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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASXL1_chr20_32353331_32444319 | 32411536 | CTTTTTTT | C | intron_variant | MODIFIER | HG01261.hp2 HG01358.hp2 HG02300.hp1 others(9): Show |
a0001a0004a0009 | a0001c0001a0001c0022a0004c0006others(2): Show | a0001c0001t0017a0001c0022t0001a0004c0006t0006others(3): Show | a0001c0001t0017g0012a0001c0022t0001g0011a0004c0006t0006g0001others(9): Show | 12 | 282 | 0.0426 | -7 | c.253 others(26): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ASXL1_chr20_32353331_32444319 | 32418809 | CTTTTTTT | C | intron_variant | MODIFIER | HG02300.hp1 HG02451.hp2 HG02976.hp1 others(3): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0017a0004c0006t0006 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0127others(3): Show | 6 | 282 | 0.0213 | -7 | c.253 others(24): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ASXL2_chr2_25728753_25883487 | 25826248 | AGTGGGCT | A | intron_variant | MODIFIER | HG02109.hp1 HG02602.hp2 HG02647.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0019 | a0001c0001t0005g0213a0001c0001t0005g0214a0001c0001t0005g0215others(5): Show | 8 | 222 | 0.0360 | -7 | c.143 others(24): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 3/12 | chr2 | TogoVar | ||||||
ASXL3_chr18_33573219_33756195 | 33610801 | GATATTTA | G | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00558.hp2 others(32): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0005a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(18): Show | a0001c0001t0001g0041a0001c0001t0001g0157a0001c0001t0002g0159others(32): Show | 35 | 220 | 0.1591 | -7 | c.137 others(24): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ASXL3_chr18_33573219_33756195 | 33713236 | TTGTTTTG | T | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01943.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(2): Show | a0001c0001t0001g0104a0001c0001t0002g0038a0001c0001t0002g0051others(4): Show | 7 | 220 | 0.0318 | -7 | c.880 others(26): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ASZ1_chr7_117358222_117432493 | 117371665 | CACTTATA | C | intron_variant | MODIFIER | HG01243.hp2 HG02257.hp1 HG02615.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0107a0001c0001t0003g0111a0001c0001t0003g0117others(1): Show | 4 | 306 | 0.0131 | -7 | c.105 others(26): Show |
ASZ1 | ENSG00000154438.8 | transcript | ENST00000284629.7 | protein_coding | 10/12 | chr7 | TogoVar | ||||||
ATAD2B_chr2_23743664_23932123 | 23818362 | CAAAAAAA | C | intron_variant | MODIFIER | HG00738.hp1 HG02145.hp1 HG02300.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0014 | a0001c0001t0001g0209a0001c0001t0002g0033a0001c0001t0002g0076others(2): Show | 5 | 246 | 0.0203 | -7 | c.226 others(26): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 17/27 | chr2 | TogoVar | ||||||
ATAD5_chr17_30826966_30900869 | 30850860 | TATATATA | T | intron_variant | MODIFIER | HG00597.hp1 HG01070.hp2 HG01255.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129a0001c0001t0001g0153a0001c0001t0001g0156 | 3 | 286 | 0.0105 | -7 | c.245 others(26): Show |
ATAD5 | ENSG00000176208.9 | transcript | ENST00000321990.5 | protein_coding | 6/22 | chr17 | TogoVar | ||||||
ATAD5_chr17_30826966_30900869 | 30885623 | CTTTTTTT | C | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02258.hp1 others(16): Show |
a0001a0005a0011 | a0001c0001a0005c0005a0011c0013 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(3): Show | a0001c0001t0001g0138a0001c0001t0003g0234a0001c0001t0003g0252others(16): Show | 19 | 286 | 0.0664 | -7 | c.407 others(26): Show |
ATAD5 | ENSG00000176208.9 | transcript | ENST00000321990.5 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ATCAY_chr19_3875685_3933082 | 3879506 | AAAGAAAG | A | upstream_gene_variant | MODIFIER | HG00642.hp1 HG01099.hp1 HG01255.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0181a0001c0001t0001g0195a0001c0001t0001g0267others(15): Show | 18 | 384 | 0.0469 | -7 | c.-15 others(18): Show |
ATCAY | ENSG00000167654.18 | transcript | ENST00000450849.7 | protein_coding | 1178 | chr19 | TogoVar | ||||||
ATCAY_chr19_3875685_3933082 | 3885953 | GCCTGGTT | G | intron_variant | MODIFIER | HG00438.hp1 HG00609.hp1 HG01081.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0166a0001c0001t0001g0167a0001c0001t0001g0168others(11): Show | 14 | 384 | 0.0365 | -7 | c.77+ others(20): Show |
ATCAY | ENSG00000167654.18 | transcript | ENST00000450849.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ATE1_chr10_121735424_121933031 | 121738137 | ATTTTATT | A | downstream_gene_variant | MODIFIER | HG02040.hp2 HG02071.hp1 HG02109.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0001t0014a0001c0002t0010 | a0001c0001t0010g0043a0001c0001t0010g0157a0001c0001t0014g0085others(2): Show | 5 | 320 | 0.0156 | -7 | c.*55 others(18): Show |
ATE1 | ENSG00000107669.19 | transcript | ENST00000224652.12 | protein_coding | 2286 | chr10 | TogoVar | ||||||
ATE1_chr10_121735424_121933031 | 121779627 | TAGAAGAA | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(264): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0009others(264): Show | 267 | 320 | 0.8344 | -7 | c.137 others(28): Show |
ATE1 | ENSG00000107669.19 | transcript | ENST00000224652.12 | protein_coding | 11/11 | chr10 | TogoVar | ||||||
ATE1_chr10_121735424_121933031 | 121794532 | GGAGGGTA | G | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp1 others(201): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0009others(201): Show | 204 | 320 | 0.6375 | -7 | c.125 others(26): Show |
ATE1 | ENSG00000107669.19 | transcript | ENST00000224652.12 | protein_coding | 10/11 | chr10 | TogoVar | ||||||
ATF1_chr12_50759101_50826162 | 50823617 | TTATATTA | T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00438.hp1 others(114): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0010others(2): Show | a0001c0001t0001g0014a0001c0001t0001g0259a0001c0002t0002g0002others(111): Show | 117 | 382 | 0.3063 | -7 | c.*38 others(18): Show |
ATF1 | ENSG00000123268.9 | transcript | ENST00000262053.8 | protein_coding | 2456 | chr12 | TogoVar | ||||||
ATF2_chr2_175067259_175173203 | 175140999 | GAAAAAAA | G | intron_variant | MODIFIER | HG00438.hp2 HG01358.hp2 HG03195.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0009a0001c0001t0001g0013a0001c0001t0002g0164others(6): Show | 9 | 224 | 0.0402 | -7 | c.-43 others(24): Show |
ATF2 | ENSG00000115966.18 | transcript | ENST00000264110.7 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
ATF5_chr19_49924205_49938935 | 49934258 | AAAAGGGG | A | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00639.hp2 HG00735.hp1 others(24): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0013others(6): Show | a0001c0001t0001g0004a0001c0001t0001g0024a0001c0001t0001g0040others(8): Show | 27 | 444 | 0.0608 | -7 | c.*11 others(18): Show |
ATF5 | ENSG00000169136.13 | transcript | ENST00000423777.7 | protein_coding | 324 | chr19 | TogoVar | ||||||
ATF6_chr1_161761320_161969070 | 161812371 | CTTTTTTT | C | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG01123.hp2 others(58): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0004a0001c0001t0015a0001c0001t0021others(14): Show | a0001c0001t0004g0163a0001c0001t0004g0164a0001c0001t0004g0170others(58): Show | 61 | 332 | 0.1837 | -7 | c.910 others(24): Show |
ATF6 | ENSG00000118217.7 | transcript | ENST00000367942.4 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATF6_chr1_161761320_161969070 | 161894521 | CTTTTTTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00438.hp1 others(62): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0003a0005c0011others(1): Show | a0001c0001t0002a0002c0003t0002a0002c0003t0004others(12): Show | a0001c0001t0002g0015a0002c0003t0002g0238a0002c0003t0002g0241others(62): Show | 65 | 332 | 0.1958 | -7 | c.172 others(28): Show |
ATF6 | ENSG00000118217.7 | transcript | ENST00000367942.4 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATF6_chr1_161761320_161969070 | 161947810 | CTTTTTTT | C | intron_variant | MODIFIER | HG00558.hp2 HG02129.hp1 HG02132.hp1 others(9): Show |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0001a0001c0002t0017a0003c0004t0001others(2): Show | a0001c0002t0001g0221a0001c0002t0017g0227a0003c0004t0001g0040others(9): Show | 12 | 332 | 0.0361 | -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 | 10393315 | CAAAAAAA | C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp2 others(25): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0003a0002c0001others(5): Show | a0001c0002t0005a0001c0003t0002a0002c0001t0001others(6): Show | a0001c0002t0005g0195a0001c0003t0002g0038a0002c0001t0001g0086others(25): Show | 28 | 376 | 0.0745 | -7 | c.-24 others(26): Show |
ATF7IP2 | ENSG00000166669.14 | transcript | ENST00000562102.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ATF7IP_chr12_14360682_14507930 | 14405403 | CTTTTTTT | C | intron_variant | MODIFIER | HG00609.hp2 HG01934.hp1 HG02132.hp2 others(9): Show |
a0001a0003a0005 | a0001c0001a0003c0005a0005c0007 | a0001c0001t0003a0001c0001t0040a0003c0005t0041others(1): Show | a0001c0001t0003g0074a0001c0001t0003g0079a0001c0001t0003g0128others(8): Show | 12 | 346 | 0.0347 | -7 | c.-7- others(24): Show |
ATF7IP | ENSG00000171681.13 | transcript | ENST00000261168.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATF7IP_chr12_14360682_14507930 | 14416270 | TTATTTAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00438.hp1 others(102): Show |
a0002a0011a0012others(1): Show | a0002c0002a0002c0004a0002c0006others(3): Show | a0002c0002t0001a0002c0002t0009a0002c0002t0026others(7): Show | a0002c0002t0001g0004a0002c0002t0001g0205a0002c0002t0001g0206others(102): Show | 105 | 346 | 0.3035 | -7 | c.-7- others(22): Show |
ATF7IP | ENSG00000171681.13 | transcript | ENST00000261168.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATF7IP_chr12_14360682_14507930 | 14505106 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00438.hp1 others(78): Show |
a0002a0011a0012others(1): Show | a0002c0002a0002c0004a0011c0019others(2): Show | a0002c0002t0001a0002c0002t0026a0002c0002t0037others(4): Show | a0002c0002t0001g0004a0002c0002t0001g0205a0002c0002t0001g0206others(78): Show | 81 | 346 | 0.2341 | -7 | c.*70 others(18): Show |
ATF7IP | ENSG00000171681.13 | transcript | ENST00000261168.9 | protein_coding | 2177 | chr12 | TogoVar | ||||||
ATG101_chr12_52064978_52082495 | 52068990 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG01243.hp1 HG01258.hp1 HG01517.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0006a0002c0002t0004 | a0001c0001t0002g0002a0001c0001t0006g0010a0001c0001t0006g0031others(2): Show | 9 | 394 | 0.0228 | -7 | c.-14 others(18): Show |
ATG101 | ENSG00000123395.15 | transcript | ENST00000336854.9 | protein_coding | 987 | chr12 | TogoVar | ||||||
ATG12_chr5_115823200_115846565 | 115845836 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG02280.hp1 HG02486.hp2 HG03139.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0169a0001c0001t0002g0149a0001c0001t0006g0032others(4): Show | 7 | 402 | 0.0174 | -7 | c.-42 others(18): Show |
ATG12 | ENSG00000145782.13 | transcript | ENST00000509910.2 | protein_coding | 4272 | chr5 | TogoVar | ||||||
ATG14_chr14_55361391_55416830 | 55364727 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00609.hp2 others(96): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0023others(11): Show | a0001c0001t0002g0003a0001c0001t0002g0029a0001c0001t0002g0033others(90): Show | 99 | 366 | 0.2705 | -7 | c.*48 others(18): Show |
ATG14 | ENSG00000126775.9 | transcript | ENST00000247178.6 | protein_coding | 1663 | chr14 | TogoVar | ||||||
ATG14_chr14_55361391_55416830 | 55389891 | GATAAAGT | G | intron_variant | MODIFIER | HG02451.hp2 HG03130.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0015 | a0001c0001t0003g0208a0001c0001t0015g0175a0001c0001t0015g0176 | 3 | 366 | 0.0082 | -7 | c.409 others(24): Show |
ATG14 | ENSG00000126775.9 | transcript | ENST00000247178.6 | protein_coding | 4/9 | chr14 | TogoVar | ||||||
ATG14_chr14_55361391_55416830 | 55402925 | AAATATAT | A | intron_variant | MODIFIER | HG01496.hp2 HG02280.hp2 HG02622.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0113a0001c0001t0003g0216a0001c0001t0003g0331others(3): Show | 6 | 366 | 0.0164 | -7 | c.222 others(24): Show |
ATG14 | ENSG00000126775.9 | transcript | ENST00000247178.6 | protein_coding | 1/9 | chr14 | TogoVar | ||||||
ATG16L1_chr2_233246673_233300669 | 233258011 | AAAAAAAT | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(14): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0003a0001c0007t0003 | a0001c0001t0003g0011a0001c0001t0003g0016a0001c0001t0003g0091others(11): Show | 17 | 354 | 0.0480 | -7 | c.209 others(24): Show |
ATG16L1 | ENSG00000085978.22 | transcript | ENST00000392017.9 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATG16L1_chr2_233246673_233300669 | 233258017 | ATATCTAT | A | intron_variant | MODIFIER | HG02258.hp1 HG03669.hp2 NA19010.hp2 |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0007a0002c0002t0005a0002c0004t0002 | a0001c0001t0007g0156a0002c0002t0005g0211a0002c0004t0002g0204 | 3 | 354 | 0.0085 | -7 | c.209 others(24): Show |
ATG16L1 | ENSG00000085978.22 | transcript | ENST00000392017.9 | protein_coding | 2/17 | chr2 | TogoVar | ||||||
ATG16L1_chr2_233246673_233300669 | 233261670 | TGAGAGGA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(117): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0003a0002c0002t0002a0002c0002t0005others(10): Show | a0001c0001t0003g0099a0002c0002t0002g0023a0002c0002t0002g0024others(103): Show | 120 | 354 | 0.3390 | -7 | c.210 others(24): Show |
ATG16L1 | ENSG00000085978.22 | transcript | ENST00000392017.9 | protein_coding | 2/17 | chr2 | TogoVar | ||||||
ATG16L2_chr11_72809411_72834635 | 72822579 | TCTGCCTC | T | intron_variant | MODIFIER | HG00733.hp2 HG01071.hp1 HG01167.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0041 | 9 | 440 | 0.0205 | -7 | c.710 others(20): Show |
ATG16L2 | ENSG00000168010.11 | transcript | ENST00000321297.10 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ATG2A_chr11_64889546_64922209 | 64904819 | TCTATCTA | T | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG02109.hp1 others(6): Show |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0011a0001c0004t0002g0138a0001c0004t0002g0140others(2): Show | 9 | 372 | 0.0242 | -7 | c.346 others(24): Show |
ATG2A | ENSG00000110046.14 | transcript | ENST00000377264.8 | protein_coding | 24/40 | chr11 | TogoVar | ||||||
ATG4B_chr2_241632693_241678857 | 241654419 | TAAAAAAA | T | intron_variant | MODIFIER | HG02056.hp2 HG02559.hp2 HG02622.hp1 others(15): Show |
a0001a0003 | a0001c0005a0003c0004 | a0001c0005t0005a0003c0004t0007a0003c0004t0010others(2): Show | a0001c0005t0005g0198a0001c0005t0005g0199a0003c0004t0007g0026others(13): Show | 18 | 410 | 0.0439 | -7 | c.284 others(22): Show |
ATG4B | ENSG00000168397.17 | transcript | ENST00000404914.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATG4D_chr19_10538904_10558418 | 10548003 | ATTTTTTT | A | intron_variant | MODIFIER | HG02486.hp1 HG02735.hp2 HG02896.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085a0001c0001t0001g0086a0001c0001t0001g0093others(5): Show | 8 | 406 | 0.0197 | -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 | 106198768 | CCTGTCTG | C | intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 HG01891.hp1 others(3): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0002a0001c0004t0002 | a0001c0003t0002g0011a0001c0003t0002g0012a0001c0003t0002g0013others(3): Show | 6 | 358 | 0.0168 | -7 | c.691 others(24): Show |
ATG5 | ENSG00000057663.16 | transcript | ENST00000369076.8 | protein_coding | 7/7 | chr6 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11334953 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00423.hp1 others(116): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0015a0001c0001t0001g0020a0001c0001t0001g0021others(116): Show | 119 | 292 | 0.4075 | -7 | c.889 others(24): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATG7_chr3_11267397_11562665 | 11489053 | AGCTATTG | A | intron_variant | MODIFIER | HG01884.hp1 HG02723.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0264a0001c0001t0006g0269a0001c0001t0006g0272 | 3 | 292 | 0.0103 | -7 | c.207 others(28): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | chr3 | TogoVar | ||||||
ATL2_chr2_38288954_38382273 | 38352133 | CAAAAAAA | C | intron_variant | MODIFIER | HG00423.hp1 HG02132.hp2 HG02145.hp1 others(15): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004others(1): Show | a0001c0001t0006a0001c0001t0012a0001c0001t0037others(4): Show | a0001c0001t0006g0135a0001c0001t0006g0137a0001c0001t0006g0138others(15): Show | 18 | 236 | 0.0763 | -7 | c.119 others(24): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
ATL2_chr2_38288954_38382273 | 38360128 | CAAAAAAA | C | intron_variant | MODIFIER | HG01071.hp2 HG01109.hp1 HG01243.hp1 others(24): Show |
a0001a0002a0003others(1): Show | a0001c0003a0002c0002a0003c0004others(2): Show | a0001c0003t0003a0001c0003t0008a0001c0003t0015others(9): Show | a0001c0003t0003g0008a0001c0003t0003g0009a0001c0003t0003g0011others(24): Show | 27 | 236 | 0.1144 | -7 | c.119 others(26): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
ATL2_chr2_38288954_38382273 | 38370165 | AAAAAAAG | A | intron_variant | MODIFIER | HG01109.hp1 HG02145.hp2 HG02647.hp1 others(6): Show |
a0001a0004 | a0001c0003a0004c0007a0004c0008 | a0001c0003t0003a0001c0003t0008a0001c0003t0024others(2): Show | a0001c0003t0003g0022a0001c0003t0003g0023a0001c0003t0008g0012others(6): Show | 9 | 236 | 0.0381 | -7 | c.118 others(24): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
ATL2_chr2_38288954_38382273 | 38370448 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(27): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0094a0001c0001t0002g0052a0001c0001t0002g0083others(27): Show | 30 | 236 | 0.1271 | -7 | c.118 others(24): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
ATL3_chr11_63619087_63676376 | 63628319 | CAAAAAAA | C | 3_prime_UTR_variant | MODIFIER | HG02109.hp1 HG02615.hp2 HG02896.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0009a0001c0001t0024a0003c0005t0009 | a0001c0001t0009g0186a0001c0001t0009g0207a0001c0001t0009g0215others(3): Show | 6 | 242 | 0.0248 | -7 | c.*99 others(16): Show |
ATL3 | ENSG00000184743.13 | transcript | ENST00000398868.8 | protein_coding | 13/13 | 993 | chr11 | TogoVar | |||||
ATM_chr11_108218067_108374102 | 108273331 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(143): Show |
a0001a0003a0004others(8): Show | a0001c0001a0001c0020a0001c0024others(11): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(26): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(143): Show | 146 | 304 | 0.4803 | -7 | c.328 others(24): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 22/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ATOX1_chr5_151737822_151763631 | 151752641 | ACACAAGG | A | intron_variant | MODIFIER | HG02109.hp2 HG02280.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030a0001c0001t0001g0075 | 3 | 378 | 0.0079 | -7 | c.7-8 others(18): Show |
ATOX1 | ENSG00000177556.12 | transcript | ENST00000313115.11 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
ATOX1_chr5_151737822_151763631 | 151763522 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG00609.hp2 HG01069.hp2 HG01071.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0015a0001c0001t0001g0017others(8): Show | 19 | 378 | 0.0503 | -7 | c.-49 others(18): Show |
ATOX1 | ENSG00000177556.12 | transcript | ENST00000313115.11 | protein_coding | 4892 | chr5 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25847609 | CTTTTTTT | C | intron_variant | MODIFIER | HG00639.hp2 HG01243.hp1 HG02109.hp2 others(18): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0002a0003c0003others(9): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(12): Show | a0001c0001t0001g0038a0001c0001t0001g0039a0001c0001t0001g0070others(18): Show | 21 | 300 | 0.0700 | -7 | c.449 others(26): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 1/20 | chr15 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160591016 | TTCTCTGC | T | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00558.hp1 others(12): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0002c0004others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0029others(8): Show | a0001c0001t0003g0095a0001c0001t0004g0125a0001c0001t0029g0139others(12): Show | 15 | 236 | 0.0636 | -7 | c.364 others(22): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 23/25 | chr5 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160652796 | AATATATT | A | intron_variant | MODIFIER | HG01884.hp2 HG02717.hp2 NA18906.hp2 others(1): Show |
a0001 | a0001c0008a0001c0029 | a0001c0008t0019a0001c0008t0037a0001c0029t0047 | a0001c0008t0019g0030a0001c0008t0019g0087a0001c0008t0037g0023others(1): Show | 4 | 236 | 0.0170 | -7 | c.676 others(24): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar |