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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARPC3_chr12_110429823_110455337 | 110432164 | G | GATAGATC others(39): Show |
downstream_gene_variant | MODIFIER | HG02630.hp1 HG02976.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257a0001c0001t0001g0258a0001c0001t0001g0259 | 3 | 334 | 0.0090 | 46 | c.*29 others(57): Show |
ARPC3 | ENSG00000111229.16 | transcript | ENST00000228825.12 | protein_coding | 2658 | chr12 | TogoVar | ||||||
ARPC3_chr12_110429823_110455337 | 110432164 | G | GATATATC others(39): Show |
downstream_gene_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 334 | 0.0030 | 46 | c.*29 others(57): Show |
ARPC3 | ENSG00000111229.16 | transcript | ENST00000228825.12 | protein_coding | 2658 | chr12 | TogoVar | ||||||
ARPC3_chr12_110429823_110455337 | 110432181 | A | ATCTAGAG others(39): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205a0001c0001t0001g0254 | 2 | 334 | 0.0060 | 46 | c.*29 others(57): Show |
ARPC3 | ENSG00000111229.16 | transcript | ENST00000228825.12 | protein_coding | 2641 | chr12 | TogoVar | ||||||
ARSF_chrX_3036471_3117727 | 3073585 | A | ATATTTAT others(39): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 |
a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0005a0005c0006t0001g0006 | 2 | 193 | 0.0104 | 46 | c.161 others(63): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ASAP1_chr8_130047104_130448674 | 130072790 | G | GGTGTGTG others(39): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0295 | 1 | 308 | 0.0033 | 46 | c.270 others(65): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130072824 | T | TGTGTGTG others(39): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG00642.hp1 others(2): Show |
a0002 | a0002c0002a0002c0011 | a0002c0002t0001a0002c0011t0001 | a0002c0002t0001g0064a0002c0002t0001g0073a0002c0002t0001g0100others(2): Show | 5 | 308 | 0.0162 | 46 | c.270 others(65): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130072824 | T | TGTGTGTG others(39): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0054 | 1 | 308 | 0.0033 | 46 | c.270 others(65): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130072825 | G | GTGTGTGT others(39): Show |
intron_variant | MODIFIER | HG02083.hp1 NA18945.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0070a0002c0002t0001g0081 | 2 | 308 | 0.0065 | 46 | c.270 others(65): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | ||||||
ASB18_chr2_236188459_236269406 | 236202794 | A | AAAAAAAA others(39): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 250 | 0.0040 | 46 | c.110 others(65): Show |
ASB18 | ENSG00000182177.15 | transcript | ENST00000409749.8 | protein_coding | 4/5 | chr2 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100597809 | G | GAAAAAAA others(39): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0058 | 1 | 314 | 0.0032 | 46 | c.530 others(65): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 34/41 | chr6 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100608714 | T | TTTATACT others(39): Show |
intron_variant | MODIFIER | NA18941.hp1 NA18966.hp1 |
a0002a0004 | a0002c0003a0004c0008 | a0002c0003t0002a0004c0008t0003 | a0002c0003t0002g0067a0004c0008t0003g0057 | 2 | 314 | 0.0064 | 46 | c.478 others(65): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 30/41 | chr6 | TogoVar | ||||||
ASIP_chr20_34236423_34274344 | 34258688 | T | TATATATA others(39): Show |
intron_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 306 | 0.0033 | 46 | c.-10 others(63): Show |
ASIP | ENSG00000101440.10 | transcript | ENST00000374954.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ASMTL_chrX_1398139_1457909 | 1405183 | G | GATGGTAG others(39): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00733.hp1 others(11): Show |
a0000a0001a0002others(1): Show | a0000c0007a0000c0030a0000c0039others(4): Show | a0000c0007t0001a0000c0030t0001a0000c0039t0001others(4): Show | a0000c0007t0001g0033a0000c0007t0001g0034a0000c0007t0001g0043others(11): Show | 14 | 185 | 0.0757 | 46 | c.164 others(65): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 12/12 | chrX | TogoVar | ||||||
ASPSCR1_chr17_81972629_82022406 | 82021172 | C | CTAAGATG others(39): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 366 | 0.0027 | 46 | c.*38 others(57): Show |
ASPSCR1 | ENSG00000169696.16 | transcript | ENST00000306739.9 | protein_coding | 3767 | chr17 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116632194 | G | GAGAGAGA others(39): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0065 | 1 | 102 | 0.0098 | 46 | c.307 others(67): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 17/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117003530 | G | GGTGTGTG others(39): Show |
intron_variant | MODIFIER | HG02559.hp2 NA18906.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0006 | a0001c0001t0002g0070a0001c0003t0006g0017 | 2 | 102 | 0.0196 | 46 | c.159 others(65): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 7/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117016612 | A | ATGTTACA others(39): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0098 | 1 | 102 | 0.0098 | 46 | c.142 others(65): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 6/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117048963 | C | CTTTTTTT others(39): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0057 | 1 | 102 | 0.0098 | 46 | c.127 others(65): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 5/22 | chr9 | TogoVar | ||||||
ASXL3_chr18_33573219_33756195 | 33601785 | G | GTATATAT others(39): Show |
intron_variant | MODIFIER | HG02602.hp1 HG03239.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0002c0002t0003 | a0001c0001t0006g0217a0002c0002t0003g0136 | 2 | 220 | 0.0091 | 46 | c.55- others(61): 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(39): Show |
intron_variant | MODIFIER | HG02486.hp2 NA18999.hp2 NA20300.hp2 |
a0001a0002a0014 | a0001c0005a0002c0002a0014c0019 | a0001c0005t0056a0002c0002t0005a0014c0019t0058 | a0001c0005t0056g0063a0002c0002t0005g0121a0014c0019t0058g0002 | 3 | 220 | 0.0136 | 46 | c.55- others(61): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATAD1_chr10_87746512_87823226 | 87798625 | G | GGTGTGTG others(39): Show |
intron_variant | MODIFIER | HG02083.hp1 NA19079.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0073a0001c0001t0003g0091 | 2 | 360 | 0.0056 | 46 | c.163 others(63): Show |
ATAD1 | ENSG00000138138.14 | transcript | ENST00000680024.1 | protein_coding | 2/9 | chr10 | TogoVar | ||||||
ATAD2B_chr2_23743664_23932123 | 23745422 | A | AAGGAAGG others(39): Show |
downstream_gene_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0132 | 1 | 246 | 0.0041 | 46 | c.*66 others(57): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 3241 | chr2 | TogoVar | ||||||
ATAD2B_chr2_23743664_23932123 | 23878025 | A | AAAAAAAA others(39): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0076 | 1 | 246 | 0.0041 | 46 | c.902 others(63): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 7/27 | chr2 | TogoVar | ||||||
ATAD2_chr8_123314850_123401447 | 123377091 | C | CAAAAAAA others(39): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0142 | 1 | 278 | 0.0036 | 46 | c.320 others(63): Show |
ATAD2 | ENSG00000156802.13 | transcript | ENST00000287394.10 | protein_coding | 2/27 | chr8 | TogoVar | ||||||
ATF1_chr12_50759101_50826162 | 50823528 | T | TTATATAT others(39): Show |
downstream_gene_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0092 | 1 | 382 | 0.0026 | 46 | c.*37 others(57): Show |
ATF1 | ENSG00000123268.9 | transcript | ENST00000262053.8 | protein_coding | 2367 | chr12 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 81993359 | C | CTTTCTTT others(39): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157a0001c0001t0001g0158 | 2 | 226 | 0.0089 | 46 | c.108 others(63): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 2/7 | chr5 | TogoVar | ||||||
ATG12_chr5_115823200_115846565 | 115846128 | T | TCCCCCCC others(39): Show |
upstream_gene_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0014 | 1 | 402 | 0.0025 | 46 | c.-45 others(57): Show |
ATG12 | ENSG00000145782.13 | transcript | ENST00000509910.2 | protein_coding | 4564 | chr5 | TogoVar | ||||||
ATL2_chr2_38288954_38382273 | 38289349 | T | TCAAAAGC others(39): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0057 | 1 | 236 | 0.0042 | 46 | c.*66 others(57): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 4604 | chr2 | TogoVar | ||||||
ATL2_chr2_38288954_38382273 | 38337486 | C | CAAAAAAA others(39): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0076 | 1 | 236 | 0.0042 | 46 | c.363 others(63): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160653483 | A | ACATATAT others(39): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 236 | 0.0042 | 46 | c.676 others(63): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112804042 | T | TCCCCTCC others(39): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0070 | 1 | 254 | 0.0039 | 46 | c.163 others(61): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP13A4_chr3_193393967_193559895 | 193531340 | G | GAAAGGAA others(39): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02155.hp1 HG02572.hp1 others(5): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0002t0024a0002c0003t0001others(1): Show | a0002c0002t0001g0129a0002c0002t0001g0130a0002c0002t0024g0127others(5): Show | 8 | 302 | 0.0265 | 46 | c.61- others(63): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 1/29 | chr3 | TogoVar | ||||||
ATP2A3_chr17_3918873_3969437 | 3958773 | T | TACACATA others(39): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0105 | 1 | 332 | 0.0030 | 46 | c.119 others(63): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 1/20 | chr17 | TogoVar | ||||||
ATP2B3_chrX_153512642_153587929 | 153584581 | A | AAGGAGGA others(39): Show |
downstream_gene_variant | MODIFIER | NA18985.hp1 | a0005 | a0005c0012 | a0005c0012t0044 | a0005c0012t0044g0224 | 1 | 267 | 0.0038 | 46 | c.*42 others(57): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 1653 | chrX | TogoVar | ||||||
ATP4B_chr13_113643804_113663198 | 113653218 | T | TGCTTCAC others(39): Show |
intron_variant | MODIFIER | NA18957.hp1 NA18980.hp1 NA19064.hp2 |
a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0046a0002c0006t0002g0130 | 3 | 456 | 0.0066 | 46 | c.355 others(60): Show |
ATP4B | ENSG00000186009.5 | transcript | ENST00000335288.5 | protein_coding | 3/6 | chr13 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138718677 | G | GGGGTGCA others(39): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00639.hp2 HG00673.hp1 others(40): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0007others(11): Show | a0001c0001t0001a0001c0001t0007a0001c0005t0001others(13): Show | a0001c0001t0001g0071a0001c0001t0001g0090a0001c0001t0001g0121others(40): Show | 43 | 376 | 0.1144 | 46 | c.214 others(65): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 19/21 | chr7 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138737115 | A | AATATATA others(39): Show |
intron_variant | MODIFIER | HG02897.hp1 NA18942.hp2 NA18957.hp1 others(1): Show |
a0002a0004a0005 | a0002c0003a0004c0015a0005c0006 | a0002c0003t0001a0004c0015t0001a0005c0006t0001 | a0002c0003t0001g0190a0002c0003t0001g0316a0004c0015t0001g0358others(1): Show | 4 | 376 | 0.0106 | 46 | c.157 others(65): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 15/21 | chr7 | TogoVar | ||||||
ATP6V1D_chr14_67332872_67364804 | 67359910 | C | CAGGCGCG others(39): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 348 | 0.0029 | 46 | c.-21 others(55): Show |
ATP6V1D | ENSG00000100554.12 | transcript | ENST00000216442.12 | protein_coding | 107 | chr14 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25528724 | A | ATATGCAT others(39): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00741.hp1 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011a0001c0001t0013 | a0001c0001t0001g0036a0001c0001t0011g0061a0001c0001t0013g0005 | 3 | 122 | 0.0246 | 46 | c.222 others(63): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25528743 | T | TTGTGTAT others(39): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02886.hp1 HG03130.hp2 |
a0001 | a0001c0003a0001c0007 | a0001c0003t0062a0001c0007t0001a0001c0007t0005 | a0001c0003t0062g0024a0001c0007t0001g0081a0001c0007t0005g0021 | 3 | 122 | 0.0246 | 46 | c.222 others(63): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79071399 | C | CTTTTTTT others(39): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 298 | 0.0034 | 46 | c.119 others(63): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79356958 | A | ATGCTCTG others(39): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03453.hp2 |
a0008a0013 | a0008c0030a0013c0023 | a0008c0030t0001a0013c0023t0001 | a0008c0030t0001g0254a0013c0023t0001g0042 | 2 | 298 | 0.0067 | 46 | c.290 others(65): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79356958 | A | ATGCTCTG others(39): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 298 | 0.0034 | 46 | c.290 others(65): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79356990 | G | GTGTCCTG others(39): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG01891.hp2 others(8): Show |
a0001a0002a0005 | a0001c0001a0002c0005a0002c0032others(1): Show | a0001c0001t0001a0002c0005t0001a0002c0032t0005others(1): Show | a0001c0001t0001g0006a0001c0001t0001g0013a0001c0001t0001g0014others(8): Show | 11 | 298 | 0.0369 | 46 | c.290 others(65): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79357036 | G | GTGCTCTG others(39): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02886.hp1 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0001 | a0001c0001t0001g0090a0002c0005t0001g0193 | 2 | 298 | 0.0067 | 46 | c.290 others(65): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79357180 | T | TCTGTGTG others(39): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 298 | 0.0034 | 46 | c.290 others(65): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79357214 | C | CGTGTGAG others(39): Show |
intron_variant | MODIFIER | HG02155.hp2 NA18960.hp2 NA18980.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0013a0001c0001t0001g0014 | 3 | 298 | 0.0101 | 46 | c.290 others(65): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79357274 | C | CCTGGGTC others(39): Show |
intron_variant | MODIFIER | NA18980.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0257 | 1 | 298 | 0.0034 | 46 | c.290 others(65): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79357292 | C | CGTGTGAG others(39): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0194 | 1 | 298 | 0.0034 | 46 | c.290 others(65): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79357292 | C | CGTGTGAG others(39): Show |
intron_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 298 | 0.0034 | 46 | c.290 others(65): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar |