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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP1B3_chr3_141871643_141931549 | 141889746 | A | ATAT | intron_variant | MODIFIER | HG01069.hp2 HG03834.hp1 NA18979.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0012 a0001c0001t0004g0335 a0001c0001t0004g0347 others(1): Show |
5 | 345 | 0.0145 | 3 | c.109 others(22): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
ATP1B3_chr3_141871643_141931549 | 141889748 | A | ATAT | intron_variant | MODIFIER | HG01109.hp2 HG03130.hp1 NA18941.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0247 a0001c0001t0003g0296 a0001c0001t0004g0343 others(1): Show |
4 | 321 | 0.0125 | 3 | c.109 others(22): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
ATP1B3_chr3_141871643_141931549 | 141892651 | C | CAAA | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00423.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0252 a0001c0001t0001g0263 a0001c0001t0001g0264 others(6): Show |
9 | 119 | 0.0756 | 3 | c.110 others(22): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP1B3_chr3_141871643_141931549 | 141904703 | C | CTTT | intron_variant | MODIFIER | HG00738.hp2 HG01433.hp1 HG02451.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002 a0001c0001t0001g0082 a0001c0001t0001g0084 others(10): Show |
14 | 168 | 0.0833 | 3 | c.238 others(18): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP1B4_chrX_120357089_120388237 | 120374828 | A | ATAT | intron_variant | MODIFIER | HG01891.hp2 HG02027.hp1 HG02040.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006 | a0001c0001t0001g0137 a0001c0001t0003g0038 a0001c0001t0006g0071 others(1): Show |
5 | 350 | 0.0143 | 3 | c.563 others(18): Show |
ATP1B4 | ENSG00000101892.12 | transcript | ENST00000218008.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ATP23_chr12_57936567_57964148 | 57954194 | C | CAAA | intron_variant | MODIFIER | HG00544.hp1 HG01069.hp2 HG01123.hp1 others(64): Show |
a0001a0004 | a0001c0003a0004c0008 | a0001c0003t0001a0001c0003t0002a0001c0003t0005others(6): Show | a0001c0003t0001g0003 a0001c0003t0001g0035 a0001c0003t0001g0036 others(21): Show |
67 | 213 | 0.3146 | 3 | c.537 others(18): Show |
ATP23 | ENSG00000166896.9 | transcript | ENST00000300145.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ATP23_chr12_57936567_57964148 | 57961761 | G | GGAC | downstream_gene_variant | MODIFIER | HG00738.hp2 HG02615.hp1 HG03486.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 a0001c0002t0001g0117 |
3 | 392 | 0.0077 | 3 | c.*48 others(14): Show |
ATP23 | ENSG00000166896.9 | transcript | ENST00000300145.4 | protein_coding | 2614 | chr12 | TogoVar | |||||||
ATP2A1_chr16_28873488_28909466 | 28882100 | C | CTTT | intron_variant | MODIFIER | HG01106.hp1 HG01891.hp2 HG02055.hp1 others(11): Show |
a0001a0003a0005 | a0001c0002a0003c0008a0005c0007 | a0001c0002t0003a0001c0002t0008a0003c0008t0003others(1): Show | a0001c0002t0003g0036 a0001c0002t0003g0076 a0001c0002t0003g0077 others(11): Show |
14 | 197 | 0.0711 | 3 | c.325 others(18): Show |
ATP2A1 | ENSG00000196296.14 | transcript | ENST00000395503.9 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ATP2A1_chr16_28873488_28909466 | 28899643 | G | GCCC | intron_variant | MODIFIER | HG02027.hp1 HG02040.hp2 HG02602.hp1 others(12): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0011 | a0001c0001t0001a0001c0002t0001a0006c0011t0001 | a0001c0001t0001g0002 a0001c0001t0001g0021 a0001c0001t0001g0024 others(11): Show |
15 | 339 | 0.0442 | 3 | c.176 others(20): Show |
ATP2A1 | ENSG00000196296.14 | transcript | ENST00000395503.9 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ATP2A2_chr12_110276247_110356093 | 110302584 | C | CTAT | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00642.hp1 others(103): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(102): Show |
106 | 145 | 0.7310 | 3 | c.463 others(20): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ATP2A2_chr12_110276247_110356093 | 110309140 | A | ATTT | intron_variant | MODIFIER | HG00558.hp1 HG01081.hp1 HG02071.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0013 | a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0078 others(11): Show |
14 | 58 | 0.2414 | 3 | c.463 others(22): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ATP2A2_chr12_110276247_110356093 | 110311595 | C | CAAA | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00642.hp2 others(16): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0027others(1): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(16): Show |
19 | 103 | 0.1845 | 3 | c.464 others(22): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ATP2A2_chr12_110276247_110356093 | 110313310 | C | CTTT | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01943.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0048 a0001c0001t0007g0049 a0001c0001t0007g0050 others(2): Show |
5 | 75 | 0.0667 | 3 | c.464 others(20): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ATP2A3_chr17_3918873_3969437 | 3934538 | T | TTTC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00639.hp2 others(38): Show |
a0001 | a0001c0002a0001c0004a0001c0008others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(15): Show | a0001c0002t0001g0131 a0001c0002t0001g0167 a0001c0002t0002g0124 others(36): Show |
41 | 328 | 0.1250 | 3 | c.261 others(20): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 17/20 | chr17 | TogoVar | |||||||
ATP2A3_chr17_3918873_3969437 | 3935535 | C | CTTT | intron_variant | MODIFIER | HG02135.hp1 HG03669.hp1 HG03669.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0286 a0001c0001t0003g0210 a0001c0001t0004g0223 others(4): Show |
7 | 155 | 0.0452 | 3 | c.252 others(20): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 16/20 | chr17 | TogoVar | |||||||
ATP2A3_chr17_3918873_3969437 | 3939786 | T | TTAA | intron_variant | MODIFIER | HG01243.hp2 HG02965.hp1 HG03453.hp1 |
a0002 | a0002c0006a0002c0022 | a0002c0006t0001a0002c0022t0001 | a0002c0006t0001g0055 a0002c0006t0001g0061 a0002c0022t0001g0042 |
3 | 117 | 0.0256 | 3 | c.210 others(22): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 14/20 | chr17 | TogoVar | |||||||
ATP2A3_chr17_3918873_3969437 | 3965847 | A | ATAT | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01069.hp2 HG01071.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0002t0001g0131 others(1): Show |
4 | 302 | 0.0132 | 3 | c.-15 others(14): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 1411 | chr17 | TogoVar | |||||||
ATP2A3_chr17_3918873_3969437 | 3965849 | T | TTTA | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00438.hp1 others(16): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0160 others(15): Show |
19 | 227 | 0.0837 | 3 | c.-15 others(14): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 1413 | chr17 | TogoVar | |||||||
ATP2A3_chr17_3918873_3969437 | 3966363 | G | GTTT | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00738.hp1 HG02056.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0016 a0001c0001t0001g0143 a0001c0001t0001g0191 others(7): Show |
10 | 35 | 0.2857 | 3 | c.-20 others(14): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 1927 | chr17 | TogoVar | |||||||
ATP2B1_chr12_89583049_89713838 | 89583790 | C | CGGG | downstream_gene_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG01168.hp1 others(20): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0029 a0001c0001t0001g0058 a0001c0001t0001g0067 others(20): Show |
23 | 117 | 0.1966 | 3 | c.*71 others(14): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 4258 | chr12 | TogoVar | |||||||
ATP2B1_chr12_89583049_89713838 | 89598039 | C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(136): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 others(135): Show |
139 | 150 | 0.9267 | 3 | c.335 others(22): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 20/20 | chr12 | TogoVar | |||||||
ATP2B1_chr12_89583049_89713838 | 89623073 | T | TACC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(312): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0001 a0001c0001t0001g0029 a0001c0001t0001g0036 others(309): Show |
315 | 330 | 0.9545 | 3 | c.134 others(22): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 9/20 | chr12 | TogoVar | |||||||
ATP2B1_chr12_89583049_89713838 | 89671771 | G | GTTT | intron_variant | MODIFIER | HG00738.hp1 HG00741.hp1 HG01070.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0011 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(3): Show | a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0213 others(19): Show |
22 | 51 | 0.4314 | 3 | c.-22 others(24): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
ATP2B2_chr3_10319023_10510586 | 10382513 | A | ATTT | intron_variant | MODIFIER | HG00597.hp1 HG02647.hp1 HG02738.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(2): Show | a0001c0001t0001g0095 a0001c0001t0001g0145 a0001c0001t0001g0245 others(4): Show |
7 | 201 | 0.0348 | 3 | c.100 others(22): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 8/22 | chr3 | TogoVar | |||||||
ATP2B2_chr3_10319023_10510586 | 10440100 | T | TAAA | intron_variant | MODIFIER | HG01071.hp2 HG01175.hp1 HG01934.hp2 others(14): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0020others(10): Show | a0001c0001t0001g0166 a0001c0001t0003g0045 a0001c0001t0020g0057 others(14): Show |
17 | 108 | 0.1574 | 3 | c.199 others(20): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 2/22 | chr3 | TogoVar | |||||||
ATP2B2_chr3_10319023_10510586 | 10490400 | C | CTTT | intron_variant | MODIFIER | HG02055.hp1 HG02074.hp2 HG02165.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0013a0001c0002t0002others(9): Show | a0001c0001t0001g0095 a0001c0001t0013g0062 a0001c0001t0013g0258 others(16): Show |
19 | 75 | 0.2533 | 3 | c.-32 others(24): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
ATP2B2_chr3_10319023_10510586 | 10492189 | A | ACAG | intron_variant | MODIFIER | HG00597.hp2 NA18747.hp1 NA18941.hp1 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0001a0001c0005t0001 | a0001c0003t0001g0015 a0001c0005t0001g0014 a0001c0005t0001g0064 |
3 | 288 | 0.0104 | 3 | c.-32 others(24): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
ATP2B2_chr3_10319023_10510586 | 10499931 | C | CTTT | intron_variant | MODIFIER | HG02451.hp1 HG02723.hp1 HG03195.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004a0001c0007others(1): Show | a0001c0001t0035a0001c0004t0002a0001c0004t0005others(4): Show | a0001c0001t0035g0115 a0001c0004t0002g0117 a0001c0004t0005g0177 others(4): Show |
7 | 248 | 0.0282 | 3 | c.-32 others(22): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
ATP2B3_chrX_153512642_153587929 | 153557882 | G | GCGC | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp2 HG00621.hp1 others(83): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0020a0001c0002t0001a0001c0002t0002others(16): Show | a0001c0001t0020g0199 a0001c0002t0001g0001 a0001c0002t0001g0011 others(71): Show |
86 | 228 | 0.3772 | 3 | c.243 others(20): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ATP2B3_chrX_153512642_153587929 | 153563136 | C | CTTT | intron_variant | MODIFIER | HG00558.hp2 HG00639.hp1 HG00639.hp2 others(24): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(13): Show | a0001c0001t0001g0006 a0001c0001t0001g0054 a0001c0001t0001g0103 others(22): Show |
27 | 28 | 0.9643 | 3 | c.315 others(20): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ATP2B3_chrX_153512642_153587929 | 153585427 | A | ATGG | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp1 others(201): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(48): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(180): Show |
204 | 265 | 0.7698 | 3 | c.*51 others(14): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 2499 | chrX | TogoVar | |||||||
ATP2B4_chr1_203621832_203749081 | 203624253 | G | GGAA | upstream_gene_variant | MODIFIER | HG00544.hp2 NA18948.hp1 NA18991.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0011a0001c0003t0007 | a0001c0001t0003g0201 a0001c0001t0003g0203 a0001c0001t0011g0202 others(1): Show |
4 | 225 | 0.0178 | 3 | c.-34 others(14): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 2578 | chr1 | TogoVar | |||||||
ATP2B4_chr1_203621832_203749081 | 203625326 | C | CAAA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(81): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0057 a0001c0001t0001g0079 a0001c0001t0002g0175 others(81): Show |
84 | 182 | 0.4615 | 3 | c.-23 others(14): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 1505 | chr1 | TogoVar | |||||||
ATP2B4_chr1_203621832_203749081 | 203627674 | G | GAAA | intron_variant | MODIFIER | HG00438.hp2 HG02083.hp2 HG02132.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0005g0008 others(3): Show |
6 | 108 | 0.0556 | 3 | c.-46 others(20): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203666325 | T | TCTC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(308): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(80): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0015 others(307): Show |
311 | 316 | 0.9842 | 3 | c.-46 others(24): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203678392 | C | CTTT | intron_variant | MODIFIER | HG02055.hp2 HG02258.hp2 HG03710.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0002g0051 a0001c0001t0003g0001 a0001c0001t0003g0294 others(7): Show |
11 | 135 | 0.0815 | 3 | c.-46 others(22): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203681933 | T | TAAA | intron_variant | MODIFIER | HG02074.hp2 NA18994.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0007 | a0001c0001t0002g0290 a0001c0001t0004g0232 a0001c0001t0007g0193 |
3 | 34 | 0.0882 | 3 | c.-46 others(20): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203686685 | C | CTTT | intron_variant | MODIFIER | HG01109.hp1 HG01346.hp2 HG02965.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0041 a0001c0001t0001g0079 a0001c0001t0001g0087 others(6): Show |
9 | 41 | 0.2195 | 3 | c.193 others(20): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203687993 | A | AGAT | intron_variant | MODIFIER | HG01346.hp1 HG02572.hp1 HG03453.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0003a0001c0001t0011a0001c0001t0043others(2): Show | a0001c0001t0003g0300 a0001c0001t0011g0235 a0001c0001t0043g0158 others(2): Show |
5 | 316 | 0.0158 | 3 | c.193 others(20): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203687994 | G | GATT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(54): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0041 a0001c0001t0001g0055 a0001c0001t0001g0079 others(54): Show |
57 | 126 | 0.4524 | 3 | c.193 others(20): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203704467 | C | CTTT | intron_variant | MODIFIER | HG02040.hp2 HG02572.hp2 HG02896.hp2 others(11): Show |
a0001 | a0001c0001a0001c0006a0001c0011 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(5): Show | a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0175 others(11): Show |
14 | 78 | 0.1795 | 3 | c.109 others(20): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203724865 | C | CTCT | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00544.hp1 others(38): Show |
a0001a0006 | a0001c0001a0001c0003a0001c0021others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0092 a0001c0001t0002g0044 a0001c0001t0002g0050 others(38): Show |
41 | 302 | 0.1358 | 3 | c.313 others(20): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203725904 | C | CTTT | intron_variant | MODIFIER | HG01074.hp1 HG01993.hp1 HG02027.hp1 others(24): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0023others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(13): Show | a0001c0001t0002g0050 a0001c0001t0002g0153 a0001c0001t0002g0238 others(24): Show |
27 | 147 | 0.1837 | 3 | c.313 others(22): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203731849 | C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(98): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(41): Show | a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0050 others(98): Show |
101 | 192 | 0.5260 | 3 | c.330 others(22): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP2C1_chr3_130889084_131008150 | 130889638 | C | CTTT | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00609.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0011 | a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 others(30): Show |
33 | 219 | 0.1507 | 3 | c.-48 others(14): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 4445 | chr3 | TogoVar | |||||||
ATP2C1_chr3_130889084_131008150 | 130940905 | A | ATTT | intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00735.hp2 others(21): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0002t0001a0003c0005t0003 | a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0132 others(21): Show |
24 | 196 | 0.1224 | 3 | c.422 others(18): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 7/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP2C1_chr3_130889084_131008150 | 130973069 | T | TAAG | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00544.hp1 others(120): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0007a0001c0002t0001others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(117): Show |
123 | 380 | 0.3237 | 3 | c.141 others(22): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 17/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP2C1_chr3_130889084_131008150 | 130986184 | C | CTTT | intron_variant | MODIFIER | HG00639.hp1 HG01358.hp2 HG02055.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0157 others(4): Show |
7 | 71 | 0.0986 | 3 | c.183 others(22): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP2C1_chr3_130889084_131008150 | 130989565 | C | CAAA | intron_variant | MODIFIER | HG02027.hp2 NA18747.hp2 NA18954.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 others(4): Show |
7 | 120 | 0.0583 | 3 | c.184 others(22): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP2C1_chr3_130889084_131008150 | 130990272 | A | ACCC | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp1 HG00741.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0079 others(15): Show |
18 | 163 | 0.1104 | 3 | c.184 others(22): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |