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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATOSA_chr15_52576321_52684388 | 52679815 | CCCTCCTC others(5): Show |
C | upstream_gene_variant | MODIFIER | HG03225.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0197 | 1 | 291 | 0.0034 | -12 | c.-11 others(23): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 428 | chr15 | TogoVar | |||||||
ATOSB_chr9_35099117_35120862 | 35113629 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | HG01496.hp2 HG02486.hp2 HG02630.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(1): Show | a0001c0001t0001g0018 a0001c0002t0001g0146 a0001c0006t0001g0151 others(1): Show |
7 | 75 | 0.0933 | -12 | c.-22 others(31): Show |
ATOSB | ENSG00000005238.20 | transcript | ENST00000322813.10 | protein_coding | 1/8 | chr9 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25705455 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00639.hp1 others(39): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0002a0003c0003others(8): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(9): Show | a0001c0001t0001g0009 a0001c0001t0001g0038 a0001c0001t0001g0039 others(39): Show |
42 | 298 | 0.1409 | -12 | c.257 others(31): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 12/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25714965 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG02630.hp1 | a0007 | a0007c0070 | a0007c0070t0001 | a0007c0070t0001g0218 | 1 | 120 | 0.0083 | -12 | c.177 others(29): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 9/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25728783 | TCCAAGCC others(5): Show |
T | intron_variant | MODIFIER | NA19004.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0142 | 1 | 298 | 0.0034 | -12 | c.741 others(29): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 3/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25750704 | TATGATGA others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(159): Show |
a0001a0002a0003others(29): Show | a0001c0001a0001c0014a0001c0019others(42): Show | a0001c0001t0001a0001c0001t0002a0001c0014t0001others(50): Show | a0001c0001t0001g0017 a0001c0001t0001g0039 a0001c0001t0001g0047 others(159): Show |
162 | 165 | 0.9818 | -12 | c.655 others(31): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25847609 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01123.hp2 HG02145.hp1 HG02145.hp2 others(9): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0009a0001c0047others(6): Show | a0001c0001t0001a0001c0009t0001a0001c0047t0001others(6): Show | a0001c0001t0001g0200 a0001c0001t0001g0208 a0001c0001t0001g0210 others(9): Show |
12 | 20 | 0.6000 | -12 | c.449 others(31): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 1/20 | chr15 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160612359 | CAGTTCTA others(5): Show |
C | intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0211 | 1 | 234 | 0.0043 | -12 | c.283 others(29): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 18/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160652430 | CTTATTTA others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(95): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0002a0001c0005others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0083 others(95): Show |
98 | 138 | 0.7101 | -12 | c.676 others(29): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160652790 | ATATATAA others(5): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG01496.hp2 HG01993.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0038 a0001c0001t0001g0162 a0001c0001t0001g0163 others(1): Show |
4 | 234 | 0.0171 | -12 | c.676 others(29): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160693403 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG02895.hp2 HG03195.hp2 |
a0008a0019 | a0008c0012a0019c0038 | a0008c0012t0017a0019c0038t0022 | a0008c0012t0017g0185 a0019c0038t0022g0133 |
2 | 39 | 0.0513 | -12 | c.-20 others(31): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 3/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160755834 | AAAAAATA others(5): Show |
A | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0027 | 1 | 201 | 0.0050 | -12 | c.-33 others(33): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 2/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160755836 | AAAATATA others(5): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00673.hp1 HG01074.hp2 others(10): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0002c0004others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0002g0024 a0001c0001t0002g0107 a0001c0001t0003g0099 others(10): Show |
13 | 193 | 0.0674 | -12 | c.-33 others(33): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 2/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160755838 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG01109.hp2 HG02698.hp2 others(3): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(3): Show | a0001c0001t0001g0151 a0001c0001t0004g0058 a0001c0001t0008g0168 others(3): Show |
6 | 184 | 0.0326 | -12 | c.-33 others(33): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 2/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160766337 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG02273.hp1 HG02451.hp2 |
a0002a0007 | a0002c0003a0007c0015 | a0002c0003t0006a0007c0015t0004 | a0002c0003t0006g0042 a0007c0015t0004g0186 |
2 | 21 | 0.0952 | -12 | c.-33 others(33): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 2/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160783562 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG02922.hp2 HG02965.hp1 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0182 |
3 | 72 | 0.0417 | -12 | c.-33 others(31): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 2/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160783586 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0135 | 1 | 234 | 0.0043 | -12 | c.-33 others(31): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 2/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160787105 | GACACACA others(5): Show |
G | intron_variant | MODIFIER | HG02486.hp1 HG02886.hp1 HG03540.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0023a0001c0006t0020a0001c0006t0024 | a0001c0001t0023g0027 a0001c0006t0020g0184 a0001c0006t0024g0108 |
3 | 63 | 0.0476 | -12 | c.-57 others(31): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 1/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160812014 | CAGAGACA others(5): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG01934.hp2 HG01993.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0008t0037others(1): Show | a0001c0001t0001g0121 a0001c0001t0002g0024 a0001c0001t0002g0130 others(2): Show |
5 | 172 | 0.0291 | -12 | c.-57 others(33): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 1/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160812020 | CAGAGAGA others(5): Show |
C | intron_variant | MODIFIER | NA19043.hp1 | a0023 | a0023c0024 | a0023c0024t0008 | a0023c0024t0008g0178 | 1 | 106 | 0.0094 | -12 | c.-57 others(33): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 1/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160812401 | GACTAAAT others(5): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG01099.hp1 HG01109.hp2 others(26): Show |
a0001a0002a0010others(1): Show | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0091 a0001c0001t0002g0079 a0001c0001t0003g0088 others(26): Show |
29 | 234 | 0.1239 | -12 | c.-57 others(33): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 1/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160822983 | CATATACA others(5): Show |
C | intron_variant | MODIFIER | HG01934.hp2 HG04228.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0006 | a0001c0001t0002g0130 a0001c0002t0006g0068 |
2 | 225 | 0.0089 | -12 | c.-57 others(33): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 1/25 | chr5 | TogoVar | |||||||
ATP10D_chr4_47480275_47598486 | 47482430 | TTCTTCCT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG03209.hp1 | a0008 | a0008c0010 | a0008c0010t0008 | a0008c0010t0008g0201 | 1 | 263 | 0.0038 | -12 | c.-31 others(23): Show |
ATP10D | ENSG00000145246.14 | transcript | ENST00000273859.8 | protein_coding | 2844 | chr4 | TogoVar | |||||||
ATP10D_chr4_47480275_47598486 | 47482448 | CTCTTCCT others(5): Show |
C | upstream_gene_variant | MODIFIER | NA19075.hp2 | a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0088 | 1 | 330 | 0.0030 | -12 | c.-31 others(23): Show |
ATP10D | ENSG00000145246.14 | transcript | ENST00000273859.8 | protein_coding | 2826 | chr4 | TogoVar | |||||||
ATP10D_chr4_47480275_47598486 | 47528458 | GGTGTGTG others(5): Show |
G | intron_variant | MODIFIER | HG04184.hp1 NA18984.hp1 NA18984.hp2 others(1): Show |
a0001a0005a0040 | a0001c0003a0005c0006a0040c0053 | a0001c0003t0001a0005c0006t0001a0040c0053t0001 | a0001c0003t0001g0004 a0005c0006t0001g0142 a0040c0053t0001g0173 |
4 | 82 | 0.0488 | -12 | c.776 others(29): Show |
ATP10D | ENSG00000145246.14 | transcript | ENST00000273859.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ATP10D_chr4_47480275_47598486 | 47528505 | GTGTGTGT others(5): Show |
G | intron_variant | MODIFIER | HG02257.hp1 | a0034 | a0034c0058 | a0034c0058t0008 | a0034c0058t0008g0075 | 1 | 329 | 0.0030 | -12 | c.776 others(29): Show |
ATP10D | ENSG00000145246.14 | transcript | ENST00000273859.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112710964 | GCCACCCA others(5): Show |
G | intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0039 | a0001c0039t0039 | a0001c0039t0039g0078 | 1 | 45 | 0.0222 | -12 | 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 | 112740142 | CTCTCTCT others(5): Show |
C | intron_variant | MODIFIER | HG02056.hp1 HG02976.hp1 HG03225.hp2 |
a0001 | a0001c0014a0001c0040 | a0001c0014t0003a0001c0014t0045a0001c0040t0001 | a0001c0014t0003g0178 a0001c0014t0045g0056 a0001c0040t0001g0216 |
3 | 252 | 0.0119 | -12 | c.40- others(29): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112740144 | CTCTCTAT others(5): Show |
C | intron_variant | MODIFIER | HG01261.hp1 | a0008 | a0008c0023 | a0008c0023t0002 | a0008c0023t0002g0064 | 1 | 251 | 0.0040 | -12 | c.40- others(29): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112804296 | CCCTCCTT others(5): Show |
C | intron_variant | MODIFIER | HG03195.hp1 NA18906.hp2 |
a0001 | a0001c0009 | a0001c0009t0003a0001c0009t0050 | a0001c0009t0003g0218 a0001c0009t0050g0045 |
2 | 194 | 0.0103 | -12 | c.163 others(27): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112811161 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | NA18962.hp1 NA19063.hp2 |
a0001 | a0001c0005a0001c0011 | a0001c0005t0001a0001c0011t0048 | a0001c0005t0001g0087 a0001c0011t0048g0011 |
2 | 48 | 0.0417 | -12 | c.441 others(27): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11B_chr3_182788504_182926629 | 182854752 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00609.hp2 HG00621.hp1 others(38): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0002a0001c0001t0005a0001c0001t0011others(5): Show | a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0135 others(38): Show |
41 | 60 | 0.6833 | -12 | c.852 others(29): Show |
ATP11B | ENSG00000058063.16 | transcript | ENST00000323116.10 | protein_coding | 10/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP11C_chrX_139721348_139938053 | 139756968 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00673.hp1 HG00733.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0015 | a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0178 others(19): Show |
22 | 196 | 0.1122 | -12 | c.270 others(29): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 23/29 | chrX | TogoVar | |||||||
ATP11C_chrX_139721348_139938053 | 139769281 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG00733.hp2 HG03710.hp1 NA19080.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(1): Show | a0001c0001t0001g0093 a0001c0001t0002g0195 a0001c0001t0009g0218 others(1): Show |
4 | 35 | 0.1143 | -12 | c.221 others(29): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 19/29 | chrX | TogoVar | |||||||
ATP11C_chrX_139721348_139938053 | 139803685 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045 | 1 | 34 | 0.0294 | -12 | c.555 others(27): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 6/29 | chrX | TogoVar | |||||||
ATP11C_chrX_139721348_139938053 | 139852452 | CGGGGGGG others(5): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG01109.hp1 HG01167.hp1 others(25): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0094 a0001c0001t0001g0111 a0001c0001t0001g0127 others(25): Show |
28 | 88 | 0.3182 | -12 | c.28- others(29): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | |||||||
ATP11C_chrX_139721348_139938053 | 139853408 | GAGAGGAA others(5): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG01175.hp1 HG01496.hp2 others(19): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(4): Show | a0001c0001t0001g0094 a0001c0001t0003g0015 a0001c0001t0003g0016 others(19): Show |
22 | 232 | 0.0948 | -12 | c.28- others(29): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | |||||||
ATP11C_chrX_139721348_139938053 | 139896546 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG03486.hp2 NA19043.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0010a0003c0004t0008 | a0001c0001t0010g0061 a0003c0004t0008g0006 |
2 | 18 | 0.1111 | -12 | c.27+ others(29): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | |||||||
ATP11C_chrX_139721348_139938053 | 139919444 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG04115.hp1 HG06807.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0008 | a0001c0001t0001g0172 a0003c0004t0008g0007 |
2 | 30 | 0.0667 | -12 | c.27+ others(29): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | |||||||
ATP11C_chrX_139721348_139938053 | 139922223 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG02109.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0003t0002 | a0001c0001t0001g0070 a0001c0001t0001g0137 a0001c0001t0001g0138 others(4): Show |
7 | 17 | 0.4118 | -12 | c.27+ others(27): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | |||||||
ATP12A_chr13_24675408_24717472 | 24696718 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00558.hp1 others(31): Show |
a0001a0002a0010 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0012a0001c0003t0001others(4): Show | a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 others(30): Show |
34 | 279 | 0.1219 | -12 | c.151 others(31): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP12A_chr13_24675408_24717472 | 24708896 | GAAAGGAA others(5): Show |
G | intron_variant | MODIFIER | HG01952.hp1 HG02683.hp1 HG04115.hp2 |
a0002 | a0002c0004a0002c0020 | a0002c0004t0003a0002c0020t0010 | a0002c0004t0003g0226 a0002c0004t0003g0232 a0002c0020t0010g0272 |
3 | 372 | 0.0081 | -12 | c.249 others(29): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 17/22 | chr13 | TogoVar | |||||||
ATP12A_chr13_24675408_24717472 | 24708900 | GGAAAGAA others(5): Show |
G | intron_variant | MODIFIER | HG03540.hp1 NA18961.hp1 NA18994.hp2 |
a0001a0008 | a0001c0002a0008c0013 | a0001c0002t0001a0008c0013t0006 | a0001c0002t0001g0001 a0001c0002t0001g0095 a0008c0013t0006g0009 |
3 | 207 | 0.0145 | -12 | c.249 others(29): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP12A_chr13_24675408_24717472 | 24708952 | AGAAAGAA others(5): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp2 HG01192.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0014 | a0001c0001t0012a0001c0003t0002a0001c0003t0004others(1): Show | a0001c0001t0012g0071 a0001c0003t0002g0042 a0001c0003t0002g0263 others(2): Show |
5 | 380 | 0.0132 | -12 | c.249 others(29): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP13A1_chr19_19640198_19668676 | 19648500 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 2 | 378 | 0.0053 | -12 | c.263 others(29): Show |
ATP13A1 | ENSG00000105726.17 | transcript | ENST00000357324.11 | protein_coding | 19/25 | chr19 | TogoVar | |||||||
ATP13A1_chr19_19640198_19668676 | 19658149 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00621.hp2 HG02074.hp1 NA18966.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 3 | 226 | 0.0133 | -12 | c.678 others(27): Show |
ATP13A1 | ENSG00000105726.17 | transcript | ENST00000357324.11 | protein_coding | 3/25 | chr19 | TogoVar | |||||||
ATP13A1_chr19_19640198_19668676 | 19666607 | GTTTTTTT others(5): Show |
G | upstream_gene_variant | MODIFIER | HG01192.hp1 HG02922.hp2 HG03579.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(1): Show |
6 | 67 | 0.0896 | -12 | c.-29 others(23): Show |
ATP13A1 | ENSG00000105726.17 | transcript | ENST00000357324.11 | protein_coding | 2932 | chr19 | TogoVar | |||||||
ATP13A1_chr19_19640198_19668676 | 19667309 | CAAAAAAA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0125 | 1 | 237 | 0.0042 | -12 | c.-36 others(23): Show |
ATP13A1 | ENSG00000105726.17 | transcript | ENST00000357324.11 | protein_coding | 3634 | chr19 | TogoVar | |||||||
ATP13A2_chr1_16980958_17016928 | 16986749 | CCCCAGGG others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(124): Show |
a0001a0004 | a0001c0001a0001c0004a0001c0016others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0004t0001others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(89): Show |
127 | 363 | 0.3499 | -12 | c.323 others(27): Show |
ATP13A2 | ENSG00000159363.19 | transcript | ENST00000326735.13 | protein_coding | 27/28 | chr1 | TogoVar | |||||||
ATP13A2_chr1_16980958_17016928 | 17003585 | CCACACAC others(5): Show |
C | intron_variant | MODIFIER | NA20129.hp1 NA20805.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0024 | 2 | 100 | 0.0200 | -12 | c.557 others(27): Show |
ATP13A2 | ENSG00000159363.19 | transcript | ENST00000326735.13 | protein_coding | 6/28 | chr1 | TogoVar |