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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
POU6F2_chr7_38972909_39473601 | 39040063 | T | TTATATAT others(641): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0084 | 1 | 170 | 0.0059 | 648 | c.106 others(667): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2106627 | C | CTTCAGCA others(641): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0137 | 1 | 286 | 0.0035 | 648 | c.335 others(667): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2106663 | T | TGTCACCA others(641): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0033 | 1 | 286 | 0.0035 | 648 | c.335 others(667): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 492507 | C | CCCAGGGC others(641): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 295 | 0.0034 | 648 | c.126 others(667): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 492507 | C | CCCAGGGC others(641): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 295 | 0.0034 | 648 | c.126 others(667): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30388398 | G | GCTTATAA others(641): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0039 | 1 | 304 | 0.0033 | 648 | c.66+ others(663): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RIMBP2_chr12_130391133_130721299 | 130646051 | C | CTCCCTCT others(641): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0122 | 1 | 180 | 0.0056 | 648 | c.-35 others(669): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
ROBO2_chr3_77035099_77654964 | 77323064 | T | TATATTAT others(641): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0030 | 1 | 160 | 0.0063 | 648 | c.389 others(669): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ROBO2_chr3_77035099_77654964 | 77323064 | T | TATATTAT others(641): Show |
intron_variant | MODIFIER | HG00735.hp1 NA18945.hp2 NA18973.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0002g0091 a0001c0001t0004g0150 a0001c0001t0006g0025 others(1): Show |
4 | 160 | 0.0250 | 648 | c.389 others(669): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ROBO2_chr3_77035099_77654964 | 77355126 | C | CGCATACC others(641): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0047 | 1 | 160 | 0.0063 | 648 | c.389 others(669): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | chr3 | TogoVar | |||||||
RPA3_chr7_7631518_7723607 | 7679096 | A | AATATATA others(641): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0269 | 1 | 308 | 0.0033 | 648 | c.-75 others(667): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 287123 | A | ACCCTCTC others(641): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0118 | 1 | 133 | 0.0075 | 648 | c.352 others(665): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 304998 | A | AGGGGGAC others(641): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 133 | 0.0075 | 648 | c.351 others(667): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
RPTOR_chr17_80539838_80971368 | 80743870 | C | CACTATCC others(641): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0023 | a0001c0023t0008 | a0001c0023t0008g0134 | 1 | 196 | 0.0051 | 648 | c.655 others(667): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80744536 | C | CACTGTCC others(641): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0093 | a0001c0093t0070 | a0001c0093t0070g0155 | 1 | 196 | 0.0051 | 648 | c.655 others(665): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80744793 | C | CCCTGGTT others(641): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0043 | 1 | 196 | 0.0051 | 648 | c.655 others(665): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80744793 | C | CCCTGGTT others(641): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0024 | a0001c0024t0003 | a0001c0024t0003g0129 | 1 | 196 | 0.0051 | 648 | c.655 others(665): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SART1_chr11_65956734_65985137 | 65971120 | T | TGAGGAGG others(641): Show |
intron_variant | MODIFIER | NA18992.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0121 | 1 | 384 | 0.0026 | 648 | c.157 others(667): Show |
SART1 | ENSG00000175467.15 | transcript | ENST00000312397.10 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31431778 | T | TAGGGTGG others(641): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0005 | a0005c0019 | a0005c0019t0002 | a0005c0019t0002g0079 | 1 | 376 | 0.0027 | 648 | c.101 others(667): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31431966 | A | ATAGGGTG others(641): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0309 | 1 | 376 | 0.0027 | 648 | c.101 others(665): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432012 | T | TAGGGTGG others(641): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0002 | a0002c0006 | a0002c0006t0008 | a0002c0006t0008g0204 | 1 | 376 | 0.0027 | 648 | c.101 others(665): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432156 | C | CAGGGTGG others(641): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0292 | 1 | 376 | 0.0027 | 648 | c.101 others(665): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9792159 | T | TAGAATAG others(641): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 256 | 0.0039 | 648 | c.165 others(665): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SKI_chr1_2223319_2315213 | 2281445 | C | CGGCGGCG others(641): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0085 | 1 | 330 | 0.0030 | 648 | c.970 others(667): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SMIM47_chr19_50780728_50791160 | 50784590 | G | GGGAGGGA others(641): Show |
downstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 352 | 0.0028 | 648 | c.*12 others(659): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1137 | chr19 | TogoVar | |||||||
SMIM47_chr19_50780728_50791160 | 50784593 | A | AGGGAGGG others(641): Show |
downstream_gene_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 352 | 0.0028 | 648 | c.*12 others(659): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1134 | chr19 | TogoVar | |||||||
ST6GALNAC5_chr1_76862480_77072546 | 77016234 | C | CTCCTCCT others(641): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0184 | 1 | 202 | 0.0050 | 648 | c.262 others(667): Show |
ST6GALNAC5 | ENSG00000117069.15 | transcript | ENST00000477717.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(641): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0310 | 1 | 322 | 0.0031 | 648 | c.597 others(665): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | |||||||
SUFU_chr10_102498972_102638535 | 102637392 | T | TTATATAA others(641): Show |
downstream_gene_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 268 | 0.0037 | 648 | c.*72 others(659): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3858 | chr10 | TogoVar | |||||||
TLL2_chr10_96359608_96518926 | 96415729 | G | GTCTCTCT others(641): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0115 | 1 | 256 | 0.0039 | 648 | c.924 others(665): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 7/20 | chr10 | TogoVar | |||||||
TLL2_chr10_96359608_96518926 | 96415729 | G | GTCTCTCT others(641): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01243.hp1 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0024 a0001c0001t0005g0090 a0001c0001t0005g0091 |
3 | 256 | 0.0117 | 648 | c.924 others(665): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 7/20 | chr10 | TogoVar | |||||||
TLL2_chr10_96359608_96518926 | 96415729 | G | GTCTCTCT others(641): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0166 | 1 | 256 | 0.0039 | 648 | c.924 others(665): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 7/20 | chr10 | TogoVar | |||||||
TLL2_chr10_96359608_96518926 | 96415729 | G | GTCTCTCT others(641): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0255 | 1 | 256 | 0.0039 | 648 | c.924 others(665): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 7/20 | chr10 | TogoVar | |||||||
TLL2_chr10_96359608_96518926 | 96415729 | G | GTCTCTCT others(641): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0002 | a0001c0002t0042 | a0001c0002t0042g0254 | 1 | 256 | 0.0039 | 648 | c.924 others(665): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 7/20 | chr10 | TogoVar | |||||||
TLL2_chr10_96359608_96518926 | 96415729 | G | GTCTCTCT others(641): Show |
intron_variant | MODIFIER | HG03710.hp1 HG04204.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0007 | a0001c0001t0003g0148 a0001c0002t0007g0052 |
2 | 256 | 0.0078 | 648 | c.924 others(665): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 7/20 | chr10 | TogoVar | |||||||
TMEM185A_chrX_149591556_149636792 | 149605308 | A | ACTATGGC others(641): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0031 | 1 | 259 | 0.0039 | 648 | c.424 others(665): Show |
TMEM185A | ENSG00000269556.9 | transcript | ENST00000600449.8 | protein_coding | 3/6 | chrX | TogoVar | |||||||
TMEM255B_chr13_113754226_113821995 | 113817317 | T | TCCTCCCC others(641): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 HG02922.hp1 HG02965.hp2 others(1): Show |
a0001 | a0001c0006 | a0001c0006t0016a0001c0006t0163 | a0001c0006t0016g0010 a0001c0006t0016g0095 a0001c0006t0016g0096 others(1): Show |
4 | 260 | 0.0154 | 648 | c.*54 others(659): Show |
TMEM255B | ENSG00000184497.13 | transcript | ENST00000375353.5 | protein_coding | 323 | chr13 | TogoVar | |||||||
TMEM255B_chr13_113754226_113821995 | 113817317 | T | TCCTCCCC others(641): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 | a0009 | a0009c0013 | a0009c0013t0172 | a0009c0013t0172g0206 | 1 | 260 | 0.0039 | 648 | c.*54 others(659): Show |
TMEM255B | ENSG00000184497.13 | transcript | ENST00000375353.5 | protein_coding | 323 | chr13 | TogoVar | |||||||
TMEM255B_chr13_113754226_113821995 | 113817328 | C | CGGGACAC others(641): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 HG03942.hp1 HG04228.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0074a0001c0001t0168 | a0001c0001t0002g0204 a0001c0001t0074g0159 a0001c0001t0168g0081 |
3 | 260 | 0.0115 | 648 | c.*54 others(659): Show |
TMEM255B | ENSG00000184497.13 | transcript | ENST00000375353.5 | protein_coding | 334 | chr13 | TogoVar | |||||||
TMEM255B_chr13_113754226_113821995 | 113817328 | C | CGGGACAC others(641): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 HG00642.hp1 HG01099.hp2 others(11): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0003a0001c0001t0006a0001c0001t0010others(9): Show | a0001c0001t0003g0196 a0001c0001t0006g0015 a0001c0001t0010g0069 others(11): Show |
14 | 260 | 0.0539 | 648 | c.*54 others(659): Show |
TMEM255B | ENSG00000184497.13 | transcript | ENST00000375353.5 | protein_coding | 334 | chr13 | TogoVar | |||||||
TMEM255B_chr13_113754226_113821995 | 113817328 | C | CGGGACAC others(641): Show |
downstream_gene_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0002 | a0001c0002t0045 | a0001c0002t0045g0126 | 1 | 260 | 0.0039 | 648 | c.*54 others(659): Show |
TMEM255B | ENSG00000184497.13 | transcript | ENST00000375353.5 | protein_coding | 334 | chr13 | TogoVar | |||||||
TTLL10_chr1_1168880_1202936 | 1184655 | G | GGCCTTCT others(641): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0012 | a0012c0032 | a0012c0032t0003 | a0012c0032t0003g0039 | 1 | 382 | 0.0026 | 648 | c.126 others(665): Show |
TTLL10 | ENSG00000162571.14 | transcript | ENST00000379289.6 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TTLL10_chr1_1168880_1202936 | 1184655 | G | GGCCTTCT others(641): Show |
intron_variant | MODIFIER | HG01123.hp2 HG02109.hp1 HG02896.hp2 others(4): Show |
a0001a0006a0011others(1): Show | a0001c0002a0006c0019a0011c0020others(1): Show | a0001c0002t0001a0006c0019t0001a0011c0020t0001others(1): Show | a0001c0002t0001g0025 a0006c0019t0001g0255 a0011c0020t0001g0033 others(2): Show |
7 | 382 | 0.0183 | 648 | c.126 others(665): Show |
TTLL10 | ENSG00000162571.14 | transcript | ENST00000379289.6 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TTLL10_chr1_1168880_1202936 | 1184655 | G | GGCCTTCT others(641): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0024 | a0001c0024t0003 | a0001c0024t0003g0070 | 1 | 382 | 0.0026 | 648 | c.126 others(665): Show |
TTLL10 | ENSG00000162571.14 | transcript | ENST00000379289.6 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TTLL10_chr1_1168880_1202936 | 1184655 | G | GGCCTTCT others(641): Show |
intron_variant | MODIFIER | HG03225.hp1 NA19240.hp2 |
a0001 | a0001c0011a0001c0016 | a0001c0011t0001a0001c0016t0004 | a0001c0011t0001g0228 a0001c0016t0004g0089 |
2 | 382 | 0.0052 | 648 | c.126 others(665): Show |
TTLL10 | ENSG00000162571.14 | transcript | ENST00000379289.6 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
UBE2E3_chr2_180975605_181068425 | 181021562 | T | TCCTTCCT others(641): Show |
intron_variant | MODIFIER | HG02717.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 a0001c0001t0001g0111 |
2 | 338 | 0.0059 | 648 | c.246 others(667): Show |
UBE2E3 | ENSG00000170035.16 | transcript | ENST00000410062.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UNC13A_chr19_17596336_17693354 | 17631180 | T | TCCCTCCC others(641): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0040 | 1 | 320 | 0.0031 | 648 | c.342 others(665): Show |
UNC13A | ENSG00000130477.16 | transcript | ENST00000519716.7 | protein_coding | 28/43 | chr19 | TogoVar | |||||||
VPS16_chr20_2835745_2871732 | 2842844 | C | CTATAGAT others(641): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 408 | 0.0025 | 648 | c.53+ others(663): Show |
VPS16 | ENSG00000215305.10 | transcript | ENST00000380445.8 | protein_coding | 1/23 | chr20 | TogoVar | |||||||
WDR64_chr1_241647281_241807777 | 241674918 | T | TCCTTCCT others(641): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0005 | a0005c0021 | a0005c0021t0002 | a0005c0021t0002g0189 | 1 | 326 | 0.0031 | 648 | c.483 others(663): Show |
WDR64 | ENSG00000162843.18 | transcript | ENST00000437684.7 | protein_coding | 4/27 | chr1 | TogoVar | |||||||
ZNF365_chr10_62369369_62407450 | 62370988 | A | ACATATAT others(641): Show |
upstream_gene_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0128 | 1 | 350 | 0.0029 | 648 | c.-34 others(659): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3380 | chr10 | TogoVar |