGAAGG | intron_variant | MODIFIER | HG01884.hp2 HG02451.hp2 HG02615.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0005a0001c0001t0006a0001c0003t0007others(2): Show | a0001c0001t0005g0077 a0001c0001t0006g0079 a0001c0003t0007g0071 others(2): Show |
5 | 48 | 0.1042 | 7 | c.127 others(28): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 5/22 | chr9 | TogoVar | |||||||
ASXL1_chr20_32353331_32444319 | 32397250 | C | CTTTTTTT | intron_variant | MODIFIER | HG02559.hp2 HG02572.hp2 HG02723.hp2 others(5): Show |
a0001a0008 | a0001c0002a0008c0011 | a0001c0002t0002a0001c0002t0005a0008c0011t0002 | a0001c0002t0002g0197 a0001c0002t0002g0236 a0001c0002t0002g0241 others(5): Show |
8 | 45 | 0.1778 | 7 | c.252 others(26): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASXL2_chr2_25728753_25883487 | 25843814 | T | TAAAAAAA | intron_variant | MODIFIER | HG02109.hp1 HG02602.hp2 HG02647.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0019 | a0001c0001t0005g0213 a0001c0001t0005g0215 a0001c0001t0005g0216 others(4): Show |
7 | 119 | 0.0588 | 7 | c.140 others(24): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ASXL2_chr2_25728753_25883487 | 25856363 | C | CTTTTTTT | intron_variant | MODIFIER | HG01109.hp2 HG01433.hp1 HG02109.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0014others(6): Show | a0001c0001t0001g0102 a0001c0001t0001g0107 a0001c0001t0001g0127 others(18): Show |
21 | 64 | 0.3281 | 7 | c.58- others(24): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
ASXL3_chr18_33573219_33756195 | 33713341 | A | ACCCCCCC | intron_variant | MODIFIER | HG01071.hp1 HG01943.hp2 HG02109.hp1 others(9): Show |
a0001a0004 | a0001c0001a0001c0016a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(3): Show | a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0002g0090 others(9): Show |
12 | 209 | 0.0574 | 7 | c.880 others(26): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATAD1_chr10_87746512_87823226 | 87819263 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00408.hp1 HG01106.hp2 HG03471.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0273 a0001c0001t0002g0119 a0001c0001t0002g0120 others(7): Show |
10 | 76 | 0.1316 | 7 | c.-11 others(18): Show |
ATAD1 | ENSG00000138138.14 | transcript | ENST00000680024.1 | protein_coding | 1038 | chr10 | TogoVar | |||||||
ATAD2B_chr2_23743664_23932123 | 23745422 | A | AAGGAAGG | downstream_gene_variant | MODIFIER | HG01070.hp1 HG01891.hp1 HG03654.hp2 others(1): Show |
a0001 | a0001c0001a0001c0006a0001c0016 | a0001c0001t0001a0001c0001t0002a0001c0006t0001others(1): Show | a0001c0001t0001g0175 a0001c0001t0002g0069 a0001c0006t0001g0181 others(1): Show |
4 | 178 | 0.0225 | 7 | c.*66 others(18): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 3241 | chr2 | TogoVar | |||||||
ATAD2B_chr2_23743664_23932123 | 23805795 | T | TAAAAAAA | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp2 HG01074.hp2 others(21): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0003a0001c0002t0001a0001c0002t0003others(4): Show | a0001c0001t0003g0107 a0001c0001t0003g0224 a0001c0002t0001g0238 others(21): Show |
24 | 130 | 0.1846 | 7 | c.245 others(26): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 18/27 | chr2 | TogoVar | |||||||
ATAD2B_chr2_23743664_23932123 | 23805806 | A | AAAAAAAC | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(80): Show |
a0001a0004a0005others(2): Show | a0001c0001a0001c0008a0001c0015others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0073 others(80): Show |
83 | 237 | 0.3502 | 7 | c.245 others(26): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 18/27 | chr2 | TogoVar | |||||||
ATAD2B_chr2_23743664_23932123 | 23862401 | G | GTTTTTTT | intron_variant | MODIFIER | HG01167.hp1 HG01255.hp2 HG01261.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0158 a0001c0001t0004g0005 a0001c0001t0004g0109 others(5): Show |
8 | 133 | 0.0602 | 7 | c.147 others(24): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ATAD2B_chr2_23743664_23932123 | 23870285 | C | CTTTTTTT | intron_variant | MODIFIER | HG00735.hp1 HG01074.hp2 HG01257.hp2 others(11): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003a0001c0002t0007 | a0001c0002t0001g0238 a0001c0002t0003g0225 a0001c0002t0003g0228 others(11): Show |
14 | 85 | 0.1647 | 7 | c.978 others(22): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 8/27 | chr2 | TogoVar | |||||||
ATAD2B_chr2_23743664_23932123 | 23910651 | T | TGAGGTCA | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp2 HG01074.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001a0001c0002t0003others(2): Show | a0001c0001t0003g0007 a0001c0001t0003g0107 a0001c0001t0003g0224 others(21): Show |
24 | 244 | 0.0984 | 7 | c.217 others(26): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ATAD3B_chr1_1466765_1502848 | 1469099 | T | TAAAAAAA | upstream_gene_variant | MODIFIER | HG02165.hp2 HG02559.hp2 NA18959.hp2 others(3): Show |
a0001a0002a0023 | a0001c0001a0002c0002a0023c0036 | a0001c0001t0001a0002c0002t0005a0023c0036t0001 | a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0127 others(2): Show |
6 | 48 | 0.1250 | 7 | c.-27 others(18): Show |
ATAD3B | ENSG00000160072.20 | transcript | ENST00000673477.1 | protein_coding | 2665 | chr1 | TogoVar | |||||||
ATAD3C_chr1_1444689_1475163 | 1469099 | T | TAAAAAAA | 3_prime_UTR_variant | MODIFIER | HG01346.hp2 HG02165.hp1 HG02559.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(2): Show | a0001c0001t0178a0001c0004t0020a0001c0004t0109others(5): Show | a0001c0001t0178g0221 a0001c0004t0020g0002 a0001c0004t0109g0079 others(6): Show |
14 | 61 | 0.2295 | 7 | c.*60 others(16): Show |
ATAD3C | ENSG00000215915.10 | transcript | ENST00000378785.7 | protein_coding | 12/12 | 607 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATAD5_chr17_30826966_30900869 | 30830460 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00544.hp2 HG02300.hp2 HG02486.hp1 others(7): Show |
a0002 | a0002c0002a0002c0019 | a0002c0002t0002a0002c0019t0013 | a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0008 others(7): Show |
10 | 117 | 0.0855 | 7 | c.-18 others(18): Show |
ATAD5 | ENSG00000176208.9 | transcript | ENST00000321990.5 | protein_coding | 1505 | chr17 | TogoVar | |||||||
ATAD5_chr17_30826966_30900869 | 30850870 | T | TATATATA | intron_variant | MODIFIER | HG03492.hp2 HG04204.hp2 NA18951.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0016 | a0001c0001t0003g0188 a0001c0001t0003g0223 a0001c0001t0003g0257 others(2): Show |
5 | 264 | 0.0189 | 7 | c.245 others(26): Show |
ATAD5 | ENSG00000176208.9 | transcript | ENST00000321990.5 | protein_coding | 6/22 | chr17 | TogoVar | |||||||
ATCAY_chr19_3875685_3933082 | 3914235 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp2 others(110): Show |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0009 others(110): Show |
113 | 159 | 0.7107 | 7 | c.965 others(22): Show |
ATCAY | ENSG00000167654.18 | transcript | ENST00000450849.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ATCAY_chr19_3875685_3933082 | 3917584 | C | CAAAAAAA | intron_variant | MODIFIER | HG01884.hp1 HG02280.hp2 HG02559.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0043 | a0001c0001t0001g0023 a0001c0001t0001g0159 a0001c0001t0001g0183 others(6): Show |
9 | 175 | 0.0514 | 7 | c.966 others(22): Show |
ATCAY | ENSG00000167654.18 | transcript | ENST00000450849.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ATE1_chr10_121735424_121933031 | 121819679 | C | CAAAAAAA | intron_variant | MODIFIER | HG00423.hp2 HG01175.hp2 HG02071.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0201 a0001c0001t0003g0062 a0001c0001t0004g0057 others(8): Show |
11 | 52 | 0.2115 | 7 | c.125 others(28): Show |
ATE1 | ENSG00000107669.19 | transcript | ENST00000224652.12 | protein_coding | 10/11 | chr10 | TogoVar | |||||||
ATF1_chr12_50759101_50826162 | 50823520 | T | TTTATATA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(139): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0017 others(131): Show |
142 | 284 | 0.5000 | 7 | c.*37 others(18): Show |
ATF1 | ENSG00000123268.9 | transcript | ENST00000262053.8 | protein_coding | 2359 | chr12 | TogoVar | |||||||
ATF2_chr2_175067259_175173203 | 175150650 | A | AATGAAAC | intron_variant | MODIFIER | HG01109.hp1 HG01175.hp1 HG01496.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0119 a0001c0001t0001g0120 others(21): Show |
24 | 222 | 0.1081 | 7 | c.-44 others(22): Show |
ATF2 | ENSG00000115966.18 | transcript | ENST00000264110.7 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
ATF4_chr22_39515562_39527683 | 39523993 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG02055.hp1 HG03710.hp2 NA18963.hp2 others(4): Show |
a0002a0003a0005 | a0002c0002a0003c0003a0005c0004 | a0002c0002t0002a0003c0003t0001a0005c0004t0001 | a0002c0002t0002g0001 a0003c0003t0001g0002 a0005c0004t0001g0003 |
7 | 178 | 0.0393 | 7 | c.*13 others(18): Show |
ATF4 | ENSG00000128272.18 | transcript | ENST00000674920.3 | protein_coding | 1311 | chr22 | TogoVar | |||||||
ATF6_chr1_161761320_161969070 | 161940559 | C | CTTTTTTT | intron_variant | MODIFIER | HG00323.hp2 HG01081.hp1 HG01099.hp2 others(11): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0021a0001c0002t0003a0001c0002t0009others(5): Show | a0001c0001t0021g0003 a0001c0002t0003g0207 a0001c0002t0009g0037 others(10): Show |
14 | 178 | 0.0787 | 7 | c.180 others(28): Show |
ATF6 | ENSG00000118217.7 | transcript | ENST00000367942.4 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATF6_chr1_161761320_161969070 | 161947810 | C | CTTTTTTT | intron_variant | MODIFIER | HG01243.hp1 HG02280.hp1 HG02451.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0011a0001c0001t0028others(1): Show | a0001c0001t0004g0187 a0001c0001t0011g0317 a0001c0001t0011g0318 others(4): Show |
7 | 24 | 0.2917 | 7 | c.180 others(28): Show |
ATF6 | ENSG00000118217.7 | transcript | ENST00000367942.4 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATF7IP2_chr16_10381061_10488638 | 10473894 | C | CTTTTTTT | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG01070.hp1 others(102): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0003a0001c0005others(9): Show | a0001c0002t0003a0001c0002t0005a0001c0002t0007others(14): Show | a0001c0002t0003g0004 a0001c0002t0003g0269 a0001c0002t0003g0270 others(101): Show |
105 | 312 | 0.3365 | 7 | c.148 others(22): Show |
ATF7IP2 | ENSG00000166669.14 | transcript | ENST00000562102.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ATF7_chr12_53507054_53631382 | 53628150 | A | AAATAAAT | upstream_gene_variant | MODIFIER | HG03017.hp1 HG04184.hp1 NA18968.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0029 | a0001c0001t0001g0249 a0001c0001t0001g0275 a0001c0001t0001g0306 others(1): Show |
4 | 247 | 0.0162 | 7 | c.-18 others(18): Show |
ATF7 | ENSG00000170653.19 | transcript | ENST00000420353.7 | protein_coding | 1769 | chr12 | TogoVar | |||||||
ATG101_chr12_52064978_52082495 | 52068990 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00597.hp2 HG00609.hp1 others(41): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011 | a0001c0001t0001g0003 a0001c0001t0002g0002 a0001c0001t0002g0022 others(5): Show |
44 | 142 | 0.3099 | 7 | c.-14 others(18): Show |
ATG101 | ENSG00000123395.15 | transcript | ENST00000336854.9 | protein_coding | 987 | chr12 | TogoVar | |||||||
ATG13_chr11_46612553_46679518 | 46619372 | C | CTTTTTTT | intron_variant | MODIFIER | HG02258.hp1 HG02622.hp2 HG02809.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009 | a0001c0001t0004g0003 a0001c0001t0004g0043 a0001c0001t0004g0045 others(1): Show |
5 | 113 | 0.0442 | 7 | c.-70 others(24): Show |
ATG13 | ENSG00000175224.17 | transcript | ENST00000683050.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ATG14_chr14_55361391_55416830 | 55380876 | T | TATATATA | intron_variant | MODIFIER | HG01261.hp1 HG02129.hp1 HG03130.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0015a0001c0002t0002others(2): Show | a0001c0001t0002g0102 a0001c0001t0015g0168 a0001c0002t0002g0001 others(11): Show |
17 | 213 | 0.0798 | 7 | c.878 others(22): Show |
ATG14 | ENSG00000126775.9 | transcript | ENST00000247178.6 | protein_coding | 6/9 | chr14 | TogoVar | |||||||
ATG2B_chr14_96274195_96368341 | 96308283 | T | TATATATA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00738.hp2 others(8): Show |
a0001a0002a0015others(1): Show | a0001c0024a0002c0001a0015c0037others(1): Show | a0001c0024t0006a0002c0001t0006a0002c0001t0040others(3): Show | a0001c0024t0006g0095 a0002c0001t0006g0156 a0002c0001t0006g0157 others(8): Show |
11 | 337 | 0.0326 | 7 | c.430 others(26): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 29/41 | chr14 | TogoVar | |||||||
ATG4A_chrX_108086778_108159671 | 108139777 | T | TGTCTCAC | intron_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG00733.hp1 others(66): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0019 others(54): Show |
69 | 247 | 0.2794 | 7 | c.814 others(24): Show |
ATG4A | ENSG00000101844.18 | transcript | ENST00000372232.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ATG4B_chr2_241632693_241678857 | 241642871 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG00609.hp1 others(27): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0004a0001c0002t0002a0001c0002t0022others(5): Show | a0001c0001t0004g0032 a0001c0001t0004g0196 a0001c0002t0002g0002 others(24): Show |
30 | 92 | 0.3261 | 7 | c.10+ others(22): Show |
ATG4B | ENSG00000168397.17 | transcript | ENST00000404914.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
ATG4D_chr19_10538904_10558418 | 10548003 | A | ATTTTTTT | intron_variant | MODIFIER | HG00738.hp2 HG01070.hp1 HG01123.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0141 a0001c0001t0001g0182 |
10 | 16 | 0.6250 | 7 | c.835 others(22): Show |
ATG4D | ENSG00000130734.10 | transcript | ENST00000309469.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ATG5_chr6_106179476_106330760 | 106250264 | A | AATTAGTT | intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 HG01891.hp1 others(3): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0002a0001c0004t0002 | a0001c0003t0002g0011 a0001c0003t0002g0012 a0001c0003t0002g0013 others(3): Show |
6 | 356 | 0.0169 | 7 | c.479 others(24): Show |
ATG5 | ENSG00000057663.16 | transcript | ENST00000369076.8 | protein_coding | 5/7 | chr6 | TogoVar | |||||||
ATG7_chr3_11267397_11562665 | 11271219 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00609.hp2 HG02109.hp1 HG02132.hp2 others(5): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 others(5): Show |
8 | 286 | 0.0280 | 7 | c.-15 others(18): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 1177 | chr3 | TogoVar | |||||||
ATG7_chr3_11267397_11562665 | 11378684 | C | CAAAAAAA | intron_variant | MODIFIER | HG00423.hp1 HG02132.hp2 HG02615.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0002g0012 a0001c0001t0002g0077 a0001c0001t0003g0068 others(8): Show |
11 | 243 | 0.0453 | 7 | c.187 others(26): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 18/20 | chr3 | TogoVar | |||||||
ATG7_chr3_11267397_11562665 | 11411619 | C | CAAAAAAA | intron_variant | MODIFIER | HG00735.hp2 HG01070.hp1 HG01167.hp1 others(26): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0040 others(26): Show |
29 | 59 | 0.4915 | 7 | c.195 others(28): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11422740 | C | CTTTTTTT | intron_variant | MODIFIER | HG02055.hp1 HG02071.hp1 HG02109.hp1 others(4): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0002a0001c0001t0004a0005c0008t0004 | a0001c0001t0002g0224 a0001c0001t0002g0228 a0001c0001t0002g0229 others(4): Show |
7 | 46 | 0.1522 | 7 | c.195 others(26): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11440674 | C | CTTTTTTT | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00544.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0031 a0001c0001t0001g0210 a0001c0001t0001g0219 others(26): Show |
29 | 48 | 0.6042 | 7 | c.207 others(28): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11442739 | C | CCAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG00738.hp1 others(20): Show |
a0001a0007 | a0001c0001a0001c0002a0007c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0003 a0001c0001t0001g0024 a0001c0001t0001g0035 others(20): Show |
23 | 71 | 0.3239 | 7 | c.207 others(28): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | chr3 | TogoVar | |||||||
ATG7_chr3_11267397_11562665 | 11471745 | C | CTTTTTTT | intron_variant | MODIFIER | HG00544.hp1 HG02027.hp2 HG02071.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0029 others(5): Show |
8 | 51 | 0.1569 | 7 | c.207 others(28): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11540473 | T | TATAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(247): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(47): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0015 others(247): Show |
250 | 290 | 0.8621 | 7 | c.208 others(28): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |