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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATAD1_chr10_87746512_87823226 | 87819263 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG01069.hp2 HG01257.hp1 HG01258.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0048a0001c0001t0003g0050a0001c0001t0003g0053others(5): Show | 8 | 360 | 0.0222 | 9 | c.-11 others(20): Show |
ATAD1 | ENSG00000138138.14 | transcript | ENST00000680024.1 | protein_coding | 1038 | chr10 | TogoVar | ||||||
ATAD2B_chr2_23743664_23932123 | 23745417 | G | GAAGAAAG others(2): Show |
downstream_gene_variant | MODIFIER | NA18949.hp2 NA18980.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0112a0001c0001t0004g0121 | 2 | 246 | 0.0081 | 9 | c.*66 others(20): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 3246 | chr2 | TogoVar | ||||||
ATAD2_chr8_123314850_123401447 | 123377091 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01099.hp1 HG01168.hp2 others(5): Show |
a0001a0003a0005 | a0001c0001a0001c0016a0003c0011others(1): Show | a0001c0001t0001a0001c0016t0001a0003c0011t0001others(1): Show | a0001c0001t0001g0220a0001c0001t0001g0222a0001c0001t0001g0225others(5): Show | 8 | 278 | 0.0288 | 9 | c.320 others(26): Show |
ATAD2 | ENSG00000156802.13 | transcript | ENST00000287394.10 | protein_coding | 2/27 | chr8 | TogoVar | ||||||
ATAD3C_chr1_1444689_1475163 | 1469099 | T | TAAAAAAA others(2): Show |
3_prime_UTR_variant | MODIFIER | HG00558.hp1 HG03486.hp1 HG03942.hp1 others(7): Show |
a0001a0002 | a0001c0004a0001c0005a0001c0034others(1): Show | a0001c0004t0037a0001c0004t0054a0001c0004t0105others(5): Show | a0001c0004t0037g0057a0001c0004t0037g0058a0001c0004t0054g0004others(7): Show | 10 | 410 | 0.0244 | 9 | c.*59 others(18): Show |
ATAD3C | ENSG00000215915.10 | transcript | ENST00000378785.7 | protein_coding | 12/12 | 607 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
ATAD5_chr17_30826966_30900869 | 30827140 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 HG02109.hp1 HG02647.hp1 others(8): Show |
a0003a0005a0007 | a0003c0003a0005c0005a0007c0008 | a0003c0003t0001a0003c0003t0004a0005c0005t0001others(1): Show | a0003c0003t0001g0107a0003c0003t0004g0062a0003c0003t0004g0093others(8): Show | 11 | 286 | 0.0385 | 9 | c.-52 others(20): Show |
ATAD5 | ENSG00000176208.9 | transcript | ENST00000321990.5 | protein_coding | 4825 | chr17 | TogoVar | ||||||
ATCAY_chr19_3875685_3933082 | 3914235 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00609.hp1 others(38): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0101a0001c0001t0001g0152a0001c0001t0001g0166others(38): Show | 41 | 384 | 0.1068 | 9 | c.965 others(24): Show |
ATCAY | ENSG00000167654.18 | transcript | ENST00000450849.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ATE1_chr10_121735424_121933031 | 121770233 | A | ACACACAC others(2): Show |
intron_variant | MODIFIER | HG02155.hp1 HG02155.hp2 NA18988.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0182a0001c0001t0001g0249a0001c0001t0002g0146 | 3 | 320 | 0.0094 | 9 | c.137 others(30): Show |
ATE1 | ENSG00000107669.19 | transcript | ENST00000224652.12 | protein_coding | 11/11 | chr10 | TogoVar | ||||||
ATF6_chr1_161761320_161969070 | 161790809 | T | TCAACAAC others(2): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03139.hp1 HG03195.hp1 |
a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0004a0004c0007t0001g0315 | 3 | 332 | 0.0090 | 9 | c.355 others(24): Show |
ATF6 | ENSG00000118217.7 | transcript | ENST00000367942.4 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATF6_chr1_161761320_161969070 | 161829189 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG00733.hp1 others(22): Show |
a0002a0005a0006 | a0002c0003a0005c0011a0006c0012 | a0002c0003t0002a0002c0003t0004a0002c0003t0052others(3): Show | a0002c0003t0002g0242a0002c0003t0002g0249a0002c0003t0002g0250others(22): Show | 25 | 332 | 0.0753 | 9 | c.118 others(28): Show |
ATF6 | ENSG00000118217.7 | transcript | ENST00000367942.4 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATF7IP_chr12_14360682_14507930 | 14405165 | G | GTAGTAGA others(2): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01515.hp1 HG01517.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0298a0002c0002t0001g0299a0002c0002t0001g0307others(2): Show | 5 | 346 | 0.0145 | 9 | c.-7- others(26): Show |
ATF7IP | ENSG00000171681.13 | transcript | ENST00000261168.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATF7_chr12_53507054_53631382 | 53542107 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02055.hp2 HG02976.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0029a0001c0001t0001g0043a0001c0001t0001g0048others(3): Show | 6 | 330 | 0.0182 | 9 | c.264 others(26): Show |
ATF7 | ENSG00000170653.19 | transcript | ENST00000420353.7 | protein_coding | 4/11 | chr12 | TogoVar | ||||||
ATF7_chr12_53507054_53631382 | 53587844 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG02080.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0026 | a0001c0001t0001g0237a0001c0001t0001g0241a0001c0001t0001g0250others(9): Show | 12 | 330 | 0.0364 | 9 | c.48+ others(26): Show |
ATF7 | ENSG00000170653.19 | transcript | ENST00000420353.7 | protein_coding | 2/11 | chr12 | TogoVar | ||||||
ATG101_chr12_52064978_52082495 | 52068990 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 HG01109.hp2 HG01256.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012a0001c0001t0015 | a0001c0001t0002g0002a0001c0001t0012g0025a0001c0001t0015g0044 | 19 | 394 | 0.0482 | 9 | c.-14 others(20): Show |
ATG101 | ENSG00000123395.15 | transcript | ENST00000336854.9 | protein_coding | 987 | chr12 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 81993360 | C | CTTCTTTC others(2): Show |
intron_variant | MODIFIER | HG02015.hp1 HG03486.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0009a0002c0002t0008 | a0001c0001t0009g0150a0002c0002t0008g0119 | 2 | 226 | 0.0089 | 9 | c.108 others(26): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATG12_chr5_115823200_115846565 | 115839322 | T | TGCATGCA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(153): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0010a0001c0001t0001g0024a0001c0001t0001g0045others(60): Show | 156 | 402 | 0.3881 | 9 | c.164 others(26): Show |
ATG12 | ENSG00000145782.13 | transcript | ENST00000509910.2 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
ATG13_chr11_46612553_46679518 | 46619372 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01515.hp2 HG02559.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0044a0001c0001t0002g0045a0001c0001t0002g0046others(7): Show | 10 | 218 | 0.0459 | 9 | c.-70 others(26): Show |
ATG13 | ENSG00000175224.17 | transcript | ENST00000683050.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ATG14_chr14_55361391_55416830 | 55380876 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01109.hp2 HG01496.hp2 others(21): Show |
a0001a0003a0004 | a0001c0001a0003c0005a0004c0006 | a0001c0001t0003a0001c0001t0024a0001c0001t0025others(2): Show | a0001c0001t0003g0015a0001c0001t0003g0113a0001c0001t0003g0121others(20): Show | 24 | 366 | 0.0656 | 9 | c.878 others(24): Show |
ATG14 | ENSG00000126775.9 | transcript | ENST00000247178.6 | protein_coding | 6/9 | chr14 | TogoVar | ||||||
ATG14_chr14_55361391_55416830 | 55402926 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG02572.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0002t0002 | a0001c0001t0001g0231a0001c0001t0001g0324a0001c0001t0007g0106others(1): Show | 4 | 366 | 0.0109 | 9 | c.222 others(26): Show |
ATG14 | ENSG00000126775.9 | transcript | ENST00000247178.6 | protein_coding | 1/9 | chr14 | TogoVar | ||||||
ATG2A_chr11_64889546_64922209 | 64904816 | T | TTATTTTA others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01069.hp2 HG01099.hp1 others(19): Show |
a0001a0003a0012 | a0001c0001a0001c0002a0001c0020others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0020t0001others(3): Show | a0001c0001t0001g0027a0001c0001t0001g0153a0001c0001t0001g0157others(12): Show | 22 | 372 | 0.0591 | 9 | c.346 others(26): Show |
ATG2A | ENSG00000110046.14 | transcript | ENST00000377264.8 | protein_coding | 24/40 | chr11 | TogoVar | ||||||
ATG2B_chr14_96274195_96368341 | 96308283 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01256.hp2 others(6): Show |
a0002a0012 | a0002c0001a0012c0020 | a0002c0001t0006a0012c0020t0006 | a0002c0001t0006g0113a0002c0001t0006g0162a0002c0001t0006g0164others(6): Show | 9 | 356 | 0.0253 | 9 | c.430 others(28): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 29/41 | chr14 | TogoVar | ||||||
ATG4B_chr2_241632693_241678857 | 241642871 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01169.hp1 HG01433.hp2 HG02080.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0004a0001c0001t0006a0001c0001t0012others(3): Show | a0001c0001t0004g0149a0001c0001t0004g0150a0001c0001t0004g0151others(9): Show | 12 | 410 | 0.0293 | 9 | c.10+ others(24): Show |
ATG4B | ENSG00000168397.17 | transcript | ENST00000404914.8 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
ATG4D_chr19_10538904_10558418 | 10548003 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02135.hp1 HG03492.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021a0001c0001t0001g0032a0001c0001t0001g0079others(3): Show | 9 | 406 | 0.0222 | 9 | c.835 others(24): Show |
ATG4D | ENSG00000130734.10 | transcript | ENST00000309469.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ATG7_chr3_11267397_11562665 | 11411619 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00738.hp2 HG01169.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0033a0001c0001t0001g0041a0001c0001t0001g0067others(13): Show | 16 | 292 | 0.0548 | 9 | c.195 others(30): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATG7_chr3_11267397_11562665 | 11440674 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01358.hp1 HG01943.hp2 HG01978.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(1): Show | a0001c0001t0001g0208a0001c0001t0001g0209a0001c0001t0001g0227others(8): Show | 11 | 292 | 0.0377 | 9 | c.207 others(30): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATG7_chr3_11267397_11562665 | 11442739 | C | CCAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02155.hp2 HG02922.hp1 HG03017.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0029others(3): Show | 6 | 292 | 0.0206 | 9 | c.207 others(30): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11513767 | A | AGCGAGGG others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00733.hp2 HG00738.hp2 others(8): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0002t0001a0003c0005t0001 | a0001c0001t0001g0015a0001c0001t0001g0062a0001c0001t0001g0076others(8): Show | 11 | 292 | 0.0377 | 9 | c.208 others(30): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATL1_chr14_50555145_50638045 | 50597220 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01261.hp2 HG01496.hp2 others(6): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0061a0001c0003t0001g0062a0001c0003t0001g0137others(6): Show | 9 | 320 | 0.0281 | 9 | c.630 others(26): Show |
ATL1 | ENSG00000198513.14 | transcript | ENST00000358385.12 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ATL1_chr14_50555145_50638045 | 50605292 | T | TGATTCAT others(2): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02258.hp1 HG02572.hp2 others(9): Show |
a0001 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0001a0001c0004t0001a0001c0006t0001others(1): Show | a0001c0001t0001g0020a0001c0004t0001g0024a0001c0004t0001g0025others(9): Show | 12 | 320 | 0.0375 | 9 | c.631 others(26): Show |
ATL1 | ENSG00000198513.14 | transcript | ENST00000358385.12 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ATL2_chr2_38288954_38382273 | 38291195 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG01884.hp2 others(8): Show |
a0001a0003 | a0001c0003a0003c0004 | a0001c0003t0023a0001c0003t0036a0003c0004t0003others(2): Show | a0001c0003t0023g0018a0001c0003t0036g0044a0003c0004t0003g0036others(8): Show | 11 | 236 | 0.0466 | 9 | c.*47 others(20): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2758 | chr2 | TogoVar | ||||||
ATN1_chr12_6922959_6947321 | 6936728 | A | ACAGCAGC others(2): Show |
disruptive_inframe_insertion | MODERATE | HG00558.hp1 HG00597.hp2 HG00673.hp1 others(27): Show |
a0007a0018a0020 | a0007c0006a0007c0021a0007c0037others(3): Show | a0007c0006t0001a0007c0006t0003a0007c0021t0001others(4): Show | a0007c0006t0001g0002a0007c0006t0001g0004a0007c0006t0001g0008others(16): Show | 30 | 414 | 0.0725 | 9 | c.150 others(18): Show |
p.Gln others(13): Show |
ATN1 | ENSG00000111676.15 | transcript | ENST00000396684.3 | protein_coding | 5/10 | 2097/4702 | 1509/3573 | 503/1190 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |
ATOSA_chr15_52576321_52684388 | 52672172 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(75): Show |
a0002a0003a0005others(3): Show | a0002c0002a0002c0007a0002c0012others(7): Show | a0002c0002t0001a0002c0002t0006a0002c0007t0001others(9): Show | a0002c0002t0001g0015a0002c0002t0001g0016a0002c0002t0001g0173others(73): Show | 78 | 362 | 0.2155 | 9 | c.16+ others(24): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 2/12 | chr15 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25732558 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(189): Show |
a0001a0002a0003others(35): Show | a0001c0001a0001c0014a0001c0019others(52): Show | a0001c0001t0001a0001c0001t0002a0001c0014t0001others(60): Show | a0001c0001t0001g0015a0001c0001t0001g0039a0001c0001t0001g0047others(189): Show | 192 | 300 | 0.6400 | 9 | c.740 others(26): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 3/20 | chr15 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25802826 | T | TGAGAAGC others(2): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02896.hp2 HG02897.hp1 others(3): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0076a0006c0007others(1): Show | a0001c0001t0001a0002c0076t0001a0006c0007t0001others(1): Show | a0001c0001t0001g0245a0001c0001t0001g0261a0001c0001t0001g0263others(3): Show | 6 | 300 | 0.0200 | 9 | c.450 others(28): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 1/20 | chr15 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160643032 | G | GCTGGAGA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(159): Show |
a0001a0002a0004others(8): Show | a0001c0001a0001c0002a0001c0005others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0017a0001c0001t0001g0019a0001c0001t0001g0038others(159): Show | 162 | 236 | 0.6864 | 9 | c.868 others(26): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 9/25 | chr5 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160653501 | C | CATATATA others(2): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01255.hp2 HG02698.hp1 others(5): Show |
a0001a0017a0018 | a0001c0001a0001c0002a0017c0027others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0118a0001c0001t0003g0044a0001c0001t0003g0045others(5): Show | 8 | 236 | 0.0339 | 9 | c.676 others(26): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160653675 | T | TATATAGT others(2): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02717.hp2 NA18906.hp2 others(1): Show |
a0001 | a0001c0008a0001c0029 | a0001c0008t0019a0001c0008t0037a0001c0029t0047 | a0001c0008t0019g0030a0001c0008t0019g0087a0001c0008t0037g0023others(1): Show | 4 | 236 | 0.0170 | 9 | c.676 others(26): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160653684 | A | AAATATAT others(2): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02717.hp2 NA18906.hp2 others(1): Show |
a0001 | a0001c0008a0001c0029 | a0001c0008t0019a0001c0008t0037a0001c0029t0047 | a0001c0008t0019g0030a0001c0008t0019g0087a0001c0008t0037g0023others(1): Show | 4 | 236 | 0.0170 | 9 | c.676 others(26): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160693403 | A | ACACACAC others(2): Show |
intron_variant | MODIFIER | HG01934.hp2 HG03540.hp2 NA19007.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0007a0001c0002t0011 | a0001c0001t0002g0130a0001c0002t0007g0131a0001c0002t0011g0226 | 3 | 236 | 0.0127 | 9 | c.-20 others(28): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 3/25 | chr5 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160704914 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02976.hp1 HG02976.hp2 others(2): Show |
a0001a0008a0011 | a0001c0001a0001c0008a0001c0011others(2): Show | a0001c0001t0001a0001c0008t0019a0001c0011t0025others(2): Show | a0001c0001t0001g0228a0001c0008t0019g0087a0001c0011t0025g0028others(2): Show | 5 | 236 | 0.0212 | 9 | c.-20 others(30): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 3/25 | chr5 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160796831 | G | GGGGAGGA others(2): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02809.hp1 HG02965.hp2 others(1): Show |
a0001a0011a0013 | a0001c0001a0001c0011a0011c0019others(1): Show | a0001c0001t0008a0001c0011t0041a0011c0019t0048others(1): Show | a0001c0001t0008g0168a0001c0011t0041g0001a0011c0019t0048g0113others(1): Show | 4 | 236 | 0.0170 | 9 | c.-57 others(30): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 1/25 | chr5 | TogoVar | ||||||
ATP10D_chr4_47480275_47598486 | 47482454 | C | CTCTTCTT others(2): Show |
upstream_gene_variant | MODIFIER | HG01123.hp1 HG01884.hp2 HG02922.hp1 others(2): Show |
a0002a0003a0009others(1): Show | a0002c0008a0003c0004a0009c0011others(1): Show | a0002c0008t0001a0003c0004t0005a0009c0011t0001others(1): Show | a0002c0008t0001g0149a0003c0004t0005g0210a0003c0004t0005g0211others(2): Show | 5 | 332 | 0.0151 | 9 | c.-31 others(20): Show |
ATP10D | ENSG00000145246.14 | transcript | ENST00000273859.8 | protein_coding | 2820 | chr4 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112724102 | A | ATCGCCCC others(2): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03098.hp2 HG03130.hp1 |
a0001 | a0001c0004a0001c0019a0001c0042 | a0001c0004t0003a0001c0019t0015a0001c0042t0044 | a0001c0004t0003g0149a0001c0019t0015g0147a0001c0042t0044g0148 | 3 | 254 | 0.0118 | 9 | c.39+ others(26): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112803881 | T | TCCCTCAT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00438.hp1 others(37): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(11): Show | a0001c0001t0002a0001c0001t0019a0001c0001t0054others(22): Show | a0001c0001t0002g0050a0001c0001t0019g0142a0001c0001t0054g0008others(37): Show | 40 | 254 | 0.1575 | 9 | c.163 others(26): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112804147 | G | GCCCTCCT others(2): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02004.hp1 HG02273.hp2 others(8): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0019others(6): Show | a0001c0001t0001g0210a0001c0001t0001g0229a0001c0001t0001g0230others(8): Show | 11 | 254 | 0.0433 | 9 | c.163 others(24): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112804147 | G | GCCCTCGT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(28): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(12): Show | a0001c0001t0021a0001c0002t0001a0001c0002t0003others(23): Show | a0001c0001t0021g0240a0001c0002t0001g0032a0001c0002t0003g0198others(28): Show | 31 | 254 | 0.1221 | 9 | c.163 others(24): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112804201 | C | CCCTCCTT others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00738.hp2 HG01169.hp2 others(23): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0021a0001c0001t0066others(19): Show | a0001c0001t0001g0108a0001c0001t0001g0120a0001c0001t0021g0240others(23): Show | 26 | 254 | 0.1024 | 9 | c.163 others(24): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112804201 | C | CCTTCCTT others(2): Show |
intron_variant | MODIFIER | HG00733.hp2 HG00738.hp1 HG01106.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0007 | a0001c0001t0001a0001c0001t0010a0002c0003t0001others(1): Show | a0001c0001t0001g0015a0001c0001t0001g0181a0001c0001t0001g0193others(3): Show | 6 | 254 | 0.0236 | 9 | c.163 others(24): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112804243 | G | GCCCTCCT others(2): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01106.hp1 HG02004.hp1 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0010a0001c0002t0030others(8): Show | a0001c0001t0001g0071a0001c0001t0001g0193a0001c0001t0001g0229others(13): Show | 16 | 254 | 0.0630 | 9 | c.163 others(24): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112804243 | G | GCCCTCGT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00544.hp1 others(38): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(15): Show | a0001c0001t0002a0001c0001t0021a0001c0001t0026others(30): Show | a0001c0001t0002g0206a0001c0001t0021g0240a0001c0001t0026g0227others(38): Show | 41 | 254 | 0.1614 | 9 | c.163 others(24): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112804357 | C | CCCTCCTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00609.hp2 HG00642.hp1 others(13): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0021others(11): Show | a0001c0001t0001g0015a0001c0001t0001g0150a0001c0001t0001g0210others(13): Show | 16 | 254 | 0.0630 | 9 | c.163 others(24): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |