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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANOS1_chrX_8523874_8737137 | 8668555 | CATATATA others(32): Show |
C | intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 229 | 0.0044 | -39 | c.255 others(58): Show |
ANOS1 | ENSG00000011201.12 | transcript | ENST00000262648.8 | protein_coding | 2/13 | chrX | TogoVar | |||||||
ANTKMT_chr16_716146_727590 | 720215 | ACGGGTGT others(32): Show |
A | upstream_gene_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG02723.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0002t0001g0001 |
11 | 390 | 0.0282 | -39 | c.-10 others(50): Show |
ANTKMT | ENSG00000103254.10 | transcript | ENST00000569529.6 | protein_coding | 930 | chr16 | TogoVar | |||||||
ANTXR1_chr2_69008179_69254327 | 69096280 | GGAAGGAA others(32): Show |
G | intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 204 | 0.0049 | -39 | c.703 others(56): Show |
ANTXR1 | ENSG00000169604.21 | transcript | ENST00000303714.9 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AP3D1_chr19_2095988_2156566 | 2125057 | CACATAAA others(32): Show |
C | intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0322 | 1 | 404 | 0.0025 | -39 | c.857 others(56): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 9/31 | chr19 | TogoVar | |||||||
AP3D1_chr19_2095988_2156566 | 2128475 | CGCTCCGA others(32): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG01993.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0011 a0001c0001t0001g0091 a0001c0001t0001g0125 others(8): Show |
11 | 294 | 0.0374 | -39 | c.806 others(54): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 8/31 | chr19 | TogoVar | |||||||
AP3D1_chr19_2095988_2156566 | 2128633 | CGCTCCGA others(32): Show |
C | intron_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 261 | 0.0038 | -39 | c.806 others(54): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 8/31 | chr19 | TogoVar | |||||||
AP3D1_chr19_2095988_2156566 | 2128712 | CGCTCCGA others(32): Show |
C | intron_variant | MODIFIER | HG02615.hp2 HG03225.hp2 HG03669.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0010a0001c0002t0001others(2): Show | a0001c0001t0001g0134 a0001c0001t0001g0143 a0001c0001t0001g0180 others(4): Show |
7 | 258 | 0.0271 | -39 | c.806 others(54): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 8/31 | chr19 | TogoVar | |||||||
AP3D1_chr19_2095988_2156566 | 2128784 | CCCCCGCC others(32): Show |
C | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0326 | 1 | 386 | 0.0026 | -39 | c.806 others(54): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 8/31 | chr19 | TogoVar | |||||||
AP3D1_chr19_2095988_2156566 | 2128791 | CGCTCCGA others(32): Show |
C | intron_variant | MODIFIER | HG01978.hp1 HG02040.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002 | a0001c0001t0001g0113 a0001c0003t0002g0038 |
2 | 269 | 0.0074 | -39 | c.806 others(54): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 8/31 | chr19 | TogoVar | |||||||
APBB1IP_chr10_26433341_26572803 | 26449997 | CCCTGTCT others(32): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG02080.hp2 HG02132.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 others(1): Show |
4 | 356 | 0.0112 | -39 | c.-1+ others(56): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40982194 | GGAAAGAA others(32): Show |
G | intron_variant | MODIFIER | HG02897.hp2 | a0002 | a0002c0001 | a0002c0001t0050 | a0002c0001t0050g0188 | 1 | 125 | 0.0080 | -39 | c.835 others(58): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 6/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 41159961 | GAGAAGAA others(32): Show |
G | intron_variant | MODIFIER | NA18906.hp1 | a0002 | a0002c0001 | a0002c0001t0016 | a0002c0001t0016g0150 | 1 | 66 | 0.0152 | -39 | c.-41 others(60): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 1/17 | chr4 | TogoVar | |||||||
AQP2_chr12_49945737_49963878 | 49957097 | ATTTCATT others(32): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0001 | 1 | 440 | 0.0023 | -39 | c.*14 others(50): Show |
AQP2 | ENSG00000167580.8 | transcript | ENST00000199280.4 | protein_coding | 4/4 | 1490 | chr12 | TogoVar | ||||||
AQP5_chr12_49956872_49970682 | 49957097 | ATTTCATT others(32): Show |
A | upstream_gene_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0132 | 1 | 464 | 0.0022 | -39 | c.-49 others(50): Show |
AQP5 | ENSG00000161798.7 | transcript | ENST00000293599.7 | protein_coding | 4774 | chr12 | TogoVar | |||||||
ARFIP1_chr4_152774954_152917357 | 152867031 | GGCTCCTC others(32): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG02886.hp1 HG02976.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0174 a0001c0001t0004g0175 a0001c0001t0004g0176 others(3): Show |
6 | 340 | 0.0176 | -39 | c.202 others(56): Show |
ARFIP1 | ENSG00000164144.16 | transcript | ENST00000353617.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ARFIP1_chr4_152774954_152917357 | 152867041 | ATCCCAGA others(32): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG02895.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 |
3 | 340 | 0.0088 | -39 | c.202 others(56): Show |
ARFIP1 | ENSG00000164144.16 | transcript | ENST00000353617.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ARHGAP15_chr2_143124419_143773352 | 143153813 | TTCTTCTT others(32): Show |
T | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 160 | 0.0063 | -39 | c.-14 others(56): Show |
ARHGAP15 | ENSG00000075884.14 | transcript | ENST00000295095.11 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ARHGAP15_chr2_143124419_143773352 | 143153840 | TTCTTCCT others(32): Show |
T | intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 71 | 0.0141 | -39 | c.-14 others(56): Show |
ARHGAP15 | ENSG00000075884.14 | transcript | ENST00000295095.11 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ARHGAP23_chr17_38423464_38517385 | 38453796 | TCCGGGGG others(32): Show |
T | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0031 | a0001c0031t0003 | a0001c0031t0003g0067 | 1 | 308 | 0.0032 | -39 | c.64- others(54): Show |
ARHGAP23 | ENSG00000275832.5 | transcript | ENST00000622683.5 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ARHGAP42_chr11_100682288_100998941 | 100921213 | ACATATAT others(32): Show |
A | intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 284 | 0.0035 | -39 | c.487 others(54): Show |
ARHGAP42 | ENSG00000165895.19 | transcript | ENST00000298815.13 | protein_coding | 5/23 | chr11 | TogoVar | |||||||
ARHGAP45_chr19_1062167_1091628 | 1062875 | ACCCCATA others(32): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG00738.hp2 others(10): Show |
a0001a0005a0007 | a0001c0002a0001c0004a0005c0016others(1): Show | a0001c0002t0001a0001c0004t0005a0001c0004t0016others(2): Show | a0001c0002t0001g0002 a0001c0002t0001g0045 a0001c0002t0001g0171 others(9): Show |
13 | 416 | 0.0313 | -39 | c.-45 others(50): Show |
ARHGAP45 | ENSG00000180448.11 | transcript | ENST00000313093.7 | protein_coding | 4291 | chr19 | TogoVar | |||||||
ARHGAP45_chr19_1062167_1091628 | 1063297 | TGCCCCAC others(32): Show |
T | upstream_gene_variant | MODIFIER | NA18973.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0180 | 1 | 416 | 0.0024 | -39 | c.-41 others(50): Show |
ARHGAP45 | ENSG00000180448.11 | transcript | ENST00000313093.7 | protein_coding | 3869 | chr19 | TogoVar | |||||||
ARHGEF10_chr8_1818926_1963641 | 1825072 | CGCACTCC others(32): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00673.hp1 others(23): Show |
a0001a0002a0003others(2): Show | a0001c0003a0001c0004a0001c0009others(19): Show | a0001c0003t0058a0001c0004t0004a0001c0009t0059others(21): Show | a0001c0003t0058g0338 a0001c0004t0004g0296 a0001c0009t0059g0298 others(23): Show |
26 | 362 | 0.0718 | -39 | c.-48 others(55): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF12_chr11_120331413_120494937 | 120351423 | ATATATAT others(32): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01358.hp1 NA20129.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0030 a0001c0002t0003g0033 a0001c0002t0003g0039 others(1): Show |
4 | 230 | 0.0174 | -39 | c.32+ others(56): Show |
ARHGEF12 | ENSG00000196914.9 | transcript | ENST00000397843.7 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ARHGEF18_chr19_7343937_7477478 | 7362014 | AAGGAGAA others(32): Show |
A | intron_variant | MODIFIER | HG02630.hp1 | a0008 | a0008c0014 | a0008c0014t0004 | a0008c0014t0004g0122 | 1 | 234 | 0.0043 | -39 | c.-11 others(56): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ARHGEF18_chr19_7343937_7477478 | 7362131 | GAGAAGGA others(32): Show |
G | intron_variant | MODIFIER | HG01884.hp1 | a0016 | a0016c0026 | a0016c0026t0019 | a0016c0026t0019g0045 | 1 | 288 | 0.0035 | -39 | c.-11 others(56): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ARHGEF18_chr19_7343937_7477478 | 7385868 | TCTCCCCC others(32): Show |
T | intron_variant | MODIFIER | HG02896.hp1 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0018 | 1 | 293 | 0.0034 | -39 | c.967 others(56): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 10/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ARHGEF4_chr2_130831914_131052253 | 130833397 | AAAAGAAA others(32): Show |
A | upstream_gene_variant | MODIFIER | HG02486.hp2 HG03209.hp2 NA19030.hp2 others(1): Show |
a0001a0006a0010 | a0001c0033a0001c0045a0006c0005others(1): Show | a0001c0033t0001a0001c0045t0001a0006c0005t0001others(1): Show | a0001c0033t0001g0111 a0001c0045t0001g0085 a0006c0005t0001g0094 others(1): Show |
4 | 132 | 0.0303 | -39 | c.-35 others(50): Show |
ARHGEF4 | ENSG00000136002.21 | transcript | ENST00000409359.7 | protein_coding | 3516 | chr2 | TogoVar | |||||||
ARHGEF7_chr13_111110310_111310732 | 111222238 | GAAAATTT others(32): Show |
G | intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 272 | 0.0037 | -39 | c.670 others(56): Show |
ARHGEF7 | ENSG00000102606.20 | transcript | ENST00000646102.2 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ARL15_chr5_53878942_54315573 | 54029306 | TACCACCA others(32): Show |
T | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0188 | 1 | 198 | 0.0051 | -39 | c.462 others(58): Show |
ARL15 | ENSG00000185305.12 | transcript | ENST00000504924.6 | protein_coding | 4/4 | chr5 | TogoVar | |||||||
ARMT1_chr6_151447466_151475101 | 151450052 | GCCTCTGC others(32): Show |
G | upstream_gene_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 416 | 0.0024 | -39 | c.-24 others(50): Show |
ARMT1 | ENSG00000146476.11 | transcript | ENST00000367294.4 | protein_coding | 2413 | chr6 | TogoVar | |||||||
ARRDC1_chr9_137600686_137620360 | 137601229 | ATATATAT others(32): Show |
A | upstream_gene_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0030 | 1 | 335 | 0.0030 | -39 | c.-44 others(50): Show |
ARRDC1 | ENSG00000197070.14 | transcript | ENST00000371421.9 | protein_coding | 4456 | chr9 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78937427 | CATATATA others(32): Show |
C | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0003 | a0001c0003t0012 | a0001c0003t0012g0088 | 1 | 358 | 0.0028 | -39 | c.898 others(58): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 4/7 | chr5 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130072550 | TCAGGTAT others(32): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG00609.hp2 HG00621.hp2 others(100): Show |
a0001 | a0001c0001a0001c0004a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(16): Show | a0001c0001t0001g0020 a0001c0001t0001g0038 a0001c0001t0001g0039 others(100): Show |
103 | 306 | 0.3366 | -39 | c.270 others(58): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | |||||||
ASB15_chr7_123596821_123644481 | 123620522 | ATATATAT others(32): Show |
A | intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0245 | 1 | 375 | 0.0027 | -39 | c.451 others(56): Show |
ASB15 | ENSG00000146809.14 | transcript | ENST00000451215.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ASZ1_chr7_117358222_117432493 | 117427222 | AAACTCCC others(32): Show |
A | intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0281 | 1 | 304 | 0.0033 | -39 | c.105 others(53): Show |
ASZ1 | ENSG00000154438.8 | transcript | ENST00000284629.7 | protein_coding | 1/12 | chr7 | TogoVar | |||||||
ATAD2_chr8_123314850_123401447 | 123314895 | GGGTCAGC others(32): Show |
G | downstream_gene_variant | MODIFIER | HG00408.hp2 HG02056.hp1 HG03209.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0172 a0001c0001t0001g0239 a0001c0001t0002g0090 others(1): Show |
4 | 276 | 0.0145 | -39 | c.*62 others(50): Show |
ATAD2 | ENSG00000156802.13 | transcript | ENST00000287394.10 | protein_coding | 4954 | chr8 | TogoVar | |||||||
ATAD3A_chr1_1507162_1539685 | 1516294 | TGGTGTTG others(32): Show |
T | intron_variant | MODIFIER | HG04228.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0177 | 1 | 418 | 0.0024 | -39 | c.282 others(54): Show |
ATAD3A | ENSG00000197785.14 | transcript | ENST00000378756.8 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATAD3A_chr1_1507162_1539685 | 1528364 | CTGAGACC others(32): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG02717.hp2 HG02809.hp1 others(8): Show |
a0001a0004a0010 | a0001c0003a0004c0010a0010c0013 | a0001c0003t0001a0004c0010t0001a0010c0013t0001 | a0001c0003t0001g0099 a0001c0003t0001g0101 a0001c0003t0001g0102 others(8): Show |
11 | 420 | 0.0262 | -39 | c.150 others(56): Show |
ATAD3A | ENSG00000197785.14 | transcript | ENST00000378756.8 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATAD3C_chr1_1444689_1475163 | 1461614 | AGGAGAGT others(32): Show |
A | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0042 | a0001c0042t0017 | a0001c0042t0017g0284 | 1 | 408 | 0.0025 | -39 | c.980 others(54): Show |
ATAD3C | ENSG00000215915.10 | transcript | ENST00000378785.7 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATAD3C_chr1_1444689_1475163 | 1461621 | TCTCCTCA others(32): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG02132.hp2 HG02602.hp2 others(1): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0005a0001c0003t0011a0002c0002t0010others(1): Show | a0001c0003t0005g0004 a0001c0003t0011g0004 a0002c0002t0010g0001 others(1): Show |
4 | 216 | 0.0185 | -39 | c.980 others(54): Show |
ATAD3C | ENSG00000215915.10 | transcript | ENST00000378785.7 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATAD3C_chr1_1444689_1475163 | 1461687 | CTGGAGGG others(32): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG01515.hp1 HG02258.hp2 others(1): Show |
a0001a0002a0005 | a0001c0003a0002c0002a0005c0010 | a0001c0003t0002a0002c0002t0038a0005c0010t0076 | a0001c0003t0002g0163 a0001c0003t0002g0180 a0002c0002t0038g0080 others(1): Show |
4 | 408 | 0.0098 | -39 | c.980 others(54): Show |
ATAD3C | ENSG00000215915.10 | transcript | ENST00000378785.7 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATAD3C_chr1_1444689_1475163 | 1461728 | GGAGGGAG others(32): Show |
G | intron_variant | MODIFIER | HG02735.hp2 NA18964.hp2 NA18967.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0010a0002c0002t0038others(2): Show | a0001c0001t0001g0252 a0002c0002t0010g0026 a0002c0002t0038g0097 others(2): Show |
5 | 408 | 0.0123 | -39 | c.980 others(54): Show |
ATAD3C | ENSG00000215915.10 | transcript | ENST00000378785.7 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATG14_chr14_55361391_55416830 | 55402917 | AAAAAAAA others(32): Show |
A | intron_variant | MODIFIER | NA18975.hp2 NA19064.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 2 | 360 | 0.0056 | -39 | c.222 others(56): Show |
ATG14 | ENSG00000126775.9 | transcript | ENST00000247178.6 | protein_coding | 1/9 | chr14 | TogoVar | |||||||
ATG2B_chr14_96274195_96368341 | 96308241 | TATATATA others(32): Show |
T | intron_variant | MODIFIER | HG01192.hp1 HG01952.hp2 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0197 a0001c0003t0003g0223 |
2 | 346 | 0.0058 | -39 | c.430 others(58): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 29/41 | chr14 | TogoVar | |||||||
ATG2B_chr14_96274195_96368341 | 96308243 | TATATATA others(32): Show |
T | intron_variant | MODIFIER | HG01074.hp1 HG01123.hp1 HG01168.hp1 others(27): Show |
a0001a0020 | a0001c0003a0001c0011a0020c0033 | a0001c0003t0002a0001c0003t0003a0001c0003t0027others(4): Show | a0001c0003t0002g0211 a0001c0003t0003g0003 a0001c0003t0003g0016 others(26): Show |
30 | 347 | 0.0865 | -39 | c.430 others(58): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 29/41 | chr14 | TogoVar | |||||||
ATG2B_chr14_96274195_96368341 | 96308244 | ATATATAT others(32): Show |
A | intron_variant | MODIFIER | HG00408.hp2 NA18612.hp1 NA18955.hp2 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0016 | a0001c0003t0003g0226 a0001c0003t0003g0228 a0001c0003t0016g0002 |
5 | 354 | 0.0141 | -39 | c.430 others(58): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 29/41 | chr14 | TogoVar | |||||||
ATP11A_chr13_112685038_112892168 | 112766867 | GGGTGTGG others(32): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG02738.hp2 HG03540.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0020others(1): Show | a0001c0001t0057a0001c0004t0006a0001c0020t0070others(2): Show | a0001c0001t0057g0161 a0001c0004t0006g0110 a0001c0020t0070g0055 others(3): Show |
6 | 251 | 0.0239 | -39 | c.40- others(56): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112767383 | GGATGTGG others(32): Show |
G | intron_variant | MODIFIER | HG02572.hp1 HG02572.hp2 HG03098.hp2 others(1): Show |
a0001 | a0001c0002a0001c0004a0001c0019others(1): Show | a0001c0002t0013a0001c0004t0003a0001c0019t0015others(1): Show | a0001c0002t0013g0118 a0001c0004t0003g0149 a0001c0019t0015g0147 others(1): Show |
4 | 252 | 0.0159 | -39 | c.40- others(56): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112803952 | TCCTCCTT others(32): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG02622.hp2 NA18950.hp2 others(5): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0013others(5): Show | a0001c0001t0001g0029 a0001c0002t0001g0102 a0001c0002t0013g0211 others(5): Show |
8 | 242 | 0.0331 | -39 | c.163 others(54): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |