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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP2C1_chr3_130889084_131008150 | 131001104 | G | GAAA | intron_variant | MODIFIER | HG01169.hp1 HG01346.hp1 HG01891.hp1 others(9): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(2): Show | a0001c0001t0001g0091 a0001c0001t0001g0114 a0001c0001t0001g0121 others(9): Show |
12 | 131 | 0.0916 | 3 | c.263 others(18): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP2C2_chr16_84363538_84469187 | 84364956 | C | CAAA | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01081.hp2 HG01243.hp2 others(10): Show |
a0001a0002a0006others(1): Show | a0001c0002a0001c0003a0001c0005others(6): Show | a0001c0002t0001a0001c0002t0003a0001c0003t0001others(7): Show | a0001c0002t0001g0054 a0001c0002t0003g0062 a0001c0003t0001g0055 others(10): Show |
13 | 120 | 0.1083 | 3 | c.-36 others(14): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 3581 | chr16 | TogoVar | |||||||
ATP2C2_chr16_84363538_84469187 | 84364977 | A | AAAG | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00621.hp1 others(61): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0410 a0001c0001t0001g0419 a0001c0001t0002g0008 others(61): Show |
64 | 408 | 0.1569 | 3 | c.-36 others(14): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 3560 | chr16 | TogoVar | |||||||
ATP2C2_chr16_84363538_84469187 | 84373501 | A | AAAC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00621.hp1 others(133): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0003others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | a0001c0001t0001g0410 a0001c0001t0001g0419 a0001c0001t0002g0008 others(133): Show |
136 | 430 | 0.3163 | 3 | c.99+ others(18): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ATP2C2_chr16_84363538_84469187 | 84387926 | A | ATTT | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02258.hp1 others(3): Show |
a0001a0002a0008 | a0001c0002a0001c0003a0002c0008others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(2): Show | a0001c0002t0001g0265 a0001c0002t0001g0267 a0001c0002t0002g0264 others(3): Show |
6 | 289 | 0.0208 | 3 | c.100 others(22): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ATP2C2_chr16_84363538_84469187 | 84391113 | C | CAAA | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00544.hp2 others(75): Show |
a0001a0002a0005others(5): Show | a0001c0001a0001c0002a0001c0003others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0329 a0001c0001t0002g0187 a0001c0001t0002g0199 others(74): Show |
78 | 220 | 0.3545 | 3 | c.100 others(20): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ATP2C2_chr16_84363538_84469187 | 84401222 | C | CTTT | intron_variant | MODIFIER | HG00735.hp1 HG01243.hp1 HG02647.hp1 others(6): Show |
a0001a0002a0014others(1): Show | a0001c0001a0001c0003a0001c0005others(5): Show | a0001c0001t0002a0001c0003t0001a0001c0003t0002others(6): Show | a0001c0001t0002g0379 a0001c0003t0001g0156 a0001c0003t0002g0173 others(6): Show |
9 | 29 | 0.3103 | 3 | c.210 others(20): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ATP2C2_chr16_84363538_84469187 | 84419208 | T | TAAA | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00609.hp1 others(20): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0079 a0001c0001t0002g0361 a0001c0001t0003g0192 others(20): Show |
23 | 52 | 0.4423 | 3 | c.625 others(20): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ATP2C2_chr16_84363538_84469187 | 84419646 | C | CCTG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(300): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0002a0001c0003others(62): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(81): Show | a0001c0001t0001g0079 a0001c0001t0001g0312 a0001c0001t0001g0334 others(299): Show |
303 | 430 | 0.7047 | 3 | c.625 others(20): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ATP2C2_chr16_84363538_84469187 | 84430639 | C | CAAA | intron_variant | MODIFIER | HG02055.hp2 HG03927.hp1 NA18906.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0004a0002c0006others(1): Show | a0001c0001t0002a0002c0004t0001a0002c0006t0001others(1): Show | a0001c0001t0002g0199 a0002c0004t0001g0222 a0002c0004t0001g0223 others(4): Show |
7 | 83 | 0.0843 | 3 | c.986 others(20): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ATP2C2_chr16_84363538_84469187 | 84436763 | G | GTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(159): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0001c0003others(36): Show | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(48): Show | a0001c0001t0002g0227 a0001c0001t0002g0294 a0001c0001t0002g0311 others(158): Show |
162 | 229 | 0.7074 | 3 | c.987 others(20): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ATP2C2_chr16_84363538_84469187 | 84464447 | T | TAAA | downstream_gene_variant | MODIFIER | HG01192.hp1 HG01433.hp1 HG01934.hp2 others(36): Show |
a0001a0002a0003others(3): Show | a0001c0003a0001c0005a0001c0009others(13): Show | a0001c0003t0001a0001c0005t0001a0001c0009t0001others(13): Show | a0001c0003t0001g0032 a0001c0003t0001g0040 a0001c0003t0001g0083 others(36): Show |
39 | 275 | 0.1418 | 3 | c.*71 others(12): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 261 | chr16 | TogoVar | |||||||
ATP4A_chr19_35545031_35568658 | 35566049 | C | CAAA | upstream_gene_variant | MODIFIER | HG00621.hp1 HG00738.hp2 HG01891.hp1 others(22): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(7): Show | a0001c0001t0001g0009 a0001c0003t0001g0087 a0001c0004t0001g0028 others(15): Show |
25 | 307 | 0.0814 | 3 | c.-24 others(14): Show |
ATP4A | ENSG00000105675.9 | transcript | ENST00000262623.4 | protein_coding | 2392 | chr19 | TogoVar | |||||||
ATP4B_chr13_113643804_113663198 | 113655655 | G | GATC | intron_variant | MODIFIER | HG02615.hp1 HG03098.hp2 HG03195.hp2 |
a0001 | a0001c0002a0001c0003a0001c0010 | a0001c0002t0001a0001c0003t0001a0001c0010t0001 | a0001c0002t0001g0177 a0001c0003t0001g0176 a0001c0010t0001g0053 |
3 | 454 | 0.0066 | 3 | c.113 others(18): Show |
ATP4B | ENSG00000186009.5 | transcript | ENST00000335288.5 | protein_coding | 1/6 | chr13 | TogoVar | |||||||
ATP5F1A_chr18_46075248_46103296 | 46075790 | C | CTTT | downstream_gene_variant | MODIFIER | HG01109.hp2 HG02615.hp2 HG02896.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0034a0001c0001t0037a0001c0001t0107others(1): Show | a0001c0001t0034g0189 a0001c0001t0034g0190 a0001c0001t0037g0043 others(2): Show |
6 | 302 | 0.0199 | 3 | c.*84 others(14): Show |
ATP5F1A | ENSG00000152234.16 | transcript | ENST00000398752.11 | protein_coding | 4457 | chr18 | TogoVar | |||||||
ATP5F1A_chr18_46075248_46103296 | 46092180 | A | AAAT | intron_variant | MODIFIER | HG00558.hp2 HG00735.hp1 HG01071.hp2 others(49): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(18): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0032 others(29): Show |
52 | 100 | 0.5200 | 3 | c.140 others(18): Show |
ATP5F1A | ENSG00000152234.16 | transcript | ENST00000398752.11 | protein_coding | 2/11 | chr18 | TogoVar | |||||||
ATP5F1A_chr18_46075248_46103296 | 46096500 | C | CAAA | intron_variant | MODIFIER | HG01496.hp2 HG02647.hp2 HG02818.hp1 others(7): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0014a0001c0001t0035a0001c0001t0102others(2): Show | a0001c0001t0014g0017 a0001c0001t0014g0193 a0001c0001t0035g0044 others(3): Show |
10 | 274 | 0.0365 | 3 | c.61- others(18): Show |
ATP5F1A | ENSG00000152234.16 | transcript | ENST00000398752.11 | protein_coding | 1/11 | chr18 | TogoVar | |||||||
ATP5F1A_chr18_46075248_46103296 | 46098362 | A | AACC | upstream_gene_variant | MODIFIER | NA18947.hp1 NA18972.hp1 NA19057.hp1 |
a0001 | a0001c0002 | a0001c0002t0009a0001c0002t0036a0001c0002t0106 | a0001c0002t0009g0018 a0001c0002t0036g0203 a0001c0002t0106g0202 |
3 | 360 | 0.0083 | 3 | c.-13 others(12): Show |
ATP5F1A | ENSG00000152234.16 | transcript | ENST00000398752.11 | protein_coding | 67 | chr18 | TogoVar | |||||||
ATP5F1B_chr12_56633175_56650984 | 56640870 | T | TAAA | intron_variant | MODIFIER | HG01109.hp2 HG02572.hp1 HG02809.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 10 | 240 | 0.0417 | 3 | c.107 others(20): Show |
ATP5F1B | ENSG00000110955.9 | transcript | ENST00000262030.8 | protein_coding | 7/9 | chr12 | TogoVar | |||||||
ATP5IF1_chr1_28231124_28243100 | 28241437 | A | AAAT | downstream_gene_variant | MODIFIER | HG02723.hp1 HG03139.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 | 3 | 358 | 0.0084 | 3 | c.*34 others(14): Show |
ATP5IF1 | ENSG00000130770.18 | transcript | ENST00000335514.10 | protein_coding | 3338 | chr1 | TogoVar | |||||||
ATP5MC1_chr17_48887787_48900871 | 48888978 | C | CAAA | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(89): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0011 others(5): Show |
92 | 103 | 0.8932 | 3 | c.-39 others(14): Show |
ATP5MC1 | ENSG00000159199.14 | transcript | ENST00000393366.7 | protein_coding | 3808 | chr17 | TogoVar | |||||||
ATP5MC1_chr17_48887787_48900871 | 48890429 | T | TAAA | upstream_gene_variant | MODIFIER | HG01175.hp2 NA18940.hp2 NA18955.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 205 | 0.0195 | 3 | c.-24 others(14): Show |
ATP5MC1 | ENSG00000159199.14 | transcript | ENST00000393366.7 | protein_coding | 2357 | chr17 | TogoVar | |||||||
ATP5MC1_chr17_48887787_48900871 | 48892381 | G | GCCC | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00735.hp1 HG01070.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0004 |
26 | 195 | 0.1333 | 3 | c.-53 others(12): Show |
ATP5MC1 | ENSG00000159199.14 | transcript | ENST00000393366.7 | protein_coding | 405 | chr17 | TogoVar | |||||||
ATP5MC1_chr17_48887787_48900871 | 48892386 | C | CCCG | upstream_gene_variant | MODIFIER | HG01069.hp2 HG01074.hp1 HG01168.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 15 | 332 | 0.0452 | 3 | c.-53 others(12): Show |
ATP5MC1 | ENSG00000159199.14 | transcript | ENST00000393366.7 | protein_coding | 400 | chr17 | TogoVar | |||||||
ATP5MC1_chr17_48887787_48900871 | 48892389 | C | CCCG | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00423.hp1 others(87): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0013 others(3): Show |
90 | 245 | 0.3673 | 3 | c.-53 others(12): Show |
ATP5MC1 | ENSG00000159199.14 | transcript | ENST00000393366.7 | protein_coding | 397 | chr17 | TogoVar | |||||||
ATP5MC1_chr17_48887787_48900871 | 48899067 | C | CAAA | downstream_gene_variant | MODIFIER | HG02451.hp1 HG02809.hp1 HG03516.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0003g0003 others(1): Show |
7 | 14 | 0.5000 | 3 | c.*32 others(14): Show |
ATP5MC1 | ENSG00000159199.14 | transcript | ENST00000393366.7 | protein_coding | 3197 | chr17 | TogoVar | |||||||
ATP5MC1_chr17_48887787_48900871 | 48899309 | G | GGGT | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00639.hp2 HG01070.hp2 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0013 |
38 | 239 | 0.1590 | 3 | c.*35 others(14): Show |
ATP5MC1 | ENSG00000159199.14 | transcript | ENST00000393366.7 | protein_coding | 3439 | chr17 | TogoVar | |||||||
ATP5MC1_chr17_48887787_48900871 | 48899534 | C | CAAA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00423.hp1 others(107): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0012 others(4): Show |
110 | 306 | 0.3595 | 3 | c.*37 others(14): Show |
ATP5MC1 | ENSG00000159199.14 | transcript | ENST00000393366.7 | protein_coding | 3664 | chr17 | TogoVar | |||||||
ATP5MC2_chr12_53660170_53681083 | 53660854 | T | TCAA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(251): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(109): Show |
254 | 322 | 0.7888 | 3 | c.*44 others(14): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 4315 | chr12 | TogoVar | |||||||
ATP5MC2_chr12_53660170_53681083 | 53662316 | C | CTTA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(287): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(123): Show |
290 | 416 | 0.6971 | 3 | c.*29 others(14): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 2853 | chr12 | TogoVar | |||||||
ATP5MC2_chr12_53660170_53681083 | 53663283 | A | AAAC | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(145): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(66): Show |
148 | 416 | 0.3558 | 3 | c.*20 others(14): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 1886 | chr12 | TogoVar | |||||||
ATP5MC2_chr12_53660170_53681083 | 53666943 | C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00741.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 a0001c0001t0001g0039 a0001c0001t0001g0041 others(8): Show |
15 | 79 | 0.1899 | 3 | c.312 others(20): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 4/4 | chr12 | TogoVar | |||||||
ATP5ME_chr4_667436_679276 | 669243 | C | CTAT | downstream_gene_variant | MODIFIER | HG00639.hp2 HG00673.hp2 HG01109.hp2 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0018 |
38 | 185 | 0.2054 | 3 | c.*32 others(14): Show |
ATP5ME | ENSG00000169020.10 | transcript | ENST00000304312.5 | protein_coding | 3192 | chr4 | TogoVar | |||||||
ATP5MF_chr7_99453195_99471167 | 99462288 | T | TAAA | intron_variant | MODIFIER | HG02451.hp1 HG02572.hp1 HG02615.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0055 a0001c0001t0001g0081 a0001c0001t0002g0080 others(1): Show |
9 | 149 | 0.0604 | 3 | c.32- others(18): Show |
ATP5MF | ENSG00000241468.8 | transcript | ENST00000292475.8 | protein_coding | 1/3 | chr7 | TogoVar | |||||||
ATP5MG_chr11_118396606_118414847 | 118412463 | C | CAAA | downstream_gene_variant | MODIFIER | HG00544.hp2 HG01106.hp1 NA18946.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0029 others(2): Show |
16 | 73 | 0.2192 | 3 | c.*33 others(14): Show |
ATP5MG | ENSG00000167283.9 | transcript | ENST00000300688.8 | protein_coding | 2617 | chr11 | TogoVar | |||||||
ATP5MJ_chr14_103907288_103926529 | 103914837 | C | CAAA | intron_variant | MODIFIER | HG01081.hp1 HG01891.hp1 HG02258.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0013 a0002c0002t0001g0105 |
6 | 347 | 0.0173 | 3 | c.124 others(18): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 2/3 | chr14 | TogoVar | |||||||
ATP5MJ_chr14_103907288_103926529 | 103915648 | A | ATTT | intron_variant | MODIFIER | HG00735.hp1 HG01074.hp1 HG01081.hp1 others(27): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0001 | a0001c0001t0004g0048 a0002c0002t0001g0007 a0002c0002t0001g0013 others(11): Show |
30 | 333 | 0.0901 | 3 | c.1-4 others(14): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 1/3 | chr14 | TogoVar | |||||||
ATP5MJ_chr14_103907288_103926529 | 103920468 | C | CTTT | intron_variant | MODIFIER | HG00609.hp2 HG00621.hp1 HG02486.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0001g0178 a0001c0001t0004g0048 a0001c0001t0004g0049 others(7): Show |
11 | 270 | 0.0407 | 3 | c.-1+ others(17): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 1/3 | chr14 | TogoVar | |||||||
ATP5MJ_chr14_103907288_103926529 | 103922347 | A | ATAT | upstream_gene_variant | MODIFIER | HG00741.hp1 HG01069.hp1 HG01070.hp2 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 others(13): Show |
37 | 340 | 0.1088 | 3 | c.-87 others(12): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 819 | chr14 | TogoVar | |||||||
ATP5MJ_chr14_103907288_103926529 | 103922347 | A | ATTT | upstream_gene_variant | MODIFIER | HG01123.hp2 HG02886.hp2 HG03041.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0011 others(4): Show |
9 | 312 | 0.0288 | 3 | c.-88 others(12): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 819 | chr14 | TogoVar | |||||||
ATP5MJ_chr14_103907288_103926529 | 103922348 | T | TATA | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00642.hp1 HG00733.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 others(10): Show |
24 | 421 | 0.0570 | 3 | c.-88 others(12): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 820 | chr14 | TogoVar | |||||||
ATP5MJ_chr14_103907288_103926529 | 103922634 | C | CAAA | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(114): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0017 others(51): Show |
117 | 290 | 0.4034 | 3 | c.-11 others(14): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 1106 | chr14 | TogoVar | |||||||
ATP5MK_chr10_103384050_103401475 | 103386664 | A | ATTT | downstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG03491.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014 a0001c0001t0002g0071 |
7 | 254 | 0.0276 | 3 | c.*25 others(14): Show |
ATP5MK | ENSG00000173915.16 | transcript | ENST00000369815.6 | protein_coding | 2385 | chr10 | TogoVar | |||||||
ATP5PB_chr1_111444464_111467773 | 111452578 | T | TAAA | intron_variant | MODIFIER | HG01099.hp1 HG01891.hp1 HG02145.hp2 others(22): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0009 | a0001c0001t0005a0001c0001t0012a0001c0001t0017others(2): Show | a0001c0001t0005g0012 a0001c0001t0005g0041 a0001c0001t0005g0112 others(10): Show |
25 | 432 | 0.0579 | 3 | c.78- others(18): Show |
ATP5PB | ENSG00000116459.11 | transcript | ENST00000369722.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP5PB_chr1_111444464_111467773 | 111454438 | T | TTTG | intron_variant | MODIFIER | HG01070.hp2 NA18981.hp1 NA19068.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024 | 3 | 420 | 0.0071 | 3 | c.223 others(18): Show |
ATP5PB | ENSG00000116459.11 | transcript | ENST00000369722.8 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP5PF_chr21_25719500_25739904 | 25720456 | G | GTTT | downstream_gene_variant | MODIFIER | HG01109.hp2 HG02055.hp2 HG02258.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0020 a0001c0001t0001g0036 a0001c0001t0001g0054 others(4): Show |
13 | 96 | 0.1354 | 3 | c.*41 others(14): Show |
ATP5PF | ENSG00000154723.13 | transcript | ENST00000284971.8 | protein_coding | 4043 | chr21 | TogoVar | |||||||
ATP5PF_chr21_25719500_25739904 | 25730736 | C | CAAA | intron_variant | MODIFIER | HG00280.hp2 HG00733.hp1 HG01255.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0065 a0001c0001t0001g0090 others(4): Show |
18 | 38 | 0.4737 | 3 | c.-7- others(16): Show |
ATP5PF | ENSG00000154723.13 | transcript | ENST00000284971.8 | protein_coding | 1/3 | chr21 | TogoVar | |||||||
ATP5PF_chr21_25719500_25739904 | 25730736 | C | CACA | intron_variant | MODIFIER | HG00099.hp1 HG00609.hp1 HG00621.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0058 a0001c0001t0001g0130 others(6): Show |
19 | 39 | 0.4872 | 3 | c.-7- others(16): Show |
ATP5PF | ENSG00000154723.13 | transcript | ENST00000284971.8 | protein_coding | 1/3 | chr21 | TogoVar | |||||||
ATP5PF_chr21_25719500_25739904 | 25732985 | C | CAAA | intron_variant | MODIFIER | HG00738.hp1 HG01109.hp1 HG01175.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0133 others(9): Show |
14 | 82 | 0.1707 | 3 | c.-8+ others(18): Show |
ATP5PF | ENSG00000154723.13 | transcript | ENST00000284971.8 | protein_coding | 1/3 | chr21 | TogoVar | |||||||
ATP5PO_chr21_33898453_33920804 | 33905918 | G | GAAA | intron_variant | MODIFIER | HG00558.hp1 HG00621.hp2 HG02015.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0062 a0001c0001t0001g0063 others(5): Show |
17 | 159 | 0.1069 | 3 | c.441 others(20): Show |
ATP5PO | ENSG00000241837.7 | transcript | ENST00000290299.7 | protein_coding | 5/6 | chr21 | TogoVar |