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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP10A_chr15_25673712_25868327 | 25758514 | T | TATCACCT others(21): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 65 | 0.0154 | 28 | c.655 others(47): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758544 | C | CCACCTGC others(21): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 251 | 0.0040 | 28 | c.655 others(47): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758572 | C | CCACCTGC others(21): Show |
intron_variant | MODIFIER | HG03041.hp2 HG04184.hp2 |
a0003a0019 | a0003c0003a0019c0021 | a0003c0003t0002a0019c0021t0001 | a0003c0003t0002g0280 a0019c0021t0001g0025 |
2 | 241 | 0.0083 | 28 | c.655 others(47): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758598 | G | GACCACCT others(21): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 283 | 0.0035 | 28 | c.654 others(47): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758600 | T | TCACCTGC others(21): Show |
intron_variant | MODIFIER | HG02258.hp1 NA18995.hp1 |
a0003a0005 | a0003c0078a0005c0005 | a0003c0078t0001a0005c0005t0002 | a0003c0078t0001g0206 a0005c0005t0002g0286 |
2 | 189 | 0.0106 | 28 | c.654 others(47): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758656 | C | CCACCTGC others(21): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0184 | 1 | 239 | 0.0042 | 28 | c.654 others(47): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758725 | C | CCTCATTC others(21): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0032 | a0032c0035 | a0032c0035t0005 | a0032c0035t0005g0216 | 1 | 165 | 0.0061 | 28 | c.654 others(47): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758764 | T | TCACCTGC others(21): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0161 | 1 | 170 | 0.0059 | 28 | c.654 others(47): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758792 | C | CCACCTGC others(21): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0299 | 1 | 280 | 0.0036 | 28 | c.654 others(47): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758900 | T | TCACCTGC others(21): Show |
intron_variant | MODIFIER | HG00733.hp2 HG02145.hp2 HG02486.hp1 others(10): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0047a0002c0002others(4): Show | a0001c0001t0001a0001c0047t0001a0002c0002t0001others(4): Show | a0001c0001t0001g0060 a0001c0001t0001g0208 a0001c0001t0001g0210 others(10): Show |
13 | 296 | 0.0439 | 28 | c.654 others(47): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160637017 | T | TATCCATC others(21): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0015 | a0015c0026 | a0015c0026t0002 | a0015c0026t0002g0035 | 1 | 180 | 0.0056 | 28 | c.100 others(45): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 10/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160704914 | C | CTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02886.hp2 NA19058.hp1 others(1): Show |
a0001a0024 | a0001c0001a0001c0005a0024c0036 | a0001c0001t0001a0001c0001t0009a0001c0005t0012others(1): Show | a0001c0001t0001g0118 a0001c0001t0009g0031 a0001c0005t0012g0002 others(1): Show |
4 | 36 | 0.1111 | 28 | c.-20 others(49): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 3/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160704916 | T | TTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 |
a0002 | a0002c0010a0002c0037 | a0002c0010t0008a0002c0037t0006 | a0002c0010t0008g0014 a0002c0037t0006g0015 |
2 | 234 | 0.0085 | 28 | c.-20 others(49): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 3/25 | chr5 | TogoVar | |||||||
ATP11A_chr13_112685038_112892168 | 112811161 | A | AACACACA others(21): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0213 | 1 | 47 | 0.0213 | 28 | c.441 others(43): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11C_chrX_139721348_139938053 | 139866343 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0043 | 1 | 89 | 0.0112 | 28 | c.28- others(45): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | |||||||
ATP12A_chr13_24675408_24717472 | 24682392 | G | GGTGTGTG others(21): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0012 | a0012c0030 | a0012c0030t0001 | a0012c0030t0001g0250 | 1 | 325 | 0.0031 | 28 | c.168 others(43): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP12A_chr13_24675408_24717472 | 24708946 | A | AAAGAAAG others(21): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 271 | 0.0037 | 28 | c.249 others(45): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP12A_chr13_24675408_24717472 | 24708946 | A | AAAGAAAG others(21): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0055 | 1 | 271 | 0.0037 | 28 | c.249 others(45): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP13A4_chr3_193393967_193559895 | 193541248 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG02083.hp1 HG02818.hp2 |
a0002a0003 | a0002c0003a0003c0005 | a0002c0003t0002a0003c0005t0001 | a0002c0003t0002g0266 a0003c0005t0001g0280 |
2 | 220 | 0.0091 | 28 | c.60+ others(45): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 1/29 | chr3 | TogoVar | |||||||
ATP13A4_chr3_193393967_193559895 | 193541344 | T | TGATCACA others(21): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG01071.hp1 others(38): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(18): Show | a0001c0001t0001g0004 a0001c0001t0001g0216 a0001c0001t0001g0276 others(38): Show |
41 | 261 | 0.1571 | 28 | c.60+ others(45): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 1/29 | chr3 | TogoVar | |||||||
ATP1B4_chrX_120357089_120388237 | 120374822 | G | GTATATAT others(21): Show |
intron_variant | MODIFIER | HG02258.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0050 | 2 | 256 | 0.0078 | 28 | c.563 others(43): Show |
ATP1B4 | ENSG00000101892.12 | transcript | ENST00000218008.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89677954 | T | TTATATAT others(21): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0045 | 1 | 165 | 0.0061 | 28 | c.-22 others(49): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
ATP2B1_chr12_89583049_89713838 | 89677971 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0042 | 1 | 209 | 0.0048 | 28 | c.-22 others(49): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
ATP2B3_chrX_153512642_153587929 | 153584573 | A | AAGGGAGG others(21): Show |
downstream_gene_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0003 | a0001c0003t0027 | a0001c0003t0027g0227 | 1 | 260 | 0.0038 | 28 | c.*42 others(39): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 1645 | chrX | TogoVar | |||||||
ATP2B3_chrX_153512642_153587929 | 153584577 | A | AAGGGAGG others(21): Show |
downstream_gene_variant | MODIFIER | HG01934.hp1 HG02886.hp1 NA18977.hp1 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0002a0001c0003t0002 | a0001c0001t0001g0007 a0001c0002t0002g0190 a0001c0003t0002g0203 |
3 | 252 | 0.0119 | 28 | c.*42 others(39): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 1649 | chrX | TogoVar | |||||||
ATP2B3_chrX_153512642_153587929 | 153584581 | A | AAGGAAGG others(21): Show |
downstream_gene_variant | MODIFIER | HG02647.hp1 HG02965.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0073 |
3 | 4 | 0.7500 | 28 | c.*42 others(39): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 1653 | chrX | TogoVar | |||||||
ATP2B3_chrX_153512642_153587929 | 153584581 | A | AAGGGAGG others(21): Show |
downstream_gene_variant | MODIFIER | HG02717.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0011 | a0001c0001t0008g0017 a0001c0001t0011g0037 |
2 | 3 | 0.6667 | 28 | c.*42 others(39): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 1653 | chrX | TogoVar | |||||||
ATP2C2_chr16_84363538_84469187 | 84383735 | C | CTGTGTGT others(21): Show |
intron_variant | MODIFIER | HG02145.hp2 NA18955.hp2 NA18959.hp2 others(1): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0010others(1): Show | a0001c0002t0001a0001c0003t0001a0001c0010t0002others(1): Show | a0001c0002t0001g0114 a0001c0003t0001g0003 a0001c0010t0002g0132 others(1): Show |
4 | 379 | 0.0106 | 28 | c.100 others(47): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ATP2C2_chr16_84363538_84469187 | 84397655 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG00733.hp1 HG00735.hp1 HG01070.hp1 others(4): Show |
a0001a0002a0014 | a0001c0002a0001c0005a0001c0009others(3): Show | a0001c0002t0001a0001c0002t0003a0001c0005t0001others(4): Show | a0001c0002t0001g0123 a0001c0002t0003g0153 a0001c0005t0001g0207 others(4): Show |
7 | 26 | 0.2692 | 28 | c.100 others(43): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ATP2C2_chr16_84363538_84469187 | 84447669 | C | CATATATT others(21): Show |
intron_variant | MODIFIER | HG01891.hp1 HG01891.hp2 HG02109.hp1 others(4): Show |
a0001a0008a0019 | a0001c0018a0001c0029a0008c0058others(1): Show | a0001c0018t0004a0001c0029t0004a0008c0058t0002others(1): Show | a0001c0018t0004g0007 a0001c0018t0004g0013 a0001c0018t0004g0047 others(4): Show |
7 | 430 | 0.0163 | 28 | c.150 others(45): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 16/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ATP2C2_chr16_84363538_84469187 | 84447678 | C | CATATATT others(21): Show |
intron_variant | MODIFIER | HG01891.hp1 HG01891.hp2 HG02109.hp1 others(9): Show |
a0001a0008a0009others(1): Show | a0001c0001a0001c0005a0001c0018others(4): Show | a0001c0001t0001a0001c0005t0002a0001c0018t0004others(4): Show | a0001c0001t0001g0079 a0001c0005t0002g0076 a0001c0005t0002g0211 others(9): Show |
12 | 429 | 0.0280 | 28 | c.150 others(45): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 16/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ATP5MGL_chr22_42634803_42645601 | 42638728 | T | TAAAAAAA others(21): Show |
downstream_gene_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 61 | 0.0164 | 28 | c.*12 others(39): Show |
ATP5MGL | ENSG00000249222.1 | transcript | ENST00000505920.1 | protein_coding | 1074 | chr22 | TogoVar | |||||||
ATP6V0A2_chr12_123707353_123766755 | 123712055 | T | TCACACAC others(21): Show |
upstream_gene_variant | MODIFIER | HG01169.hp1 HG01517.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0014a0001c0002t0002 | a0001c0001t0014g0016 a0001c0002t0002g0014 |
2 | 173 | 0.0116 | 28 | c.-51 others(37): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 297 | chr12 | TogoVar | |||||||
ATP6V0A2_chr12_123707353_123766755 | 123762030 | T | TCCTGGCG others(21): Show |
downstream_gene_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0175 | 1 | 220 | 0.0045 | 28 | c.*39 others(39): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 276 | chr12 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138707350 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00639.hp2 HG00642.hp1 others(100): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0005a0001c0007others(25): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(36): Show | a0001c0001t0001g0037 a0001c0001t0001g0059 a0001c0001t0001g0070 others(100): Show |
103 | 351 | 0.2934 | 28 | c.243 others(45): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 21/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138745658 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02056.hp1 HG02559.hp2 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0046others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(2): Show | a0001c0001t0001g0093 a0002c0002t0001g0301 a0002c0002t0002g0189 others(2): Show |
5 | 119 | 0.0420 | 28 | c.132 others(45): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 13/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138784289 | T | TATACATA others(21): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02615.hp2 HG02622.hp2 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0005t0004others(3): Show | a0001c0001t0001g0034 a0001c0001t0001g0349 a0001c0001t0001g0355 others(7): Show |
10 | 168 | 0.0595 | 28 | c.-18 others(45): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 2/21 | chr7 | TogoVar | |||||||
ATP6V0D2_chr8_86093910_86159225 | 86126236 | C | CTATATAT others(21): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02280.hp2 HG02559.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0045 a0001c0001t0001g0056 a0001c0001t0001g0058 others(9): Show |
12 | 76 | 0.1579 | 28 | c.302 others(47): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42446080 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0282 | 1 | 15 | 0.0667 | 28 | c.295 others(45): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 31/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42635778 | C | CATATATA others(21): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0140 | 1 | 288 | 0.0035 | 28 | c.50- others(43): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42635780 | C | CATATATA others(21): Show |
intron_variant | MODIFIER | HG01256.hp1 HG02155.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0067 a0001c0001t0002g0015 |
2 | 226 | 0.0088 | 28 | c.50- others(43): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42635782 | C | CATATATA others(21): Show |
intron_variant | MODIFIER | HG03239.hp2 HG03704.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0037 | a0001c0001t0005g0282 a0001c0001t0037g0203 |
2 | 73 | 0.0274 | 28 | c.50- others(43): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42635810 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0186 | 1 | 295 | 0.0034 | 28 | c.50- others(43): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42636156 | A | ACACACAC others(21): Show |
intron_variant | MODIFIER | HG01515.hp1 HG03017.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0002 a0001c0001t0011g0004 |
2 | 206 | 0.0097 | 28 | c.50- others(43): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42636156 | A | ACACACAC others(21): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0143 | 1 | 205 | 0.0049 | 28 | c.50- others(43): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar | |||||||
ATP8A2_chr13_25366974_26030851 | 25465748 | C | CCTCCCTC others(21): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0035 | a0001c0001t0011g0062 a0001c0001t0011g0063 a0001c0001t0035g0043 |
3 | 38 | 0.0789 | 28 | c.77- others(43): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25465783 | C | CTCTTTCT others(21): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0088 | 1 | 86 | 0.0116 | 28 | c.77- others(43): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25609531 | T | TATTTGGG others(21): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01358.hp2 HG02015.hp1 others(13): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0050others(13): Show | a0001c0001t0002g0079 a0001c0001t0008g0073 a0001c0001t0050g0025 others(13): Show |
16 | 120 | 0.1333 | 28 | c.221 others(49): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 24/36 | chr13 | TogoVar | |||||||
ATP8A2_chr13_25366974_26030851 | 25889245 | C | CATATATA others(21): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0107 | 1 | 22 | 0.0455 | 28 | c.318 others(49): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25892478 | G | GTCTCTCT others(21): Show |
intron_variant | MODIFIER | HG02615.hp1 NA20129.hp2 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0050a0001c0009t0038 | a0001c0001t0050g0025 a0001c0009t0038g0112 |
2 | 56 | 0.0357 | 28 | c.318 others(49): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |