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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EML5_chr14_88607431_88797953 | 88684236 | A | ATAAATTT others(2718): Show |
intron_variant | MODIFIER | NA18947.hp2 NA18962.hp2 NA19054.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0261 |
3 | 5 | 0.6000 | 2725 | c.298 others(2742): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 20/43 | chr14 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88684236 | A | ATAAATTT others(2718): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0239 | 1 | 3 | 0.3333 | 2725 | c.298 others(2742): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 20/43 | chr14 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88684236 | A | ATAAATTT others(2718): Show |
intron_variant | MODIFIER | NA18956.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0288 | 1 | 3 | 0.3333 | 2725 | c.298 others(2742): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 20/43 | chr14 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88684236 | A | ATAAATTT others(2718): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01109.hp1 HG03492.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0038 | a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0246 others(2): Show |
5 | 7 | 0.7143 | 2725 | c.298 others(2742): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 20/43 | chr14 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88684236 | A | ATAAATTT others(2718): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0011 | 1 | 3 | 0.3333 | 2725 | c.298 others(2742): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 20/43 | chr14 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88684236 | A | ATAAATTT others(2718): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0220 | 1 | 3 | 0.3333 | 2725 | c.298 others(2742): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 20/43 | chr14 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88684236 | A | ATAAATTT others(2718): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02647.hp1 HG03195.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0006g0218 others(1): Show |
4 | 6 | 0.6667 | 2725 | c.298 others(2742): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 20/43 | chr14 | TogoVar | |||||||
FRMPD3_chrX_107444652_107610251 | 107592724 | T | TGCCCCCC others(2718): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0012 | 1 | 173 | 0.0058 | 2725 | c.144 others(2744): Show |
FRMPD3 | ENSG00000147234.11 | transcript | ENST00000683843.1 | protein_coding | 13/14 | chrX | TogoVar | |||||||
RPS6KA1_chr1_26524761_26580025 | 26562942 | C | CTCTCCTG others(2718): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0080 | 1 | 317 | 0.0032 | 2725 | c.159 others(2744): Show |
RPS6KA1 | ENSG00000117676.14 | transcript | ENST00000374168.7 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RPS6KA1_chr1_26524761_26580025 | 26562942 | C | CTCTCCTG others(2718): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01106.hp2 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0082 a0001c0002t0003g0012 a0001c0002t0003g0077 others(5): Show |
9 | 325 | 0.0277 | 2725 | c.159 others(2744): Show |
RPS6KA1 | ENSG00000117676.14 | transcript | ENST00000374168.7 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RPS6KA1_chr1_26524761_26580025 | 26562942 | C | CTCTCCTG others(2718): Show |
intron_variant | MODIFIER | HG03195.hp1 NA20129.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0136 a0001c0002t0001g0137 |
2 | 318 | 0.0063 | 2725 | c.159 others(2744): Show |
RPS6KA1 | ENSG00000117676.14 | transcript | ENST00000374168.7 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(2718): Show |
intron_variant | MODIFIER | NA18989.hp2 NA19007.hp1 |
a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0154 a0002c0002t0009g0223 |
2 | 50 | 0.0400 | 2725 | c.192 others(2744): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | |||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(2718): Show |
intron_variant | MODIFIER | HG00642.hp2 NA19007.hp2 NA19080.hp1 |
a0002 | a0002c0002a0002c0018 | a0002c0002t0001a0002c0018t0001 | a0002c0002t0001g0030 a0002c0002t0001g0294 a0002c0018t0001g0274 |
3 | 51 | 0.0588 | 2725 | c.192 others(2744): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41649589 | T | TGATCATT others(2718): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0011 | a0011c0011 | a0011c0011t0002 | a0011c0011t0002g0187 a0011c0011t0002g0188 |
2 | 240 | 0.0083 | 2725 | c.461 others(2746): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 37/44 | chr13 | TogoVar | |||||||
A4GNT_chr3_138118713_138137390 | 138126527 | T | TAAAAATT others(2719): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0002 | a0002c0004 | a0002c0004t0013 | a0002c0004t0013g0126 | 1 | 197 | 0.0051 | 2726 | c.409 others(2743): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
AKAP3_chr12_4610518_4654051 | 4633739 | T | TCAGTAGT others(2719): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0223 | 1 | 288 | 0.0035 | 2726 | c.96+ others(2741): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2719): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 50 | 0.0200 | 2726 | c.147 others(2743): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2719): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 2 | 0.5000 | 2726 | c.44- others(2739): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DIPK1A_chr1_92837167_92966462 | 92896358 | A | ACAACTAT others(2719): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0090 | 1 | 196 | 0.0051 | 2726 | c.55- others(2743): Show |
DIPK1A | ENSG00000154511.12 | transcript | ENST00000370310.5 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88684236 | A | ATAAATTT others(2719): Show |
intron_variant | MODIFIER | NA18953.hp2 NA18960.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0039 a0001c0001t0003g0040 |
2 | 4 | 0.5000 | 2726 | c.298 others(2743): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 20/43 | chr14 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88684236 | A | ATAAATTT others(2719): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02886.hp1 HG02922.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0035a0001c0001t0036 | a0001c0001t0023g0195 a0001c0001t0023g0197 a0001c0001t0035g0198 others(1): Show |
4 | 6 | 0.6667 | 2726 | c.298 others(2743): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 20/43 | chr14 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88684236 | A | ATAAATTT others(2719): Show |
intron_variant | MODIFIER | HG02145.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0293 a0001c0001t0026g0294 |
2 | 4 | 0.5000 | 2726 | c.298 others(2743): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 20/43 | chr14 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88684236 | A | ATAAATTT others(2719): Show |
intron_variant | MODIFIER | HG00642.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0295 a0001c0001t0027g0296 |
2 | 4 | 0.5000 | 2726 | c.298 others(2743): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 20/43 | chr14 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88684236 | A | ATAAATTT others(2719): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0298 | 1 | 3 | 0.3333 | 2726 | c.298 others(2743): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 20/43 | chr14 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88684236 | A | ATAAATTT others(2719): Show |
intron_variant | MODIFIER | HG02886.hp2 HG03098.hp1 HG03540.hp2 |
a0001 | a0001c0003a0001c0009 | a0001c0003t0013a0001c0009t0013 | a0001c0003t0013g0299 a0001c0003t0013g0300 a0001c0009t0013g0301 |
3 | 5 | 0.6000 | 2726 | c.298 others(2743): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 20/43 | chr14 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88684236 | A | ATAAATTT others(2719): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0010 | 1 | 3 | 0.3333 | 2726 | c.298 others(2743): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 20/43 | chr14 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88684236 | A | ATAAATTT others(2719): Show |
intron_variant | MODIFIER | HG02451.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 a0001c0001t0001g0201 |
2 | 4 | 0.5000 | 2726 | c.298 others(2743): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 20/43 | chr14 | TogoVar | |||||||
GTF3C6_chr6_110953706_110972872 | 110956985 | T | TAATTATT others(2719): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 284 | 0.0035 | 2726 | c.-17 others(2737): Show |
GTF3C6 | ENSG00000155115.7 | transcript | ENST00000329970.8 | protein_coding | 1720 | chr6 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322912 | T | TATATATA others(2719): Show |
upstream_gene_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 271 | 0.0037 | 2726 | c.-21 others(2737): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2057 | chr21 | TogoVar | |||||||
MED16_chr19_862963_898187 | 879404 | T | TCCCTGGT others(2719): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0056 | 1 | 9 | 0.1111 | 2726 | c.135 others(2743): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196811197 | T | TCCTCCCT others(2719): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0134 | 1 | 87 | 0.0115 | 2726 | c.773 others(2741): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(2719): Show |
intron_variant | MODIFIER | HG00733.hp2 HG02109.hp1 NA18945.hp1 others(2): Show |
a0001a0008 | a0001c0001a0008c0009 | a0001c0001t0003a0008c0009t0003 | a0001c0001t0003g0060 a0001c0001t0003g0222 a0001c0001t0003g0258 others(2): Show |
5 | 53 | 0.0943 | 2726 | c.192 others(2745): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | |||||||
SV2C_chr5_76078383_76338956 | 76191190 | C | CTACACAC others(2719): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0003 | a0003c0004 | a0003c0004t0066 | a0003c0004t0066g0086 | 1 | 150 | 0.0067 | 2726 | c.581 others(2743): Show |
SV2C | ENSG00000122012.14 | transcript | ENST00000502798.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
EML5_chr14_88607431_88797953 | 88684236 | A | ATAAATTT others(2720): Show |
intron_variant | MODIFIER | NA18954.hp2 NA18995.hp1 NA19006.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0043 a0001c0001t0003g0052 a0001c0001t0003g0082 |
3 | 5 | 0.6000 | 2727 | c.298 others(2744): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 20/43 | chr14 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88684236 | A | ATAAATTT others(2720): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0053 | 1 | 3 | 0.3333 | 2727 | c.298 others(2744): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 20/43 | chr14 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88684236 | A | ATAAATTT others(2720): Show |
intron_variant | MODIFIER | HG06807.hp1 NA20129.hp2 |
a0001a0008 | a0001c0001a0008c0011 | a0001c0001t0002a0008c0011t0008 | a0001c0001t0002g0122 a0008c0011t0008g0101 |
2 | 4 | 0.5000 | 2727 | c.298 others(2744): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 20/43 | chr14 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88684236 | A | ATAAATTT others(2720): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0055 | 1 | 3 | 0.3333 | 2727 | c.298 others(2744): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 20/43 | chr14 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88684236 | A | ATAAATTT others(2720): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0041 | 1 | 3 | 0.3333 | 2727 | c.298 others(2744): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 20/43 | chr14 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88684236 | A | ATAAATTT others(2720): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01069.hp1 HG03017.hp2 others(1): Show |
a0001a0011 | a0001c0001a0011c0010 | a0001c0001t0003a0011c0010t0003 | a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0166 others(1): Show |
4 | 6 | 0.6667 | 2727 | c.298 others(2744): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 20/43 | chr14 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88684236 | A | ATAAATTT others(2720): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG00642.hp1 others(25): Show |
a0001a0007 | a0001c0001a0007c0015 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(4): Show | a0001c0001t0001g0280 a0001c0001t0001g0290 a0001c0001t0003g0045 others(25): Show |
28 | 30 | 0.9333 | 2727 | c.298 others(2744): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 20/43 | chr14 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88684236 | A | ATAAATTT others(2720): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01074.hp1 HG01175.hp2 others(15): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0009others(4): Show | a0001c0001t0003g0044 a0001c0001t0003g0048 a0001c0001t0003g0049 others(15): Show |
18 | 20 | 0.9000 | 2727 | c.298 others(2744): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 20/43 | chr14 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88684236 | A | ATAAATTT others(2720): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02280.hp2 HG02572.hp1 others(14): Show |
a0001 | a0001c0003 | a0001c0003t0004a0001c0003t0006a0001c0003t0018others(1): Show | a0001c0003t0004g0305 a0001c0003t0004g0306 a0001c0003t0004g0307 others(14): Show |
17 | 19 | 0.8947 | 2727 | c.298 others(2744): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 20/43 | chr14 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88684236 | A | ATAAATTT others(2720): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0148 | 1 | 3 | 0.3333 | 2727 | c.298 others(2744): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 20/43 | chr14 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88684236 | A | ATAAATTT others(2720): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0302 | 1 | 3 | 0.3333 | 2727 | c.298 others(2744): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 20/43 | chr14 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17876901 | G | GGGAGGTT others(2720): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0164 | 1 | 181 | 0.0055 | 2727 | c.224 others(2746): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
NCAM2_chr21_20993409_21548329 | 21238627 | C | CTTTTTCT others(2720): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0041 | 1 | 132 | 0.0076 | 2727 | c.56- others(2744): Show |
NCAM2 | ENSG00000154654.15 | transcript | ENST00000400546.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(2720): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0054 | a0054c0153 | a0054c0153t0001 | a0054c0153t0001g0239 | 1 | 34 | 0.0294 | 2727 | c.299 others(2742): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(2720): Show |
intron_variant | MODIFIER | HG02300.hp2 HG03927.hp2 NA18941.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0012 | a0002c0002t0001g0054 a0002c0002t0001g0108 a0002c0002t0001g0145 others(4): Show |
7 | 55 | 0.1273 | 2727 | c.192 others(2746): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | |||||||
TRAF5_chr1_211321833_211379946 | 211374660 | T | TCTGTATG others(2720): Show |
3_prime_UTR_variant | MODIFIER | HG03098.hp1 | a0003 | a0003c0003 | a0003c0003t0020 | a0003c0003t0020g0100 | 1 | 322 | 0.0031 | 2727 | c.*19 others(2738): Show |
TRAF5 | ENSG00000082512.15 | transcript | ENST00000261464.10 | protein_coding | 11/11 | 1975 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
UTRN_chr6_144280335_144858034 | 144288550 | T | TTTGATTC others(2720): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0011 | a0001c0011t0014 | a0001c0011t0014g0121 | 1 | 120 | 0.0083 | 2727 | c.-93 others(2744): Show |
UTRN | ENSG00000152818.20 | transcript | ENST00000367545.8 | protein_coding | 1/74 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |