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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP1B3_chr3_141871643_141931549 | 141889756 | TACACAC | T | intron_variant | MODIFIER | HG00741.hp2 HG01257.hp2 HG01433.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0114a0001c0001t0001g0175a0001c0001t0001g0176others(8): Show | 11 | 408 | 0.0270 | -6 | c.109 others(25): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP1B3_chr3_141871643_141931549 | 141890285 | CTTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00733.hp1 HG01081.hp1 others(41): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0024a0001c0001t0001g0032a0001c0001t0001g0043others(41): Show | 44 | 408 | 0.1078 | -6 | c.110 others(25): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP1B4_chrX_120357089_120388237 | 120371137 | TAACTTC | T | conservative_inframe_deletion | MODERATE | HG01952.hp1 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0008 | 1 | 353 | 0.0028 | -6 | c.499 others(13): Show |
p.Phe others(13): Show |
ATP1B4 | ENSG00000101892.12 | transcript | ENST00000218008.8 | protein_coding | 4/8 | 579/4757 | 499/1074 | 167/357 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
ATP1B4_chrX_120357089_120388237 | 120374651 | ATATAAT | A | intron_variant | MODIFIER | HG02258.hp1 HG02622.hp2 HG02818.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0001g0048a0001c0001t0001g0170a0001c0001t0005g0049others(4): Show | 10 | 353 | 0.0283 | -6 | c.563 others(21): Show |
ATP1B4 | ENSG00000101892.12 | transcript | ENST00000218008.8 | protein_coding | 4/7 | chrX | TogoVar | ||||||
ATP2A1_chr16_28873488_28909466 | 28882100 | CTTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG00642.hp2 others(52): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0053others(32): Show | 55 | 380 | 0.1447 | -6 | c.325 others(21): Show |
ATP2A1 | ENSG00000196296.14 | transcript | ENST00000395503.9 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ATP2A1_chr16_28873488_28909466 | 28893412 | CAAAAAG | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(292): Show |
a0001a0002a0005others(5): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(13): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(247): Show | 295 | 380 | 0.7763 | -6 | c.109 others(23): Show |
ATP2A1 | ENSG00000196296.14 | transcript | ENST00000395503.9 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ATP2A1_chr16_28873488_28909466 | 28908999 | CTATATA | C | downstream_gene_variant | MODIFIER | HG03098.hp1 NA18951.hp1 NA18951.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107a0001c0001t0001g0182a0001c0001t0001g0270 | 3 | 380 | 0.0079 | -6 | c.*48 others(17): Show |
ATP2A1 | ENSG00000196296.14 | transcript | ENST00000395503.9 | protein_coding | 4534 | chr16 | TogoVar | ||||||
ATP2A2_chr12_110276247_110356093 | 110293826 | ATGTGTG | A | intron_variant | MODIFIER | HG02257.hp2 HG02717.hp2 NA18973.hp1 others(1): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0001t0018a0001c0001t0022others(1): Show | a0001c0001t0002g0056a0001c0001t0018g0025a0001c0001t0022g0142others(1): Show | 4 | 228 | 0.0175 | -6 | c.324 others(23): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATP2A2_chr12_110276247_110356093 | 110300643 | CTTTTTT | C | intron_variant | MODIFIER | HG01167.hp1 HG02280.hp1 HG02451.hp2 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0017others(1): Show | a0001c0001t0002g0056a0001c0001t0004g0004a0001c0001t0004g0168others(9): Show | 12 | 228 | 0.0526 | -6 | c.463 others(23): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATP2A2_chr12_110276247_110356093 | 110311595 | CAAAAAA | C | intron_variant | MODIFIER | HG00323.hp1 HG01361.hp2 HG02809.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011a0001c0001t0019 | a0001c0001t0002g0022a0001c0001t0002g0023a0001c0001t0002g0042others(11): Show | 14 | 228 | 0.0614 | -6 | c.464 others(25): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATP2A3_chr17_3918873_3969437 | 3936721 | TACACAC | T | intron_variant | MODIFIER | HG00423.hp1 HG02647.hp1 HG03098.hp1 others(2): Show |
a0001a0007 | a0001c0001a0001c0003a0001c0027others(1): Show | a0001c0001t0003a0001c0003t0003a0001c0003t0020others(2): Show | a0001c0001t0003g0212a0001c0003t0003g0107a0001c0003t0020g0111others(2): Show | 5 | 332 | 0.0151 | -6 | c.232 others(23): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 15/20 | chr17 | TogoVar | ||||||
ATP2A3_chr17_3918873_3969437 | 3940037 | TTTTTTG | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(44): Show |
a0001 | a0001c0002a0001c0004a0001c0008others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(17): Show | a0001c0002t0001g0128a0001c0002t0002g0119a0001c0002t0002g0120others(43): Show | 47 | 332 | 0.1416 | -6 | c.210 others(23): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 14/20 | chr17 | TogoVar | ||||||
ATP2A3_chr17_3918873_3969437 | 3958865 | TATATAC | T | intron_variant | MODIFIER | HG01099.hp2 HG01109.hp1 HG02257.hp1 others(15): Show |
a0001a0002 | a0001c0003a0001c0012a0001c0020others(3): Show | a0001c0003t0001a0001c0012t0001a0001c0012t0037others(5): Show | a0001c0003t0001g0113a0001c0012t0001g0039a0001c0012t0001g0040others(13): Show | 18 | 332 | 0.0542 | -6 | c.119 others(23): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 1/20 | chr17 | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89658598 | GGAGAGA | G | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01099.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(1): Show | a0001c0001t0001g0248a0001c0001t0001g0249a0001c0001t0001g0250others(6): Show | 9 | 332 | 0.0271 | -6 | c.-22 others(25): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89677954 | TTATATA | T | intron_variant | MODIFIER | HG01099.hp1 HG02027.hp2 HG02155.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0124a0001c0001t0001g0145a0001c0001t0001g0163others(17): Show | 20 | 332 | 0.0602 | -6 | c.-22 others(27): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89677967 | TATATAC | T | intron_variant | MODIFIER | HG02280.hp2 HG02809.hp2 HG02886.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0259a0001c0001t0001g0260a0001c0001t0001g0261others(2): Show | 5 | 332 | 0.0151 | -6 | c.-22 others(27): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89713603 | TTAAAAA | T | upstream_gene_variant | MODIFIER | HG01192.hp1 HG01884.hp1 HG02886.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0001a0001c0003t0021 | a0001c0001t0002g0053a0001c0003t0001g0050a0001c0003t0001g0051others(2): Show | 5 | 332 | 0.0151 | -6 | c.-52 others(17): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 4766 | chr12 | TogoVar | ||||||
ATP2B2_chr3_10319023_10510586 | 10320006 | GGAGAGA | G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00733.hp1 HG00735.hp2 others(53): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0009others(26): Show | a0001c0001t0003g0012a0001c0001t0003g0044a0001c0001t0003g0135others(53): Show | 56 | 290 | 0.1931 | -6 | c.*88 others(17): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 4016 | chr3 | TogoVar | ||||||
ATP2B2_chr3_10319023_10510586 | 10356149 | TGTGTGC | T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00438.hp1 others(47): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0015a0001c0001t0039others(20): Show | a0001c0001t0001g0168a0001c0001t0015g0108a0001c0001t0039g0069others(47): Show | 50 | 290 | 0.1724 | -6 | c.213 others(25): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 14/22 | chr3 | TogoVar | ||||||
ATP2B2_chr3_10319023_10510586 | 10356964 | TGAGAGA | T | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG02055.hp2 others(17): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0006a0001c0001t0011a0001c0003t0004others(13): Show | a0001c0001t0006g0145a0001c0001t0011g0051a0001c0003t0004g0194others(17): Show | 20 | 290 | 0.0690 | -6 | c.213 others(25): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 14/22 | chr3 | TogoVar | ||||||
ATP2B2_chr3_10319023_10510586 | 10390498 | TTGTGTG | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(125): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(49): Show | a0001c0001t0001g0007a0001c0001t0001g0021a0001c0001t0001g0063others(124): Show | 128 | 290 | 0.4414 | -6 | c.782 others(23): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 5/22 | chr3 | TogoVar | ||||||
ATP2B3_chrX_153512642_153587929 | 153512836 | ACACACT | A | upstream_gene_variant | MODIFIER | HG00735.hp2 HG02055.hp1 HG02451.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0010 | a0001c0001t0003a0001c0001t0051a0001c0003t0047others(2): Show | a0001c0001t0003g0212a0001c0001t0051g0017a0001c0003t0047g0100others(2): Show | 5 | 267 | 0.0187 | -6 | c.-52 others(17): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 4805 | chrX | TogoVar | ||||||
ATP2B3_chrX_153512642_153587929 | 153524238 | CTGTGTG | C | intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0017 | a0001c0017t0048 | a0001c0017t0048g0049 | 1 | 267 | 0.0038 | -6 | c.-12 others(25): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP2B3_chrX_153512642_153587929 | 153571002 | GTACACA | G | intron_variant | MODIFIER | HG01884.hp1 HG02451.hp2 HG02622.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0016a0001c0001t0049a0001c0002t0001others(1): Show | a0001c0001t0016g0186a0001c0001t0049g0083a0001c0002t0001g0077others(1): Show | 4 | 267 | 0.0150 | -6 | c.334 others(25): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 21/21 | chrX | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203626272 | GGTGTGT | G | upstream_gene_variant | MODIFIER | HG00673.hp2 HG01243.hp2 HG01978.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0062a0001c0001t0001g0073a0001c0001t0001g0084others(17): Show | 20 | 318 | 0.0629 | -6 | c.-14 others(17): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 559 | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203630365 | CTCTCTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(175): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(49): Show | a0001c0001t0001g0016a0001c0001t0001g0055a0001c0001t0001g0057others(175): Show | 178 | 318 | 0.5598 | -6 | c.-46 others(25): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP2B4_chr1_203621832_203749081 | 203653960 | AATATAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(154): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(54): Show | a0001c0001t0001g0055a0001c0001t0001g0068a0001c0001t0001g0072others(153): Show | 157 | 318 | 0.4937 | -6 | c.-46 others(27): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP2B4_chr1_203621832_203749081 | 203653981 | ATATATT | A | intron_variant | MODIFIER | HG00438.hp2 HG01943.hp2 HG02071.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0039a0001c0001t0001g0040others(3): Show | 6 | 318 | 0.0189 | -6 | c.-46 others(27): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP2B4_chr1_203621832_203749081 | 203687994 | GATTATT | G | intron_variant | MODIFIER | HG02074.hp1 HG02074.hp2 HG02257.hp2 others(10): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0005a0001c0001t0001g0076a0001c0001t0001g0101others(10): Show | 13 | 318 | 0.0409 | -6 | c.193 others(23): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP2B4_chr1_203621832_203749081 | 203703164 | CGAGAGA | C | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00597.hp1 others(121): Show |
a0001a0007 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0016others(120): Show | 124 | 318 | 0.3899 | -6 | c.938 others(21): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP2C1_chr3_130889084_131008150 | 130889638 | CTTTTTT | C | upstream_gene_variant | MODIFIER | HG00597.hp2 HG00735.hp2 HG01081.hp2 others(31): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0008 | a0001c0001t0001g0325a0001c0001t0001g0337a0001c0001t0001g0340others(31): Show | 34 | 382 | 0.0890 | -6 | c.-48 others(17): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 4445 | chr3 | TogoVar | ||||||
ATP2C1_chr3_130889084_131008150 | 130941223 | AGTGTGT | A | intron_variant | MODIFIER | HG02027.hp1 HG02293.hp2 HG02615.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0008 | a0001c0001t0001g0022a0001c0001t0001g0023a0001c0001t0001g0080others(16): Show | 19 | 382 | 0.0497 | -6 | c.423 others(21): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 7/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP2C1_chr3_130889084_131008150 | 131006635 | TTGTGTG | T | downstream_gene_variant | MODIFIER | HG00597.hp1 HG00733.hp1 HG00741.hp2 others(33): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0014a0001c0001t0001g0108a0001c0001t0001g0113others(33): Show | 36 | 382 | 0.0942 | -6 | c.*52 others(17): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 3486 | chr3 | TogoVar | ||||||
ATP2C2_chr16_84363538_84469187 | 84407127 | TTACATG | T | intron_variant | MODIFIER | HG00639.hp2 HG01167.hp1 HG01169.hp2 others(4): Show |
a0001a0002a0004 | a0001c0003a0001c0005a0002c0004others(2): Show | a0001c0003t0001a0001c0005t0002a0002c0004t0001others(2): Show | a0001c0003t0001g0048a0001c0005t0002g0075a0001c0005t0002g0392others(4): Show | 7 | 432 | 0.0162 | -6 | c.328 others(23): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ATP2C2_chr16_84363538_84469187 | 84412508 | CTGTGTG | C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00423.hp1 others(67): Show |
a0001a0002a0014others(3): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0329a0001c0001t0001g0419a0001c0001t0002g0186others(67): Show | 70 | 432 | 0.1620 | -6 | c.515 others(23): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 6/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ATP2C2_chr16_84363538_84469187 | 84424305 | GTCTCAC | G | intron_variant | MODIFIER | HG01891.hp2 HG02451.hp1 HG02559.hp1 others(2): Show |
a0001a0002 | a0001c0018a0002c0007 | a0001c0018t0002a0002c0007t0001 | a0001c0018t0002g0046a0002c0007t0001g0214a0002c0007t0001g0220others(2): Show | 5 | 432 | 0.0116 | -6 | c.919 others(23): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 10/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ATP2C2_chr16_84363538_84469187 | 84424576 | CTTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(102): Show |
a0001a0002a0008others(3): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0313a0001c0001t0001g0391a0001c0001t0001g0411others(102): Show | 105 | 432 | 0.2431 | -6 | c.920 others(23): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 10/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ATP2C2_chr16_84363538_84469187 | 84444162 | CAAAAAA | C | intron_variant | MODIFIER | HG00423.hp2 HG00597.hp1 HG00673.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0002t0003a0001c0002t0007others(8): Show | a0001c0001t0002g0297a0001c0001t0002g0311a0001c0002t0003g0099others(13): Show | 16 | 432 | 0.0370 | -6 | c.140 others(25): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 15/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ATP2C2_chr16_84363538_84469187 | 84444179 | AAAAAAC | A | intron_variant | MODIFIER | HG01361.hp2 HG01993.hp2 NA18948.hp1 others(3): Show |
a0003a0027 | a0003c0012a0003c0025a0003c0038others(1): Show | a0003c0012t0001a0003c0025t0001a0003c0038t0001others(1): Show | a0003c0012t0001g0377a0003c0012t0001g0378a0003c0012t0001g0383others(3): Show | 6 | 432 | 0.0139 | -6 | c.140 others(25): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 15/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ATP5F1A_chr18_46075248_46103296 | 46092180 | AAATAAT | A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00544.hp1 others(104): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0003others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(34): Show | a0001c0001t0002g0001a0001c0001t0002g0017a0001c0001t0002g0018others(64): Show | 107 | 390 | 0.2744 | -6 | c.140 others(21): Show |
ATP5F1A | ENSG00000152234.16 | transcript | ENST00000398752.11 | protein_coding | 2/11 | chr18 | TogoVar | ||||||
ATP5F1A_chr18_46075248_46103296 | 46092617 | TTATATA | T | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00544.hp1 others(109): Show |
a0001a0004 | a0001c0001a0001c0004a0004c0006 | a0001c0001t0002a0001c0001t0008a0001c0001t0009others(35): Show | a0001c0001t0002g0001a0001c0001t0002g0017a0001c0001t0002g0018others(69): Show | 112 | 390 | 0.2872 | -6 | c.140 others(21): Show |
ATP5F1A | ENSG00000152234.16 | transcript | ENST00000398752.11 | protein_coding | 2/11 | chr18 | TogoVar | ||||||
ATP5F1B_chr12_56633175_56650984 | 56644120 | TCTAACC | T | intron_variant | MODIFIER | HG01106.hp1 HG02602.hp2 HG02735.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027a0001c0001t0001g0037 | 3 | 390 | 0.0077 | -6 | c.486 others(21): Show |
ATP5F1B | ENSG00000110955.9 | transcript | ENST00000262030.8 | protein_coding | 3/9 | chr12 | TogoVar | ||||||
ATP5IF1_chr1_28231124_28243100 | 28234637 | CCTTTTT | C | upstream_gene_variant | MODIFIER | HG02683.hp1 HG02735.hp2 NA18954.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 3 | 360 | 0.0083 | -6 | c.-15 others(17): Show |
ATP5IF1 | ENSG00000130770.18 | transcript | ENST00000335514.10 | protein_coding | 1486 | chr1 | TogoVar | ||||||
ATP5MC2_chr12_53660170_53681083 | 53667948 | TACACAC | T | intron_variant | MODIFIER | NA18947.hp1 NA18965.hp1 NA19080.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0026 | 3 | 418 | 0.0072 | -6 | c.311 others(23): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 4/4 | chr12 | TogoVar | ||||||
ATP5MC2_chr12_53660170_53681083 | 53667952 | CACACAT | C | intron_variant | MODIFIER | HG00738.hp1 HG01981.hp2 HG03195.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034a0001c0001t0001g0185 | 4 | 418 | 0.0096 | -6 | c.311 others(23): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 4/4 | chr12 | TogoVar | ||||||
ATP5MC2_chr12_53660170_53681083 | 53679238 | CGAGAGA | C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00544.hp1 others(83): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(50): Show | 86 | 418 | 0.2057 | -6 | c.-32 others(17): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 3156 | chr12 | TogoVar | ||||||
ATP5MF_chr7_99453195_99471167 | 99466717 | CTTTTTT | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG01081.hp2 HG01891.hp1 others(11): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0002a0003c0004t0002 | a0001c0001t0002g0013a0001c0001t0002g0014a0001c0001t0002g0022others(8): Show | 14 | 346 | 0.0405 | -6 | c.-58 others(15): Show |
ATP5MF | ENSG00000241468.8 | transcript | ENST00000292475.8 | protein_coding | 551 | chr7 | TogoVar | ||||||
ATP5MJ_chr14_103907288_103926529 | 103914862 | AGAAAAG | A | intron_variant | MODIFIER | HG01099.hp1 HG02572.hp2 HG02622.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0072a0003c0003t0001g0022a0003c0003t0001g0027 | 6 | 440 | 0.0136 | -6 | c.124 others(21): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 2/3 | chr14 | TogoVar | ||||||
ATP5MJ_chr14_103907288_103926529 | 103924453 | TCACACA | T | upstream_gene_variant | MODIFIER | HG01081.hp1 HG01891.hp1 HG02258.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0011a0001c0001t0001g0064a0002c0002t0001g0013others(2): Show | 9 | 440 | 0.0205 | -6 | c.-29 others(17): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 2925 | chr14 | TogoVar | ||||||
ATP5PB_chr1_111444464_111467773 | 111466580 | TGTTTAA | T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG01256.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 3 | 434 | 0.0069 | -6 | c.*55 others(17): Show |
ATP5PB | ENSG00000116459.11 | transcript | ENST00000369722.8 | protein_coding | 3808 | chr1 | TogoVar |