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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATOSA_chr15_52576321_52684388 | 52640571 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0246 | 1 | 362 | 0.0028 | 20 | c.17- others(37): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 2/12 | chr15 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25779845 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 300 | 0.0033 | 20 | c.654 others(37): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25789565 | A | AGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG00733.hp2 HG00738.hp2 HG01169.hp1 others(8): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0087a0001c0001t0001g0088a0001c0001t0001g0192others(8): Show | 11 | 300 | 0.0367 | 20 | c.450 others(37): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 1/20 | chr15 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160637017 | T | TATCCATC others(13): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00673.hp2 others(35): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(20): Show | a0001c0001t0001g0230a0001c0001t0002g0011a0001c0001t0002g0047others(35): Show | 38 | 236 | 0.1610 | 20 | c.100 others(37): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 10/25 | chr5 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160637041 | A | AATCCATC others(13): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02717.hp2 NA19043.hp2 |
a0001 | a0001c0008a0001c0029 | a0001c0008t0019a0001c0008t0037a0001c0029t0047 | a0001c0008t0019g0030a0001c0008t0037g0023a0001c0029t0047g0219 | 3 | 236 | 0.0127 | 20 | c.100 others(37): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 10/25 | chr5 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160669918 | T | TAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02895.hp2 HG03130.hp2 HG03195.hp2 |
a0005a0025 | a0005c0012a0025c0038 | a0005c0012t0017a0025c0038t0022 | a0005c0012t0017g0186a0005c0012t0017g0196a0025c0038t0022g0133 | 3 | 236 | 0.0127 | 20 | c.675 others(35): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160849618 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0167 | 1 | 236 | 0.0042 | 20 | c.-57 others(39): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 1/25 | chr5 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112811161 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG02622.hp2 NA18973.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0054a0001c0002t0013 | a0001c0001t0054g0008a0001c0002t0013g0211 | 2 | 254 | 0.0079 | 20 | c.441 others(35): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112891635 | G | GCCCCCCC others(13): Show |
downstream_gene_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0002 | a0001c0002t0018 | a0001c0002t0018g0189 | 1 | 254 | 0.0039 | 20 | c.*97 others(31): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 4468 | chr13 | TogoVar | ||||||
ATP11B_chr3_182788504_182926629 | 182839604 | A | ATTTATTT others(13): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02257.hp1 HG02486.hp2 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0009a0001c0002t0010 | a0001c0002t0004g0001a0001c0002t0004g0312a0001c0002t0004g0313others(6): Show | 11 | 324 | 0.0340 | 20 | c.656 others(37): Show |
ATP11B | ENSG00000058063.16 | transcript | ENST00000323116.10 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP11C_chrX_139721348_139938053 | 139769281 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG02280.hp2 NA18942.hp1 NA19000.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0187a0001c0001t0002g0188a0001c0001t0002g0192 | 3 | 234 | 0.0128 | 20 | c.221 others(37): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 19/29 | chrX | TogoVar | ||||||
ATP11C_chrX_139721348_139938053 | 139866343 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0060 | 1 | 234 | 0.0043 | 20 | c.28- others(37): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | ||||||
ATP12A_chr13_24675408_24717472 | 24708946 | A | AAAGAAAG others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG01070.hp1 others(6): Show |
a0001a0004 | a0001c0001a0001c0027a0004c0012 | a0001c0001t0001a0001c0001t0004a0001c0027t0001others(1): Show | a0001c0001t0001g0024a0001c0001t0001g0229a0001c0001t0001g0232others(5): Show | 9 | 382 | 0.0236 | 20 | c.249 others(37): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP12A_chr13_24675408_24717472 | 24708946 | A | AAAGAAAG others(13): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02723.hp2 HG02970.hp2 others(4): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0004others(2): Show | a0001c0001t0001g0069a0001c0003t0001g0055a0001c0003t0001g0184others(3): Show | 7 | 382 | 0.0183 | 20 | c.249 others(37): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP12A_chr13_24675408_24717472 | 24708946 | A | AAAGAAAG others(13): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01168.hp2 HG02300.hp2 others(1): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0005t0001 | a0001c0002t0001g0102a0001c0005t0001g0010a0001c0005t0001g0274 | 4 | 382 | 0.0105 | 20 | c.249 others(37): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP12A_chr13_24675408_24717472 | 24716709 | C | CCCACCCT others(13): Show |
downstream_gene_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0101 | 1 | 382 | 0.0026 | 20 | c.*51 others(31): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 4238 | chr13 | TogoVar | ||||||
ATP13A3_chr3_194397677_194492002 | 194409693 | A | ATTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0242 | 1 | 304 | 0.0033 | 20 | c.357 others(39): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 33/33 | chr3 | TogoVar | ||||||
ATP13A3_chr3_194397677_194492002 | 194417954 | C | CGGAAGGA others(13): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0176 | 1 | 304 | 0.0033 | 20 | c.340 others(39): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 31/33 | chr3 | TogoVar | ||||||
ATP13A3_chr3_194397677_194492002 | 194468386 | T | TAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0187a0001c0001t0007g0188 | 2 | 304 | 0.0066 | 20 | c.-46 others(37): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 2/33 | chr3 | TogoVar | ||||||
ATP13A4_chr3_193393967_193559895 | 193504020 | T | TGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01257.hp2 HG01978.hp1 others(7): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0004t0001others(4): Show | a0001c0001t0002g0288a0001c0001t0003g0301a0001c0004t0001g0286others(7): Show | 10 | 302 | 0.0331 | 20 | c.235 others(37): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 2/29 | chr3 | TogoVar | ||||||
ATP13A5_chr3_193269789_193383753 | 193270069 | A | AATACACA others(13): Show |
downstream_gene_variant | MODIFIER | NA19057.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0050 | 1 | 284 | 0.0035 | 20 | c.*49 others(31): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 4719 | chr3 | TogoVar | ||||||
ATP1B3_chr3_141871643_141931549 | 141874406 | C | CAAAAAAA others(13): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0103 | 1 | 408 | 0.0025 | 20 | c.-23 others(31): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 2236 | chr3 | TogoVar | ||||||
ATP1B3_chr3_141871643_141931549 | 141874436 | A | AATATATA others(13): Show |
upstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0081 | 1 | 408 | 0.0025 | 20 | c.-23 others(31): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 2206 | chr3 | TogoVar | ||||||
ATP1B3_chr3_141871643_141931549 | 141874438 | A | AAAATATA others(13): Show |
upstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0018 | 1 | 408 | 0.0025 | 20 | c.-23 others(31): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 2204 | chr3 | TogoVar | ||||||
ATP1B3_chr3_141871643_141931549 | 141877227 | A | ACCCCTGC others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(62): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0024a0001c0001t0001g0032a0001c0001t0001g0043others(62): Show | 65 | 408 | 0.1593 | 20 | c.109 others(35): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP2A2_chr12_110276247_110356093 | 110293850 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0005 | a0001c0005t0009 | a0001c0005t0009g0221 | 1 | 228 | 0.0044 | 20 | c.324 others(37): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATP2A3_chr17_3918873_3969437 | 3965877 | T | TTATTATT others(13): Show |
upstream_gene_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0005 | 1 | 332 | 0.0030 | 20 | c.-15 others(31): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 1441 | chr17 | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89643065 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03927.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0039a0001c0002t0001g0118 | 2 | 332 | 0.0060 | 20 | c.209 others(35): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 2/20 | chr12 | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89658598 | G | GGAGAGAG others(13): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02300.hp1 HG03139.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0012 | a0001c0001t0001g0197a0001c0001t0001g0284a0001c0001t0001g0305others(2): Show | 6 | 332 | 0.0181 | 20 | c.-22 others(39): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89658639 | G | GAGAGAGA others(13): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 332 | 0.0030 | 20 | c.-22 others(39): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89677954 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0111 | 1 | 332 | 0.0030 | 20 | c.-22 others(41): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89677954 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03540.hp1 HG03654.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0067a0001c0001t0001g0068a0001c0001t0001g0070others(12): Show | 15 | 332 | 0.0452 | 20 | c.-22 others(41): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89677971 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03139.hp2 |
a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0001 | 2 | 332 | 0.0060 | 20 | c.-22 others(41): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
ATP2B2_chr3_10319023_10510586 | 10471364 | C | CTGAGTGT others(13): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0178 | 1 | 290 | 0.0035 | 20 | c.-31 others(41): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
ATP2B2_chr3_10319023_10510586 | 10488463 | A | ATTCATTC others(13): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0013 | 1 | 290 | 0.0035 | 20 | c.-32 others(41): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
ATP2B2_chr3_10319023_10510586 | 10488511 | C | CTTCCTTC others(13): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0270 | 1 | 290 | 0.0035 | 20 | c.-32 others(41): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203686685 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02735.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0058 | a0001c0001t0001g0103a0001c0003t0058g0042 | 2 | 318 | 0.0063 | 20 | c.193 others(37): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP2B4_chr1_203621832_203749081 | 203719721 | T | TATAAATA others(13): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02258.hp2 HG02886.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0006a0001c0001t0029others(1): Show | a0001c0001t0002g0051a0001c0001t0002g0308a0001c0001t0006g0085others(2): Show | 5 | 318 | 0.0157 | 20 | c.240 others(37): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP2B4_chr1_203621832_203749081 | 203723420 | A | ATCTCTCT others(13): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0047 | 1 | 318 | 0.0031 | 20 | c.302 others(37): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP2B4_chr1_203621832_203749081 | 203744827 | T | TACACACA others(13): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 HG02717.hp2 HG02896.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0026a0001c0001t0028 | a0001c0001t0022g0136a0001c0001t0022g0150a0001c0001t0026g0257others(3): Show | 6 | 318 | 0.0189 | 20 | c.*49 others(31): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 747 | chr1 | TogoVar | ||||||
ATP2C1_chr3_130889084_131008150 | 130903700 | C | CCCTTTCC others(13): Show |
intron_variant | MODIFIER | HG02818.hp2 HG02895.hp2 HG03453.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002a0001c0001t0001g0081a0001c0001t0001g0082others(2): Show | 6 | 382 | 0.0157 | 20 | c.6+8 others(33): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP2C2_chr16_84363538_84469187 | 84379109 | C | CTTCCCCT others(13): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0142 | 1 | 432 | 0.0023 | 20 | c.99+ others(37): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ATP2C2_chr16_84363538_84469187 | 84383735 | C | CTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00733.hp2 HG01070.hp2 others(14): Show |
a0001a0002a0019 | a0001c0001a0001c0005a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(3): Show | a0001c0001t0001g0411a0001c0001t0002g0397a0001c0001t0002g0398others(14): Show | 17 | 432 | 0.0394 | 20 | c.100 others(39): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ATP2C2_chr16_84363538_84469187 | 84397655 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01361.hp2 HG01496.hp2 others(24): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0002a0001c0002t0002a0001c0003t0001others(12): Show | a0001c0001t0002g0228a0001c0001t0002g0229a0001c0001t0002g0311others(24): Show | 27 | 432 | 0.0625 | 20 | c.100 others(35): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ATP2C2_chr16_84363538_84469187 | 84424576 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0004 | a0004c0013 | a0004c0013t0001 | a0004c0013t0001g0390 | 1 | 432 | 0.0023 | 20 | c.920 others(37): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 10/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ATP2C2_chr16_84363538_84469187 | 84424599 | T | TTTTTTTT others(13): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0296 | 1 | 432 | 0.0023 | 20 | c.920 others(37): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 10/26 | chr16 | TogoVar | ||||||
ATP4A_chr19_35545031_35568658 | 35562515 | G | GGCACTGC others(13): Show |
frameshift_variant | HIGH | HG02135.hp1 | a0010 | a0010c0031 | a0010c0031t0001 | a0010c0031t0001g0183 | 1 | 426 | 0.0024 | 20 | c.320 others(27): Show |
p.Leu others(5): Show |
ATP4A | ENSG00000105675.9 | transcript | ENST00000262623.4 | protein_coding | 4/22 | 368/3721 | 339/3108 | 113/1035 | chr19 | TogoVar | ||
ATP5F1A_chr18_46075248_46103296 | 46094186 | C | CACACACA others(13): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0197 | 1 | 390 | 0.0026 | 20 | c.139 others(35): Show |
ATP5F1A | ENSG00000152234.16 | transcript | ENST00000398752.11 | protein_coding | 2/11 | chr18 | TogoVar | ||||||
ATP5MC1_chr17_48887787_48900871 | 48890144 | A | AAAAAGAA others(13): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00438.hp2 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0002a0001c0001t0002g0004a0001c0001t0003g0003 | 46 | 334 | 0.1377 | 20 | c.-27 others(31): Show |
ATP5MC1 | ENSG00000159199.14 | transcript | ENST00000393366.7 | protein_coding | 2642 | chr17 | TogoVar | ||||||
ATP5MC2_chr12_53660170_53681083 | 53664344 | A | AAAATAAA others(13): Show |
downstream_gene_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 418 | 0.0024 | 20 | c.*95 others(29): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 825 | chr12 | TogoVar |