regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASH1L_chr1_155330268_155567803 | 155411586 | A | AATAAATA others(27): Show |
intron_variant | MODIFIER | HG01261.hp2 NA19068.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057a0001c0001t0001g0150 | 2 | 182 | 0.0110 | 34 | c.600 others(53): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 6/27 | chr1 | TogoVar | ||||||
ASH1L_chr1_155330268_155567803 | 155411586 | A | AATATATA others(27): Show |
intron_variant | MODIFIER | HG02083.hp1 HG03239.hp2 NA18979.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0056a0001c0001t0001g0126a0001c0001t0001g0149others(1): Show | 4 | 182 | 0.0220 | 34 | c.600 others(53): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 6/27 | chr1 | TogoVar | ||||||
ASIP_chr20_34236423_34274344 | 34258674 | C | CATATATA others(27): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01952.hp1 HG03490.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0022a0001c0001t0001g0136a0001c0001t0001g0157others(3): Show | 7 | 306 | 0.0229 | 34 | c.-10 others(51): Show |
ASIP | ENSG00000101440.10 | transcript | ENST00000374954.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ASIP_chr20_34236423_34274344 | 34258682 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0065 | 1 | 306 | 0.0033 | 34 | c.-10 others(51): Show |
ASIP | ENSG00000101440.10 | transcript | ENST00000374954.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ASIP_chr20_34236423_34274344 | 34258685 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0060 | 1 | 306 | 0.0033 | 34 | c.-10 others(51): Show |
ASIP | ENSG00000101440.10 | transcript | ENST00000374954.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ASIP_chr20_34236423_34274344 | 34258688 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02132.hp1 NA19010.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131a0001c0001t0001g0132a0001c0001t0001g0179 | 3 | 306 | 0.0098 | 34 | c.-10 others(51): Show |
ASIP | ENSG00000101440.10 | transcript | ENST00000374954.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ASMTL_chrX_1398139_1457909 | 1416202 | C | CACAGATG others(27): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02280.hp2 HG03195.hp2 others(2): Show |
a0002a0005 | a0002c0003a0002c0009a0002c0031others(2): Show | a0002c0003t0001a0002c0009t0001a0002c0031t0001others(2): Show | a0002c0003t0001g0176a0002c0009t0001g0072a0002c0031t0001g0131others(2): Show | 5 | 185 | 0.0270 | 34 | c.152 others(53): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 11/12 | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1610080 | C | CCTGCTCC others(27): Show |
upstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0145 | 1 | 223 | 0.0045 | 34 | c.-51 others(45): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 4978 | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1610565 | C | CCCCTACT others(27): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00544.hp2 others(50): Show |
a0001a0002a0007others(4): Show | a0001c0001a0001c0003a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(9): Show | a0001c0001t0001g0005a0001c0001t0001g0041a0001c0001t0001g0053others(50): Show | 53 | 223 | 0.2377 | 34 | c.-46 others(45): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 4493 | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1613197 | T | TTCTTTCT others(27): Show |
upstream_gene_variant | MODIFIER | NA19030.hp2 | a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0011 | 1 | 223 | 0.0045 | 34 | c.-20 others(45): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 1861 | chrX | TogoVar | ||||||
ASNSD1_chr2_189656459_189675831 | 189665604 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0069 | 1 | 340 | 0.0029 | 34 | c.-93 others(49): Show |
ASNSD1 | ENSG00000138381.10 | transcript | ENST00000260952.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ASPH_chr8_61495556_61719592 | 61539699 | G | GGTGTGTG others(27): Show |
intron_variant | MODIFIER | HG01074.hp1 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0085a0001c0001t0004g0210 | 2 | 258 | 0.0078 | 34 | c.176 others(53): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 21/24 | chr8 | TogoVar | ||||||
ASS1_chr9_130439961_130506274 | 130465056 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 374 | 0.0027 | 34 | c.420 others(49): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ASTN2_chr9_116418112_117420057 | 116718972 | G | GTATATAT others(27): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0091 | 1 | 102 | 0.0098 | 34 | c.280 others(53): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 16/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116718972 | G | GTGTGTGT others(27): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0021 | a0001c0021t0006 | a0001c0021t0006g0056 | 1 | 102 | 0.0098 | 34 | c.280 others(53): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 16/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117003530 | G | GGTGTGTG others(27): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0008 | 1 | 102 | 0.0098 | 34 | c.159 others(53): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 7/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117048963 | C | CTTTTTTT others(27): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0042 | 1 | 102 | 0.0098 | 34 | c.127 others(53): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 5/22 | chr9 | TogoVar | ||||||
ASXL2_chr2_25728753_25883487 | 25849064 | C | CATATATA others(27): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG00597.hp1 others(8): Show |
a0001a0010 | a0001c0001a0010c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0152a0001c0001t0001g0166a0001c0001t0001g0199others(8): Show | 11 | 222 | 0.0496 | 34 | c.58- others(49): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
ASXL3_chr18_33573219_33756195 | 33601785 | G | GTATATAT others(27): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01361.hp2 HG01884.hp1 others(7): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0007a0001c0001t0008a0001c0001t0012others(5): Show | a0001c0001t0007g0011a0001c0001t0008g0019a0001c0001t0008g0020others(7): Show | 10 | 220 | 0.0455 | 34 | c.55- others(49): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ASXL3_chr18_33573219_33756195 | 33601785 | G | GTTTATAT others(27): Show |
intron_variant | MODIFIER | HG03209.hp1 HG03209.hp2 |
a0001a0015 | a0001c0017a0015c0014 | a0001c0017t0076a0015c0014t0082 | a0001c0017t0076g0175a0015c0014t0082g0003 | 2 | 220 | 0.0091 | 34 | c.55- others(49): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATAD1_chr10_87746512_87823226 | 87798623 | G | GGTGTGTG others(27): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0319 | 1 | 360 | 0.0028 | 34 | c.163 others(51): Show |
ATAD1 | ENSG00000138138.14 | transcript | ENST00000680024.1 | protein_coding | 2/9 | chr10 | TogoVar | ||||||
ATAD1_chr10_87746512_87823226 | 87798625 | G | GGTGTGTG others(27): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01433.hp1 HG02630.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0003a0003c0003t0002 | a0001c0001t0002g0126a0001c0001t0003g0066a0001c0001t0003g0082others(4): Show | 7 | 360 | 0.0194 | 34 | c.163 others(51): Show |
ATAD1 | ENSG00000138138.14 | transcript | ENST00000680024.1 | protein_coding | 2/9 | chr10 | TogoVar | ||||||
ATAD2B_chr2_23743664_23932123 | 23745422 | A | AAGGAAGG others(27): Show |
downstream_gene_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0111 | 1 | 246 | 0.0041 | 34 | c.*66 others(45): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 3241 | chr2 | TogoVar | ||||||
ATAD2B_chr2_23743664_23932123 | 23878025 | A | AAAAAAAA others(27): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0085 | 1 | 246 | 0.0041 | 34 | c.902 others(51): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 7/27 | chr2 | TogoVar | ||||||
ATAD2_chr8_123314850_123401447 | 123354864 | A | AAAATATA others(27): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0130 | 1 | 278 | 0.0036 | 34 | c.164 others(53): Show |
ATAD2 | ENSG00000156802.13 | transcript | ENST00000287394.10 | protein_coding | 13/27 | chr8 | TogoVar | ||||||
ATAD2_chr8_123314850_123401447 | 123377091 | C | CAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0046 | 1 | 278 | 0.0036 | 34 | c.320 others(51): Show |
ATAD2 | ENSG00000156802.13 | transcript | ENST00000287394.10 | protein_coding | 2/27 | chr8 | TogoVar | ||||||
ATAD2_chr8_123314850_123401447 | 123378701 | C | CAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0003 | a0003c0002 | a0003c0002t0006 | a0003c0002t0006g0016 | 1 | 278 | 0.0036 | 34 | c.320 others(51): Show |
ATAD2 | ENSG00000156802.13 | transcript | ENST00000287394.10 | protein_coding | 2/27 | chr8 | TogoVar | ||||||
ATAD2_chr8_123314850_123401447 | 123389960 | T | TTATATAT others(27): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0152 | 1 | 278 | 0.0036 | 34 | c.171 others(51): Show |
ATAD2 | ENSG00000156802.13 | transcript | ENST00000287394.10 | protein_coding | 1/27 | chr8 | TogoVar | ||||||
ATAD3B_chr1_1466765_1502848 | 1481986 | G | GGTGGCGT others(27): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02572.hp1 |
a0008 | a0008c0012 | a0008c0012t0011 | a0008c0012t0011g0188a0008c0012t0011g0189 | 2 | 276 | 0.0073 | 34 | c.515 others(49): Show |
ATAD3B | ENSG00000160072.20 | transcript | ENST00000673477.1 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATF1_chr12_50759101_50826162 | 50782345 | T | TCCCCCCA others(27): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0041 | 1 | 382 | 0.0026 | 34 | c.93+ others(49): Show |
ATF1 | ENSG00000123268.9 | transcript | ENST00000262053.8 | protein_coding | 2/6 | chr12 | TogoVar | ||||||
ATF1_chr12_50759101_50826162 | 50823638 | T | TTATATAT others(27): Show |
downstream_gene_variant | MODIFIER | HG01071.hp1 HG02109.hp1 HG02109.hp2 others(11): Show |
a0001a0002 | a0001c0002a0001c0006a0002c0005 | a0001c0002t0001a0001c0002t0006a0001c0002t0013others(3): Show | a0001c0002t0001g0325a0001c0002t0001g0328a0001c0002t0001g0329others(11): Show | 14 | 382 | 0.0367 | 34 | c.*38 others(45): Show |
ATF1 | ENSG00000123268.9 | transcript | ENST00000262053.8 | protein_coding | 2477 | chr12 | TogoVar | ||||||
ATF1_chr12_50759101_50826162 | 50823641 | T | TATATATA others(27): Show |
downstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0306 | 1 | 382 | 0.0026 | 34 | c.*38 others(45): Show |
ATF1 | ENSG00000123268.9 | transcript | ENST00000262053.8 | protein_coding | 2480 | chr12 | TogoVar | ||||||
ATF1_chr12_50759101_50826162 | 50825652 | T | TTTGAGAC others(27): Show |
downstream_gene_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 | 1 | 382 | 0.0026 | 34 | c.*58 others(45): Show |
ATF1 | ENSG00000123268.9 | transcript | ENST00000262053.8 | protein_coding | 4491 | chr12 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 81993359 | C | CTTTCTTT others(27): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0045 | 1 | 226 | 0.0044 | 34 | c.108 others(51): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 2/7 | chr5 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 81993360 | C | CTTCTTTC others(27): Show |
intron_variant | MODIFIER | HG03239.hp1 NA18951.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0011a0002c0002t0008 | a0001c0001t0011g0100a0002c0002t0008g0078 | 2 | 226 | 0.0089 | 34 | c.108 others(51): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATG10_chr5_81967023_82261133 | 82118387 | C | CATATATA others(27): Show |
intron_variant | MODIFIER | HG03130.hp2 HG03471.hp2 NA19030.hp2 |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0003a0001c0001t0009a0006c0006t0001 | a0001c0001t0003g0169a0001c0001t0009g0218a0006c0006t0001g0123 | 3 | 226 | 0.0133 | 34 | c.217 others(53): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATG10_chr5_81967023_82261133 | 82118402 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0045 | 1 | 226 | 0.0044 | 34 | c.217 others(53): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATG7_chr3_11267397_11562665 | 11497357 | C | CTATATAT others(27): Show |
intron_variant | MODIFIER | HG01358.hp1 HG02080.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0232a0001c0001t0002g0235 | 2 | 292 | 0.0069 | 34 | c.208 others(55): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATL2_chr2_38288954_38382273 | 38329423 | C | CAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0100 | 1 | 236 | 0.0042 | 34 | c.364 others(53): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
ATOSA_chr15_52576321_52684388 | 52679772 | T | TCCTCCTC others(27): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00621.hp2 others(50): Show |
a0001a0002a0008 | a0001c0003a0002c0002a0008c0016 | a0001c0003t0001a0002c0002t0001a0008c0016t0001 | a0001c0003t0001g0001a0001c0003t0001g0007a0001c0003t0001g0008others(43): Show | 53 | 362 | 0.1464 | 34 | c.-10 others(45): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 385 | chr15 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160704914 | C | CTTTTTTT others(27): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0115 | 1 | 236 | 0.0042 | 34 | c.-20 others(55): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 3/25 | chr5 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160823001 | C | CATATATA others(27): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0173 | 1 | 236 | 0.0042 | 34 | c.-57 others(55): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 1/25 | chr5 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112804049 | T | TTCCCTCC others(27): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0135 | 1 | 254 | 0.0039 | 34 | c.163 others(49): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112804050 | T | TCACCTCC others(27): Show |
intron_variant | MODIFIER | HG04204.hp2 NA18962.hp2 |
a0001a0003 | a0001c0005a0003c0007 | a0001c0005t0002a0003c0007t0011 | a0001c0005t0002g0081a0003c0007t0011g0105 | 2 | 254 | 0.0079 | 34 | c.163 others(49): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | chr13 | TogoVar | ||||||
ATP13A5_chr3_193269789_193383753 | 193362813 | C | CTTTCTTT others(27): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0194 | 1 | 284 | 0.0035 | 34 | c.385 others(49): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 3/29 | chr3 | TogoVar | ||||||
ATP1B4_chrX_120357089_120388237 | 120374804 | A | AATATATA others(27): Show |
intron_variant | MODIFIER | HG02258.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0050 | 2 | 353 | 0.0057 | 34 | c.563 others(49): Show |
ATP1B4 | ENSG00000101892.12 | transcript | ENST00000218008.8 | protein_coding | 4/7 | chrX | TogoVar | ||||||
ATP2A3_chr17_3918873_3969437 | 3958823 | C | CACACACA others(27): Show |
intron_variant | MODIFIER | NA18947.hp1 NA18977.hp1 NA19003.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0010 | a0001c0001t0001a0001c0003t0001a0001c0003t0006others(1): Show | a0001c0001t0001g0139a0001c0003t0001g0044a0001c0003t0006g0045others(1): Show | 4 | 332 | 0.0121 | 34 | c.119 others(51): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 1/20 | chr17 | TogoVar | ||||||
ATP2A3_chr17_3918873_3969437 | 3958823 | C | CACACATA others(27): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02717.hp2 |
a0001a0002 | a0001c0003a0002c0024 | a0001c0003t0001a0002c0024t0007 | a0001c0003t0001g0042a0002c0024t0007g0043 | 2 | 332 | 0.0060 | 34 | c.119 others(51): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 1/20 | chr17 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203744827 | T | TACACACA others(27): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 NA18969.hp1 |
a0001 | a0001c0003 | a0001c0003t0021a0001c0003t0025 | a0001c0003t0021g0100a0001c0003t0025g0212 | 2 | 318 | 0.0063 | 34 | c.*49 others(45): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 747 | chr1 | TogoVar | ||||||
ATP2C2_chr16_84363538_84469187 | 84397655 | C | CAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0008 | a0008c0024 | a0008c0024t0001 | a0008c0024t0001g0116 | 1 | 432 | 0.0023 | 34 | c.100 others(49): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |