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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP11A_chr13_112685038_112892168 | 112824340 | G | C | splice_region_variant others(1): Show |
LOW | HG00597.hp1 HG00609.hp1 HG00621.hp1 others(56): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0004others(10): Show | a0001c0001t0001a0001c0002t0003a0001c0002t0013others(25): Show | a0001c0001t0001g0210a0001c0002t0003g0198a0001c0002t0013g0117others(56): Show | 59 | 254 | 0.2323 | 0 | c.791 others(5): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 9/29 | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112856088 | G | A | splice_region_variant others(1): Show |
LOW | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 254 | 0.0039 | 0 | c.241 others(6): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 20/29 | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112857820 | T | A | splice_region_variant others(1): Show |
LOW | HG02056.hp1 | a0001 | a0001c0040 | a0001c0040t0001 | a0001c0040t0001g0216 | 1 | 254 | 0.0039 | 0 | c.242 others(4): Show |
p.Ile others(6): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 21/30 | 2800/9086 | 2421/3405 | 807/1134 | chr13 | TogoVar | ||
ATP11A_chr13_112685038_112892168 | 112858141 | C | T | splice_region_variant others(1): Show |
LOW | HG01099.hp2 HG02074.hp2 HG02572.hp2 others(6): Show |
a0001a0002 | a0001c0002a0001c0011a0001c0019others(3): Show | a0001c0002t0002a0001c0002t0007a0001c0011t0046others(5): Show | a0001c0002t0002g0021a0001c0002t0007g0110a0001c0002t0007g0253others(6): Show | 9 | 254 | 0.0354 | 0 | c.252 others(6): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 21/29 | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112859395 | C | T | splice_region_variant others(1): Show |
LOW | HG01934.hp1 | a0001 | a0001c0030 | a0001c0030t0001 | a0001c0030t0001g0103 | 1 | 254 | 0.0039 | 0 | c.267 others(4): Show |
p.Asn others(6): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 23/30 | 3049/9086 | 2670/3405 | 890/1134 | chr13 | TogoVar | ||
ATP11A_chr13_112685038_112892168 | 112873683 | A | G | splice_region_variant others(1): Show |
LOW | NA19063.hp2 | a0001 | a0001c0011 | a0001c0011t0046 | a0001c0011t0046g0011 | 1 | 254 | 0.0039 | 0 | c.316 others(6): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 27/29 | chr13 | TogoVar | ||||||
ATP11B_chr3_182788504_182926629 | 182869338 | G | A | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(40): Show |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0004a0001c0002t0006a0001c0002t0010others(3): Show | a0001c0002t0004g0001a0001c0002t0004g0007a0001c0002t0004g0120others(37): Show | 43 | 324 | 0.1327 | 0 | c.186 others(6): Show |
ATP11B | ENSG00000058063.16 | transcript | ENST00000323116.10 | protein_coding | 17/29 | chr3 | TogoVar | ||||||
ATP11C_chrX_139721348_139938053 | 139798676 | C | T | splice_region_variant others(1): Show |
LOW | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 234 | 0.0043 | 0 | c.775 others(5): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 9/29 | chrX | TogoVar | ||||||
ATP12A_chr13_24675408_24717472 | 24681728 | G | A | splice_region_variant others(1): Show |
LOW | HG06807.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0288 | 1 | 382 | 0.0026 | 0 | c.168 others(5): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 2/22 | chr13 | TogoVar | ||||||
ATP12A_chr13_24675408_24717472 | 24709356 | C | T | splice_region_variant others(1): Show |
LOW | HG00408.hp1 HG00438.hp2 HG00544.hp2 others(35): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0007a0001c0001t0012a0001c0002t0007others(5): Show | a0001c0001t0007g0224a0001c0001t0007g0225a0001c0001t0012g0067others(31): Show | 38 | 382 | 0.0995 | 0 | c.249 others(6): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 17/22 | chr13 | TogoVar | ||||||
ATP12A_chr13_24675408_24717472 | 24709826 | T | G | missense_variant others(1): Show |
MODERATE | HG02015.hp2 | a0013 | a0013c0025 | a0013c0025t0001 | a0013c0025t0001g0054 | 1 | 382 | 0.0026 | 0 | c.276 others(4): Show |
p.Trp others(6): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 19/23 | 3097/4406 | 2761/3120 | 921/1039 | chr13 | TogoVar | ||
ATP13A1_chr19_19640198_19668676 | 19645539 | G | C | splice_region_variant others(1): Show |
LOW | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 380 | 0.0026 | 0 | c.350 others(6): Show |
ATP13A1 | ENSG00000105726.17 | transcript | ENST00000357324.11 | protein_coding | 25/25 | chr19 | TogoVar | ||||||
ATP13A1_chr19_19640198_19668676 | 19647122 | G | A | splice_region_variant others(1): Show |
LOW | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 380 | 0.0026 | 0 | c.310 others(6): Show |
ATP13A1 | ENSG00000105726.17 | transcript | ENST00000357324.11 | protein_coding | 22/25 | chr19 | TogoVar | ||||||
ATP13A1_chr19_19640198_19668676 | 19651686 | C | T | splice_region_variant others(1): Show |
LOW | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 380 | 0.0026 | 0 | c.233 others(6): Show |
ATP13A1 | ENSG00000105726.17 | transcript | ENST00000357324.11 | protein_coding | 17/25 | chr19 | TogoVar | ||||||
ATP13A1_chr19_19640198_19668676 | 19659796 | G | A | splice_region_variant others(1): Show |
LOW | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 380 | 0.0026 | 0 | c.487 others(5): Show |
ATP13A1 | ENSG00000105726.17 | transcript | ENST00000357324.11 | protein_coding | 2/25 | chr19 | TogoVar | ||||||
ATP13A2_chr1_16980958_17016928 | 16986959 | G | A | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(126): Show |
a0001a0005 | a0001c0001a0001c0004a0001c0016others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0014a0001c0001t0001g0015others(110): Show | 129 | 366 | 0.3525 | 0 | c.308 others(6): Show |
ATP13A2 | ENSG00000159363.19 | transcript | ENST00000326735.13 | protein_coding | 26/28 | chr1 | TogoVar | ||||||
ATP13A2_chr1_16980958_17016928 | 17005561 | G | A | splice_region_variant others(1): Show |
LOW | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 366 | 0.0027 | 0 | c.106 others(5): Show |
ATP13A2 | ENSG00000159363.19 | transcript | ENST00000326735.13 | protein_coding | 2/28 | chr1 | TogoVar | ||||||
ATP13A3_chr3_194397677_194492002 | 194438977 | A | G | splice_region_variant others(1): Show |
LOW | HG01884.hp1 HG01934.hp1 HG01975.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0012a0001c0001t0018others(3): Show | a0001c0001t0005g0043a0001c0001t0005g0047a0001c0001t0012g0034others(9): Show | 12 | 304 | 0.0395 | 0 | c.171 others(6): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 16/33 | chr3 | TogoVar | ||||||
ATP13A4_chr3_193393967_193559895 | 193441592 | C | A | splice_region_variant others(1): Show |
LOW | HG04115.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0214 | 1 | 302 | 0.0033 | 0 | c.231 others(6): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 19/29 | chr3 | TogoVar | ||||||
ATP13A4_chr3_193393967_193559895 | 193456993 | T | C | splice_region_variant others(1): Show |
LOW | HG00408.hp2 HG00438.hp1 HG00558.hp2 others(53): Show |
a0001a0002a0012 | a0001c0001a0001c0004a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0164a0001c0001t0001g0179a0001c0001t0001g0223others(53): Show | 56 | 302 | 0.1854 | 0 | c.191 others(6): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 16/29 | chr3 | TogoVar | ||||||
ATP13A5_chr3_193269789_193383753 | 193322581 | T | C | splice_region_variant others(1): Show |
LOW | HG02647.hp1 | a0004 | a0004c0003 | a0004c0003t0002 | a0004c0003t0002g0221 | 1 | 284 | 0.0035 | 0 | c.167 others(6): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 14/29 | chr3 | TogoVar | ||||||
ATP13A5_chr3_193269789_193383753 | 193362641 | C | T | splice_region_variant others(1): Show |
LOW | HG02451.hp2 | a0003 | a0003c0041 | a0003c0041t0002 | a0003c0041t0002g0198 | 1 | 284 | 0.0035 | 0 | c.385 others(5): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 3/29 | chr3 | TogoVar | ||||||
ATP13A5_chr3_193269789_193383753 | 193364102 | C | T | splice_region_variant others(1): Show |
LOW | HG02074.hp1 NA18983.hp1 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0113a0002c0001t0001g0114 | 2 | 284 | 0.0070 | 0 | c.237 others(5): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 2/29 | chr3 | TogoVar | ||||||
ATP1A1_chr1_116368244_116409774 | 116384846 | T | C | splice_region_variant others(1): Show |
LOW | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0053 | 1 | 336 | 0.0030 | 0 | c.183 others(5): Show |
ATP1A1 | ENSG00000163399.16 | transcript | ENST00000295598.10 | protein_coding | 3/22 | chr1 | TogoVar | ||||||
ATP1A1_chr1_116368244_116409774 | 116390418 | C | G | splice_region_variant others(1): Show |
LOW | HG02040.hp2 HG02080.hp1 NA18947.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0103 | 5 | 336 | 0.0149 | 0 | c.122 others(6): Show |
ATP1A1 | ENSG00000163399.16 | transcript | ENST00000295598.10 | protein_coding | 9/22 | chr1 | TogoVar | ||||||
ATP1A1_chr1_116368244_116409774 | 116398906 | AGTAAAAA others(16): Show |
A | frameshift_variant others(3): Show |
HIGH | HG02615.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0068 | 1 | 336 | 0.0030 | -23 | c.229 others(35): Show |
p.Gly others(5): Show |
ATP1A1 | ENSG00000163399.16 | transcript | ENST00000295598.10 | protein_coding | 17/23 | 2294/3072 | 765/1023 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
ATP1A1_chr1_116368244_116409774 | 116403983 | T | C | splice_region_variant others(1): Show |
LOW | HG01433.hp1 HG01884.hp1 HG01891.hp2 others(32): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0003t0001others(3): Show | a0001c0001t0002g0038a0001c0001t0002g0072a0001c0001t0002g0131others(24): Show | 35 | 336 | 0.1042 | 0 | c.304 others(6): Show |
ATP1A1 | ENSG00000163399.16 | transcript | ENST00000295598.10 | protein_coding | 22/22 | chr1 | TogoVar | ||||||
ATP1A2_chr1_160110759_160148591 | 160120891 | CCCTT | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(293): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(221): Show | 296 | 414 | 0.7150 | -4 | c.13- others(14): Show |
ATP1A2 | ENSG00000018625.15 | transcript | ENST00000361216.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP1A3_chr19_41961582_41999230 | 41970315 | G | A | splice_region_variant others(1): Show |
LOW | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 282 | 0.0036 | 0 | c.241 others(6): Show |
ATP1A3 | ENSG00000105409.19 | transcript | ENST00000648268.1 | protein_coding | 17/22 | chr19 | TogoVar | ||||||
ATP1A3_chr19_41961582_41999230 | 41988144 | G | C | splice_region_variant others(1): Show |
LOW | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 282 | 0.0036 | 0 | c.154 others(5): Show |
ATP1A3 | ENSG00000105409.19 | transcript | ENST00000648268.1 | protein_coding | 3/22 | chr19 | TogoVar | ||||||
ATP1A4_chr1_160146603_160191980 | 160158998 | A | C | splice_region_variant others(1): Show |
LOW | HG02622.hp2 HG02965.hp2 |
a0001 | a0001c0019 | a0001c0019t0001 | a0001c0019t0001g0400a0001c0019t0001g0402 | 2 | 418 | 0.0048 | 0 | c.526 others(5): Show |
ATP1A4 | ENSG00000132681.17 | transcript | ENST00000368081.9 | protein_coding | 4/21 | chr1 | TogoVar | ||||||
ATP1A4_chr1_160146603_160191980 | 160173724 | T | G | splice_region_variant others(1): Show |
LOW | HG02965.hp1 HG03834.hp1 NA18612.hp2 |
a0001a0003 | a0001c0003a0001c0005a0003c0017 | a0001c0003t0001a0001c0005t0001a0003c0017t0001 | a0001c0003t0001g0341a0001c0005t0001g0037a0003c0017t0001g0298 | 3 | 418 | 0.0072 | 0 | c.199 others(6): Show |
ATP1A4 | ENSG00000132681.17 | transcript | ENST00000368081.9 | protein_coding | 13/21 | chr1 | TogoVar | ||||||
ATP1A4_chr1_160146603_160191980 | 160176087 | C | T | splice_region_variant others(1): Show |
LOW | HG02523.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0209 | 1 | 418 | 0.0024 | 0 | c.231 others(6): Show |
ATP1A4 | ENSG00000132681.17 | transcript | ENST00000368081.9 | protein_coding | 15/21 | chr1 | TogoVar | ||||||
ATP1B3_chr3_141871643_141931549 | 141907281 | A | G | splice_region_variant others(1): Show |
LOW | HG00544.hp1 HG00558.hp1 HG00642.hp2 others(56): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0016others(2): Show | a0001c0001t0004g0010a0001c0001t0004g0336a0001c0001t0004g0337others(55): Show | 59 | 408 | 0.1446 | 0 | c.346 others(5): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 3/6 | 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 | ||
ATP2A1_chr16_28873488_28909466 | 28898456 | GC | G | splice_region_variant others(1): Show |
LOW | HG00558.hp1 HG00609.hp2 HG00673.hp1 others(29): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0205a0001c0001t0001g0206a0001c0002t0001g0247others(28): Show | 32 | 380 | 0.0842 | -1 | c.176 others(7): Show |
ATP2A1 | ENSG00000196296.14 | transcript | ENST00000395503.9 | protein_coding | 14/22 | chr16 | TogoVar | ||||||
ATP2A1_chr16_28873488_28909466 | 28902389 | G | T | splice_region_variant others(1): Show |
LOW | HG00438.hp2 HG01358.hp1 HG01496.hp2 others(49): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0002a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0007a0001c0002t0001others(4): Show | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0019others(43): Show | 52 | 380 | 0.1368 | 0 | c.252 others(6): Show |
ATP2A1 | ENSG00000196296.14 | transcript | ENST00000395503.9 | protein_coding | 17/22 | chr16 | TogoVar | ||||||
ATP2A1_chr16_28873488_28909466 | 28903146 | C | T | missense_variant others(1): Show |
MODERATE | HG03927.hp2 | a0005 | a0005c0011 | a0005c0011t0001 | a0005c0011t0001g0111 | 1 | 380 | 0.0026 | 0 | c.286 others(4): Show |
p.Pro others(6): Show |
ATP2A1 | ENSG00000196296.14 | transcript | ENST00000395503.9 | protein_coding | 20/23 | 3045/3493 | 2861/2985 | 954/994 | chr16 | TogoVar | ||
ATP2A2_chr12_110276247_110356093 | 110296601 | A | G | splice_region_variant others(1): Show |
LOW | HG00738.hp1 HG01069.hp2 |
a0001 | a0001c0005 | a0001c0005t0009 | a0001c0005t0009g0220a0001c0005t0009g0221 | 2 | 228 | 0.0088 | 0 | c.327 others(3): Show |
p.Glu others(6): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 5/20 | 870/8295 | 327/3129 | 109/1042 | chr12 | TogoVar | ||
ATP2A2_chr12_110276247_110356093 | 110332597 | A | G | missense_variant others(1): Show |
MODERATE | HG01123.hp1 | a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0064 | 1 | 228 | 0.0044 | 0 | c.109 others(4): Show |
p.Met others(6): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 9/20 | 1639/8295 | 1096/3129 | 366/1042 | chr12 | TogoVar | ||
ATP2A2_chr12_110276247_110356093 | 110339273 | C | G | splice_region_variant others(1): Show |
LOW | HG01081.hp1 HG01943.hp1 HG02647.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0061a0001c0001t0006g0012a0001c0001t0006g0013others(4): Show | 7 | 228 | 0.0307 | 0 | c.142 others(6): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 11/19 | chr12 | TogoVar | ||||||
ATP2A2_chr12_110276247_110356093 | 110346190 | CTG | C | splice_region_variant others(1): Show |
LOW | HG01167.hp1 HG02280.hp1 HG02622.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0169a0001c0001t0004g0170a0001c0001t0004g0171others(3): Show | 6 | 228 | 0.0263 | -2 | c.286 others(15): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATP2A3_chr17_3918873_3969437 | 3928785 | C | T | splice_region_variant others(1): Show |
LOW | HG01243.hp2 HG01891.hp2 HG02258.hp1 others(18): Show |
a0002 | a0002c0006a0002c0015a0002c0016others(6): Show | a0002c0006t0001a0002c0006t0010a0002c0006t0026others(9): Show | a0002c0006t0001g0004a0002c0006t0001g0047a0002c0006t0001g0050others(16): Show | 21 | 332 | 0.0633 | 0 | c.286 others(6): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 19/20 | chr17 | TogoVar | ||||||
ATP2A3_chr17_3918873_3969437 | 3935283 | G | C | splice_region_variant others(1): Show |
LOW | NA20752.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0199 | 1 | 332 | 0.0030 | 0 | c.252 others(6): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 16/20 | chr17 | TogoVar | ||||||
ATP2A3_chr17_3918873_3969437 | 3937634 | A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(70): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0008others(9): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(28): Show | a0001c0002t0001g0128a0001c0002t0001g0165a0001c0002t0002g0119others(68): Show | 73 | 332 | 0.2199 | 0 | c.210 others(4): Show |
p.Thr others(6): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 15/21 | 2249/4695 | 2103/3000 | 701/999 | chr17 | TogoVar | ||
ATP2A3_chr17_3918873_3969437 | 3942729 | G | A | splice_region_variant others(1): Show |
LOW | HG02293.hp2 | a0001 | a0001c0045 | a0001c0045t0003 | a0001c0045t0003g0269 | 1 | 332 | 0.0030 | 0 | c.142 others(4): Show |
p.Val others(6): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 12/21 | 1568/4695 | 1422/3000 | 474/999 | chr17 | TogoVar | ||
ATP2A3_chr17_3918873_3969437 | 3950686 | G | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG01433.hp2 HG02738.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0120a0001c0002t0002g0121a0001c0002t0002g0122others(2): Show | 5 | 332 | 0.0151 | 0 | c.544 others(5): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 6/20 | chr17 | TogoVar | ||||||
ATP2B2_chr3_10319023_10510586 | 10345376 | G | A | splice_region_variant others(1): Show |
LOW | HG02559.hp1 NA19057.hp1 |
a0001 | a0001c0004a0001c0026 | a0001c0004t0002a0001c0026t0004 | a0001c0004t0002g0100a0001c0026t0004g0066 | 2 | 290 | 0.0069 | 0 | c.270 others(6): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 18/22 | chr3 | TogoVar | ||||||
ATP2B3_chrX_153512642_153587929 | 153518427 | TC | T | splice_region_variant others(1): Show |
LOW | NA19063.hp1 NA19084.hp2 |
a0001 | a0001c0002 | a0001c0002t0029a0001c0002t0030 | a0001c0002t0029g0019a0001c0002t0030g0018 | 2 | 267 | 0.0075 | -1 | c.-24 others(7): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP2B3_chrX_153512642_153587929 | 153518431 | GGA | G | splice_region_variant | LOW | NA19084.hp2 | a0001 | a0001c0002 | a0001c0002t0029 | a0001c0002t0029g0019 | 1 | 267 | 0.0038 | -2 | c.-24 others(11): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 2/22 | chrX | TogoVar |