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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP10B_chr5_160558120_160857211 | 160755839 | ATATATAT | A | intron_variant | MODIFIER | HG01261.hp1 HG03704.hp1 |
a0001 | a0001c0001a0001c0033 | a0001c0001t0002a0001c0033t0016 | a0001c0001t0002g0206a0001c0033t0016g0210 | 2 | 236 | 0.0085 | -7 | c.-33 others(28): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 2/25 | chr5 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160785429 | GTTCTGTT | G | intron_variant | MODIFIER | HG02145.hp1 HG02886.hp1 HG03540.hp1 |
a0001a0009 | a0001c0001a0001c0006a0009c0018 | a0001c0001t0023a0001c0006t0020a0009c0018t0021 | a0001c0001t0023g0027a0001c0006t0020g0184a0009c0018t0021g0205 | 3 | 236 | 0.0127 | -7 | c.-33 others(24): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 2/25 | chr5 | TogoVar | ||||||
ATP10D_chr4_47480275_47598486 | 47496156 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp2 others(93): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0003a0001c0016others(19): Show | a0001c0001t0003a0001c0001t0004a0001c0003t0001others(29): Show | a0001c0001t0003g0010a0001c0001t0003g0229a0001c0001t0003g0230others(90): Show | 96 | 332 | 0.2892 | -7 | c.-38 others(26): Show |
ATP10D | ENSG00000145246.14 | transcript | ENST00000273859.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ATP11B_chr3_182788504_182926629 | 182797707 | CAAAAAAG | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(55): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0106a0001c0001t0001g0107a0001c0001t0001g0108others(52): Show | 58 | 324 | 0.1790 | -7 | c.27+ others(22): Show |
ATP11B | ENSG00000058063.16 | transcript | ENST00000323116.10 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP11B_chr3_182788504_182926629 | 182875416 | TTTTGTTG | T | intron_variant | MODIFIER | HG00639.hp2 HG01255.hp2 HG02280.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0252a0001c0001t0005g0253a0001c0001t0005g0254others(8): Show | 11 | 324 | 0.0340 | -7 | c.225 others(26): Show |
ATP11B | ENSG00000058063.16 | transcript | ENST00000323116.10 | protein_coding | 19/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP11C_chrX_139721348_139938053 | 139742875 | AAATATAT | A | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0033 | 1 | 234 | 0.0043 | -7 | c.303 others(24): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 26/29 | chrX | TogoVar | ||||||
ATP11C_chrX_139721348_139938053 | 139742877 | ATATATAT | A | intron_variant | MODIFIER | HG01891.hp1 HG01891.hp2 HG02109.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0021a0001c0001t0003g0023a0001c0001t0003g0024others(5): Show | 8 | 234 | 0.0342 | -7 | c.303 others(24): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 26/29 | chrX | TogoVar | ||||||
ATP11C_chrX_139721348_139938053 | 139803685 | CTTTTTTT | C | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0209 | 1 | 234 | 0.0043 | -7 | c.555 others(22): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 6/29 | chrX | TogoVar | ||||||
ATP11C_chrX_139721348_139938053 | 139852450 | TGCGGGGG | T | intron_variant | MODIFIER | HG00597.hp2 HG00673.hp1 HG02132.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002a0002c0002t0005others(1): Show | a0001c0001t0002g0070a0001c0001t0002g0184a0001c0001t0002g0185others(5): Show | 8 | 234 | 0.0342 | -7 | c.28- others(24): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | ||||||
ATP11C_chrX_139721348_139938053 | 139852452 | CGGGGGGG | C | intron_variant | MODIFIER | HG00639.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079a0001c0001t0001g0091 | 2 | 234 | 0.0086 | -7 | c.28- others(24): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | ||||||
ATP11C_chrX_139721348_139938053 | 139866343 | CAAAAAAA | C | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0209 | 1 | 234 | 0.0043 | -7 | c.28- others(24): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | ||||||
ATP11C_chrX_139721348_139938053 | 139869886 | CAAAAAAA | C | intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0220 | 1 | 234 | 0.0043 | -7 | c.28- others(24): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | ||||||
ATP12A_chr13_24675408_24717472 | 24717037 | CTTTTCTT | C | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00544.hp2 others(34): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0007a0001c0001t0012a0001c0002t0007others(6): Show | a0001c0001t0007g0224a0001c0001t0007g0225a0001c0001t0012g0067others(30): Show | 37 | 382 | 0.0969 | -7 | c.*55 others(18): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 4566 | chr13 | TogoVar | ||||||
ATP13A3_chr3_194397677_194492002 | 194399624 | GTTTTTTT | G | downstream_gene_variant | MODIFIER | HG00597.hp2 HG01884.hp2 HG02015.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(4): Show | a0001c0001t0001g0056a0001c0001t0001g0057a0001c0001t0001g0066others(15): Show | 18 | 304 | 0.0592 | -7 | c.*62 others(18): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 3052 | chr3 | TogoVar | ||||||
ATP13A3_chr3_194397677_194492002 | 194464984 | GGGAAGGA | G | intron_variant | MODIFIER | HG00597.hp2 HG02015.hp2 HG02074.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(6): Show | a0001c0001t0001g0159a0001c0001t0001g0161a0001c0001t0005g0157others(16): Show | 19 | 304 | 0.0625 | -7 | c.-46 others(24): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 2/33 | chr3 | TogoVar | ||||||
ATP13A5_chr3_193269789_193383753 | 193305016 | CCAGTCAA | C | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00639.hp1 others(83): Show |
a0002a0004a0005others(11): Show | a0002c0001a0004c0003a0005c0004others(11): Show | a0002c0001t0001a0004c0003t0001a0004c0003t0002others(13): Show | a0002c0001t0001g0002a0002c0001t0001g0010a0002c0001t0001g0019others(78): Show | 86 | 284 | 0.3028 | -7 | c.267 others(24): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 23/29 | chr3 | TogoVar | ||||||
ATP1A2_chr1_160110759_160148591 | 160119256 | CAAAAAAA | C | intron_variant | MODIFIER | HG00609.hp2 HG00621.hp2 HG00639.hp1 others(74): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0155a0001c0001t0001g0156a0001c0001t0001g0157others(36): Show | 77 | 414 | 0.1860 | -7 | c.13- others(22): Show |
ATP1A2 | ENSG00000018625.15 | transcript | ENST00000361216.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP1A4_chr1_160146603_160191980 | 160149555 | CAATACAG | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(21): Show |
a0001a0003a0004others(1): Show | a0001c0011a0001c0020a0001c0063others(5): Show | a0001c0011t0001a0001c0020t0001a0001c0063t0001others(5): Show | a0001c0011t0001g0015a0001c0011t0001g0286a0001c0011t0001g0396others(20): Show | 24 | 418 | 0.0574 | -7 | c.-24 others(18): Show |
ATP1A4 | ENSG00000132681.17 | transcript | ENST00000368081.9 | protein_coding | 2047 | chr1 | TogoVar | ||||||
ATP1A4_chr1_160146603_160191980 | 160180694 | CTTTTTTT | C | intron_variant | MODIFIER | HG02109.hp2 HG02257.hp2 HG02559.hp1 others(11): Show |
a0001a0002a0008 | a0001c0001a0001c0003a0001c0005others(5): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(6): Show | a0001c0001t0001g0347a0001c0003t0001g0071a0001c0005t0001g0036others(11): Show | 14 | 418 | 0.0335 | -7 | c.273 others(24): Show |
ATP1A4 | ENSG00000132681.17 | transcript | ENST00000368081.9 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP1B1_chr1_169101690_169137719 | 169130779 | CAAAAAAA | C | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00558.hp1 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0002g0155a0001c0001t0003g0004a0001c0001t0003g0007others(27): Show | 39 | 412 | 0.0947 | -7 | c.649 others(22): Show |
ATP1B1 | ENSG00000143153.14 | transcript | ENST00000367815.9 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP1B3_chr3_141871643_141931549 | 141874779 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG01109.hp2 HG02055.hp1 HG02258.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0003g0298a0001c0001t0004g0390a0001c0001t0006g0093others(4): Show | 7 | 408 | 0.0172 | -7 | c.-20 others(18): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1863 | chr3 | TogoVar | ||||||
ATP1B3_chr3_141871643_141931549 | 141889751 | ATATATAC | A | intron_variant | MODIFIER | HG02055.hp1 HG02258.hp1 HG02615.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0092a0001c0001t0006g0098a0001c0001t0006g0099others(5): Show | 8 | 408 | 0.0196 | -7 | c.109 others(26): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1/6 | chr3 | TogoVar | ||||||
ATP1B3_chr3_141871643_141931549 | 141890285 | CTTTTTTT | C | intron_variant | MODIFIER | HG01361.hp1 HG01884.hp2 HG02027.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0255a0001c0001t0001g0258a0001c0001t0001g0259others(14): Show | 17 | 408 | 0.0417 | -7 | c.110 others(26): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP1B4_chrX_120357089_120388237 | 120366526 | ATGATCCG | A | frameshift_variant others(1): Show |
HIGH | NA18987.hp2 | a0008 | a0008c0004 | a0008c0004t0001 | a0008c0004t0001g0140 | 1 | 353 | 0.0028 | -7 | c.66_ others(12): Show |
p.Asp others(4): Show |
ATP1B4 | ENSG00000101892.12 | transcript | ENST00000218008.8 | protein_coding | 2/8 | 146/4757 | 66/1074 | 22/357 | chrX | TogoVar | ||
ATP1B4_chrX_120357089_120388237 | 120372479 | AAAGGGGG | A | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 NA19240.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0011a0001c0001t0013 | a0001c0001t0008g0068a0001c0001t0011g0028a0001c0001t0013g0069 | 4 | 353 | 0.0113 | -7 | c.562 others(24): Show |
ATP1B4 | ENSG00000101892.12 | transcript | ENST00000218008.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP1B4_chrX_120357089_120388237 | 120385093 | TTAGGAAC | T | downstream_gene_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 | 1 | 353 | 0.0028 | -7 | c.*54 others(18): Show |
ATP1B4 | ENSG00000101892.12 | transcript | ENST00000218008.8 | protein_coding | 1857 | chrX | TogoVar | ||||||
ATP2A1_chr16_28873488_28909466 | 28891508 | GCTTGAAC | G | intron_variant | MODIFIER | NA18943.hp2 NA18995.hp1 NA19081.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223a0001c0001t0001g0224a0001c0001t0001g0262others(1): Show | 4 | 380 | 0.0105 | -7 | c.109 others(26): Show |
ATP2A1 | ENSG00000196296.14 | transcript | ENST00000395503.9 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ATP2A3_chr17_3918873_3969437 | 3931523 | CTTTTTTT | C | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG01891.hp2 others(20): Show |
a0001a0002 | a0001c0001a0002c0006a0002c0015others(7): Show | a0001c0001t0001a0002c0006t0001a0002c0006t0010others(10): Show | a0001c0001t0001g0141a0002c0006t0001g0004a0002c0006t0001g0047others(18): Show | 23 | 332 | 0.0693 | -7 | c.261 others(26): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 17/20 | chr17 | TogoVar | ||||||
ATP2A3_chr17_3918873_3969437 | 3940036 | TTTTTTTG | T | intron_variant | MODIFIER | HG01515.hp1 HG02055.hp1 HG02165.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0012others(2): Show | a0001c0001t0001a0001c0002t0004a0001c0002t0016others(3): Show | a0001c0001t0001g0191a0001c0001t0001g0210a0001c0001t0001g0235others(6): Show | 9 | 332 | 0.0271 | -7 | c.210 others(24): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 14/20 | chr17 | TogoVar | ||||||
ATP2B2_chr3_10319023_10510586 | 10321737 | TATCTATC | T | downstream_gene_variant | MODIFIER | HG00558.hp1 HG00597.hp1 HG00597.hp2 others(37): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0017a0001c0001t0039others(16): Show | a0001c0001t0001g0063a0001c0001t0001g0130a0001c0001t0001g0146others(36): Show | 40 | 290 | 0.1379 | -7 | c.*70 others(18): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 2285 | chr3 | TogoVar | ||||||
ATP2B3_chrX_153512642_153587929 | 153551761 | TAGAACAA | T | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0240 | 1 | 267 | 0.0038 | -7 | c.182 others(26): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP2B4_chr1_203621832_203749081 | 203653976 | TATATATA | T | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG01258.hp1 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0005a0003c0007others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0015others(3): Show | a0001c0001t0001g0041a0001c0001t0004g0254a0001c0001t0004g0255others(4): Show | 7 | 318 | 0.0220 | -7 | c.-46 others(28): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 1/20 | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203653978 | TATATATA | T | intron_variant | MODIFIER | HG00558.hp1 HG01069.hp2 HG01071.hp1 others(36): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0073a0001c0001t0001g0087a0001c0001t0001g0091others(36): Show | 39 | 318 | 0.1226 | -7 | c.-46 others(28): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 1/20 | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203674637 | CTTTTTTT | C | intron_variant | MODIFIER | HG00621.hp1 HG01978.hp2 HG02027.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0005a0001c0001t0009others(5): Show | a0001c0001t0002g0193a0001c0001t0002g0289a0001c0001t0005g0059others(6): Show | 9 | 318 | 0.0283 | -7 | 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 | 203719240 | AAAAAAGC | A | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(118): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0005a0001c0001t0001g0016a0001c0001t0001g0040others(118): Show | 121 | 318 | 0.3805 | -7 | c.240 others(26): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP2C1_chr3_130889084_131008150 | 130890828 | TTATCTTA | T | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00673.hp1 NA18940.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0020a0001c0001t0001g0028others(11): Show | 16 | 382 | 0.0419 | -7 | c.-36 others(18): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 3255 | chr3 | TogoVar | ||||||
ATP2C2_chr16_84363538_84469187 | 84396549 | CAAAAAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG01070.hp2 HG01261.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(3): Show | a0001c0001t0001g0411a0001c0001t0002g0397a0001c0001t0002g0406others(6): Show | 9 | 432 | 0.0208 | -7 | c.100 others(24): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ATP2C2_chr16_84363538_84469187 | 84424576 | CTTTTTTT | C | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01167.hp1 others(10): Show |
a0001a0002a0006others(2): Show | a0001c0003a0002c0004a0002c0007others(4): Show | a0001c0003t0001a0002c0004t0001a0002c0004t0002others(5): Show | a0001c0003t0001g0287a0002c0004t0001g0217a0002c0004t0001g0218others(10): Show | 13 | 432 | 0.0301 | -7 | c.920 others(24): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 10/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ATP2C2_chr16_84363538_84469187 | 84444162 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(247): Show |
a0001a0002a0006others(11): Show | a0001c0001a0001c0002a0001c0003others(38): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(61): Show | a0001c0001t0001g0078a0001c0001t0001g0329a0001c0001t0001g0334others(247): Show | 250 | 432 | 0.5787 | -7 | c.140 others(26): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 15/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ATP5MC2_chr12_53660170_53681083 | 53677077 | CATAAAAA | C | upstream_gene_variant | MODIFIER | HG02040.hp1 HG02040.hp2 NA18993.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0018a0001c0001t0001g0179 | 3 | 418 | 0.0072 | -7 | c.-10 others(18): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 995 | chr12 | TogoVar | ||||||
ATP5MC3_chr2_175171258_175186710 | 175174742 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG02055.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0043 | 7 | 390 | 0.0180 | -7 | c.*35 others(18): Show |
ATP5MC3 | ENSG00000154518.10 | transcript | ENST00000284727.9 | protein_coding | 1515 | chr2 | TogoVar | ||||||
ATP5MF_chr7_99453195_99471167 | 99466717 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG02258.hp1 HG02486.hp1 HG02572.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0081a0001c0001t0002g0013others(10): Show | 17 | 346 | 0.0491 | -7 | c.-58 others(16): Show |
ATP5MF | ENSG00000241468.8 | transcript | ENST00000292475.8 | protein_coding | 551 | chr7 | TogoVar | ||||||
ATP5MJ_chr14_103907288_103926529 | 103925043 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG00735.hp1 HG01074.hp1 HG02280.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0138a0002c0002t0001g0008a0002c0002t0001g0062others(2): Show | 13 | 440 | 0.0296 | -7 | c.-35 others(18): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 3515 | chr14 | TogoVar | ||||||
ATP5PB_chr1_111444464_111467773 | 111457026 | TGATTTAA | T | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG00741.hp1 others(36): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0001c0001t0007a0001c0001t0024others(1): Show | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0041others(6): Show | 39 | 434 | 0.0899 | -7 | c.513 others(22): Show |
ATP5PB | ENSG00000116459.11 | transcript | ENST00000369722.8 | protein_coding | 5/6 | chr1 | TogoVar | ||||||
ATP5PD_chr17_75033863_75051969 | 75035567 | TCCCAACA | T | downstream_gene_variant | MODIFIER | HG00733.hp2 HG01069.hp1 HG01515.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0003a0001c0001t0001g0119a0001c0001t0002g0002others(5): Show | 11 | 428 | 0.0257 | -7 | c.*33 others(18): Show |
ATP5PD | ENSG00000167863.12 | transcript | ENST00000301587.9 | protein_coding | 3295 | chr17 | TogoVar | ||||||
ATP6V0A2_chr12_123707353_123766755 | 123708979 | ATTTTTTT | A | upstream_gene_variant | MODIFIER | HG01099.hp2 HG01109.hp2 HG01256.hp2 others(8): Show |
a0001 | a0001c0001a0001c0005a0001c0006 | a0001c0001t0005a0001c0001t0009a0001c0001t0017others(2): Show | a0001c0001t0005g0122a0001c0001t0005g0123a0001c0001t0005g0124others(8): Show | 11 | 222 | 0.0496 | -7 | c.-35 others(18): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 3373 | chr12 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138707189 | ATATATAT | A | intron_variant | MODIFIER | HG01515.hp2 HG01517.hp2 HG02602.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0261a0002c0003t0001g0167a0002c0003t0001g0168 | 3 | 376 | 0.0080 | -7 | c.243 others(24): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 21/21 | chr7 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138722744 | CAAAAAAA | C | intron_variant | MODIFIER | HG00733.hp1 HG01074.hp2 HG01109.hp2 others(36): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0008a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0008t0001others(5): Show | a0001c0001t0001g0040a0001c0001t0001g0048a0001c0001t0001g0058others(36): Show | 39 | 376 | 0.1037 | -7 | c.201 others(24): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 18/21 | chr7 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138800698 | CTTCTTCT | C | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG01358.hp1 others(15): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0010a0002c0002others(4): Show | a0001c0001t0001a0001c0010t0002a0002c0002t0001others(4): Show | a0001c0001t0001g0070a0001c0001t0001g0077a0001c0001t0001g0087others(15): Show | 18 | 376 | 0.0479 | -7 | c.-27 others(18): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 2503 | chr7 | TogoVar | ||||||
ATP6V0D2_chr8_86093910_86159225 | 86095167 | TTCTTAAA | T | upstream_gene_variant | MODIFIER | NA18968.hp1 NA18970.hp2 NA18982.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0241a0001c0001t0002g0248a0001c0001t0002g0249 | 3 | 360 | 0.0083 | -7 | c.-38 others(18): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 3742 | chr8 | TogoVar |