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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATG16L2_chr11_72809411_72834635 | 72822260 | G | GGCCGAGC others(11): Show |
conservative_inframe_insertion | MODERATE | HG01106.hp1 | a0004 | a0004c0007 | a0004c0007t0002 | a0004c0007t0002g0005 | 1 | 438 | 0.0023 | 18 | c.610 others(25): Show |
p.Ala others(13): Show |
ATG16L2 | ENSG00000168010.11 | transcript | ENST00000321297.10 | protein_coding | 5/18 | 663/2140 | 628/1860 | 210/619 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
ATG2A_chr11_64889546_64922209 | 64920943 | C | CTATATAT others(11): Show |
upstream_gene_variant | MODIFIER | NA18951.hp1 NA18986.hp2 NA19054.hp1 |
a0001a0004a0029 | a0001c0001a0004c0005a0029c0036 | a0001c0001t0001a0004c0005t0001a0029c0036t0001 | a0001c0001t0001g0001 a0004c0005t0001g0135 a0029c0036t0001g0128 |
3 | 7 | 0.4286 | 18 | c.-38 others(29): Show |
ATG2A | ENSG00000110046.14 | transcript | ENST00000377264.8 | protein_coding | 3735 | chr11 | TogoVar | |||||||
ATG2B_chr14_96274195_96368341 | 96295727 | C | CCACACAC others(11): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(57): Show |
a0001a0002a0004others(5): Show | a0001c0002a0001c0005a0001c0022others(8): Show | a0001c0002t0001a0001c0002t0053a0001c0005t0005others(14): Show | a0001c0002t0001g0019 a0001c0002t0001g0252 a0001c0002t0001g0258 others(55): Show |
60 | 114 | 0.5263 | 18 | c.514 others(35): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 34/41 | chr14 | TogoVar | |||||||
ATG4A_chrX_108086778_108159671 | 108115118 | C | CATGTGTG others(11): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01884.hp1 HG02258.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 others(4): Show |
7 | 193 | 0.0363 | 18 | c.11- others(35): Show |
ATG4A | ENSG00000101844.18 | transcript | ENST00000372232.8 | protein_coding | 1/12 | chrX | TogoVar | |||||||
ATG4B_chr2_241632693_241678857 | 241642871 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02132.hp2 NA18957.hp2 NA18975.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0027 a0001c0002t0002g0144 a0001c0002t0002g0156 |
4 | 66 | 0.0606 | 18 | c.10+ others(33): Show |
ATG4B | ENSG00000168397.17 | transcript | ENST00000404914.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
ATG4C_chr1_62779132_62870516 | 62850854 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 199 | 0.0050 | 18 | c.120 others(37): Show |
ATG4C | ENSG00000125703.15 | transcript | ENST00000317868.9 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11268006 | T | TCTCTCTC others(11): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG02738.hp2 |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0047 | a0001c0001t0020g0080 a0001c0001t0047g0105 |
2 | 17 | 0.1176 | 18 | c.-47 others(29): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 4390 | chr3 | TogoVar | |||||||
ATG7_chr3_11267397_11562665 | 11268006 | T | TCTCTCTC others(11): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 16 | 0.0625 | 18 | c.-47 others(29): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 4390 | chr3 | TogoVar | |||||||
ATG7_chr3_11267397_11562665 | 11268006 | T | TCTCTCTC others(11): Show |
upstream_gene_variant | MODIFIER | HG00673.hp1 HG03017.hp2 HG03942.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0003g0129 |
3 | 18 | 0.1667 | 18 | c.-47 others(29): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 4390 | chr3 | TogoVar | |||||||
ATG7_chr3_11267397_11562665 | 11378027 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02717.hp1 HG02976.hp1 |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0007 | a0001c0002t0004g0198 a0001c0002t0007g0182 a0001c0002t0007g0188 |
3 | 18 | 0.1667 | 18 | c.187 others(37): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11378685 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0273 | 1 | 10 | 0.1000 | 18 | c.187 others(37): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11442739 | C | CCAAAAAA others(11): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0087 | 1 | 49 | 0.0204 | 18 | c.207 others(39): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | chr3 | TogoVar | |||||||
ATG7_chr3_11267397_11562665 | 11475868 | G | GACACACA others(11): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00639.hp1 HG02132.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0059 a0001c0001t0001g0137 a0001c0001t0001g0226 others(10): Show |
13 | 55 | 0.2364 | 18 | c.207 others(39): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11478989 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0117 | 1 | 213 | 0.0047 | 18 | c.207 others(39): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11497357 | C | CTATATAT others(11): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01074.hp2 HG03927.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0011a0001c0002t0001 | a0001c0001t0001g0114 a0001c0001t0001g0128 a0001c0001t0001g0132 others(2): Show |
5 | 44 | 0.1136 | 18 | c.208 others(39): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11497357 | C | CTATATAT others(11): Show |
intron_variant | MODIFIER | HG01099.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0170 a0001c0001t0003g0176 |
2 | 41 | 0.0488 | 18 | c.208 others(39): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11497357 | C | CTATATAT others(11): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0255 a0001c0001t0004g0273 |
2 | 41 | 0.0488 | 18 | c.208 others(39): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG9B_chr7_151010151_151029494 | 151016435 | T | TAGAAATG others(11): Show |
conservative_inframe_insertion | MODERATE | NA18956.hp2 | a0026 | a0026c0034 | a0026c0034t0001 | a0026c0034t0001g0103 | 1 | 464 | 0.0022 | 18 | c.251 others(27): Show |
p.His others(30): Show |
ATG9B | ENSG00000181652.20 | transcript | ENST00000639579.2 | protein_coding | 11/14 | 2586/3423 | 2515/2775 | 839/924 | chr7 | TogoVar | |||
ATG9B_chr7_151010151_151029494 | 151027266 | C | CACCACTC others(11): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00642.hp2 others(17): Show |
a0001a0002a0008others(2): Show | a0001c0001a0002c0003a0008c0009others(2): Show | a0001c0001t0001a0002c0003t0001a0008c0009t0002others(2): Show | a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0030 others(7): Show |
20 | 464 | 0.0431 | 18 | c.-28 others(29): Show |
ATG9B | ENSG00000181652.20 | transcript | ENST00000639579.2 | protein_coding | 2773 | chr7 | TogoVar | |||||||
ATL1_chr14_50555145_50638045 | 50574937 | G | GTGTATAT others(11): Show |
intron_variant | MODIFIER | NA18522.hp1 NA18522.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0005 a0001c0004t0001g0035 |
2 | 142 | 0.0141 | 18 | c.35- others(35): Show |
ATL1 | ENSG00000198513.14 | transcript | ENST00000358385.12 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ATL1_chr14_50555145_50638045 | 50574971 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0031 | 1 | 309 | 0.0032 | 18 | c.35- others(35): Show |
ATL1 | ENSG00000198513.14 | transcript | ENST00000358385.12 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ATL2_chr2_38288954_38382273 | 38337486 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0099 | 1 | 28 | 0.0357 | 18 | c.363 others(35): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38346776 | A | ACAGGCCA others(11): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0101 a0001c0001t0002g0105 |
2 | 234 | 0.0085 | 18 | c.119 others(35): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38365134 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0006 | a0006c0009 | a0006c0009t0014 | a0006c0009t0014g0005 | 1 | 186 | 0.0054 | 18 | c.118 others(37): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38365170 | C | CACACACA others(11): Show |
intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0133 | 1 | 219 | 0.0046 | 18 | c.118 others(37): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
ATL3_chr11_63619087_63676376 | 63657208 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0040 | 1 | 196 | 0.0051 | 18 | c.405 others(35): Show |
ATL3 | ENSG00000184743.13 | transcript | ENST00000398868.8 | protein_coding | 3/12 | chr11 | TogoVar | |||||||
ATMIN_chr16_81030842_81052350 | 81046661 | G | GACACACA others(11): Show |
3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG02280.hp1 HG03225.hp1 others(3): Show |
a0001a0003 | a0001c0003a0003c0004a0003c0022 | a0001c0003t0033a0003c0004t0014a0003c0022t0014 | a0001c0003t0033g0015 a0003c0004t0014g0003 a0003c0022t0014g0003 |
6 | 41 | 0.1463 | 18 | c.*17 others(29): Show |
ATMIN | ENSG00000166454.10 | transcript | ENST00000299575.5 | protein_coding | 4/4 | 1722 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ATM_chr11_108218067_108374102 | 108222784 | T | TGAGGAGG others(11): Show |
upstream_gene_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 302 | 0.0033 | 18 | c.-43 others(27): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 282 | chr11 | TogoVar | |||||||
ATM_chr11_108218067_108374102 | 108317615 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG00408.hp2 NA18975.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0071 a0001c0001t0002g0092 |
2 | 90 | 0.0222 | 18 | c.634 others(35): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 43/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ATM_chr11_108218067_108374102 | 108317652 | T | TATATACA others(11): Show |
intron_variant | MODIFIER | HG03453.hp1 NA19043.hp1 |
a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0001 a0004c0004t0004g0183 |
2 | 141 | 0.0142 | 18 | c.634 others(35): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 43/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ATM_chr11_108218067_108374102 | 108318362 | T | TAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02486.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0089 a0001c0001t0002g0090 |
2 | 302 | 0.0066 | 18 | c.634 others(35): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 43/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ATM_chr11_108218067_108374102 | 108374076 | T | TAGGCTCA others(11): Show |
downstream_gene_variant | MODIFIER | NA20752.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0188 | 1 | 302 | 0.0033 | 18 | c.*85 others(29): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 4975 | chr11 | TogoVar | |||||||
ATN1_chr12_6922959_6947321 | 6925117 | C | CGTGTGTG others(11): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 HG02976.hp1 HG03453.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0044 |
6 | 188 | 0.0319 | 18 | c.-34 others(29): Show |
ATN1 | ENSG00000111676.15 | transcript | ENST00000396684.3 | protein_coding | 2841 | chr12 | TogoVar | |||||||
ATN1_chr12_6922959_6947321 | 6936728 | A | ACAGCAGC others(11): Show |
disruptive_inframe_insertion | MODERATE | NA19078.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 122 | 0.0082 | 18 | c.149 others(27): 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 | ||
ATOH1_chr4_93823753_93835964 | 93831405 | C | CCTCTCTC others(11): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(38): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0002a0001c0001t0006a0001c0001t0021others(1): Show | a0001c0001t0002g0000 a0001c0001t0006g0000 a0001c0001t0021g0000 others(1): Show |
41 | 265 | 0.1547 | 18 | c.*14 others(29): Show |
ATOH1 | ENSG00000172238.6 | transcript | ENST00000306011.6 | protein_coding | 442 | chr4 | TogoVar | |||||||
ATOSA_chr15_52576321_52684388 | 52672172 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02258.hp2 HG02486.hp1 others(1): Show |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0001a0006c0006t0004a0006c0006t0010 | a0001c0001t0001g0192 a0006c0006t0004g0186 a0006c0006t0004g0188 others(1): Show |
4 | 140 | 0.0286 | 18 | c.16+ others(33): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 2/12 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25779845 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02630.hp1 |
a0002a0007 | a0002c0002a0007c0070 | a0002c0002t0001a0007c0070t0001 | a0002c0002t0001g0153 a0007c0070t0001g0218 |
2 | 30 | 0.0667 | 18 | c.654 others(35): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25789565 | A | AGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG01074.hp2 others(10): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(7): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(7): Show | a0001c0001t0001g0138 a0001c0001t0001g0219 a0002c0002t0001g0086 others(10): Show |
13 | 133 | 0.0977 | 18 | c.450 others(35): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 1/20 | chr15 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160560289 | G | GGTGTGTG others(11): Show |
downstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0008 | a0001c0008t0019 | a0001c0008t0019g0087 | 1 | 137 | 0.0073 | 18 | c.*51 others(29): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 2830 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160652889 | T | TATATTAT others(11): Show |
intron_variant | MODIFIER | HG03540.hp1 NA18942.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0023 | a0001c0001t0001g0134 a0001c0001t0023g0027 |
2 | 89 | 0.0225 | 18 | c.676 others(35): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160669918 | T | TAAAAAAA others(11): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0009 | a0009c0016 | a0009c0016t0012 | a0009c0016t0012g0164 | 1 | 42 | 0.0238 | 18 | c.675 others(33): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160849618 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG01255.hp1 HG03017.hp2 NA19060.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0004a0002c0003t0005 | a0001c0001t0001g0166 a0001c0001t0004g0165 a0002c0003t0005g0025 |
3 | 38 | 0.0789 | 18 | c.-57 others(37): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 1/25 | chr5 | TogoVar | |||||||
ATP10D_chr4_47480275_47598486 | 47482454 | C | CTCTTCTT others(11): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 HG02886.hp2 HG02895.hp2 others(1): Show |
a0019a0023 | a0019c0021a0023c0030 | a0019c0021t0009a0023c0030t0005 | a0019c0021t0009g0071 a0019c0021t0009g0074 a0019c0021t0009g0076 others(1): Show |
4 | 219 | 0.0183 | 18 | c.-31 others(29): Show |
ATP10D | ENSG00000145246.14 | transcript | ENST00000273859.8 | protein_coding | 2820 | chr4 | TogoVar | |||||||
ATP11A_chr13_112685038_112892168 | 112756801 | C | CCTGCTCC others(11): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0040 | a0001c0040t0001 | a0001c0040t0001g0216 | 1 | 252 | 0.0040 | 18 | c.40- others(35): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112804148 | C | CCCTCCTT others(11): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG01243.hp2 others(15): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0019a0001c0001t0022others(13): Show | a0001c0001t0001g0068 a0001c0001t0001g0105 a0001c0001t0019g0142 others(15): Show |
18 | 237 | 0.0759 | 18 | c.163 others(33): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112804244 | C | CCCTCCTT others(11): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00642.hp1 HG01433.hp2 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0022a0001c0002t0036a0001c0004t0002others(11): Show | a0001c0001t0022g0202 a0001c0002t0036g0042 a0001c0004t0002g0195 others(13): Show |
16 | 238 | 0.0672 | 18 | c.163 others(33): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112804244 | C | CCCTCCTT others(11): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00609.hp2 NA18950.hp2 |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0002t0002a0001c0006t0077 | a0001c0001t0001g0150 a0001c0002t0002g0190 a0001c0006t0077g0159 |
3 | 225 | 0.0133 | 18 | c.163 others(33): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112804244 | C | CCCTCGTT others(11): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 223 | 0.0045 | 18 | c.163 others(33): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112804400 | C | CCCTCCTT others(11): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0021 | a0001c0021t0024 | a0001c0021t0024g0048 | 1 | 251 | 0.0040 | 18 | c.163 others(33): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112811161 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01099.hp2 HG01358.hp1 others(3): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0045others(1): Show | a0001c0001t0001a0001c0001t0023a0001c0002t0007others(2): Show | a0001c0001t0001g0229 a0001c0001t0023g0157 a0001c0001t0023g0158 others(3): Show |
6 | 52 | 0.1154 | 18 | c.441 others(33): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |