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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FAM118A_chr22_45304934_45346955 | 45328345 | G | GGCAGAAC others(2207): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0112 | 1 | 416 | 0.0024 | 2214 | c.522 others(2229): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MICAL3_chr22_17782649_18029561 | 17877229 | G | GGTTAGGG others(2207): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 274 | 0.0037 | 2214 | c.224 others(2233): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 495014 | G | GGGAGGAT others(2207): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0128 | 1 | 295 | 0.0034 | 2214 | c.126 others(2233): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RAB11FIP3_chr16_420649_528011 | 495014 | G | GGGAGGAT others(2207): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0108 | 1 | 295 | 0.0034 | 2214 | c.126 others(2233): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RAB11FIP3_chr16_420649_528011 | 495014 | G | GGGAGGAT others(2207): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0020 | 1 | 295 | 0.0034 | 2214 | c.126 others(2233): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RAB11FIP3_chr16_420649_528011 | 495014 | G | GGGAGGAT others(2207): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00609.hp1 HG01891.hp2 others(26): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(8): Show | a0001c0001t0002g0002a0001c0001t0003g0125a0001c0001t0003g0133others(26): Show | 29 | 295 | 0.0983 | 2214 | c.126 others(2233): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RAB11FIP3_chr16_420649_528011 | 495014 | G | GGGAGGAT others(2207): Show |
intron_variant | MODIFIER | HG02572.hp1 HG03098.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0041a0001c0001t0056 | a0001c0001t0015g0136a0001c0001t0041g0126a0001c0001t0056g0124 | 3 | 295 | 0.0102 | 2214 | c.126 others(2233): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RAB11FIP3_chr16_420649_528011 | 495014 | G | GGGAGGAT others(2207): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0261 | 1 | 295 | 0.0034 | 2214 | c.126 others(2233): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31432165 | T | TAGGGTGG others(2207): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0323 | 1 | 376 | 0.0027 | 2214 | c.101 others(2231): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168614347 | A | ACCTCTTC others(2207): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0005 | 1 | 180 | 0.0056 | 2214 | c.907 others(2231): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CACNA1H_chr16_1148106_1226768 | 1185649 | T | TCAGCGTG others(2208): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 |
a0006 | a0006c0004 | a0006c0004t0004 | a0006c0004t0004g0285a0006c0004t0004g0286 | 2 | 338 | 0.0059 | 2215 | c.300 others(2232): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2208): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0026 | 1 | 316 | 0.0032 | 2215 | c.44- others(2228): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
KCNJ1_chr11_128833020_128872296 | 128868081 | A | AATATAAT others(2208): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0182 | 1 | 301 | 0.0033 | 2215 | c.-11 others(2226): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 786 | chr11 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196811237 | T | TCCTTCCT others(2208): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0009 | 1 | 178 | 0.0056 | 2215 | c.773 others(2230): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2208): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0028 | a0028c0070 | a0028c0070t0001 | a0028c0070t0001g0099 | 1 | 216 | 0.0046 | 2215 | c.801 others(2232): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PPP4R4_chr14_94169322_94284734 | 94248977 | T | TTGTTACA others(2208): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0127 | 1 | 307 | 0.0033 | 2215 | c.161 others(2234): Show |
PPP4R4 | ENSG00000119698.12 | transcript | ENST00000304338.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
VNN1_chr6_132675849_132719055 | 132706868 | C | CAAAAGAA others(2208): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03453.hp2 |
a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0125a0004c0004t0003g0131 | 2 | 418 | 0.0048 | 2215 | c.341 others(2232): Show |
VNN1 | ENSG00000112299.8 | transcript | ENST00000367928.5 | protein_coding | 2/6 | chr6 | TogoVar | ||||||
ARRDC5_chr19_4885437_4907896 | 4885658 | C | CACTACTG others(2209): Show |
downstream_gene_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 412 | 0.0024 | 2216 | c.*53 others(2227): Show |
ARRDC5 | ENSG00000205784.4 | transcript | ENST00000650722.2 | protein_coding | 4778 | chr19 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25758404 | C | CCACCTGC others(2209): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0007 | a0007c0015 | a0007c0015t0001 | a0007c0015t0001g0026 | 1 | 300 | 0.0033 | 2216 | c.655 others(2235): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2209): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0035 | 1 | 316 | 0.0032 | 2216 | c.44- others(2229): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2209): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0036 | 1 | 316 | 0.0032 | 2216 | c.44- others(2229): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
DEAF1_chr11_639233_700222 | 642854 | A | ACAGGCGG others(2209): Show |
downstream_gene_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0278 | 1 | 345 | 0.0029 | 2216 | c.*16 others(2227): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1378 | chr11 | TogoVar | ||||||
DEAF1_chr11_639233_700222 | 642854 | A | ACAGGCGG others(2209): Show |
downstream_gene_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0291 | 1 | 345 | 0.0029 | 2216 | c.*16 others(2227): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1378 | chr11 | TogoVar | ||||||
DEAF1_chr11_639233_700222 | 642854 | A | ACAGGCGG others(2209): Show |
downstream_gene_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0318 | 1 | 345 | 0.0029 | 2216 | c.*16 others(2227): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1378 | chr11 | TogoVar | ||||||
DRD4_chr11_632269_645706 | 642854 | A | ACAGGCGG others(2209): Show |
downstream_gene_variant | MODIFIER | HG01192.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0050 | 1 | 421 | 0.0024 | 2216 | c.*22 others(2227): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2149 | chr11 | TogoVar | ||||||
DRD4_chr11_632269_645706 | 642854 | A | ACAGGCGG others(2209): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0036 | 2 | 421 | 0.0048 | 2216 | c.*22 others(2227): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2149 | chr11 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2209): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG01993.hp2 others(6): Show |
a0001a0003a0012 | a0001c0005a0003c0014a0003c0015others(1): Show | a0001c0005t0001a0003c0014t0001a0003c0015t0001others(1): Show | a0001c0005t0001g0129a0001c0005t0001g0130a0003c0014t0001g0010others(6): Show | 9 | 294 | 0.0306 | 2216 | c.515 others(2233): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | ||||||
TMEM132D_chr12_129066726_129909025 | 129828818 | A | AGGGAGGA others(2209): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0003 | a0002c0003t0026 | a0002c0003t0026g0093 | 1 | 94 | 0.0106 | 2216 | c.79+ others(2233): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | ||||||
UCKL1_chr20_63934829_63961416 | 63948602 | T | TGTGTGAA others(2209): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270 | 1 | 356 | 0.0028 | 2216 | c.114 others(2233): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
VNN1_chr6_132675849_132719055 | 132706868 | C | CAAAAGAA others(2209): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0126 | 1 | 418 | 0.0024 | 2216 | c.341 others(2233): Show |
VNN1 | ENSG00000112299.8 | transcript | ENST00000367928.5 | protein_coding | 2/6 | chr6 | TogoVar | ||||||
VNN1_chr6_132675849_132719055 | 132706868 | C | CAAAAGAA others(2209): Show |
intron_variant | MODIFIER | HG01070.hp2 HG02630.hp2 HG02723.hp1 others(2): Show |
a0003a0004 | a0003c0003a0004c0004 | a0003c0003t0003a0004c0004t0003 | a0003c0003t0003g0079a0004c0004t0003g0040a0004c0004t0003g0128others(1): Show | 5 | 418 | 0.0120 | 2216 | c.341 others(2233): Show |
VNN1 | ENSG00000112299.8 | transcript | ENST00000367928.5 | protein_coding | 2/6 | chr6 | TogoVar | ||||||
VNN1_chr6_132675849_132719055 | 132706868 | C | CAAAAGAA others(2209): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0004 | a0004c0004 | a0004c0004t0014 | a0004c0004t0014g0127 | 1 | 418 | 0.0024 | 2216 | c.341 others(2233): Show |
VNN1 | ENSG00000112299.8 | transcript | ENST00000367928.5 | protein_coding | 2/6 | chr6 | TogoVar | ||||||
ARRDC5_chr19_4885437_4907896 | 4885658 | C | CACTACTG others(2210): Show |
downstream_gene_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 412 | 0.0024 | 2217 | c.*53 others(2228): Show |
ARRDC5 | ENSG00000205784.4 | transcript | ENST00000650722.2 | protein_coding | 4778 | chr19 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647402 | C | CCCTCCTC others(2210): Show |
downstream_gene_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0033 | 1 | 276 | 0.0036 | 2217 | c.*52 others(2228): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2058 | chr15 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647402 | C | CCCTCCTC others(2210): Show |
downstream_gene_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0061 | 1 | 276 | 0.0036 | 2217 | c.*52 others(2228): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2058 | chr15 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 126947813 | G | GTGGTGGT others(2210): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0069 | a0001c0069t0008 | a0001c0069t0008g0112 | 1 | 136 | 0.0074 | 2217 | c.47- others(2234): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
NTM_chr11_131365615_132341822 | 131680807 | G | GTGTCTGT others(2210): Show |
intron_variant | MODIFIER | HG02145.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0081a0001c0001t0007g0059 | 2 | 86 | 0.0233 | 2217 | c.83- others(2236): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PNPLA7_chr9_137454952_137555402 | 137502685 | A | AGGGGGAT others(2210): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0008 | a0008c0014 | a0008c0014t0001 | a0008c0014t0001g0163 | 1 | 188 | 0.0053 | 2217 | c.147 others(2234): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168594316 | G | GGGCATCT others(2210): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0044 | 1 | 180 | 0.0056 | 2217 | c.638 others(2234): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | chr6 | TogoVar | ||||||
CCDC6_chr10_59783747_59911556 | 59882026 | C | CGGGGAGA others(2211): Show |
intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0097 | 1 | 288 | 0.0035 | 2218 | c.303 others(2237): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706349 | G | GATAGATA others(2211): Show |
upstream_gene_variant | MODIFIER | HG01175.hp1 | a0004 | a0004c0014 | a0004c0014t0008 | a0004c0014t0008g0291 | 1 | 369 | 0.0027 | 2218 | c.-50 others(2229): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4851 | chr4 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276306 | T | TGTGTGTG others(2211): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0005 | a0005c0006 | a0005c0006t0002 | a0005c0006t0002g0098 | 1 | 390 | 0.0026 | 2218 | c.972 others(2231): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
KCNJ1_chr11_128833020_128872296 | 128868081 | A | AATATAAT others(2211): Show |
upstream_gene_variant | MODIFIER | HG03491.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 | 2 | 301 | 0.0066 | 2218 | c.-11 others(2229): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 786 | chr11 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196811201 | C | CCCTTCCC others(2211): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0033 | 1 | 178 | 0.0056 | 2218 | c.773 others(2233): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
TMEM120B_chr12_121707752_121787068 | 121747431 | G | GCTGGGGT others(2211): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0072 | a0001c0001t0072g0100 | 1 | 314 | 0.0032 | 2218 | c.189 others(2233): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ULK1_chr12_131889622_131928150 | 131917308 | G | GCTGTGGG others(2211): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0220 | 1 | 344 | 0.0029 | 2218 | c.218 others(2235): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | chr12 | TogoVar | ||||||
VNN1_chr6_132675849_132719055 | 132706868 | C | CAAAAGAA others(2211): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0133 | 1 | 418 | 0.0024 | 2218 | c.341 others(2235): Show |
VNN1 | ENSG00000112299.8 | transcript | ENST00000367928.5 | protein_coding | 2/6 | chr6 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46293666 | G | GCAAGTTA others(2211): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0266 | 1 | 404 | 0.0025 | 2218 | c.339 others(2235): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CCDC77_chr12_396644_447642 | 422064 | C | CCTCCATG others(2212): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0356 | 1 | 432 | 0.0023 | 2219 | c.413 others(2236): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
GPIHBP1_chr8_143208218_143222170 | 143218345 | C | CCCAACAC others(2212): Show |
downstream_gene_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0004 | 1 | 106 | 0.0094 | 2219 | c.*28 others(2230): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1176 | chr8 | TogoVar |