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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARHGAP35_chr19_46855997_47010077 | 46888261 | AATATATA others(33): Show |
A | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0115 | 1 | 33 | 0.0303 | -40 | c.-18 others(61): Show |
ARHGAP35 | ENSG00000160007.20 | transcript | ENST00000672722.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ARHGAP39_chr8_144524179_144690846 | 144561388 | CCCAGTGG others(33): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00639.hp1 others(7): Show |
a0001a0003 | a0001c0003a0001c0005a0001c0010others(1): Show | a0001c0003t0001a0001c0003t0009a0001c0005t0001others(3): Show | a0001c0003t0001g0004 a0001c0003t0001g0011 a0001c0003t0001g0095 others(7): Show |
10 | 244 | 0.0410 | -40 | c.513 others(57): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 3/11 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144561568 | CCCAGTGG others(33): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(66): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0018others(7): Show | a0001c0001t0001g0044 a0001c0001t0001g0060 a0001c0001t0001g0091 others(66): Show |
69 | 244 | 0.2828 | -40 | c.513 others(57): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 3/11 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144620226 | TGTGTGTG others(33): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00735.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0002g0132 others(21): Show |
24 | 164 | 0.1463 | -40 | c.-81 others(59): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1/11 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144620468 | TGTGTGCC others(33): Show |
T | intron_variant | MODIFIER | NA18990.hp1 NA21309.hp1 |
a0001 | a0001c0002a0001c0017 | a0001c0002t0001a0001c0017t0001 | a0001c0002t0001g0213 a0001c0017t0001g0059 |
2 | 244 | 0.0082 | -40 | c.-81 others(59): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1/11 | chr8 | TogoVar | |||||||
ARHGDIG_chr16_275591_288010 | 285966 | TCCCAACC others(33): Show |
T | downstream_gene_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 414 | 0.0024 | -40 | c.*31 others(51): Show |
ARHGDIG | ENSG00000242173.10 | transcript | ENST00000219409.8 | protein_coding | 2957 | chr16 | TogoVar | |||||||
ARHGEF10_chr8_1818926_1963641 | 1823999 | CGCGGGGG others(33): Show |
C | 5_prime_UTR_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0006 | a0001c0006t0039 | a0001c0006t0039g0160 | 1 | 316 | 0.0032 | -40 | c.-14 others(49): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/29 | 19342 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ARHGEF10_chr8_1818926_1963641 | 1919378 | CTGGGTGA others(33): Show |
C | intron_variant | MODIFIER | HG03831.hp2 | a0002 | a0002c0108 | a0002c0108t0003 | a0002c0108t0003g0118 | 1 | 361 | 0.0028 | -40 | c.214 others(59): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 18/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1919587 | GGAGCTGT others(33): Show |
G | intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0140 | a0001c0140t0004 | a0001c0140t0004g0294 | 1 | 362 | 0.0028 | -40 | c.214 others(59): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 18/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF11_chr1_156929840_157050742 | 157035871 | ATATATAT others(33): Show |
A | intron_variant | MODIFIER | HG03654.hp2 HG03831.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0097 a0002c0002t0002g0100 |
2 | 359 | 0.0056 | -40 | c.32+ others(55): Show |
ARHGEF11 | ENSG00000132694.19 | transcript | ENST00000368194.8 | protein_coding | 1/40 | chr1 | TogoVar | |||||||
ARHGEF12_chr11_120331413_120494937 | 120351419 | ATATATAT others(33): Show |
A | intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0296 | 1 | 306 | 0.0033 | -40 | c.32+ others(57): Show |
ARHGEF12 | ENSG00000196914.9 | transcript | ENST00000397843.7 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ARHGEF18_chr19_7343937_7477478 | 7450257 | GTCCATTT others(33): Show |
G | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0220 | 1 | 296 | 0.0034 | -40 | c.173 others(57): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 15/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ARHGEF18_chr19_7343937_7477478 | 7450422 | GGGATCTT others(33): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00609.hp2 others(26): Show |
a0001a0002a0003others(6): Show | a0001c0018a0001c0047a0002c0005others(8): Show | a0001c0018t0001a0001c0047t0002a0002c0005t0001others(9): Show | a0001c0018t0001g0134 a0001c0018t0001g0164 a0001c0018t0001g0197 others(26): Show |
29 | 296 | 0.0980 | -40 | c.173 others(57): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 15/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ARHGEF28_chr5_73621196_73946990 | 73671708 | ATATATAT others(33): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02622.hp2 |
a0002a0012 | a0002c0002a0012c0072 | a0002c0002t0002a0012c0072t0005 | a0002c0002t0002g0133 a0012c0072t0005g0144 |
2 | 177 | 0.0113 | -40 | c.-11 others(59): Show |
ARHGEF28 | ENSG00000214944.10 | transcript | ENST00000513042.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ARHGEF28_chr5_73621196_73946990 | 73737439 | CTTCTTTT others(33): Show |
C | intron_variant | MODIFIER | HG02602.hp2 HG03471.hp1 HG03486.hp2 others(1): Show |
a0004a0008a0015others(1): Show | a0004c0018a0008c0011a0015c0038others(1): Show | a0004c0018t0001a0008c0011t0002a0015c0038t0001others(1): Show | a0004c0018t0001g0179 a0008c0011t0002g0162 a0015c0038t0001g0061 others(1): Show |
4 | 23 | 0.1739 | -40 | c.34- others(57): Show |
ARHGEF28 | ENSG00000214944.10 | transcript | ENST00000513042.7 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ARHGEF38_chr4_105547620_105685914 | 105561424 | GGAATAGA others(33): Show |
G | intron_variant | MODIFIER | HG02015.hp2 HG02040.hp2 NA19072.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 a0001c0001t0001g0164 a0001c0001t0001g0180 |
3 | 118 | 0.0254 | -40 | c.196 others(57): Show |
ARHGEF38 | ENSG00000236699.9 | transcript | ENST00000420470.3 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45899655 | ATATATAT others(33): Show |
A | intron_variant | MODIFIER | HG02886.hp1 HG02965.hp1 NA18973.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0006 | a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0190 others(4): Show |
7 | 316 | 0.0222 | -40 | c.536 others(59): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ARID4B_chr1_235161902_235333179 | 235173757 | AAAAAAAA others(33): Show |
A | intron_variant | MODIFIER | HG02486.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0128 | 1 | 257 | 0.0039 | -40 | c.366 others(58): Show |
ARID4B | ENSG00000054267.22 | transcript | ENST00000264183.9 | protein_coding | 22/23 | chr1 | TogoVar | |||||||
ARID4B_chr1_235161902_235333179 | 235309000 | GCCCGGCC others(33): Show |
G | intron_variant | MODIFIER | HG01106.hp2 HG01243.hp2 HG01884.hp1 others(10): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0157 a0001c0004t0001g0158 a0001c0004t0001g0161 others(10): Show |
13 | 270 | 0.0481 | -40 | c.6+1 others(55): Show |
ARID4B | ENSG00000054267.22 | transcript | ENST00000264183.9 | protein_coding | 2/23 | chr1 | TogoVar | |||||||
ARL3_chr10_102668731_102719397 | 102688805 | TGGCATGT others(33): Show |
T | intron_variant | MODIFIER | NA19055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 422 | 0.0024 | -40 | c.315 others(57): Show |
ARL3 | ENSG00000138175.9 | transcript | ENST00000260746.6 | protein_coding | 4/5 | chr10 | TogoVar | |||||||
ARMC8_chr3_138182301_138303373 | 138229144 | ATATATAT others(33): Show |
A | intron_variant | MODIFIER | HG01256.hp2 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 a0001c0001t0001g0231 |
2 | 243 | 0.0082 | -40 | c.528 others(55): Show |
ARMC8 | ENSG00000114098.18 | transcript | ENST00000469044.6 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ARMT1_chr6_151447466_151475101 | 151450134 | GCCCGGCC others(33): Show |
G | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00558.hp2 others(97): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0006 | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(2): Show | a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0002t0001g0002 others(23): Show |
100 | 416 | 0.2404 | -40 | c.-24 others(51): Show |
ARMT1 | ENSG00000146476.11 | transcript | ENST00000367294.4 | protein_coding | 2331 | chr6 | TogoVar | |||||||
ARRDC2_chr19_18003170_18019102 | 18005825 | CCAGACGG others(33): Show |
C | upstream_gene_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 412 | 0.0024 | -40 | c.-24 others(51): Show |
ARRDC2 | ENSG00000105643.11 | transcript | ENST00000222250.5 | protein_coding | 2344 | chr19 | TogoVar | |||||||
ARRDC2_chr19_18003170_18019102 | 18005839 | AGCCGGGC others(33): Show |
A | upstream_gene_variant | MODIFIER | NA18963.hp2 NA19002.hp1 NA19054.hp1 |
a0001a0014 | a0001c0001a0014c0016 | a0001c0001t0007a0014c0016t0007 | a0001c0001t0007g0002 a0014c0016t0007g0002 |
3 | 412 | 0.0073 | -40 | c.-24 others(51): Show |
ARRDC2 | ENSG00000105643.11 | transcript | ENST00000222250.5 | protein_coding | 2330 | chr19 | TogoVar | |||||||
ARSG_chr17_68286495_68425814 | 68331193 | CTTTCTTT others(33): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG00642.hp1 HG01069.hp1 others(25): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(14): Show | a0001c0001t0001g0124 a0001c0001t0002g0086 a0001c0001t0002g0099 others(25): Show |
28 | 302 | 0.0927 | -40 | c.219 others(59): Show |
ARSG | ENSG00000141337.13 | transcript | ENST00000621439.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ARSJ_chr4_113895284_113984647 | 113924056 | AATATATA others(33): Show |
A | intron_variant | MODIFIER | HG03195.hp1 | a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0056 | 1 | 328 | 0.0030 | -40 | c.399 others(59): Show |
ARSJ | ENSG00000180801.14 | transcript | ENST00000315366.8 | protein_coding | 1/1 | chr4 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130049257 | GGGGAACA others(33): Show |
G | downstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 306 | 0.0033 | -40 | c.*54 others(51): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2846 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130049662 | GGGGGCAG others(33): Show |
G | downstream_gene_variant | MODIFIER | HG00738.hp2 HG01256.hp1 |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0010 | a0002c0003t0001g0026 a0002c0003t0010g0016 |
2 | 305 | 0.0066 | -40 | c.*50 others(51): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2441 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130049671 | GGGGAACA others(33): Show |
G | downstream_gene_variant | MODIFIER | HG00597.hp2 NA19091.hp2 |
a0002 | a0002c0002a0002c0011 | a0002c0002t0001a0002c0011t0001 | a0002c0002t0001g0075 a0002c0011t0001g0074 |
2 | 306 | 0.0065 | -40 | c.*50 others(51): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2432 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130049692 | GGGGAACA others(33): Show |
G | downstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 299 | 0.0033 | -40 | c.*49 others(51): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2411 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130049733 | GGGGAACA others(33): Show |
G | downstream_gene_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0025 | 1 | 305 | 0.0033 | -40 | c.*49 others(51): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2370 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130049816 | GGAGAACA others(33): Show |
G | downstream_gene_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0229 | 1 | 304 | 0.0033 | -40 | c.*48 others(51): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2287 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130049827 | GGGGGCAG others(33): Show |
G | downstream_gene_variant | MODIFIER | HG02723.hp2 | a0002 | a0002c0002 | a0002c0002t0022 | a0002c0002t0022g0242 | 1 | 306 | 0.0033 | -40 | c.*48 others(51): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2276 | chr8 | TogoVar | |||||||
ASB15_chr7_123596821_123644481 | 123620522 | ATATATAT others(33): Show |
A | intron_variant | MODIFIER | NA19010.hp2 NA19077.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0014 | a0001c0001t0008g0244 a0001c0001t0014g0240 |
2 | 376 | 0.0053 | -40 | c.451 others(57): Show |
ASB15 | ENSG00000146809.14 | transcript | ENST00000451215.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ASB5_chr4_176208673_176274222 | 176219535 | TATATATA others(33): Show |
T | intron_variant | MODIFIER | HG01346.hp2 NA18972.hp1 NA19003.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 a0001c0001t0001g0165 a0001c0001t0001g0239 others(1): Show |
4 | 408 | 0.0098 | -40 | c.670 others(57): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33012555 | CACCTCCC others(33): Show |
C | downstream_gene_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0026 | 1 | 238 | 0.0042 | -40 | c.*13 others(51): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 531 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33269613 | CCCTTCCT others(33): Show |
C | intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0035 | 1 | 105 | 0.0095 | -40 | c.708 others(59): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
ASIC5_chr4_155824729_155871277 | 155853588 | TATAATAT others(33): Show |
T | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0065 | 1 | 332 | 0.0030 | -40 | c.585 others(55): Show |
ASIC5 | ENSG00000256394.3 | transcript | ENST00000537611.3 | protein_coding | 3/9 | chr4 | TogoVar | |||||||
ASPSCR1_chr17_81972629_82022406 | 82006068 | CGTGTCCT others(33): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp1 HG02630.hp2 others(3): Show |
a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0009 a0001c0008t0002g0211 a0001c0008t0002g0212 others(1): Show |
6 | 364 | 0.0165 | -40 | c.934 others(57): Show |
ASPSCR1 | ENSG00000169696.16 | transcript | ENST00000306739.9 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ATAD2_chr8_123314850_123401447 | 123314894 | GGGGTCAG others(33): Show |
G | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(262): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0004others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0001 a0001c0001t0001g0044 a0001c0001t0001g0058 others(261): Show |
265 | 276 | 0.9601 | -40 | c.*62 others(51): Show |
ATAD2 | ENSG00000156802.13 | transcript | ENST00000287394.10 | protein_coding | 4955 | chr8 | TogoVar | |||||||
ATG2B_chr14_96274195_96368341 | 96308219 | AATATATA others(33): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG02486.hp2 NA18939.hp1 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0023 | a0001c0003t0003g0003 a0001c0003t0003g0207 a0001c0003t0003g0219 others(1): Show |
5 | 349 | 0.0143 | -40 | c.430 others(59): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 29/41 | chr14 | TogoVar | |||||||
ATG2B_chr14_96274195_96368341 | 96308246 | ATATATAC others(33): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG03540.hp2 NA18941.hp1 |
a0001a0005 | a0001c0003a0005c0010 | a0001c0003t0020a0005c0010t0012 | a0001c0003t0020g0017 a0005c0010t0012g0230 a0005c0010t0012g0231 |
3 | 345 | 0.0087 | -40 | c.430 others(59): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 29/41 | chr14 | TogoVar | |||||||
ATG4A_chrX_108086778_108159671 | 108148020 | AATATATA others(33): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG00639.hp2 others(91): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 others(73): Show |
94 | 98 | 0.9592 | -40 | c.815 others(57): Show |
ATG4A | ENSG00000101844.18 | transcript | ENST00000372232.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ATG4C_chr1_62779132_62870516 | 62850854 | GTATATAT others(33): Show |
G | intron_variant | MODIFIER | NA18961.hp1 NA18969.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 a0001c0001t0001g0087 |
2 | 200 | 0.0100 | -40 | c.120 others(59): Show |
ATG4C | ENSG00000125703.15 | transcript | ENST00000317868.9 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATOSA_chr15_52576321_52684388 | 52597165 | GTTCTATT others(33): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(328): Show |
a0001a0002a0004others(8): Show | a0001c0001a0001c0003a0001c0015others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 others(309): Show |
331 | 339 | 0.9764 | -40 | c.264 others(59): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 9/12 | chr15 | TogoVar | |||||||
ATP11A_chr13_112685038_112892168 | 112766952 | GGGAGTGC others(33): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG02738.hp2 HG03669.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0057a0001c0004t0006a0002c0003t0002others(1): Show | a0001c0001t0057g0161 a0001c0004t0006g0110 a0002c0003t0002g0090 others(2): Show |
5 | 252 | 0.0198 | -40 | c.40- others(57): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112766959 | CTGGGAGC others(33): Show |
C | intron_variant | MODIFIER | NA19084.hp2 | a0003 | a0003c0007 | a0003c0007t0011 | a0003c0007t0011g0025 | 1 | 160 | 0.0063 | -40 | c.40- others(57): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112767119 | TGGGAGCC others(33): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00733.hp2 HG00741.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0019a0001c0001t0057others(4): Show | a0001c0001t0001g0015 a0001c0001t0019g0018 a0001c0001t0057g0161 others(4): Show |
7 | 251 | 0.0279 | -40 | c.40- others(57): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112767274 | TGTTGGGG others(33): Show |
T | intron_variant | MODIFIER | HG02129.hp2 NA18906.hp2 |
a0001a0003 | a0001c0009a0003c0012 | a0001c0009t0003a0003c0012t0005 | a0001c0009t0003g0218 a0003c0012t0005g0188 |
2 | 212 | 0.0094 | -40 | c.40- others(57): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112815160 | AATGGCTT others(33): Show |
A | intron_variant | MODIFIER | HG02895.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0157 a0001c0001t0023g0158 |
2 | 252 | 0.0079 | -40 | c.442 others(55): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |