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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATL2_chr2_38288954_38382273 | 38360259 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01071.hp1 HG01175.hp2 others(15): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0007a0001c0003t0006 | a0001c0001t0002g0051 a0001c0001t0002g0058 a0001c0001t0002g0060 others(15): Show |
18 | 158 | 0.1139 | 8 | c.119 others(27): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38365134 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03098.hp1 HG03486.hp2 others(1): Show |
a0001a0003 | a0001c0003a0003c0005 | a0001c0003t0009a0001c0003t0012a0003c0005t0020 | a0001c0003t0009g0001 a0001c0003t0009g0002 a0001c0003t0012g0007 others(1): Show |
4 | 189 | 0.0212 | 8 | c.118 others(27): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
ATMIN_chr16_81030842_81052350 | 81046661 | G | GACACACA others(1): Show |
3_prime_UTR_variant | MODIFIER | HG01433.hp1 HG03710.hp1 NA18997.hp2 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0038a0002c0002t0024 | a0001c0003t0038g0018 a0002c0002t0024g0002 |
3 | 38 | 0.0789 | 8 | c.*17 others(19): Show |
ATMIN | ENSG00000166454.10 | transcript | ENST00000299575.5 | protein_coding | 4/4 | 1722 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ATM_chr11_108218067_108374102 | 108317615 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01981.hp1 HG02071.hp1 others(7): Show |
a0001a0009 | a0001c0001a0001c0008a0001c0027others(1): Show | a0001c0001t0002a0001c0008t0002a0001c0027t0002others(1): Show | a0001c0001t0002g0018 a0001c0001t0002g0069 a0001c0001t0002g0093 others(7): Show |
10 | 98 | 0.1020 | 8 | c.634 others(25): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 43/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ATM_chr11_108218067_108374102 | 108332433 | A | AAATTAAT others(1): Show |
intron_variant | MODIFIER | HG02602.hp1 HG03688.hp1 HG03942.hp2 others(7): Show |
a0004a0005 | a0004c0004a0005c0006 | a0004c0004t0005a0005c0006t0005a0005c0006t0030 | a0004c0004t0005g0005 a0005c0006t0005g0166 a0005c0006t0005g0167 others(7): Show |
10 | 300 | 0.0333 | 8 | c.778 others(25): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 52/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ATM_chr11_108218067_108374102 | 108354070 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02109.hp2 HG02145.hp1 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0086 a0002c0002t0003g0087 a0002c0002t0003g0138 others(7): Show |
10 | 149 | 0.0671 | 8 | c.878 others(25): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 60/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ATN1_chr12_6922959_6947321 | 6925117 | C | CGTGTGTG others(1): Show |
upstream_gene_variant | MODIFIER | HG02027.hp2 HG02809.hp1 HG02896.hp2 others(3): Show |
a0001a0013 | a0001c0001a0013c0023 | a0001c0001t0001a0013c0023t0001 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0029 others(1): Show |
6 | 188 | 0.0319 | 8 | c.-34 others(19): Show |
ATN1 | ENSG00000111676.15 | transcript | ENST00000396684.3 | protein_coding | 2841 | chr12 | TogoVar | |||||||
ATN1_chr12_6922959_6947321 | 6925141 | T | TGTGTGTG others(1): Show |
upstream_gene_variant | MODIFIER | HG02559.hp2 HG02630.hp2 HG03225.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0044 a0001c0001t0001g0108 a0002c0003t0001g0092 |
3 | 357 | 0.0084 | 8 | c.-34 others(19): Show |
ATN1 | ENSG00000111676.15 | transcript | ENST00000396684.3 | protein_coding | 2817 | chr12 | TogoVar | |||||||
ATOH8_chr2_85748991_85796383 | 85763821 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(40): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0016others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(18): Show | a0001c0001t0001g0138 a0001c0001t0001g0157 a0001c0001t0001g0183 others(35): Show |
43 | 141 | 0.3050 | 8 | c.769 others(23): 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(1): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 HG01891.hp1 HG01891.hp2 others(21): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0004others(6): Show | a0001c0001t0011a0001c0001t0019a0002c0002t0016others(13): Show | a0001c0001t0011g0194 a0001c0001t0019g0196 a0002c0002t0016g0120 others(17): Show |
24 | 321 | 0.0748 | 8 | c.*64 others(19): Show |
ATOH8 | ENSG00000168874.13 | transcript | ENST00000306279.4 | protein_coding | 2005 | chr2 | TogoVar | |||||||
ATOSA_chr15_52576321_52684388 | 52583390 | G | GTCATTCA others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00621.hp1 others(20): Show |
a0001a0005 | a0001c0001a0001c0003a0005c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0010 a0001c0001t0002g0032 a0001c0001t0002g0037 others(19): Show |
23 | 129 | 0.1783 | 8 | c.307 others(27): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 12/12 | chr15 | TogoVar | |||||||
ATOSA_chr15_52576321_52684388 | 52672172 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01069.hp1 HG01074.hp1 others(22): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0007others(1): Show | a0001c0001t0002a0002c0002t0001a0002c0007t0001others(1): Show | a0001c0001t0002g0098 a0002c0002t0001g0264 a0002c0002t0001g0270 others(22): Show |
25 | 161 | 0.1553 | 8 | c.16+ others(23): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 2/12 | chr15 | TogoVar | |||||||
ATOX1_chr5_151737822_151763631 | 151738987 | A | AGTGTGTG others(1): Show |
downstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01099.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0034 a0001c0001t0001g0036 |
6 | 152 | 0.0395 | 8 | c.*40 others(19): Show |
ATOX1 | ENSG00000177556.12 | transcript | ENST00000313115.11 | protein_coding | 3834 | chr5 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25732558 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00609.hp1 HG01074.hp1 others(20): Show |
a0001a0002a0003others(13): Show | a0001c0001a0002c0002a0002c0071others(15): Show | a0001c0001t0001a0002c0002t0001a0002c0071t0001others(15): Show | a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0163 others(20): Show |
23 | 38 | 0.6053 | 8 | c.740 others(25): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 3/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25779845 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01074.hp1 others(8): Show |
a0001a0002a0003others(4): Show | a0001c0047a0002c0002a0003c0003others(4): Show | a0001c0047t0001a0002c0002t0001a0003c0003t0001others(4): Show | a0001c0047t0001g0201 a0002c0002t0001g0029 a0002c0002t0001g0030 others(8): Show |
11 | 39 | 0.2821 | 8 | c.654 others(25): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25789565 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01109.hp2 HG01261.hp2 others(20): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0047a0002c0002others(14): Show | a0001c0001t0001a0001c0047t0001a0002c0002t0001others(14): Show | a0001c0001t0001g0082 a0001c0001t0001g0230 a0001c0047t0001g0201 others(20): Show |
23 | 143 | 0.1608 | 8 | c.450 others(25): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 1/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25792873 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02258.hp1 HG02486.hp1 others(3): Show |
a0001a0002a0003others(3): Show | a0001c0047a0002c0002a0003c0078others(3): Show | a0001c0047t0001a0002c0002t0001a0003c0078t0001others(3): Show | a0001c0047t0001g0201 a0002c0002t0001g0203 a0003c0078t0001g0206 others(3): Show |
6 | 18 | 0.3333 | 8 | c.450 others(27): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 1/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25845322 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02451.hp2 HG02717.hp1 others(3): Show |
a0007a0008a0017others(3): Show | a0007c0016a0008c0006a0017c0023others(3): Show | a0007c0016t0001a0008c0006t0001a0017c0023t0001others(3): Show | a0007c0016t0001g0250 a0008c0006t0001g0045 a0017c0023t0001g0043 others(3): Show |
6 | 201 | 0.0299 | 8 | c.449 others(27): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 1/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25855541 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00642.hp1 others(68): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0014a0001c0019others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0014t0001others(32): Show | a0001c0001t0001g0070 a0001c0001t0001g0082 a0001c0001t0001g0084 others(68): Show |
71 | 84 | 0.8452 | 8 | c.449 others(25): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 1/20 | chr15 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160637029 | C | CATCCATG others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00738.hp2 HG01069.hp1 others(6): Show |
a0001a0014a0016 | a0001c0001a0001c0006a0014c0021others(1): Show | a0001c0001t0003a0001c0001t0008a0001c0001t0023others(4): Show | a0001c0001t0003g0096 a0001c0001t0003g0191 a0001c0001t0008g0168 others(6): Show |
9 | 234 | 0.0385 | 8 | c.100 others(25): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 10/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160637129 | T | TATCCATC others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01243.hp1 HG02155.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(2): Show | a0001c0001t0001g0066 a0001c0001t0001g0072 a0001c0001t0001g0137 others(12): Show |
15 | 88 | 0.1705 | 8 | c.100 others(25): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 10/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160652879 | A | ATATACAT others(1): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01109.hp1 HG01243.hp1 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0009a0001c0001t0023others(1): Show | a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0009g0031 others(3): Show |
6 | 234 | 0.0256 | 8 | c.676 others(25): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160653648 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 |
a0005 | a0005c0017 | a0005c0017t0026a0005c0017t0040 | a0005c0017t0026g0003 a0005c0017t0040g0034 |
2 | 233 | 0.0086 | 8 | c.676 others(25): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160653813 | A | AAATATAT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(76): Show |
a0001a0002a0010others(7): Show | a0001c0001a0001c0002a0001c0005others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0118 others(76): Show |
79 | 230 | 0.3435 | 8 | c.676 others(25): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160653838 | A | AAATATAT others(1): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02145.hp2 HG02717.hp2 others(4): Show |
a0001a0014 | a0001c0001a0001c0008a0001c0029others(1): Show | a0001c0001t0002a0001c0008t0019a0001c0008t0037others(2): Show | a0001c0001t0002g0006 a0001c0001t0002g0171 a0001c0008t0019g0029 others(4): Show |
7 | 158 | 0.0443 | 8 | c.676 others(25): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160653840 | T | TGTATATA others(1): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02145.hp2 HG02717.hp2 others(2): Show |
a0001a0014 | a0001c0008a0001c0029a0014c0021 | a0001c0008t0019a0001c0008t0037a0001c0029t0047others(1): Show | a0001c0008t0019g0029 a0001c0008t0019g0087 a0001c0008t0037g0023 others(2): Show |
5 | 234 | 0.0214 | 8 | c.676 others(25): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160693403 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01516.hp2 HG01993.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(3): Show | a0001c0001t0001g0060 a0001c0001t0001g0067 a0001c0001t0001g0072 others(13): Show |
16 | 53 | 0.3019 | 8 | c.-20 others(27): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 3/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160715688 | C | CTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(125): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0001c0005others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | a0001c0001t0001g0020 a0001c0001t0001g0051 a0001c0001t0001g0064 others(125): Show |
128 | 139 | 0.9209 | 8 | c.-20 others(27): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 3/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160766337 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG03834.hp1 NA19060.hp1 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0011a0002c0003t0006 | a0001c0002t0011g0084 a0002c0003t0006g0098 |
2 | 21 | 0.0952 | 8 | c.-33 others(29): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 2/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160782438 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02083.hp2 HG02683.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0001c0001t0002a0003c0007t0015 | a0001c0001t0001g0140 a0001c0001t0001g0159 a0001c0001t0002g0079 others(2): Show |
5 | 47 | 0.1064 | 8 | c.-33 others(27): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 2/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160783562 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | NA18961.hp1 NA19084.hp2 |
a0002 | a0002c0004 | a0002c0004t0008 | a0002c0004t0008g0086 a0002c0004t0008g0095 |
2 | 71 | 0.0282 | 8 | c.-33 others(27): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 2/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160812020 | C | CACAGAGA others(1): Show |
intron_variant | MODIFIER | HG02080.hp1 NA18942.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0079 a0001c0001t0003g0093 |
2 | 107 | 0.0187 | 8 | c.-57 others(29): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 1/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160812020 | C | CAGAGACA others(1): Show |
intron_variant | MODIFIER | HG02074.hp1 HG03927.hp2 NA18961.hp2 |
a0001a0021 | a0001c0001a0021c0035 | a0001c0001t0001a0001c0001t0002a0021c0035t0004 | a0001c0001t0001g0066 a0001c0001t0002g0069 a0021c0035t0004g0062 |
3 | 108 | 0.0278 | 8 | c.-57 others(29): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 1/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160822989 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG01993.hp1 NA18941.hp2 NA18942.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0003t0005 | a0001c0001t0001g0143 a0001c0001t0001g0157 a0001c0001t0002g0079 others(1): Show |
4 | 134 | 0.0299 | 8 | c.-57 others(29): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 1/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160830991 | A | ACACACAC others(1): Show |
intron_variant | MODIFIER | HG02922.hp2 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 a0001c0001t0001g0170 |
2 | 39 | 0.0513 | 8 | c.-57 others(29): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 1/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160849618 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01243.hp2 HG02257.hp1 others(4): Show |
a0001a0024 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(3): Show | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0002g0079 others(4): Show |
7 | 42 | 0.1667 | 8 | c.-57 others(27): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 1/25 | chr5 | TogoVar | |||||||
ATP10D_chr4_47480275_47598486 | 47572644 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG00639.hp1 others(31): Show |
a0001a0002a0010others(9): Show | a0001c0001a0002c0002a0010c0012others(9): Show | a0001c0001t0003a0001c0001t0004a0002c0002t0001others(11): Show | a0001c0001t0003g0240 a0001c0001t0004g0078 a0002c0002t0001g0002 others(28): Show |
34 | 53 | 0.6415 | 8 | c.324 others(25): Show |
ATP10D | ENSG00000145246.14 | transcript | ENST00000273859.8 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112689409 | G | GGGGACAG others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00544.hp2 others(136): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0004others(33): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0021others(79): Show | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0029 others(136): Show |
139 | 252 | 0.5516 | 8 | c.-10 others(19): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 628 | chr13 | TogoVar | |||||||
ATP11A_chr13_112685038_112892168 | 112710964 | G | GCCACCCA others(1): Show |
intron_variant | MODIFIER | HG02895.hp1 HG03540.hp2 NA19002.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0023a0001c0006t0001 | a0001c0001t0023g0157 a0001c0001t0023g0158 a0001c0006t0001g0184 |
3 | 47 | 0.0638 | 8 | c.39+ others(25): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112803979 | T | TCCCCTCT others(1): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01261.hp1 HG02129.hp2 others(1): Show |
a0001a0003a0008 | a0001c0002a0003c0012a0008c0023 | a0001c0002t0001a0001c0002t0013a0003c0012t0005others(1): Show | a0001c0002t0001g0032 a0001c0002t0013g0112 a0003c0012t0005g0188 others(1): Show |
4 | 245 | 0.0163 | 8 | c.163 others(23): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | chr13 | TogoVar | |||||||
ATP11A_chr13_112685038_112892168 | 112804113 | T | TCCTCCTT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00544.hp1 others(23): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0021a0001c0001t0022others(16): Show | a0001c0001t0001g0068 a0001c0001t0001g0105 a0001c0001t0001g0181 others(23): Show |
26 | 162 | 0.1605 | 8 | c.163 others(23): 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(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG00738.hp1 others(18): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0025a0001c0002t0002others(12): Show | a0001c0001t0001g0024 a0001c0001t0001g0232 a0001c0001t0001g0244 others(18): Show |
21 | 67 | 0.3134 | 8 | c.441 others(23): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11B_chr3_182788504_182926629 | 182922885 | T | TTTTCTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 HG01255.hp2 HG02559.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0254 a0001c0001t0005g0255 a0001c0001t0005g0256 others(5): Show |
8 | 320 | 0.0250 | 8 | c.*47 others(19): Show |
ATP11B | ENSG00000058063.16 | transcript | ENST00000323116.10 | protein_coding | 1257 | chr3 | TogoVar | |||||||
ATP11C_chrX_139721348_139938053 | 139769281 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01167.hp1 HG01169.hp2 others(12): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0064 a0001c0001t0001g0105 a0001c0001t0001g0127 others(12): Show |
15 | 46 | 0.3261 | 8 | c.221 others(25): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 19/29 | chrX | TogoVar | |||||||
ATP11C_chrX_139721348_139938053 | 139790464 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG03453.hp1 HG03486.hp2 |
a0003 | a0003c0004 | a0003c0004t0008 | a0003c0004t0008g0005 a0003c0004t0008g0006 |
2 | 130 | 0.0154 | 8 | c.120 others(25): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 12/29 | chrX | TogoVar | |||||||
ATP11C_chrX_139721348_139938053 | 139919444 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02895.hp1 HG03831.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0009a0001c0001t0011others(1): Show | a0001c0001t0007g0228 a0001c0001t0009g0216 a0001c0001t0011g0229 others(1): Show |
4 | 32 | 0.1250 | 8 | c.27+ others(25): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | |||||||
ATP11C_chrX_139721348_139938053 | 139922223 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01515.hp1 HG02970.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0003t0002others(1): Show | a0001c0001t0001g0084 a0001c0001t0001g0106 a0001c0001t0001g0110 others(4): Show |
7 | 17 | 0.4118 | 8 | c.27+ others(23): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | |||||||
ATP12A_chr13_24675408_24717472 | 24697714 | G | GTGATAAT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(233): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(19): Show | a0001c0001t0001a0001c0001t0008a0001c0002t0001others(35): Show | a0001c0001t0001g0034 a0001c0001t0001g0058 a0001c0001t0001g0079 others(168): Show |
236 | 380 | 0.6211 | 8 | c.151 others(25): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 11/22 | chr13 | TogoVar | |||||||
ATP12A_chr13_24675408_24717472 | 24708880 | G | GAAAGAGA others(1): Show |
intron_variant | MODIFIER | NA18940.hp1 NA18961.hp2 NA18962.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0063 a0001c0001t0001g0067 |
4 | 379 | 0.0106 | 8 | c.249 others(25): 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(1): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02602.hp2 HG02647.hp1 others(10): Show |
a0001a0004 | a0001c0002a0001c0003a0001c0005others(1): Show | a0001c0002t0001a0001c0002t0011a0001c0003t0004others(3): Show | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0004 others(9): Show |
13 | 217 | 0.0599 | 8 | c.249 others(25): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |