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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NAALADL2_chr3_174854334_175815548 | 175670512 | A | AATTTATA others(463): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0028 | 1 | 64 | 0.0156 | 470 | c.189 others(491): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NCOR2_chr12_124319415_124572612 | 124438778 | C | CAGAGAGA others(463): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0035 | a0001c0035t0005 | a0001c0035t0005g0199 | 1 | 234 | 0.0043 | 470 | c.816 others(485): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 9/48 | chr12 | TogoVar | |||||||
NCOR2_chr12_124319415_124572612 | 124438780 | G | GAGAGAGA others(463): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0011 | a0011c0137 | a0011c0137t0007 | a0011c0137t0007g0155 | 1 | 234 | 0.0043 | 470 | c.816 others(485): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 9/48 | chr12 | TogoVar | |||||||
NCOR2_chr12_124319415_124572612 | 124438780 | G | GAGAGAGA others(463): Show |
intron_variant | MODIFIER | HG01168.hp2 NA20752.hp2 |
a0003 | a0003c0010 | a0003c0010t0002a0003c0010t0081 | a0003c0010t0002g0090 a0003c0010t0081g0234 |
2 | 234 | 0.0086 | 470 | c.816 others(485): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 9/48 | chr12 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTGTAC others(463): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0004 | a0001c0004t0014 | a0001c0004t0014g0208 | 1 | 362 | 0.0028 | 470 | c.-75 others(489): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTGTAC others(463): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0063 | 1 | 362 | 0.0028 | 470 | c.-75 others(489): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
NHLRC4_chr16_562005_574495 | 571084 | T | TGTGTGTG others(463): Show |
downstream_gene_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 424 | 0.0024 | 470 | c.*26 others(481): Show |
NHLRC4 | ENSG00000257108.2 | transcript | ENST00000424439.3 | protein_coding | 1590 | chr16 | TogoVar | |||||||
NHLRC4_chr16_562005_574495 | 571109 | C | CTAGCCTG others(463): Show |
downstream_gene_variant | MODIFIER | HG02970.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0001 | 1 | 424 | 0.0024 | 470 | c.*26 others(481): Show |
NHLRC4 | ENSG00000257108.2 | transcript | ENST00000424439.3 | protein_coding | 1615 | chr16 | TogoVar | |||||||
NHLRC4_chr16_562005_574495 | 571109 | C | CTGGCTAG others(463): Show |
downstream_gene_variant | MODIFIER | HG01515.hp1 HG01517.hp2 HG03491.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 424 | 0.0094 | 470 | c.*26 others(481): Show |
NHLRC4 | ENSG00000257108.2 | transcript | ENST00000424439.3 | protein_coding | 1615 | chr16 | TogoVar | |||||||
NHLRC4_chr16_562005_574495 | 571109 | C | CTGGCTAG others(463): Show |
downstream_gene_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 424 | 0.0024 | 470 | c.*26 others(481): Show |
NHLRC4 | ENSG00000257108.2 | transcript | ENST00000424439.3 | protein_coding | 1615 | chr16 | TogoVar | |||||||
NHLRC4_chr16_562005_574495 | 571109 | C | CTGGCTAG others(463): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 HG00621.hp1 HG00621.hp2 others(48): Show |
a0001a0003a0006 | a0001c0001a0003c0006a0006c0003 | a0001c0001t0001a0001c0001t0012a0001c0001t0016others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0012g0001 others(3): Show |
51 | 424 | 0.1203 | 470 | c.*26 others(481): Show |
NHLRC4 | ENSG00000257108.2 | transcript | ENST00000424439.3 | protein_coding | 1615 | chr16 | TogoVar | |||||||
NHLRC4_chr16_562005_574495 | 571109 | C | CTGGCTAG others(463): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG01069.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 21 | 424 | 0.0495 | 470 | c.*26 others(481): Show |
NHLRC4 | ENSG00000257108.2 | transcript | ENST00000424439.3 | protein_coding | 1615 | chr16 | TogoVar | |||||||
NRDC_chr1_51784210_51883727 | 51852550 | G | GTTTTAAA others(463): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0111 | 1 | 244 | 0.0041 | 470 | c.342 others(489): Show |
NRDC | ENSG00000078618.23 | transcript | ENST00000352171.12 | protein_coding | 1/30 | chr1 | TogoVar | |||||||
NRDC_chr1_51784210_51883727 | 51852550 | G | GTTTTAAA others(463): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0112 | 1 | 244 | 0.0041 | 470 | c.342 others(489): Show |
NRDC | ENSG00000078618.23 | transcript | ENST00000352171.12 | protein_coding | 1/30 | chr1 | TogoVar | |||||||
NRDE2_chr14_90262860_90336941 | 90300885 | G | GGGGAGGG others(463): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0097 | 1 | 344 | 0.0029 | 470 | c.154 others(487): Show |
NRDE2 | ENSG00000119720.18 | transcript | ENST00000354366.8 | protein_coding | 7/13 | chr14 | TogoVar | |||||||
NRDE2_chr14_90262860_90336941 | 90300885 | G | GGGGAGGG others(463): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0002 | a0002c0002 | a0002c0002t0019 | a0002c0002t0019g0054 | 1 | 344 | 0.0029 | 470 | c.154 others(487): Show |
NRDE2 | ENSG00000119720.18 | transcript | ENST00000354366.8 | protein_coding | 7/13 | chr14 | TogoVar | |||||||
NRDE2_chr14_90262860_90336941 | 90300885 | G | GGGGAGGG others(463): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0060 | 1 | 344 | 0.0029 | 470 | c.154 others(487): Show |
NRDE2 | ENSG00000119720.18 | transcript | ENST00000354366.8 | protein_coding | 7/13 | chr14 | TogoVar | |||||||
NRDE2_chr14_90262860_90336941 | 90300885 | G | GGGGAGGG others(463): Show |
intron_variant | MODIFIER | HG00408.hp1 NA18964.hp2 |
a0002 | a0002c0002 | a0002c0002t0020 | a0002c0002t0020g0037 a0002c0002t0020g0042 |
2 | 344 | 0.0058 | 470 | c.154 others(487): Show |
NRDE2 | ENSG00000119720.18 | transcript | ENST00000354366.8 | protein_coding | 7/13 | chr14 | TogoVar | |||||||
OPCML_chr11_132409981_133537501 | 133082514 | C | CTCCCCTC others(463): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0006 | 1 | 68 | 0.0147 | 470 | c.62- others(489): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
OPHN1_chrX_68037344_68438495 | 68326860 | G | GGGGGGGG others(463): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0018 | 1 | 155 | 0.0065 | 470 | c.155 others(489): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196811215 | C | CCTTCCCT others(463): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0006 | a0006c0010 | a0006c0010t0004 | a0006c0010t0004g0037 | 1 | 178 | 0.0056 | 470 | c.773 others(485): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PALLD_chr4_168492052_168933441 | 168793121 | G | GTGTGTGC others(463): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0092 | 1 | 156 | 0.0064 | 470 | c.196 others(491): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCDH11Y_chrY_4995296_5747224 | 5525214 | T | TGGGAGGA others(463): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 115 | 0.0087 | 470 | c.305 others(491): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
PCDH11Y_chrY_4995296_5747224 | 5525214 | T | TGGGAGGA others(463): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0047 | 1 | 115 | 0.0087 | 470 | c.305 others(491): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
PIAS4_chr19_4002736_4044386 | 4011872 | C | CTGTGGGG others(463): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0262 | 1 | 334 | 0.0030 | 470 | c.28- others(485): Show |
PIAS4 | ENSG00000105229.7 | transcript | ENST00000262971.3 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PIAS4_chr19_4002736_4044386 | 4011943 | T | TGGGGTGT others(463): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0296 | 1 | 334 | 0.0030 | 470 | c.28- others(483): Show |
PIAS4 | ENSG00000105229.7 | transcript | ENST00000262971.3 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PIAS4_chr19_4002736_4044386 | 4011943 | T | TGGGGTGT others(463): Show |
intron_variant | MODIFIER | HG01884.hp2 NA20300.hp1 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0260 a0001c0005t0001g0264 |
2 | 334 | 0.0060 | 470 | c.28- others(483): Show |
PIAS4 | ENSG00000105229.7 | transcript | ENST00000262971.3 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(463): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0069 | a0069c0088 | a0069c0088t0009 | a0069c0088t0009g0003 | 1 | 282 | 0.0036 | 470 | c.299 others(485): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
PIGQ_chr16_564968_589109 | 571109 | C | CTAGCCTG others(463): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0135 | 1 | 408 | 0.0025 | 470 | c.-10 others(487): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PIGQ_chr16_564968_589109 | 571109 | C | CTGGCTAG others(463): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0125 | 1 | 408 | 0.0025 | 470 | c.-10 others(487): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PIGQ_chr16_564968_589109 | 571109 | C | CTGGCTAG others(463): Show |
intron_variant | MODIFIER | HG02080.hp1 HG03831.hp1 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0138 a0002c0001t0001g0165 |
2 | 408 | 0.0049 | 470 | c.-10 others(487): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PIGQ_chr16_564968_589109 | 571109 | C | CTGGCTAG others(463): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00621.hp1 HG00621.hp2 others(43): Show |
a0002a0006a0008others(2): Show | a0002c0001a0002c0006a0002c0007others(5): Show | a0002c0001t0001a0002c0001t0005a0002c0001t0011others(9): Show | a0002c0001t0001g0016 a0002c0001t0001g0017 a0002c0001t0001g0019 others(43): Show |
46 | 408 | 0.1128 | 470 | c.-10 others(487): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PIGQ_chr16_564968_589109 | 571109 | C | CTGGCTAG others(463): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01069.hp2 HG01071.hp2 others(13): Show |
a0002a0005a0017 | a0002c0001a0002c0007a0005c0009others(1): Show | a0002c0001t0001a0002c0001t0005a0002c0007t0001others(2): Show | a0002c0001t0001g0022 a0002c0001t0001g0132 a0002c0001t0001g0175 others(11): Show |
16 | 408 | 0.0392 | 470 | c.-10 others(487): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PNMA5_chrX_152983824_152999116 | 152998738 | T | TTTATATA others(463): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0008 | 1 | 286 | 0.0035 | 470 | c.-50 others(481): Show |
PNMA5 | ENSG00000198883.12 | transcript | ENST00000535214.6 | protein_coding | 4623 | chrX | TogoVar | |||||||
PPP2R2D_chr10_131896008_131964834 | 131952196 | C | CAGTGACT others(463): Show |
intron_variant | MODIFIER | NA19009.hp2 NA19080.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0185 a0001c0001t0007g0186 |
2 | 394 | 0.0051 | 470 | c.108 others(489): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2106627 | C | CTCAGCAA others(463): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0100 | 1 | 286 | 0.0035 | 470 | c.335 others(489): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RAB27A_chr15_55197966_55294813 | 55209927 | T | TATATGTG others(463): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0138 | 1 | 320 | 0.0031 | 470 | c.468 others(487): Show |
RAB27A | ENSG00000069974.17 | transcript | ENST00000336787.6 | protein_coding | 6/6 | chr15 | TogoVar | |||||||
RABL6_chr9_136802948_136846187 | 136803215 | G | GGGGCCCC others(463): Show |
upstream_gene_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0261 | 1 | 330 | 0.0030 | 470 | c.-49 others(481): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4732 | chr9 | TogoVar | |||||||
RABL6_chr9_136802948_136846187 | 136803232 | A | AGCCCTCT others(463): Show |
upstream_gene_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 330 | 0.0030 | 470 | c.-49 others(481): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4715 | chr9 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114010763 | G | GGAGGGGA others(463): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 67 | 0.0149 | 470 | c.159 others(487): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 16/23 | chr13 | TogoVar | |||||||
RFC1_chr4_39282456_39371362 | 39348424 | A | AAAAAGAA others(463): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0203 | 1 | 276 | 0.0036 | 470 | c.132 others(487): Show |
RFC1 | ENSG00000035928.17 | transcript | ENST00000349703.7 | protein_coding | 2/24 | chr4 | TogoVar | |||||||
RFX2_chr19_5988164_6115500 | 6069986 | T | TGGATGGG others(463): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02027.hp2 |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0002c0006t0001 | a0001c0001t0001g0253 a0002c0006t0001g0214 |
2 | 308 | 0.0065 | 470 | c.-8- others(487): Show |
RFX2 | ENSG00000087903.13 | transcript | ENST00000303657.10 | protein_coding | 1/17 | chr19 | TogoVar | |||||||
RFX2_chr19_5988164_6115500 | 6070038 | G | GGAATGGG others(463): Show |
intron_variant | MODIFIER | HG02135.hp2 HG02486.hp2 NA18970.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0067 a0002c0002t0001g0194 a0002c0002t0001g0209 |
3 | 308 | 0.0097 | 470 | c.-8- others(487): Show |
RFX2 | ENSG00000087903.13 | transcript | ENST00000303657.10 | protein_coding | 1/17 | chr19 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130660321 | G | GCAGGTGC others(463): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00544.hp2 others(93): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0003others(29): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(35): Show | a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0029 others(93): Show |
96 | 180 | 0.5333 | 470 | c.-35 others(491): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
RNF213_chr17_80255852_80403794 | 80274697 | G | GTGAGTGG others(463): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0006 | a0006c0009 | a0006c0009t0019 | a0006c0009t0019g0272 | 1 | 292 | 0.0034 | 470 | c.261 others(487): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 3/67 | chr17 | TogoVar | |||||||
RSRC1_chr3_158105089_158550730 | 158229041 | C | CACACATA others(463): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027 a0001c0001t0002g0030 |
2 | 276 | 0.0073 | 470 | c.494 others(489): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SAMD12_chr8_118372984_118626963 | 118469545 | T | TATAATAT others(463): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0113 | 1 | 188 | 0.0053 | 470 | c.193 others(489): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 2/3 | chr8 | TogoVar | |||||||
SCARA5_chr8_27864883_27997673 | 27919123 | A | AGAAGAGG others(463): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0018 | a0001c0018t0007 | a0001c0018t0007g0086 | 1 | 314 | 0.0032 | 470 | c.916 others(487): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43339677 | C | CTCTATCC others(463): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0117 | 1 | 280 | 0.0036 | 470 | c.89- others(483): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | |||||||
SLC8A1_chr2_40092270_40457090 | 40200228 | A | ATATATAT others(463): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0113 | a0001c0001t0113g0047 | 1 | 236 | 0.0042 | 470 | c.180 others(491): Show |
SLC8A1 | ENSG00000183023.19 | transcript | ENST00000332839.9 | protein_coding | 2/10 | chr2 | TogoVar |