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 | 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 | 112871752 | G | A | synonymous_variant | LOW | homoSapiens_chm13v2.hp1 | a0001 | a0001c0028 | a0001c0028t0002 | a0001c0028t0002g0136 | 1 | 254 | 0.0039 | 0 | c.300 others(4): Show |
p.Thr others(7): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 26/30 | 3388/9086 | 3009/3405 | 1003/1134 | chr13 | TogoVar | ||
ATP11A_chr13_112685038_112892168 | 112871782 | G | A | synonymous_variant | LOW | HG00544.hp1 | a0001 | a0001c0039 | a0001c0039t0037 | a0001c0039t0037g0078 | 1 | 254 | 0.0039 | 0 | c.303 others(4): Show |
p.Val others(7): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 26/30 | 3418/9086 | 3039/3405 | 1013/1134 | chr13 | TogoVar | ||
ATP11A_chr13_112685038_112892168 | 112873653 | G | A | synonymous_variant | LOW | HG00099.hp2 HG00438.hp1 HG00544.hp2 others(90): Show |
a0001a0002a0005others(5): Show | a0001c0001a0001c0006a0001c0011others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(36): Show | a0001c0001t0001g0012a0001c0001t0001g0015a0001c0001t0001g0016others(90): Show | 93 | 254 | 0.3661 | 0 | c.313 others(4): Show |
p.Ser others(7): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 27/30 | 3517/9086 | 3138/3405 | 1046/1134 | chr13 | TogoVar | ||
ATP11A_chr13_112685038_112892168 | 112878264 | T | C | synonymous_variant | LOW | HG02886.hp2 HG03486.hp1 |
a0001 | a0001c0029a0001c0044 | a0001c0029t0051a0001c0044t0045 | a0001c0029t0051g0046a0001c0044t0045g0133 | 2 | 254 | 0.0079 | 0 | c.337 others(4): Show |
p.Leu others(7): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 29/30 | 3754/9086 | 3375/3405 | 1125/1134 | chr13 | TogoVar | ||
ATP11B_chr3_182788504_182926629 | 182896705 | T | C | synonymous_variant | LOW | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(53): Show |
a0001a0003a0004 | a0001c0002a0003c0005a0004c0004 | a0001c0002t0004a0001c0002t0006a0001c0002t0007others(7): Show | a0001c0002t0004g0001a0001c0002t0004g0007a0001c0002t0004g0120others(50): Show | 56 | 324 | 0.1728 | 0 | c.298 others(4): Show |
p.Phe others(6): Show |
ATP11B | ENSG00000058063.16 | transcript | ENST00000323116.10 | protein_coding | 26/30 | 3244/7315 | 2988/3534 | 996/1177 | chr3 | TogoVar | ||
ATP11C_chrX_139721348_139938053 | 139785248 | A | G | synonymous_variant | LOW | HG00423.hp2 HG01952.hp1 HG01993.hp2 others(8): Show |
a0001a0006 | a0001c0003a0006c0006 | a0001c0003t0002a0006c0006t0002 | a0001c0003t0002g0039a0001c0003t0002g0040a0001c0003t0002g0042others(8): Show | 11 | 234 | 0.0470 | 0 | c.164 others(4): Show |
p.Ser others(6): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 16/30 | 2655/7019 | 1644/3390 | 548/1129 | chrX | TogoVar | ||
ATP11C_chrX_139721348_139938053 | 139797221 | T | C | synonymous_variant | LOW | NA18522.hp1 | a0001 | a0001c0008 | a0001c0008t0020 | a0001c0008t0020g0025 | 1 | 234 | 0.0043 | 0 | c.963 others(3): Show |
p.Glu others(6): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 11/30 | 1974/7019 | 963/3390 | 321/1129 | chrX | TogoVar | ||
ATP12A_chr13_24675408_24717472 | 24681567 | C | A | synonymous_variant | LOW | HG00323.hp2 HG00639.hp1 HG00735.hp1 others(20): Show |
a0001a0003a0004others(1): Show | a0001c0006a0001c0010a0003c0009others(2): Show | a0001c0006t0001a0001c0010t0001a0003c0009t0001others(2): Show | a0001c0006t0001g0021a0001c0006t0001g0152a0001c0006t0001g0153others(17): Show | 23 | 382 | 0.0602 | 0 | c.15C others(2): Show |
p.Thr others(4): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 2/23 | 351/4406 | 15/3120 | 5/1039 | chr13 | TogoVar | ||
ATP12A_chr13_24675408_24717472 | 24690618 | T | G | synonymous_variant | LOW | HG03834.hp1 HG04115.hp2 HG04184.hp2 |
a0001a0002 | a0001c0014a0002c0020 | a0001c0014t0001a0001c0014t0004a0002c0020t0010 | a0001c0014t0001g0294a0001c0014t0004g0315a0002c0020t0010g0311 | 3 | 382 | 0.0079 | 0 | c.696 others(3): Show |
p.Ser others(6): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 7/23 | 1032/4406 | 696/3120 | 232/1039 | chr13 | TogoVar | ||
ATP12A_chr13_24675408_24717472 | 24691001 | T | C | synonymous_variant | LOW | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(119): Show |
a0001a0007a0011others(1): Show | a0001c0002a0001c0005a0001c0021others(4): Show | a0001c0002t0001a0001c0002t0004a0001c0002t0005others(10): Show | a0001c0002t0001g0001a0001c0002t0001g0002a0001c0002t0001g0003others(95): Show | 122 | 382 | 0.3194 | 0 | c.819 others(3): Show |
p.Val others(6): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 8/23 | 1155/4406 | 819/3120 | 273/1039 | chr13 | TogoVar | ||
ATP12A_chr13_24675408_24717472 | 24691043 | A | C | synonymous_variant | LOW | HG03471.hp1 | a0010 | a0010c0030 | a0010c0030t0001 | a0010c0030t0001g0286 | 1 | 382 | 0.0026 | 0 | c.861 others(3): Show |
p.Ser others(6): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 8/23 | 1197/4406 | 861/3120 | 287/1039 | chr13 | TogoVar | ||
ATP12A_chr13_24675408_24717472 | 24691094 | G | A | synonymous_variant | LOW | HG02922.hp2 | a0001 | a0001c0021 | a0001c0021t0001 | a0001c0021t0001g0199 | 1 | 382 | 0.0026 | 0 | c.912 others(3): Show |
p.Glu others(6): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 8/23 | 1248/4406 | 912/3120 | 304/1039 | chr13 | TogoVar | ||
ATP12A_chr13_24675408_24717472 | 24691133 | C | T | synonymous_variant | LOW | HG00140.hp1 HG00140.hp2 HG01081.hp1 others(25): Show |
a0001a0002 | a0001c0008a0002c0004 | a0001c0008t0001a0002c0004t0003 | a0001c0008t0001g0030a0001c0008t0001g0205a0001c0008t0001g0262others(18): Show | 28 | 382 | 0.0733 | 0 | c.951 others(3): Show |
p.Ile others(6): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 8/23 | 1287/4406 | 951/3120 | 317/1039 | chr13 | TogoVar | ||
ATP12A_chr13_24675408_24717472 | 24692539 | T | G | synonymous_variant | LOW | HG01109.hp2 HG02280.hp1 |
a0006 | a0006c0018 | a0006c0018t0005 | a0006c0018t0005g0246a0006c0018t0005g0247 | 2 | 382 | 0.0052 | 0 | c.117 others(4): Show |
p.Thr others(6): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 9/23 | 1515/4406 | 1179/3120 | 393/1039 | chr13 | TogoVar | ||
ATP12A_chr13_24675408_24717472 | 24692794 | C | A | synonymous_variant | LOW | HG00323.hp1 HG00408.hp1 HG00438.hp1 others(106): Show |
a0001a0007a0011 | a0001c0002a0001c0007a0001c0022others(2): Show | a0001c0002t0001a0001c0002t0004a0001c0002t0005others(8): Show | a0001c0002t0001g0001a0001c0002t0001g0002a0001c0002t0001g0003others(83): Show | 109 | 382 | 0.2853 | 0 | c.127 others(4): Show |
p.Val others(6): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 10/23 | 1611/4406 | 1275/3120 | 425/1039 | chr13 | TogoVar | ||
ATP12A_chr13_24675408_24717472 | 24698732 | C | T | synonymous_variant | LOW | HG00099.hp1 HG00423.hp2 HG00438.hp2 others(87): Show |
a0001a0002a0004others(2): Show | a0001c0003a0001c0010a0001c0022others(5): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0004others(12): Show | a0001c0003t0001g0055a0001c0003t0001g0078a0001c0003t0001g0147others(80): Show | 90 | 382 | 0.2356 | 0 | c.158 others(4): Show |
p.Ile others(6): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 12/23 | 1923/4406 | 1587/3120 | 529/1039 | chr13 | TogoVar | ||
ATP12A_chr13_24675408_24717472 | 24700775 | C | T | synonymous_variant | LOW | HG00099.hp2 | a0001 | a0001c0027 | a0001c0027t0001 | a0001c0027t0001g0192 | 1 | 382 | 0.0026 | 0 | c.173 others(4): Show |
p.Asp others(6): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 13/23 | 2070/4406 | 1734/3120 | 578/1039 | chr13 | TogoVar | ||
ATP13A1_chr19_19640198_19668676 | 19645461 | C | T | synonymous_variant | LOW | HG00738.hp2 HG01243.hp2 |
a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0042 | 2 | 380 | 0.0053 | 0 | c.357 others(4): Show |
p.Gln others(7): Show |
ATP13A1 | ENSG00000105726.17 | transcript | ENST00000357324.11 | protein_coding | 26/26 | 3586/3849 | 3576/3615 | 1192/1204 | chr19 | TogoVar | ||
ATP13A1_chr19_19640198_19668676 | 19645949 | C | T | synonymous_variant | LOW | NA18973.hp1 NA19010.hp2 |
a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0088a0001c0009t0001g0107 | 2 | 380 | 0.0053 | 0 | c.328 others(4): Show |
p.Glu others(7): Show |
ATP13A1 | ENSG00000105726.17 | transcript | ENST00000357324.11 | protein_coding | 24/26 | 3295/3849 | 3285/3615 | 1095/1204 | chr19 | TogoVar | ||
ATP13A1_chr19_19640198_19668676 | 19647713 | T | C | synonymous_variant | LOW | HG02273.hp1 | a0006 | a0006c0015 | a0006c0015t0001 | a0006c0015t0001g0078 | 1 | 380 | 0.0026 | 0 | c.267 others(4): Show |
p.Arg others(6): Show |
ATP13A1 | ENSG00000105726.17 | transcript | ENST00000357324.11 | protein_coding | 20/26 | 2689/3849 | 2679/3615 | 893/1204 | chr19 | TogoVar | ||
ATP13A1_chr19_19640198_19668676 | 19647722 | G | A | synonymous_variant | LOW | HG00438.hp1 NA18986.hp1 |
a0001 | a0001c0011 | a0001c0011t0003 | a0001c0011t0003g0040 | 2 | 380 | 0.0053 | 0 | c.267 others(4): Show |
p.Val others(6): Show |
ATP13A1 | ENSG00000105726.17 | transcript | ENST00000357324.11 | protein_coding | 20/26 | 2680/3849 | 2670/3615 | 890/1204 | chr19 | TogoVar | ||
ATP13A1_chr19_19640198_19668676 | 19649589 | G | A | synonymous_variant | LOW | HG01975.hp2 HG01993.hp2 |
a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0080a0001c0012t0001g0081 | 2 | 380 | 0.0053 | 0 | c.261 others(4): Show |
p.Gly others(6): Show |
ATP13A1 | ENSG00000105726.17 | transcript | ENST00000357324.11 | protein_coding | 19/26 | 2620/3849 | 2610/3615 | 870/1204 | chr19 | TogoVar | ||
ATP13A1_chr19_19640198_19668676 | 19649912 | G | A | synonymous_variant | LOW | HG02559.hp1 | a0001 | a0001c0016 | a0001c0016t0001 | a0001c0016t0001g0139 | 1 | 380 | 0.0026 | 0 | c.236 others(4): Show |
p.Asp others(6): Show |
ATP13A1 | ENSG00000105726.17 | transcript | ENST00000357324.11 | protein_coding | 18/26 | 2374/3849 | 2364/3615 | 788/1204 | chr19 | TogoVar | ||
ATP13A1_chr19_19640198_19668676 | 19652673 | G | A | synonymous_variant | LOW | NA18747.hp2 | a0001 | a0001c0017 | a0001c0017t0001 | a0001c0017t0001g0143 | 1 | 380 | 0.0026 | 0 | c.214 others(4): Show |
p.Val others(6): Show |
ATP13A1 | ENSG00000105726.17 | transcript | ENST00000357324.11 | protein_coding | 16/26 | 2158/3849 | 2148/3615 | 716/1204 | chr19 | TogoVar | ||
ATP13A1_chr19_19640198_19668676 | 19652717 | G | T | synonymous_variant | LOW | NA18939.hp2 NA18951.hp2 NA18975.hp1 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0016a0001c0003t0001g0073 | 5 | 380 | 0.0132 | 0 | c.210 others(4): Show |
p.Arg others(6): Show |
ATP13A1 | ENSG00000105726.17 | transcript | ENST00000357324.11 | protein_coding | 16/26 | 2114/3849 | 2104/3615 | 702/1204 | chr19 | TogoVar | ||
ATP13A1_chr19_19640198_19668676 | 19655136 | G | A | synonymous_variant | LOW | HG01884.hp2 HG02486.hp1 NA20129.hp2 |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0059a0001c0006t0001g0128a0001c0006t0001g0129 | 3 | 380 | 0.0079 | 0 | c.163 others(4): Show |
p.Arg others(6): Show |
ATP13A1 | ENSG00000105726.17 | transcript | ENST00000357324.11 | protein_coding | 12/26 | 1648/3849 | 1638/3615 | 546/1204 | chr19 | TogoVar | ||
ATP13A1_chr19_19640198_19668676 | 19655332 | G | A | synonymous_variant | LOW | NA18983.hp2 | a0001 | a0001c0018 | a0001c0018t0001 | a0001c0018t0001g0096 | 1 | 380 | 0.0026 | 0 | c.151 others(4): Show |
p.Ile others(6): Show |
ATP13A1 | ENSG00000105726.17 | transcript | ENST00000357324.11 | protein_coding | 11/26 | 1528/3849 | 1518/3615 | 506/1204 | chr19 | TogoVar | ||
ATP13A1_chr19_19640198_19668676 | 19655917 | G | A | synonymous_variant | LOW | HG01516.hp1 HG01517.hp1 HG02615.hp2 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0052a0001c0007t0001g0053a0001c0007t0001g0132 | 3 | 380 | 0.0079 | 0 | c.123 others(4): Show |
p.Cys others(6): Show |
ATP13A1 | ENSG00000105726.17 | transcript | ENST00000357324.11 | protein_coding | 9/26 | 1240/3849 | 1230/3615 | 410/1204 | chr19 | TogoVar | ||
ATP13A1_chr19_19640198_19668676 | 19656163 | G | A | synonymous_variant | LOW | HG01168.hp1 | a0001 | a0001c0019 | a0001c0019t0001 | a0001c0019t0001g0098 | 1 | 380 | 0.0026 | 0 | c.110 others(4): Show |
p.Ser others(6): Show |
ATP13A1 | ENSG00000105726.17 | transcript | ENST00000357324.11 | protein_coding | 8/26 | 1114/3849 | 1104/3615 | 368/1204 | chr19 | TogoVar | ||
ATP13A1_chr19_19640198_19668676 | 19656675 | G | A | synonymous_variant | LOW | HG01358.hp1 HG02922.hp1 HG02965.hp2 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0012 | 5 | 380 | 0.0132 | 0 | c.106 others(4): Show |
p.Ser others(6): Show |
ATP13A1 | ENSG00000105726.17 | transcript | ENST00000357324.11 | protein_coding | 7/26 | 1078/3849 | 1068/3615 | 356/1204 | chr19 | TogoVar | ||
ATP13A1_chr19_19640198_19668676 | 19657090 | T | C | synonymous_variant | LOW | HG00423.hp1 HG02129.hp1 NA18945.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0021a0001c0002t0001g0032a0001c0002t0001g0064others(1): Show | 7 | 380 | 0.0184 | 0 | c.810 others(3): Show |
p.Leu others(6): Show |
ATP13A1 | ENSG00000105726.17 | transcript | ENST00000357324.11 | protein_coding | 5/26 | 820/3849 | 810/3615 | 270/1204 | chr19 | TogoVar | ||
ATP13A1_chr19_19640198_19668676 | 19657381 | C | T | synonymous_variant | LOW | HG02015.hp1 HG02074.hp2 |
a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0124a0001c0008t0001g0125 | 2 | 380 | 0.0053 | 0 | c.705 others(3): Show |
p.Ser others(6): Show |
ATP13A1 | ENSG00000105726.17 | transcript | ENST00000357324.11 | protein_coding | 4/26 | 715/3849 | 705/3615 | 235/1204 | chr19 | TogoVar | ||
ATP13A2_chr1_16980958_17016928 | 16986233 | G | C | synonymous_variant | LOW | NA19055.hp2 | a0001 | a0001c0021 | a0001c0021t0001 | a0001c0021t0001g0070 | 1 | 366 | 0.0027 | 0 | c.353 others(4): Show |
p.Gly others(7): Show |
ATP13A2 | ENSG00000159363.19 | transcript | ENST00000326735.13 | protein_coding | 29/29 | 3721/3996 | 3531/3543 | 1177/1180 | chr1 | TogoVar | ||
ATP13A2_chr1_16980958_17016928 | 16986248 | C | T | synonymous_variant | LOW | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(101): Show |
a0001a0005a0009 | a0001c0002a0001c0008a0001c0021others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0006others(6): Show | a0001c0002t0001g0001a0001c0002t0001g0007a0001c0002t0001g0008others(61): Show | 104 | 366 | 0.2842 | 0 | c.351 others(4): Show |
p.Pro others(7): Show |
ATP13A2 | ENSG00000159363.19 | transcript | ENST00000326735.13 | protein_coding | 29/29 | 3706/3996 | 3516/3543 | 1172/1180 | chr1 | TogoVar | ||
ATP13A2_chr1_16980958_17016928 | 16986335 | G | A | synonymous_variant | LOW | NA20300.hp2 | a0001 | a0001c0018 | a0001c0018t0001 | a0001c0018t0001g0239 | 1 | 366 | 0.0027 | 0 | c.342 others(4): Show |
p.Pro others(7): Show |
ATP13A2 | ENSG00000159363.19 | transcript | ENST00000326735.13 | protein_coding | 29/29 | 3619/3996 | 3429/3543 | 1143/1180 | chr1 | TogoVar | ||
ATP13A2_chr1_16980958_17016928 | 16986848 | G | A | synonymous_variant | LOW | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(107): Show |
a0001a0005a0009 | a0001c0002a0001c0006a0001c0008others(4): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0006others(8): Show | a0001c0002t0001g0001a0001c0002t0001g0007a0001c0002t0001g0008others(66): Show | 110 | 366 | 0.3006 | 0 | c.319 others(4): Show |
p.Ala others(7): Show |
ATP13A2 | ENSG00000159363.19 | transcript | ENST00000326735.13 | protein_coding | 27/29 | 3382/3996 | 3192/3543 | 1064/1180 | chr1 | TogoVar | ||
ATP13A2_chr1_16980958_17016928 | 16986896 | G | C | synonymous_variant | LOW | HG00642.hp1 HG01070.hp2 HG01071.hp2 others(16): Show |
a0001a0003 | a0001c0005a0001c0014a0003c0009 | a0001c0005t0001a0001c0005t0003a0001c0014t0001others(1): Show | a0001c0005t0001g0027a0001c0005t0001g0043a0001c0005t0001g0109others(15): Show | 19 | 366 | 0.0519 | 0 | c.314 others(4): Show |
p.Thr others(7): Show |
ATP13A2 | ENSG00000159363.19 | transcript | ENST00000326735.13 | protein_coding | 27/29 | 3334/3996 | 3144/3543 | 1048/1180 | chr1 | TogoVar | ||
ATP13A2_chr1_16980958_17016928 | 16987159 | C | T | synonymous_variant | LOW | HG00099.hp2 HG00280.hp1 HG00423.hp1 others(109): Show |
a0001a0004a0005others(1): Show | a0001c0002a0001c0006a0001c0008others(5): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0006others(9): Show | a0001c0002t0001g0001a0001c0002t0001g0007a0001c0002t0001g0008others(67): Show | 112 | 366 | 0.3060 | 0 | c.297 others(4): Show |
p.Val others(6): Show |
ATP13A2 | ENSG00000159363.19 | transcript | ENST00000326735.13 | protein_coding | 26/29 | 3160/3996 | 2970/3543 | 990/1180 | chr1 | TogoVar | ||
ATP13A2_chr1_16980958_17016928 | 16988207 | C | T | synonymous_variant | LOW | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(122): Show |
a0001a0005 | a0001c0001a0001c0016a0001c0018others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0014a0001c0001t0001g0015others(106): Show | 125 | 366 | 0.3415 | 0 | c.279 others(4): Show |
p.Ser others(6): Show |
ATP13A2 | ENSG00000159363.19 | transcript | ENST00000326735.13 | protein_coding | 25/29 | 2980/3996 | 2790/3543 | 930/1180 | chr1 | TogoVar | ||
ATP13A2_chr1_16980958_17016928 | 16988360 | C | T | synonymous_variant | LOW | HG02451.hp1 HG02622.hp2 |
a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0260a0001c0013t0001g0261 | 2 | 366 | 0.0055 | 0 | c.272 others(4): Show |
p.Ser others(6): Show |
ATP13A2 | ENSG00000159363.19 | transcript | ENST00000326735.13 | protein_coding | 24/29 | 2914/3996 | 2724/3543 | 908/1180 | chr1 | TogoVar | ||
ATP13A2_chr1_16980958_17016928 | 16988447 | G | A | synonymous_variant | LOW | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(107): Show |
a0001a0005a0009 | a0001c0002a0001c0006a0001c0008others(4): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0006others(8): Show | a0001c0002t0001g0001a0001c0002t0001g0007a0001c0002t0001g0008others(66): Show | 110 | 366 | 0.3006 | 0 | c.263 others(4): Show |
p.Gly others(6): Show |
ATP13A2 | ENSG00000159363.19 | transcript | ENST00000326735.13 | protein_coding | 24/29 | 2827/3996 | 2637/3543 | 879/1180 | chr1 | TogoVar | ||
ATP13A2_chr1_16980958_17016928 | 16990172 | G | A | synonymous_variant | LOW | NA18522.hp1 | a0001 | a0001c0024 | a0001c0024t0001 | a0001c0024t0001g0273 | 1 | 366 | 0.0027 | 0 | c.236 others(4): Show |
p.Leu others(6): Show |
ATP13A2 | ENSG00000159363.19 | transcript | ENST00000326735.13 | protein_coding | 21/29 | 2557/3996 | 2367/3543 | 789/1180 | chr1 | TogoVar | ||
ATP13A2_chr1_16980958_17016928 | 16992516 | G | A | synonymous_variant | LOW | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(151): Show |
a0001a0004a0005others(1): Show | a0001c0002a0001c0004a0001c0006others(11): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0006others(15): Show | a0001c0002t0001g0001a0001c0002t0001g0007a0001c0002t0001g0008others(102): Show | 154 | 366 | 0.4208 | 0 | c.181 others(4): Show |
p.Pro others(6): Show |
ATP13A2 | ENSG00000159363.19 | transcript | ENST00000326735.13 | protein_coding | 17/29 | 2005/3996 | 1815/3543 | 605/1180 | chr1 | TogoVar | ||
ATP13A2_chr1_16980958_17016928 | 16993761 | C | A | synonymous_variant | LOW | HG01891.hp1 HG02723.hp1 HG02970.hp2 others(2): Show |
a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0004a0001c0008t0001g0086 | 5 | 366 | 0.0137 | 0 | c.161 others(4): Show |
p.Leu others(6): Show |
ATP13A2 | ENSG00000159363.19 | transcript | ENST00000326735.13 | protein_coding | 16/29 | 1807/3996 | 1617/3543 | 539/1180 | chr1 | TogoVar | ||
ATP13A2_chr1_16980958_17016928 | 16993764 | G | A | synonymous_variant | LOW | HG01099.hp1 | a0001 | a0001c0025 | a0001c0025t0001 | a0001c0025t0001g0262 | 1 | 366 | 0.0027 | 0 | c.161 others(4): Show |
p.Pro others(6): Show |
ATP13A2 | ENSG00000159363.19 | transcript | ENST00000326735.13 | protein_coding | 16/29 | 1804/3996 | 1614/3543 | 538/1180 | chr1 | TogoVar | ||
ATP13A2_chr1_16980958_17016928 | 16993806 | G | A | synonymous_variant | LOW | HG03453.hp2 | a0001 | a0001c0016 | a0001c0016t0001 | a0001c0016t0001g0116 | 1 | 366 | 0.0027 | 0 | c.157 others(4): Show |
p.Asp others(6): Show |
ATP13A2 | ENSG00000159363.19 | transcript | ENST00000326735.13 | protein_coding | 16/29 | 1762/3996 | 1572/3543 | 524/1180 | chr1 | TogoVar | ||
ATP13A2_chr1_16980958_17016928 | 16995982 | G | A | synonymous_variant | LOW | HG04228.hp1 | a0001 | a0001c0026 | a0001c0026t0001 | a0001c0026t0001g0140 | 1 | 366 | 0.0027 | 0 | c.153 others(4): Show |
p.Phe others(6): Show |
ATP13A2 | ENSG00000159363.19 | transcript | ENST00000326735.13 | protein_coding | 15/29 | 1726/3996 | 1536/3543 | 512/1180 | chr1 | TogoVar | ||
ATP13A2_chr1_16980958_17016928 | 16997084 | C | T | synonymous_variant | LOW | HG03453.hp2 | a0001 | a0001c0016 | a0001c0016t0001 | a0001c0016t0001g0116 | 1 | 366 | 0.0027 | 0 | c.113 others(4): Show |
p.Gly others(6): Show |
ATP13A2 | ENSG00000159363.19 | transcript | ENST00000326735.13 | protein_coding | 12/29 | 1321/3996 | 1131/3543 | 377/1180 | chr1 | TogoVar | ||
ATP13A2_chr1_16980958_17016928 | 17000045 | G | A | synonymous_variant | LOW | HG01106.hp2 HG02559.hp2 HG02572.hp1 others(6): Show |
a0001 | a0001c0007a0001c0014a0001c0027 | a0001c0007t0001a0001c0014t0001a0001c0027t0001 | a0001c0007t0001g0041a0001c0007t0001g0096a0001c0007t0001g0098others(6): Show | 9 | 366 | 0.0246 | 0 | c.100 others(4): Show |
p.Ala others(6): Show |
ATP13A2 | ENSG00000159363.19 | transcript | ENST00000326735.13 | protein_coding | 11/29 | 1195/3996 | 1005/3543 | 335/1180 | chr1 | TogoVar |