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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(2708): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0263 | 1 | 362 | 0.0028 | 2715 | c.192 others(2734): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | ||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(2708): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00673.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0169a0002c0002t0001g0194 | 2 | 362 | 0.0055 | 2715 | c.192 others(2734): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | ||||||
SLC35F3_chr1_233899676_234329511 | 234207442 | T | TCCTTCTT others(2708): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0115 | 1 | 158 | 0.0063 | 2715 | c.284 others(2734): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
USP47_chr11_11836972_11966887 | 11926961 | T | TCAAGAGT others(2708): Show |
intron_variant | MODIFIER | HG00621.hp1 NA18967.hp2 NA19004.hp2 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0302a0002c0003t0002g0310a0002c0003t0002g0312others(1): Show | 4 | 386 | 0.0104 | 2715 | c.138 others(2734): Show |
USP47 | ENSG00000170242.19 | transcript | ENST00000527733.7 | protein_coding | 11/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ZNF853_chr7_6610610_6629290 | 6625120 | T | TCATTTCT others(2708): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 HG01168.hp2 HG01169.hp1 others(1): Show |
a0001 | a0001c0009 | a0001c0009t0004a0001c0009t0013 | a0001c0009t0004g0019a0001c0009t0013g0033 | 4 | 422 | 0.0095 | 2715 | c.*21 others(2726): Show |
ZNF853 | ENSG00000236609.4 | transcript | ENST00000457543.4 | protein_coding | 831 | chr7 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 344505 | T | TGTGTGTG others(2709): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02809.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0007 | a0002c0002t0001g0257a0002c0002t0007g0028 | 2 | 268 | 0.0075 | 2716 | c.62+ others(2729): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 344505 | T | TGTGTGTG others(2709): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0187 | 1 | 268 | 0.0037 | 2716 | c.62+ others(2729): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 344505 | T | TGTGTGTG others(2709): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0162 | 1 | 268 | 0.0037 | 2716 | c.62+ others(2729): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 344505 | T | TGTGTGTG others(2709): Show |
intron_variant | MODIFIER | HG01106.hp1 HG03017.hp2 |
a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0120a0002c0002t0006g0144 | 2 | 268 | 0.0075 | 2716 | c.62+ others(2729): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATP10A_chr15_25673712_25868327 | 25758516 | T | TCACCTGC others(2709): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0074 | 1 | 300 | 0.0033 | 2716 | c.655 others(2735): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364373 | C | CCACGCTT others(2709): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0002 | a0001c0002t0020 | a0001c0002t0020g0213 | 1 | 290 | 0.0035 | 2716 | c.129 others(2735): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MORN1_chr1_2316253_2396554 | 2325140 | C | CTCCCTCC others(2709): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 80 | 0.0125 | 2716 | c.125 others(2733): Show |
MORN1 | ENSG00000116151.14 | transcript | ENST00000378531.8 | protein_coding | 12/13 | chr1 | TogoVar | ||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(2709): Show |
intron_variant | MODIFIER | HG03491.hp1 HG03492.hp1 HG03492.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0068a0002c0002t0001g0069a0002c0002t0001g0310 | 3 | 362 | 0.0083 | 2716 | c.192 others(2735): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | ||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(2709): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02074.hp1 HG02083.hp1 others(7): Show |
a0001a0016 | a0001c0001a0001c0017a0001c0023others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0013others(3): Show | a0001c0001t0002g0058a0001c0001t0003g0027a0001c0001t0003g0161others(7): Show | 10 | 362 | 0.0276 | 2716 | c.192 others(2735): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | ||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(2709): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0341 | 1 | 362 | 0.0028 | 2716 | c.192 others(2735): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | ||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(2709): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0056 | 1 | 362 | 0.0028 | 2716 | c.192 others(2735): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | ||||||
SV2C_chr5_76078383_76338956 | 76191190 | C | CTACACAC others(2709): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0065 | a0001c0001t0065g0233 | 1 | 234 | 0.0043 | 2716 | c.581 others(2733): Show |
SV2C | ENSG00000122012.14 | transcript | ENST00000502798.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ZNF229_chr19_44421254_44453472 | 44449685 | T | TGAAAGGT others(2709): Show |
upstream_gene_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0006 | 1 | 433 | 0.0023 | 2716 | c.-16 others(2727): Show |
ZNF229 | ENSG00000278318.5 | transcript | ENST00000614049.5 | protein_coding | 1214 | chr19 | TogoVar | ||||||
EML5_chr14_88607431_88797953 | 88684236 | A | ATAAATTT others(2710): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0212 | 1 | 332 | 0.0030 | 2717 | c.298 others(2734): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 20/43 | chr14 | TogoVar | ||||||
GTF3C6_chr6_110953706_110972872 | 110956985 | T | TAATTATT others(2710): Show |
upstream_gene_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 346 | 0.0029 | 2717 | c.-17 others(2728): Show |
GTF3C6 | ENSG00000155115.7 | transcript | ENST00000329970.8 | protein_coding | 1720 | chr6 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 163182 | T | TCCCTCCA others(2710): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0039 | 1 | 282 | 0.0036 | 2717 | c.258 others(2734): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(2710): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0128 | 1 | 282 | 0.0036 | 2717 | c.299 others(2732): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | ||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(2710): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0074 | 1 | 362 | 0.0028 | 2717 | c.192 others(2736): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | ||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(2710): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0086 | 1 | 362 | 0.0028 | 2717 | c.192 others(2736): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | ||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(2710): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0297 | 1 | 362 | 0.0028 | 2717 | c.192 others(2736): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | ||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(2710): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01074.hp1 HG01106.hp1 others(17): Show |
a0002a0004a0005 | a0002c0002a0004c0004a0004c0011others(1): Show | a0002c0002t0001a0002c0002t0012a0004c0004t0001others(2): Show | a0002c0002t0001g0025a0002c0002t0001g0042a0002c0002t0001g0082others(17): Show | 20 | 362 | 0.0553 | 2717 | c.192 others(2736): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | ||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(2710): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0005 | a0005c0013 | a0005c0013t0001 | a0005c0013t0001g0134 | 1 | 362 | 0.0028 | 2717 | c.192 others(2736): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | ||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(2710): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01192.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0067a0002c0002t0001g0118 | 2 | 362 | 0.0055 | 2717 | c.192 others(2736): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | ||||||
SLC22A3_chr6_160343378_160457577 | 160456788 | G | GTGGTAGT others(2710): Show |
downstream_gene_variant | MODIFIER | HG02572.hp1 HG03471.hp1 |
a0001a0003 | a0001c0001a0003c0009 | a0001c0001t0004a0003c0009t0004 | a0001c0001t0004g0268a0003c0009t0004g0199 | 2 | 318 | 0.0063 | 2717 | c.*57 others(2728): Show |
SLC22A3 | ENSG00000146477.6 | transcript | ENST00000275300.3 | protein_coding | 4212 | chr6 | TogoVar | ||||||
SLC22A3_chr6_160343378_160457577 | 160456788 | G | GTGGTAGT others(2710): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0267 | 1 | 318 | 0.0031 | 2717 | c.*57 others(2728): Show |
SLC22A3 | ENSG00000146477.6 | transcript | ENST00000275300.3 | protein_coding | 4212 | chr6 | TogoVar | ||||||
SLC35F3_chr1_233899676_234329511 | 234207442 | T | TCCTTCTT others(2710): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0145 | 1 | 158 | 0.0063 | 2717 | c.284 others(2736): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20038315 | A | AACTTTTT others(2710): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0003 | a0003c0007 | a0003c0007t0003 | a0003c0007t0003g0091 | 1 | 250 | 0.0040 | 2717 | c.-22 others(2736): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ST6GAL1_chr3_186925526_187083553 | 186982842 | C | CAGCTAAT others(2710): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0003 | a0001c0003t0076 | a0001c0003t0076g0056 | 1 | 362 | 0.0028 | 2717 | c.-18 others(2738): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
TSHZ2_chr20_52967358_53500330 | 53101947 | T | TGAAATTT others(2710): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 174 | 0.0058 | 2717 | c.40+ others(2736): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
AHRR_chr5_316714_443285 | 344505 | T | TGTGTGTG others(2711): Show |
intron_variant | MODIFIER | HG02071.hp2 NA19060.hp2 NA19064.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0063a0002c0002t0001 | a0001c0001t0003g0174a0001c0001t0063g0173a0002c0002t0001g0172 | 3 | 268 | 0.0112 | 2718 | c.62+ others(2731): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 344505 | T | TGTGTGTG others(2711): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0002 | a0002c0002 | a0002c0002t0052 | a0002c0002t0052g0194 | 1 | 268 | 0.0037 | 2718 | c.62+ others(2731): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 344505 | T | TGTGTGTG others(2711): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0192 | 1 | 268 | 0.0037 | 2718 | c.62+ others(2731): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 344505 | T | TGTGTGTG others(2711): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0008 | a0001c0008t0025 | a0001c0008t0025g0158 | 1 | 268 | 0.0037 | 2718 | c.62+ others(2731): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 344505 | T | TGTGTGTG others(2711): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01261.hp2 |
a0001a0002 | a0001c0008a0002c0002 | a0001c0008t0025a0002c0002t0049 | a0001c0008t0025g0159a0002c0002t0049g0160 | 2 | 268 | 0.0075 | 2718 | c.62+ others(2731): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 344505 | T | TGTGTGTG others(2711): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0201 | 1 | 268 | 0.0037 | 2718 | c.62+ others(2731): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 344505 | T | TGTGTGTG others(2711): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0203 | 1 | 268 | 0.0037 | 2718 | c.62+ others(2731): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 344505 | T | TGTGTGTG others(2711): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0206 | 1 | 268 | 0.0037 | 2718 | c.62+ others(2731): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 344505 | T | TGTGTGTG others(2711): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01934.hp1 NA19002.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0122a0002c0002t0001g0191a0002c0002t0001g0193 | 3 | 268 | 0.0112 | 2718 | c.62+ others(2731): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 344505 | T | TGTGTGTG others(2711): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0186 | 1 | 268 | 0.0037 | 2718 | c.62+ others(2731): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 344505 | T | TGTGTGTG others(2711): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0043 | 1 | 268 | 0.0037 | 2718 | c.62+ others(2731): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 344505 | T | TGTGTGTG others(2711): Show |
intron_variant | MODIFIER | NA18947.hp1 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0042a0001c0001t0003g0041 | 2 | 268 | 0.0075 | 2718 | c.62+ others(2731): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
EML5_chr14_88607431_88797953 | 88684236 | A | ATAAATTT others(2711): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0227 | 1 | 332 | 0.0030 | 2718 | c.298 others(2735): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 20/43 | chr14 | TogoVar | ||||||
FAM120B_chr6_170301758_170412067 | 170399468 | T | TCTTAGGA others(2711): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0084 | 1 | 289 | 0.0035 | 2718 | c.269 others(2737): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
FAM120B_chr6_170301758_170412067 | 170399756 | G | GAAGGTAG others(2711): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0276 | 1 | 289 | 0.0035 | 2718 | c.269 others(2737): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MEGF6_chr1_3482951_3616508 | 3583885 | C | CCCGCAGC others(2711): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0119 | 1 | 292 | 0.0034 | 2718 | c.377 others(2735): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar |