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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATM_chr11_108218067_108374102 | 108372174 | T | TATTCATT others(5): Show |
downstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0289 | 1 | 241 | 0.0041 | 12 | c.*66 others(23): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 3073 | chr11 | TogoVar | |||||||
ATN1_chr12_6922959_6947321 | 6925117 | C | CGTGTGCG others(5): Show |
upstream_gene_variant | MODIFIER | NA18943.hp2 NA18964.hp1 NA18974.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0101 |
3 | 185 | 0.0162 | 12 | c.-34 others(23): Show |
ATN1 | ENSG00000111676.15 | transcript | ENST00000396684.3 | protein_coding | 2841 | chr12 | TogoVar | |||||||
ATN1_chr12_6922959_6947321 | 6925117 | C | CGTGTGTG others(5): Show |
upstream_gene_variant | MODIFIER | HG01261.hp2 HG01358.hp2 HG01496.hp2 others(16): Show |
a0001a0010 | a0001c0001a0001c0002a0010c0022 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0045 others(5): Show |
19 | 201 | 0.0945 | 12 | c.-34 others(23): Show |
ATN1 | ENSG00000111676.15 | transcript | ENST00000396684.3 | protein_coding | 2841 | chr12 | TogoVar | |||||||
ATN1_chr12_6922959_6947321 | 6925141 | T | TGTGTGTG others(5): Show |
upstream_gene_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 355 | 0.0028 | 12 | c.-34 others(23): Show |
ATN1 | ENSG00000111676.15 | transcript | ENST00000396684.3 | protein_coding | 2817 | chr12 | TogoVar | |||||||
ATN1_chr12_6922959_6947321 | 6936728 | A | ACAGCAGC others(5): Show |
disruptive_inframe_insertion | MODERATE | HG00438.hp2 HG00544.hp1 HG02132.hp1 others(7): Show |
a0001a0007 | a0001c0001a0001c0006a0007c0014 | a0001c0001t0001a0001c0006t0001a0007c0014t0001 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0011 others(5): Show |
10 | 131 | 0.0763 | 12 | c.149 others(21): Show |
p.Gln others(13): Show |
ATN1 | ENSG00000111676.15 | transcript | ENST00000396684.3 | protein_coding | 5/10 | 2097/4702 | 1509/3573 | 503/1190 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
ATOH1_chr4_93823753_93835964 | 93831405 | C | CCTCTCTC others(5): Show |
downstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0000 | 1 | 225 | 0.0044 | 12 | c.*14 others(23): Show |
ATOH1 | ENSG00000172238.6 | transcript | ENST00000306011.6 | protein_coding | 442 | chr4 | TogoVar | |||||||
ATOH8_chr2_85748991_85796383 | 85763821 | C | CGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00423.hp2 others(37): Show |
a0001a0002a0003 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0020 a0001c0001t0001g0093 a0001c0001t0001g0142 others(31): Show |
40 | 138 | 0.2899 | 12 | c.769 others(27): Show |
ATOH8 | ENSG00000168874.13 | transcript | ENST00000306279.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATOH8_chr2_85748991_85796383 | 85793387 | A | AACACACA others(5): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(43): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0004others(3): Show | a0001c0001t0002a0001c0001t0009a0002c0002t0002others(8): Show | a0001c0001t0002g0018 a0001c0001t0002g0025 a0001c0001t0002g0071 others(38): Show |
46 | 343 | 0.1341 | 12 | c.*64 others(23): Show |
ATOH8 | ENSG00000168874.13 | transcript | ENST00000306279.4 | protein_coding | 2005 | chr2 | TogoVar | |||||||
ATOSA_chr15_52576321_52684388 | 52583390 | G | GTCATTCA others(5): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00673.hp2 HG01978.hp2 others(33): Show |
a0001a0005 | a0001c0001a0001c0003a0005c0008others(1): Show | a0001c0001t0003a0001c0003t0001a0005c0008t0001others(1): Show | a0001c0001t0003g0103 a0001c0001t0003g0105 a0001c0001t0003g0107 others(27): Show |
36 | 142 | 0.2535 | 12 | c.307 others(31): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 12/12 | chr15 | TogoVar | |||||||
ATOSA_chr15_52576321_52684388 | 52640571 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG06807.hp1 NA18522.hp2 |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0118 a0004c0005t0001g0120 |
2 | 40 | 0.0500 | 12 | c.17- others(29): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 2/12 | chr15 | TogoVar | |||||||
ATOSA_chr15_52576321_52684388 | 52672172 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG00733.hp1 HG03453.hp1 HG04115.hp2 others(1): Show |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0194 a0004c0005t0001g0195 a0004c0005t0001g0245 others(1): Show |
4 | 140 | 0.0286 | 12 | c.16+ others(27): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 2/12 | chr15 | TogoVar | |||||||
ATOSB_chr9_35099117_35120862 | 35107484 | C | CACGGTGA others(5): Show |
conservative_inframe_insertion | MODERATE | HG01256.hp2 | a0007 | a0007c0019 | a0007c0019t0001 | a0007c0019t0001g0138 | 1 | 430 | 0.0023 | 12 | c.790 others(19): Show |
p.Arg others(24): Show |
ATOSB | ENSG00000005238.20 | transcript | ENST00000322813.10 | protein_coding | 3/9 | 1067/2998 | 790/1617 | 264/538 | chr9 | TogoVar | |||
ATP10A_chr15_25673712_25868327 | 25777092 | C | CCTGCATG others(5): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02809.hp2 HG02965.hp2 others(3): Show |
a0001a0002a0017others(2): Show | a0001c0001a0002c0002a0017c0023others(2): Show | a0001c0001t0001a0002c0002t0001a0017c0023t0001others(2): Show | a0001c0001t0001g0038 a0002c0002t0001g0029 a0002c0002t0001g0030 others(3): Show |
6 | 289 | 0.0208 | 12 | c.654 others(29): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25777096 | C | CATGTGTG others(5): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01891.hp1 HG01993.hp1 others(8): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(4): Show | a0001c0001t0001g0219 a0001c0001t0001g0225 a0002c0002t0001g0123 others(8): Show |
11 | 126 | 0.0873 | 12 | c.654 others(29): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25779845 | A | AACACACA others(5): Show |
intron_variant | MODIFIER | HG01928.hp1 HG01981.hp1 HG02135.hp2 others(8): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(4): Show | a0001c0001t0001g0219 a0001c0001t0001g0276 a0002c0002t0001g0019 others(8): Show |
11 | 39 | 0.2821 | 12 | c.654 others(29): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25789565 | A | AGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01123.hp2 HG01943.hp2 others(14): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0003c0003others(6): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(7): Show | a0001c0001t0001g0047 a0001c0001t0001g0272 a0002c0002t0001g0184 others(14): Show |
17 | 137 | 0.1241 | 12 | c.450 others(29): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 1/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25789591 | T | TGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG01496.hp1 others(6): Show |
a0001a0003a0006others(3): Show | a0001c0001a0003c0064a0006c0007others(3): Show | a0001c0001t0001a0003c0064t0001a0006c0007t0001others(3): Show | a0001c0001t0001g0245 a0001c0001t0001g0262 a0001c0001t0001g0264 others(6): Show |
9 | 297 | 0.0303 | 12 | c.450 others(29): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 1/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25806327 | C | CTTTTCTT others(5): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03139.hp2 HG03209.hp1 others(1): Show |
a0001a0003a0007others(1): Show | a0001c0019a0003c0003a0007c0016others(1): Show | a0001c0019t0003a0003c0003t0003a0007c0016t0003others(1): Show | a0001c0019t0003g0003 a0003c0003t0003g0001 a0007c0016t0003g0002 others(1): Show |
4 | 125 | 0.0320 | 12 | c.450 others(31): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 1/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25837584 | T | TGATGCTG others(5): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 298 | 0.0034 | 12 | c.449 others(31): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 1/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25855541 | A | AACACACA others(5): Show |
intron_variant | MODIFIER | HG00733.hp1 NA19043.hp1 |
a0002a0049 | a0002c0002a0049c0050 | a0002c0002t0001a0049c0050t0001 | a0002c0002t0001g0046 a0049c0050t0001g0054 |
2 | 15 | 0.1333 | 12 | c.449 others(29): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 1/20 | chr15 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160560289 | G | GGTGTGTG others(5): Show |
downstream_gene_variant | MODIFIER | NA21309.hp2 | a0010 | a0010c0014 | a0010c0014t0050 | a0010c0014t0050g0106 | 1 | 137 | 0.0073 | 12 | c.*51 others(23): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 2830 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160637021 | C | CATCCATC others(5): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0011 | a0001c0011t0035 | a0001c0011t0035g0195 | 1 | 180 | 0.0056 | 12 | c.100 others(29): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 10/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160637025 | C | CATCCATC others(5): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(73): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0018 a0001c0001t0001g0038 a0001c0001t0001g0064 others(73): Show |
76 | 234 | 0.3248 | 12 | c.100 others(29): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 10/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160637041 | A | AATCCATC others(5): Show |
intron_variant | MODIFIER | HG02809.hp1 HG03195.hp2 |
a0001a0019 | a0001c0011a0019c0038 | a0001c0011t0041a0019c0038t0022 | a0001c0011t0041g0001 a0019c0038t0022g0133 |
2 | 30 | 0.0667 | 12 | c.100 others(29): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 10/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160654695 | G | GTCGTCAT others(5): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02486.hp1 HG02717.hp1 others(7): Show |
a0001a0007a0008others(3): Show | a0001c0005a0001c0006a0007c0015others(4): Show | a0001c0005t0012a0001c0006t0024a0007c0015t0004others(4): Show | a0001c0005t0012g0002 a0001c0005t0012g0004 a0001c0006t0024g0108 others(7): Show |
10 | 226 | 0.0442 | 12 | c.676 others(29): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160693403 | A | AACACACA others(5): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02622.hp1 HG02818.hp2 others(1): Show |
a0001a0006 | a0001c0002a0006c0018 | a0001c0002t0007a0006c0018t0021a0006c0018t0034 | a0001c0002t0007g0213 a0001c0002t0007g0229 a0006c0018t0021g0205 others(1): Show |
4 | 41 | 0.0976 | 12 | c.-20 others(31): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 3/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160703620 | G | GCACCCGC others(5): Show |
intron_variant | MODIFIER | HG03225.hp2 NA18522.hp1 |
a0003 | a0003c0007 | a0003c0007t0013a0003c0007t0015 | a0003c0007t0013g0189 a0003c0007t0015g0215 |
2 | 232 | 0.0086 | 12 | c.-20 others(33): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 3/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160703620 | G | GCACCTGC others(5): Show |
intron_variant | MODIFIER | HG01243.hp2 HG03195.hp2 |
a0001a0019 | a0001c0008a0019c0038 | a0001c0008t0045a0019c0038t0022 | a0001c0008t0045g0026 a0019c0038t0022g0133 |
2 | 232 | 0.0086 | 12 | c.-20 others(33): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 3/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160704914 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0008 | a0008c0012 | a0008c0012t0017 | a0008c0012t0017g0196 | 1 | 33 | 0.0303 | 12 | c.-20 others(33): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 3/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160706943 | A | ATATTTAT others(5): Show |
intron_variant | MODIFIER | HG03225.hp2 NA18522.hp1 |
a0003 | a0003c0007 | a0003c0007t0013a0003c0007t0015 | a0003c0007t0013g0189 a0003c0007t0015g0215 |
2 | 231 | 0.0087 | 12 | c.-20 others(31): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 3/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160715688 | C | CTTTATTT others(5): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01168.hp2 HG01192.hp2 others(57): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0005others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0038 a0001c0001t0001g0060 a0001c0001t0001g0065 others(57): Show |
60 | 71 | 0.8451 | 12 | c.-20 others(31): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 3/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160766337 | A | AACACACA others(5): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0131 | 1 | 20 | 0.0500 | 12 | c.-33 others(33): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 2/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160812020 | C | CACAGAGA others(5): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01256.hp1 HG02027.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0002c0003t0006 | a0001c0001t0003g0092 a0001c0001t0003g0096 a0002c0003t0006g0100 |
3 | 108 | 0.0278 | 12 | c.-57 others(33): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 1/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160816190 | T | TAAAAAAC others(5): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00438.hp2 others(62): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0005others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0060 others(62): Show |
65 | 234 | 0.2778 | 12 | c.-57 others(33): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 1/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160849618 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00673.hp2 others(20): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0005others(8): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(15): Show | a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0010 others(20): Show |
23 | 58 | 0.3966 | 12 | c.-57 others(31): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 1/25 | chr5 | TogoVar | |||||||
ATP10D_chr4_47480275_47598486 | 47482454 | C | CTCTTCTT others(5): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 HG03130.hp1 NA19043.hp1 others(1): Show |
a0002a0012a0024others(1): Show | a0002c0008a0012c0013a0024c0028others(1): Show | a0002c0008t0001a0012c0013t0008a0024c0028t0008others(1): Show | a0002c0008t0001g0126 a0012c0013t0008g0128 a0024c0028t0008g0202 others(1): Show |
4 | 219 | 0.0183 | 12 | c.-31 others(23): Show |
ATP10D | ENSG00000145246.14 | transcript | ENST00000273859.8 | protein_coding | 2820 | chr4 | TogoVar | |||||||
ATP10D_chr4_47480275_47598486 | 47587569 | T | TACCACAG others(5): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02257.hp1 HG02451.hp2 others(6): Show |
a0011a0012a0024others(1): Show | a0011c0041a0012c0013a0024c0028others(1): Show | a0011c0041t0008a0012c0013t0008a0024c0028t0008others(1): Show | a0011c0041t0008g0214 a0012c0013t0008g0017 a0012c0013t0008g0029 others(6): Show |
9 | 330 | 0.0273 | 12 | c.394 others(29): Show |
ATP10D | ENSG00000145246.14 | transcript | ENST00000273859.8 | protein_coding | 22/22 | chr4 | TogoVar | |||||||
ATP11A_chr13_112685038_112892168 | 112691483 | G | GGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0002 | a0001c0002t0041 | a0001c0002t0041g0212 | 1 | 106 | 0.0094 | 12 | 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 | 112762030 | A | AACACCCC others(5): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0002 | a0002c0003 | a0002c0003t0007 | a0002c0003t0007g0186 | 1 | 252 | 0.0040 | 12 | c.40- others(29): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | chr13 | TogoVar | |||||||
ATP11A_chr13_112685038_112892168 | 112792180 | A | AGGAAAGG others(5): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01496.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0020 | a0001c0001t0001g0122 a0001c0005t0020g0144 |
2 | 252 | 0.0079 | 12 | c.162 others(29): 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(5): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00642.hp1 others(31): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0022others(23): Show | a0001c0001t0001g0068 a0001c0001t0001g0122 a0001c0001t0001g0146 others(31): Show |
34 | 80 | 0.4250 | 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 | 182924620 | T | TCTAAAGA others(5): Show |
downstream_gene_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 322 | 0.0031 | 12 | c.*65 others(23): Show |
ATP11B | ENSG00000058063.16 | transcript | ENST00000323116.10 | protein_coding | 2992 | chr3 | TogoVar | |||||||
ATP11C_chrX_139721348_139938053 | 139769281 | C | CATATATA others(5): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00673.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(1): Show | a0001c0001t0001g0103 a0001c0001t0001g0128 a0001c0001t0002g0183 others(4): Show |
7 | 38 | 0.1842 | 12 | c.221 others(29): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 19/29 | chrX | TogoVar | |||||||
ATP11C_chrX_139721348_139938053 | 139922223 | A | AATATATA others(5): Show |
intron_variant | MODIFIER | NA18953.hp1 NA19067.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0046 a0001c0003t0002g0059 |
2 | 12 | 0.1667 | 12 | c.27+ others(27): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | |||||||
ATP12A_chr13_24675408_24717472 | 24675520 | A | AAAAGCAT others(5): Show |
upstream_gene_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0207 | 1 | 380 | 0.0026 | 12 | c.-52 others(23): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 4887 | chr13 | TogoVar | |||||||
ATP12A_chr13_24675408_24717472 | 24682959 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01169.hp2 HG02135.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0020 | a0001c0001t0004a0001c0003t0002a0001c0003t0004others(1): Show | a0001c0001t0004g0281 a0001c0003t0002g0042 a0001c0003t0002g0256 others(3): Show |
7 | 174 | 0.0402 | 12 | c.168 others(29): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP12A_chr13_24675408_24717472 | 24708880 | G | GAAAGAGA others(5): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 376 | 0.0027 | 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 | 24708900 | G | GGAAAGAA others(5): Show |
intron_variant | MODIFIER | HG02451.hp2 NA18969.hp1 NA19240.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0003t0001g0135 |
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 | 24708942 | A | AAAGAAAG others(5): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0136 | 1 | 372 | 0.0027 | 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 | 24708946 | A | AAAGAAAG others(5): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01168.hp1 HG01169.hp1 others(7): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(3): Show | a0001c0001t0001g0013 a0001c0001t0001g0128 a0001c0002t0001g0124 others(5): Show |
10 | 280 | 0.0357 | 12 | c.249 others(29): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |