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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NXN_chr17_794310_984776 | 841443 | T | TCCCCCCG others(690): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0184 | 1 | 165 | 0.0061 | 697 | c.361 others(716): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196811232 | T | TCCCTCCC others(690): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0019 | 1 | 148 | 0.0068 | 697 | c.773 others(712): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 495014 | G | GGGAGGAT others(690): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02559.hp2 HG02615.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0027 a0001c0001t0013g0030 a0001c0001t0013g0034 others(1): Show |
4 | 22 | 0.1818 | 697 | c.126 others(716): 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(690): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0031 a0001c0001t0013g0032 |
2 | 20 | 0.1000 | 697 | c.126 others(716): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RBBP8_chr18_22928328_23031486 | 23022668 | T | TAAAATAA others(690): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0268 | 1 | 321 | 0.0031 | 697 | c.259 others(714): Show |
RBBP8 | ENSG00000101773.19 | transcript | ENST00000327155.10 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
RFX2_chr19_5988164_6115500 | 6070181 | A | ATGGGATG others(690): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 287 | 0.0035 | 697 | c.-8- others(714): Show |
RFX2 | ENSG00000087903.13 | transcript | ENST00000303657.10 | protein_coding | 1/17 | chr19 | TogoVar | |||||||
SCARB1_chr12_124771856_124868864 | 124840024 | C | CACATGGG others(690): Show |
intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0234 | 1 | 21 | 0.0476 | 697 | c.127 others(716): Show |
SCARB1 | ENSG00000073060.17 | transcript | ENST00000261693.11 | protein_coding | 1/12 | chr12 | TogoVar | |||||||
SCARB1_chr12_124771856_124868864 | 124840024 | C | CACATGGG others(690): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0260 | 1 | 21 | 0.0476 | 697 | c.127 others(716): Show |
SCARB1 | ENSG00000073060.17 | transcript | ENST00000261693.11 | protein_coding | 1/12 | chr12 | TogoVar | |||||||
SMIM36_chr17_55444856_55516452 | 55501118 | C | CATATTTT others(690): Show |
intron_variant | MODIFIER | NA18946.hp2 NA18999.hp1 NA19002.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0075 others(2): Show |
5 | 11 | 0.4545 | 697 | c.*17 others(716): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
SNX9_chr6_157818246_157950077 | 157827466 | C | CATATATT others(690): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 82 | 0.0122 | 697 | c.12+ others(712): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | chr6 | TogoVar | |||||||
SULF2_chr20_47652406_47790481 | 47670707 | G | GGGGGTGG others(690): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0210 | 1 | 4 | 0.2500 | 697 | c.157 others(716): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 11/20 | chr20 | TogoVar | |||||||
TBXAS1_chr7_139824264_140025293 | 139950664 | A | ACCCTCCA others(690): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 127 | 0.0079 | 697 | c.451 others(714): Show |
TBXAS1 | ENSG00000059377.19 | transcript | ENST00000448866.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1273643 | C | CAACCGCC others(690): Show |
intron_variant | MODIFIER | NA18966.hp1 NA19012.hp1 NA19068.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 others(1): Show |
4 | 107 | 0.0374 | 697 | c.228 others(716): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
TGM2_chr20_38122385_38170270 | 38124011 | T | TATAATAT others(690): Show |
downstream_gene_variant | MODIFIER | NA18970.hp2 NA19002.hp2 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0215 a0001c0001t0001g0216 |
3 | 319 | 0.0094 | 697 | c.*62 others(708): Show |
TGM2 | ENSG00000198959.12 | transcript | ENST00000361475.7 | protein_coding | 3373 | chr20 | TogoVar | |||||||
TH_chr11_2158929_2176815 | 2161579 | G | GACCCCTG others(690): Show |
downstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0004 | 1 | 294 | 0.0034 | 697 | c.*26 others(708): Show |
TH | ENSG00000180176.15 | transcript | ENST00000352909.8 | protein_coding | 2349 | chr11 | TogoVar | |||||||
TH_chr11_2158929_2176815 | 2161650 | G | GACCCCTG others(690): Show |
downstream_gene_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0103 | 1 | 292 | 0.0034 | 697 | c.*25 others(708): Show |
TH | ENSG00000180176.15 | transcript | ENST00000352909.8 | protein_coding | 2278 | chr11 | TogoVar | |||||||
TMEM255B_chr13_113754226_113821995 | 113817328 | C | CGGGACAC others(690): Show |
downstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0009 | a0001c0009t0025 | a0001c0009t0025g0116 | 1 | 167 | 0.0060 | 697 | c.*54 others(708): Show |
TMEM255B | ENSG00000184497.13 | transcript | ENST00000375353.5 | protein_coding | 334 | chr13 | TogoVar | |||||||
TMPRSS9_chr19_2355265_2431261 | 2377639 | C | CTCTCCCC others(690): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0022 | a0022c0023 | a0022c0023t0002 | a0022c0023t0002g0013 | 1 | 10 | 0.1000 | 697 | c.-25 others(716): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TNFSF13B_chr13_108264718_108313478 | 108278578 | C | CTCCTCCT others(690): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0047 | 1 | 8 | 0.1250 | 697 | c.424 others(714): Show |
TNFSF13B | ENSG00000102524.12 | transcript | ENST00000375887.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TRIM2_chr4_153199443_153344317 | 153222046 | A | AGGAGGGA others(690): Show |
intron_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0165 | 1 | 261 | 0.0038 | 697 | c.30+ others(714): Show |
TRIM2 | ENSG00000109654.16 | transcript | ENST00000338700.10 | protein_coding | 1/11 | chr4 | TogoVar | |||||||
TUBGCP5_chr15_22994177_23044569 | 23042962 | G | GGACATCA others(690): Show |
upstream_gene_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0016 | 1 | 305 | 0.0033 | 697 | c.-34 others(708): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 3394 | chr15 | TogoVar | |||||||
TUBGCP5_chr15_22994177_23044569 | 23042962 | G | GGACATCA others(690): Show |
upstream_gene_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0113 | 1 | 305 | 0.0033 | 697 | c.-34 others(708): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 3394 | chr15 | TogoVar | |||||||
VCX3B_chrX_8459830_8471510 | 8467389 | A | AATAGGTG others(690): Show |
downstream_gene_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0042 | a0001c0042t0001 | a0001c0042t0001g0011 | 1 | 208 | 0.0048 | 697 | c.*10 others(708): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 880 | chrX | TogoVar | |||||||
ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(690): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 100 | 0.0100 | 697 | c.-10 others(714): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | |||||||
ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(690): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01070.hp1 HG01070.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0021a0001c0001t0026 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0106 others(6): Show |
12 | 111 | 0.1081 | 697 | c.-10 others(714): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1153808 | A | ACGGGAGG others(691): Show |
intron_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0207 | 1 | 188 | 0.0053 | 698 | c.61+ others(715): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ACOT13_chr6_24662077_24710046 | 24683759 | T | TTCTAATT others(691): Show |
intron_variant | MODIFIER | HG03471.hp2 HG03579.hp2 HG06807.hp2 |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0027a0001c0002t0032 | a0001c0002t0005g0281 a0001c0002t0027g0276 a0001c0002t0032g0258 |
3 | 72 | 0.0417 | 698 | c.82- others(715): Show |
ACOT13 | ENSG00000112304.11 | transcript | ENST00000230048.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ACOT13_chr6_24662077_24710046 | 24683759 | T | TTCTAATT others(691): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01081.hp1 HG01433.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0009a0001c0002t0008 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0179 others(11): Show |
22 | 91 | 0.2418 | 698 | c.82- others(715): Show |
ACOT13 | ENSG00000112304.11 | transcript | ENST00000230048.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ACOT13_chr6_24662077_24710046 | 24683759 | T | TTCTAATT others(691): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0254 | 1 | 70 | 0.0143 | 698 | c.82- others(715): Show |
ACOT13 | ENSG00000112304.11 | transcript | ENST00000230048.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ACOT13_chr6_24662077_24710046 | 24683759 | T | TTCTAATT others(691): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02109.hp2 HG02257.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0009others(3): Show | a0001c0001t0002g0123 a0001c0001t0006g0161 a0001c0001t0009g0026 others(8): Show |
13 | 82 | 0.1585 | 698 | c.82- others(715): Show |
ACOT13 | ENSG00000112304.11 | transcript | ENST00000230048.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ACOT13_chr6_24662077_24710046 | 24683759 | T | TTCTACTT others(691): Show |
intron_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0050 | 1 | 70 | 0.0143 | 698 | c.82- others(715): Show |
ACOT13 | ENSG00000112304.11 | transcript | ENST00000230048.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ACOT13_chr6_24662077_24710046 | 24683759 | T | TTCTACTT others(691): Show |
intron_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0068 | 1 | 70 | 0.0143 | 698 | c.82- others(715): Show |
ACOT13 | ENSG00000112304.11 | transcript | ENST00000230048.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTATA others(691): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0154 | 1 | 30 | 0.0333 | 698 | c.505 others(717): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113424685 | T | TATCCACC others(691): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0002 | a0002c0002 | a0002c0002t0076 | a0002c0002t0076g0020 | 1 | 7 | 0.1429 | 698 | c.775 others(713): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 5/7 | chr13 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113424685 | T | TATCCACC others(691): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 7 | 0.1429 | 698 | c.775 others(713): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 5/7 | chr13 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113424685 | T | TATCCACC others(691): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0002 | a0002c0003 | a0002c0003t0020 | a0002c0003t0020g0243 | 1 | 7 | 0.1429 | 698 | c.775 others(713): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 5/7 | chr13 | TogoVar | |||||||
ARHGEF7_chr13_111110310_111310732 | 111221362 | T | TCTATATA others(691): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0244 | 1 | 272 | 0.0037 | 698 | c.670 others(715): Show |
ARHGEF7 | ENSG00000102606.20 | transcript | ENST00000646102.2 | protein_coding | 5/21 | chr13 | TogoVar | |||||||
CECR2_chr22_17364460_17563151 | 17431991 | T | TTTTGCCC others(691): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0051 | 1 | 322 | 0.0031 | 698 | c.127 others(717): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(691): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0100 | a0001c0001t0100g0085 | 1 | 2 | 0.5000 | 698 | c.162 others(719): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240923992 | C | CCCCAACA others(691): Show |
intron_variant | MODIFIER | NA18965.hp2 | a0054 | a0054c0066 | a0054c0066t0002 | a0054c0066t0002g0326 | 1 | 320 | 0.0031 | 698 | c.488 others(715): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CTDP1_chr18_79674803_79759503 | 79691956 | T | TGGGGAGG others(691): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0185 | 1 | 375 | 0.0027 | 698 | c.315 others(715): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CUL4A_chr13_113204613_113272108 | 113232201 | C | CGCCCACC others(691): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0285 | 1 | 327 | 0.0031 | 698 | c.513 others(713): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
DCDC2_chr6_24166755_24363059 | 24238175 | A | AGGGAGGG others(691): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0003 | a0003c0006 | a0003c0006t0005 | a0003c0006t0005g0067 | 1 | 97 | 0.0103 | 698 | c.923 others(717): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | |||||||
DLEC1_chr3_38034208_38129025 | 38084503 | G | GGTAGTAG others(691): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0240 | 1 | 294 | 0.0034 | 698 | c.126 others(715): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89619039 | T | TGCTCCCC others(691): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0233 | 1 | 155 | 0.0065 | 698 | c.-10 others(717): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
EBF2_chr8_25836725_26050413 | 26005387 | A | ATATAATA others(691): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG00621.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0002g0062 a0001c0001t0002g0084 a0001c0001t0003g0168 others(16): Show |
19 | 110 | 0.1727 | 698 | c.551 others(717): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 6/15 | chr8 | TogoVar | |||||||
FERMT1_chr20_6069845_6128030 | 6125413 | C | CTGTCCTA others(691): Show |
upstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0174 | 1 | 356 | 0.0028 | 698 | c.-26 others(709): Show |
FERMT1 | ENSG00000101311.17 | transcript | ENST00000217289.9 | protein_coding | 2384 | chr20 | TogoVar | |||||||
FRYL_chr4_48492357_48785279 | 48659844 | A | AGGAGAAG others(691): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0237 | 1 | 277 | 0.0036 | 698 | c.-81 others(717): Show |
FRYL | ENSG00000075539.15 | transcript | ENST00000358350.9 | protein_coding | 3/63 | chr4 | TogoVar | |||||||
GAS6_chr13_113815549_113869076 | 113842064 | G | GCCCCCAG others(691): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0010 | 1 | 95 | 0.0105 | 698 | c.344 others(715): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 4/14 | chr13 | TogoVar | |||||||
GPR173_chrX_53043789_53085615 | 53073906 | T | TATATAAA others(691): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 95 | 0.0105 | 698 | c.-97 others(715): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar |