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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASDURF_chr2_189656459_189671401 | 189665606 | A | ATATATAT others(29): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 328 | 0.0030 | 36 | c.220 others(51): Show |
ASDURF | ENSG00000286053.2 | transcript | ENST00000607829.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASH1L_chr1_155330268_155567803 | 155411582 | A | AATATATA others(29): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 127 | 0.0079 | 36 | c.600 others(55): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 6/27 | chr1 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155411586 | A | AATAAATA others(29): Show |
intron_variant | MODIFIER | HG04199.hp1 NA18954.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 a0001c0001t0001g0146 |
2 | 24 | 0.0833 | 36 | c.600 others(55): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 6/27 | chr1 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155411586 | A | AATATATA others(29): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 23 | 0.0435 | 36 | c.600 others(55): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 6/27 | chr1 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33269613 | C | CCCTTCCT others(29): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0119 | 1 | 105 | 0.0095 | 36 | c.708 others(55): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33269751 | T | TTTCCTTC others(29): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0061 | 1 | 74 | 0.0135 | 36 | c.708 others(55): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
ASIP_chr20_34236423_34274344 | 34258685 | A | ATATATAT others(29): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 293 | 0.0034 | 36 | c.-10 others(53): Show |
ASIP | ENSG00000101440.10 | transcript | ENST00000374954.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1428646 | C | CAAATAAA others(29): Show |
intron_variant | MODIFIER | HG01169.hp1 HG03041.hp1 |
a0002a0015 | a0002c0004a0015c0036 | a0002c0004t0001a0015c0036t0001 | a0002c0004t0001g0093 a0015c0036t0001g0165 |
2 | 22 | 0.0909 | 36 | c.510 others(51): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 6/12 | chrX | TogoVar | |||||||
ASNSD1_chr2_189656459_189675831 | 189665604 | A | ATATATAT others(29): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0049 | 1 | 328 | 0.0030 | 36 | c.-93 others(51): Show |
ASNSD1 | ENSG00000138381.10 | transcript | ENST00000260952.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASNSD1_chr2_189656459_189675831 | 189665606 | A | ATATATAT others(29): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0048 | 1 | 328 | 0.0030 | 36 | c.-93 others(51): Show |
ASNSD1 | ENSG00000138381.10 | transcript | ENST00000260952.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASPA_chr17_3470997_3508405 | 3506988 | A | AAGGAAGG others(29): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 HG02818.hp1 HG02886.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0016a0001c0001t0037 | a0001c0001t0014g0141 a0001c0001t0014g0270 a0001c0001t0014g0329 others(3): Show |
6 | 382 | 0.0157 | 36 | c.*79 others(47): Show |
ASPA | ENSG00000108381.11 | transcript | ENST00000263080.3 | protein_coding | 3584 | chr17 | TogoVar | |||||||
ASPRV1_chr2_69955089_69966631 | 69956451 | G | GGAAGAAG others(29): Show |
downstream_gene_variant | MODIFIER | HG01975.hp1 HG02647.hp1 HG02886.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0005g0000 |
5 | 292 | 0.0171 | 36 | c.*42 others(47): Show |
ASPRV1 | ENSG00000244617.3 | transcript | ENST00000320256.6 | protein_coding | 3637 | chr2 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116718972 | G | GTGTGTGT others(29): Show |
intron_variant | MODIFIER | HG01884.hp1 NA21309.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0011a0002c0004t0006 | a0001c0001t0011g0002 a0002c0004t0006g0003 |
2 | 30 | 0.0667 | 36 | c.280 others(55): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 16/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117003530 | G | GGTGTGTG others(29): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01256.hp1 HG01258.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0022 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0053 a0001c0001t0002g0040 a0001c0002t0001g0067 others(2): Show |
5 | 10 | 0.5000 | 36 | c.159 others(55): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 7/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117060434 | G | GGGAGGGA others(29): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0008 | a0001c0008t0005 | a0001c0008t0005g0081 | 1 | 95 | 0.0105 | 36 | c.127 others(57): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 5/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117060442 | G | GAGAAAGA others(29): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0008 | a0001c0008t0005 | a0001c0008t0005g0073 | 1 | 72 | 0.0139 | 36 | c.127 others(57): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 5/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117225535 | G | GTATGTAT others(29): Show |
intron_variant | MODIFIER | HG01261.hp2 NA19066.hp1 |
a0001a0004 | a0001c0022a0004c0018 | a0001c0022t0001a0004c0018t0003 | a0001c0022t0001g0020 a0004c0018t0003g0031 |
2 | 20 | 0.1000 | 36 | c.631 others(55): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 2/22 | chr9 | TogoVar | |||||||
ASXL2_chr2_25728753_25883487 | 25849064 | C | CATATATA others(29): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01106.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0028others(2): Show | a0001c0001t0001g0180 a0001c0001t0003g0012 a0001c0001t0003g0013 others(4): Show |
7 | 16 | 0.4375 | 36 | c.58- others(51): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
ASXL3_chr18_33573219_33756195 | 33601785 | G | GTATATAT others(29): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02886.hp2 HG02896.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0020a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0126 a0001c0001t0002g0122 a0001c0001t0005g0017 others(6): Show |
10 | 110 | 0.0909 | 36 | c.55- others(51): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ASXL3_chr18_33573219_33756195 | 33601785 | G | GTTTATAT others(29): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02976.hp1 others(2): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0002a0001c0001t0006a0004c0004t0004others(1): Show | a0001c0001t0002g0140 a0001c0001t0006g0155 a0004c0004t0004g0045 others(2): Show |
5 | 105 | 0.0476 | 36 | c.55- others(51): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATAD1_chr10_87746512_87823226 | 87798623 | G | GGTGTGTG others(29): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01257.hp2 HG01258.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 others(2): Show |
5 | 323 | 0.0155 | 36 | c.163 others(53): Show |
ATAD1 | ENSG00000138138.14 | transcript | ENST00000680024.1 | protein_coding | 2/9 | chr10 | TogoVar | |||||||
ATAD1_chr10_87746512_87823226 | 87798625 | G | GGTGTGTG others(29): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02922.hp1 NA18966.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0125 a0001c0001t0003g0031 a0001c0001t0003g0081 others(2): Show |
5 | 148 | 0.0338 | 36 | c.163 others(53): Show |
ATAD1 | ENSG00000138138.14 | transcript | ENST00000680024.1 | protein_coding | 2/9 | chr10 | TogoVar | |||||||
ATAD2B_chr2_23743664_23932123 | 23745422 | A | AAGGAAGG others(29): Show |
downstream_gene_variant | MODIFIER | HG03490.hp1 HG03492.hp1 |
a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0243 a0001c0002t0007g0244 |
2 | 176 | 0.0114 | 36 | c.*66 others(47): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 3241 | chr2 | TogoVar | |||||||
ATAD2B_chr2_23743664_23932123 | 23818228 | A | AGAGAGGG others(29): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(180): Show |
a0001a0004a0005others(5): Show | a0001c0001a0001c0002a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(20): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 others(180): Show |
183 | 199 | 0.9196 | 36 | c.226 others(55): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 17/27 | chr2 | TogoVar | |||||||
ATAD2B_chr2_23743664_23932123 | 23878025 | A | AAAAAAAA others(29): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0098 | 1 | 190 | 0.0053 | 36 | c.902 others(53): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 7/27 | chr2 | TogoVar | |||||||
ATAD2_chr8_123314850_123401447 | 123354864 | A | AAAAAAAA others(29): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0251 | 1 | 135 | 0.0074 | 36 | c.164 others(55): Show |
ATAD2 | ENSG00000156802.13 | transcript | ENST00000287394.10 | protein_coding | 13/27 | chr8 | TogoVar | |||||||
ATAD2_chr8_123314850_123401447 | 123377091 | C | CAAAAAAA others(29): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 47 | 0.0213 | 36 | c.320 others(53): Show |
ATAD2 | ENSG00000156802.13 | transcript | ENST00000287394.10 | protein_coding | 2/27 | chr8 | TogoVar | |||||||
ATCAY_chr19_3875685_3933082 | 3914235 | C | CAAAAAAA others(29): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0243 | 1 | 47 | 0.0213 | 36 | c.965 others(51): Show |
ATCAY | ENSG00000167654.18 | transcript | ENST00000450849.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ATF4_chr22_39515562_39527683 | 39523993 | C | CTTTTTTT others(29): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 172 | 0.0058 | 36 | c.*13 others(47): Show |
ATF4 | ENSG00000128272.18 | transcript | ENST00000674920.3 | protein_coding | 1311 | chr22 | TogoVar | |||||||
ATF7_chr12_53507054_53631382 | 53587366 | C | CAAAAAAA others(29): Show |
intron_variant | MODIFIER | HG00673.hp2 NA18994.hp2 NA19005.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0027 | a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0027g0194 |
3 | 91 | 0.0330 | 36 | c.48+ others(53): Show |
ATF7 | ENSG00000170653.19 | transcript | ENST00000420353.7 | protein_coding | 2/11 | chr12 | TogoVar | |||||||
ATG10_chr5_81967023_82261133 | 81993336 | C | CTTCCTTC others(29): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0160 | 1 | 94 | 0.0106 | 36 | c.108 others(53): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82118387 | C | CATATATA others(29): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0128 | 1 | 60 | 0.0167 | 36 | c.217 others(55): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82121941 | G | GTTTTTTT others(29): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 176 | 0.0057 | 36 | c.217 others(55): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11497357 | C | CTATATAT others(29): Show |
intron_variant | MODIFIER | HG01993.hp2 HG02074.hp1 NA18998.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0040 a0001c0001t0002g0227 a0001c0002t0001g0241 |
3 | 42 | 0.0714 | 36 | c.208 others(57): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATL1_chr14_50555145_50638045 | 50598925 | A | ACTGTAAT others(29): Show |
intron_variant | MODIFIER | HG01361.hp1 HG01433.hp1 HG02145.hp2 others(6): Show |
a0001 | a0001c0001a0001c0004a0001c0008 | a0001c0001t0001a0001c0004t0004a0001c0008t0001 | a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 others(6): Show |
9 | 318 | 0.0283 | 36 | c.630 others(53): Show |
ATL1 | ENSG00000198513.14 | transcript | ENST00000358385.12 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160653429 | T | TATATTAC others(29): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02818.hp1 HG03041.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0023others(1): Show | a0001c0001t0001g0228 a0001c0001t0002g0006 a0001c0001t0002g0171 others(4): Show |
7 | 176 | 0.0398 | 36 | c.676 others(53): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160704914 | C | CTTTTTTT others(29): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0174 | 1 | 33 | 0.0303 | 36 | c.-20 others(57): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 3/25 | chr5 | TogoVar | |||||||
ATP11A_chr13_112685038_112892168 | 112756795 | C | CCGGGGCC others(29): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00642.hp1 HG00738.hp2 others(14): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0001a0001c0002t0014a0001c0002t0015others(8): Show | a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0109 others(14): Show |
17 | 252 | 0.0675 | 36 | c.40- others(53): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112756814 | A | AGGGGTCT others(29): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03041.hp2 HG03453.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0016 | a0001c0001t0001a0001c0002t0014a0001c0002t0041others(1): Show | a0001c0001t0001g0146 a0001c0002t0014g0213 a0001c0002t0041g0212 others(2): Show |
5 | 252 | 0.0198 | 36 | c.40- others(53): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112756849 | G | GCGGGGCC others(29): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02976.hp1 HG03225.hp2 |
a0001a0008 | a0001c0014a0008c0023 | a0001c0014t0003a0001c0014t0045a0008c0023t0002 | a0001c0014t0003g0178 a0001c0014t0045g0056 a0008c0023t0002g0064 |
3 | 252 | 0.0119 | 36 | c.40- others(53): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112756885 | A | ACGGGGCC others(29): Show |
intron_variant | MODIFIER | HG02056.hp1 NA18971.hp2 NA19007.hp1 |
a0001 | a0001c0002a0001c0040 | a0001c0002t0012a0001c0040t0001 | a0001c0002t0012g0191 a0001c0002t0012g0252 a0001c0040t0001g0216 |
3 | 252 | 0.0119 | 36 | c.40- others(53): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112767309 | G | GGGGGTGT others(29): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0195 | 1 | 251 | 0.0040 | 36 | c.40- others(53): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11C_chrX_139721348_139938053 | 139769281 | C | CATATATA others(29): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 32 | 0.0313 | 36 | c.221 others(53): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 19/29 | chrX | TogoVar | |||||||
ATP12A_chr13_24675408_24717472 | 24708946 | A | AAAGAAAG others(29): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0054 | 1 | 271 | 0.0037 | 36 | c.249 others(53): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP2A3_chr17_3918873_3969437 | 3958823 | C | CACACACA others(29): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00558.hp2 HG00597.hp1 others(100): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0004a0001c0005others(17): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(36): Show | a0001c0003t0001g0074 a0001c0003t0001g0079 a0001c0003t0001g0105 others(93): Show |
103 | 290 | 0.3552 | 36 | c.119 others(53): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 1/20 | chr17 | TogoVar | |||||||
ATP2B1_chr12_89583049_89713838 | 89677958 | A | ATATATAT others(29): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 320 | 0.0031 | 36 | c.-22 others(57): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
ATP2B3_chrX_153512642_153587929 | 153584581 | A | AAGGAAGG others(29): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0010 | a0001c0010t0005 | a0001c0010t0005g0091 | 1 | 2 | 0.5000 | 36 | c.*42 others(47): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 1653 | chrX | TogoVar | |||||||
ATP2B3_chrX_153512642_153587929 | 153584581 | A | AAGGAAGG others(29): Show |
downstream_gene_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0155 | 1 | 2 | 0.5000 | 36 | c.*42 others(47): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 1653 | chrX | TogoVar | |||||||
ATP2B3_chrX_153512642_153587929 | 153584581 | A | AAGGAAGG others(29): Show |
downstream_gene_variant | MODIFIER | NA18957.hp1 NA19063.hp1 NA19084.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0030 | a0001c0002t0002g0089 a0001c0002t0002g0166 a0001c0002t0030g0081 |
3 | 4 | 0.7500 | 36 | c.*42 others(47): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 1653 | chrX | TogoVar | |||||||
ATP2B3_chrX_153512642_153587929 | 153584581 | A | AAGGAAGG others(29): Show |
downstream_gene_variant | MODIFIER | NA18975.hp1 NA19082.hp1 |
a0001 | a0001c0001 | a0001c0001t0032a0001c0001t0036 | a0001c0001t0032g0206 a0001c0001t0036g0214 |
2 | 3 | 0.6667 | 36 | c.*42 others(47): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 1653 | chrX | TogoVar |