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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATAD3C_chr1_1444689_1475163 | 1456217 | T | C | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(344): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0003a0001c0004others(44): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(197): Show | a0001c0001t0001g0003a0001c0001t0001g0015a0001c0001t0001g0016others(328): Show | 347 | 410 | 0.8463 | 0 | c.565 others(5): Show |
ATAD3C | ENSG00000215915.10 | transcript | ENST00000378785.7 | protein_coding | 6/11 | chr1 | TogoVar | ||||||
ATAD3C_chr1_1444689_1475163 | 1457125 | A | G | splice_region_variant others(1): Show |
LOW | NA18973.hp2 | a0001 | a0001c0004 | a0001c0004t0105 | a0001c0004t0105g0060 | 1 | 410 | 0.0024 | 0 | c.690 others(5): Show |
ATAD3C | ENSG00000215915.10 | transcript | ENST00000378785.7 | protein_coding | 7/11 | chr1 | TogoVar | ||||||
ATAD3C_chr1_1444689_1475163 | 1457180 | T | C | splice_region_variant others(1): Show |
LOW | NA19030.hp1 | a0001 | a0001c0033 | a0001c0033t0131 | a0001c0033t0131g0139 | 1 | 410 | 0.0024 | 0 | c.741 others(3): Show |
p.Thr others(6): Show |
ATAD3C | ENSG00000215915.10 | transcript | ENST00000378785.7 | protein_coding | 8/12 | 1736/3864 | 741/1236 | 247/411 | chr1 | TogoVar | ||
ATAD5_chr17_30826966_30900869 | 30879415 | G | A | splice_region_variant others(1): Show |
LOW | HG00544.hp2 HG00639.hp1 HG00642.hp2 others(61): Show |
a0002 | a0002c0002a0002c0012a0002c0019 | a0002c0002t0002a0002c0002t0009a0002c0002t0019others(2): Show | a0002c0002t0002g0001a0002c0002t0002g0002a0002c0002t0002g0003others(59): Show | 64 | 286 | 0.2238 | 0 | c.401 others(6): Show |
ATAD5 | ENSG00000176208.9 | transcript | ENST00000321990.5 | protein_coding | 17/22 | chr17 | TogoVar | ||||||
ATAD5_chr17_30826966_30900869 | 30894566 | A | G | missense_variant others(1): Show |
MODERATE | HG02622.hp1 | a0009 | a0009c0016 | a0009c0016t0001 | a0009c0016t0001g0125 | 1 | 286 | 0.0035 | 0 | c.530 others(4): Show |
p.Asn others(7): Show |
ATAD5 | ENSG00000176208.9 | transcript | ENST00000321990.5 | protein_coding | 22/23 | 5682/6873 | 5300/5535 | 1767/1844 | chr17 | TogoVar | ||
ATAT1_chr6_30621874_30651821 | 30642254 | G | A | splice_region_variant others(1): Show |
LOW | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 405 | 0.0025 | 0 | c.724 others(5): Show |
ATAT1 | ENSG00000137343.18 | transcript | ENST00000376485.9 | protein_coding | 9/12 | chr6 | TogoVar | ||||||
ATCAY_chr19_3875685_3933082 | 3910895 | A | G | splice_region_variant others(1): Show |
LOW | HG02622.hp1 HG02809.hp2 HG03225.hp1 |
a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0290a0001c0002t0009g0333a0001c0002t0009g0334 | 3 | 384 | 0.0078 | 0 | c.866 others(5): Show |
ATCAY | ENSG00000167654.18 | transcript | ENST00000450849.7 | protein_coding | 8/12 | chr19 | TogoVar | ||||||
ATCAY_chr19_3875685_3933082 | 3910896 | C | T | splice_region_variant others(1): Show |
LOW | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0223 | 1 | 384 | 0.0026 | 0 | c.866 others(5): Show |
ATCAY | ENSG00000167654.18 | transcript | ENST00000450849.7 | protein_coding | 8/12 | chr19 | TogoVar | ||||||
ATE1_chr10_121735424_121933031 | 121841075 | A | G | splice_region_variant others(1): Show |
LOW | HG00609.hp2 HG00621.hp2 HG00639.hp1 others(40): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0102a0001c0001t0001g0112a0001c0001t0001g0117others(40): Show | 43 | 320 | 0.1344 | 0 | c.115 others(6): Show |
ATE1 | ENSG00000107669.19 | transcript | ENST00000224652.12 | protein_coding | 9/11 | chr10 | TogoVar | ||||||
ATE1_chr10_121735424_121933031 | 121841079 | T | C | splice_region_variant others(1): Show |
LOW | HG03834.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0076 | 1 | 320 | 0.0031 | 0 | c.115 others(6): Show |
ATE1 | ENSG00000107669.19 | transcript | ENST00000224652.12 | protein_coding | 9/11 | chr10 | TogoVar | ||||||
ATE1_chr10_121735424_121933031 | 121870042 | C | T | splice_region_variant others(1): Show |
LOW | NA19030.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0139 | 1 | 320 | 0.0031 | 0 | c.943 others(5): Show |
ATE1 | ENSG00000107669.19 | transcript | ENST00000224652.12 | protein_coding | 7/11 | chr10 | TogoVar | ||||||
ATF1_chr12_50759101_50826162 | 50809443 | GT | G | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(287): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0013a0001c0001t0001g0014others(277): Show | 290 | 382 | 0.7592 | -1 | c.195 others(6): Show |
ATF1 | ENSG00000123268.9 | transcript | ENST00000262053.8 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATF1_chr12_50759101_50826162 | 50809588 | C | T | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00140.hp2 HG00438.hp1 others(139): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0006others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(10): Show | a0001c0002t0001g0299a0001c0002t0001g0300a0001c0002t0001g0325others(136): Show | 142 | 382 | 0.3717 | 0 | c.327 others(3): Show |
p.Tyr others(6): Show |
ATF1 | ENSG00000123268.9 | transcript | ENST00000262053.8 | protein_coding | 4/7 | 540/2412 | 327/816 | 109/271 | chr12 | TogoVar | ||
ATF1_chr12_50759101_50826162 | 50809593 | T | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00140.hp2 HG00438.hp1 others(112): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0002a0001c0002t0010a0001c0002t0011others(1): Show | a0001c0002t0002g0012a0001c0002t0002g0018a0001c0002t0002g0032others(111): Show | 115 | 382 | 0.3011 | 0 | c.328 others(5): Show |
ATF1 | ENSG00000123268.9 | transcript | ENST00000262053.8 | protein_coding | 4/6 | chr12 | TogoVar | ||||||
ATF3_chr1_212603761_212625775 | 212615259 | G | A | missense_variant others(1): Show |
MODERATE | HG02572.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0008 | 1 | 450 | 0.0022 | 0 | c.238 others(3): Show |
p.Glu others(5): Show |
ATF3 | ENSG00000162772.18 | transcript | ENST00000341491.9 | protein_coding | 2/4 | 412/1940 | 238/546 | 80/181 | chr1 | TogoVar | ||
ATF5_chr19_49924205_49938935 | 49930734 | C | A | splice_region_variant | LOW | NA19005.hp1 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0001 | 1 | 444 | 0.0023 | 0 | c.-11 others(4): Show |
ATF5 | ENSG00000169136.13 | transcript | ENST00000423777.7 | protein_coding | 2/3 | chr19 | TogoVar | ||||||
ATF6B_chr6_32110264_32133246 | 32116482 | T | C | missense_variant others(1): Show |
MODERATE | HG03704.hp2 | a0009 | a0009c0010 | a0009c0010t0002 | a0009c0010t0002g0126 | 1 | 439 | 0.0023 | 0 | c.188 others(4): Show |
p.Asn others(6): Show |
ATF6B | ENSG00000213676.13 | transcript | ENST00000375203.8 | protein_coding | 17/18 | 1919/2626 | 1880/2112 | 627/703 | chr6 | TogoVar | ||
ATF6B_chr6_32110264_32133246 | 32117580 | C | T | splice_region_variant others(1): Show |
LOW | HG02280.hp1 HG02615.hp1 HG03130.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032a0001c0001t0002g0139a0001c0001t0002g0146 | 5 | 439 | 0.0114 | 0 | c.153 others(6): Show |
ATF6B | ENSG00000213676.13 | transcript | ENST00000375203.8 | protein_coding | 13/17 | chr6 | TogoVar | ||||||
ATF6B_chr6_32110264_32133246 | 32121258 | C | T | splice_region_variant others(1): Show |
LOW | NA18977.hp1 NA19004.hp2 NA19055.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040a0001c0001t0002g0104 | 3 | 439 | 0.0068 | 0 | c.564 others(5): Show |
ATF6B | ENSG00000213676.13 | transcript | ENST00000375203.8 | protein_coding | 6/17 | chr6 | TogoVar | ||||||
ATF6_chr1_161761320_161969070 | 161802047 | C | T | splice_region_variant others(1): Show |
LOW | NA18951.hp2 | a0002 | a0002c0003 | a0002c0003t0052 | a0002c0003t0052g0260 | 1 | 332 | 0.0030 | 0 | c.689 others(5): Show |
ATF6 | ENSG00000118217.7 | transcript | ENST00000367942.4 | protein_coding | 6/15 | chr1 | TogoVar | ||||||
ATF6_chr1_161761320_161969070 | 161853221 | T | A | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(117): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004others(2): Show | a0001c0001t0002a0001c0001t0013a0001c0001t0014others(23): Show | a0001c0001t0002g0015a0001c0001t0002g0032a0001c0001t0013g0031others(116): Show | 120 | 332 | 0.3615 | 0 | c.143 others(6): Show |
ATF6 | ENSG00000118217.7 | transcript | ENST00000367942.4 | protein_coding | 11/15 | chr1 | TogoVar | ||||||
ATF6_chr1_161761320_161969070 | 161863320 | C | A | splice_region_variant others(1): Show |
LOW | HG02165.hp2 NA18953.hp1 NA19057.hp1 others(1): Show |
a0003 | a0003c0004 | a0003c0004t0003a0003c0004t0030 | a0003c0004t0003g0071a0003c0004t0003g0074a0003c0004t0003g0102others(1): Show | 4 | 332 | 0.0121 | 0 | c.171 others(6): Show |
ATF6 | ENSG00000118217.7 | transcript | ENST00000367942.4 | protein_coding | 14/15 | chr1 | TogoVar | ||||||
ATF7IP2_chr16_10381061_10488638 | 10433526 | C | A | missense_variant others(1): Show |
MODERATE | NA19240.hp1 | a0007 | a0007c0018 | a0007c0018t0010 | a0007c0018t0010g0035 | 1 | 376 | 0.0027 | 0 | c.837 others(3): Show |
p.Ser others(6): Show |
ATF7IP2 | ENSG00000166669.14 | transcript | ENST00000562102.6 | protein_coding | 6/14 | 1140/3741 | 837/2049 | 279/682 | chr16 | TogoVar | ||
ATF7IP2_chr16_10381061_10488638 | 10480972 | A | T | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(148): Show |
a0001a0002a0008 | a0001c0007a0001c0016a0002c0001others(3): Show | a0001c0007t0011a0001c0016t0015a0002c0001t0001others(8): Show | a0001c0007t0011g0352a0001c0007t0011g0353a0001c0007t0011g0354others(146): Show | 151 | 376 | 0.4016 | 0 | c.163 others(6): Show |
ATF7IP2 | ENSG00000166669.14 | transcript | ENST00000562102.6 | protein_coding | 13/13 | chr16 | TogoVar | ||||||
ATF7IP_chr12_14360682_14507930 | 14446970 | C | CT | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(309): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0020a0002c0002others(17): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(48): Show | a0001c0001t0002g0013a0001c0001t0002g0014a0001c0001t0002g0025others(306): Show | 312 | 346 | 0.9017 | 1 | c.193 others(7): Show |
ATF7IP | ENSG00000171681.13 | transcript | ENST00000261168.9 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATF7IP_chr12_14360682_14507930 | 14446970 | C | CTT | splice_region_variant others(1): Show |
LOW | HG00639.hp1 HG01243.hp1 HG01261.hp2 others(26): Show |
a0001a0003a0005others(1): Show | a0001c0001a0003c0003a0005c0007others(1): Show | a0001c0001t0002a0001c0001t0029a0003c0003t0013others(2): Show | a0001c0001t0002g0007a0001c0001t0002g0010a0001c0001t0002g0015others(26): Show | 29 | 346 | 0.0838 | 2 | c.193 others(15): Show |
ATF7IP | ENSG00000171681.13 | transcript | ENST00000261168.9 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATF7IP_chr12_14360682_14507930 | 14481185 | A | G | missense_variant others(1): Show |
MODERATE | HG03239.hp2 | a0014 | a0014c0015 | a0014c0015t0003 | a0014c0015t0003g0094 | 1 | 346 | 0.0029 | 0 | c.328 others(4): Show |
p.Ser others(7): Show |
ATF7IP | ENSG00000171681.13 | transcript | ENST00000261168.9 | protein_coding | 13/15 | 3433/8823 | 3280/3813 | 1094/1270 | chr12 | TogoVar | ||
ATF7_chr12_53507054_53631382 | 53543323 | T | C | splice_region_variant others(1): Show |
LOW | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0306 | 1 | 330 | 0.0030 | 0 | c.264 others(5): Show |
ATF7 | ENSG00000170653.19 | transcript | ENST00000420353.7 | protein_coding | 4/11 | chr12 | TogoVar | ||||||
ATG101_chr12_52064978_52082495 | 52073570 | T | G | splice_region_variant others(1): Show |
LOW | NA18955.hp2 NA19005.hp1 NA19068.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 3 | 394 | 0.0076 | 0 | c.-76 others(5): Show |
ATG101 | ENSG00000123395.15 | transcript | ENST00000336854.9 | protein_coding | 2/3 | chr12 | TogoVar | ||||||
ATG16L2_chr11_72809411_72834635 | 72821663 | C | T | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(435): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(141): Show | 438 | 440 | 0.9955 | 0 | c.319 others(5): Show |
ATG16L2 | ENSG00000168010.11 | transcript | ENST00000321297.10 | protein_coding | 3/17 | chr11 | TogoVar | ||||||
ATG16L2_chr11_72809411_72834635 | 72822038 | C | T | splice_region_variant others(1): Show |
LOW | HG02165.hp1 NA18969.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060a0001c0001t0001g0061 | 2 | 440 | 0.0046 | 0 | c.393 others(5): Show |
ATG16L2 | ENSG00000168010.11 | transcript | ENST00000321297.10 | protein_coding | 4/17 | chr11 | TogoVar | ||||||
ATG16L2_chr11_72809411_72834635 | 72824840 | C | T | splice_region_variant others(1): Show |
LOW | HG00544.hp1 HG00558.hp1 HG02132.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0026 | 3 | 440 | 0.0068 | 0 | c.994 others(3): Show |
p.Leu others(6): Show |
ATG16L2 | ENSG00000168010.11 | transcript | ENST00000321297.10 | protein_coding | 9/18 | 1029/2140 | 994/1860 | 332/619 | chr11 | TogoVar | ||
ATG16L2_chr11_72809411_72834635 | 72828784 | C | T | splice_region_variant others(1): Show |
LOW | HG01884.hp1 HG02055.hp1 HG03098.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020a0001c0001t0002g0045 | 4 | 440 | 0.0091 | 0 | c.167 others(6): Show |
ATG16L2 | ENSG00000168010.11 | transcript | ENST00000321297.10 | protein_coding | 16/17 | chr11 | TogoVar | ||||||
ATG2A_chr11_64889546_64922209 | 64897972 | G | A | missense_variant others(1): Show |
MODERATE | HG01109.hp1 HG01934.hp2 HG02055.hp2 others(14): Show |
a0003a0007a0017others(2): Show | a0003c0003a0007c0011a0007c0025others(3): Show | a0003c0003t0001a0007c0011t0001a0007c0025t0001others(3): Show | a0003c0003t0001g0018a0003c0003t0001g0032a0003c0003t0001g0079others(10): Show | 17 | 372 | 0.0457 | 0 | c.486 others(4): Show |
p.Arg others(7): Show |
ATG2A | ENSG00000110046.14 | transcript | ENST00000377264.8 | protein_coding | 35/41 | 4935/6318 | 4861/5817 | 1621/1938 | chr11 | TogoVar | ||
ATG2A_chr11_64889546_64922209 | 64898846 | T | C | splice_region_variant others(1): Show |
LOW | HG02083.hp1 NA18955.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193a0001c0001t0001g0199 | 2 | 372 | 0.0054 | 0 | c.446 others(6): Show |
ATG2A | ENSG00000110046.14 | transcript | ENST00000377264.8 | protein_coding | 31/40 | chr11 | TogoVar | ||||||
ATG2A_chr11_64889546_64922209 | 64898849 | G | T | splice_region_variant others(1): Show |
LOW | NA19058.hp2 NA19070.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0038 | 2 | 372 | 0.0054 | 0 | c.446 others(6): Show |
ATG2A | ENSG00000110046.14 | transcript | ENST00000377264.8 | protein_coding | 31/40 | chr11 | TogoVar | ||||||
ATG2A_chr11_64889546_64922209 | 64905663 | T | C | splice_region_variant others(1): Show |
LOW | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 372 | 0.0027 | 0 | c.337 others(6): Show |
ATG2A | ENSG00000110046.14 | transcript | ENST00000377264.8 | protein_coding | 23/40 | chr11 | TogoVar | ||||||
ATG2A_chr11_64889546_64922209 | 64908988 | C | T | splice_region_variant others(1): Show |
LOW | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 372 | 0.0027 | 0 | c.236 others(6): Show |
ATG2A | ENSG00000110046.14 | transcript | ENST00000377264.8 | protein_coding | 16/40 | chr11 | TogoVar | ||||||
ATG2A_chr11_64889546_64922209 | 64910037 | C | T | splice_region_variant others(1): Show |
LOW | HG01109.hp1 HG01934.hp2 HG02055.hp2 others(12): Show |
a0003a0007a0017 | a0003c0003a0007c0011a0007c0025others(1): Show | a0003c0003t0001a0007c0011t0001a0007c0025t0001others(1): Show | a0003c0003t0001g0018a0003c0003t0001g0032a0003c0003t0001g0079others(8): Show | 15 | 372 | 0.0403 | 0 | c.186 others(6): Show |
ATG2A | ENSG00000110046.14 | transcript | ENST00000377264.8 | protein_coding | 13/40 | chr11 | TogoVar | ||||||
ATG2B_chr14_96274195_96368341 | 96285990 | G | A | splice_region_variant others(1): Show |
LOW | HG03942.hp2 | a0004 | a0004c0006 | a0004c0006t0010 | a0004c0006t0010g0336 | 1 | 356 | 0.0028 | 0 | c.600 others(6): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 41/41 | chr14 | TogoVar | ||||||
ATG2B_chr14_96274195_96368341 | 96312083 | T | A | splice_region_variant others(1): Show |
LOW | HG02145.hp2 HG02922.hp2 NA19240.hp2 |
a0002 | a0002c0001 | a0002c0001t0006a0002c0001t0040 | a0002c0001t0006g0162a0002c0001t0006g0167a0002c0001t0040g0166 | 3 | 356 | 0.0084 | 0 | c.391 others(6): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 26/41 | chr14 | TogoVar | ||||||
ATG2B_chr14_96274195_96368341 | 96315587 | G | C | splice_region_variant others(1): Show |
LOW | HG02145.hp1 HG02717.hp1 HG02895.hp2 others(7): Show |
a0006a0018a0025 | a0006c0007a0018c0023a0025c0027 | a0006c0007t0008a0018c0023t0036a0025c0027t0008 | a0006c0007t0008g0001a0006c0007t0008g0080a0006c0007t0008g0081others(4): Show | 10 | 356 | 0.0281 | 0 | c.336 others(6): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 21/41 | chr14 | TogoVar | ||||||
ATG2B_chr14_96274195_96368341 | 96317860 | A | G | splice_region_variant others(1): Show |
LOW | HG03225.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0323 | 1 | 356 | 0.0028 | 0 | c.288 others(6): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 18/41 | chr14 | TogoVar | ||||||
ATG2B_chr14_96274195_96368341 | 96324000 | T | TA | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00323.hp1 HG00558.hp2 others(118): Show |
a0001a0002a0003others(7): Show | a0001c0002a0001c0003a0001c0005others(15): Show | a0001c0002t0001a0001c0002t0026a0001c0002t0052others(30): Show | a0001c0002t0001g0011a0001c0002t0001g0012a0001c0002t0001g0258others(115): Show | 121 | 356 | 0.3399 | 1 | c.243 others(7): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 15/41 | chr14 | TogoVar | ||||||
ATG3_chr3_112527510_112566962 | 112544110 | T | C | splice_region_variant others(1): Show |
LOW | HG00280.hp1 HG01069.hp2 HG01071.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0010a0001c0001t0001g0028others(21): Show | 36 | 376 | 0.0957 | 0 | c.344 others(5): Show |
ATG3 | ENSG00000144848.11 | transcript | ENST00000283290.10 | protein_coding | 5/11 | chr3 | TogoVar | ||||||
ATG4B_chr2_241632693_241678857 | 241653506 | C | T | splice_region_variant others(1): Show |
LOW | HG03209.hp1 | a0003 | a0003c0008 | a0003c0008t0019 | a0003c0008t0019g0042 | 1 | 410 | 0.0024 | 0 | c.185 others(5): Show |
ATG4B | ENSG00000168397.17 | transcript | ENST00000404914.8 | protein_coding | 3/12 | chr2 | TogoVar | ||||||
ATG4B_chr2_241632693_241678857 | 241671314 | G | A | splice_region_variant others(1): Show |
LOW | HG03017.hp1 | a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0306 | 1 | 410 | 0.0024 | 0 | c.101 others(4): Show |
p.Leu others(6): Show |
ATG4B | ENSG00000168397.17 | transcript | ENST00000404914.8 | protein_coding | 12/13 | 1039/2797 | 1017/1182 | 339/393 | chr2 | TogoVar | ||
ATG4C_chr1_62779132_62870516 | 62805152 | C | CT | splice_region_variant others(1): Show |
LOW | HG02723.hp1 HG02922.hp1 HG02922.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(1): Show | a0001c0001t0001g0286a0001c0001t0002g0181a0001c0001t0002g0244others(5): Show | 8 | 322 | 0.0248 | 1 | c.77- others(5): Show |
ATG4C | ENSG00000125703.15 | transcript | ENST00000317868.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATG4C_chr1_62779132_62870516 | 62805152 | CT | C | splice_region_variant others(1): Show |
LOW | HG01070.hp1 HG01884.hp2 HG02486.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011 | a0001c0001t0001g0001a0001c0001t0001g0236a0001c0001t0001g0237others(11): Show | 17 | 322 | 0.0528 | -1 | c.77- others(5): Show |
ATG4C | ENSG00000125703.15 | transcript | ENST00000317868.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATG4D_chr19_10538904_10558418 | 10544874 | G | C | splice_region_variant others(1): Show |
LOW | NA20129.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0064 | 1 | 406 | 0.0025 | 0 | c.319 others(5): Show |
ATG4D | ENSG00000130734.10 | transcript | ENST00000309469.9 | protein_coding | 2/9 | chr19 | TogoVar |