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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATM_chr11_108218067_108374102 | 108317615 | T | TTATATAT others(5): Show |
intron_variant | MODIFIER | HG04184.hp1 NA18960.hp2 NA18999.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0062a0001c0001t0002g0069a0001c0001t0002g0109others(1): Show | 4 | 304 | 0.0132 | 12 | c.634 others(29): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 43/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ATM_chr11_108218067_108374102 | 108317650 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0168 | 1 | 304 | 0.0033 | 12 | c.634 others(29): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 43/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ATM_chr11_108218067_108374102 | 108317652 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02683.hp2 |
a0001a0018 | a0001c0001a0018c0028 | a0001c0001t0002a0018c0028t0002 | a0001c0001t0002g0057a0018c0028t0002g0067 | 2 | 304 | 0.0066 | 12 | c.634 others(29): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 43/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ATM_chr11_108218067_108374102 | 108354070 | A | AACACACA others(5): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02976.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0136a0002c0002t0003g0148 | 2 | 304 | 0.0066 | 12 | c.878 others(29): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 60/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ATM_chr11_108218067_108374102 | 108372174 | T | TATTCATT others(5): Show |
downstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0290 | 1 | 304 | 0.0033 | 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 |
a0002a0013 | a0002c0002a0013c0017 | a0002c0002t0001a0013c0017t0001 | a0002c0002t0001g0001a0002c0002t0001g0101a0013c0017t0001g0002 | 3 | 414 | 0.0073 | 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 |
a0001a0002a0003others(4): Show | a0001c0011a0002c0002a0003c0005others(4): Show | a0001c0011t0004a0002c0002t0001a0003c0005t0001others(5): Show | a0001c0011t0004g0005a0002c0002t0001g0001a0002c0002t0001g0045others(7): Show | 19 | 414 | 0.0459 | 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 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0001 | 1 | 414 | 0.0024 | 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 |
a0012a0021 | a0012c0014a0012c0036a0021c0051 | a0012c0014t0001a0012c0036t0001a0021c0051t0001 | a0012c0014t0001g0002a0012c0014t0001g0008a0012c0014t0001g0011others(5): Show | 10 | 414 | 0.0242 | 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 | 458 | 0.0022 | 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(38): Show |
a0001a0002a0003 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0019a0001c0001t0001g0094a0001c0001t0001g0143others(32): Show | 41 | 378 | 0.1085 | 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(44): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0004others(3): Show | a0001c0001t0002a0001c0001t0009a0002c0002t0002others(8): Show | a0001c0001t0002g0017a0001c0001t0002g0024a0001c0001t0002g0072others(39): Show | 47 | 378 | 0.1243 | 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 | a0001c0001t0003g0103a0001c0001t0003g0105a0001c0001t0003g0107others(27): Show | 36 | 362 | 0.0995 | 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 | a0004c0005t0001g0118a0004c0005t0001g0120 | 2 | 362 | 0.0055 | 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 | a0004c0005t0001g0194a0004c0005t0001g0195a0004c0005t0001g0245others(1): Show | 4 | 362 | 0.0111 | 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 | a0011 | a0011c0019 | a0011c0019t0001 | a0011c0019t0001g0142 | 1 | 432 | 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 |
a0001a0002a0014others(2): Show | a0001c0001a0002c0002a0014c0023others(2): Show | a0001c0001t0001a0002c0002t0001a0014c0023t0001others(2): Show | a0001c0001t0001g0038a0002c0002t0001g0029a0002c0002t0001g0030others(3): Show | 6 | 300 | 0.0200 | 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 | a0001c0001t0001g0219a0001c0001t0001g0225a0002c0002t0001g0122others(8): Show | 11 | 300 | 0.0367 | 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 | a0001c0001t0001g0219a0001c0001t0001g0276a0002c0002t0001g0019others(8): Show | 11 | 300 | 0.0367 | 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 | a0001c0001t0001g0047a0001c0001t0001g0272a0002c0002t0001g0184others(14): Show | 17 | 300 | 0.0567 | 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 | a0001c0001t0001g0245a0001c0001t0001g0261a0001c0001t0001g0263others(6): Show | 9 | 300 | 0.0300 | 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 | a0001c0019t0003g0003a0003c0003t0003g0002a0007c0016t0003g0001others(1): Show | 4 | 300 | 0.0133 | 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 | 300 | 0.0033 | 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 |
a0002a0038 | a0002c0002a0038c0050 | a0002c0002t0001a0038c0050t0001 | a0002c0002t0001g0046a0038c0050t0001g0054 | 2 | 300 | 0.0067 | 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 | 236 | 0.0042 | 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 | 236 | 0.0042 | 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 | a0001c0001t0001g0019a0001c0001t0001g0038a0001c0001t0001g0064others(73): Show | 76 | 236 | 0.3220 | 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 |
a0001a0025 | a0001c0011a0025c0038 | a0001c0011t0041a0025c0038t0022 | a0001c0011t0041g0001a0025c0038t0022g0133 | 2 | 236 | 0.0085 | 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 |
a0001a0005a0006others(3): Show | a0001c0005a0001c0006a0005c0012others(4): Show | a0001c0005t0012a0001c0006t0024a0005c0012t0017others(4): Show | a0001c0005t0012g0002a0001c0005t0012g0006a0001c0006t0024g0109others(7): Show | 10 | 236 | 0.0424 | 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 |
a0001a0009 | a0001c0002a0009c0018 | a0001c0002t0007a0009c0018t0021a0009c0018t0034 | a0001c0002t0007g0213a0001c0002t0007g0229a0009c0018t0021g0205others(1): Show | 4 | 236 | 0.0170 | 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 | a0003c0007t0013g0189a0003c0007t0015g0215 | 2 | 236 | 0.0085 | 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 |
a0001a0025 | a0001c0008a0025c0038 | a0001c0008t0045a0025c0038t0022 | a0001c0008t0045g0026a0025c0038t0022g0133 | 2 | 236 | 0.0085 | 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 | a0005 | a0005c0012 | a0005c0012t0017 | a0005c0012t0017g0196 | 1 | 236 | 0.0042 | 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 | a0003c0007t0013g0189a0003c0007t0015g0215 | 2 | 236 | 0.0085 | 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 | a0001c0001t0001g0038a0001c0001t0001g0060a0001c0001t0001g0065others(57): Show | 60 | 236 | 0.2542 | 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 | 236 | 0.0042 | 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 | a0001c0001t0003g0092a0001c0001t0003g0095a0002c0003t0006g0100 | 3 | 236 | 0.0127 | 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 | a0001c0001t0001g0017a0001c0001t0001g0019a0001c0001t0001g0060others(62): Show | 65 | 236 | 0.2754 | 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(21): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0005others(8): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(15): Show | a0001c0001t0002g0004a0001c0001t0002g0009a0001c0001t0002g0010others(21): Show | 24 | 236 | 0.1017 | 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 |
a0002a0012a0021others(1): Show | a0002c0008a0012c0013a0021c0028others(1): Show | a0002c0008t0001a0012c0013t0008a0021c0028t0008others(1): Show | a0002c0008t0001g0135a0012c0013t0008g0137a0021c0028t0008g0209others(1): Show | 4 | 332 | 0.0121 | 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 |
a0011a0012a0021others(1): Show | a0011c0041a0012c0013a0021c0028others(1): Show | a0011c0041t0008a0012c0013t0008a0021c0028t0008others(1): Show | a0011c0041t0008g0221a0012c0013t0008g0023a0012c0013t0008g0035others(6): Show | 9 | 332 | 0.0271 | 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 | a0001c0002t0039 | a0001c0002t0039g0212 | 1 | 254 | 0.0039 | 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 | 254 | 0.0039 | 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 | a0001c0001t0001g0121a0001c0005t0020g0144 | 2 | 254 | 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(32): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0022others(24): Show | a0001c0001t0001g0068a0001c0001t0001g0121a0001c0001t0001g0146others(32): Show | 35 | 254 | 0.1378 | 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 | a0001c0001t0001g0107 | 1 | 324 | 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 | a0001c0001t0001a0001c0001t0002a0001c0001t0018others(1): Show | a0001c0001t0001g0109a0001c0001t0001g0143a0001c0001t0002g0182others(4): Show | 7 | 234 | 0.0299 | 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 |
a0001a0006 | a0001c0003a0006c0006 | a0001c0003t0002a0006c0006t0002 | a0001c0003t0002g0040a0006c0006t0002g0037 | 2 | 234 | 0.0086 | 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 | a0001c0007t0001g0238 | 1 | 382 | 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 | a0001c0001t0004g0324a0001c0003t0002g0291a0001c0003t0002g0312others(4): Show | 7 | 382 | 0.0183 | 12 | c.168 others(29): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |