Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DPH7_chr9_137549444_137583925	137566692	ACTCTGTC others(261): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTG ACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCC CCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18974.hp1 NA18945.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0113 a0001c0001t0001g0114	2	340	0.0059	-268	c.641 others(17): Show c.641-1806_641-1539del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137566722	ACTCTGTC others(261): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTG TGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTG ACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	340	0.0029	-268	c.641 others(17): Show c.641-1836_641-1569del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567630	TGGGTGAC others(261): Show TGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCCGTGAGGA AGCTCCCCGGGGTGACTCTGTCCGTGAGGAAGCTCCCCGGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTG TCTGTGAGGAAGCTCCCCG	T T	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA18950.hp1 NA18951.hp2 others(3): Show HG02080.hp1 NA18950.hp1 NA18951.hp2 NA18975.hp1 NA19010.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0010 a0001c0001t0001g0127 a0001c0001t0001g0128 others(1): Show a0001c0001t0001g0010 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0005t0001g0011	6	340	0.0177	-268	c.641 others(17): Show c.641-2744_641-2477del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
ERFL_chr19_41902704_41933449	41914589	TTCCACCA others(261): Show TTCCACCATCTCTGTCTCTCCCTCCCCTTCCACCATCTCTGTCTCTGTCT CTCCCTCCCTTTCCACCATCTCTGTCTCTCCCTCCCCTTCCACCATCTCT GTCTCTCCCTCCCCTTCCACCATCTCTGTCTCTCCCTCCCCTTCCACCAT CTCTGTCTCTCCCTCCCCTTCCACCGTCTCTGTCTCTCCCTCCCCTTCCA CCGTCTCTGTCTCTCCCTCCCCCTCCACCGTGTCTCCCCCCCTTTCCACC GTCTCTGTCTCTCCCCCCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp2 others(11): Show HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00438.hp1 HG00733.hp2 HG01106.hp2 HG01168.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG03654.hp1 HG04184.hp1 HG04184.hp2 HG06807.hp1	a0000 a0001 a0000 a0001	a0000c0003 a0001c0001 a0000c0003 a0001c0001	a0000c0003t0001 a0001c0001t0001 a0001c0001t0003 a0000c0003t0001 a0001c0001t0001 a0001c0001t0003	a0000c0003t0001g0170 a0001c0001t0001g0005 a0001c0001t0001g0104 others(4): Show a0000c0003t0001g0170 a0001c0001t0001g0005 a0001c0001t0001g0104 a0001c0001t0001g0203 a0001c0001t0003g0002 a0001c0001t0003g0226 a0001c0001t0003g0237	14	330	0.0424	-268	c.-13 others(17): Show c.-13-1925_-13-1658del	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
FOXQ1_chr6_1307098_1319758	1318933	CGGTGGCG others(261): Show CGGTGGCGCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGG ATCACCTGAGTTAGGAAGTTCAAGACTAGCCTGACCAACATGGAGAAACC CCGTCACTACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCACGCCTG TAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGTTAGGA AGTTCAAGACTAGCCTGACCAACATGGAGAAACCCCGTCACTACTAAAAA TACAAAATTAGCCGGGCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 NA18953.hp1 NA18989.hp1 HG01099.hp1 NA18953.hp1 NA18989.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0002c0004t0001 a0001c0001t0002 a0002c0004t0001	a0001c0001t0002g0000 a0002c0004t0001g0000 a0001c0001t0002g0000 a0002c0004t0001g0000	3	406	0.0074	-268	c.50 others(11): Show c.5018_*5285del	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		4176		chr6	TogoVar
FOXQ1_chr6_1307098_1319758	1319345	CGCCTGTA others(261): Show CGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAG TTAGGAAGTTCAAGACTAGCCTGACCAACATGGAGAAACCCCGTCACTAC TAAAAATACAAAATTAGCCGGGCAGCGGTGGCGCACGCCTGTAATCCCAG CACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGTTAGGAAGTTCAAGA CTAGCCTGACCAACATGGAGAAACCCCGTCACTACTAAAAATACAAAATT AGCCGGGCGCGGTGGCGCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp1 NA19090.hp2 NA19009.hp1 NA19090.hp2	a0003 a0003	a0003c0002 a0003c0021 a0003c0002 a0003c0021	a0003c0002t0011 a0003c0021t0003 a0003c0002t0011 a0003c0021t0003	a0003c0002t0011g0000 a0003c0021t0003g0000 a0003c0002t0011g0000 a0003c0021t0003g0000	2	406	0.0049	-268	c.54 others(11): Show c.5430_*5697del	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		4588		chr6	TogoVar
FOXQ1_chr6_1307098_1319758	1319389	CCTGAGTT others(261): Show CCTGAGTTAGGAAGTTCAAGACTAGCCTGACCAACATGGAGAAACCCCGT CACTACTAAAAATACAAAATTAGCCGGGCAGCGGTGGCGCACGCCTGTAA TCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGTTAGGAAGT TCAAGACTAGCCTGACCAACATGGAGAAACCCCGTCACTACTAAAAATAC AAAATTAGCCGGGCGCGGTGGCGCACGCCTGTAATCCCAGCACTTTGGGA GGCCAAGGCGGGTGGATCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0003 a0003c0002t0003	a0003c0002t0003g0000 a0003c0002t0003g0000	1	406	0.0025	-268	c.54 others(11): Show c.5474_*5741del	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		4632		chr6	TogoVar
GAL3ST2_chr2_241771822_241809287	241807299	CTCCCGCC others(261): Show CTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACC CGGGAAGAGCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCC CCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	314	0.0032	-268	c.31 others(11): Show c.3134_*3401del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3013		chr2	TogoVar
GRTP1_chr13_113319163_113369130	113346347	CGGACCCA others(261): Show CGGACCCAGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTG TGGCTGAGCAGACCTGGGAAGACATCTGTGGCCGAGAACAGACCCAGGAG GACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGCCTGACAGTG GACCCGGGAGGACCTCTGTGGCAAAGAGCAGACCCGGGAGGACCTCTGTG GCAAAGAGCAGACCCAGGAGGACCTCTGTGGCCGAGAACAGACCCGGGAG GACCTCTGTGCCTGACAGT	C C	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	288	0.0035	-268	c.466 others(17): Show c.466-1656_466-1389del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346354	AGGAGGAC others(261): Show AGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGA GCAGACCTGGGAAGACATCTGTGGCCGAGAACAGACCCAGGAGGACCTCT GTGGACAAGAGCAGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGG GAGGACCTCTGTGGCAAAGAGCAGACCCGGGAGGACCTCTGTGGCAAAGA GCAGACCCAGGAGGACCTCTGTGGCCGAGAACAGACCCGGGAGGACCTCT GTGCCTGACAGTGGACCCG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0265 a0001c0001t0003g0265	1	288	0.0035	-268	c.466 others(17): Show c.466-1663_466-1396del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346466	AGACCCGG others(261): Show AGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGT GGCAAAGAGCAGACCCGGGAGGACCTCTGTGGCAAAGAGCAGACCCAGGA GGACCTCTGTGGCCGAGAACAGACCCGGGAGGACCTCTGTGCCTGACAGT GGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGT GGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGG ACCTCTGTGGCTGAGAGCG	A A	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	288	0.0035	-268	c.466 others(17): Show c.466-1775_466-1508del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113347411	TGACAGTG others(261): Show TGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCAGACCCAGGAGGA TCTCTGTGGCCGAGAGCAGACCTGGGAGGACCTCTGTGGCCGAGAGCGGA CCCAGGAGCACCTCTGTGGCTGAGCGGATCCGGGAGGACCTCTGTGGCAG AGAGCAGACCCAGGAGGACCTCTGTGGCTGAGAACAGACCCGGGAGGACC TCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCAGATCTG GGAGGACCTCTGTGGCAGA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG00544.hp2 others(50): Show HG00323.hp1 HG00423.hp2 HG00544.hp2 HG00597.hp1 HG00642.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01167.hp1 HG01175.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG02015.hp2 HG02040.hp2 HG02071.hp2 HG02148.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02965.hp2 HG03017.hp1 HG03041.hp1 HG03130.hp2 HG03669.hp2 HG03688.hp2 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18939.hp1 NA18939.hp2 NA18966.hp2 NA18967.hp1 NA19064.hp1 NA19068.hp1 NA19081.hp2 NA20905.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0010	a0001c0001 a0002c0002 a0002c0014 others(2): Show a0001c0001 a0002c0002 a0002c0014 a0006c0006 a0010c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0002c0002t0002 a0002c0014t0001 a0006c0006t0007 a0010c0010t0001	a0001c0001t0001g0064 a0001c0001t0001g0139 a0001c0001t0001g0142 others(50): Show a0001c0001t0001g0064 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0195 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0240 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0262 a0001c0001t0001g0269 a0001c0001t0001g0273 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0002g0280 a0001c0001t0003g0175 a0001c0001t0003g0242 a0001c0001t0003g0265 a0001c0001t0003g0266 a0002c0002t0001g0281 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0002g0282 a0002c0014t0001g0285 a0006c0006t0007g0161 a0010c0010t0001g0276	53	288	0.1840	-268	c.466 others(17): Show c.466-2720_466-2453del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
KIF25_chr6_167992671_168050091	168001869	AAAGACAC others(261): Show AAAGACACCTGAGGCGTGGCCTCGGGCAGGTGAGAAGACACCTGAGGCGT GGCCTCGGGCAGGTGAGAAGACACCTGAGGCGTGGCCGCGGGCAGGTGAG AAGACACCTTCAGGCGTAGCCTCAGGCAGGTGAGAAAGACACCTGAGGCG TGGCCTCGGGCAGGTGAGAAGACACCTGAGGCATGGCCTCGGGCAGGTGA GAAGACACCTTCAGGCGTAGCCTCGGGCAGGTGAGAAAGACACCTGAGGC GTGGCCTCGGGCAGGTGAG	A A	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA18942.hp1 NA18949.hp2 others(1): Show HG02155.hp2 NA18942.hp1 NA18949.hp2 NA19065.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0044 a0003c0004t0005 a0003c0004t0044	a0003c0004t0005g0335 a0003c0004t0005g0336 a0003c0004t0005g0337 others(1): Show a0003c0004t0005g0335 a0003c0004t0005g0336 a0003c0004t0005g0337 a0003c0004t0044g0334	4	375	0.0107	-268	c.-36 others(17): Show c.-369-611_-369-344del	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMA5_chr20_62304065_62372312	62321419	AGGGTCAG others(261): Show AGGGTCAGTGGAGGGGTAGGGCCAGCAGAGGGGTAGGGCCAGCAGAGGGG TGGGGTCAGTGGAGGGGTGGGGTCAGTGGAGGGGTGGGGTCAGTGGAGGC AGGGTCAGTGAAAGGGTGGCGCCAGTGGAGGAAGAGGGGGCCAGTGGAGG CAGGGCCTGTGGAGGGGTGGGGCCAGTGGAGGTGGGGTCAGTGAAGGGGT GGGGCCAGCGGAGGAGGTGCAGCCAGTGGAAGAGGTGGGGCCAATGGGGG TGGGGTCAGTGGAGGGGTG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA18522.hp2 HG01884.hp1 NA18522.hp2	a0025 a0025	a0025c0016 a0025c0016	a0025c0016t0001 a0025c0016t0001	a0025c0016t0001g0029 a0025c0016t0001g0030 a0025c0016t0001g0029 a0025c0016t0001g0030	2	186	0.0108	-268	c.649 others(17): Show c.6496+332_6497-530del	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	48/79			chr20	TogoVar
MAK_chr6_10757723_10843539	10760842	CCATGTTG others(261): Show CCATGTTGGCCAGGCTGGTCTCAACCTCCTGACCTCAGGTGATCCACCCA CCTCGGCCTCTCAAAGTGCTGGGATTACAAGCGTGAGTCACTGCCGCACC TGATCATTCATGCATTCATTCATGCATTCATCTTAGTATGGACTCATGGA TATTTCTTTTTTCTTTGGGTTGTAATACTTATTTTTTTTTTTTTTTTTTT GAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGGTCT CGGCTCACTGCAAGCTCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01243.hp1 HG02486.hp1 others(8): Show HG00735.hp2 HG01243.hp1 HG02486.hp1 HG02723.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG03130.hp2 HG03516.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0002 a0001c0001t0002 a0001c0005t0002	a0001c0001t0002g0016 a0001c0001t0002g0099 a0001c0001t0002g0100 others(8): Show a0001c0001t0002g0016 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0211 a0001c0001t0002g0220 a0001c0001t0002g0226 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0260 a0001c0005t0002g0116	11	272	0.0404	-268	c.33 others(11): Show c.3342_*3609del	MAK	ENSG00000111837.12	transcript	ENST00000354489.7	protein_coding		1880		chr6	TogoVar
MAP3K15_chrX_19355059_19520508	19452118	GAGAAGAG others(261): Show GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAAGAGAAGAGAAGAGA AGAGAAGAGAGAAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp2 HG02809.hp2 others(1): Show HG02258.hp1 HG02451.hp2 HG02809.hp2 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0006 a0002c0002 a0002c0006	a0002c0002t0003 a0002c0002t0005 a0002c0006t0013 others(1): Show a0002c0002t0003 a0002c0002t0005 a0002c0006t0013 a0002c0006t0017	a0002c0002t0003g0026 a0002c0002t0005g0019 a0002c0006t0013g0011 others(1): Show a0002c0002t0003g0026 a0002c0002t0005g0019 a0002c0006t0013g0011 a0002c0006t0017g0031	4	163	0.0245	-268	c.995 others(17): Show c.995+4527_995+4794del	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28			chrX	TogoVar
NDUFAB1_chr16_23576014_23601316	23577414	GGTCTCAC others(261): Show GGTCTCACGATATTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAAATCAA AGTGCTAGGATTAACAGAACAGGCATGAGCCACCATGCCGGGCCTCTCAT GACACTTTTTAAAGTCCAGGCCTTATAAACTCCCACCTTCTGGATTTGTT TCCTCATAATCAGATTCAGGTTAGATGATTTTAGCAAGAGTGCCTCAGAG GTGACATGACCTCAGTGCCTCACATCAGGAGCAGCATAGGAGGTTGACTT GTTGTATCATTGGTGATGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02630.hp2 HG02280.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0212 a0001c0001t0001g0213	2	360	0.0056	-268	c.35 others(11): Show c.3500_*3767del	NDUFAB1	ENSG00000004779.10	transcript	ENST00000007516.8	protein_coding		3599		chr16	TogoVar
NEU4_chr2_241804193_241822413	241807227	CCTCAGCC others(261): Show CCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAG GAACCTCCGCAGGCCACCTTCCCTCCCGCCTCAGCCCAGGGACCTCCGCA GGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCC CTCCCCCCTCACGCCAGGGACCCGGGAAGAGCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCTTCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0011 a0001c0004t0001g0011	1	319	0.0031	-268	c.-20 others(11): Show c.-2050_-1783del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1965		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807257	TCCCTCCC others(261): Show TCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCGCC TCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGA GCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAACC CAGGGACCTCCGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0195 a0002c0003t0002g0195	1	319	0.0031	-268	c.-20 others(11): Show c.-2020_-1753del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1935		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807299	CTCCCGCC others(261): Show CTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACC CGGGAAGAGCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCC CCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	319	0.0031	-268	c.-19 others(11): Show c.-1978_-1711del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1893		chr2	TogoVar
NXN_chr17_794310_984776	894052	TCCCTGGA others(261): Show TCCCTGGAAGCCAGAGGAAGCATCTCAACTCCCTGGAAGCCAGAGGAAGC ATCTCAACTCCCTGGAAGCCAGAGGAAGCATCTCAAACGCCCTGGAAGCC AGAGGAAGCATCTCAAACGCCCTGGAAGCCAGAGGAAGCATCTCAAACGC CCTGGAAGCCAGAGGAAGCATCTCAAACGCCCTGGAAGCCAGAGGAAGCA TCTCAAACGCCCTGGAAGCCAGAGGAAGCATCTCAAACGCCCTGGAAGCC AGAGGAAGCATCTCAAACG	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01070.hp2 HG01081.hp2 others(23): Show HG00642.hp1 HG01070.hp2 HG01081.hp2 HG01257.hp2 HG01258.hp2 HG01884.hp1 HG02145.hp1 HG02155.hp2 HG02486.hp2 HG02622.hp2 HG02809.hp2 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03491.hp1 HG03516.hp2 HG03704.hp2 HG03927.hp2 HG04204.hp1 NA18906.hp2 NA18952.hp2 NA19007.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0005 a0001c0001 a0001c0004 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0023 a0001c0001t0027 a0001c0004t0002 a0002c0005t0009	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0118 others(23): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0118 a0001c0001t0001g0177 a0001c0001t0001g0201 a0001c0001t0001g0231 a0001c0001t0002g0056 a0001c0001t0003g0065 a0001c0001t0003g0085 a0001c0001t0003g0175 a0001c0001t0003g0198 a0001c0001t0003g0205 a0001c0001t0003g0210 a0001c0001t0005g0132 a0001c0001t0005g0209 a0001c0001t0006g0099 a0001c0001t0006g0100 a0001c0001t0006g0144 a0001c0001t0006g0172 a0001c0001t0007g0073 a0001c0001t0012g0018 a0001c0001t0012g0066 a0001c0001t0023g0052 a0001c0001t0027g0010 a0001c0004t0002g0232 a0002c0005t0009g0199	26	242	0.1074	-268	c.361 others(19): Show c.361-68242_361-67975del	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PDZRN4_chr12_41183320_41579745	41402334	TGTATATA others(261): Show TGTATATATATATATACACACAGTGTGTATATATATATATACACACACTG TGTATATATATATATACACACAGTGTGTATATATATATATACACACACAG TGTATATATATATATATACACACTCTGTGTGTATATATATATATACACAC AGGGTGTATATATATATATATATACGCTGTGTGTATATATATATATATAC TGAGTGTATACATATATATATATATACTGAGTATATATATATATATATAT ATATATACTGAGTATATAC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03209.hp1 HG03579.hp1 HG03195.hp1 HG03209.hp1 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0044 a0002c0017 a0002c0061 a0001c0044 a0002c0017 a0002c0061	a0001c0044t0001 a0002c0017t0002 a0002c0061t0001 a0001c0044t0001 a0002c0017t0002 a0002c0061t0001	a0001c0044t0001g0107 a0002c0017t0002g0091 a0002c0061t0001g0100 a0001c0044t0001g0107 a0002c0017t0002g0091 a0002c0061t0001g0100	3	206	0.0146	-268	c.844 others(21): Show c.844-104121_844-103854del	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9			chr12	TogoVar
RAN_chr12_130867066_130882678	130882172	CGCCTCCT others(261): Show CGCCTCCTCTATCACCACAGATCCGCGTAGCCTGCATCACTGATCTCACC TCTAGGTACTCCTGAGAACTCCTCCTCCGTCTGTGGATCTGCGTGGTCTC CATCACTGATCTCACCTCTAGGTACTCCCGAGAGTGCCTCCTCCATCACC ACAGATCCGCGTAGCCTGCATCACTGATCTCACCTCTAGGTACTCCTGAG AACTCCTCCTCCGTCTGTGGATCTGCGTGGTCTCCATCACTGATCTCACC TCTAGGTACTCCCGAGAGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	426	0.0024	-268	c.62 others(11): Show c.6247_*6514del	RAN	ENSG00000132341.12	transcript	ENST00000543796.6	protein_coding		4495		chr12	TogoVar
RAN_chr12_130867066_130882678	130882181	TATCACCA others(261): Show TATCACCACAGATCCGCGTAGCCTGCATCACTGATCTCACCTCTAGGTAC TCCTGAGAACTCCTCCTCCGTCTGTGGATCTGCGTGGTCTCCATCACTGA TCTCACCTCTAGGTACTCCCGAGAGTGCCTCCTCCATCACCACAGATCCG CGTAGCCTGCATCACTGATCTCACCTCTAGGTACTCCTGAGAACTCCTCC TCCGTCTGTGGATCTGCGTGGTCTCCATCACTGATCTCACCTCTAGGTAC TCCCGAGAGTGCCTCCTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02886.hp2 HG02965.hp2 others(6): Show HG02451.hp1 HG02886.hp2 HG02965.hp2 HG02976.hp1 HG03471.hp1 HG03486.hp2 HG03540.hp1 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010	a0001c0001t0001g0001 a0001c0001t0004g0005 a0001c0001t0007g0006 others(1): Show a0001c0001t0001g0001 a0001c0001t0004g0005 a0001c0001t0007g0006 a0001c0001t0010g0014	9	426	0.0211	-268	c.62 others(11): Show c.6256_*6523del	RAN	ENSG00000132341.12	transcript	ENST00000543796.6	protein_coding		4504		chr12	TogoVar
RGPD8_chr2_112363369_112438645	112432919	CTCGGGAG others(261): Show CTCGGGAGCCATGACCCCTGACCCATCGAGGCCGCCGCCGGGCCGGGTCG AGGCCGCCGCCTCAACAGAGCGCGCCAGGGAGCAGCGCCCTCGGGAGCCA TGACCCCTGACCCATCGAGGCCGCCCCCGGGCCGGGTCGAGGCCGCCGCC TCAACAGAGCGCGCCAGGGAGCAGCGCCCTCGGGAGCCATGACCCCTGAC CCATCGAGGCCGCCGCCGGGCCGGGTCGAGGCCGCCGCCTCAACAGAGCG CGCCAGGGAGCAGCGCCCG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0234 a0002c0002t0001g0234	1	254	0.0039	-268	c.72+ others(13): Show c.72+195_72+462del	RGPD8	ENSG00000169629.12	transcript	ENST00000302558.8	protein_coding	1/22			chr2	TogoVar
RHPN1_chr8_143363876_143389221	143372869	GGGGGATG others(261): Show GGGGGATGGCGTGGGTTCCAGGGGATGGTGCAGGGGCTTGGGGGATGGTG TGGGTTCCAGGGGACGGTGTGGGGGTTTGGGGATGGCGCGGGTTCCAGGG GACGGTGTGGGGGTTTGGGGATGGCGCGGGTTCCAGGGGATGGTGTGGGG GTTTGGGGATGGCGTGGGTTCCAGGGGACGGTGCGGGGGTTTGGGGATGG CGTGGGTTCCAGGGGACGGTGCGGGGGCTTGGGGGATGGTGTGGGTTCCA GGGGACGGTGTGGGGGTTT	G G	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	426	0.0024	-268	c.61- others(15): Show c.61-2636_61-2369del	RHPN1	ENSG00000158106.14	transcript	ENST00000289013.11	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
RHPN1_chr8_143363876_143389221	143373264	CGGGTTCC others(261): Show CGGGTTCCAGGGGATGGTGTGGGGGTTTGGGGATGGCGTGGGTTCCAGGG GACGGTGTGGGGGTTTGGGGATGGCGCGGGTTCCAGGGGACGGGGCGGGG GCTTGGGGGATGGTGTGGGTTCCAGGGGACGGTGTGGGGGTTTGGGGATG GCGTGGGTTCCAGGGGACGGTGTGGGGGTTTGGGGATGGCGCGGGTTCCA GGGGACGGTGTGGGGGTTTGGGGATGGCGCGGGTTCCAGGGGACGGGGCG GGGGCTTGGGGGATGGTGT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00621.hp1 others(31): Show HG00140.hp1 HG00423.hp1 HG00621.hp1 HG00639.hp2 HG00673.hp2 HG00735.hp2 HG00741.hp1 HG01070.hp2 HG01081.hp2 HG01255.hp2 HG01346.hp1 HG01496.hp2 HG01515.hp1 HG02165.hp1 HG02698.hp2 HG03540.hp2 HG03688.hp1 NA18949.hp1 NA18952.hp1 NA18960.hp2 NA18965.hp2 NA18967.hp2 NA18969.hp1 NA18975.hp2 NA18978.hp1 NA18980.hp2 NA18990.hp1 NA18998.hp1 NA19000.hp2 NA19003.hp1 NA19068.hp1 NA19089.hp2 NA19091.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0006 a0001c0002t0013 a0001c0002t0019 others(1): Show a0001c0002t0006 a0001c0002t0013 a0001c0002t0019 a0001c0004t0006	a0001c0002t0006g0006 a0001c0002t0006g0047 a0001c0002t0006g0048 others(14): Show a0001c0002t0006g0006 a0001c0002t0006g0047 a0001c0002t0006g0048 a0001c0002t0006g0049 a0001c0002t0006g0132 a0001c0002t0006g0133 a0001c0002t0006g0135 a0001c0002t0006g0136 a0001c0002t0006g0137 a0001c0002t0006g0138 a0001c0002t0006g0139 a0001c0002t0006g0140 a0001c0002t0006g0141 a0001c0002t0013g0028 a0001c0002t0013g0134 a0001c0002t0019g0006 a0001c0004t0006g0006	34	426	0.0798	-268	c.61- others(15): Show c.61-2275_61-2008del	RHPN1	ENSG00000158106.14	transcript	ENST00000289013.11	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
RNF223_chr1_1065967_1079306	1076230	CTGAGGCT others(261): Show CTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCG TGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTAC GGGGACTCCGTGCTGGGAGGCTGAGGCTATGGGGACTCCGTCGGGGGAGG CTGAGTCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCG TGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGCAGGCTGAGGCTATG GTGACTCCGTGCAGGGCTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG01074.hp1 others(14): Show HG00099.hp1 HG00423.hp1 HG01074.hp1 HG01175.hp1 HG01256.hp1 HG01361.hp2 HG01934.hp2 HG01952.hp2 HG01978.hp1 HG01993.hp1 HG02148.hp2 HG02257.hp2 HG02559.hp1 HG02572.hp1 HG02647.hp1 HG03669.hp2 HG04199.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0006 a0001c0001 a0002c0002 a0006c0006	a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0006c0006t0001	a0001c0001t0001g0001 a0001c0001t0004g0005 a0002c0002t0001g0014 others(1): Show a0001c0001t0001g0001 a0001c0001t0004g0005 a0002c0002t0001g0014 a0006c0006t0001g0019	17	324	0.0525	-268	c.-24 others(11): Show c.-2492_-2225del	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		1925		chr1	TogoVar
RPH3AL_chr17_207389_357807	253994	TTTCCGTC others(261): Show TTTCCGTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGC CGCATGGCGTCTGTCCTGTTCCATCCCTAGGAACGTGACTACCCTACGTA CTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAA TGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCC TTTTCCATCCCTAGGAATATGACTACCCTACGTACTTCCTATGAGGGGAG CCGCATGGCGTCTGTCCTG	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0070 a0001c0001t0017g0070	1	133	0.0075	-268	c.439 others(17): Show c.439-6977_439-6710del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	254010	TGTGACTA others(261): Show TGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCATGGCGTCTGTCC TGTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAG CCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATGTGACTACCCTACGT ACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCCTTTTCCATCCCTAGGA ATATGACTACCCTACGTACTTCCTATGAGGGGAGCCGCATGGCGTCTGTC CTGTTCCATCCCTAGGAAC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02895.hp2 HG01167.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0009 a0001c0003t0030 a0001c0001t0009 a0001c0003t0030	a0001c0001t0009g0094 a0001c0003t0030g0122 a0001c0001t0009g0094 a0001c0003t0030g0122	2	133	0.0150	-268	c.439 others(17): Show c.439-6993_439-6726del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	254852	CGGCGTCT others(261): Show CGGCGTCTGTCCTGTTCCATCCCTAGGAATGTGACTACCCTACGTACTTC CTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTG ACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTT CCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGC ACGGCGTCTGTCCTTTTCCGTCCCTAGGAATGTGACTACCCTACGTACTT CCTATGAGGGGAGCCGCAT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0131 a0001c0001t0010g0131	1	133	0.0075	-268	c.439 others(17): Show c.439-7835_439-7568del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	254881	TGTGACTA others(261): Show TGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAG CCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGT ACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCCTTTTCCGTCCCTAGGA ATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCATGGCGTCTGTC CTGTTCCATCCCTAGGAAC	T T	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0051	1	133	0.0075	-268	c.439 others(17): Show c.439-7864_439-7597del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	255066	TTTCCGTC others(261): Show TTTCCGTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGC CGCATGGCGTCTGTCCTGTTCCATCCCTAGGAACGTGACTACCCTACGTA CTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAA TGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCC TTTTCCATCCCTAGGAATATGACTACCCTACGTACTTCCTATGAGGGGAG CCGCATGGCGTCTGTCCTG	T T	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02895.hp1 HG01978.hp1 HG02895.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0012 a0001c0001 a0003c0012	a0001c0001t0004 a0003c0012t0005 a0001c0001t0004 a0003c0012t0005	a0001c0001t0004g0087 a0003c0012t0005g0020 a0001c0001t0004g0087 a0003c0012t0005g0020	2	133	0.0150	-268	c.439 others(17): Show c.439-8049_439-7782del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	255071	GTCCCTAG others(261): Show GTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCAT GGCGTCTGTCCTGTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCC TATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATGTGA CTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCCTTTTC CATCCCTAGGAATATGACTACCCTACGTACTTCCTATGAGGGGAGCCGCA TGGCGTCTGTCCTGTTCCA	G G	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0006 a0001c0001t0012g0006	1	133	0.0075	-268	c.439 others(17): Show c.439-8054_439-7787del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	255726	CGTCTGTC others(261): Show CGTCTGTCCTGTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTA TGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACT ACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTGTTCCG TCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACG GCGTCTGTCCTTTTCCATCCCTAGGAATATGACTACCCTACGTACTTCCT ATGAGGGGAGCTGCACGGT	C C	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0058 a0001c0001t0037g0058	1	133	0.0075	-268	c.439 others(17): Show c.439-8709_439-8442del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	255736	GTTCCATC others(261): Show GTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGC CGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTA CTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTGTTCCGTCCCTAGGAA TGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TTTTCCATCCCTAGGAATATGACTACCCTACGTACTTCCTATGAGGGGAG CTGCACGGTGTCTGTCCTT	G G	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0006 a0001c0001t0012g0006	1	133	0.0075	-268	c.439 others(17): Show c.439-8719_439-8452del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	256155	ATGACTAC others(261): Show ATGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCCT TTTCCGTCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGC CGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTA CTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAA CGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TTTTCCATCCCTAGGAATG	A A	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0083 a0001c0001t0024g0083	1	133	0.0075	-268	c.439 others(17): Show c.439-9138_439-8871del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	256272	TTTCCATC others(261): Show TTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGC CGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTA CTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAA TGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TTTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAG CCGCACGGCGTCTGTCCTG	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0103 a0001c0002t0029g0103	1	133	0.0075	-268	c.439 others(17): Show c.439-9255_439-8988del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	256422	TGTGACTA others(261): Show TGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TTTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAG CCGCACGGCGTCTGTCCTGTTCCATCCCTAGGAATGTGACTACCCTACGT ACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTGTTCCATCCCTAGGA ACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTC CTTTTCCATCCCTAGGAAC	T T	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	133	0.0075	-268	c.439 others(17): Show c.439-9405_439-9138del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	257617	ATCCCTAG others(261): Show ATCCCTAGGAATATGACTACCCTACGTACTTCCTATGAGGGGAGCCGCAC GGCGTCTGTCCTTTTCCGTCCCTAGGAATGTGACTACCCTACGTACTTCC TATGAGGGGAGCCGCACGGTGTCTGTCCTTTTCCGTCCCTAGGAATGTGA CTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGTGTCTGTCCTGTTC TGTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCA CGGTGTCTGTCCTGTTCTG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01070.hp2 HG01358.hp2 others(2): Show HG00323.hp2 HG01070.hp2 HG01358.hp2 HG01943.hp1 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0013 a0001c0001t0016 others(2): Show a0001c0001t0004 a0001c0001t0013 a0001c0001t0016 a0001c0001t0037 a0001c0002t0009	a0001c0001t0004g0008 a0001c0001t0013g0108 a0001c0001t0016g0082 others(2): Show a0001c0001t0004g0008 a0001c0001t0013g0108 a0001c0001t0016g0082 a0001c0001t0037g0058 a0001c0002t0009g0126	5	133	0.0376	-268	c.439 others(19): Show c.439-10600_439-10333del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	257674	GTCCTTTT others(261): Show GTCCTTTTCCGTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGG GGAGCCGCACGGTGTCTGTCCTTTTCCGTCCCTAGGAATGTGACTACCCT ACGTACTTCCTATGAGGGGAGCCGCACGGTGTCTGTCCTGTTCTGTCCCT AGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGTGTC TGTCCTGTTCTGTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAG GGGAGTCGCACGGCGTCTA	G G	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0005 a0001c0001t0012g0005	1	133	0.0075	-268	c.439 others(19): Show c.439-10657_439-10390del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
SLC66A2_chr18_79897420_79956653	79920351	GGGAACCG others(261): Show GGGAACCGAGGGAGAGGTCAAGGTCAGTGGAGGAGAGACAGGAACCGAGG GAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAAGG TCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGA GACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGA GTGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAG GGTCAGAGGAGGAGAGACA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0233 a0001c0001t0036g0233	1	352	0.0028	-268	c.392 others(16): Show c.392-1219_392-952del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79920832	GTCAGTGA others(261): Show GTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAG AGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACC GAGGGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTC AGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGCTCAGTGA GGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGA ACCGAGTGAGAGGTCAAGC	G G	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA19005.hp2 NA18979.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0246 a0001c0001t0006g0248 a0001c0001t0006g0246 a0001c0001t0006g0248	2	352	0.0057	-268	c.392 others(17): Show c.392-1700_392-1433del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC9A3_chr5_465456_529449	474527	AGGAGAGA others(261): Show AGGAGAGAGACAGCGCGCGCGAGGCGGAGACCTGGAGGGAGAGGAGCTGC GGAGAGGGGTTAGGCGGGGAGGGAGAGAGCCAGGTTCAGGTCCAGGGAGG AGAGAGACAGCGCGCGCGAGGCGGAGACCTGGAGGGAGAGGAGCTGCGGA GAGGGGTTAGGCGGGGAGAGAGAGAGCGAGCCAGGTTCAGGTCCAGGGAG GAGAGAGACAGCGCGCGCGAGGCGGAGACCTGGAGGGAGAGGAGCTGCGG AGAGGGGTTAGGCGGGGAG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02818.hp2 NA18971.hp2 HG01099.hp1 HG02818.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0027 a0001c0008t0005 a0001c0001t0001 a0001c0001t0027 a0001c0008t0005	a0001c0001t0001g0040 a0001c0001t0027g0144 a0001c0008t0005g0208 a0001c0001t0001g0040 a0001c0001t0027g0144 a0001c0008t0005g0208	3	218	0.0138	-268	c.250 others(16): Show c.2501+88_2501+355del	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	16/16			chr5	TogoVar
SMYD3_chr1_245744347_246512279	245991751	CCAGAAAC others(261): Show CCAGAAACGGCCTGCCGTCATTTCTATCATATTCTATTGGCCACACACAC CAACTTACAACTGAACCTCAGAAACGGCCTGCCGTCATTTCTATCATATT CTATTGGCCACACACACCAACTTACAACTGAACCTCAGAAACGGCCTGCC GTCATTTCTATCATATTCTATTGGCCACACACACCAACTTACAACTGAAC CTCAGAAACGGCCTGCCGTCATTTCTATCATATTCTATTGGCCACACACA CCAACTTACAACTGAACCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02004.hp2 HG02145.hp1 HG00140.hp1 HG02004.hp2 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0001 a0001c0002t0002 a0001c0006t0003 a0001c0002t0001 a0001c0002t0002 a0001c0006t0003	a0001c0002t0001g0029 a0001c0002t0002g0078 a0001c0006t0003g0001 a0001c0002t0001g0029 a0001c0002t0002g0078 a0001c0006t0003g0001	3	150	0.0200	-268	c.532 others(19): Show c.532-62082_532-61815del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNPH_chr20_1261294_1314327	1302096	ATTTCTAA others(261): Show ATTTCTAATTTCATCAATATTTCTATCACCTCAAAATAAACCCCATTCCC ATTAGCAATCACCGCCAGTTTCTAATTTCATCAATATTTCTATCACCTCA AAATAAACCCCATTCCCATTAGCAATCACCGCCAGTTTCTAATTTCATCA ATATTTCTATCACCTCAAAATAAACCCCATTCCCATTAGCAATCACCGCC AATTTCTAATTTCATCAATATTTCTATCACCTCAAAATAAACCCCATTCC CATTAGCAATCACCGCCAG	A A	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0120 a0001c0002t0001g0120	1	350	0.0029	-268	c.440 others(17): Show c.440+1452_440+1719del	SNPH	ENSG00000101298.15	transcript	ENST00000381867.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
THBS3_chr1_155190588_155212897	155190711	GGGGGGGC others(261): Show GGGGGGGCGGTGGAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGAC ACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGG TCGAGGTGACACCGTGGGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTG GTGTCTGGGGGGGCGGTGGAGCCGGGGCCGGCCTGGTGTCCGGGGTTGGA AAACTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCAGGGGTCCGGGGC CGAGGTGACACCGTGGGCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	298	0.0034	-268	c.48 others(11): Show c.4862_*5129del	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4876		chr1	TogoVar
THBS3_chr1_155190588_155212897	155190772	GGGGGGCG others(261): Show GGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGTCGAGGTGACA CCGTGGGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCTGGGGG GGCGGTGGAGCCGGGGCCGGCCTGGTGTCCGGGGTTGGAAAACTGGGCTG GGGGGGCGGTGGAGCCCGGGGCCGGCAGGGGTCCGGGGCCGAGGTGACAC CGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCC GAGGTGACACCGTGGGCTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG01175.hp1 HG01934.hp1 others(7): Show HG00438.hp1 HG01175.hp1 HG01934.hp1 HG02074.hp1 HG02145.hp1 HG02630.hp1 HG02895.hp1 HG03540.hp1 HG03942.hp2 NA19090.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0003 a0008c0011 a0001c0001 a0001c0003 a0008c0011	a0001c0001t0001 a0001c0003t0001 a0008c0011t0001 a0001c0001t0001 a0001c0003t0001 a0008c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0018 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0003t0001g0055 a0008c0011t0001g0056	10	298	0.0336	-268	c.48 others(11): Show c.4801_*5068del	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4815		chr1	TogoVar
TMEM14B_chr6_10742805_10761981	10760842	CCATGTTG others(261): Show CCATGTTGGCCAGGCTGGTCTCAACCTCCTGACCTCAGGTGATCCACCCA CCTCGGCCTCTCAAAGTGCTGGGATTACAAGCGTGAGTCACTGCCGCACC TGATCATTCATGCATTCATTCATGCATTCATCTTAGTATGGACTCATGGA TATTTCTTTTTTCTTTGGGTTGTAATACTTATTTTTTTTTTTTTTTTTTT GAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGGTCT CGGCTCACTGCAAGCTCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01243.hp2 HG01891.hp2 others(10): Show HG00735.hp2 HG01243.hp2 HG01891.hp2 HG02486.hp2 HG02723.hp1 HG02818.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG03130.hp2 HG03516.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0003	a0001c0001t0001g0006 a0001c0001t0001g0095 a0001c0001t0002g0008 others(7): Show a0001c0001t0001g0006 a0001c0001t0001g0095 a0001c0001t0002g0008 a0001c0001t0002g0024 a0001c0001t0002g0026 a0001c0001t0002g0069 a0001c0001t0002g0094 a0001c0001t0004g0103 a0001c0002t0003g0027 a0001c0002t0003g0098	13	440	0.0296	-268	c.43 others(11): Show c.4325_*4592del	TMEM14B	ENSG00000137210.14	transcript	ENST00000379542.10	protein_coding		3862		chr6	TogoVar
TNK2_chr3_195858364_195913551	195874798	AGCTCCCC others(261): Show AGCTCCCCTCGGGATGGCGCCCACGCACACTCCGAGGCACAAGAAGCTCC CCTCGGGATGGCGCCCACGCACGCTCCGAGGCACAAGAAACTCCCCCTCG GGATGGCGCCCACGCACGCTCCGAGGCACAAGAAGCTCCCCTCGGGATGG CGCCCACGCACACTCCGAGGCACAAGAAGCTCCCCTCGGGATGGCGCCCA CGCACGCTCCGAGGCACAAGAAACTCCCCCTCGGGATGGCGCCCACGCAC GCTCGGAGGCACAGGAAGC	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0001 a0001c0042t0001	a0001c0042t0001g0234 a0001c0042t0001g0234	1	372	0.0027	-268	c.125 others(19): Show c.1257-2596_1257-2329del	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	9/15			chr3	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)