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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SERPINF2_chr17_1737871_1760265 | 1741407 | A | AGGACAGT others(2421): Show |
upstream_gene_variant | MODIFIER | HG04204.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0036 | 1 | 445 | 0.0023 | 2428 | c.-15 others(2439): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 1463 | chr17 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1741407 | A | AGGACAGT others(2421): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 HG00738.hp2 HG01255.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0004 | a0002c0002t0001g0033 a0002c0002t0001g0061 a0002c0002t0001g0063 others(2): Show |
5 | 445 | 0.0112 | 2428 | c.-15 others(2439): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 1463 | chr17 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1741407 | A | AGGACAGT others(2421): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG01257.hp1 HG01258.hp1 others(24): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0001a0002c0002t0004a0004c0004t0002others(2): Show | a0002c0002t0001g0004 a0002c0002t0001g0018 a0002c0002t0001g0020 others(17): Show |
27 | 445 | 0.0607 | 2428 | c.-15 others(2439): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 1463 | chr17 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1741407 | A | AGGACAGT others(2421): Show |
upstream_gene_variant | MODIFIER | NA18995.hp1 NA19066.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0034 | 2 | 445 | 0.0045 | 2428 | c.-15 others(2439): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 1463 | chr17 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1741407 | A | AGGACAGT others(2421): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0072 | 1 | 445 | 0.0023 | 2428 | c.-15 others(2439): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 1463 | chr17 | TogoVar | |||||||
SPAAR_chr9_35904490_35916686 | 35913472 | T | TTGCTGTG others(2421): Show |
downstream_gene_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 420 | 0.0024 | 2428 | c.*27 others(2439): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 1787 | chr9 | TogoVar | |||||||
SPAAR_chr9_35904490_35916686 | 35913964 | T | TAGTGTGT others(2421): Show |
downstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 420 | 0.0024 | 2428 | c.*32 others(2439): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2279 | chr9 | TogoVar | |||||||
WDR81_chr17_1719704_1743585 | 1741407 | A | AGGACAGT others(2421): Show |
downstream_gene_variant | MODIFIER | HG02735.hp1 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0091 | 1 | 431 | 0.0023 | 2428 | c.*37 others(2439): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 2823 | chr17 | TogoVar | |||||||
WDR81_chr17_1719704_1743585 | 1741407 | A | AGGACAGT others(2421): Show |
downstream_gene_variant | MODIFIER | HG04204.hp1 | a0003 | a0003c0008 | a0003c0008t0003 | a0003c0008t0003g0002 | 1 | 431 | 0.0023 | 2428 | c.*37 others(2439): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 2823 | chr17 | TogoVar | |||||||
WDR81_chr17_1719704_1743585 | 1741407 | A | AGGACAGT others(2421): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 HG00738.hp1 HG01255.hp1 others(7): Show |
a0003 | a0003c0005a0003c0011 | a0003c0005t0003a0003c0011t0003 | a0003c0005t0003g0002 a0003c0005t0003g0065 a0003c0011t0003g0002 others(2): Show |
10 | 431 | 0.0232 | 2428 | c.*37 others(2439): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 2823 | chr17 | TogoVar | |||||||
WDR81_chr17_1719704_1743585 | 1741407 | A | AGGACAGT others(2421): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 HG01257.hp1 HG01258.hp2 others(20): Show |
a0003a0014a0029 | a0003c0004a0003c0005a0003c0008others(4): Show | a0003c0004t0003a0003c0004t0013a0003c0005t0003others(5): Show | a0003c0004t0003g0002 a0003c0004t0003g0016 a0003c0004t0003g0031 others(7): Show |
23 | 431 | 0.0534 | 2428 | c.*37 others(2439): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 2823 | chr17 | TogoVar | |||||||
WDR81_chr17_1719704_1743585 | 1741407 | A | AGGACAGT others(2421): Show |
downstream_gene_variant | MODIFIER | NA18995.hp1 NA19009.hp2 |
a0003 | a0003c0005 | a0003c0005t0003 | a0003c0005t0003g0002 | 2 | 431 | 0.0046 | 2428 | c.*37 others(2439): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 2823 | chr17 | TogoVar | |||||||
WDR81_chr17_1719704_1743585 | 1741407 | A | AGGACAGT others(2421): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 | a0009 | a0009c0039 | a0009c0039t0003 | a0009c0039t0003g0081 | 1 | 431 | 0.0023 | 2428 | c.*37 others(2439): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 2823 | chr17 | TogoVar | |||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2422): Show |
upstream_gene_variant | MODIFIER | HG01928.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0012 | 1 | 301 | 0.0033 | 2429 | c.-11 others(2440): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(2422): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0022 | a0022c0078 | a0022c0078t0008 | a0022c0078t0008g0256 | 1 | 292 | 0.0034 | 2429 | c.218 others(2444): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1741407 | A | AGGACAGT others(2422): Show |
upstream_gene_variant | MODIFIER | HG01515.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 | 1 | 445 | 0.0023 | 2429 | c.-15 others(2440): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 1463 | chr17 | TogoVar | |||||||
SPECC1_chr17_20004359_20324026 | 20038315 | A | AACTTTTT others(2422): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0003 | a0003c0007 | a0003c0007t0003 | a0003c0007t0003g0088 | 1 | 250 | 0.0040 | 2429 | c.-22 others(2448): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
WDR81_chr17_1719704_1743585 | 1741407 | A | AGGACAGT others(2422): Show |
downstream_gene_variant | MODIFIER | HG01515.hp1 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0002 | 1 | 431 | 0.0023 | 2429 | c.*37 others(2440): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 2823 | chr17 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(2423): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0190 | 1 | 298 | 0.0034 | 2430 | c.955 others(2447): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 262289 | T | TAGATCTA others(2423): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0043 | 1 | 290 | 0.0035 | 2430 | c.-95 others(2449): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647402 | C | CCCTCCTC others(2423): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 | a0002 | a0002c0002 | a0002c0002t0048 | a0002c0002t0048g0089 | 1 | 276 | 0.0036 | 2430 | c.*52 others(2441): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2058 | chr15 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586256 | G | GGGGGGGA others(2423): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0194 | 1 | 308 | 0.0033 | 2430 | c.157 others(2445): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124507328 | T | TGGGGGGG others(2423): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0209 | 1 | 260 | 0.0039 | 2430 | c.624 others(2447): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 492389 | G | GCCCTCCC others(2423): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0021 | 1 | 295 | 0.0034 | 2430 | c.126 others(2449): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(2423): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 HG02572.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 3 | 375 | 0.0080 | 2430 | c.*44 others(2441): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(2423): Show |
downstream_gene_variant | MODIFIER | HG02886.hp2 HG03041.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 3 | 375 | 0.0080 | 2430 | c.*44 others(2441): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(2423): Show |
downstream_gene_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0000 | 1 | 375 | 0.0027 | 2430 | c.*44 others(2441): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251122 | C | CCACCACC others(2423): Show |
downstream_gene_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 1 | 375 | 0.0027 | 2430 | c.*44 others(2441): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3107 | chr10 | TogoVar | |||||||
SPAAR_chr9_35904490_35916686 | 35913964 | T | TAGTGTGT others(2423): Show |
downstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 420 | 0.0024 | 2430 | c.*32 others(2441): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2279 | chr9 | TogoVar | |||||||
SPECC1_chr17_20004359_20324026 | 20038315 | A | AACTTTTT others(2423): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0003 | a0003c0007 | a0003c0007t0011 | a0003c0007t0011g0099 | 1 | 250 | 0.0040 | 2430 | c.-22 others(2449): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1273751 | C | CCGCCATC others(2423): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0050 | 1 | 392 | 0.0026 | 2430 | c.228 others(2449): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(2424): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0003 | a0003c0007 | a0003c0007t0004 | a0003c0007t0004g0280 | 1 | 298 | 0.0034 | 2431 | c.955 others(2448): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084560 | A | AGTAGTGG others(2424): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0162 | 1 | 298 | 0.0034 | 2431 | c.126 others(2448): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DOCK2_chr5_169632275_170088382 | 169949675 | T | TCAATGTG others(2424): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0010 | a0010c0085 | a0010c0085t0002 | a0010c0085t0002g0132 | 1 | 184 | 0.0054 | 2431 | c.280 others(2452): Show |
DOCK2 | ENSG00000134516.20 | transcript | ENST00000520908.7 | protein_coding | 27/51 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DOCK2_chr5_169632275_170088382 | 169949675 | T | TCAATGTG others(2424): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0048 | a0001c0048t0002 | a0001c0048t0002g0122 | 1 | 184 | 0.0054 | 2431 | c.280 others(2452): Show |
DOCK2 | ENSG00000134516.20 | transcript | ENST00000520908.7 | protein_coding | 27/51 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
INSYN2B_chr5_169856303_169985495 | 169949675 | T | TCAATGTG others(2424): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0307 | 1 | 318 | 0.0031 | 2431 | c.-91 others(2452): Show |
INSYN2B | ENSG00000204767.4 | transcript | ENST00000377365.4 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
INSYN2B_chr5_169856303_169985495 | 169949675 | T | TCAATGTG others(2424): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0158 | 1 | 318 | 0.0031 | 2431 | c.-91 others(2452): Show |
INSYN2B | ENSG00000204767.4 | transcript | ENST00000377365.4 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2424): Show |
upstream_gene_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 301 | 0.0033 | 2431 | c.-11 others(2442): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | |||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2424): Show |
upstream_gene_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 301 | 0.0033 | 2431 | c.-11 others(2442): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124507236 | G | GGTAGACA others(2424): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0064 | 1 | 260 | 0.0039 | 2431 | c.624 others(2448): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124507284 | G | GGGTAGGG others(2424): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0105 | 1 | 260 | 0.0039 | 2431 | c.624 others(2448): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2424): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0074 | 1 | 294 | 0.0034 | 2431 | c.515 others(2448): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1414399 | G | GGGGGGCC others(2424): Show |
intron_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0319 | 1 | 373 | 0.0027 | 2431 | c.115 others(2448): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
VCX2_chrX_8164944_8176267 | 8169668 | T | TCCCTCCC others(2424): Show |
downstream_gene_variant | MODIFIER | HG02074.hp1 | a0002 | a0002c0001 | a0002c0001t0014 | a0002c0001t0014g0034 | 1 | 115 | 0.0087 | 2431 | c.*36 others(2440): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 275 | chrX | TogoVar | |||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2425): Show |
upstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 301 | 0.0033 | 2432 | c.-11 others(2443): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | |||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2425): Show |
intron_variant | MODIFIER | HG02145.hp1 NA21309.hp1 |
a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0043 a0002c0002t0009g0079 |
2 | 116 | 0.0172 | 2432 | c.522 others(2449): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2425): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0064 | 1 | 116 | 0.0086 | 2432 | c.522 others(2449): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NXN_chr17_794310_984776 | 952769 | A | AGAGAGCA others(2425): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0003 | a0003c0013 | a0003c0013t0001 | a0003c0013t0001g0236 | 1 | 242 | 0.0041 | 2432 | c.360 others(2451): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1414424 | A | AGAAGGCA others(2425): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 373 | 0.0027 | 2432 | c.115 others(2449): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1414453 | G | GCAGGGCG others(2425): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 373 | 0.0027 | 2432 | c.115 others(2449): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar |