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
CNN2_chr19_1021608_1044065	1034462	CGGTGTCT others(517): Show CGGTGTCTGGTGTAGACCGGCAGCGTGGGTGGGACACGGTGTCTGGTGTA GACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGCAGCGTGGGT GGGACACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGACGGTGTCTGG TGTAGACCGGCAGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGC GTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGT GTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGG GAGCGTGGGTGGGACACATTGTCTGGTGTAGACCGGGAGCGTGGGTGGGA CGGTGTCTGGTGTAGACCGGGAGCATGGGTGGGACACGGTGTCTGGTGTA GACGGTAAGCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGG GTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCT GGTGTAGACCGGGAGCGTGGGTGGG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02451.hp2 HG02895.hp2 others(2): Show HG01243.hp1 HG02451.hp2 HG02895.hp2 HG03834.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0022 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0022 a0001c0001t0025 a0001c0001t0030	a0001c0001t0001g0227 a0001c0001t0006g0092 a0001c0001t0022g0061 others(2): Show a0001c0001t0001g0227 a0001c0001t0006g0092 a0001c0001t0022g0061 a0001c0001t0025g0056 a0001c0001t0030g0253	5	390	0.0128	-524	c.391 others(17): Show c.391-1667_391-1144del	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6			chr19	TogoVar
CTCFL_chr20_57492166_57530140	57525453	CCTGCAGG others(517): Show CCTGCAGGGGCACGGAAATACCTTGGGGTTGAAGTGGATGAGGAAGGGAG GAGGGCCCCGCAGGGGGCGCTGGGAGACCCGGGGGGGAAGTAAGGAGGGC ACGAGGGCCTGCAGGGGGCCTGGGAGATCTGAGGGGGAATGGATAAGGAG GGGAGGAGGGCCCACAGGAGGCACTGAGATACTGGGGGGAGGGGTGGAAT GAGGGGGGGAGGGGTGGAATGAGGCGGGGAGGATAGCCCTGCAGGGGGGC TGGGAGACCTGAGGGGGGTGGTGGGTAATGGATAAGGAGGGGAGGGGGGC CTGCAGGGGGCCTGTGACACCTAGGGGAGGGGAATGGATAAGGAGGGTAG GAGGGCCAACAGGAGGCACTGAGATACCAGGGGGAGGGGTGGAATGAGGA GGGGAGAGCCCTGCAGGGGGGCGGGGAGACCTGAGGTGAGGGTAATGGAT AAGGAGGGGAGGAGGGTCTGCAGGGGTTCTTGGGAGACCTGGGGGATGAA TAGGAGAGGACAAGGGGAGGAGGGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0018 a0018	a0018c0018 a0018c0018	a0018c0018t0002 a0018c0018t0002	a0018c0018t0002g0211 a0018c0018t0002g0211	1	424	0.0024	-524	c.-96 others(9): Show c.-961_-438del	CTCFL	ENSG00000124092.13	transcript	ENST00000243914.8	protein_coding		314		chr20	TogoVar
CWF19L1_chr10_100227298_100272638	100247805	AGAATCGC others(517): Show AGAATCGCTTGAACATGGGAGGTGGAGGTTGCAGTAAGCCGAGATCGTGC CACTACACTCCAGCCTGGGCAATAGACAGAGACTCCATCTTAAACAAACA AACAAAAACTTTGACTTGATCCAGTGAGAAATATGGAGGGGGAAAAAAAA AAACACTGCTGGGGTAGGGGTATAAATTGGAACAAAGTTTTTAGATGAAT TTAACAATGCTTGCCAAATTTTATAATGTGCACACCTTTTGACGAAAGTA TAAGTTGCTTATGGCTGAGGCTAACATGTCCCTGAGAATAAAACAGACTG AAAATACTAAGTGTTATTCAGTTTGAAAGGGCAATTAAAAGAAAAATTAC AAATCTACATTTGCTAAGAATTGGGCAAAAAAGCTGAAAATAGGCTGGGG AATTTATGTGGAGGTCAGAGTGGAAGCAGGTATGAAAGGGTCCAGCAGAA GAAAACATGGCTGCCAAAGTGTTTTGAGTCCGTTGGCAAGTTTGGCCTGG CCTTAGCTGTTGCAGGAGACGTGGT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0264 a0006c0012t0001g0264	1	364	0.0028	-524	c.709 others(16): Show c.709-1394_709-871del	CWF19L1	ENSG00000095485.18	transcript	ENST00000354105.10	protein_coding	7/13			chr10	TogoVar
DMD_chrX_31114222_33216549	31328245	AGAAGTAT others(517): Show AGAAGTATATTTACTTGATTAAAGGCTATGAATGTTTTAAAAACATTTTA CATAAATTACACTTATGGCAGCAGAAGCCTCTCTTTATTGATATAAGTGT AAAGAGAAAAATCAATTTTCTGCAGGTCAATAGTATTTAGTTGGCATAAT TCTCAAAGCAAGTTAGATATACTGCTTGATACAGTAGATTATTTGGGAAC ATTCCTCTCACACTCTCCTCTTCCCCTGATAGACTGTAAAACTCAGAGTT TAGAAAGGCACTCAGGATGTTGGCTTTCTATTTCAAAGCCCAATCCAGCA TCTTGAGAGGGAGCTGGATATAGCAGAAAATGTCCAGAGTACAGATTCAG AAGAACTGGATTTGAGTCCTGACTCCCCTATCACTTCATGATCTTAAGCT AGTCTTTTTCCTGCCTAAGCCTTATTTTCCTTATATTCCAATGGGAATAA TGATATCTCCCTCACCAAAATGTTGTCAGGATAAAATGAGGAAATCAATA TGAAATTGCTTTGTAAAATGTTAAT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03486.hp2 HG02965.hp1 HG03486.hp2	a0002 a0028 a0002 a0028	a0002c0052 a0028c0046 a0002c0052 a0028c0046	a0002c0052t0025 a0028c0046t0029 a0002c0052t0025 a0028c0046t0029	a0002c0052t0025g0095 a0028c0046t0029g0126 a0002c0052t0025g0095 a0028c0046t0029g0126	2	126	0.0159	-524	c.916 others(19): Show c.9164-5111_9164-4588del	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	61/78			chrX	TogoVar
DPH7_chr9_137549444_137583925	137565782	TCTGTCTG others(517): Show TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG03098.hp1 HG00099.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0101 a0001c0001t0003g0244 a0001c0001t0001g0101 a0001c0001t0003g0244	2	340	0.0059	-524	c.641 others(16): Show c.641-1152_641-629del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
EEA1_chr12_92765637_92934295	92816781	CCATCTCT others(517): Show CCATCTCTAACTCCAGCCAATCACTGATTTGGTTAAGTAATAAGTTTTCT TTATATATTCTGGGCATTTCTGAATTGTCAGATACACATACTGCAAATGT TTTCTCCCATTCTGTGTTACGGCTTTTATTTTCATAATGGTATCTTTTGA AAAGCATACTTTTTTTTAATTTAGATGAAATCCAAGTCATTTGATATTTC TTTGATGTACCTTGCTTTTGAGTTCACCAAGCTTTTTGACCATGTTTTTA ACCAAAAATTAAAGTTTTTTCATTTGCATCCATTGAAATTTTAAAAATTA AAATTTTTTCAGCCAGTTTCTATTTTCCTCCTCCCCACCCTTCTGTGACA TTAATTGTACTTATGCTAGCTTACATAATACTATCCCATGGGTCACTAAG GTACTGTGTTTTTTTCCCCATCCTTTTTTCCCTCTGTACTTCATTGTGAA CAGTTTCAACTGCCTTGTCTTTTACGTTCACTGATATTGCTTTCTACTTG CTTAATCTATTAAGTACATCCAATA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02630.hp1 HG02647.hp2 others(6): Show HG02109.hp1 HG02630.hp1 HG02647.hp2 HG02723.hp2 HG03098.hp2 HG03453.hp2 HG03471.hp2 HG03540.hp1 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0010 a0001c0011 a0001c0002 a0001c0010 a0001c0011	a0001c0002t0039 a0001c0002t0040 a0001c0002t0046 others(2): Show a0001c0002t0039 a0001c0002t0040 a0001c0002t0046 a0001c0010t0006 a0001c0011t0006	a0001c0002t0039g0215 a0001c0002t0040g0223 a0001c0002t0046g0217 others(6): Show a0001c0002t0039g0215 a0001c0002t0040g0223 a0001c0002t0046g0217 a0001c0010t0006g0218 a0001c0010t0006g0219 a0001c0010t0006g0220 a0001c0010t0006g0221 a0001c0011t0006g0216 a0001c0011t0006g0222	9	244	0.0369	-524	c.172 others(17): Show c.1729-905_1729-382del	EEA1	ENSG00000102189.17	transcript	ENST00000322349.13	protein_coding	14/28			chr12	TogoVar
EXOC2_chr6_480154_698139	601850	CCACACAC others(517): Show CCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACAT TCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCA AGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCC GTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAAT CCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACAT TCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCA AGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCC GTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAAT CCACACACATTCTCACACCAAGAACACCCCGTCTGCGAATCCACACACAT TCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCA AGAACACCCCGTGTGCGAATCCACA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00609.hp1 HG00673.hp2 others(20): Show HG00280.hp2 HG00609.hp1 HG00673.hp2 HG00738.hp1 HG01123.hp1 HG02040.hp1 HG02135.hp1 HG02602.hp1 HG03834.hp2 NA18612.hp2 NA18747.hp2 NA18942.hp2 NA18947.hp2 NA18948.hp1 NA18962.hp1 NA18972.hp2 NA18980.hp1 NA18982.hp1 NA18988.hp2 NA18999.hp1 NA19072.hp2 NA19075.hp1 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0006 a0001c0001 a0001c0002 a0003c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0002t0001 a0001c0002t0004 a0001c0002t0010 a0003c0006t0004	a0001c0001t0001g0046 a0001c0001t0001g0203 a0001c0001t0001g0244 others(20): Show a0001c0001t0001g0046 a0001c0001t0001g0203 a0001c0001t0001g0244 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0003g0074 a0001c0001t0003g0241 a0001c0001t0003g0245 a0001c0001t0003g0257 a0001c0001t0004g0145 a0001c0001t0004g0251 a0001c0001t0005g0195 a0001c0001t0005g0256 a0001c0001t0005g0258 a0001c0001t0006g0255 a0001c0001t0010g0144 a0001c0002t0001g0114 a0001c0002t0004g0113 a0001c0002t0010g0248 a0003c0006t0004g0236 a0003c0006t0004g0242 a0003c0006t0004g0243 a0003c0006t0004g0254	23	272	0.0846	-524	c.743 others(17): Show c.743-3149_743-2626del	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	7/27			chr6	TogoVar
FDXACB1_chr11_111869056_111884165	111881816	TAGGAGAT others(517): Show TAGGAGATATAATGCAGACTTAAAGAACTCTAATGTATGGTAAAAAGTTA TAAATACAGGGAAAGATAAAGTTTTATGTGAGTTGAAAGAGAAGCTAACT TCAGGGAAGGCATCATTTGAGCTAGAAGGAAGGAAATGATCATTTATTAC TCATTTATTGTGTTATCTAGTTACTCAACTCTCACTTCTTTTTGTTCTCT TTGACTGTAGCAGTGCTTTTAGTCCCTCAATGCCTACATCTCAAAATTAC CTTAAAAATTTAGCTAATTCTCCATATTGTATTGGGAATACTGAAGTTTT TCCTGTCTCTTCACGGGGCCTGGGGAGCGGGGGTGTGGATTTAATCCATG TAGTCACCCACTGTTGCTGATTGAAAGAATGGATCAAAGGGTCCCAGGAC TTAGAGAAGAAGAAACAGAACCATAACATAGCCTGGATCATTAGTACGGT GTGCTTGTGTTATACCTGGCTATGTAAAACAAGGGCAGGAAAAGATGCTT TTTCTCTTCTCTGGTTTATGCAATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0004 a0002c0003t0002g0004	1	392	0.0026	-524	c.-32 others(11): Show c.-3208_-2685del	FDXACB1	ENSG00000255561.7	transcript	ENST00000260257.9	protein_coding		2652		chr11	TogoVar
LMNB2_chr19_2423166_2461959	2432909	GGCCCCGT others(517): Show GGCCCCGTCACCCTGACCCTGGTCACCCCATCAGCTGGGTCACCCCGTTA CCCCCATGCCCCGGTCTTTCCGGTCACCTTGTCCCCTGCCTCGCATTGGC CGGCGGCCCCGTCACCCTGACCCTGATCACCCCCATCAGCTGGGTCACCC CGTTACCCCCATGCCCCGGTCATTCCAGTCACCTTGTCCCCTGCCTCGCA TTGGCCGGCGGCCCCGTCACCCTGATCCTGGTCACCCCCATCAGCTGGGT CACCCCGTTACCCCCATGCCCCGGTCTTTCCGGTCACCTTGTCCCCTGCC TCGTATTGGCCGGCGGCCCCGTCACCCTGACCCTGATCACCCCCATCAGC TGGGTCACCCCGTTACCCCCATGCCCCGGTCATTCCGGTCACCTTGTCCC CTGCCTCGTATTGGCCGGCGGCCCCGTCACCCTGACCCTGATCACCCCCA TCAGCTGGGTCACCCCGTTACCCCCATGCCCCAGTCATTCCGGTCACCTT GTCCCCTGCCTCGCATTGGCCGACA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00438.hp2 others(80): Show HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00621.hp2 HG00673.hp2 HG01069.hp2 HG01071.hp2 HG01106.hp1 HG02015.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02145.hp1 HG02165.hp2 HG02258.hp2 HG02451.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02886.hp1 HG02897.hp2 HG03041.hp2 HG03239.hp1 HG03486.hp1 HG03490.hp2 HG03704.hp1 HG03942.hp2 HG04204.hp1 NA18612.hp2 NA18747.hp2 NA18940.hp2 NA18941.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp2 NA18952.hp1 NA18954.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp2 NA18964.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp2 NA18984.hp2 NA18990.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19005.hp1 NA19007.hp2 NA19010.hp1 NA19030.hp1 NA19054.hp1 NA19056.hp2 NA19063.hp2 NA19064.hp2 NA19066.hp2 NA19070.hp1 NA19079.hp1 NA19082.hp2 NA19085.hp1 NA19088.hp2 NA20300.hp1 NA20905.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0009	a0001c0001 a0002c0003 a0005c0013 others(1): Show a0001c0001 a0002c0003 a0005c0013 a0009c0016	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(10): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0002c0003t0001 a0002c0003t0002 a0002c0003t0008 a0005c0013t0008 a0009c0016t0002	a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 others(72): Show a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0037 a0001c0001t0002g0045 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0263 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0003g0084 a0001c0001t0004g0077 a0001c0001t0004g0217 a0001c0001t0008g0056 a0001c0001t0008g0089 a0001c0001t0012g0082 a0001c0001t0012g0083 a0001c0001t0013g0091 a0001c0001t0013g0092 a0001c0001t0015g0061 a0001c0001t0016g0080 a0002c0003t0001g0028 a0002c0003t0002g0003 a0002c0003t0002g0006 a0002c0003t0002g0030 a0002c0003t0002g0031 a0002c0003t0008g0029 a0005c0013t0008g0281 a0009c0016t0002g0308	83	356	0.2332	-524	c.148 others(17): Show c.1482+393_1483-387del	LMNB2	ENSG00000176619.13	transcript	ENST00000325327.4	protein_coding	8/11			chr19	TogoVar
P2RX5_chr17_3668227_3701155	3685648	GCGTCCCC others(517): Show GCGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAG GGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACAGC GGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTGAG AACAGGAGAACACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCG CCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGG ACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAGAACAC ACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAA CAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCC CCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACC CTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACA GCGGGGCCCCCAGGGACCCTCCCAA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03098.hp1 HG02886.hp1 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0220 a0002c0002t0001g0221	2	362	0.0055	-524	c.981 others(17): Show c.981+1840_981+2363del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
P2RX5_chr17_3668227_3701155	3685809	ACACAGCG others(517): Show ACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCCGCCC AGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAAC GTCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAGAACACACAGCGGGGCC CCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGC ACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGC CTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTC CCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCC AGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACA GCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTC AGAACAGGAGAACACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCC CTCCCAGCCTGAGAACAGGAGAACG	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02895.hp1 HG02886.hp2 HG02895.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0190 a0002c0002t0001g0216 a0002c0002t0001g0190 a0002c0002t0001g0216	2	362	0.0055	-524	c.981 others(17): Show c.981+1679_981+2202del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
PRR5_chr22_44697204_44742681	44717193	TTTTTTTT others(517): Show TTTTTTTTTTTTTTTTGAGACGTAGTTTCACTGTTGTTGCCCAGGCTGGA GTGCAGTGGTGCGATCTCAGCTCACTGCGACCTCCGCCTCCCGGGTTCAA GCGATTCTCCTGCCTCGGCCTCCTGAGTAGCTGGGATTACAGGCACACAT CACCACGCCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCA TGTTGGCCAGGCCGGTCTCAAACTCCTGACCTCAGATGATCCACCCGTCT CAGCCTCCCAAAGTGCTGGGATTCCAGGCGTGAGCCACCATGCCCGGTAT CCAGGAGATTTTCATCACCCCAGCAAGAAGGCTTTAGCAGCCCTCCTCAT TACCCTTTCCCCAGCCCTGGCATTGACCACAGACAGCTTTCTGTCTGTGG ATGTGCCTATTCTGGACATTCCATATCAATGGAGGTAGAGCAGGTAGCCC TTCACGCCTGGCTTCTCTCACTCAGTGCAGTGCTCTTGAGGTCCGCTCAG GGAGGAGTACTTACCCCTGCTTTGC	T T	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0110 a0001c0004t0004g0110	1	442	0.0023	-524	c.215 others(17): Show c.215+2538_215+3061del	PRR5	ENSG00000186654.21	transcript	ENST00000336985.11	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr22	TogoVar
SLC12A7_chr5_1045384_1117063	1072554	CAGCCCCA others(517): Show CAGCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAG TGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCC CAGTGAGCCCCCAGTGAGCCCCCAGCACACTGGCATCACACTTATGCAGC CCCCAGTGAGCCCCCAGCACACGGTATCACACTTATGCAGCCCCCAGTGA GCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAG TGAGCCCCCAGCACACGGTATCACACTTATGCAGCCCCCAGTGAGCCCCC AGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCC CCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGA GCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAG CACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGG CATCACACTTATGCAGCCCCCAGTG	C C	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA19011.hp2 NA18967.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0116 a0001c0001t0001g0109 a0001c0001t0001g0116	2	118	0.0170	-524	c.224 others(18): Show c.2241+555_2241+1078del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
TCF25_chr16_89868592_89916379	89901367	AGCTGTGA others(517): Show AGCTGTGAGGGGTGAGGGTGAAATCCCTCCTTAAGACGAGCCTCCTCTGA GGGGCTGTGAGGGGTGAGGGTGAAATCCCTCCTTAAGACGGGCCTCCGGC CGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGT GGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGACTAACACGGTGA AACCACGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGTTGGCGGG CACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAA CCCAGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAG CCTGGGCAACATAGTGAGACTCCGTCTCAAAAAAAAAGAAAAAAAAAAAA AAGACGGGCCTCCTCCGAGGGGCTGTGAGGGGTGAGGGTGAAATCCCTCC TTAAGACGGGCCTCCTCCGAGGGGCTGTGAGGGGTGAGGGTGAAATCCCT CCTTAAGATGGGCCTCCTCCGAGGG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0292 a0001c0001t0003g0292	1	300	0.0033	-524	c.138 others(18): Show c.1381+611_1381+1134del	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TUBGCP5_chr15_22994177_23044569	23040883	GTATCATA others(517): Show GTATCATAATCTGACCTGGCCAGAGATGCTGGGGGGACATCATAACCCCA CCTGGCCAGAGGTGTTGTGGGGCCATCATAACCCCAGCTGGCCGGAGGTG CTGGGGGGCGGGGGGAACTTCTTAACCCCACCTGGCCAGAGGTGCTGGGG GTGACTTCATAAATGTCACCTGGCCAGAGGTGCTGGGGGGGATTTCATAA CCCCACCTGGCCAGAGGTGCTGGGGGGACATCATAACCTCACCTGGCCAG AGGTGCTGGGGGGTATCATAATCCCACCTGGCCAGAGATGCTGGGGGGAC ATCATAACCCCACTTGGCCAGAGGTGCTGTGGGGCCATCATAACCCCAGC TGGCCGGAGGTGCTGGGGAGCGGGGGGAACTTCATAACCCCACCCGGCCA GAGGTGCTGGGGGTGACTTCATAAATGTCACCTGGCCAGAGGTGCTGGGG GGATTTCATAACCCAACCTGGCCAGAGGTGCTGGGGGGACATCTTAACCT CACCTGGCCAGAGGTGCTAGGGGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0273 a0001c0001t0003g0273	1	351	0.0029	-524	c.-18 others(11): Show c.-1864_-1341del	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		1315		chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23043011	CCACCTGG others(517): Show CCACCTGGCCAGAGGTGCTGGGGGGACATCATAACTTCACCTGGCCAGAG GTGCTGGGGGGTATCATAATCCCACCTGGCCAGAGATGCTGGGGGGACAT CATAACCCCACCTGCCAGAGGTGCTGGGGGGCGGGGGGAACTTCATAACC CCACCTGGCCAGAGGTGCTGGGGGTGACTTCATAAATGTCACCTGGCCAG AGGTGCTGGGGGGATTTCATAACCCAACCTGGCCAGAGGTGCTGGGGGGA CATCATAACCTCACCTGGCCAGAGGTGCTAGGGGGATATCATAATCCCAC CTGGCCAGAGATGCTGGGGGGACATCATAACCCCACCTGGCCGGAGGTGC TGGGGGGCGGGGGGAACTTCCTAACCCTACCTGGCCGGAGGTGCTGGGGG TGACTTCATAAATGTCACCAGGCCAGAGGTGCTGGGGGGGATTTCATAAC CACAGCTGGCCAGAGGTGCTGGGGGAGATTTCATAACCCCACCTGGCCAG AGGTGCTAGTGGGACTTCATAATCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	351	0.0029	-524	c.-39 others(11): Show c.-3992_-3469del	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		3443		chr15	TogoVar
ZNF516_chr18_76352682_76500242	76392708	AGGTGGAT others(517): Show AGGTGGATGGGAAGGCAGGTGACCAGGTGGGGGAAAGGTGGATGGGAAGG CAGGTGACCAGGTGGGGGAAAGGTGGATGGGAAGGCAGGTGGCCAGGTGG GGGAAAGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTG GGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGG GAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAG GTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGGAG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02572.hp2 HG02809.hp2 others(1): Show HG02559.hp1 HG02572.hp2 HG02809.hp2 HG03130.hp2	a0001 a0001	a0001c0004 a0001c0006 a0001c0014 a0001c0004 a0001c0006 a0001c0014	a0001c0004t0072 a0001c0006t0058 a0001c0006t0061 others(1): Show a0001c0004t0072 a0001c0006t0058 a0001c0006t0061 a0001c0014t0008	a0001c0004t0072g0113 a0001c0006t0058g0104 a0001c0006t0061g0112 others(1): Show a0001c0004t0072g0113 a0001c0006t0058g0104 a0001c0006t0061g0112 a0001c0014t0008g0278	4	346	0.0116	-524	c.181 others(21): Show c.1811-12929_1811-12406del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
BRSK2_chr11_1384934_1467689	1431720	CGGTCTGG others(516): Show CGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGG GGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGT CTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTG GTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGG TCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCA GGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGT TTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTT GCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCC ACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACT GTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTG CTCAGCAGTGAGCGTCTTCTGCGG	C C	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02280.hp1 HG02717.hp1 others(2): Show HG01346.hp2 HG02280.hp1 HG02717.hp1 HG02809.hp2 HG03195.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0005 others(1): Show a0001c0001 a0002c0002 a0002c0005 a0002c0008	a0001c0001t0001 a0002c0002t0019 a0002c0005t0034 others(1): Show a0001c0001t0001 a0002c0002t0019 a0002c0005t0034 a0002c0008t0002	a0001c0001t0001g0046 a0002c0002t0019g0021 a0002c0005t0034g0055 others(2): Show a0001c0001t0001g0046 a0002c0002t0019g0021 a0002c0005t0034g0055 a0002c0005t0034g0056 a0002c0008t0002g0326	5	360	0.0139	-523	c.92- others(15): Show c.92-4293_92-3771del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
DDX51_chr12_132131594_132149319	132135710	CCCCGAGT others(516): Show CCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCC GGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCC ACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCC CACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCT CCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGT GCCCACGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCG CTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCC GAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGG TGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCC ACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTG CCCCGGTGCCCGCTCCTCCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0006 a0002c0002t0003g0006	1	334	0.0030	-523	c.30 others(11): Show c.3039_*3561del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		883		chr12	TogoVar
ERICH1_chr8_659200_736224	675964	GCGCGGCG others(516): Show GCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCCCGGCGAGGA CAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTG AGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCT CGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGC CCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACG CGGCGGCCCCTCGGCGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAG AGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAG GACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTC GTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCC CCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCG GCGGCCCCTCGGCGAGGACAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03491.hp2 NA21309.hp2 HG02145.hp2 HG03491.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0002t0002g0339 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0002t0002g0339	3	378	0.0079	-523	c.305 others(17): Show c.305-2440_305-1918del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	675999	CCCCCCCG others(516): Show CCCCCCCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACG CGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGA GACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGG ACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCG GCGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGGCGCGGCGGC CCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGG CGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAG ACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGAC AGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGC GAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCC CTCGTGAGGACAGAGGCGCGGCGG	C C	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0265 a0001c0002t0002g0265	1	378	0.0027	-523	c.305 others(17): Show c.305-2475_305-1953del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
FBXL20_chr17_39247663_39406626	39323875	TCTGCCTC others(516): Show TCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGC CTGGCTATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCC AGGCTGGTCTCGAACTCCTGACCTCGTGATCCAACCCCCTCCCCCCCCCA CCCCCTGGCCTCCCAAAGTGCTGGGATTAAAGGCGTGAGCCACCGTGCCT GGCCTATACTTCTGTTTTCAAATGAAGGCATGTCCCAAGATTTAGTTCTT ATTCTTACACTTCACCGTGTACTAAAGAACGGCTCATGAATCAACTGCAT CAGTATACCTGGAGTGCTTATTAAAATGCAGATTCCTGGGTCCTAGCTCG GACCTACAGATTCCTCTAGGTGAGAGACCCAGGAATCTATCTTTTCTAAA CATTCTCTCCAGGTGATTTTTCTTTTTTTTTTAGACAAGAGTCTCACACT GTCACCTAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACCACAACCTCC ACCTCCCAGGTTCAAGCGATTCTC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02622.hp2 HG02630.hp2 others(10): Show HG02451.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG02886.hp1 HG02922.hp2 HG03130.hp1 HG03209.hp1 HG03225.hp2 HG03579.hp2 NA18522.hp1 NA18906.hp1 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0007 a0001c0001t0013 a0001c0001t0016 others(4): Show a0001c0001t0007 a0001c0001t0013 a0001c0001t0016 a0001c0001t0042 a0001c0001t0071 a0001c0001t0072 a0003c0003t0016	a0001c0001t0007g0013 a0001c0001t0007g0014 a0001c0001t0007g0015 others(10): Show a0001c0001t0007g0013 a0001c0001t0007g0014 a0001c0001t0007g0015 a0001c0001t0007g0016 a0001c0001t0013g0010 a0001c0001t0013g0011 a0001c0001t0013g0012 a0001c0001t0016g0004 a0001c0001t0016g0005 a0001c0001t0042g0009 a0001c0001t0071g0006 a0001c0001t0072g0003 a0003c0003t0016g0007	13	230	0.0565	-523	c.104 others(19): Show c.104+18782_104+19304del	FBXL20	ENSG00000108306.13	transcript	ENST00000264658.11	protein_coding	2/14			chr17	TogoVar
LUC7L_chr16_183990_234449	186645	GGGGAACA others(516): Show GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	350	0.0029	-523	c.20 others(11): Show c.2030_*2552del	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2344		chr16	TogoVar
NOC4L_chr12_132139457_132157468	132149492	CCACACCC others(516): Show CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGA GTGCGGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCGG CCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCT CGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCA CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCGCT	C C	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0082 a0002c0002t0001g0082	1	294	0.0034	-523	c.901 others(15): Show c.901+634_902-930del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149536	CCACACCC others(516): Show CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCT CGGTGAGTGCGGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGA GTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCG CCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCT CGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCC TACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCGCTCACAC	C C	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	294	0.0034	-523	c.901 others(15): Show c.901+678_902-886del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOS1AP_chr1_162064691_162375475	162260958	CCTCAAAG others(516): Show CCTCAAAGTTTCAAGCAATAATTATTTCATTAGAATTTGTTATATTCCCA AGGTGACTAATATAACAAATTAGAATTTGTTATATTCCCAAGATGACTAA TATAACAAATTAGAATTTGTTATACTCCCAAAGTGCCTTGAAAGTTAATA TTTATTTGGAGATATATATGTTCAGGTATACTTGGCAGAAACAACCAGTA AATCTCATTGGTCTGGCATCAGAGAATGAGGTTCTCCATATAAGTAAAAT TTCCAGGGAACTCAAGCTTTCCCCTCTAAGCATCAGTCCTATCTTTCAAA ATCAATAACATTTAATTACAATATTTTATAACCTTTCATGTCCCCTTGTT CTTAAACAATATCCTGATGTTACCTTCTATGGCAGCAGGGAGTTTGCAGA TTCTTAATGTGCAAACTTTTAAGAATCTTGAGATGGGAGATTACCCTGCA TTATCCAGGTGGGCTCAATCTAATCACAAGAGTCCTTATAGAAGAGAGGC AGCGGGGAGTCAGAGAGAGAGAGA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02071.hp2 NA18942.hp1 HG00558.hp2 HG02071.hp2 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0002t0001g0018 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0002t0001g0018	3	182	0.0165	-523	c.178 others(19): Show c.178-26385_178-25863del	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9			chr1	TogoVar
SARDH_chr9_133658560_133743352	133668431	CTCCCTCT others(516): Show CTCCCTCTCCCTTACCCTCCCTCTCCCTCGCCCTCCCTCTCCCCTCGCCC TCCCTCTCCCCTCACCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCT CACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCTC ACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCCCTCCCTCT CCCTCACCTTCCCTCTCCCCTACCCTCCCTCTCCCTCACCCTCCCTCTCC CCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCC CTTACCCTCCCCCTCCCTCTCCCTCACCTTCCCTCTCCCCTACCCTCCCT CTCCCTCACCCTCCCTCTCCCTCACCCTCCATCTCCCCTCACCCTCCCTC TCCCCTCACCCTCCCTCTCCCTCACCCTCCATCTCCCCTCACCCTCCCTC TCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCTCTCTCCTTCCCTCTC CCTTACCCTCCCTCTCCCTCACCT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18747.hp2 NA18983.hp2 others(2): Show HG00438.hp2 NA18747.hp2 NA18983.hp2 NA19000.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0006t0002 a0001c0001t0001 a0001c0001t0002 a0001c0006t0002	a0001c0001t0001g0182 a0001c0001t0002g0066 a0001c0006t0002g0213 others(2): Show a0001c0001t0001g0182 a0001c0001t0002g0066 a0001c0006t0002g0213 a0001c0006t0002g0216 a0001c0006t0002g0217	5	262	0.0191	-523	c.249 others(19): Show c.2495+1630_2496-1562del	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
TCN1_chr11_59847808_59871487	59853923	ATGATAAA others(516): Show ATGATAAATAACTGTCAACTAGAGTTAAGGAGCCAAATAAGTCATACTTT TCAGAGGCAAAGCCATTATTTTAATTTTAATACTTGACCTCCTTGACCAG TTACTTTAGTTTGGGGATCTATGAGTTTTCTGAAAGCGAGGGCAGGGAGA AGCTTCAGGGTATCTGTGAAACCCTCAGTTGAAATGCTAAATTTGGCAGT GGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCT CTTGAGCCCAGGAATTCAAGACCAGCCTGTGCAACATAGTAAGATGCTGT CTGTAAAATAAATAAATAAACAAATGCCAATTTTTGTGTGTATGTTCATT TTTTTCCTGGATGAACATTCATTACATTCACTTGATTTTCAAAGGGGTCC GTGATTCAAAAAGAGTTAAGAACCACTGTTCTAGATCTCAAATGTTTGAC TTTAGAAGTTACATTTATTGCAAGAATTTTACTGAAATAAGAGAGAGCCC TGAGATTCATTAATTTATTTAGCG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02572.hp1 HG02615.hp2 others(7): Show HG01884.hp1 HG02572.hp1 HG02615.hp2 HG02809.hp2 HG03041.hp2 HG03540.hp1 NA18522.hp1 NA19030.hp2 NA19043.hp2 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0006 a0001c0001 a0001c0002 a0004c0006	a0001c0001t0001 a0001c0002t0001 a0004c0006t0001 a0001c0001t0001 a0001c0002t0001 a0004c0006t0001	a0001c0001t0001g0032 a0001c0002t0001g0019 a0001c0002t0001g0034 others(4): Show a0001c0001t0001g0032 a0001c0002t0001g0019 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0048 a0001c0002t0001g0057 a0004c0006t0001g0097	10	336	0.0298	-523	c.112 others(17): Show c.1121+206_1122-603del	TCN1	ENSG00000134827.8	transcript	ENST00000257264.4	protein_coding	7/8			chr11	TogoVar
TEX37_chr2_88519649_88534585	88522448	TGGTACAA others(516): Show TGGTACAAAAGTGGGAGGGCAAGCGAGTACACGCAAAAGTGGCGAAACAT GAGGGGCGGCCTCACTTTACAACAACTGGCTCTTGGGTTAACTAATCCAG TCCTGAGAGAGTGATAACTCACTCACTATGGTGAGAATTAGCGCAGTCCC AAGAGAGTGGCATTAATCCCTCTTAACCACCTCATCAAATCTTAAAGGCC TCACCTCCCAACACTGCCATGCTGGGGACCAAATTTCTAACACATTAATT CTGTGGACACACTCAAAGAAAGGCAGGAAATAATTATCTGAGGGGAAGTT GGCATTCCATTAAAGAAGAGGAATGCCAGAGATTCCCAGCCAACTCAATC TCTTGACCTTGCCCATCATTCACTCCTTTCTAGGCACATGGCTGGTGATT CTTGTTCTCAGTGGTTCCTGCCTTTAGGCTTTGCACTAGCTGATTGCTGT GTCTAGAACCCCTTATTCTCAGATCTTTGCATGGCTGGTTCTTTCCCATG CTTCAGATCTCTACTATAACATCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00438.hp2 others(70): Show HG00099.hp1 HG00140.hp1 HG00438.hp2 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00738.hp1 HG01069.hp2 HG01074.hp2 HG01175.hp2 HG01257.hp2 HG01258.hp2 HG01884.hp1 HG01934.hp1 HG02074.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02735.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG03041.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03486.hp2 HG03491.hp2 HG03654.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG04184.hp2 HG04199.hp1 NA18522.hp2 NA18940.hp2 NA18942.hp2 NA18943.hp1 NA18956.hp2 NA18961.hp1 NA18965.hp1 NA18967.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18986.hp1 NA18988.hp1 NA18989.hp2 NA18994.hp2 NA18998.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19057.hp1 NA19060.hp2 NA19072.hp1 NA19074.hp1 NA19075.hp2 NA19076.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp2 NA19084.hp1 NA19090.hp1 NA19091.hp1 NA20300.hp2 NA20805.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0006 a0002c0002 others(1): Show a0001c0001 a0001c0006 a0002c0002 a0006c0007	a0001c0001t0001 a0001c0006t0001 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0006t0001 a0002c0002t0001 a0006c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0022 others(8): Show a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0006t0001g0017 a0001c0006t0001g0048 a0002c0002t0001g0002 a0006c0007t0001g0055	73	402	0.1816	-523	c.-23 others(11): Show c.-2344_-1822del	TEX37	ENSG00000172073.4	transcript	ENST00000303254.4	protein_coding		2200		chr2	TogoVar
TTLL8_chr22_50013575_50063298	50028645	CCCCATCA others(516): Show CCCCATCACACCATCCTAAAGACCCCCACACACACTCGTAAAGACCCCAT CACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCG TCCTAAAGACCCCCACATACCCTCGTAAAGACCCCATCACACCGTCCTGA AGACCCCACACACCCTCGTAAAGACCCCCATCACGCTGTCCTAAAGACCC CCACATACCCTCGTAAAGACCCCCATCACACCATCCTAAAGACCCCACAT ACCCTCGTAAAGACCCCCATCACACCGTCCTGAAGACCCCCACACACCCT CGTAAAGACCCCATCACACCGTCCTGAAGACCCCCACACACACTCGTAAA GACCCCATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCA TCACACCGTCCTGAAGACCCCACACACACTCGTAAAGACCCCATCACACC ATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGA AGACCCCACACACCCTCGTAAAGA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01175.hp1 NA18944.hp2 HG00438.hp1 HG01175.hp1 NA18944.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0001 a0004c0004t0001 a0002c0002t0001 a0004c0004t0001	a0002c0002t0001g0146 a0004c0004t0001g0086 a0004c0004t0001g0178 a0002c0002t0001g0146 a0004c0004t0001g0086 a0004c0004t0001g0178	3	224	0.0134	-523	c.225 others(19): Show c.2251+1262_2251+1784del	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
ATP9B_chr18_79064394_79383283	79145040	GCGGTGTG others(515): Show GCGGTGTGCAGAGTGACTGAAGGTGCAAGCTGCATGTCGGAGCTGGCGGT GTGGAGAGTGACTGAAGGTGCAAGCTGCATGTCGGGGGAGCCGGCGGTGT GCAGAGTGACTGAAGGTGCAGGCTGCATGTCGGAGCTGGCGGTGTGCAGA GTGACTGAAGGTGCAAGCTGCATGTCGGGGGAGCTGGCAGTGTGGAGAGT GACTGAAGGTGCAAGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGA CTGAAGGTCCAGGCTGCATGTCGGGGTTGCTGGCGGTGTGCAGAGTGACT GAAGGTGCAGGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGA AGGTGCAAGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAG GTGCAGGCTGCATGTCGGGGCTGCTGGCGGTGTGCAGAGTGACTGAAGGT GCAGGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAGGTGC AAGCTGCATGTCAGGGGAGCTGC	G G	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0267 a0001c0006t0003g0267	1	298	0.0034	-522	c.726 others(17): Show c.726+1188_726+1709del	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	6/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDC42EP5_chr19_54460026_54478296	54472341	CTCATGAG others(515): Show CTCATGAGTCCAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAG ACCCCCAGCCCCTCCTCCCTCAGACCCAGGAATCCAGGCCCCATCCCCTC CTCCCTCAGACCCAGGAGTCAAGACCCCCCAGCCCCTCCTCCCTCAGACC CAGGAGTCCAGACCTCCAGCCCTTCCTCCTCCCTCAGACCCAGGAGTCAA GATCCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCC CCTCCTCCCTCAGACCCAGGAGTCCAGACCCCCAGCCCCTCCTCCCTCAG ACCCAGGAGTCCAGGCCCCCATCCCCTCCTCCCTCAGACCCAGGAGTCCA GGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAATCCAGGCCCCATCCCCT CCTCCCTCAGACCCAGGAGTCCAGACCCCCAGCCCCTCTTCCCTCAGACT CAGGGGTCCAGACCCCCAGCCCCTTCTTCCTCAGACCCAGGAGTCAAGAC CCCCCAGCCCCTCCTCCCTCAGA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01070.hp2 HG01123.hp2 others(10): Show HG00741.hp2 HG01070.hp2 HG01123.hp2 HG01257.hp1 HG01258.hp2 HG01943.hp2 HG01952.hp2 HG02698.hp1 HG03453.hp2 HG03688.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0034 a0001c0001t0002g0035 others(5): Show a0001c0001t0002g0011 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076	13	421	0.0309	-522	c.-14 others(17): Show c.-142+201_-141-657del	CDC42EP5	ENSG00000167617.3	transcript	ENST00000301200.3	protein_coding	1/2			chr19	TogoVar
DDX51_chr12_132131594_132149319	132135512	ACGGTGCC others(515): Show ACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTC CCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCGAGTGT GCCCACGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCG CTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCC CCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGG TGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCAC CTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCA CGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCC CACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGC CCACGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCT CCTCCCACCTCCCGAGTGTGCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG02280.hp2 HG01175.hp1 HG02280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0004 a0002c0002t0004g0004	2	334	0.0060	-522	c.32 others(11): Show c.3238_*3759del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1081		chr12	TogoVar
DLGAP2_chr8_732628_1713476	1402244	GTTCTCCT others(515): Show GTTCTCCTGAGTCGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCATCC TCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCA GAGTCGTGTATTGCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCT CCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTT GTCCTCCAGAGTCGTGTATTGAGAGCTTACTGAGCGCTCCCTCCTTGTCC TCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTTGTCCTCCG GAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGT CGTGTATTGAGAACTTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTG TATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTGTATT GAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCAGAGTCGTGTATTGAGT GCTTACTGAGCGCCACCTCCTCA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02922.hp2 HG02976.hp1 others(1): Show HG02647.hp1 HG02922.hp2 HG02976.hp1 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0017 a0002c0001t0002 a0002c0001t0005 others(1): Show a0001c0003t0017 a0002c0001t0002 a0002c0001t0005 a0002c0001t0019	a0001c0003t0017g0004 a0002c0001t0002g0032 a0002c0001t0005g0035 others(1): Show a0001c0003t0017g0004 a0002c0001t0002g0032 a0002c0001t0005g0035 a0002c0001t0019g0030	4	40	0.1000	-522	c.107 others(19): Show c.107-99120_107-98599del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERICH1_chr8_659200_736224	675101	AGTGAGGA others(515): Show AGTGAGGACAGAGACGTGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGG CCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCG GCGCCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAG ACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGA CAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGC GAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCC TCGGCGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGC GGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGAC GCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACA GAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGGCGA GGACAGAGACGCGGCGGCCCCTC	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	378	0.0027	-522	c.305 others(17): Show c.305-1576_305-1055del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	675196	ACGCGGCG others(515): Show ACGCGGCGCCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGA CAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGGC GAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCC TCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCG CCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGAC GCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACA GAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGGCGA GGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTC GGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCC CCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCG GCGGCCCCTCGTGAGGACAGAGG	A A	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	378	0.0027	-522	c.305 others(17): Show c.305-1671_305-1150del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
EXOC2_chr6_480154_698139	601450	CCACACAC others(515): Show CCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACAT TCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCA AGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCC GTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAAT CCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACAT TCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCA AGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCC GTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAAT CCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACAT TCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCA AGAACACCCCGTGTGCGAATCCA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(102): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp2 HG00438.hp1 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01952.hp2 HG01975.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02622.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG03017.hp1 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG06807.hp2 NA18522.hp1 NA18942.hp1 NA18948.hp2 NA18954.hp1 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18968.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18979.hp2 NA18980.hp2 NA18983.hp2 NA18988.hp1 NA18992.hp1 NA18998.hp2 NA18999.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp2 NA19007.hp1 NA19010.hp1 NA19030.hp1 NA19057.hp1 NA19057.hp2 NA19074.hp2 NA19075.hp2 NA19085.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0007 others(5): Show a0001c0001 a0001c0002 a0001c0007 a0001c0013 a0001c0015 a0004c0009 a0005c0016 a0006c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0014 a0001c0001t0018 a0001c0001t0023 a0001c0001t0024 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0010 a0001c0002t0012 a0001c0002t0020 a0001c0002t0021 a0001c0007t0002 a0001c0013t0001 a0001c0015t0003 a0004c0009t0002 a0004c0009t0009 a0005c0016t0001 a0006c0023t0002	a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0016 others(102): Show a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0085 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0002g0004 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0025 a0001c0001t0002g0032 a0001c0001t0002g0052 a0001c0001t0002g0168 a0001c0001t0002g0174 a0001c0001t0002g0190 a0001c0001t0002g0233 a0001c0001t0002g0238 a0001c0001t0002g0260 a0001c0001t0003g0005 a0001c0001t0003g0028 a0001c0001t0003g0050 a0001c0001t0003g0059 a0001c0001t0003g0117 a0001c0001t0003g0122 a0001c0001t0003g0124 a0001c0001t0003g0137 a0001c0001t0003g0179 a0001c0001t0004g0002 a0001c0001t0004g0011 a0001c0001t0004g0042 a0001c0001t0004g0081 a0001c0001t0005g0027 a0001c0001t0005g0075 a0001c0001t0005g0128 a0001c0001t0006g0129 a0001c0001t0007g0001 a0001c0001t0011g0268 a0001c0001t0014g0167 a0001c0001t0018g0083 a0001c0001t0023g0119 a0001c0001t0024g0160 a0001c0002t0001g0008 a0001c0002t0001g0030 a0001c0002t0001g0054 a0001c0002t0001g0056 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0069 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0139 a0001c0002t0002g0031 a0001c0002t0002g0047 a0001c0002t0002g0057 a0001c0002t0002g0118 a0001c0002t0004g0009 a0001c0002t0004g0018 a0001c0002t0004g0070 a0001c0002t0005g0023 a0001c0002t0006g0132 a0001c0002t0008g0175 a0001c0002t0010g0035 a0001c0002t0012g0039 a0001c0002t0012g0044 a0001c0002t0020g0036 a0001c0002t0021g0037 a0001c0007t0002g0123 a0001c0013t0001g0127 a0001c0015t0003g0041 a0004c0009t0002g0194 a0004c0009t0009g0148 a0005c0016t0001g0172 a0006c0023t0002g0051	105	272	0.3860	-522	c.743 others(17): Show c.743-2747_743-2226del	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	7/27			chr6	TogoVar
FAT1_chr4_186582794_186728856	186626717	AGAATGAA others(515): Show AGAATGAATGAATGAATGAATGAGGGACCAACATGGCACCTGACACATAA AGTGAGCTTCACCAGCCCACAGAATGAATGAATGAATGAATGAATGAGGG ACCAACATGGCACCTGGCACATAAAGTGAGCTTCACCAGCCCACAGAATG AATGAATGAATGAATGAATGAGGGACCAACATGGCACCTGGCACATAAAG TGAGCTTCACCAGCCCACAGAATGAATGAATGAATGAATGAATGAGGGAC CAACATGGCACCTGGCACATAAAGCGAGCTTCATCAGCCCACAGAATGAA TGAATGAATGAATGAATGAGGGACCAACATGGCACCTGACACATAAAGTG AGCTTCACCAGCCCACAGAATGAATGAATGAATGAATGAATGAATGAGGG ACCAACATGGCACCTGGCACATAAAGTGAGCTTCACCAGCCCACAGAATG AATGAATGAATGAATGAATGAGGGACCAACATGGCACCTGGCACATAAAG TGAGCTTCACCAGCCCACAGAAT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG03486.hp2 HG00733.hp1 HG03486.hp2	a0005 a0027 a0005 a0027	a0005c0026 a0027c0047 a0005c0026 a0027c0047	a0005c0026t0006 a0027c0047t0003 a0005c0026t0006 a0027c0047t0003	a0005c0026t0006g0067 a0027c0047t0003g0020 a0005c0026t0006g0067 a0027c0047t0003g0020	2	338	0.0059	-522	c.481 others(18): Show c.4810+915_4810+1436del	FAT1	ENSG00000083857.15	transcript	ENST00000441802.7	protein_coding	9/26			chr4	TogoVar
POLE_chr12_132618762_132692342	132684103	CTGACTGG others(515): Show CTGACTGGTTACTGTATCACACCGTCCCAGTACTCCACACAGGCTCTCAT TCACAGAGAGCTACCATTGACTGGTTACTGTATCACACCGTCCCAGTACT CCACACAGGCTCTCATTCACAGAGAGCTACCATTGACTGGTTACTGTATC ACACCGTCCCAGTACTCCACACAGGCTCTCATTCACAGAGCTACCATTGA CTGGTTACTATATCACACCGTCCCAGTACTCCACACAGGCTCTCATTCAC AGAGAGCTACCATTGACTGGTTACTGTATCACACCGTCCCAGTACTCCAC ACAGGCTCTCATTCACAGAGCTACCATTGACTGGTTACTATATCACACCG TCCCAGTACTCCACACAGGCTCTCATTCACAGAGCTACCATTGACTGGTT ACTATATCACACCGTCCCAGTACTCCACACAGGCTCTCATTCACAGAGAG CTACCATTGACTGGTTACTGTATCACACCGTCCCAGTACTCCACACAGGC TCTCATTCACAGAGAGCTACCAT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG02630.hp1 others(6): Show HG01109.hp1 HG01243.hp1 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02896.hp1 HG03195.hp1 HG03225.hp1 HG03453.hp1	a0001 a0006 a0008 a0001 a0006 a0008	a0001c0026 a0001c0035 a0006c0009 others(1): Show a0001c0026 a0001c0035 a0006c0009 a0008c0011	a0001c0026t0002 a0001c0035t0011 a0006c0009t0002 others(1): Show a0001c0026t0002 a0001c0035t0011 a0006c0009t0002 a0008c0011t0002	a0001c0026t0002g0025 a0001c0035t0011g0168 a0006c0009t0002g0017 others(6): Show a0001c0026t0002g0025 a0001c0035t0011g0168 a0006c0009t0002g0017 a0006c0009t0002g0018 a0006c0009t0002g0019 a0006c0009t0002g0020 a0008c0011t0002g0156 a0008c0011t0002g0159 a0008c0011t0002g0160	9	292	0.0308	-522	c.62+ others(15): Show c.62+2629_63-2825del	POLE	ENSG00000177084.19	transcript	ENST00000320574.10	protein_coding	1/48			chr12	TogoVar
PXMP2_chr12_132682587_132709985	132684103	CTGACTGG others(515): Show CTGACTGGTTACTGTATCACACCGTCCCAGTACTCCACACAGGCTCTCAT TCACAGAGAGCTACCATTGACTGGTTACTGTATCACACCGTCCCAGTACT CCACACAGGCTCTCATTCACAGAGAGCTACCATTGACTGGTTACTGTATC ACACCGTCCCAGTACTCCACACAGGCTCTCATTCACAGAGCTACCATTGA CTGGTTACTATATCACACCGTCCCAGTACTCCACACAGGCTCTCATTCAC AGAGAGCTACCATTGACTGGTTACTGTATCACACCGTCCCAGTACTCCAC ACAGGCTCTCATTCACAGAGCTACCATTGACTGGTTACTATATCACACCG TCCCAGTACTCCACACAGGCTCTCATTCACAGAGCTACCATTGACTGGTT ACTATATCACACCGTCCCAGTACTCCACACAGGCTCTCATTCACAGAGAG CTACCATTGACTGGTTACTGTATCACACCGTCCCAGTACTCCACACAGGC TCTCATTCACAGAGAGCTACCAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG02630.hp1 others(7): Show HG01109.hp1 HG01243.hp1 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02896.hp1 HG02897.hp1 HG03195.hp1 HG03225.hp2 HG03453.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0004 a0001c0004t0005 a0001c0004t0002 a0001c0004t0004 a0001c0004t0005	a0001c0004t0002g0080 a0001c0004t0004g0027 a0001c0004t0004g0028 others(3): Show a0001c0004t0002g0080 a0001c0004t0004g0027 a0001c0004t0004g0028 a0001c0004t0004g0078 a0001c0004t0004g0079 a0001c0004t0005g0010	10	350	0.0286	-522	c.-35 others(11): Show c.-3567_-3046del	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding		3483		chr12	TogoVar
RPTOR_chr17_80539838_80971368	80743849	TAGCAGAG others(515): Show TAGCAGAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGG TTACGAGCACAGCCCTGGTTACTAGCAGAGCCCTGGTTACTAGCACAGCC CTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTATGAGCAC AGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTA GCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGTT ACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTATCCT GGTTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGCACAG CCCTGGTTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGC ACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGCTAC TAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGG CTACTAGCACTGTCCTGGTTACG	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02922.hp1 HG03516.hp1 HG02723.hp2 HG02922.hp1 HG03516.hp1	a0001 a0001	a0001c0005 a0001c0007 a0001c0009 a0001c0005 a0001c0007 a0001c0009	a0001c0005t0083 a0001c0007t0084 a0001c0009t0006 a0001c0005t0083 a0001c0007t0084 a0001c0009t0006	a0001c0005t0083g0017 a0001c0007t0084g0007 a0001c0009t0006g0142 a0001c0005t0083g0017 a0001c0007t0084g0007 a0001c0009t0006g0142	3	196	0.0153	-522	c.655 others(18): Show c.655-10156_655-9635del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHC2_chr19_411589_466033	432464	CAGATAGA others(515): Show CAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGG AGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGA GATAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGT GAGTGAGAGATAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGT GAGATCGTGAGTGAGAGATAGAGGAGGCCGGGCAGATAGATGGCGCTTCA TCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGCCGGGCAGATAGATG GCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGCCGGGCA GATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAG GCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGT TAGAGGAGGCCGGGCAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGA GAGATAGAGGAGGCCGGGCAGAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp2 others(18): Show HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00735.hp2 HG01099.hp2 HG01109.hp1 HG01256.hp2 HG01258.hp1 HG01891.hp1 HG02145.hp2 HG02451.hp1 HG02735.hp1 HG02970.hp2 HG03017.hp2 HG03239.hp2 HG03491.hp2 HG03927.hp2 HG04199.hp2 NA18747.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0004 a0001c0001 a0001c0005 a0002c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0005t0001 a0001c0005t0005 a0002c0004t0001 a0002c0004t0004 a0002c0004t0005	a0001c0001t0001g0098 a0001c0001t0004g0035 a0001c0001t0004g0064 others(18): Show a0001c0001t0001g0098 a0001c0001t0004g0035 a0001c0001t0004g0064 a0001c0001t0004g0065 a0001c0001t0005g0028 a0001c0001t0005g0029 a0001c0001t0005g0031 a0001c0001t0005g0047 a0001c0005t0001g0011 a0001c0005t0001g0012 a0001c0005t0001g0013 a0001c0005t0001g0015 a0001c0005t0001g0016 a0001c0005t0001g0017 a0001c0005t0001g0022 a0001c0005t0005g0026 a0002c0004t0001g0196 a0002c0004t0004g0200 a0002c0004t0005g0189 a0002c0004t0005g0190 a0002c0004t0005g0201	21	212	0.0991	-522	c.111 others(19): Show c.1110+1723_1111-1718del	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SLC12A7_chr5_1045384_1117063	1060940	CGCCTCAC others(515): Show CGCCTCACCCGGAACATCCACAGTGTGGGACTGCTGCGTCTCACCCACTG CACCTGCCGTGCAGGATCCCTGAGTCTCACCCGCCGCACCCGCCGTGCGG GATCCCTGAGTCTCACCCGCCGCACCCGCCGCACCTGCCGCATCCGCCAT GCGGAACCCCTGCGTCTCACCCACCGCACCCGCCGTGCGGGACCCCTGCG TCTCACCCGCCGCACCCGCCGTGCGGGACCCCTGCGTCTCACCCACCGCA CCCGCCGTGCGGGATCCCTGCGTCTCACCCACCGCACCCGCCGTACCTGC CGCATCCGCCATGCGGAACCCCTGCGTCTCACCCACCGCACCTGCCGTGC AGGATCCCTGAGTCTCACCCGCCGCACCCGCCGTGCGGGATCCCTGAGTC TCACCCGCCGCACCCGCCGTGCGGGATCCCTGAGTCTCACCCGCCGCACC CGCCGTACCTGCCGCATCCGCCATGCGGGACCCCTGCGTCTCACCCACCG CACCCGCCGTGCGGGATCCCTGA	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0015 a0002c0015t0015	a0002c0015t0015g0085 a0002c0015t0015g0085	1	118	0.0085	-522	c.274 others(18): Show c.2740-1011_2740-490del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	20/23			chr5	TogoVar
TUBGCP2_chr10_133273635_133313872	133291853	TGTGTCCC others(515): Show TGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCC GTGTCCCCCATGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCTCCGT GTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCACGCAC CCTCCGTGTCCCCCATGTCCCTCTGTGTCCCTCCGTGTCCCTCCGTGTCC CCCATGTCCCTCCGTGTCCCCCGTGTCCCTCCGTGTCCCTCCGTGTCCCT CCGTGTCCCCCATGTCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTG TACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCGTGTCCCTCCGTGT CCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAG CATGCACACTCCGTGTCCCCCGTGTCCCTCCGTGTCCCCCATGTCCCCGT GTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCGTG TCCCCCGTGTCCCTCCGTGTCCC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0248 a0002c0003t0001g0248	1	284	0.0035	-522	c.121 others(17): Show c.1214+124_1214+645del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
TUBGCP5_chr15_22994177_23044569	23042845	CAGGGGGA others(515): Show CAGGGGGAATTTCATAACCCTACCCGGACAGAGGTGCTAGGGGTGACTTC ATAAATGTCACCTGGCCAGAGGTGCTGGAGGGGATTTCATAACCCCACCT GGCCAGAGGTGCTGGGGGGGACTTCATAACCCCACCTGGCCAGAGGTCCT GGGGGACTTCATAACCCCACCTGGCCAGAGGTGCTGGGGGGACATCATAA CTTCACCTGGCCAGAGGTGCTGGGGGGTATCATAATCCCACCTGGCCAGA GATGCTGGGGGGACATCATAACCCCACCTGCCAGAGGTGCTGGGGGGCGG GGGGAACTTCATAACCCCACCTGGCCAGAGGTGCTGGGGGTGACTTCATA AATGTCACCTGGCCAGAGGTGCTGGGGGGATTTCATAACCCAACCTGGCC AGAGGTGCTGGGGGGACATCATAACCTCACCTGGCCAGAGGTGCTAGGGG GATATCATAATCCCACCTGGCCAGAGATGCTGGGGGGACATCATAACCCC ACCTGGCCGGAGGTGCTGGGGGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG02615.hp2 HG02647.hp2 HG01099.hp1 HG02615.hp2 HG02647.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0133 a0001c0003t0001g0134 a0001c0003t0001g0135 a0001c0003t0001g0133 a0001c0003t0001g0134 a0001c0003t0001g0135	3	351	0.0086	-522	c.-38 others(11): Show c.-3824_-3303del	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		3277		chr15	TogoVar
AKT1S1_chr19_49864039_49882355	49865743	AGCTGGGA others(514): Show AGCTGGGATTACAGGCACCCGCCACCATGCCCCGCTAATTTTTGTATTTT TAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCACAAACTCCTG ATCTCGGGTGATCCGCCCGCCTAGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCTGGCCGCCTTGTCCAATTTCTAAGGTCTTGGACAG GTACCCACCCCACTGAAACAGGCAACACTTCTTTCTTTACTGGACACATC CCCTTCTCTCCCAGCCATATTTTTTCTTTTCTTTTTTTGAGACAGGTTCT CGCTCTGTCACCCAGGCTGAAGTACAGTGTGGTGATCACTGCTCACTACA CCCTTGACCTACTGGGCTCAAGGGATCCTCCCGCTTCAGCCTCCCGATTA GGAACTACAAGGACGCGCCACCATTCCCGCTAATTTTTTAGAGAGACAGG TTTCACCATGTCGCTCAGGCTGGTCTCGAACTCCTGGGTTCAAGCGATCC GCCCGCCTCGGCCTCCCAAAGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02258.hp2 HG02630.hp2 others(3): Show HG01884.hp2 HG02258.hp2 HG02630.hp2 HG03516.hp2 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0001t0006 a0001c0009t0006 a0001c0001t0001 a0001c0001t0006 a0001c0009t0006	a0001c0001t0001g0037 a0001c0001t0006g0016 a0001c0001t0006g0040 others(1): Show a0001c0001t0001g0037 a0001c0001t0006g0016 a0001c0001t0006g0040 a0001c0009t0006g0039	6	420	0.0143	-521	c.36 others(11): Show c.3653_*4173del	AKT1S1	ENSG00000204673.11	transcript	ENST00000344175.10	protein_coding		3295		chr19	TogoVar
ANKRD30B_chr18_14743172_14859667	14859146	GAAGAGGC others(514): Show GAAGAGGCGCTCCTCACCTCCCAGATGGGGCGGGCTGGCAGAGGCGCTCC TCACCTCCCAGATGATGGGCAGCTGGGCAAAGGCGCTCCTCACCTCCCAG ACTGGGCGGCCAGGCAGAGGCGCTCCTCGCCTCCCACATGGGGTGGCTGG GCAGAGGCGCTCCTCACCTCCTAGATGGGGTGGCCGGGCAGCGGCGCTCC TCACCTCCCAGACGGGGAGACCAGGAAGAGGTGCTCCTCACTTCCCAGAT GGGGCAGCCAGGCAGAGGCGCTCCTCACTTCCCAGATGGTGTGTCATCCG TGAAGAGGCGCTTCTCACCTCCCAGATGATTGGCAGCCAGAGAAAGGTGC TCCTCACTTCCCAGATGGGGCGGCCGAGAAATGCCACTCCCCATTCCCAG ATGGGGTGGAGGTCAGGCAGAGGCGCTCCTCACCTCCCAGATGGGGCAGC CGGGCAGAGGCGCTCCTCACCTCCCAGATGGGGAGGCTGGGCAGAGGCGC TCTTCACTTCCCAGAGGGGGTG	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0276 a0001c0001t0002g0276	1	316	0.0032	-521	c.49 others(11): Show c.4989_*5509del	ANKRD30B	ENSG00000180777.15	transcript	ENST00000690538.1	protein_coding		4480		chr18	TogoVar
DVL1_chr1_1330278_1354418	1350774	CGGGGGGA others(514): Show CGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGT GAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGG CCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGG GCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGA CGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGT GAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGG CCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGG GCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCTGGAGCGA CGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGT GAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGG CCTGGACCGGGCAGGAGCGACG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0142 a0001c0016t0001g0142	1	344	0.0029	-521	c.-22 others(11): Show c.-2230_-1710del	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		1357		chr1	TogoVar
ERICH1_chr8_659200_736224	675240	CGAGGACA others(514): Show CGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCC CTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGC GCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGAC GCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGAC AGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGGCG AGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCT CGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGG CCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGC GGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGA GACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGA CAGAGACGCGGCGGCCCCTCGT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02027.hp2 HG02056.hp1 others(24): Show HG00609.hp1 HG02027.hp2 HG02056.hp1 HG02080.hp2 HG02129.hp2 HG02132.hp2 HG02738.hp2 HG03942.hp2 NA18944.hp2 NA18945.hp1 NA18951.hp2 NA18969.hp2 NA18982.hp2 NA18983.hp2 NA18989.hp2 NA18992.hp2 NA18994.hp2 NA19002.hp2 NA19009.hp2 NA19011.hp2 NA19012.hp2 NA19060.hp2 NA19070.hp2 NA19080.hp1 NA19081.hp1 NA19087.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0017 others(23): Show a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0193 a0001c0001t0003g0108	27	378	0.0714	-521	c.305 others(17): Show c.305-1714_305-1194del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
MORC3_chr21_36315197_36381632	36327322	AATTTTTT others(514): Show AATTTTTTTGGCTTTTGGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCT CGTCTCCTAACCTCAAGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGG GATTACAGGAGTGAACCACCGTGCTTGGCCTTTATTTCCTATTCTGGAAT TGGGCAACACTTCTTCCATAAAATACAGTAAGTGTTCTAGTGAACTGAAC AGAGGAGGCTGGCTTTGTAGACAGAAAAAGGCCGAAAGAAAGCAGAAACA AAGAACAAAAAGCAGATACGTCATTTCAAAGTTAAAAACAATAGATAAAT AACTGACTGACATTAGGTTACTTTTTGTTGTAAAACAACAAAATGGAGGG AACTTATTATCTGTCATACCAGTTGATGACTGAAACTGACCTGTTCGGTA AATTGGCTGTTATCTCCCTTGATTTCGCTGAAGGTCAGATAACAACTTAG TTTCAGTTTGGTGACTGAAATTTTAGCATGGGTGACTCCATTTTGATTTT TAGTCTGTTTTTGGAGGCCTAG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02257.hp2 HG02258.hp1 others(4): Show HG01106.hp2 HG02257.hp2 HG02258.hp1 HG02486.hp1 HG02572.hp1 HG02809.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0290 a0001c0001t0001g0291 others(3): Show a0001c0001t0001g0004 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0301 a0001c0001t0001g0302	7	308	0.0227	-521	c.40- others(15): Show c.40-6322_40-5802del	MORC3	ENSG00000159256.13	transcript	ENST00000400485.6	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr21	TogoVar

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Search Results (Total: 10000 hits)