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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2162): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0181 | 1 | 8 | 0.1250 | 2169 | c.-56 others(2188): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2162): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0185 | 1 | 8 | 0.1250 | 2169 | c.-56 others(2188): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATATT others(2162): Show |
upstream_gene_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0003 | a0002c0003t0014 | a0002c0003t0014g0032 | 1 | 8 | 0.1250 | 2169 | c.-20 others(2180): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(2162): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 43 | 0.0233 | 2169 | c.-12 others(2190): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(2162): Show |
intron_variant | MODIFIER | HG02723.hp1 HG03041.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0016a0002c0003t0003 | a0001c0001t0016g0065 a0002c0003t0003g0064 |
2 | 44 | 0.0455 | 2169 | c.-12 others(2190): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCATCCAC others(2162): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0002 | a0001c0002t0037 | a0001c0002t0037g0200 | 1 | 2 | 0.5000 | 2169 | c.438 others(2186): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 357220 | G | GGAGTGGA others(2163): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0002 | a0002c0002 | a0002c0002t0042 | a0002c0002t0042g0166 | 1 | 202 | 0.0050 | 2170 | c.244 others(2187): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C1orf167_chr1_11757193_11794585 | 11770151 | T | TTAAATTT others(2163): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0022 | a0022c0028 | a0022c0028t0001 | a0022c0028t0001g0248 | 1 | 312 | 0.0032 | 2170 | c.169 others(2189): Show |
C1orf167 | ENSG00000215910.8 | transcript | ENST00000688073.1 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C1orf167_chr1_11757193_11794585 | 11770151 | T | TTAAATTT others(2163): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0306 | 1 | 312 | 0.0032 | 2170 | c.169 others(2189): Show |
C1orf167 | ENSG00000215910.8 | transcript | ENST00000688073.1 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C1orf167_chr1_11757193_11794585 | 11770151 | T | TTAAATTT others(2163): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0284 | 1 | 312 | 0.0032 | 2170 | c.169 others(2189): Show |
C1orf167 | ENSG00000215910.8 | transcript | ENST00000688073.1 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C1orf167_chr1_11757193_11794585 | 11770151 | T | TTAAATTT others(2163): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0307 | 1 | 312 | 0.0032 | 2170 | c.169 others(2189): Show |
C1orf167 | ENSG00000215910.8 | transcript | ENST00000688073.1 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C1orf167_chr1_11757193_11794585 | 11770151 | T | TTAAATTT others(2163): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0035 | 1 | 312 | 0.0032 | 2170 | c.169 others(2189): Show |
C1orf167 | ENSG00000215910.8 | transcript | ENST00000688073.1 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C1orf167_chr1_11757193_11794585 | 11770151 | T | TTAAATTT others(2163): Show |
intron_variant | MODIFIER | NA19067.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0208 | 1 | 312 | 0.0032 | 2170 | c.169 others(2189): Show |
C1orf167 | ENSG00000215910.8 | transcript | ENST00000688073.1 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239412305 | T | TCCTCCCT others(2163): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0051 | 1 | 2 | 0.5000 | 2170 | c.-52 others(2191): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706357 | C | CATAGATA others(2163): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0005 | a0005c0004 | a0005c0004t0004 | a0005c0004t0004g0025 | 1 | 171 | 0.0058 | 2170 | c.228 others(2187): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706437 | G | GATACATA others(2163): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0057 | 1 | 230 | 0.0043 | 2170 | c.228 others(2187): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706433 | G | GATAGATA others(2163): Show |
upstream_gene_variant | MODIFIER | HG03834.hp1 | a0007 | a0007c0026 | a0007c0026t0001 | a0007c0026t0001g0356 | 1 | 322 | 0.0031 | 2170 | c.-49 others(2181): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4767 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706437 | G | GATACATA others(2163): Show |
upstream_gene_variant | MODIFIER | HG03710.hp2 | a0051 | a0051c0043 | a0051c0043t0007 | a0051c0043t0007g0215 | 1 | 293 | 0.0034 | 2170 | c.-49 others(2181): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4763 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706437 | G | GATACATA others(2163): Show |
upstream_gene_variant | MODIFIER | NA18977.hp2 | a0055 | a0055c0111 | a0055c0111t0003 | a0055c0111t0003g0224 | 1 | 293 | 0.0034 | 2170 | c.-49 others(2181): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4763 | chr4 | TogoVar | |||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2163): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0192 | 1 | 4 | 0.2500 | 2170 | c.972 others(2183): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2163): Show |
intron_variant | MODIFIER | HG02004.hp2 HG02055.hp1 HG02145.hp1 others(12): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0008a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0014a0001c0008t0001others(12): Show | a0001c0001t0001g0116 a0001c0001t0014g0114 a0001c0008t0001g0108 others(12): Show |
15 | 65 | 0.2308 | 2170 | c.183 others(2187): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2163): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0196 | 1 | 8 | 0.1250 | 2170 | c.-56 others(2189): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2163): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01516.hp2 HG01517.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0004 a0001c0001t0006g0197 a0001c0001t0006g0274 |
4 | 11 | 0.3636 | 2170 | c.-56 others(2189): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2163): Show |
intron_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0179 | 1 | 8 | 0.1250 | 2170 | c.-56 others(2189): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1222879 | C | CTGGAGGT others(2163): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 177 | 0.0056 | 2170 | c.719 others(2189): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
C1orf167_chr1_11757193_11794585 | 11770151 | T | TTAAATTT others(2164): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0300 | 1 | 312 | 0.0032 | 2171 | c.169 others(2190): Show |
C1orf167 | ENSG00000215910.8 | transcript | ENST00000688073.1 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C1orf167_chr1_11757193_11794585 | 11770151 | T | TTAAATTT others(2164): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0048 | a0048c0042 | a0048c0042t0001 | a0048c0042t0001g0299 | 1 | 312 | 0.0032 | 2171 | c.169 others(2190): Show |
C1orf167 | ENSG00000215910.8 | transcript | ENST00000688073.1 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C1orf167_chr1_11757193_11794585 | 11770151 | T | TTAAATTT others(2164): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0025 | a0025c0023 | a0025c0023t0001 | a0025c0023t0001g0262 | 1 | 312 | 0.0032 | 2171 | c.169 others(2190): Show |
C1orf167 | ENSG00000215910.8 | transcript | ENST00000688073.1 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C1orf167_chr1_11757193_11794585 | 11770151 | T | TTAAATTT others(2164): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0199 | 1 | 312 | 0.0032 | 2171 | c.169 others(2190): Show |
C1orf167 | ENSG00000215910.8 | transcript | ENST00000688073.1 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CRTC1_chr19_18678680_18787333 | 18724789 | A | AAGACTGT others(2164): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0211 | 1 | 146 | 0.0068 | 2171 | c.127 others(2190): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2164): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0110 | 1 | 4 | 0.2500 | 2171 | c.972 others(2184): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KREMEN1_chr22_29068035_29151820 | 29120329 | T | TGGAAACA others(2164): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0200 | 1 | 336 | 0.0030 | 2171 | c.353 others(2186): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2164): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0180 | 1 | 8 | 0.1250 | 2171 | c.-56 others(2190): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2164): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0192 | 1 | 8 | 0.1250 | 2171 | c.-56 others(2190): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2164): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0198 | 1 | 8 | 0.1250 | 2171 | c.-56 others(2190): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2164): Show |
intron_variant | MODIFIER | NA18940.hp1 NA18999.hp1 NA19067.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0005a0002c0004t0005 | a0001c0001t0005g0176 a0001c0001t0005g0177 a0002c0004t0005g0178 |
3 | 10 | 0.3000 | 2171 | c.-56 others(2190): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2164): Show |
intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0200 | 1 | 8 | 0.1250 | 2171 | c.-56 others(2190): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2164): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0210 | 1 | 8 | 0.1250 | 2171 | c.-56 others(2190): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CCDC6_chr10_59783747_59911556 | 59882003 | T | TGGGGGGA others(2165): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0106 | 1 | 211 | 0.0047 | 2172 | c.303 others(2191): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
EIF3B_chr7_2349827_2385745 | 2377675 | C | CGCGAGCT others(2165): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0095 | 1 | 382 | 0.0026 | 2172 | c.215 others(2189): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2165): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0095 | 1 | 4 | 0.2500 | 2172 | c.972 others(2185): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(2165): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0167 | 1 | 32 | 0.0313 | 2172 | c.218 others(2187): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(2165): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0009 | a0001c0009t0025 | a0001c0009t0025g0282 | 1 | 34 | 0.0294 | 2172 | c.299 others(2187): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(2165): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 43 | 0.0233 | 2172 | c.-12 others(2193): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RIMBP2_chr12_130391133_130721299 | 130646058 | A | ACCACCTG others(2165): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0095 | 1 | 168 | 0.0060 | 2172 | c.-35 others(2193): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2165): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 222 | 0.0090 | 2172 | c.*44 others(2183): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | |||||||
CACNA1C_chr12_2047987_2702950 | 2539206 | G | GAGGAGGG others(2166): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0004 | a0001c0004t0023 | a0001c0004t0023g0033 | 1 | 38 | 0.0263 | 2173 | c.139 others(2194): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12776122 | A | AGACTGTG others(2166): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 9 | 0.1111 | 2173 | c.565 others(2190): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 5/10 | chr10 | TogoVar | |||||||
FOXRED1_chr11_126264154_126283126 | 126276306 | T | TGGTGTGT others(2166): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0180 | 1 | 384 | 0.0026 | 2173 | c.972 others(2186): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173086 | T | TCTCTCCC others(2166): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0004 | a0004c0043 | a0004c0043t0005 | a0004c0043t0005g0126 | 1 | 17 | 0.0588 | 2173 | c.*11 others(2194): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |