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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATIC_chr2_215307059_215354764 | 215307750 | G | GAAGAA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(348): Show |
a0001a0002a0005others(6): Show | a0001c0001a0001c0005a0001c0007others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(211): Show |
351 | 380 | 0.9237 | 5 | c.-43 others(16): Show |
ATIC | ENSG00000138363.15 | transcript | ENST00000236959.14 | protein_coding | 4308 | chr2 | TogoVar | |||||||
ATIC_chr2_215307059_215354764 | 215311082 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG01361.hp2 HG01891.hp1 HG01975.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0007t0001others(4): Show | a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0004g0004 others(9): Show |
21 | 114 | 0.1842 | 5 | c.-10 others(16): Show |
ATIC | ENSG00000138363.15 | transcript | ENST00000236959.14 | protein_coding | 976 | chr2 | TogoVar | |||||||
ATL1_chr14_50555145_50638045 | 50597220 | C | CAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00423.hp1 others(129): Show |
a0001 | a0001c0001a0001c0010a0001c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0013 others(121): Show |
132 | 201 | 0.6567 | 5 | c.630 others(22): Show |
ATL1 | ENSG00000198513.14 | transcript | ENST00000358385.12 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ATL1_chr14_50555145_50638045 | 50629892 | G | GTTCTT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(248): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0010 others(229): Show |
251 | 318 | 0.7893 | 5 | c.155 others(22): Show |
ATL1 | ENSG00000198513.14 | transcript | ENST00000358385.12 | protein_coding | 12/13 | chr14 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38312723 | A | AAAAAG | intron_variant | MODIFIER | HG01099.hp1 HG01109.hp1 HG01891.hp2 others(26): Show |
a0001a0003a0004 | a0001c0003a0003c0004a0003c0005others(2): Show | a0001c0003t0003a0001c0003t0010a0001c0003t0017others(9): Show | a0001c0003t0003g0008 a0001c0003t0003g0009 a0001c0003t0003g0011 others(26): Show |
29 | 221 | 0.1312 | 5 | c.804 others(20): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 7/12 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38352133 | C | CAAAAA | intron_variant | MODIFIER | HG02129.hp2 HG02280.hp1 HG02280.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0007a0002c0002t0001 | a0001c0001t0002g0054 a0001c0001t0002g0077 a0001c0001t0002g0104 others(4): Show |
7 | 66 | 0.1061 | 5 | c.119 others(22): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38364263 | A | AAAAAT | intron_variant | MODIFIER | HG00738.hp2 HG01243.hp1 HG01884.hp1 others(18): Show |
a0003 | a0003c0004a0003c0005 | a0003c0004t0003a0003c0004t0011a0003c0004t0016others(2): Show | a0003c0004t0003g0029 a0003c0004t0003g0033 a0003c0004t0003g0034 others(18): Show |
21 | 234 | 0.0897 | 5 | c.118 others(24): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38370150 | C | CAAAAA | intron_variant | MODIFIER | HG02572.hp1 HG02965.hp1 HG03209.hp2 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0010a0001c0003t0019 | a0001c0003t0003g0011 a0001c0003t0003g0015 a0001c0003t0003g0017 others(3): Show |
6 | 171 | 0.0351 | 5 | c.118 others(22): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
ATL3_chr11_63619087_63676376 | 63632820 | T | TCAAAA | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp1 HG02683.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0018 | a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0021 others(5): Show |
8 | 240 | 0.0333 | 5 | c.110 others(22): Show |
ATL3 | ENSG00000184743.13 | transcript | ENST00000398868.8 | protein_coding | 11/12 | chr11 | TogoVar | |||||||
ATL3_chr11_63619087_63676376 | 63644367 | A | AGATAC | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp1 HG01109.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0007a0001c0001t0014others(3): Show | a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0021 others(17): Show |
22 | 240 | 0.0917 | 5 | c.619 others(20): Show |
ATL3 | ENSG00000184743.13 | transcript | ENST00000398868.8 | protein_coding | 6/12 | chr11 | TogoVar | |||||||
ATM_chr11_108218067_108374102 | 108293892 | A | ATATAT | intron_variant | MODIFIER | HG01255.hp1 HG02683.hp1 NA19004.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0014 | a0001c0001t0001g0227 a0001c0001t0010g0219 a0001c0001t0014g0274 |
3 | 225 | 0.0133 | 5 | c.477 others(22): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 31/62 | chr11 | TogoVar | |||||||
ATOSA_chr15_52576321_52684388 | 52597150 | A | ATTCTG | intron_variant | MODIFIER | HG01433.hp1 HG03579.hp2 HG03710.hp1 |
a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0081 a0003c0004t0002g0093 a0003c0004t0002g0097 |
3 | 359 | 0.0084 | 5 | c.264 others(24): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 9/12 | chr15 | TogoVar | |||||||
ATOSA_chr15_52576321_52684388 | 52640571 | C | CAAAAA | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00597.hp2 others(48): Show |
a0001a0013 | a0001c0001a0001c0003a0001c0015others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(3): Show | a0001c0001t0001g0177 a0001c0001t0001g0200 a0001c0001t0001g0204 others(45): Show |
51 | 89 | 0.5730 | 5 | c.17- others(22): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 2/12 | chr15 | TogoVar | |||||||
ATOSA_chr15_52576321_52684388 | 52654143 | G | GATATC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(312): Show |
a0001a0002a0005others(7): Show | a0001c0001a0001c0003a0001c0015others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 others(293): Show |
315 | 360 | 0.8750 | 5 | c.16+ others(22): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 2/12 | chr15 | TogoVar | |||||||
ATOSA_chr15_52576321_52684388 | 52677688 | C | CTAAAA | intron_variant | MODIFIER | HG00673.hp1 HG02074.hp2 HG02083.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 others(8): Show |
11 | 360 | 0.0306 | 5 | c.16+ others(18): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 2/12 | chr15 | TogoVar | |||||||
ATOX1_chr5_151737822_151763631 | 151759859 | T | TAGCTA | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02280.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 a0001c0001t0001g0075 |
3 | 376 | 0.0080 | 5 | c.-13 others(16): Show |
ATOX1 | ENSG00000177556.12 | transcript | ENST00000313115.11 | protein_coding | 1229 | chr5 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25712536 | A | AGAGAT | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 NA18981.hp1 |
a0002a0003 | a0002c0022a0003c0003 | a0002c0022t0001a0003c0003t0001 | a0002c0022t0001g0066 a0002c0022t0001g0067 a0003c0003t0001g0110 |
3 | 298 | 0.0101 | 5 | c.234 others(24): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 10/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25792873 | C | CTTTTT | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00544.hp1 others(104): Show |
a0001a0002a0003others(30): Show | a0001c0001a0001c0014a0001c0019others(41): Show | a0001c0001t0001a0001c0001t0002a0001c0014t0001others(46): Show | a0001c0001t0001g0009 a0001c0001t0001g0047 a0001c0001t0001g0061 others(104): Show |
107 | 119 | 0.8992 | 5 | c.450 others(24): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 1/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25841584 | C | CAAAAA | intron_variant | MODIFIER | HG02109.hp2 HG02257.hp2 HG02630.hp1 others(3): Show |
a0007a0008a0009others(3): Show | a0007c0070a0008c0006a0009c0045others(3): Show | a0007c0070t0001a0008c0006t0004a0009c0045t0001others(3): Show | a0007c0070t0001g0218 a0008c0006t0004g0004 a0009c0045t0001g0049 others(3): Show |
6 | 22 | 0.2727 | 5 | c.449 others(24): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 1/20 | chr15 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160653621 | A | ACATAT | intron_variant | MODIFIER | HG02976.hp1 HG02976.hp2 |
a0001a0018 | a0001c0011a0018c0019 | a0001c0011t0025a0018c0019t0048 | a0001c0011t0025g0028 a0018c0019t0048g0113 |
2 | 233 | 0.0086 | 5 | c.676 others(22): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160653632 | A | ATATAT | intron_variant | MODIFIER | HG01884.hp2 HG02717.hp2 NA18906.hp2 others(1): Show |
a0001 | a0001c0008a0001c0029 | a0001c0008t0019a0001c0008t0037a0001c0029t0047 | a0001c0008t0019g0029 a0001c0008t0019g0087 a0001c0008t0037g0023 others(1): Show |
4 | 156 | 0.0256 | 5 | c.676 others(22): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160653759 | A | ATGTTG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(73): Show |
a0001a0002a0010others(6): Show | a0001c0001a0001c0002a0001c0005others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0118 others(73): Show |
76 | 234 | 0.3248 | 5 | c.676 others(22): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160693403 | A | ACACAC | intron_variant | MODIFIER | HG00738.hp2 HG01243.hp2 HG02080.hp1 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0003a0001c0008t0045 | a0001c0001t0003g0093 a0001c0001t0003g0191 a0001c0008t0045g0026 |
3 | 40 | 0.0750 | 5 | c.-20 others(24): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 3/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160704914 | C | CTTTTT | intron_variant | MODIFIER | HG00323.hp2 HG00673.hp1 HG00673.hp2 others(7): Show |
a0001a0002a0011others(1): Show | a0001c0001a0001c0002a0002c0010others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0158 a0001c0001t0003g0043 a0001c0001t0003g0099 others(7): Show |
10 | 42 | 0.2381 | 5 | c.-20 others(26): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 3/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160767641 | C | CCCCCG | intron_variant | MODIFIER | HG00438.hp1 HG00673.hp1 HG00673.hp2 others(24): Show |
a0001a0002a0011others(2): Show | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0066 others(24): Show |
27 | 187 | 0.1444 | 5 | c.-33 others(26): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 2/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160770418 | T | TTTTCA | intron_variant | MODIFIER | HG00438.hp1 HG00621.hp1 HG00621.hp2 others(72): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0005others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0066 others(72): Show |
75 | 234 | 0.3205 | 5 | c.-33 others(26): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 2/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160787124 | A | ACACAC | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(31): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0020 a0001c0001t0001g0051 a0001c0001t0001g0120 others(31): Show |
34 | 233 | 0.1459 | 5 | c.-57 others(24): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 1/25 | chr5 | TogoVar | |||||||
ATP10D_chr4_47480275_47598486 | 47503915 | A | AAAAAT | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00738.hp1 others(22): Show |
a0001a0002a0013others(2): Show | a0001c0003a0002c0002a0002c0008others(3): Show | a0001c0003t0001a0002c0002t0001a0002c0002t0002others(5): Show | a0001c0003t0001g0116 a0001c0003t0001g0215 a0001c0003t0001g0289 others(19): Show |
25 | 330 | 0.0758 | 5 | c.-37 others(22): Show |
ATP10D | ENSG00000145246.14 | transcript | ENST00000273859.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ATP10D_chr4_47480275_47598486 | 47523805 | G | GTATTA | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp2 HG00735.hp2 others(14): Show |
a0010a0025a0029others(6): Show | a0010c0012a0025c0026a0029c0051others(6): Show | a0010c0012t0005a0010c0012t0006a0010c0012t0009others(8): Show | a0010c0012t0005g0067 a0010c0012t0006g0008 a0010c0012t0006g0065 others(13): Show |
17 | 330 | 0.0515 | 5 | c.690 others(20): Show |
ATP10D | ENSG00000145246.14 | transcript | ENST00000273859.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112691481 | A | AAGGGT | intron_variant | MODIFIER | HG01123.hp2 HG01891.hp2 HG01934.hp2 others(9): Show |
a0001a0002a0004 | a0001c0002a0001c0004a0001c0014others(6): Show | a0001c0002t0015a0001c0004t0006a0001c0004t0030others(8): Show | a0001c0002t0015g0054 a0001c0004t0006g0058 a0001c0004t0006g0061 others(9): Show |
12 | 208 | 0.0577 | 5 | c.39+ others(20): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | chr13 | TogoVar | |||||||
ATP11A_chr13_112685038_112892168 | 112691483 | G | GTGTGT | intron_variant | MODIFIER | HG01517.hp1 HG01517.hp2 HG01952.hp1 others(2): Show |
a0001a0003 | a0001c0001a0001c0004a0001c0005others(2): Show | a0001c0001t0001a0001c0004t0029a0001c0005t0020others(2): Show | a0001c0001t0001g0244 a0001c0004t0029g0246 a0001c0005t0020g0247 others(2): Show |
5 | 110 | 0.0455 | 5 | c.39+ others(20): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | chr13 | TogoVar | |||||||
ATP11A_chr13_112685038_112892168 | 112709728 | T | TGATTG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(210): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0004others(33): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(100): Show | a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 others(210): Show |
213 | 252 | 0.8452 | 5 | c.39+ others(22): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | chr13 | TogoVar | |||||||
ATP11A_chr13_112685038_112892168 | 112767649 | T | TTTCTC | intron_variant | MODIFIER | HG00621.hp2 HG00733.hp1 HG01109.hp1 others(35): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0062a0001c0002t0001others(27): Show | a0001c0001t0001g0065 a0001c0001t0001g0219 a0001c0001t0062g0138 others(35): Show |
38 | 251 | 0.1514 | 5 | c.40- others(22): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112781784 | C | CAAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(60): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0004others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(39): Show | a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0024 others(60): Show |
63 | 156 | 0.4038 | 5 | c.40- others(20): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112803964 | C | CCTTCA | intron_variant | MODIFIER | HG01109.hp1 HG01261.hp1 HG02129.hp2 others(2): Show |
a0001a0003a0008 | a0001c0002a0001c0006a0003c0012others(1): Show | a0001c0002t0001a0001c0002t0013a0001c0006t0001others(2): Show | a0001c0002t0001g0032 a0001c0002t0013g0112 a0001c0006t0001g0101 others(2): Show |
5 | 251 | 0.0199 | 5 | c.163 others(20): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112804207 | T | TTTTCC | intron_variant | MODIFIER | HG01243.hp1 HG02083.hp2 HG03225.hp2 |
a0001 | a0001c0002a0001c0014 | a0001c0002t0049a0001c0002t0061a0001c0014t0003 | a0001c0002t0049g0113 a0001c0002t0061g0201 a0001c0014t0003g0178 |
3 | 244 | 0.0123 | 5 | c.163 others(20): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11B_chr3_182788504_182926629 | 182793450 | C | CGGGCG | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp2 others(110): Show |
a0001a0005a0008 | a0001c0001a0005c0006a0008c0007 | a0001c0001t0001a0001c0001t0006a0001c0001t0012others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(105): Show |
113 | 290 | 0.3897 | 5 | c.-31 others(14): Show |
ATP11B | ENSG00000058063.16 | transcript | ENST00000323116.10 | protein_coding | 53 | chr3 | TogoVar | |||||||
ATP11B_chr3_182788504_182926629 | 182911271 | G | GCCCCC | intron_variant | MODIFIER | HG00597.hp1 HG01069.hp1 HG01255.hp1 others(22): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0009 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0002g0164 a0001c0001t0002g0175 a0001c0001t0003g0177 others(22): Show |
25 | 134 | 0.1866 | 5 | c.331 others(24): Show |
ATP11B | ENSG00000058063.16 | transcript | ENST00000323116.10 | protein_coding | 28/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP11C_chrX_139721348_139938053 | 139912749 | T | TTTTTA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(214): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 others(214): Show |
217 | 232 | 0.9353 | 5 | c.27+ others(22): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | |||||||
ATP12A_chr13_24675408_24717472 | 24708961 | G | GAAAGA | intron_variant | MODIFIER | NA18612.hp2 NA18986.hp2 NA19088.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0005a0001c0003t0005 | a0001c0002t0005g0112 a0001c0003t0005g0047 a0001c0003t0005g0242 |
3 | 373 | 0.0080 | 5 | c.249 others(22): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP13A1_chr19_19640198_19668676 | 19648807 | C | CAAAAA | intron_variant | MODIFIER | HG00621.hp1 HG01884.hp2 HG02004.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0002t0001a0001c0006t0001 | a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0068 others(4): Show |
7 | 253 | 0.0277 | 5 | c.263 others(22): Show |
ATP13A1 | ENSG00000105726.17 | transcript | ENST00000357324.11 | protein_coding | 19/25 | chr19 | TogoVar | |||||||
ATP13A1_chr19_19640198_19668676 | 19666607 | G | GTTTTT | upstream_gene_variant | MODIFIER | HG00738.hp1 HG01070.hp2 HG01496.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(9): Show |
18 | 79 | 0.2278 | 5 | c.-29 others(16): Show |
ATP13A1 | ENSG00000105726.17 | transcript | ENST00000357324.11 | protein_coding | 2932 | chr19 | TogoVar | |||||||
ATP13A2_chr1_16980958_17016928 | 16997414 | C | CGGGGG | intron_variant | MODIFIER | HG00642.hp1 HG02040.hp2 HG02148.hp1 others(17): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(2): Show | a0001c0001t0001a0001c0004t0001a0001c0005t0001others(3): Show | a0001c0001t0001g0012 a0001c0001t0001g0040 a0001c0001t0001g0158 others(13): Show |
20 | 200 | 0.1000 | 5 | c.104 others(22): Show |
ATP13A2 | ENSG00000159363.19 | transcript | ENST00000326735.13 | protein_coding | 11/28 | chr1 | TogoVar | |||||||
ATP13A2_chr1_16980958_17016928 | 17015989 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00733.hp2 others(48): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(10): Show | a0001c0001t0001g0036 a0001c0001t0001g0180 a0001c0002t0001g0008 others(41): Show |
51 | 72 | 0.7083 | 5 | c.-42 others(16): Show |
ATP13A2 | ENSG00000159363.19 | transcript | ENST00000326735.13 | protein_coding | 4062 | chr1 | TogoVar | |||||||
ATP13A3_chr3_194397677_194492002 | 194399635 | T | TGTTTG | downstream_gene_variant | MODIFIER | HG03195.hp2 HG03471.hp2 NA18522.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0012 a0001c0001t0008g0013 a0001c0001t0008g0015 others(1): Show |
4 | 296 | 0.0135 | 5 | c.*62 others(16): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 3041 | chr3 | TogoVar | |||||||
ATP13A3_chr3_194397677_194492002 | 194410296 | C | CAAAAA | intron_variant | MODIFIER | HG00597.hp1 HG00621.hp2 HG00673.hp1 others(31): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0002g0031 a0001c0001t0002g0088 a0001c0001t0002g0103 others(31): Show |
34 | 169 | 0.2012 | 5 | c.357 others(24): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 33/33 | chr3 | TogoVar | |||||||
ATP13A3_chr3_194397677_194492002 | 194421159 | A | ATAAAC | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02280.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0183 a0001c0001t0007g0184 a0001c0001t0007g0185 others(5): Show |
8 | 204 | 0.0392 | 5 | c.331 others(24): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 30/33 | chr3 | TogoVar | |||||||
ATP13A3_chr3_194397677_194492002 | 194476766 | G | GTTTTT | intron_variant | MODIFIER | HG00597.hp2 HG02074.hp2 HG02083.hp1 others(32): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0158 a0001c0001t0002g0160 a0001c0001t0004g0173 others(32): Show |
35 | 275 | 0.1273 | 5 | c.-47 others(22): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 2/33 | chr3 | TogoVar | |||||||
ATP13A3_chr3_194397677_194492002 | 194476770 | T | TTTTTG | intron_variant | MODIFIER | HG01884.hp1 HG01934.hp1 HG01975.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018a0001c0001t0028 | a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0039 others(9): Show |
12 | 302 | 0.0397 | 5 | c.-47 others(22): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 2/33 | chr3 | TogoVar | |||||||
ATP13A3_chr3_194397677_194492002 | 194476780 | T | TTTTTC | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02280.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0183 a0001c0001t0007g0184 a0001c0001t0007g0185 others(5): Show |
8 | 302 | 0.0265 | 5 | c.-47 others(22): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 2/33 | chr3 | TogoVar |