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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATL1_chr14_50555145_50638045 | 50566854 | TTATATTT others(7): Show |
T | intron_variant | MODIFIER | HG02809.hp1 HG03486.hp2 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0068a0001c0007t0001g0234 | 2 | 320 | 0.0063 | -14 | c.34+ others(29): Show |
ATL1 | ENSG00000198513.14 | transcript | ENST00000358385.12 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ATL1_chr14_50555145_50638045 | 50574931 | GTGTGTGT others(7): Show |
G | intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0129 | 1 | 320 | 0.0031 | -14 | c.35- others(31): Show |
ATL1 | ENSG00000198513.14 | transcript | ENST00000358385.12 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ATL1_chr14_50555145_50638045 | 50574935 | GTGTATAT others(7): Show |
G | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0085 | 1 | 320 | 0.0031 | -14 | c.35- others(31): Show |
ATL1 | ENSG00000198513.14 | transcript | ENST00000358385.12 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ATL2_chr2_38288954_38382273 | 38302314 | CCAGGTGT others(7): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01243.hp1 HG01884.hp1 others(20): Show |
a0003 | a0003c0004a0003c0005 | a0003c0004t0003a0003c0004t0008a0003c0004t0013others(7): Show | a0003c0004t0003g0029a0003c0004t0003g0033a0003c0004t0003g0034others(20): Show | 23 | 236 | 0.0975 | -14 | c.107 others(33): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 9/12 | chr2 | TogoVar | ||||||
ATL2_chr2_38288954_38382273 | 38305233 | AACTAAAG others(7): Show |
A | intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0131 | 1 | 236 | 0.0042 | -14 | c.107 others(33): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 9/12 | chr2 | TogoVar | ||||||
ATL2_chr2_38288954_38382273 | 38325685 | CACACACA others(7): Show |
C | intron_variant | MODIFIER | NA18955.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0179 | 1 | 236 | 0.0042 | -14 | c.364 others(31): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
ATL2_chr2_38288954_38382273 | 38325699 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0085 | 1 | 236 | 0.0042 | -14 | c.364 others(31): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
ATL2_chr2_38288954_38382273 | 38337486 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG02735.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0166 | 1 | 236 | 0.0042 | -14 | c.363 others(31): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
ATM_chr11_108218067_108374102 | 108317640 | TATATATA others(7): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG01099.hp1 HG02258.hp2 |
a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0029a0001c0010t0002g0030a0001c0010t0002g0032 | 3 | 304 | 0.0099 | -14 | c.634 others(31): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 43/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ATM_chr11_108218067_108374102 | 108354070 | AACACACA others(7): Show |
A | intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0152 | 1 | 304 | 0.0033 | -14 | c.878 others(31): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 60/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ATOSA_chr15_52576321_52684388 | 52588814 | TTTTCTTT others(7): Show |
T | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0098 | 1 | 362 | 0.0028 | -14 | c.280 others(33): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 10/12 | chr15 | TogoVar | ||||||
ATOX1_chr5_151737822_151763631 | 151738987 | AGTGTGTG others(7): Show |
A | downstream_gene_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 378 | 0.0027 | -14 | c.*40 others(25): Show |
ATOX1 | ENSG00000177556.12 | transcript | ENST00000313115.11 | protein_coding | 3834 | chr5 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25773818 | CCACACAC others(7): Show |
C | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 300 | 0.0033 | -14 | c.654 others(31): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25847609 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG02896.hp1 | a0008 | a0008c0006 | a0008c0006t0001 | a0008c0006t0001g0204 | 1 | 300 | 0.0033 | -14 | c.449 others(33): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 1/20 | chr15 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160693403 | AACACACA others(7): Show |
A | intron_variant | MODIFIER | HG01192.hp2 HG02145.hp2 HG02280.hp2 others(2): Show |
a0001a0002a0012 | a0001c0008a0002c0003a0002c0004others(1): Show | a0001c0008t0019a0002c0003t0005a0002c0003t0006others(2): Show | a0001c0008t0019g0087a0002c0003t0005g0192a0002c0003t0006g0220others(2): Show | 5 | 236 | 0.0212 | -14 | c.-20 others(33): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 3/25 | chr5 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160755814 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | NA19065.hp2 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0231 | 1 | 236 | 0.0042 | -14 | c.-33 others(35): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 2/25 | chr5 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160755834 | AAAAAATA others(7): Show |
A | intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 236 | 0.0042 | -14 | c.-33 others(35): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 2/25 | chr5 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160755836 | AAAATATA others(7): Show |
A | intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0041 | 1 | 236 | 0.0042 | -14 | c.-33 others(35): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 2/25 | chr5 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160755838 | AATATATA others(7): Show |
A | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0031 | 1 | 236 | 0.0042 | -14 | c.-33 others(35): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 2/25 | chr5 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160766337 | AACACACA others(7): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02622.hp2 NA21309.hp1 |
a0001a0002a0009 | a0001c0011a0002c0013a0009c0018 | a0001c0011t0035a0002c0013t0043a0009c0018t0021 | a0001c0011t0035g0195a0002c0013t0043g0181a0009c0018t0021g0205 | 3 | 236 | 0.0127 | -14 | c.-33 others(35): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 2/25 | chr5 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160787105 | GACACACA others(7): Show |
G | intron_variant | MODIFIER | HG01192.hp1 HG02145.hp1 HG03195.hp2 others(3): Show |
a0001a0009a0025 | a0001c0001a0001c0002a0009c0018others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0007others(2): Show | a0001c0001t0001g0077a0001c0001t0001g0117a0001c0001t0002g0075others(3): Show | 6 | 236 | 0.0254 | -14 | c.-57 others(33): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 1/25 | chr5 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160812008 | CAGAGACA others(7): Show |
C | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0002 | a0001c0002t0053 | a0001c0002t0053g0236 | 1 | 236 | 0.0042 | -14 | c.-57 others(35): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 1/25 | chr5 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160812014 | CAGAGACA others(7): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00438.hp2 others(51): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0017a0001c0001t0001g0019a0001c0001t0001g0060others(51): Show | 54 | 236 | 0.2288 | -14 | c.-57 others(35): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 1/25 | chr5 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160812020 | CAGAGAGA others(7): Show |
C | intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 236 | 0.0042 | -14 | c.-57 others(35): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 1/25 | chr5 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160822989 | CATATATA others(7): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG02074.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(3): Show | a0001c0001t0001g0064a0001c0001t0001g0077a0001c0001t0002g0069others(6): Show | 9 | 236 | 0.0381 | -14 | c.-57 others(35): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 1/25 | chr5 | TogoVar | ||||||
ATP10D_chr4_47480275_47598486 | 47528458 | GGTGTGTG others(7): Show |
G | intron_variant | MODIFIER | HG02723.hp2 NA21309.hp1 |
a0015a0038 | a0015c0015a0038c0057 | a0015c0015t0005a0038c0057t0008 | a0015c0015t0005g0037a0038c0057t0008g0128 | 2 | 332 | 0.0060 | -14 | c.776 others(31): Show |
ATP10D | ENSG00000145246.14 | transcript | ENST00000273859.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ATP10D_chr4_47480275_47598486 | 47528503 | GTGTGTGT others(7): Show |
G | intron_variant | MODIFIER | HG02451.hp2 | a0011 | a0011c0041 | a0011c0041t0008 | a0011c0041t0008g0221 | 1 | 332 | 0.0030 | -14 | c.776 others(31): Show |
ATP10D | ENSG00000145246.14 | transcript | ENST00000273859.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112698704 | TTTTATTT others(7): Show |
T | intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0040 | a0001c0040t0001 | a0001c0040t0001g0216 | 1 | 254 | 0.0039 | -14 | c.39+ others(29): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112740138 | CTCTCTCT others(7): Show |
C | intron_variant | MODIFIER | NA18971.hp2 NA19007.hp1 |
a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0191a0001c0002t0012g0252 | 2 | 254 | 0.0079 | -14 | c.40- others(31): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112747936 | TTCCAAAA others(7): Show |
T | intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0040 | a0001c0040t0001 | a0001c0040t0001g0216 | 1 | 254 | 0.0039 | -14 | c.40- others(31): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11B_chr3_182788504_182926629 | 182797707 | CAAAAAAG others(7): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG03579.hp1 |
a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0248a0001c0002t0009g0311 | 2 | 324 | 0.0062 | -14 | c.27+ others(29): Show |
ATP11B | ENSG00000058063.16 | transcript | ENST00000323116.10 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP11B_chr3_182788504_182926629 | 182854752 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02257.hp1 HG02818.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0009 | a0001c0002t0004g0001a0001c0002t0004g0313a0001c0002t0004g0314others(2): Show | 7 | 324 | 0.0216 | -14 | c.852 others(31): Show |
ATP11B | ENSG00000058063.16 | transcript | ENST00000323116.10 | protein_coding | 10/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP11B_chr3_182788504_182926629 | 182916637 | ATAGAAAG others(7): Show |
A | intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0123 | 1 | 324 | 0.0031 | -14 | c.345 others(33): Show |
ATP11B | ENSG00000058063.16 | transcript | ENST00000323116.10 | protein_coding | 29/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP11C_chrX_139721348_139938053 | 139742874 | AAAATATA others(7): Show |
A | intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 234 | 0.0043 | -14 | c.303 others(31): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 26/29 | chrX | TogoVar | ||||||
ATP11C_chrX_139721348_139938053 | 139742876 | AATATATA others(7): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG01255.hp1 HG02258.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083a0001c0001t0001g0096a0001c0001t0001g0133others(1): Show | 4 | 234 | 0.0171 | -14 | c.303 others(31): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 26/29 | chrX | TogoVar | ||||||
ATP11C_chrX_139721348_139938053 | 139769281 | CATATATA others(7): Show |
C | intron_variant | MODIFIER | HG00621.hp1 HG00639.hp2 HG02970.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(3): Show | a0001c0001t0001g0098a0001c0001t0001g0169a0001c0001t0003g0017others(5): Show | 8 | 234 | 0.0342 | -14 | c.221 others(31): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 19/29 | chrX | TogoVar | ||||||
ATP11C_chrX_139721348_139938053 | 139852452 | CGGGGGGG others(7): Show |
C | intron_variant | MODIFIER | HG03041.hp1 HG03209.hp1 HG03492.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009 | a0001c0001t0001g0144a0001c0001t0001g0175a0001c0001t0003g0027others(1): Show | 4 | 234 | 0.0171 | -14 | c.28- others(31): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | ||||||
ATP11C_chrX_139721348_139938053 | 139922223 | AATATATA others(7): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02145.hp1 others(7): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0004a0001c0001t0013a0003c0004t0004others(1): Show | a0001c0001t0004g0201a0001c0001t0013g0227a0003c0004t0004g0195others(7): Show | 10 | 234 | 0.0427 | -14 | c.27+ others(29): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | ||||||
ATP12A_chr13_24675408_24717472 | 24715387 | TCCTAGAA others(7): Show |
T | downstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 | 1 | 382 | 0.0026 | -14 | c.*38 others(25): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 2916 | chr13 | TogoVar | ||||||
ATP13A1_chr19_19640198_19668676 | 19666607 | GTTTTTTT others(7): Show |
G | upstream_gene_variant | MODIFIER | HG01175.hp1 HG01175.hp2 HG02257.hp1 others(4): Show |
a0001a0009 | a0001c0001a0009c0023 | a0001c0001t0001a0009c0023t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0017others(2): Show | 7 | 380 | 0.0184 | -14 | c.-29 others(25): Show |
ATP13A1 | ENSG00000105726.17 | transcript | ENST00000357324.11 | protein_coding | 2932 | chr19 | TogoVar | ||||||
ATP13A3_chr3_194397677_194492002 | 194399624 | GTTTTTTT others(7): Show |
G | downstream_gene_variant | MODIFIER | NA18966.hp1 NA19062.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019 | a0001c0001t0001g0059a0001c0001t0019g0289 | 2 | 304 | 0.0066 | -14 | c.*62 others(25): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 3052 | chr3 | TogoVar | ||||||
ATP13A3_chr3_194397677_194492002 | 194417396 | GACACACA others(7): Show |
G | intron_variant | MODIFIER | HG02145.hp2 HG03209.hp2 HG03486.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0224a0001c0001t0002g0225a0001c0001t0002g0244others(1): Show | 4 | 304 | 0.0132 | -14 | c.340 others(33): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 31/33 | chr3 | TogoVar | ||||||
ATP13A3_chr3_194397677_194492002 | 194449044 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | HG00597.hp2 HG01884.hp1 HG01934.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(11): Show | a0001c0001t0001g0159a0001c0001t0001g0161a0001c0001t0005g0157others(23): Show | 26 | 304 | 0.0855 | -14 | c.971 others(29): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 11/33 | chr3 | TogoVar | ||||||
ATP13A4_chr3_193393967_193559895 | 193412506 | AACACACA others(7): Show |
A | intron_variant | MODIFIER | HG02818.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0266 | 1 | 302 | 0.0033 | -14 | c.301 others(31): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 26/29 | chr3 | TogoVar | ||||||
ATP13A4_chr3_193393967_193559895 | 193418121 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00558.hp2 others(29): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0004a0001c0001t0001g0140a0001c0001t0001g0156others(29): Show | 32 | 302 | 0.1060 | -14 | c.284 others(33): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 25/29 | chr3 | TogoVar | ||||||
ATP13A4_chr3_193393967_193559895 | 193540527 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG00597.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0066 | 1 | 302 | 0.0033 | -14 | c.60+ others(31): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 1/29 | chr3 | TogoVar | ||||||
ATP13A4_chr3_193393967_193559895 | 193545973 | TTGTGTGT others(7): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG01256.hp2 HG01884.hp1 others(16): Show |
a0001a0002a0003 | a0001c0001a0001c0008a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0147a0001c0001t0001g0148a0001c0001t0001g0149others(16): Show | 19 | 302 | 0.0629 | -14 | c.60+ others(29): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 1/29 | chr3 | TogoVar | ||||||
ATP1A2_chr1_160110759_160148591 | 160112970 | TGTCACAC others(7): Show |
T | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00733.hp1 HG01261.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0143a0001c0001t0004g0138a0001c0001t0005g0033others(8): Show | 12 | 414 | 0.0290 | -14 | c.-28 others(25): Show |
ATP1A2 | ENSG00000018625.15 | transcript | ENST00000361216.8 | protein_coding | 2788 | chr1 | TogoVar | ||||||
ATP1B3_chr3_141871643_141931549 | 141874779 | CTTTTTTT others(7): Show |
C | upstream_gene_variant | MODIFIER | HG02056.hp2 HG02486.hp1 HG02602.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0015 | a0001c0001t0001g0032a0001c0001t0003g0023a0001c0001t0003g0025others(3): Show | 6 | 408 | 0.0147 | -14 | c.-20 others(25): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1863 | chr3 | TogoVar | ||||||
ATP1B3_chr3_141871643_141931549 | 141892651 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG02602.hp1 HG02738.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0025a0001c0001t0003g0075 | 2 | 408 | 0.0049 | -14 | c.110 others(33): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |