| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ATP13A3_chr3_194397677_194492002 | 194410296 | C | CAAAAA | intron_variant | MODIFIER | HG00597.hp1 HG00621.hp2 HG00673.hp1 others(31): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(6): Show | a0001c0001t0001g0030a0001c0001t0001g0087a0001c0001t0001g0102others(31): Show | 34 | 304 | 0.1118 | 5 | c.357 others(24): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 33/33 | chr3 | TogoVar | ||||||
| ATP13A3_chr3_194397677_194492002 | 194421159 | A | ATAAAC | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02280.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0182a0001c0001t0007g0183a0001c0001t0007g0184others(5): Show | 8 | 304 | 0.0263 | 5 | c.331 others(24): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 30/33 | chr3 | TogoVar | ||||||
| ATP13A3_chr3_194397677_194492002 | 194476766 | G | GTTTTT | intron_variant | MODIFIER | HG00597.hp2 HG02074.hp2 HG02083.hp1 others(32): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(12): Show | a0001c0001t0001g0159a0001c0001t0005g0157a0001c0001t0006g0267others(32): Show | 35 | 304 | 0.1151 | 5 | c.-47 others(22): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 2/33 | chr3 | TogoVar | ||||||
| ATP13A3_chr3_194397677_194492002 | 194476770 | T | TTTTTG | intron_variant | MODIFIER | HG01884.hp1 HG01934.hp1 HG01975.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0012a0001c0001t0018others(3): Show | a0001c0001t0005g0043a0001c0001t0005g0047a0001c0001t0012g0034others(9): Show | 12 | 304 | 0.0395 | 5 | c.-47 others(22): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 2/33 | chr3 | TogoVar | ||||||
| ATP13A3_chr3_194397677_194492002 | 194476780 | T | TTTTTC | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02280.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0182a0001c0001t0007g0183a0001c0001t0007g0184others(5): Show | 8 | 304 | 0.0263 | 5 | c.-47 others(22): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 2/33 | chr3 | TogoVar | ||||||
| ATP13A4_chr3_193393967_193559895 | 193531317 | A | AGGGAG | intron_variant | MODIFIER | HG01071.hp1 HG02080.hp1 NA18939.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0004t0001a0001c0004t0003others(4): Show | a0001c0001t0001g0276a0001c0004t0001g0269a0001c0004t0001g0271others(16): Show | 19 | 302 | 0.0629 | 5 | c.61- others(22): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 1/29 | chr3 | TogoVar | ||||||
| ATP13A5_chr3_193269789_193383753 | 193279976 | T | TAAAAA | intron_variant | MODIFIER | HG01934.hp1 HG02559.hp1 HG02622.hp1 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0007a0001c0015a0002c0001others(2): Show | a0001c0007t0001a0001c0015t0002a0002c0001t0001others(3): Show | a0001c0007t0001g0155a0001c0007t0001g0176a0001c0015t0002g0242others(5): Show | 8 | 284 | 0.0282 | 5 | c.322 others(22): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 27/29 | chr3 | TogoVar | ||||||
| ATP13A5_chr3_193269789_193383753 | 193347524 | C | CTTTTT | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp1 HG00738.hp1 others(13): Show |
a0001a0009a0021others(1): Show | a0001c0006a0009c0034a0021c0033others(1): Show | a0001c0006t0001a0009c0034t0001a0021c0033t0001others(1): Show | a0001c0006t0001g0011a0001c0006t0001g0012a0001c0006t0001g0083others(11): Show | 16 | 284 | 0.0563 | 5 | c.742 others(22): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 7/29 | chr3 | TogoVar | ||||||
| ATP13A5_chr3_193269789_193383753 | 193353908 | G | GAACAA | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00558.hp1 others(167): Show |
a0001a0002a0003others(17): Show | a0001c0006a0001c0007a0001c0012others(22): Show | a0001c0006t0001a0001c0006t0002a0001c0007t0001others(27): Show | a0001c0006t0001g0005a0001c0006t0001g0011a0001c0006t0001g0012others(154): Show | 170 | 284 | 0.5986 | 5 | c.606 others(20): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 6/29 | chr3 | TogoVar | ||||||
| ATP13A5_chr3_193269789_193383753 | 193372312 | A | AAAAGG | intron_variant | MODIFIER | HG00423.hp1 HG00639.hp1 HG00735.hp2 others(58): Show |
a0001a0002a0003others(7): Show | a0001c0006a0001c0007a0001c0012others(10): Show | a0001c0006t0001a0001c0007t0001a0001c0012t0001others(11): Show | a0001c0006t0001g0099a0001c0006t0001g0100a0001c0006t0001g0182others(53): Show | 61 | 284 | 0.2148 | 5 | c.63+ others(20): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 1/29 | chr3 | TogoVar | ||||||
| ATP1A2_chr1_160110759_160148591 | 160119256 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(97): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0005a0001c0001t0001g0009a0001c0001t0001g0010others(76): Show | 100 | 414 | 0.2416 | 5 | c.13- others(20): Show |
ATP1A2 | ENSG00000018625.15 | transcript | ENST00000361216.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ATP1A2_chr1_160110759_160148591 | 160140846 | C | CTTTTT | intron_variant | MODIFIER | HG02258.hp2 HG02280.hp2 HG02809.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0008a0001c0004t0009a0001c0004t0012 | a0001c0001t0008g0221a0001c0001t0008g0266a0001c0004t0009g0032others(3): Show | 7 | 414 | 0.0169 | 5 | c.303 others(22): Show |
ATP1A2 | ENSG00000018625.15 | transcript | ENST00000361216.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ATP1B1_chr1_169101690_169137719 | 169135014 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00597.hp2 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0002g0030a0001c0001t0002g0124a0001c0001t0002g0130others(30): Show | 36 | 412 | 0.0874 | 5 | c.*34 others(16): Show |
ATP1B1 | ENSG00000143153.14 | transcript | ENST00000367815.9 | protein_coding | 2296 | chr1 | TogoVar | ||||||
| ATP1B3_chr3_141871643_141931549 | 141874438 | A | ATATAT | upstream_gene_variant | MODIFIER | HG00738.hp2 HG01109.hp1 HG01433.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0082a0001c0001t0001g0090others(3): Show | 7 | 408 | 0.0172 | 5 | c.-23 others(16): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 2204 | chr3 | TogoVar | ||||||
| ATP1B3_chr3_141871643_141931549 | 141879811 | C | CTTTTT | intron_variant | MODIFIER | HG00558.hp1 HG00673.hp1 HG01069.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0001g0107a0001c0001t0004g0339a0001c0001t0004g0340others(22): Show | 25 | 408 | 0.0613 | 5 | c.109 others(22): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ATP1B3_chr3_141871643_141931549 | 141882579 | A | ATTTTG | intron_variant | MODIFIER | NA18971.hp2 NA18972.hp2 NA18986.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0010a0001c0001t0004g0344a0001c0001t0004g0367 | 4 | 408 | 0.0098 | 5 | c.109 others(22): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ATP1B3_chr3_141871643_141931549 | 141889746 | A | ATATAT | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00642.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0016others(2): Show | a0001c0001t0002g0333a0001c0001t0002g0334a0001c0001t0004g0340others(23): Show | 26 | 408 | 0.0637 | 5 | c.109 others(24): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1/6 | chr3 | TogoVar | ||||||
| ATP1B3_chr3_141871643_141931549 | 141890088 | T | TTTTTC | intron_variant | MODIFIER | HG02055.hp1 HG02258.hp1 HG02451.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0008 | a0001c0001t0001g0095a0001c0001t0006g0093a0001c0001t0006g0097others(5): Show | 8 | 408 | 0.0196 | 5 | c.109 others(24): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ATP1B3_chr3_141871643_141931549 | 141904703 | C | CTTTTT | intron_variant | MODIFIER | HG00558.hp1 HG00673.hp1 HG01069.hp2 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0017 | a0001c0001t0004g0010a0001c0001t0004g0336a0001c0001t0004g0338others(34): Show | 38 | 408 | 0.0931 | 5 | c.238 others(20): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ATP1B3_chr3_141871643_141931549 | 141927015 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00544.hp2 others(66): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0045a0001c0001t0001g0080others(66): Show | 69 | 408 | 0.1691 | 5 | c.*13 others(16): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 467 | chr3 | TogoVar | ||||||
| ATP1B4_chrX_120357089_120388237 | 120374588 | A | ATATAT | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0028 | 2 | 353 | 0.0057 | 5 | c.563 others(20): Show |
ATP1B4 | ENSG00000101892.12 | transcript | ENST00000218008.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| ATP1B4_chrX_120357089_120388237 | 120385230 | T | TCCCCC | downstream_gene_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 | 1 | 353 | 0.0028 | 5 | c.*55 others(16): Show |
ATP1B4 | ENSG00000101892.12 | transcript | ENST00000218008.8 | protein_coding | 1994 | chrX | TogoVar | ||||||
| ATP2A1_chr16_28873488_28909466 | 28891589 | C | CAAAAA | intron_variant | MODIFIER | HG00741.hp1 HG01256.hp2 HG02165.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(3): Show | a0001c0001t0001g0109a0001c0001t0001g0173a0001c0001t0001g0187others(7): Show | 10 | 380 | 0.0263 | 5 | c.109 others(24): Show |
ATP2A1 | ENSG00000196296.14 | transcript | ENST00000395503.9 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| ATP2A2_chr12_110276247_110356093 | 110300116 | T | TCCCTC | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp1 HG02055.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(4): Show | a0001c0001t0001g0082a0001c0001t0001g0083a0001c0001t0001g0085others(24): Show | 27 | 228 | 0.1184 | 5 | c.463 others(22): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ATP2A2_chr12_110276247_110356093 | 110310658 | T | TTAACA | intron_variant | MODIFIER | HG00738.hp1 HG01069.hp2 HG03579.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0009 | a0001c0001t0001g0222a0001c0005t0009g0220a0001c0005t0009g0221 | 3 | 228 | 0.0132 | 5 | c.464 others(24): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ATP2A3_chr17_3918873_3969437 | 3965877 | T | TTATTA | upstream_gene_variant | MODIFIER | HG01081.hp1 HG01175.hp2 HG01243.hp2 others(6): Show |
a0001a0002 | a0001c0003a0001c0004a0001c0005others(3): Show | a0001c0003t0001a0001c0004t0001a0001c0005t0001others(5): Show | a0001c0003t0001g0113a0001c0004t0001g0035a0001c0005t0001g0023others(6): Show | 9 | 332 | 0.0271 | 5 | c.-15 others(16): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 1441 | chr17 | TogoVar | ||||||
| ATP2A3_chr17_3918873_3969437 | 3966363 | G | GTTTTT | upstream_gene_variant | MODIFIER | HG00597.hp2 HG01361.hp2 HG01891.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0035others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0019others(3): Show | a0001c0001t0001g0162a0001c0001t0006g0239a0001c0001t0019g0138others(3): Show | 6 | 332 | 0.0181 | 5 | c.-20 others(16): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 1927 | chr17 | TogoVar | ||||||
| ATP2B1_chr12_89583049_89713838 | 89598039 | C | CAAAAA | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG00642.hp2 others(32): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0076a0001c0001t0001g0093a0001c0001t0001g0094others(32): Show | 35 | 332 | 0.1054 | 5 | c.335 others(24): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 20/20 | chr12 | TogoVar | ||||||
| ATP2B2_chr3_10319023_10510586 | 10319795 | A | AGAGAG | downstream_gene_variant | MODIFIER | HG01106.hp1 HG01169.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0025a0001c0008t0010 | a0001c0001t0025g0154a0001c0008t0010g0039a0001c0008t0010g0120 | 3 | 290 | 0.0103 | 5 | c.*90 others(16): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 4227 | chr3 | TogoVar | ||||||
| ATP2B2_chr3_10319023_10510586 | 10382197 | A | ATTTTT | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00438.hp2 others(56): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(28): Show | a0001c0001t0002g0224a0001c0001t0004g0187a0001c0001t0006g0145others(55): Show | 59 | 290 | 0.2035 | 5 | c.100 others(24): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 8/22 | chr3 | TogoVar | ||||||
| ATP2B2_chr3_10319023_10510586 | 10392448 | G | GGGCAA | intron_variant | MODIFIER | HG02280.hp1 HG02486.hp2 HG03130.hp2 others(2): Show |
a0001 | a0001c0011 | a0001c0011t0007 | a0001c0011t0007g0001a0001c0011t0007g0020a0001c0011t0007g0031others(1): Show | 5 | 290 | 0.0172 | 5 | c.782 others(22): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 5/22 | chr3 | TogoVar | ||||||
| ATP2B2_chr3_10319023_10510586 | 10455694 | C | CCTGGA | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG02257.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0003a0001c0002t0002a0001c0002t0006others(8): Show | a0001c0001t0003g0135a0001c0001t0003g0141a0001c0002t0002g0048others(11): Show | 14 | 290 | 0.0483 | 5 | c.-31 others(24): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
| ATP2B3_chrX_153512642_153587929 | 153528593 | A | AGACCC | intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0016 | a0001c0016t0002 | a0001c0016t0002g0198 | 1 | 267 | 0.0038 | 5 | c.-12 others(24): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| ATP2B3_chrX_153512642_153587929 | 153550669 | T | TTTTTG | intron_variant | MODIFIER | NA18939.hp1 NA18975.hp1 NA19009.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0033others(1): Show | a0001c0001t0001g0217a0001c0001t0004g0040a0001c0001t0033g0214others(1): Show | 4 | 267 | 0.0150 | 5 | c.182 others(22): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| ATP2B3_chrX_153512642_153587929 | 153563136 | C | CTTTTT | intron_variant | MODIFIER | HG00423.hp1 HG01123.hp2 HG02015.hp1 others(11): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0026a0001c0001t0001g0125a0001c0001t0001g0167others(11): Show | 14 | 267 | 0.0524 | 5 | c.315 others(22): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| ATP2B3_chrX_153512642_153587929 | 153580055 | C | CTTCAT | frameshift_variant | HIGH | NA18982.hp1 | a0006 | a0006c0014 | a0006c0014t0036 | a0006c0014t0036g0001 | 1 | 267 | 0.0038 | 5 | c.342 others(14): Show |
p.Met others(6): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 22/22 | 3906/6774 | 3426/3663 | 1142/1220 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| ATP2B3_chrX_153512642_153587929 | 153586172 | T | TTTGTC | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp1 others(176): Show |
a0000a0001a0002others(4): Show | a0000c0008a0000c0018a0001c0001others(14): Show | a0000c0008t0021a0000c0018t0013a0001c0001t0001others(51): Show | a0000c0008t0021g0228a0000c0018t0013g0090a0001c0001t0001g0002others(162): Show | 179 | 267 | 0.6704 | 5 | c.*58 others(16): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 3244 | chrX | TogoVar | ||||||
| ATP2B4_chr1_203621832_203749081 | 203672324 | C | CTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00597.hp2 others(14): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0092a0001c0001t0001g0123a0001c0001t0001g0138others(14): Show | 17 | 318 | 0.0535 | 5 | c.-46 others(26): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ATP2B4_chr1_203621832_203749081 | 203678392 | C | CTTTTT | intron_variant | MODIFIER | HG00597.hp1 HG01943.hp2 HG02132.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0011 | a0001c0001t0003g0209a0001c0001t0004g0170a0001c0001t0004g0262others(3): Show | 6 | 318 | 0.0189 | 5 | c.-46 others(24): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ATP2B4_chr1_203621832_203749081 | 203686685 | C | CTTTTT | intron_variant | MODIFIER | HG01074.hp1 HG01099.hp1 HG01943.hp2 others(19): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(6): Show | a0001c0001t0002g0046a0001c0001t0002g0049a0001c0001t0002g0162others(19): Show | 22 | 318 | 0.0692 | 5 | c.193 others(22): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ATP2B4_chr1_203621832_203749081 | 203718264 | A | AATTTT | intron_variant | MODIFIER | HG01069.hp1 HG01069.hp2 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0030 | a0001c0001t0004g0237a0001c0001t0030g0036a0001c0001t0030g0037 | 3 | 318 | 0.0094 | 5 | c.240 others(24): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ATP2C1_chr3_130889084_131008150 | 130902547 | C | CATTTT | intron_variant | MODIFIER | HG01243.hp2 HG02717.hp2 HG02818.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0081a0001c0001t0001g0082others(5): Show | 9 | 382 | 0.0236 | 5 | c.6+7 others(18): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ATP2C1_chr3_130889084_131008150 | 130903700 | C | CCCTTT | intron_variant | MODIFIER | HG00597.hp2 HG00735.hp2 HG01081.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0064a0001c0001t0001g0065a0001c0001t0001g0066others(11): Show | 14 | 382 | 0.0367 | 5 | c.6+8 others(18): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ATP2C1_chr3_130889084_131008150 | 130940905 | A | ATTTTT | intron_variant | MODIFIER | HG01069.hp2 HG01255.hp1 HG01516.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137a0001c0001t0001g0138a0001c0001t0001g0140others(10): Show | 13 | 382 | 0.0340 | 5 | c.422 others(20): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 7/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ATP2C1_chr3_130889084_131008150 | 130970407 | C | CACACA | intron_variant | MODIFIER | HG01175.hp2 HG03927.hp1 NA19000.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127a0001c0001t0001g0243a0001c0001t0001g0366 | 3 | 382 | 0.0079 | 5 | c.141 others(24): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 17/27 | chr3 | TogoVar | ||||||
| ATP2C2_chr16_84363538_84469187 | 84370675 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG01255.hp1 others(6): Show |
a0001a0002a0005 | a0001c0002a0001c0003a0002c0006others(3): Show | a0001c0002t0001a0001c0003t0001a0002c0006t0001others(4): Show | a0001c0002t0001g0009a0001c0003t0001g0030a0001c0003t0001g0031others(6): Show | 9 | 432 | 0.0208 | 5 | c.99+ others(20): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| ATP2C2_chr16_84363538_84469187 | 84391113 | C | CAAAAA | intron_variant | MODIFIER | HG01433.hp2 HG02257.hp1 HG02258.hp2 others(7): Show |
a0001a0002a0004others(1): Show | a0001c0002a0001c0003a0002c0006others(3): Show | a0001c0002t0002a0001c0003t0001a0002c0006t0001others(3): Show | a0001c0002t0002g0140a0001c0002t0002g0352a0001c0003t0001g0137others(7): Show | 10 | 432 | 0.0232 | 5 | c.100 others(22): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| ATP2C2_chr16_84363538_84469187 | 84424599 | T | TTTTTA | intron_variant | MODIFIER | HG01258.hp1 HG01496.hp2 HG02257.hp1 others(7): Show |
a0001a0002a0004 | a0001c0003a0001c0005a0002c0008others(2): Show | a0001c0003t0001a0001c0005t0001a0001c0005t0002others(4): Show | a0001c0003t0001g0112a0001c0003t0001g0142a0001c0005t0001g0085others(7): Show | 10 | 432 | 0.0232 | 5 | c.920 others(22): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 10/26 | chr16 | TogoVar | ||||||
| ATP2C2_chr16_84363538_84469187 | 84444736 | A | AGCTGG | intron_variant | MODIFIER | HG00099.hp1 HG01192.hp1 HG01255.hp1 others(11): Show |
a0003a0005a0010others(2): Show | a0003c0012a0003c0025a0003c0038others(5): Show | a0003c0012t0001a0003c0025t0001a0003c0038t0001others(6): Show | a0003c0012t0001g0314a0003c0012t0001g0377a0003c0012t0001g0378others(11): Show | 14 | 432 | 0.0324 | 5 | c.140 others(24): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 15/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| ATP4A_chr19_35545031_35568658 | 35566049 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG02615.hp2 HG02965.hp1 HG03098.hp1 others(5): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0001a0001c0004t0001a0001c0005t0001 | a0001c0001t0001g0025a0001c0001t0001g0086a0001c0001t0001g0199others(3): Show | 8 | 426 | 0.0188 | 5 | c.-24 others(16): Show |
ATP4A | ENSG00000105675.9 | transcript | ENST00000262623.4 | protein_coding | 2392 | chr19 | TogoVar |