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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C1QTNF9_chr13_24304580_24327531 | 24314869 | T | TGAAAATG others(2255): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 466 | 0.0022 | 2262 | c.-22 others(2279): Show |
C1QTNF9 | ENSG00000240654.6 | transcript | ENST00000332018.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
C1QTNF9_chr13_24304580_24327531 | 24314869 | T | TGAAAATG others(2255): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 466 | 0.0022 | 2262 | c.-22 others(2279): Show |
C1QTNF9 | ENSG00000240654.6 | transcript | ENST00000332018.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
C4orf19_chr4_37448925_37598510 | 37585521 | A | ATGTTGAG others(2255): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0056 | 1 | 354 | 0.0028 | 2262 | c.-22 others(2279): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CDH4_chr20_61247261_61945617 | 61331613 | C | CCCCAGGC others(2255): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0104 | 1 | 106 | 0.0094 | 2262 | c.169 others(2281): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(2255): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 175 | 0.0057 | 2262 | c.164 others(2281): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(2255): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01243.hp1 HG02976.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0002 | a0001c0001t0001g0022a0001c0001t0001g0058a0001c0001t0005g0170others(2): Show | 5 | 175 | 0.0286 | 2262 | c.164 others(2281): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EVC2_chr4_5557439_5713559 | 5706437 | G | GATACATA others(2255): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0008 | a0008c0020 | a0008c0020t0001 | a0008c0020t0001g0135 | 1 | 292 | 0.0034 | 2262 | c.228 others(2279): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706437 | G | GATAGACA others(2255): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0008 | a0008c0032 | a0008c0032t0001 | a0008c0032t0001g0133 | 1 | 292 | 0.0034 | 2262 | c.228 others(2279): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706349 | G | GATAGATA others(2255): Show |
upstream_gene_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0263 | 1 | 369 | 0.0027 | 2262 | c.-50 others(2273): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4851 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706437 | G | GATACATA others(2255): Show |
upstream_gene_variant | MODIFIER | HG02723.hp2 | a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0359 | 1 | 369 | 0.0027 | 2262 | c.-49 others(2273): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4763 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706437 | G | GATAGACA others(2255): Show |
upstream_gene_variant | MODIFIER | HG02896.hp2 HG02897.hp1 |
a0006 | a0006c0012 | a0006c0012t0014 | a0006c0012t0014g0357a0006c0012t0014g0358 | 2 | 369 | 0.0054 | 2262 | c.-49 others(2273): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4763 | chr4 | TogoVar | ||||||
FLG2_chr1_152343735_152365006 | 152350994 | G | GTGCACTT others(2255): Show |
disruptive_inframe_insertion | MODERATE | NA18999.hp2 NA19060.hp2 |
a0014 | a0014c0025 | a0014c0025t0002 | a0014c0025t0002g0032 | 2 | 422 | 0.0047 | 2262 | c.679 others(2271): Show |
p.His others(2277): Show |
FLG2 | ENSG00000143520.6 | transcript | ENST00000388718.5 | protein_coding | 3/3 | 6864/9124 | 6791/7176 | 2264/2391 | chr1 | TogoVar | ||
INPP5A_chr10_132532787_132788480 | 132775188 | G | GGGGCAGG others(2255): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0200 | 1 | 204 | 0.0049 | 2262 | c.978 others(2279): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2255): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0002 | a0002c0054 | a0002c0054t0001 | a0002c0054t0001g0114 | 1 | 294 | 0.0034 | 2262 | c.515 others(2279): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2255): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01081.hp1 HG01928.hp1 others(2): Show |
a0001 | a0001c0005 | a0001c0005t0001a0001c0005t0012 | a0001c0005t0001g0111a0001c0005t0001g0112a0001c0005t0001g0113others(2): Show | 5 | 294 | 0.0170 | 2262 | c.515 others(2279): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2255): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0109 | 1 | 294 | 0.0034 | 2262 | c.515 others(2279): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | ||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2255): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02970.hp1 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0039 | a0001c0001t0003g0036a0001c0001t0003g0095a0001c0001t0039g0034 | 3 | 116 | 0.0259 | 2262 | c.522 others(2279): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NCOR2_chr12_124319415_124572612 | 124439414 | C | CAGAGAGA others(2255): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG00642.hp1 others(15): Show |
a0001a0002a0003others(6): Show | a0001c0028a0001c0029a0001c0038others(14): Show | a0001c0028t0026a0001c0029t0002a0001c0038t0005others(15): Show | a0001c0028t0026g0108a0001c0029t0002g0040a0001c0038t0005g0156others(15): Show | 18 | 234 | 0.0769 | 2262 | c.816 others(2279): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 9/48 | chr12 | TogoVar | ||||||
NCOR2_chr12_124319415_124572612 | 124439414 | C | CAGAGAGA others(2255): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02071.hp2 HG02165.hp1 others(2): Show |
a0002 | a0002c0006a0002c0016a0002c0153 | a0002c0006t0002a0002c0006t0020a0002c0016t0004others(2): Show | a0002c0006t0002g0024a0002c0006t0020g0092a0002c0016t0004g0011others(2): Show | 5 | 234 | 0.0214 | 2262 | c.816 others(2279): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 9/48 | chr12 | TogoVar | ||||||
NCOR2_chr12_124319415_124572612 | 124439414 | C | CAGAGAGA others(2255): Show |
intron_variant | MODIFIER | HG01168.hp2 NA19009.hp2 NA20752.hp2 |
a0003a0009 | a0003c0011a0009c0128 | a0003c0011t0002a0003c0011t0081a0009c0128t0007 | a0003c0011t0002g0090a0003c0011t0081g0234a0009c0128t0007g0155 | 3 | 234 | 0.0128 | 2262 | c.816 others(2279): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 9/48 | chr12 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 458604 | G | GGGTTCAC others(2255): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0173 | 1 | 295 | 0.0034 | 2262 | c.715 others(2279): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RAB11FIP3_chr16_420649_528011 | 458604 | G | GGGTTCAC others(2255): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0136 | 1 | 295 | 0.0034 | 2262 | c.715 others(2279): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2256): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 334 | 0.0030 | 2263 | c.147 others(2280): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ARPC2_chr2_218212189_218259348 | 218231229 | C | CATATTGG others(2256): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 332 | 0.0030 | 2263 | c.222 others(2280): Show |
ARPC2 | ENSG00000163466.16 | transcript | ENST00000315717.10 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
C1QTNF9_chr13_24304580_24327531 | 24314869 | T | TGAAAATG others(2256): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 466 | 0.0022 | 2263 | c.-22 others(2280): Show |
C1QTNF9 | ENSG00000240654.6 | transcript | ENST00000332018.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90647405 | T | TCCTCCTC others(2256): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0129 | 1 | 276 | 0.0036 | 2263 | c.*52 others(2274): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2061 | chr15 | TogoVar | ||||||
DPYSL5_chr2_26843132_26955351 | 26921441 | T | TAAACATC others(2256): Show |
intron_variant | MODIFIER | HG02451.hp2 HG03209.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009 | a0001c0001t0003g0003a0001c0001t0009g0001a0001c0001t0009g0002 | 3 | 232 | 0.0129 | 2263 | c.262 others(2280): Show |
DPYSL5 | ENSG00000157851.17 | transcript | ENST00000288699.11 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
FOXRED1_chr11_126264154_126283126 | 126276306 | T | TATGTGGT others(2256): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0188 | 1 | 390 | 0.0026 | 2263 | c.971 others(2276): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | chr11 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2256): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0186 | 1 | 390 | 0.0026 | 2263 | c.972 others(2276): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2256): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0187 | 1 | 390 | 0.0026 | 2263 | c.972 others(2276): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
IFNAR1_chr21_33319970_33364864 | 33323368 | G | GAATATAT others(2256): Show |
upstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 2 | 323 | 0.0062 | 2263 | c.-16 others(2274): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1601 | chr21 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997496 | A | ATCTGCAG others(2256): Show |
upstream_gene_variant | MODIFIER | HG02965.hp1 | a0006 | a0006c0008 | a0006c0008t0016 | a0006c0008t0016g0170 | 1 | 375 | 0.0027 | 2263 | c.-19 others(2274): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 174 | chr6 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364368 | T | TACACCCA others(2256): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0230 | 1 | 290 | 0.0035 | 2263 | c.129 others(2282): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
TEX19_chr17_82354247_82368775 | 82359639 | C | CAGATTCC others(2256): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0034 | 1 | 380 | 0.0026 | 2263 | c.-27 others(2280): Show |
TEX19 | ENSG00000182459.5 | transcript | ENST00000333437.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
USP12_chr13_27061156_27176811 | 27063850 | A | AGGAAGGG others(2256): Show |
downstream_gene_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 167 | 0.0060 | 2263 | c.*54 others(2274): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2305 | chr13 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25758600 | T | TCACCTGC others(2257): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0259 | 1 | 300 | 0.0033 | 2264 | c.654 others(2283): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25758600 | T | TCACCTGC others(2257): Show |
intron_variant | MODIFIER | NA18968.hp1 NA18971.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0125a0002c0002t0001g0256 | 2 | 300 | 0.0067 | 2264 | c.654 others(2283): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
NCOR2_chr12_124319415_124572612 | 124439414 | C | CAGAGAGA others(2257): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0157 | 1 | 234 | 0.0043 | 2264 | c.816 others(2281): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 9/48 | chr12 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2257): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0051 | a0051c0051 | a0051c0051t0002 | a0051c0051t0002g0193 | 1 | 216 | 0.0046 | 2264 | c.801 others(2281): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
SCUBE2_chr11_9014476_9096599 | 9082987 | T | TAAAAAGT others(2257): Show |
intron_variant | MODIFIER | HG00323.hp2 HG03704.hp2 NA19078.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0229a0001c0001t0004g0288a0001c0001t0004g0319 | 3 | 358 | 0.0084 | 2264 | c.257 others(2281): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 2/22 | chr11 | TogoVar | ||||||
SCUBE2_chr11_9014476_9096599 | 9082987 | T | TAAAAAGT others(2257): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0290 | 1 | 358 | 0.0028 | 2264 | c.257 others(2281): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 2/22 | chr11 | TogoVar | ||||||
FMN2_chr1_240086883_240480187 | 240185033 | C | CCCCTTCT others(2258): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0076 | a0001c0076t0004 | a0001c0076t0004g0083 | 1 | 174 | 0.0058 | 2265 | c.193 others(2284): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SCNN1D_chr1_1275436_1297025 | 1289847 | G | GTCTCTGC others(2258): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 290 | 0.0035 | 2265 | c.166 others(2282): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SCUBE2_chr11_9014476_9096599 | 9082987 | T | TAAAAAGT others(2258): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0329 | 1 | 358 | 0.0028 | 2265 | c.257 others(2282): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 2/22 | chr11 | TogoVar | ||||||
SCUBE2_chr11_9014476_9096599 | 9082987 | T | TAAAAAGT others(2258): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0344 | 1 | 358 | 0.0028 | 2265 | c.257 others(2282): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 2/22 | chr11 | TogoVar | ||||||
SCUBE2_chr11_9014476_9096599 | 9082987 | T | TAAAAAGT others(2258): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00597.hp2 NA18962.hp2 others(5): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0003a0001c0001t0004a0002c0002t0001others(2): Show | a0001c0001t0003g0330a0001c0001t0004g0253a0001c0001t0004g0254others(5): Show | 8 | 358 | 0.0224 | 2265 | c.257 others(2282): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 2/22 | chr11 | TogoVar | ||||||
SCUBE2_chr11_9014476_9096599 | 9082987 | T | TAAAAAGT others(2258): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00621.hp1 HG00621.hp2 others(39): Show |
a0001a0002a0004others(4): Show | a0001c0001a0002c0002a0004c0004others(5): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0008others(11): Show | a0001c0001t0003g0226a0001c0001t0003g0240a0001c0001t0003g0241others(39): Show | 42 | 358 | 0.1173 | 2265 | c.257 others(2282): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 2/22 | chr11 | TogoVar | ||||||
SCUBE2_chr11_9014476_9096599 | 9082987 | T | TAAAAAGT others(2258): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0332 | 1 | 358 | 0.0028 | 2265 | c.257 others(2282): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 2/22 | chr11 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100746160 | T | TAAAGAAA others(2259): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0022 | 1 | 314 | 0.0032 | 2266 | c.173 others(2287): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | ||||||
C1QTNF9_chr13_24304580_24327531 | 24314869 | T | TGAAAATG others(2259): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00741.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 2 | 466 | 0.0043 | 2266 | c.-22 others(2283): Show |
C1QTNF9 | ENSG00000240654.6 | transcript | ENST00000332018.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |