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 (≤).

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⚠️ 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
ARHGAP8_chr22_44747575_44867784	44815359	CTCGGTCT others(553): Show CTCGGTCTCCAGCCCCTCCTGAGATGAGACAAATAAAACCCACCCAAGGC CCCCGCCCTCAATCACATTGTTGGCACAAACTCTGTGGTGTTGGCCCAAG GTTCCCGGTGGGCAAAGACATTACCAGGCCGACTCTCCCAGGAGCTGAGA GGTTTCCACCCAGGAGCAGGTCACCCATGGCCAGCCTTCTCTTTGGAACG TGTGGGGCTTGGACACCCCCAGCCTGCTGAGTTAAGCCTTGATTGCATAG CAACCCAAATAAGCGGCCTAAAGAAAGGCAGCCACAGCCCGGAAATGTGG CGACTTCAGTCAGCTTCTTCCATATTTAGACTTGTTCCTGCTAAAGGATT TCTGCCTCAGTATTGGGAAGCAAGAGCTCAAGGGGCTCGTGAGGCCTGGG AGGCTCTGCCTGGGTCGCATGGGCATCTTGTATTTTCTTCCGTTTTGGCT GTATGCATCAGGCACAAACTGTGTGCACAGAGCCACATGACGGGGGTGGG GTGGGGAAGAGACTGACAGATGTCGTTCTTGCACGGTGGCTCTGGCCCTC CCTGGGTGAGT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0005 a0002c0023t0005	a0002c0023t0005g0071 a0002c0023t0005g0072 a0002c0023t0005g0071 a0002c0023t0005g0072	2	390	0.0051	-560	c.386 others(16): Show c.386+604_386+1163del	ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ARRDC5_chr19_4885437_4907896	4885548	AAAAATTA others(553): Show AAAAATTAGCCGGGCATGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGA GCCGACATTGCACTACTGCACTCCAGCCTGGCAACACAGCAAGACTCTGT CTTAAATAAATAAATCAATAAAGTGTCTTAGTTGGTCCCACCCTATGGAG AGGCTGGGTTTTCCGGAATCTGCTGGAATGTGGCAGGGGTCACTAAATGC AAATGTGTCATGGCTGCAGGGTTGACAGACACCCTGCAGCAAGAGGGAGG GAGGTACCAGTATGTTGCAGTTCGAAGGTGGCTGGAGAAGTATTTCAGGG CCATTCCCCCAAGAAGACAAACCCTGGATCAGTCTTTTTAAAATTTAATT TAATTTTAGTATTATAAAGAAAAATTTAAAAAACAGGCCGGGCGTGGTGG CTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACG AGGTCGGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCT ACTAAAAATAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	412	0.0024	-560	c.49 others(11): Show c.4938_*5497del	ARRDC5	ENSG00000205784.4	transcript	ENST00000650722.2	protein_coding		4888		chr19	TogoVar
B3GNTL1_chr17_82937149_83056770	83004077	GTCCGCGT others(553): Show GTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCGCCCTCCGCGTGTGGGA TTCCTGAGCTCGCCCTCCCACTCTCCGCAGTCCGCGTGTGGGATTCCTGA GCCCGCCCTCCCGCCCTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCAC TCTCCGCAGTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCGCCCTCCGC GTGTGGGATTCCTGAGCCCGCCCTCCCACTCTCTGCAGTCCGCGTGTGGG ATTCCTGAGCTCGCCCTCCCGCCCTCCGCGTGTGGGATTCCTGAGCTCGC CCTCCCACTCTCTGCAGTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCG CCCTCCGCGTGTGGGATTCCTGAGCTCGCCCTCCCACTCTCTGCAGTCCG CGTGTGGGATTCCTGAGCTCGCCCTCCCGCCCTCCGCGTGTGGGATTCCT GAGCTCGCCCTCCCACTCTCTGCAGTCCGCGTGTGGGATTCCTGAGCTCG CCCTCCCACTCTCTGCAGTCCGCATGTGGGATTCCTGAGCTCGCCCTCCC ACCCTCCGCAC	G G	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0017 a0001c0006t0001g0017	1	266	0.0038	-560	c.459 others(16): Show c.459+478_459+1037del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
CDC16_chr13_114229897_114277723	114271125	ATTAGCCA others(553): Show ATTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGG CCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCGCGCCCGGCCAAGA TTTACCATTCATGTCATTTTTATTTTTAGAAAGTTTGCATGTCATTATCT GCCAAACTACCTATTTCTGAAAGCTATTGGTTTGAACTGTGTAAAACTCA TTTTGTTTATGTCGAATGATTGTACCTAATACATCTGTTCAGATCTGTTC AAATCTATATTACCCTTAAGGTTTTAATATATGGGAAATGGATTTTATTT CATCGTGGCTTTTTTATGCATAAGATTGGTGACTATACCCAATGGGCACA GCACAGTTCTTTTTTTTTGAGATGGAATCTCACTCTGTTGCCCAGGCTGG AGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCATCTCCTGGGTTCA TGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACCCG CCACCATGCCCGGCTAATTTTTTTGTATTTTTTTTTTTAGTAGAGACTGG GTTTCACCGTG	A A	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18993.hp2 NA18957.hp1 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	2	380	0.0053	-560	c.160 others(18): Show c.1604-1028_1604-469del	CDC16	ENSG00000130177.16	transcript	ENST00000356221.8	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
CNN2_chr19_1021608_1044065	1034276	GTGGGTGG others(553): Show GTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGT GTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACC GGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGA CACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTA GACCGGCAGCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGG GTGGGACGGTGTCTGGTGTAGACCGGCAGCGTGGGTGGGACACGGTGTCT GGTGTAGACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGCAGC GTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGACGGT GTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACC GGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGA CACATTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTA GACCGGGAGCA	G G	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0107	1	390	0.0026	-560	c.390 others(17): Show c.390+1591_391-1284del	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931525	CAGAGGAA others(553): Show CAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGAGGAGAGGAATG AGTGAGCGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAG GAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATG AGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGG	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0170 a0002c0001t0170	a0002c0001t0170g0152 a0002c0001t0170g0152	1	386	0.0026	-560	c.198 others(17): Show c.198+2126_199-1925del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931541	CGGGGAGA others(553): Show CGGGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAG CGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGG AATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGG AATGAGTGAGT	C C	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0103 a0001c0005t0103	a0001c0005t0103g0069 a0001c0005t0103g0069	1	386	0.0026	-560	c.198 others(17): Show c.198+2110_199-1941del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931589	GGAATGAG others(553): Show GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTG AGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGA GGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0031 a0004c0007t0031	a0004c0007t0031g0207 a0004c0007t0031g0207	1	386	0.0026	-560	c.198 others(17): Show c.198+2062_199-1989del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933305	GAGAGGAA others(553): Show GAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAG GAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAG GAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGCAGAGGAATGAGTGAGTGAG GAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGC	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02717.hp1 HG03486.hp2 HG00597.hp2 HG02717.hp1 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0008 a0002c0001 a0001c0008 a0002c0001	a0001c0008t0041 a0001c0008t0110 a0002c0001t0096 a0001c0008t0041 a0001c0008t0110 a0002c0001t0096	a0001c0008t0041g0371 a0001c0008t0110g0370 a0002c0001t0096g0133 a0001c0008t0041g0371 a0001c0008t0110g0370 a0002c0001t0096g0133	3	386	0.0078	-560	c.198 others(15): Show c.198+346_198+905del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
DDX51_chr12_132131594_132149319	132135501	CGAGTGTG others(553): Show CGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGT GCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCCCAC CTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCC CACGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTC CTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGA GTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCC GCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCC GAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTG CCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCT CCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCA CGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCC CACCTCCCCGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0021 a0002c0002t0021	a0002c0002t0021g0048 a0002c0002t0021g0048	1	334	0.0030	-560	c.32 others(11): Show c.3211_*3770del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1092		chr12	TogoVar
DENND5B_chr12_31377226_31596136	31483933	TGGCTCAC others(553): Show TGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCCTGCACCACCATGCCCAGCTAATTTTGTGTTTTT AGTAGAGACGGGGTTTCACCATTTTTGGCCAGGCTGGTCTCAAACTCCTG ACCTCAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG TGTAAGCTACCCGACCCGGCCTCGAGCAATTTTCTTATTCAAGTTCAAAA TGGGTCGTAAAGCAGTGGAGACAACCACAACATCGACAATGCATTTGGCC CAGGGACTGCTAACTAACGCACAGTGCAGTGGTGGTTCAAGAAGTTTTGA AAAGGAGATGGCAGCCTTGGAGATGAGAAGCATAGTGGCTGGCCATCAGA AGTTGACAATGATCAATTGAGAGTAATCACTGAAGCTGACCCTCTTCAGC AACATGAAAAGTTGCTGAAGAACTCAACGTCGACCATTCTATGGCCGTTT GACATGTGAAGCAAATTGGAAAGGTGGAAAAACTCGGTAAGTGGGTGCCT CATGAGCTGAG	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18982.hp2 NA19085.hp1 HG00597.hp2 NA18982.hp2 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0058 a0002c0002t0015g0076 a0002c0002t0015g0077 a0002c0002t0015g0058 a0002c0002t0015g0076 a0002c0002t0015g0077	3	308	0.0097	-560	c.238 others(17): Show c.238-4238_238-3679del	DENND5B	ENSG00000170456.16	transcript	ENST00000389082.10	protein_coding	2/20			chr12	TogoVar
DPH7_chr9_137549444_137583925	137565302	TGGGTGAC others(553): Show TGGGTGACTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCC CCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAG GAAGCTCCCCT	T T	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	340	0.0029	-560	c.641 others(15): Show c.641-708_641-149del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567756	TCTGTCTG others(553): Show TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGAC TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0175 a0001c0006t0001g0175	1	340	0.0029	-560	c.641 others(17): Show c.641-3162_641-2603del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
GIP_chr17_48953554_48973596	48959769	AGGACACA others(553): Show AGGACACAGGATGGGCTCAGCTCGGTGGGTAGGGACAGGCGGGACACAGG ATGGGCTCAGCTCGGTGGGTAGGGACAGGCAGGCCACAGGATGGGCTCAG CTCTGTGTGTAGGGACAGGCAGGCCACAGGATGGGCTCAGCTCGGTGGGT AGGGACAGGCAGGCCACAGGATGGGCTCAGCTCGGTGGGTAGGGACAGGC GGGACACAGGATGGGCTCAGCTCGGTGGGTAGGGACAGGCAGGCCACAGG ATGGGCTCAGCTCGGTGGGTAGGGACAGGCGGGCCACAGGATGGGCTCAG CTCTGTGTGTAGGGACAGGCGGGACACAGGATGGGCTCAGCTCGGTGGGT AGGGACAGGCGGGACACAGGATGGGCTCAGCTCGGTGGGTAGGGACAGGC AGGCCACAGGATGGGCTCAGCTCGGTGGGTAGGGACAGGCGGGACATAGG ATGGGCTCAGCTCTGTGTGTAGGGACAGGCAGGCCACAGGATGGGCTCAG CTCGGTGGGTAGGGACAGGCGGGACACAGGATGGGCTCAGCTCTGTGTGT AGGGACAGGCG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	406	0.0025	-560	c.452 others(16): Show c.452+557_453-1054del	GIP	ENSG00000159224.4	transcript	ENST00000357424.2	protein_coding	5/5			chr17	TogoVar
GOLGA3_chr12_132763914_132833869	132817503	GGTGAACC others(553): Show GGTGAACCCGCACTCCACACCTCCACGCTCTAAGGTGAACCCACCCTCCA CACCTCCACACTCTAACGTGAACCCGCCCTCCACTCCTCCACGCTCTAAG GTGAACTCACCCTCCACACCTCCACGCTCTAAGGTGAACCCCCCCCCCAC ACCTCCACACTCTAAGGTGAACTCACCCTCCACTCCTCCACGCTCTAAGG TGAACCCGCCCTCCACACCTCCACGCTCTAAGGTGAACCCACCCTCCACA CCTCCACGCTCTAAGGTGAACCCGCCCTCCACTCCTCCACGCTCTAAGGT GAACCCGCACTCCACACCTCCACACTCTAACGTGAACCCGCCCTCCACTC CTCCACGCTCTAAGGTGAACTCACCCTCCACACCTCCACGCTCTAAGGTG AACCCCCCCCCCACACCTCCACACTCTAAGGTGAACTCACCCTCCACTCC TCCACGCTCTAAGGTGAACCCCCCCCCACACCTCCACACTCTAAGGTGAA CTCACCCTCCACTCCTCCACGCTCTAAGGTGAACCCACCCTCCACACCTG TACGCTCTAAC	G G	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0018 a0005c0006t0018	a0005c0006t0018g0023 a0005c0006t0018g0023	1	308	0.0033	-560	c.134 others(16): Show c.134-1251_134-692del	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	2/23			chr12	TogoVar
HIC1_chr17_2050103_2068241	2052377	TGCCTGGG others(553): Show TGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAG GGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCC TCCCTTACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGGGGCCTGGGCT GGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGA TGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAG AAGCAATGAGGGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGC TGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGG GGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAG GGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCC TCCCTTACAGAAGCAATGAGGGCTTGAGGATGGGGTTAGGGGCCTGGGCT GGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGA TGGGGTTAGGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02922.hp2 HG03041.hp2 HG02280.hp1 HG02922.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0073 a0001c0002t0001 a0001c0002t0003 a0001c0002t0073	a0001c0002t0001g0001 a0001c0002t0003g0001 a0001c0002t0073g0001 a0001c0002t0001g0001 a0001c0002t0003g0001 a0001c0002t0073g0001	3	414	0.0073	-560	c.-28 others(11): Show c.-2881_-2322del	HIC1	ENSG00000177374.13	transcript	ENST00000619757.5	protein_coding		2725		chr17	TogoVar
