view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 | 160812020 | C | CACAGAGA others(3): Show |
intron_variant | MODIFIER | HG01943.hp1 NA18961.hp1 NA18968.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0011others(2): Show | a0001c0001t0001g0091 a0001c0001t0003g0090 a0001c0002t0011g0084 others(2): Show |
5 | 110 | 0.0455 | 10 | c.-57 others(31): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 1/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160812020 | C | CAGAGACA others(3): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 106 | 0.0094 | 10 | c.-57 others(31): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 1/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160822989 | C | CATATATA others(3): Show |
intron_variant | MODIFIER | NA18968.hp1 NA19060.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0011 | a0001c0001t0003g0090 a0001c0002t0011g0084 |
2 | 132 | 0.0152 | 10 | c.-57 others(31): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 1/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160849618 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00621.hp2 HG01069.hp1 others(55): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0005others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0038 a0001c0001t0001g0051 a0001c0001t0001g0083 others(55): Show |
58 | 93 | 0.6237 | 10 | c.-57 others(29): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 1/25 | chr5 | TogoVar | |||||||
ATP10D_chr4_47480275_47598486 | 47572644 | C | CGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01109.hp1 HG02896.hp2 others(3): Show |
a0001a0002a0010 | a0001c0003a0002c0002a0010c0012 | a0001c0003t0001a0002c0002t0001a0002c0002t0013others(1): Show | a0001c0003t0001g0310 a0002c0002t0001g0144 a0002c0002t0001g0165 others(2): Show |
6 | 25 | 0.2400 | 10 | c.324 others(27): Show |
ATP10D | ENSG00000145246.14 | transcript | ENST00000273859.8 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112691481 | A | AAAGGGTG others(3): Show |
intron_variant | MODIFIER | HG01109.hp1 HG03098.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0052 | a0001c0002t0001g0032 a0001c0004t0052g0033 |
2 | 198 | 0.0101 | 10 | c.39+ others(25): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | chr13 | TogoVar | |||||||
ATP11A_chr13_112685038_112892168 | 112691483 | G | GGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0211 | 1 | 106 | 0.0094 | 10 | c.39+ others(25): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112719643 | A | AACTTCAG others(3): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01496.hp1 HG02717.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0019others(1): Show | a0001c0001t0001a0001c0001t0062a0001c0002t0008others(2): Show | a0001c0001t0001g0065 a0001c0001t0001g0219 a0001c0001t0062g0138 others(3): Show |
6 | 60 | 0.1000 | 10 | c.39+ others(27): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112740154 | A | ATATATAT others(3): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02647.hp2 HG02809.hp1 others(12): Show |
a0001a0012 | a0001c0001a0001c0004a0001c0006others(5): Show | a0001c0001t0002a0001c0001t0021a0001c0004t0003others(7): Show | a0001c0001t0002g0050 a0001c0001t0021g0240 a0001c0004t0003g0034 others(12): Show |
15 | 196 | 0.0765 | 10 | c.40- others(27): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112762078 | A | ACAGCGCC others(3): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0002 | a0002c0003 | a0002c0003t0007 | a0002c0003t0007g0186 | 1 | 252 | 0.0040 | 10 | c.40- others(27): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | chr13 | TogoVar | |||||||
ATP11A_chr13_112685038_112892168 | 112803901 | C | CCTCCCTG others(3): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00642.hp1 HG01106.hp2 others(2): Show |
a0001a0003 | a0001c0004a0001c0006a0001c0011others(2): Show | a0001c0004t0001a0001c0006t0001a0001c0011t0067others(2): Show | a0001c0004t0001g0107 a0001c0006t0001g0184 a0001c0011t0067g0131 others(2): Show |
5 | 252 | 0.0198 | 10 | c.163 others(27): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | chr13 | TogoVar | |||||||
ATP11A_chr13_112685038_112892168 | 112803919 | C | CTCCTTCC others(3): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00642.hp1 HG01106.hp2 others(2): Show |
a0001a0003 | a0001c0004a0001c0006a0001c0011others(2): Show | a0001c0004t0001a0001c0006t0001a0001c0011t0067others(2): Show | a0001c0004t0001g0107 a0001c0006t0001g0184 a0001c0011t0067g0131 others(2): Show |
5 | 251 | 0.0199 | 10 | c.163 others(27): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | chr13 | TogoVar | |||||||
ATP11A_chr13_112685038_112892168 | 112804156 | C | CCCCTCCT others(3): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02083.hp2 HG02280.hp1 others(1): Show |
a0001 | a0001c0002a0001c0013a0001c0022 | a0001c0002t0061a0001c0013t0004a0001c0022t0001 | a0001c0002t0061g0201 a0001c0013t0004g0084 a0001c0013t0004g0085 others(1): Show |
4 | 243 | 0.0165 | 10 | c.163 others(25): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112804252 | C | CCCCTCCT others(3): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00738.hp1 HG00741.hp1 others(5): Show |
a0001a0003 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(3): Show | a0001c0001t0001g0105 a0001c0001t0001g0210 a0001c0001t0001g0244 others(5): Show |
8 | 249 | 0.0321 | 10 | c.163 others(25): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112811161 | A | AACACACA others(3): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00733.hp1 HG00733.hp2 others(16): Show |
a0001a0003a0005others(2): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0019others(10): Show | a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0109 others(16): Show |
19 | 65 | 0.2923 | 10 | c.441 others(25): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11B_chr3_182788504_182926629 | 182793450 | C | CGGGCGGG others(3): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(29): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0002t0004a0001c0002t0006others(4): Show | a0001c0001t0001g0045 a0001c0002t0004g0009 a0001c0002t0004g0010 others(27): Show |
32 | 209 | 0.1531 | 10 | c.-31 others(19): Show |
ATP11B | ENSG00000058063.16 | transcript | ENST00000323116.10 | protein_coding | 53 | chr3 | TogoVar | |||||||
ATP11B_chr3_182788504_182926629 | 182911271 | G | GCCCCCCC others(3): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02965.hp2 |
a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0272 a0001c0002t0007g0273 |
2 | 111 | 0.0180 | 10 | c.331 others(29): Show |
ATP11B | ENSG00000058063.16 | transcript | ENST00000323116.10 | protein_coding | 28/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP11B_chr3_182788504_182926629 | 182921583 | T | TAAAGTTT others(3): Show |
3_prime_UTR_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0139 | 1 | 322 | 0.0031 | 10 | c.*34 others(21): Show |
ATP11B | ENSG00000058063.16 | transcript | ENST00000323116.10 | protein_coding | 30/30 | 3492 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP11C_chrX_139721348_139938053 | 139769281 | C | CATATATA others(3): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01934.hp1 HG01981.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002 | a0001c0001t0001g0086 a0001c0001t0001g0155 a0001c0001t0001g0162 others(3): Show |
6 | 37 | 0.1622 | 10 | c.221 others(27): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 19/29 | chrX | TogoVar | |||||||
ATP11C_chrX_139721348_139938053 | 139919444 | A | AACACACA others(3): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02896.hp1 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0027 | a0001c0001t0011g0227 a0001c0001t0027g0226 |
2 | 30 | 0.0667 | 10 | c.27+ others(27): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | |||||||
ATP11C_chrX_139721348_139938053 | 139922223 | A | AATATATA others(3): Show |
intron_variant | MODIFIER | HG01069.hp1 HG02071.hp1 HG02886.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0002a0002c0002t0002others(1): Show | a0001c0001t0001g0076 a0001c0001t0001g0081 a0001c0001t0001g0177 others(4): Show |
7 | 17 | 0.4118 | 10 | c.27+ others(25): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | |||||||
ATP12A_chr13_24675408_24717472 | 24682959 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01516.hp1 HG02083.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0004a0001c0001t0014a0001c0003t0001others(4): Show | a0001c0001t0004g0282 a0001c0001t0004g0285 a0001c0001t0014g0284 others(6): Show |
11 | 178 | 0.0618 | 10 | c.168 others(27): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP12A_chr13_24675408_24717472 | 24708868 | A | AAGAGAAA others(3): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0136 | 1 | 379 | 0.0026 | 10 | c.249 others(27): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP13A1_chr19_19640198_19668676 | 19666607 | G | GTTTTTTT others(3): Show |
upstream_gene_variant | MODIFIER | HG02717.hp1 NA19010.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0090 a0001c0001t0003g0009 |
2 | 63 | 0.0317 | 10 | c.-29 others(21): Show |
ATP13A1 | ENSG00000105726.17 | transcript | ENST00000357324.11 | protein_coding | 2932 | chr19 | TogoVar | |||||||
ATP13A2_chr1_16980958_17016928 | 16994197 | C | CTCTCTCA others(3): Show |
intron_variant | MODIFIER | HG00735.hp1 NA19004.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 a0001c0001t0001g0214 |
2 | 236 | 0.0085 | 10 | c.154 others(27): Show |
ATP13A2 | ENSG00000159363.19 | transcript | ENST00000326735.13 | protein_coding | 15/28 | chr1 | TogoVar | |||||||
ATP13A2_chr1_16980958_17016928 | 16997414 | C | CGGGGGGG others(3): Show |
intron_variant | MODIFIER | HG02083.hp2 NA18906.hp1 NA18966.hp2 |
a0001a0004 | a0001c0001a0004c0017 | a0001c0001t0001a0004c0017t0001 | a0001c0001t0001g0036 a0004c0017t0001g0179 |
3 | 183 | 0.0164 | 10 | c.104 others(27): Show |
ATP13A2 | ENSG00000159363.19 | transcript | ENST00000326735.13 | protein_coding | 11/28 | chr1 | TogoVar | |||||||
ATP13A2_chr1_16980958_17016928 | 17003585 | C | CCACACAC others(3): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01928.hp1 HG01975.hp2 others(32): Show |
a0001a0004 | a0001c0001a0001c0004a0004c0017 | a0001c0001t0001a0001c0001t0005a0001c0004t0001others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(22): Show |
35 | 133 | 0.2632 | 10 | c.557 others(25): Show |
ATP13A2 | ENSG00000159363.19 | transcript | ENST00000326735.13 | protein_coding | 6/28 | chr1 | TogoVar | |||||||
ATP13A3_chr3_194397677_194492002 | 194409693 | A | ATTTTTTT others(3): Show |
intron_variant | MODIFIER | NA18973.hp1 NA19005.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0047 a0001c0001t0006g0269 a0001c0001t0006g0277 |
3 | 121 | 0.0248 | 10 | c.357 others(29): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 33/33 | chr3 | TogoVar | |||||||
ATP13A3_chr3_194397677_194492002 | 194410296 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0134 | 1 | 136 | 0.0074 | 10 | c.357 others(29): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 33/33 | chr3 | TogoVar | |||||||
ATP13A3_chr3_194397677_194492002 | 194410331 | A | AAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0030 | 1 | 275 | 0.0036 | 10 | c.357 others(29): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 33/33 | chr3 | TogoVar | |||||||
ATP13A3_chr3_194397677_194492002 | 194415661 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0008 | 1 | 153 | 0.0065 | 10 | c.340 others(29): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 31/33 | chr3 | TogoVar | |||||||
ATP13A3_chr3_194397677_194492002 | 194417396 | G | GACACACA others(3): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00738.hp2 HG02083.hp1 others(12): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0002g0066 a0001c0001t0002g0101 a0001c0001t0002g0104 others(12): Show |
15 | 39 | 0.3846 | 10 | c.340 others(29): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 31/33 | chr3 | TogoVar | |||||||
ATP13A3_chr3_194397677_194492002 | 194421114 | G | GTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG02015.hp2 HG02280.hp1 HG02647.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(1): Show | a0001c0001t0001g0158 a0001c0001t0001g0192 a0001c0001t0001g0193 others(3): Show |
6 | 269 | 0.0223 | 10 | c.331 others(29): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 30/33 | chr3 | TogoVar | |||||||
ATP13A3_chr3_194397677_194492002 | 194421944 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00621.hp1 HG00738.hp1 others(58): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0018others(1): Show | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 others(58): Show |
61 | 195 | 0.3128 | 10 | c.331 others(29): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 30/33 | chr3 | TogoVar | |||||||
ATP13A3_chr3_194397677_194492002 | 194468392 | A | AAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02572.hp1 HG02615.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 others(2): Show |
5 | 302 | 0.0166 | 10 | c.-46 others(27): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 2/33 | chr3 | TogoVar | |||||||
ATP13A3_chr3_194397677_194492002 | 194483426 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00621.hp1 others(104): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0182 a0001c0001t0001g0191 a0001c0001t0001g0192 others(104): Show |
107 | 263 | 0.4068 | 10 | c.-47 others(27): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 2/33 | chr3 | TogoVar | |||||||
ATP13A4_chr3_193393967_193559895 | 193503995 | A | ATGTGTGT others(3): Show |
intron_variant | MODIFIER | HG01071.hp1 HG02080.hp1 NA18939.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0004t0001a0001c0004t0003others(3): Show | a0001c0001t0001g0276 a0001c0004t0001g0293 a0001c0004t0001g0294 others(9): Show |
12 | 272 | 0.0441 | 10 | c.235 others(27): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 2/29 | chr3 | TogoVar | |||||||
ATP13A4_chr3_193393967_193559895 | 193504020 | T | TGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0136 | 1 | 162 | 0.0062 | 10 | c.235 others(27): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 2/29 | chr3 | TogoVar | |||||||
ATP13A4_chr3_193393967_193559895 | 193543167 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG01071.hp1 HG02080.hp1 NA18940.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0004t0001a0001c0004t0003others(3): Show | a0001c0001t0001g0276 a0001c0004t0001g0269 a0001c0004t0001g0271 others(12): Show |
15 | 260 | 0.0577 | 10 | c.60+ others(27): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 1/29 | chr3 | TogoVar | |||||||
ATP13A4_chr3_193393967_193559895 | 193545973 | T | TTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG03834.hp1 NA18947.hp2 |
a0002a0004 | a0002c0002a0004c0009 | a0002c0002t0001a0004c0009t0003 | a0002c0002t0001g0103 a0004c0009t0003g0104 |
2 | 42 | 0.0476 | 10 | c.60+ others(25): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 1/29 | chr3 | TogoVar | |||||||
ATP13A5_chr3_193269789_193383753 | 193270069 | A | AATACACA others(3): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG00733.hp1 HG02622.hp1 others(6): Show |
a0001a0003a0009others(1): Show | a0001c0007a0003c0002a0009c0009others(1): Show | a0001c0007t0002a0003c0002t0001a0009c0009t0001others(1): Show | a0001c0007t0002g0189 a0001c0007t0002g0190 a0001c0007t0002g0191 others(6): Show |
9 | 51 | 0.1765 | 10 | c.*49 others(21): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 4719 | chr3 | TogoVar | |||||||
ATP13A5_chr3_193269789_193383753 | 193354940 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02615.hp2 NA20129.hp1 |
a0003a0025a0034 | a0003c0002a0025c0045a0034c0044 | a0003c0002t0002a0025c0045t0001a0034c0044t0001 | a0003c0002t0002g0186 a0025c0045t0001g0095 a0034c0044t0001g0017 |
3 | 116 | 0.0259 | 10 | c.537 others(25): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 5/29 | chr3 | TogoVar | |||||||
ATP13A5_chr3_193269789_193383753 | 193368392 | T | TTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00741.hp2 HG01070.hp2 others(25): Show |
a0001a0004a0005others(4): Show | a0001c0007a0004c0003a0005c0005others(4): Show | a0001c0007t0001a0004c0003t0002a0005c0005t0002others(4): Show | a0001c0007t0001g0178 a0001c0007t0001g0180 a0004c0003t0002g0219 others(23): Show |
28 | 41 | 0.6829 | 10 | c.64- others(25): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 1/29 | chr3 | TogoVar | |||||||
ATP13A5_chr3_193269789_193383753 | 193374301 | C | CACACACA others(3): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0191 | 1 | 33 | 0.0303 | 10 | c.63+ others(25): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 1/29 | chr3 | TogoVar | |||||||
ATP1A1_chr1_116368244_116409774 | 116393232 | G | GGGAGGTG others(3): Show |
intron_variant | MODIFIER | HG01433.hp1 HG01884.hp1 HG01891.hp2 others(28): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0001a0001c0003t0002others(2): Show | a0001c0002t0002g0074 a0001c0003t0001g0021 a0001c0003t0001g0070 others(21): Show |
31 | 334 | 0.0928 | 10 | c.146 others(27): Show |
ATP1A1 | ENSG00000163399.16 | transcript | ENST00000295598.10 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP1A2_chr1_160110759_160148591 | 160119256 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0243 | 1 | 2 | 0.5000 | 10 | c.13- others(25): Show |
ATP1A2 | ENSG00000018625.15 | transcript | ENST00000361216.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP1A4_chr1_160146603_160191980 | 160186086 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01515.hp2 HG01517.hp2 others(8): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0005a0001c0042others(7): Show | a0001c0001t0001a0001c0005t0001a0001c0042t0001others(7): Show | a0001c0001t0001g0342 a0001c0005t0001g0065 a0001c0042t0001g0106 others(7): Show |
11 | 106 | 0.1038 | 10 | c.297 others(27): Show |
ATP1A4 | ENSG00000132681.17 | transcript | ENST00000368081.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP1B1_chr1_169101690_169137719 | 169135014 | C | CAAAAAAA others(3): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0092 | 1 | 80 | 0.0125 | 10 | c.*34 others(21): Show |
ATP1B1 | ENSG00000143153.14 | transcript | ENST00000367815.9 | protein_coding | 2296 | chr1 | TogoVar | |||||||
ATP1B2_chr17_7645926_7662770 | 7660810 | C | CAAAAAAA others(3): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 HG03688.hp1 HG04184.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0011a0001c0001t0018a0002c0003t0037 | a0001c0001t0011g0003 a0001c0001t0018g0003 a0002c0003t0037g0007 |
3 | 50 | 0.0600 | 10 | c.*49 others(21): Show |
ATP1B2 | ENSG00000129244.9 | transcript | ENST00000250111.9 | protein_coding | 3041 | chr17 | TogoVar | |||||||
ATP1B3_chr3_141871643_141931549 | 141874438 | A | AAAATATA others(3): Show |
upstream_gene_variant | MODIFIER | HG02074.hp1 NA18944.hp1 NA19043.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0014a0001c0004t0001 | a0001c0001t0002g0270 a0001c0001t0014g0289 a0001c0004t0001g0302 |
3 | 108 | 0.0278 | 10 | c.-23 others(21): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 2204 | chr3 | TogoVar |