| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ATP1B1_chr1_169101690_169137719 | 169133274 | A | ATAAT | downstream_gene_variant | MODIFIER | HG02451.hp2 HG03139.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0251a0001c0001t0008g0277a0001c0001t0008g0311 | 3 | 412 | 0.0073 | 4 | c.*17 others(15): Show |
ATP1B1 | ENSG00000143153.14 | transcript | ENST00000367815.9 | protein_coding | 556 | chr1 | TogoVar | ||||||
| ATP1B1_chr1_169101690_169137719 | 169135014 | C | CAAAA | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00738.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0002g0155a0001c0001t0002g0256a0001c0001t0003g0004others(18): Show | 25 | 412 | 0.0607 | 4 | c.*34 others(15): Show |
ATP1B1 | ENSG00000143153.14 | transcript | ENST00000367815.9 | protein_coding | 2296 | chr1 | TogoVar | ||||||
| ATP1B3_chr3_141871643_141931549 | 141874438 | A | AATAT | upstream_gene_variant | MODIFIER | HG04184.hp2 NA18522.hp2 NA18906.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0397a0001c0001t0001g0398a0001c0001t0002g0110others(3): Show | 6 | 408 | 0.0147 | 4 | c.-23 others(15): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 2204 | chr3 | TogoVar | ||||||
| ATP1B3_chr3_141871643_141931549 | 141874464 | T | TACAC | upstream_gene_variant | MODIFIER | HG02809.hp2 HG03516.hp1 NA19240.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0020a0001c0002t0001g0305a0001c0002t0001g0306 | 3 | 408 | 0.0074 | 4 | c.-23 others(15): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 2178 | chr3 | TogoVar | ||||||
| ATP1B3_chr3_141871643_141931549 | 141874779 | C | CTTTT | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02622.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0001a0001c0001t0001g0141a0001c0001t0001g0168others(8): Show | 11 | 408 | 0.0270 | 4 | c.-20 others(15): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1863 | chr3 | TogoVar | ||||||
| ATP1B3_chr3_141871643_141931549 | 141879811 | C | CTTTT | intron_variant | MODIFIER | HG00544.hp1 HG00642.hp2 HG01109.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0242a0001c0001t0001g0243a0001c0001t0003g0298others(31): Show | 35 | 408 | 0.0858 | 4 | c.109 others(21): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ATP1B3_chr3_141871643_141931549 | 141885880 | A | AACAC | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00639.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0115a0001c0001t0001g0123a0001c0001t0001g0124others(19): Show | 22 | 408 | 0.0539 | 4 | c.109 others(21): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ATP1B3_chr3_141871643_141931549 | 141889728 | C | CAAAA | intron_variant | MODIFIER | HG00738.hp2 HG02486.hp2 HG02622.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0082a0001c0001t0001g0083others(3): Show | 7 | 408 | 0.0172 | 4 | c.109 others(23): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ATP1B3_chr3_141871643_141931549 | 141889756 | T | TACAC | intron_variant | MODIFIER | HG00673.hp1 HG01243.hp1 NA18963.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0135a0001c0001t0001g0136others(12): Show | 16 | 408 | 0.0392 | 4 | c.109 others(23): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ATP1B3_chr3_141871643_141931549 | 141889830 | C | CATAT | intron_variant | MODIFIER | HG02970.hp1 NA18522.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0397a0001c0001t0001g0398a0001c0001t0002g0394 | 3 | 408 | 0.0074 | 4 | c.109 others(23): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ATP1B3_chr3_141871643_141931549 | 141890089 | T | TTTTC | intron_variant | MODIFIER | HG01884.hp2 HG02615.hp2 HG02809.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0092a0001c0001t0006g0096a0001c0001t0006g0098others(3): Show | 6 | 408 | 0.0147 | 4 | c.109 others(23): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ATP1B3_chr3_141871643_141931549 | 141904703 | C | CTTTT | intron_variant | MODIFIER | HG01517.hp1 HG02486.hp2 HG02735.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0088a0001c0001t0002g0086a0001c0001t0004g0337others(4): Show | 7 | 408 | 0.0172 | 4 | c.238 others(19): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ATP1B3_chr3_141871643_141931549 | 141907347 | C | CGGTA | intron_variant | MODIFIER | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(67): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0024a0001c0001t0001g0032a0001c0001t0001g0043others(67): Show | 70 | 408 | 0.1716 | 4 | c.346 others(17): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ATP1B3_chr3_141871643_141931549 | 141927015 | C | CAAAA | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(113): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(109): Show | 116 | 408 | 0.2843 | 4 | c.*13 others(15): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 467 | chr3 | TogoVar | ||||||
| ATP1B4_chrX_120357089_120388237 | 120374707 | T | TATAC | intron_variant | MODIFIER | HG02258.hp1 HG02622.hp2 HG02818.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0001g0048a0001c0001t0001g0170a0001c0001t0005g0049others(4): Show | 10 | 353 | 0.0283 | 4 | c.563 others(19): Show |
ATP1B4 | ENSG00000101892.12 | transcript | ENST00000218008.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| ATP1B4_chrX_120357089_120388237 | 120374749 | G | GTATA | intron_variant | MODIFIER | HG00323.hp1 HG01257.hp1 HG01258.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0015a0001c0001t0003g0051 | 6 | 353 | 0.0170 | 4 | c.563 others(19): Show |
ATP1B4 | ENSG00000101892.12 | transcript | ENST00000218008.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| ATP1B4_chrX_120357089_120388237 | 120374762 | T | TATTA | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG00735.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0021 | a0001c0001t0002g0010a0001c0001t0002g0196a0001c0001t0021g0010 | 7 | 353 | 0.0198 | 4 | c.563 others(19): Show |
ATP1B4 | ENSG00000101892.12 | transcript | ENST00000218008.8 | protein_coding | 4/7 | chrX | TogoVar | ||||||
| ATP23_chr12_57936567_57964148 | 57943981 | C | CTTTT | intron_variant | MODIFIER | HG00423.hp1 HG01928.hp2 HG01978.hp1 others(4): Show |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0011a0002c0001t0002g0085 | 7 | 393 | 0.0178 | 4 | c.188 others(21): Show |
ATP23 | ENSG00000166896.9 | transcript | ENST00000300145.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ATP23_chr12_57936567_57964148 | 57954194 | C | CAAAA | intron_variant | MODIFIER | HG01256.hp1 HG01258.hp1 HG01361.hp2 others(14): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0002a0001c0003t0007others(2): Show | a0001c0003t0001g0008a0001c0003t0001g0009a0001c0003t0001g0096others(5): Show | 17 | 393 | 0.0433 | 4 | c.537 others(19): Show |
ATP23 | ENSG00000166896.9 | transcript | ENST00000300145.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ATP2A2_chr12_110276247_110356093 | 110293385 | T | TTTTG | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG02109.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032a0001c0001t0001g0033a0001c0001t0001g0034others(3): Show | 6 | 228 | 0.0263 | 4 | c.324 others(21): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ATP2A2_chr12_110276247_110356093 | 110293826 | A | ATGTG | intron_variant | MODIFIER | HG00558.hp1 HG00738.hp2 HG01081.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0031others(26): Show | 29 | 228 | 0.1272 | 4 | c.324 others(21): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ATP2A2_chr12_110276247_110356093 | 110300092 | G | GTCCT | intron_variant | MODIFIER | HG01943.hp1 HG02647.hp2 HG02809.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0027a0001c0001t0006g0012a0001c0001t0006g0013others(4): Show | 7 | 228 | 0.0307 | 4 | c.463 others(21): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ATP2A2_chr12_110276247_110356093 | 110309140 | A | ATTTT | intron_variant | MODIFIER | HG00423.hp1 HG02055.hp1 HG02486.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0023others(1): Show | a0001c0001t0001g0091a0001c0001t0001g0218a0001c0001t0002g0023others(6): Show | 9 | 228 | 0.0395 | 4 | 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 | C | CAAAA | intron_variant | MODIFIER | HG01074.hp2 HG01081.hp2 HG01123.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0028others(3): Show | a0001c0001t0001g0205a0001c0001t0003g0179a0001c0001t0003g0180others(13): Show | 16 | 228 | 0.0702 | 4 | c.464 others(23): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ATP2A2_chr12_110276247_110356093 | 110347102 | C | CATCA | 3_prime_UTR_variant | MODIFIER | HG00323.hp1 HG01081.hp1 HG01099.hp1 others(44): Show |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0002a0001c0001t0004a0001c0001t0011others(8): Show | a0001c0001t0002g0005a0001c0001t0002g0022a0001c0001t0002g0023others(44): Show | 47 | 228 | 0.2061 | 4 | c.*63 others(13): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 20/20 | 637 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||
| ATP2A3_chr17_3918873_3969437 | 3936721 | T | TACAC | intron_variant | MODIFIER | HG01433.hp2 HG02055.hp1 HG02109.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0007others(7): Show | a0001c0001t0001g0261a0001c0002t0002g0122a0001c0002t0007g0132others(9): Show | 12 | 332 | 0.0361 | 4 | c.232 others(21): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 15/20 | chr17 | TogoVar | ||||||
| ATP2A3_chr17_3918873_3969437 | 3958701 | C | CATAT | intron_variant | MODIFIER | HG01070.hp2 HG01515.hp2 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173a0001c0001t0001g0174a0001c0001t0001g0175 | 3 | 332 | 0.0090 | 4 | c.119 others(21): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 1/20 | chr17 | TogoVar | ||||||
| ATP2A3_chr17_3918873_3969437 | 3958887 | C | CATAT | intron_variant | MODIFIER | HG00735.hp2 HG01192.hp2 HG01346.hp1 others(2): Show |
a0001 | a0001c0002a0001c0007a0001c0038 | a0001c0002t0004a0001c0002t0008a0001c0007t0001others(1): Show | a0001c0002t0004g0135a0001c0002t0008g0134a0001c0002t0008g0136others(2): Show | 5 | 332 | 0.0151 | 4 | c.119 others(21): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 1/20 | chr17 | TogoVar | ||||||
| ATP2B1_chr12_89583049_89713838 | 89583790 | C | CGGGG | downstream_gene_variant | MODIFIER | HG00558.hp2 HG01071.hp2 HG01361.hp1 others(18): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(2): Show | a0001c0001t0001g0069a0001c0001t0001g0072a0001c0001t0001g0094others(18): Show | 21 | 332 | 0.0633 | 4 | c.*71 others(15): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 4258 | chr12 | TogoVar | ||||||
| ATP2B1_chr12_89583049_89713838 | 89598039 | C | CAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(120): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0002a0001c0001t0001g0029a0001c0001t0001g0036others(119): Show | 123 | 332 | 0.3705 | 4 | c.335 others(23): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 20/20 | chr12 | TogoVar | ||||||
| ATP2B1_chr12_89583049_89713838 | 89638059 | T | TCCTA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(306): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0002a0001c0001t0001g0029a0001c0001t0001g0036others(304): Show | 309 | 332 | 0.9307 | 4 | c.407 others(21): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 3/20 | chr12 | TogoVar | ||||||
| ATP2B1_chr12_89583049_89713838 | 89658598 | G | GGAGA | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp2 HG01168.hp1 others(36): Show |
a0001 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0064a0001c0001t0001g0068a0001c0001t0001g0069others(36): Show | 39 | 332 | 0.1175 | 4 | c.-22 others(23): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
| ATP2B1_chr12_89583049_89713838 | 89659357 | A | AACAC | intron_variant | MODIFIER | HG00639.hp1 HG01109.hp2 HG01978.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0020a0001c0002t0001others(2): Show | a0001c0001t0001g0077a0001c0001t0001g0098a0001c0001t0001g0269others(7): Show | 10 | 332 | 0.0301 | 4 | c.-22 others(23): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
| ATP2B1_chr12_89583049_89713838 | 89663884 | C | CTGTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(320): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0002a0001c0001t0001g0029a0001c0001t0001g0036others(318): Show | 323 | 332 | 0.9729 | 4 | c.-22 others(23): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
| ATP2B1_chr12_89583049_89713838 | 89677965 | T | TACAC | intron_variant | MODIFIER | HG00544.hp2 HG03831.hp2 NA18955.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0019 | a0001c0001t0001g0133a0001c0001t0008g0212a0001c0001t0019g0206 | 3 | 332 | 0.0090 | 4 | c.-22 others(25): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
| ATP2B2_chr3_10319023_10510586 | 10320006 | G | GGAGA | downstream_gene_variant | MODIFIER | HG02015.hp1 HG03491.hp1 HG03516.hp2 |
a0001 | a0001c0006a0001c0007a0001c0030 | a0001c0006t0002a0001c0007t0001a0001c0030t0042 | a0001c0006t0002g0169a0001c0007t0001g0285a0001c0030t0042g0167 | 3 | 290 | 0.0103 | 4 | c.*88 others(15): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 4016 | chr3 | TogoVar | ||||||
| ATP2B2_chr3_10319023_10510586 | 10321693 | A | AATCT | downstream_gene_variant | MODIFIER | HG00099.hp2 HG02071.hp2 HG02451.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0011a0001c0003t0016a0001c0004t0002others(6): Show | a0001c0001t0011g0051a0001c0003t0016g0129a0001c0004t0002g0126others(7): Show | 10 | 290 | 0.0345 | 4 | c.*71 others(15): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 2329 | chr3 | TogoVar | ||||||
| ATP2B2_chr3_10319023_10510586 | 10356147 | C | CGTGT | intron_variant | MODIFIER | HG01109.hp2 HG01981.hp2 HG02055.hp2 others(12): Show |
a0001 | a0001c0001a0001c0003a0001c0009others(6): Show | a0001c0001t0001a0001c0001t0015a0001c0003t0007others(7): Show | a0001c0001t0001g0146a0001c0001t0015g0163a0001c0003t0007g0192others(11): Show | 15 | 290 | 0.0517 | 4 | c.213 others(23): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 14/22 | chr3 | TogoVar | ||||||
| ATP2B2_chr3_10319023_10510586 | 10356964 | T | TGAGA | intron_variant | MODIFIER | HG03195.hp2 HG06807.hp2 NA19012.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(2): Show | a0001c0001t0001g0227a0001c0001t0002g0027a0001c0002t0002g0048others(2): Show | 5 | 290 | 0.0172 | 4 | c.213 others(23): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 14/22 | chr3 | TogoVar | ||||||
| ATP2B2_chr3_10319023_10510586 | 10379787 | C | CAGAG | intron_variant | MODIFIER | HG00099.hp2 HG00733.hp2 HG00735.hp1 others(21): Show |
a0001 | a0001c0006a0001c0008a0001c0023others(3): Show | a0001c0006t0001a0001c0006t0002a0001c0006t0003others(7): Show | a0001c0006t0001g0088a0001c0006t0001g0171a0001c0006t0001g0231others(21): Show | 24 | 290 | 0.0828 | 4 | c.100 others(21): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 8/22 | chr3 | TogoVar | ||||||
| ATP2B2_chr3_10319023_10510586 | 10381975 | G | GGGCT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(218): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(95): Show | a0001c0001t0001g0007a0001c0001t0001g0021a0001c0001t0001g0063others(217): Show | 221 | 290 | 0.7621 | 4 | c.100 others(23): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 8/22 | chr3 | TogoVar | ||||||
| ATP2B2_chr3_10319023_10510586 | 10382197 | A | ATTTT | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02258.hp2 others(32): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0010a0001c0001t0055a0001c0002t0002others(23): Show | a0001c0001t0010g0286a0001c0001t0055g0207a0001c0002t0002g0048others(32): Show | 35 | 290 | 0.1207 | 4 | c.100 others(23): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 8/22 | chr3 | TogoVar | ||||||
| ATP2B2_chr3_10319023_10510586 | 10390498 | T | TTGTG | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01175.hp2 others(2): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0003a0001c0002t0019a0001c0003t0004 | a0001c0002t0003g0162a0001c0002t0019g0002a0001c0002t0019g0210others(1): Show | 5 | 290 | 0.0172 | 4 | c.782 others(21): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 5/22 | chr3 | TogoVar | ||||||
| ATP2B2_chr3_10319023_10510586 | 10486328 | T | TGTGC | intron_variant | MODIFIER | HG01074.hp1 HG01243.hp2 HG01433.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(10): Show | a0001c0001t0001g0142a0001c0001t0003g0012a0001c0001t0006g0145others(11): Show | 14 | 290 | 0.0483 | 4 | c.-32 others(25): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
| ATP2B2_chr3_10319023_10510586 | 10488202 | T | TATCC | intron_variant | MODIFIER | HG02886.hp1 HG02965.hp1 HG03471.hp1 |
a0001 | a0001c0002a0001c0008 | a0001c0002t0006a0001c0008t0002a0001c0008t0005 | a0001c0002t0006g0005a0001c0008t0002g0242a0001c0008t0005g0123 | 3 | 290 | 0.0103 | 4 | c.-32 others(25): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
| ATP2B2_chr3_10319023_10510586 | 10488288 | T | TCCAC | intron_variant | MODIFIER | HG00099.hp2 HG00597.hp2 HG00639.hp2 others(48): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0017others(30): Show | a0001c0001t0003g0135a0001c0001t0003g0141a0001c0001t0003g0198others(48): Show | 51 | 290 | 0.1759 | 4 | c.-32 others(25): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
| ATP2B2_chr3_10319023_10510586 | 10488463 | A | ATTCC | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG00639.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0036others(15): Show | a0001c0001t0001g0142a0001c0001t0003g0044a0001c0001t0036g0009others(19): Show | 23 | 290 | 0.0793 | 4 | c.-32 others(25): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
| ATP2B2_chr3_10319023_10510586 | 10488511 | C | CTTCG | intron_variant | MODIFIER | HG00642.hp1 HG00733.hp2 HG01168.hp2 others(46): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0090a0001c0001t0001g0130a0001c0001t0001g0260others(45): Show | 49 | 290 | 0.1690 | 4 | c.-32 others(25): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
| ATP2B3_chrX_153512642_153587929 | 153524238 | C | CTGTG | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0242 | 1 | 267 | 0.0038 | 4 | c.-12 others(23): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| ATP2B3_chrX_153512642_153587929 | 153541436 | A | AAACC | frameshift_variant | HIGH | NA18962.hp1 | a0007 | a0007c0023 | a0007c0023t0001 | a0007c0023t0001g0097 | 1 | 267 | 0.0038 | 4 | c.287 others(11): Show |
p.Thr others(4): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 4/22 | 768/6774 | 288/3663 | 96/1220 | INFO_REALIGN_3_PRIME | chrX | TogoVar |