HIC1_chr17_2050103_2068241	2052507	GGGGGTTA others(553): Show GGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAG AAGCAATGAGGGCTTGAGGATGGGGTTAGGGGCCTGGGCTGGGGCAGGGC TGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGG GGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAG GGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCC TCCCTTACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGGGGCCTGGGCT GGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGA TGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAG AAGCAATGAGGGCTTGAGGATGGGGTTAGGGGCCTGGGCTGGGGCAGGGC TGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGATGGGGTTAGG GGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAG GGCTTGAGGAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00735.hp2 others(38): Show HG00099.hp2 HG00140.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01515.hp2 HG01517.hp2 HG02027.hp2 HG02109.hp1 HG02165.hp1 HG02559.hp2 HG03041.hp1 HG03130.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp1 HG03579.hp2 HG03704.hp1 HG04199.hp2 NA18941.hp2 NA18943.hp1 NA18948.hp1 NA18957.hp2 NA18961.hp2 NA18979.hp1 NA18984.hp1 NA19030.hp2 NA19063.hp2 NA19064.hp2 NA19070.hp1 NA19072.hp1 NA19081.hp1 NA20805.hp1 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0017 a0001c0001t0018 a0001c0001t0023 a0001c0001t0025 a0001c0001t0033 a0001c0001t0051 a0001c0001t0056 a0001c0001t0060 a0001c0001t0072 a0001c0001t0088 a0001c0002t0001 a0002c0003t0020 a0002c0003t0035 a0003c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0002g0002 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0002g0002 a0001c0001t0003g0001 a0001c0001t0003g0013 a0001c0001t0005g0001 a0001c0001t0005g0002 a0001c0001t0007g0003 a0001c0001t0009g0002 a0001c0001t0010g0003 a0001c0001t0017g0001 a0001c0001t0018g0001 a0001c0001t0023g0001 a0001c0001t0025g0002 a0001c0001t0033g0001 a0001c0001t0051g0001 a0001c0001t0056g0001 a0001c0001t0060g0002 a0001c0001t0072g0005 a0001c0001t0088g0002 a0001c0002t0001g0001 a0002c0003t0020g0004 a0002c0003t0035g0004 a0003c0006t0001g0001	41	414	0.0990	-560	c.-27 others(11): Show c.-2751_-2192del	HIC1	ENSG00000177374.13	transcript	ENST00000619757.5	protein_coding		2595		chr17	TogoVar
MAD1L1_chr7_1810795_2237945	1991285	ACCGCTGG others(553): Show ACCGCTGGGTGCCTGAGCACCCGCCCCACCAGAGCGCCACTGCTGGCCTC ACGAGCACCGCTGGGTGCCTGAGCACCCGCCCCACCAGAGCGCCACTGCT GGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCCGCCCCACCAGAGCGCC ACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCCGCCCCACCAG AGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCTGCCC CACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCAC CTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCT GAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGG GTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGC CGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCAC GAGCGCCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGG CCTCACGAGCG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01070.hp2 HG01071.hp1 others(22): Show HG00639.hp2 HG01070.hp2 HG01071.hp1 HG01106.hp1 HG01175.hp1 HG01361.hp2 HG01975.hp1 HG01978.hp2 HG02040.hp1 HG02080.hp2 HG02132.hp1 HG02165.hp1 HG02273.hp2 HG02523.hp2 HG02572.hp2 HG02698.hp1 HG02965.hp1 HG03139.hp1 HG03579.hp2 NA18522.hp2 NA18954.hp2 NA18981.hp1 NA18999.hp1 NA18999.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0005 a0001c0001 a0001c0003 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0003t0001 a0001c0003t0007 a0002c0005t0001 a0002c0005t0002	a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0182 others(22): Show a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0182 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0230 a0001c0001t0002g0055 a0001c0001t0002g0103 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0122 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0201 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0007g0144 a0001c0003t0001g0072 a0001c0003t0007g0135 a0002c0005t0001g0240 a0002c0005t0002g0121	25	264	0.0947	-560	c.141 others(21): Show c.1416+10220_1417-10745del	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	14/18			chr7	TogoVar
MAPK8IP3_chr16_1701195_1775351	1737306	ATCTGTGT others(553): Show ATCTGTGTGACCGTCCGTGTGAGCATCCGTGTGAGCGTGACCGTCCGTGA GTGTGTGACCGTCCGTGTGAGAGTGTGACCATCCATGTGAGCATCTGTGT GACCGTCCGTGTGAGCGTCCGTGTGAGTGTGTGAGCGTCCGTGTGAGTGT GACCACCCATGTGAGCATCTGTGTGACCGTCCGTGTGAGCGTCCGTGTGA GCGTGTGACCGTCCGTGTGAGTGTGTGACCATTCGTGTGAGAGTGTGACC ATCCATGTGAGCATCTGTGTGACCGTCCGTGAGCATCCGTGTGAGCGTGT GACCGTCCGTGTGTGTGACCATCCATGTGAGCATCCGTGTGACTGTCCGT GTGAGCGTCCGTGTGAGCGTGTGACCGTCCGTGTGTGACCATCCATGTGA GCATCTGTGTGACCGTCCGTGTGAGCATCCGTGTGAGCGTGACCATCCGT GTGTGTGACCATCCGTGTGAGTGACCATCCATGTGAGCATCCATGTGACC GTCCGTGTGAGCGTCCGTGTGAGCGTGACTGTCCGTGTGTGTGACCATCC ATGTGAGCATC	A A	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0282 a0001c0003t0003g0282	1	330	0.0030	-560	c.603 others(17): Show c.603-6024_603-5465del	MAPK8IP3	ENSG00000138834.15	transcript	ENST00000610761.2	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr16	TogoVar
MYOM2_chr8_2040046_2150456	2085612	GCGTGGCC others(553): Show GCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGAT CTCTGCGTGGCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTCGTG ATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGT CGTGATCTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCCCA CAGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCCC CACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGC CCCCCACTGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTG GCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTT TGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATC TCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCCCACTGTTGT GATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTG TTGTGATCTCT	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00609.hp2 others(5): Show HG00423.hp1 HG00438.hp2 HG00609.hp2 HG01928.hp2 HG01943.hp1 HG01952.hp2 HG02004.hp2 HG02148.hp1	a0001 a0005 a0006 others(2): Show a0001 a0005 a0006 a0021 a0074	a0001c0002 a0005c0005 a0006c0013 others(2): Show a0001c0002 a0005c0005 a0006c0013 a0021c0028 a0074c0126	a0001c0002t0001 a0005c0005t0001 a0006c0013t0001 others(2): Show a0001c0002t0001 a0005c0005t0001 a0006c0013t0001 a0021c0028t0001 a0074c0126t0001	a0001c0002t0001g0009 a0005c0005t0001g0240 a0005c0005t0001g0276 others(5): Show a0001c0002t0001g0009 a0005c0005t0001g0240 a0005c0005t0001g0276 a0005c0005t0001g0288 a0005c0005t0001g0293 a0006c0013t0001g0155 a0021c0028t0001g0186 a0074c0126t0001g0018	8	403	0.0199	-560	c.164 others(17): Show c.1644+223_1644+782del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36			chr8	TogoVar
OR6B3_chr2_240039571_240058521	240042167	CGTGGGTG others(553): Show CGTGGGTGAAGAGGCATGGAGGAAGGGCCGTGGGTGAAGAGGCATGGACG AAGGGCCGTGGGTGAAGAGGCATGGACGAAGGGCCGTGGGTGAAGAGGCA TGGACGAAGGGCCGTGGGTGAAGAGGCATGGAGGAAGGGCCGTGGGTGAA GAGGCATGGAGGAAGGGCCGTGGGTGAAGAGGCATGGACGAAGGGCCGTG GGTGAAGAGGCATGGACGAAGGGCCGTGGGTGAAGAGGCATGGACGAAGG GCCGTGGGTGAAGAGGCATGGACGAAGGGCCGTGGGTGAAGAGGCATGGA GGAAGGGCCGTGGGTGAAGAGGCATGGAGGAAGGGCCGTGGGTGAAGAGG CATGGAGGAAGGGCCGTGGGTGAAGAGGCATGGAGGAAGGGCCGTGGGTG AAGAGGCATGGAGGAAGGGCCGTGGGTGAAGAGGCATGGACGAAGGGCCG TGGGTGAAGAGGCATGGACGAAGGGCCGTGGGTGAAGAGGCATGGACGAA GGGCCGTGGGTGAAGAGGCATGGACGAAGGGCCGTGGGTGAAGAGGCATG GATGAAGGACT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00609.hp2 HG01192.hp2 others(23): Show HG00558.hp2 HG00609.hp2 HG01192.hp2 HG02074.hp1 HG02155.hp2 HG02165.hp1 HG02280.hp2 HG02615.hp1 HG02698.hp1 HG03927.hp1 HG03942.hp2 NA18940.hp2 NA18952.hp2 NA18962.hp1 NA18964.hp2 NA18966.hp2 NA18978.hp2 NA18980.hp2 NA19002.hp2 NA19059.hp2 NA19060.hp2 NA19070.hp2 NA19072.hp2 NA19077.hp1 NA19084.hp1 NA19086.hp2	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0001 a0001c0023 a0003c0005 others(1): Show a0001c0001 a0001c0023 a0003c0005 a0009c0020	a0001c0001t0001 a0001c0023t0001 a0003c0005t0004 others(1): Show a0001c0001t0001 a0001c0023t0001 a0003c0005t0004 a0009c0020t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0025 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0025 a0001c0001t0001g0109 a0001c0023t0001g0066 a0003c0005t0004g0006 a0003c0005t0004g0120 a0009c0020t0001g0065	26	444	0.0586	-560	c.23 others(11): Show c.2350_*2909del	OR6B3	ENSG00000178586.7	transcript	ENST00000641019.2	protein_coding		2403		chr2	TogoVar
PDGFC_chr4_156755454_156976799	156759562	CATGGTCA others(553): Show CATGGTCAATGCACCTGGAGACAGGGATGCACCGAGGGACCAAACCACGG TCAATGCACCTGGAGACAGGGATGCACCGAGGGTAACCAAACCACGTTCA ATGCGCCTGGAGACAGGGATGCACCGAGGGTAACCAAACCACGGTCAATG CACCTGGAGACAGGGATACACCGAGGGTAACCAAACCATAGTCAATGCAC CTGGAGACAGGGATGCACCGAGGGTAACCAAACCATGGTCAATGCACCTG GAGACAGGGATGCACCGAGGGACCAAACCACGGTCAATGCACCTAGAGAC AGGGATACACCGAGGGTAACCAAACCATAGTCAATGCACCTGGAGACAGG GATACACCGAGGGTAACCAAACCATAGTCAATGCACCTGGAGACAGGGAT GCACCGAGGGTAACCAAACCACGTTCAATGCGCCTGGAGACAGGGATGCA CCGAGGGTAACCAAACCACGGTCAATGCACCTGGAGACAGGGATACACCG AGGGTAACCAAACCATAGTCAATGCACCTGGAGACAGGGATGCACCGAGG GTAACCAAACG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG03540.hp1 NA21309.hp2 HG02896.hp1 HG03540.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0023 a0001c0001t0002 a0001c0001t0023	a0001c0001t0002g0087 a0001c0001t0002g0178 a0001c0001t0023g0013 a0001c0001t0002g0087 a0001c0001t0002g0178 a0001c0001t0023g0013	3	208	0.0144	-560	c.29 others(11): Show c.2968_*3527del	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding		891		chr4	TogoVar
PLEKHG4B_chr5_87168_194966	165998	CCTCTGAC others(553): Show CCTCTGACGGGGCGGGGCTCACACTAATGCTCTGACGGGGCAGGGCTCAC ACTAATGCTCTGACGGGGCGGGGCTCACAGTAATCCTCTGACGGGGCGGA GCTCACACTAATGCTCTGACGGGACGGGGCTCACACTAATGCTCTGACGG GGCGGGGCTCACAGTAATCCTCTGACGGGGCGGAGCTCACACTAATGCTC TGACGGGGCGGGGCTCACAGTAATCCTCTGACGGGGCGGGGCTCACACTA ATGCTCTGACGGGGCGGGGCTCACACTAATGCTCTGACGGGGCGGGGCTC ACAGTAATCCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCG GGGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAATCCTCTGAC GGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGC TCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAG TAATCTTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGC TCACACTAATG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0046 a0001c0001t0028g0046	1	210	0.0048	-560	c.347 others(19): Show c.3476+2484_3477-2749del	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB31_chr18_9703301_9867551	9815290	ACTGTCCT others(553): Show ACTGTCCTCCATCCCTGAGTGTCATCCGTGTAGATGCTGTCCTCCATCCC TGAGTGTCATCCGTGTAGATGCTGTCCTCCATCCCTGAGTGTCATGCGTG TAGATGCTGTCCTCCATCCCTGAGTGTCATCCGTGTAGATGCTGTCCTCC ATCCCTGAGTGTCATCCGTGTAGATGCTGTCCTCCATCCCTGAGTGTCAT CCGTGTAGATGCTGTCCTCCATCCCTGAGTGTCATGCGTGTAGATGCTGT CCTCCATCCCTGAGTGTCATCCGTGTAGATGCTGTCCTCCATCCCTGAGT GTCATCCGTGTAGATGCTGTCCTCCATCCCTGAGTGTCATCCGTGTAGAT GCTGTCCTCCATCCCTGAGTGTCATCCGTGTAGATGCTGTCCTCCATCCC TGAGTGTCATCCGTGTAGATGCTGTCCTCCATCCCTGAGTGTCATCCGTG TAGATGCTGTCCTCCATCCCTGAGTGTCATCCGTGTAGATGCTGTCCTCC ATCCCTGAGTGTCATCCGTGTAGATGCTGTCCTCCATCCCTGAGTGTCAT CCGTGGAGATG	A A	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	322	0.0031	-560	c.380 others(15): Show c.380+163_380+722del	RAB31	ENSG00000168461.13	transcript	ENST00000578921.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
SLC7A1_chr13_29504414_29600688	29557969	GTGGGGGG others(553): Show GTGGGGGGAGTGAATGTGAATGAGGGGGAGTGAATGCGAATGAGGGGGAA AGTGAATGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGTATG GGGGGAGTGAATGTGAGTGGGGGGAGTGAATGTGAGTAGGGGGGAGTGAA TGTGAGTGAGGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGTGA GGGGGAGTGAATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGGGGAGTGA ATGTGAGTGAGGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGTG AGGGGGAGTGAATGTGAGTGAGGGGGGAGTGAATGTGAGTGAGGGGGAGT GAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGGAGTGAATGTGAA TGAGGGGGAGAGAATGTGAGTGAGGTGGAGAGAATGTGAGTGAGGGGGAG TGAATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGGGGAGTGAATGTGAG TGAGGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGA GAGAATGTGAA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01496.hp1 HG01943.hp1 others(23): Show HG01074.hp2 HG01496.hp1 HG01943.hp1 HG01952.hp2 HG02055.hp1 HG02155.hp1 HG02280.hp1 HG02572.hp2 HG02735.hp1 HG02886.hp1 HG02976.hp1 HG03098.hp1 HG03453.hp2 HG03579.hp1 HG03704.hp1 HG03942.hp2 HG04184.hp2 NA18522.hp1 NA18948.hp1 NA18970.hp2 NA18998.hp2 NA19030.hp2 NA19043.hp1 NA19057.hp2 NA19066.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0005 a0001c0003t0010 others(1): Show a0001c0003t0001 a0001c0003t0005 a0001c0003t0010 a0001c0003t0033	a0001c0003t0001g0070 a0001c0003t0005g0003 a0001c0003t0005g0071 others(21): Show a0001c0003t0001g0070 a0001c0003t0005g0003 a0001c0003t0005g0071 a0001c0003t0005g0072 a0001c0003t0005g0099 a0001c0003t0005g0136 a0001c0003t0005g0194 a0001c0003t0005g0195 a0001c0003t0005g0196 a0001c0003t0005g0198 a0001c0003t0005g0206 a0001c0003t0005g0208 a0001c0003t0005g0214 a0001c0003t0005g0217 a0001c0003t0005g0220 a0001c0003t0010g0081 a0001c0003t0010g0207 a0001c0003t0010g0209 a0001c0003t0010g0210 a0001c0003t0010g0211 a0001c0003t0010g0212 a0001c0003t0010g0213 a0001c0003t0010g0215 a0001c0003t0033g0060	26	330	0.0788	-560	c.-11 others(19): Show c.-114-4669_-114-4110del	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
TPD52L2_chr20_63860270_63896538	63879763	TCCCATCC others(553): Show TCCCATCCCCACTCTTAGGGCACAAATGCAGGTGCAGCTTTCCCATCCCC ACTCTTAGGGCACAAATGCAGGTGCAGCTTCCCCATCCCCACTCTTAGGG CACAAATGCAGGTGCAGCTTCCCCATCCCCACTCTTAGGGCACAAATGCA GGTGCAGCTTCCCCATCCCCACTCTTTAGGCACAAATGCAGGTGCAGCTT CCCCATCCCCACTCTTTAGGCACAAATGCAGGTGCAGCTTCCCCATCCCC ACTCTTAGGGCACAAATGCAGGTGCAGCTTCCCCATCCCCACTCTTTAGG CACAAATGCAGGTGCAGCTTCCCCATCCCCACTCTTTAGGCACAAATGCA GGTGCAGCTTTCCCATCCCCACTCTTAGGGCACAAATGCAGGTGCAGCTT CCCCATCCCCACTCTTTAGGCACAAATGCAGGTGCAGCTTCCCCATCCCC ACTCTTAGGGCACAAATGCAGGTGCAGCTTCCCCATCCCCACTCTTAGGG CACAAATGCAGGTGCAGCTTCCCCATCCCCACTCTTTAGGCACAAATGCA GGTGCAGCTTC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01928.hp1 HG01934.hp2 others(1): Show HG00741.hp2 HG01928.hp1 HG01934.hp2 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0196 a0001c0001t0002g0223 a0001c0001t0002g0225 others(1): Show a0001c0001t0002g0196 a0001c0001t0002g0223 a0001c0001t0002g0225 a0001c0001t0002g0289	4	368	0.0109	-560	c.375 others(17): Show c.375-2916_375-2357del	TPD52L2	ENSG00000101150.18	transcript	ENST00000346249.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
ZNF835_chr19_56656980_56676757	56669497	AGGGGCCT others(553): Show AGGGGCCTATCAGGAGTCCTCCATTAGCATAAATGTACTTGGGGGTCTAC CAGGAGTCCTCCATTAGCATAAATGTACTTGGGGGCCTATCAGGAGTCCT CCATTAGCATAAATGTACTTGGGGGCCTACCAGGAGTCCTCCATTAGCAT AAATGTACTTGGGGGCCTATCAGGAGTCCTCCATTAGCATAAATGTACTT GGGGGCCTATCAGGAGTCCTCCATTAGCATAAATGTACTTGGGGGTCTAC CAGGAGTCCTCCATTAGCATAAATGTACTTGGGGGCCTATCAGGAGTCCT CCATTAGCATAAATGTACTTGGGGGCCTATCAGGAGTCCTCCATTAGCAT AAATGTACTTGGGGGCCTACCAGGAGTCCTCCATTAGCATAAATGTACTT GGGGGCCTATCAGGAGTCCTCCATTAGCATAAATGTACTTGGGGGCCTAT CAGGAGTCCTCCATTAGCATAAATGTACTTGGGGGCCTATCAGGAGTCCT CCATTAGCATAAATGTACTTGGGGGCCTACCAGGAGTCCTCCATTAGCAT AAATGTACTTG	A A	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0006 a0004c0005t0006	a0004c0005t0006g0115 a0004c0005t0006g0115	1	450	0.0022	-560	c.-48 others(17): Show c.-48+1519_-48+2078del	ZNF835	ENSG00000127903.14	transcript	ENST00000537055.4	protein_coding	1/1			chr19	TogoVar
CACNG7_chr19_53904278_53948950	53920695	CTTGCTCC others(552): Show CTTGCTCCAGGTCTGGTCATTGGTGGAGCTGTCCCAGGCTGGTCATTGGT GGAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGCCCCAGGCTGGTCATT GGTGGACTTGCCCCAGGCTGGTCATTGGTGGAGTTGTCCCCAGGCCTGGT ATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGTCCCAGGTCT GGTCATTGGTGGAGTTGTCCCCAGGTCTGGTCATTGGTGGACTTGCCCCA GGCTGGTCATTGGTGGACTTGCCCCAGGCTGGTCATTGGTGGAGTTGCCC CAGGCTGGTCATTGGTGGAGTTGCCCCAGGCTGGTCATTGGTGGAGTTGC CCCAGGCCTGGTCATTGGTGGACTTGCCCCAGGTCTGGTCATTGGTGGAG TTGTCCCCAGGCCTGGTATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGT GGAGTTGCCCCAGGCTGGTCATTGGTGGACTTGCCCCAGGCTGGTCATTG GTGGAGTTGTCCCCAGGCCTGGTATTGGTGGAGTTGCCCCAGGTCTGGTC ATTGGTGGAG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00621.hp2 HG00738.hp1 others(27): Show HG00099.hp1 HG00621.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01256.hp1 HG01258.hp2 HG01433.hp1 HG01516.hp1 HG01975.hp2 HG02055.hp2 HG02258.hp1 HG02280.hp2 HG02300.hp2 HG02976.hp1 HG03834.hp1 HG04115.hp1 HG04199.hp2 NA18747.hp1 NA18950.hp1 NA18959.hp2 NA18975.hp1 NA19000.hp2 NA19060.hp1 NA19062.hp1 NA19065.hp2 NA19079.hp2 NA19090.hp1 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0007 a0001c0001t0001g0172 a0001c0001t0001g0245 others(26): Show a0001c0001t0001g0007 a0001c0001t0001g0172 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0313 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0338 a0001c0001t0002g0178 a0001c0001t0002g0264 a0001c0001t0002g0282 a0001c0001t0002g0314 a0001c0001t0002g0329 a0001c0001t0004g0054 a0001c0001t0004g0056 a0001c0001t0005g0055	30	364	0.0824	-559	c.424 others(17): Show c.424+5195_424+5753del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CDK5RAP1_chr20_33353839_33406519	33382899	GGCCAGGC others(552): Show GGCCAGGCACAGTGGCTCACACCTGTAATCCTAGCCCTTTGGGAGGCTGA GCCGGGTGAATCACCTGAGGTCAGGAGTTTGAGACTAAGCCTGGCCAACA TGGTGAAACCCCATCTCTACTAAAAATACAAAATTAGCTGGGTGTAGTGG TGCACACCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACT TGAACCTGGGAGGCGGAGGTTGCGGTGAGCCAAGATTGTGCCATTGCACT CCAGCCTGGGCAAAAAGAGCGAAACTCCATCTCAAAAATAAATAAATAAA TAAATAATAAAAAGATTTTTAAATGTTTAAAAAAGAAAATATCCTTATTT TTTAGAGATGCATACTGAAGGATGAAACAACATGCTCTACTTTGAAATAC GTTTTCAATAAGAAAAAAATAAATGAGGCCAGGCGTAGTGGGCTCACACC TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTTGAGATCA GGAGTTTGAGACCAGCCTAACATGGTGAAACCCCGTCTCTATTAAAAATA CAAAAATTAA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	358	0.0028	-559	c.876 others(17): Show c.876+2192_876+2750del	CDK5RAP1	ENSG00000101391.21	transcript	ENST00000346416.7	protein_coding	7/13			chr20	TogoVar
DLGAP2_chr8_732628_1713476	1388108	TGGGGAGG others(552): Show TGGGGAGGCTCTGGTTCAGGTGTCAGGGCTGTGAGAGGCAGAGGCAGTGG GTGGGGAGGCACTGGTTCAGGTGTCAGGGCTGTGAGAGGCAGAGACCGTG GATGAGGAGGCGCTGGTTCAGGTGTCAGGGCTGTAAGAGGCAGAGGCCGT GGATGAGGAGGCGCTGGTTCAGGTGTCAGGGCTGTGAGAGGCAGATGCCG TGGATGAGGAGGTGCTGGTTCAAGTGTCAGGGCTGTGAGAGGCAGAGGCC ATGGATGAGGAGGCGCTGGTTCAGGTGTCAGGGCTGTGAGAGCAGAGGCC GTGGATGGGGAGGCGCTGGTTCAAGTGTCAGGGCTGTGAGAGGCAGATGC CGTGGATGAGGAAGCGCTGGTTCAAGTGTCAGGGCTGTGAGAGGCAGAGG CCGTGGATGAGGAGGCGCTGGTTCAGGTGTCAGGGCTTTGAGAGGCAGAG GCAGTGGGTGGGGAGGCACTGGTTCAGGTGTCAGGGCTGTGAGAGCAGAG GCCGTGGATGGGGAGGCTCTGGTTCAGGTGTCAGGGCTGTGAGAGGCAGA CGCCGTGGAA	T T	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01496.hp1 HG01891.hp1 others(7): Show HG01071.hp2 HG01496.hp1 HG01891.hp1 HG02071.hp1 HG02074.hp2 HG02698.hp2 HG02818.hp1 HG03492.hp2 HG03710.hp1 HG03710.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 others(1): Show a0001c0002 a0001c0003 a0002c0001 a0002c0004	a0001c0002t0002 a0001c0002t0009 a0001c0002t0010 others(7): Show a0001c0002t0002 a0001c0002t0009 a0001c0002t0010 a0001c0002t0027 a0001c0003t0024 a0002c0001t0003 a0002c0001t0011 a0002c0004t0003 a0002c0004t0018 a0002c0004t0026	a0001c0002t0002g0021 a0001c0002t0009g0039 a0001c0002t0010g0008 others(7): Show a0001c0002t0002g0021 a0001c0002t0009g0039 a0001c0002t0010g0008 a0001c0002t0027g0023 a0001c0003t0024g0003 a0002c0001t0003g0022 a0002c0001t0011g0001 a0002c0004t0003g0009 a0002c0004t0018g0010 a0002c0004t0026g0016	10	40	0.2500	-559	c.107 others(21): Show c.107-113256_107-112698del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
GNG2_chr14_51855612_51974795	51911625	CCTCTAAC others(552): Show CCTCTAACTCTTGGGCTCATGTAATCCTCCCACCTCAGCCTCCTGGGTAG CTAAGACTACAGGTGTATGCCACCAAGCCTGGCTAATTTTTTAAAAAAAC ATTTATAGAGACAGGGTCTCACTATATTTCCCAGACCGGTCTCCAAACTC CTAGCCTCCAGTGATCTGCCTACTTTGGCCTCCCAAAGCACTGGGATTAC AGGCGTGAGCCACCATGCCCATCCTGATAGCCTTTTCTTATGTTTTTTTT TTTTGTTGTTATTGTTAGATTAAAGGAGTTGAATCATGAAAAGGGCTTTA TATAAAGTAATTGCTTAGTAAATGAAAAAAAGTATAGCTAATAGTGTCAG GCACTGTTCTAGGTACTTTACATATATTATTTACTCTTCACAAGCTCCCA GGAAATATGTGGTGGTGTTATCATCCCCACTTTCAAGATGAGGAAATGGA GGCACACAGGTTAAGTAACTTGCCCAGCATCACCTATTGAGTAAATGGCA GAACTGAGACTCAAACTTGGGCAGTGTGGCCCAGAGCCCAAGCTCTTGAC CACTTTGCTG	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00558.hp1 others(57): Show HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG01891.hp2 HG02080.hp2 HG02132.hp1 HG02135.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02615.hp2 HG02647.hp2 HG02683.hp1 HG02717.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03225.hp2 HG03239.hp1 HG03516.hp1 HG03688.hp2 HG04228.hp1 NA18941.hp2 NA18950.hp2 NA18955.hp2 NA18962.hp2 NA18963.hp2 NA18966.hp1 NA18971.hp1 NA18972.hp1 NA18974.hp2 NA18988.hp2 NA18991.hp2 NA18993.hp1 NA18995.hp1 NA18999.hp1 NA19002.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19054.hp1 NA19057.hp2 NA19068.hp1 NA19072.hp2 NA19082.hp1 NA19085.hp2 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0068 a0001c0002t0045	a0001c0001t0001g0057 a0001c0001t0001g0074 a0001c0001t0001g0114 others(57): Show a0001c0001t0001g0057 a0001c0001t0001g0074 a0001c0001t0001g0114 a0001c0001t0001g0136 a0001c0001t0001g0170 a0001c0001t0001g0242 a0001c0001t0001g0265 a0001c0001t0001g0273 a0001c0001t0001g0291 a0001c0001t0001g0301 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0066 a0001c0001t0002g0155 a0001c0001t0002g0237 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0314 a0001c0001t0002g0320 a0001c0001t0002g0329 a0001c0001t0002g0332 a0001c0001t0004g0041 a0001c0001t0004g0043 a0001c0001t0005g0011 a0001c0001t0005g0130 a0001c0001t0005g0302 a0001c0001t0005g0333 a0001c0001t0008g0042 a0001c0001t0010g0238 a0001c0001t0011g0165 a0001c0001t0011g0191 a0001c0001t0011g0248 a0001c0001t0011g0280 a0001c0001t0011g0339 a0001c0001t0013g0363 a0001c0001t0015g0044 a0001c0001t0015g0046 a0001c0001t0016g0133 a0001c0001t0016g0137 a0001c0001t0016g0139 a0001c0001t0016g0140 a0001c0001t0017g0045 a0001c0001t0020g0051 a0001c0001t0021g0156 a0001c0001t0021g0279 a0001c0001t0022g0364 a0001c0001t0023g0276 a0001c0001t0025g0058 a0001c0001t0025g0059 a0001c0001t0025g0063 a0001c0001t0035g0366 a0001c0001t0036g0380 a0001c0001t0037g0053 a0001c0001t0068g0065 a0001c0002t0045g0134	60	380	0.1579	-559	c.-30 others(19): Show c.-30+33970_-30+34528del	GNG2	ENSG00000186469.9	transcript	ENST00000556766.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr14	TogoVar
IDI1_chr10_1034419_1054119	1047011	CTGTCTAC others(552): Show CTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCC AGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACAC CACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCA CTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCC AGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACAC CACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCA CTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCC AGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACAC CACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCA CTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACTGTCTACACCAC ACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTG TCTGGTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00733.hp1 HG01081.hp2 others(46): Show HG00423.hp2 HG00733.hp1 HG01081.hp2 HG01346.hp1 HG01515.hp2 HG01884.hp1 HG01952.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02040.hp2 HG02132.hp1 HG02135.hp1 HG02148.hp1 HG02155.hp1 HG02258.hp2 HG02273.hp2 HG02451.hp1 HG02523.hp2 HG02615.hp1 HG02647.hp1 HG02735.hp1 HG02809.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03669.hp1 HG03704.hp1 HG04204.hp1 NA18951.hp1 NA18966.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18978.hp2 NA18980.hp2 NA18983.hp2 NA18986.hp1 NA18990.hp2 NA18992.hp1 NA19012.hp1 NA19070.hp1 NA19090.hp1 NA20129.hp2 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013 a0001c0001t0014 a0004c0007t0002	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(17): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0002g0039 a0001c0001t0002g0068 a0001c0001t0007g0086 a0001c0001t0008g0093 a0001c0001t0013g0095 a0001c0001t0014g0119 a0004c0007t0002g0078	49	438	0.1119	-559	c.140 others(17): Show c.140+1294_140+1852del	IDI1	ENSG00000067064.13	transcript	ENST00000381344.8	protein_coding	1/4			chr10	TogoVar
MYOM2_chr8_2040046_2150456	2085619	CCCCCACA others(552): Show CCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCG TGGCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTCGTGATCTCTT TGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATC TCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGT GATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTT GTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCAC TGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCCCC ACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCC CCCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGT GGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTCT TTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTGAT CTCTGCGTGG	C C	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0015 a0015	a0015c0057 a0015c0057	a0015c0057t0001 a0015c0057t0001	a0015c0057t0001g0156 a0015c0057t0001g0156	1	403	0.0025	-559	c.164 others(17): Show c.1644+236_1644+794del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
NXPE3_chr3_101774211_101833231	101802363	ATCCCAGC others(552): Show ATCCCAGCACTTTGGGAGGCTGAAACGGGAGGATCGCTTGAGCCCAGGAG TTTGAGACCAGCCTGGGCAACATAGCAAGACCCCATCTATTTTATGTAAA GAAAAAAATAATCCAAGAACAGGGCTGGTAGGGCTGGTAGTCAGGCTGGT GTTTTATCTTTGTATCTAATGAACTGAAACTTTAAAAAGTAACATAATAA CAGTTTTTAAAATCATTTGAACCTACTGATTAAAAAACTATGAATATGGC AACATTGCTGGGTTGACTTAATAAGCATAGGAAGTCAGGAATACCACAGA AAACTATATTTTTTAAGCTAAATAGTTGTTGAAATTATTGCAGTATTGTG TTCAAATTTCTATTTCAAATGTAAGCTTAAAATATTTTCAGCATGATGAG AAATACATGGAATAATGTGCAGAAAGGAATATGGAACCAGTATGAATTAA AATTTGTGTTTTCTTCAACATTCCATAACATCACTAAGAAATAAAAAATT ATAAAAGCTACATGGTTAAAAAGTACCATGCTGGCCAAGCGTGGTGGCTC ATGACTGTAG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02965.hp1 HG03139.hp1 others(2): Show HG02055.hp1 HG02965.hp1 HG03139.hp1 HG03486.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0044 a0001c0001t0014 a0001c0001t0044	a0001c0001t0014g0001 a0001c0001t0014g0031 a0001c0001t0014g0032 others(1): Show a0001c0001t0014g0001 a0001c0001t0014g0031 a0001c0001t0014g0032 a0001c0001t0044g0030	5	380	0.0132	-559	c.848 others(15): Show c.848+397_848+955del	NXPE3	ENSG00000144815.18	transcript	ENST00000273347.10	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
OAS3_chr12_112933474_112978251	112933858	TCCTGGGC others(552): Show TCCTGGGCTACAGAGCGAAACTGTCAAAAAAAAAAAAAAAAAAAGGCACA AAAACAAGCAGAGGCTGGACCAGATGTGGCCCATGGGCCATAGTTTGCCA GTTTCTTCCAACATTTCATTAAGAAAAATTTCCAAGCAAACAGCCACATT GAAAGAATTTTGCAGTGAACACTCATATACTCACCACATAGATTTTACAA TTAACGTTTTATTGCACTTGCTTGATTGCATATCTACAATTTCTTCATCC TTCTATCCATCCATGAATCCATCTTATTCTTTTGATGCATCAGAAGATTC TTTTTCTGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTCGGGA AGCCAAGGCCGTTGGATCACCTGAGGTCAGGAGTTCGAGACCACCCTGGC CAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGACA TGGTGGCACACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGA ATTGCTTAAACCTGGGAGGCAGAAGTTGCAGTGAGCCGAGACCACACTGC TGCACTCCAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0011 a0006c0010t0011	a0006c0010t0011g0023 a0006c0010t0011g0023	1	370	0.0027	-559	c.-46 others(11): Show c.-4672_-4114del	OAS3	ENSG00000111331.14	transcript	ENST00000228928.12	protein_coding		4615		chr12	TogoVar
PCMT1_chr6_149744741_149816419	149762543	TCTATGAT others(552): Show TCTATGATATATATATATCTATGATATATATATCTATGATATATATATCT ATGATATATATATCTATGATATATATATATCTATGATATATATATATCTA TGATATATATATGATATATATATCTATGATATATATATATCTATGATATA TATATATCTATGATATATATATCTATGATATATATATCTATGATATATAT ATATCTATGATATATATACCTATGATATATATATACCTATGATATATATA CCTATGATATATATATCTATGATAATCTATGATATATATGATATATATAT CTATGATATATATCTATGATATATATATCTATGATATATATGTTATATAT ATCTATGATATATATCTATGATATATATATCTATGATATATATGATATAT ATATCTATGATATGTATATCTATGATATATATGATATATATATCTATGAT ATATATGATATATATATCTATGATATATATGATATATCTATGATATCTAT GATATGTATATCTATGATATATATATCTATGATATGTATATCTATGATAT ATATGATATA	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	334	0.0030	-559	c.56- others(15): Show c.56-8618_56-8060del	PCMT1	ENSG00000120265.21	transcript	ENST00000464889.7	protein_coding	1/7			chr6	TogoVar
SDHA_chr5_213320_262082	261523	GCATTACC others(552): Show GCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTC CGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCAT TACCGTGTGAGCTCCGCCTCCCCACAGAGCATTACCGTGTGAGCTCCGCC TCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCATTACC GTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGTGTGAGCTCCGCCCCCC GCCAGAGCATTACCGTGTGAGCTCCGCCCCCCGACAGAGCATTACCGTGT GAGCTCCGCCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTC AGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAG CTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAG CATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCC GCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATT ACCGTGTGAG	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	266	0.0038	-559	c.51 others(11): Show c.5104_*5662del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4442		chr5	TogoVar
SKI_chr1_2223319_2315213	2281476	CGAGAGGA others(552): Show CGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAGG ACAGGCGGTGGTGGAGATCTTCATAGAGAGGACGCCCGAGAGGACAGGCG GTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGG AGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTT CAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAG AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGC CCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAG GACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGC GGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGCG GAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCT TCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGA GAGGACGCCC	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0251 a0001c0001t0003g0251	1	330	0.0030	-559	c.970 others(19): Show c.970-21497_970-20939del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
TEX29_chr13_111315642_111349248	111340888	TCTGTGCT others(552): Show TCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGC TTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGA TGAAAATAATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAAT CATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACC CCTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTT AGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGC ACCTGTGCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCACCTGTG CTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTG ATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACA TCATAACCCATGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAAC CCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTT TAGTGAGCAC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02257.hp1 HG01167.hp2 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0064 a0001c0002t0001g0162 a0001c0001t0001g0064 a0001c0002t0001g0162	2	416	0.0048	-559	c.239 others(17): Show c.239+1063_240-1203del	TEX29	ENSG00000153495.11	transcript	ENST00000283547.2	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
UBE2V2_chr8_48003431_48069708	48055361	AGCTAATT others(552): Show AGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCA GGCTGGTCTTGAACTCCTGATTTCAGGCGATCCACCCACCTCAGCCTACC AAAGTGCTGGGATTACAAGTGTGAGCCATTGCGCCTGCTGTTAGTTTCTA AAATAAATATCACTCTAAAATTATTTTTCTTTTCTACTTTCAAACACTTT TATGGTGATATAATTCACATACCATACAATTCACCCATTTAAAGGGTAAA ATTCAAGGGTTTTTAGTATTCACAACATTGTGGAATCACTGCCATGACCC AGGTTTGGAACATTTTTGTTCTTCCCAAAGCAAATCTGTGCCCATCAGTT GTCATTTCCCATCCCATCTCCCTTAGACCTAAACAACCATTAATCCACTT TCTGTCTTTTTTTTTTTTTTTTGAGGCAGAGTCTCACTCTGTCGCCCAGG CTGGAGTGCAATGGCTTGGCTCACTGCAAGCTCTGCCTCCTGGGTTCATG CCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCC ACCACACGGG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0214 a0001c0001t0003g0214	1	242	0.0041	-559	c.292 others(17): Show c.292-5281_292-4723del	UBE2V2	ENSG00000169139.12	transcript	ENST00000523111.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
ZNF516_chr18_76352682_76500242	76392673	AGGTGGAT others(552): Show AGGTGGATGGGAAGGCAGGTGACCAGGTGGGGGAAAGGTGGATGGGAAGG CAGGTGACCAGGTGGGGGAAAGGTGGATGGGAAGGCAGGTGACCAGGTGG GGGAAAGGTGGATGGGAAGGCAGGTGGCCAGGTGGGGGAAAGGCAGGTAG TCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTG GTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCA GGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTG GGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGG GAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAGGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGGAG	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0018 a0018	a0018c0023 a0018c0023	a0018c0023t0069 a0018c0023t0069	a0018c0023t0069g0101 a0018c0023t0069g0101	1	346	0.0029	-559	c.181 others(21): Show c.1811-12929_1811-12371del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393752	GGGTGGTC others(552): Show GGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTC AGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGG TGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGG TGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGGAGGGCA	G G	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0161 a0003c0007t0161	a0003c0007t0161g0179 a0003c0007t0161g0179	1	346	0.0029	-559	c.181 others(21): Show c.1811-14008_1811-13450del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
AHRR_chr5_316714_443285	357592	GGAGTGGA others(551): Show GGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAG GAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAG TCAGCGACTGGGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGT CCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCGT CAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCG AGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGA AGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTC AGCGACTGGGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGACACGGAGTCC ACCCGGGCAGTCAGCGACTGGGGAAGAGCGCCCGGGAGTGGAGGCCCTCA GTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAG TGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGGGGAAG AGCGCCCGC	G G	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0004 a0003c0004t0004g0004	1	268	0.0037	-558	c.244 others(17): Show c.244+3755_244+4312del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	357888	AGGAAGAG others(551): Show AGGAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGC AGTCAGCGACTGGGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGACACGGA GTCCACCCGGGCAGTCAGCGACTGGGGAAGAGCGCCCGGGAGTGGAGGCC CTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCG CGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGGG GAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAG TCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCGTCAGTCACGGAGT CCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCCT CAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGGG AGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGGGGA AGAGCGCCCGCGAGTGGAGGCCCTCAGACACGGAGTCCACCCGGGCAGTC AGCGACTGG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0254 a0001c0001t0013g0254	1	268	0.0037	-558	c.244 others(17): Show c.244+4039_244+4596del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	358012	GGGAAGAG others(551): Show GGGAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGC AGTCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGA GTCCACCCGGGCAGTCAGCGACTGGGGAAGAGCGCCCGCGAGTGGAGGCC CTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCG CGAGTGGAGGCCGTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAG GAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAG TCAGCGACTGAGGAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGT CCACCCGGGCAGTCAGCGACTGGGGAAGAGCGCCCGCGAGTGGAGGCCCT CAGACACGGAGTCCACCCGGGCAGTCAGCGACTGGGGAAGAGCGCCCGGG AGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGA AGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTC AGCGACTGA	G G	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0140	1	268	0.0037	-558	c.244 others(17): Show c.244+4127_244+4684del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	358774	TGGAGGCC others(551): Show TGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGGGGAAG AGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAG CGACTGGGGAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGTCCAC CCGGGCAGTCAGCGACTGGGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGT CACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAGTG GAGGCCGTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAG CGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCG ACTGAGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCC GGGCAGTCAGCGACTGAGGAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCA CGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAGTGGA GGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGGGGAAGAGCG CCCGCGAGG	T T	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0004 a0003c0004t0004g0004	1	268	0.0037	-558	c.244 others(17): Show c.244+4907_244+5464del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
CCND2_chr12_4268762_4310353	4279606	CCACAATT others(551): Show CCACAATTGATACATCATTCCTACTGGCCCATTTGTTTTGTAGTTTCCTA ATAAACCAAAGGCAGTGGTTTGCTGTTGTCTTATTAAACAGCCTTGGCCA GTGTCTACTGGTTTTTTGTTTTTTTTTTTCTTGGTAGTGGCCATGGCAGA GACCCTGGAACCTTACTCATCCAAGGGAGAGATGTCAGGAGTTCATGTTT TGACAATCAGAAACCTTAGGTAAAAAGCTGATCACTTGGGAAGACCTTTC GGTGTGCTTCACCTCAAATTTGCCAAGAGTAGTTAAATCGCTAGGTGGAC TCACGTGGTAACTTTTTTCAGGATGTTGTTACATGTTACTGGTGAGTTCT ACGGAACGGATGATTATATAACGTACGATGTAGTGCATATGCCCTGTGCT CACAGTCAAAAAGTCAGGCTTTGCTGCATATCAGTGAGTGACCTTTAATT GGCTGCTTAACCTCTCTGAACCCGAGCTTCTTCATCTCCAAAACAAGCCT ATTGATACATCATCCTACAGCCTTTTCAGAGCAGCTAGGAAAATTAAAAT CAGAAAGAG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00621.hp1 others(34): Show HG00408.hp2 HG00423.hp2 HG00621.hp1 HG00735.hp2 HG02027.hp1 HG02056.hp1 HG02083.hp2 HG02132.hp1 HG02165.hp2 HG02523.hp2 HG03017.hp1 HG03490.hp2 HG03492.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18943.hp2 NA18947.hp2 NA18954.hp1 NA18955.hp1 NA18959.hp2 NA18966.hp1 NA18977.hp2 NA18981.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18994.hp1 NA19005.hp2 NA19057.hp1 NA19065.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0018 a0001c0001t0030 a0001c0001t0032 a0001c0001t0053 a0001c0001t0060 a0001c0001t0078 a0001c0001t0079 a0001c0001t0082 a0001c0001t0083	a0001c0001t0001g0185 a0001c0001t0001g0201 a0001c0001t0001g0328 others(32): Show a0001c0001t0001g0185 a0001c0001t0001g0201 a0001c0001t0001g0328 a0001c0001t0002g0034 a0001c0001t0002g0184 a0001c0001t0002g0195 a0001c0001t0002g0198 a0001c0001t0003g0032 a0001c0001t0003g0188 a0001c0001t0003g0196 a0001c0001t0003g0200 a0001c0001t0006g0033 a0001c0001t0006g0197 a0001c0001t0006g0203 a0001c0001t0006g0204 a0001c0001t0006g0344 a0001c0001t0006g0354 a0001c0001t0006g0375 a0001c0001t0008g0199 a0001c0001t0011g0202 a0001c0001t0012g0329 a0001c0001t0014g0189 a0001c0001t0014g0190 a0001c0001t0014g0192 a0001c0001t0014g0194 a0001c0001t0018g0088 a0001c0001t0030g0186 a0001c0001t0030g0187 a0001c0001t0032g0054 a0001c0001t0053g0033 a0001c0001t0060g0056 a0001c0001t0078g0191 a0001c0001t0079g0193 a0001c0001t0082g0034 a0001c0001t0083g0353	37	460	0.0804	-558	c.571 others(16): Show c.571+688_571+1245del	CCND2	ENSG00000118971.9	transcript	ENST00000261254.8	protein_coding	3/4			chr12	TogoVar
DCC_chr18_52335197_53540899	53085986	CTTCTCCT others(551): Show CTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCTTCTCCTTCTCCTTCTCCCTCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCTTCCTCTTCTCTTCCTCTTCTCTTCTTCTTCT TTTCTTCTTCTTCTTTTCTTCTTTCCTTCCCTTCTTCTTCTTCCGTTCTT CTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTC TTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCT TCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTT CTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTC TTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCT TCTTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTTCTTCTTCCTTCTTCT TCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0100 a0001c0003t0012g0100	1	114	0.0088	-558	c.126 others(21): Show c.1261+19825_1261+20382del	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DPH7_chr9_137549444_137583925	137565684	TGGATGAC others(551): Show TGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTC TGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCC GGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCG	T T	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0292 a0001c0001t0002g0292	1	340	0.0029	-558	c.641 others(16): Show c.641-1088_641-531del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567966	TCTGTCTG others(551): Show TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02886.hp2 HG02895.hp2 others(4): Show HG01123.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG02970.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0020 a0001c0001t0002g0256 a0001c0001t0002g0257 others(3): Show a0001c0001t0002g0020 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0303 a0001c0001t0002g0313 a0001c0001t0006g0314	7	340	0.0206	-558	c.641 others(17): Show c.641-3370_641-2813del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar

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Search Results (Total: 10000 hits)