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
AHRR_chr5_316714_443285	357096	GGAGTGGA others(241): Show GGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAG GAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAG TCAGCGACTGAGGAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGT CCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCCT CAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGC	G G	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA19085.hp1 NA18943.hp1 NA19085.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0005 a0002c0002 a0005c0005	a0002c0002t0001 a0005c0005t0015 a0002c0002t0001 a0005c0005t0015	a0002c0002t0001g0201 a0005c0005t0015g0182 a0002c0002t0001g0201 a0005c0005t0015g0182	2	268	0.0075	-248	c.244 others(17): Show c.244+3357_244+3604del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	357468	GGAGTGGA others(241): Show GGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGGG GAAGAGCGCCCGCGAGTGGAGGCCCTCAGACACGGAGTCCACCCGGGCAG TCAGCGACTGGGGAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGT CCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCCT CAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGGGGAAGAGCGCCCGC	G G	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0041 a0001c0001t0003g0041	1	268	0.0037	-248	c.244 others(17): Show c.244+3605_244+3852del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	357733	TCACGGAG others(241): Show TCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAGT GGAGGCCGTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGA GCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGC GACTGAGGAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGTCCACC CGGGCAGTCAGCGACTGGGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0107 a0002c0002t0001g0107	1	268	0.0037	-248	c.244 others(17): Show c.244+3853_244+4100del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	358167	TCACGGAG others(241): Show TCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAGT GGAGGCCGTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGA GCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGC GACTGAGGAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGTCCACC CGGGCAGTCAGCGACTGGGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGA	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01358.hp1 HG01070.hp2 HG01358.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0056 a0002c0002t0010 a0001c0001t0056 a0002c0002t0010	a0001c0001t0056g0177 a0002c0002t0010g0015 a0001c0001t0056g0177 a0002c0002t0010g0015	2	268	0.0075	-248	c.244 others(17): Show c.244+4287_244+4534del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	358212	CGAGTGGA others(241): Show CGAGTGGAGGCCGTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAG GAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAG TCAGCGACTGAGGAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGT CCACCCGGGCAGTCAGCGACTGGGGAAGAGCGCCCGCGAGTGGAGGCCCT CAGACACGGAGTCCACCCGGGCAGTCAGCGACTGGGGAAGAGCGCCCGG	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA18950.hp2 NA18962.hp1 others(1): Show HG02145.hp1 NA18950.hp2 NA18962.hp1 NA20300.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0003 a0002c0002 a0004c0003	a0002c0002t0001 a0002c0002t0011 a0004c0003t0009 others(1): Show a0002c0002t0001 a0002c0002t0011 a0004c0003t0009 a0004c0003t0014	a0002c0002t0001g0216 a0002c0002t0011g0213 a0004c0003t0009g0245 others(1): Show a0002c0002t0001g0216 a0002c0002t0011g0213 a0004c0003t0009g0245 a0004c0003t0014g0220	4	268	0.0149	-248	c.244 others(17): Show c.244+4313_244+4560del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	358460	GGAGTGGA others(241): Show GGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAG GAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAG TCAGCGACTGAGGAAGAGCGCCCGGGAGTGGAGGCCGTCAGTCACGGAGT CCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCAAGTGGAGGCCCT CAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGC	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02109.hp1 HG02451.hp2 others(11): Show HG01261.hp1 HG02109.hp1 HG02451.hp2 HG02572.hp2 HG02818.hp1 HG02886.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03453.hp2 HG03540.hp1 NA18998.hp2 NA19240.hp2	a0002 a0004 a0006 others(1): Show a0002 a0004 a0006 a0007	a0002c0002 a0004c0003 a0006c0006 others(1): Show a0002c0002 a0004c0003 a0006c0006 a0007c0007	a0002c0002t0011 a0004c0003t0007 a0004c0003t0009 others(5): Show a0002c0002t0011 a0004c0003t0007 a0004c0003t0009 a0004c0003t0033 a0004c0003t0037 a0006c0006t0030 a0007c0007t0007 a0007c0007t0023	a0002c0002t0011g0197 a0004c0003t0007g0221 a0004c0003t0007g0230 others(11): Show a0002c0002t0011g0197 a0004c0003t0007g0221 a0004c0003t0007g0230 a0004c0003t0007g0237 a0004c0003t0007g0246 a0004c0003t0007g0266 a0004c0003t0009g0224 a0004c0003t0009g0232 a0004c0003t0009g0248 a0004c0003t0033g0242 a0004c0003t0037g0223 a0006c0006t0030g0241 a0007c0007t0007g0247 a0007c0007t0023g0225	14	268	0.0522	-248	c.244 others(17): Show c.244+4659_244+4906del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	358646	CAAGTGGA others(241): Show CAAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAG GAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAG TCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGT CCACCCGGGCAGTCAGCGACTGGGGAAGAGCGCCCGGGAGTGGAGGCCCT CAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGGGGAAGAGCGCCCGG	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03130.hp2 HG02896.hp2 HG03130.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0010 a0004c0003t0014 a0004c0003t0010 a0004c0003t0014	a0004c0003t0010g0157 a0004c0003t0014g0244 a0004c0003t0010g0157 a0004c0003t0014g0244	2	268	0.0075	-248	c.244 others(17): Show c.244+4736_244+4983del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10			chr5	TogoVar
AHRR_chr5_316714_443285	358782	CTCAGTCA others(241): Show CTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGGGGAAGAGCGCCCG GGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGGG GAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAG TCAGCGACTGGGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGT CCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCG	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp2 HG02273.hp1 others(4): Show HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02809.hp2 HG02897.hp2 HG03225.hp1 NA20129.hp2	a0004 a0006 a0016 a0004 a0006 a0016	a0004c0003 a0006c0006 a0016c0012 a0004c0003 a0006c0006 a0016c0012	a0004c0003t0007 a0004c0003t0014 a0004c0003t0023 others(4): Show a0004c0003t0007 a0004c0003t0014 a0004c0003t0023 a0004c0003t0027 a0004c0003t0034 a0006c0006t0031 a0016c0012t0020	a0004c0003t0007g0235 a0004c0003t0014g0240 a0004c0003t0023g0228 others(4): Show a0004c0003t0007g0235 a0004c0003t0014g0240 a0004c0003t0023g0228 a0004c0003t0027g0092 a0004c0003t0034g0229 a0006c0006t0031g0226 a0016c0012t0020g0239	7	268	0.0261	-248	c.244 others(17): Show c.244+4907_244+5154del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	359084	TGGAGGCC others(241): Show TGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAG AGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAG CGACTGAGGAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGTCCAC CCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGT CACGGAGTCCACCCGGGCAGTCAGCGACTGGGGAAGAGCGCCCGCGAGG	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0177 a0001c0001t0056g0177	1	268	0.0037	-248	c.244 others(17): Show c.244+5243_244+5490del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	359154	CTCAGTCA others(241): Show CTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCG GGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAG GAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAG TCAGCGACTGGGGAAGAGCGCCCGCGAGGGGAGGCCCTCAGTCACGGAGT CCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCG	C C	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0015 a0002c0002t0010g0015	1	268	0.0037	-248	c.244 others(17): Show c.244+5263_244+5510del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10639082	AGTTGCGC others(241): Show AGTTGCGCGGCGATGTTAGGCGGTGACGCGGAGTTGCGCGGCGATGTTAG CGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGCGTTGCG CGGCGATGTTAGGCGGTGACGTGGAGTTGCGCGGCGATGTTAGCGGGTGA CGTGGGGTTGCGCGGCGATGTTAGGCGGTGACGTGGAGTTGCGCGGCGAT GTTAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGTGGG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02809.hp1 NA20300.hp1 HG02280.hp2 HG02809.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0032 a0001c0001t0001g0209 a0001c0001t0012g0019 a0001c0001t0001g0032 a0001c0001t0001g0209 a0001c0001t0012g0019	3	324	0.0093	-248	c.637 others(17): Show c.637+1007_637+1254del	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10639350	CGGTGACG others(241): Show CGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCGC GGCGATGTTAGCGGGTGACGCGGGGTTGCGCGGCGATGTTAGGCGGTGAC GCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGATG TTAGCGGGTGACGCGGCGTTGCGCGGCGATGTTAGGCGGTGACGTGGAGT TGCGCGGCGATGTTAGGCGGTGACGTGGAGTTGCGCGGCGATGTTAGCG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01106.hp1 HG00099.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0172 a0001c0001t0001g0054 a0001c0001t0001g0172	2	324	0.0062	-248	c.637 others(17): Show c.637+1252_637+1499del	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ARHGEF9_chrX_63629967_63790214	63731333	CTAGATTC others(241): Show CTAGATTCCTTTTAATACAGCCTTGAAAACGCTCTGGCTATCTTGCCCAA AGTGTTGAAGGATAATCATCCTCCCTATTTTTGGGAAGGTGTGAACCAGG CTGCCCCAACAATAGCTATGAGGTACCATGGTGTACAGTAAAGACTCAGA TTGGCTATTGGAAGAAAATCTGCCAGTAACTCACCAAATGATCTTGGACA GGTCCCTTTCCCTGTCTCAGTTTTTTTTTTTTTTTTTTTTTTTTTTAGA	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03098.hp1 HG02922.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0028 a0001c0001t0002g0027 a0001c0001t0001g0028 a0001c0001t0002g0027	2	168	0.0119	-248	c.31- others(15): Show c.31-6870_31-6623del	ARHGEF9	ENSG00000131089.17	transcript	ENST00000671741.2	protein_coding	1/9			chrX	TogoVar
ASAP1_chr8_130047104_130448674	130049247	GGGGGGCA others(241): Show GGGGGGCAGAGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAG AGGGGAACACATGGGGGGCAGAGGGGAACACATGGGGGGCAGAGGAGAAC ACATGGGGGCAGAGGAGAACACATGGGGGGCAGAGGGGAACACATGGGGG GCAGAGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGG AATACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGGAACACAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02622.hp1 HG03654.hp1 HG02258.hp2 HG02622.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0020 a0001c0001t0001g0039 a0001c0001t0014g0049 a0001c0001t0001g0020 a0001c0001t0001g0039 a0001c0001t0014g0049	3	308	0.0097	-248	c.52 others(11): Show c.5236_*5483del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2856		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049360	GGAGAACA others(241): Show GGAGAACACATGGGGGGCAGAGGGGAACACATGGGGGGCAGAGGGGAACA CATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATACATGGGGGG CAGAGGAGAACACATGGGGGCAGAGGGGGAACACATGGGGGCAGAGGGGA ACACATGGAGGGCAGAGGGGAACACATGGGGGGCAGAGGAGAACACATGG GGGCAGAGGGGAATACATGGGGGGCAGAGGGGAACACATGGAGGGCAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	308	0.0033	-248	c.51 others(11): Show c.5123_*5370del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2743		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049889	GGGGGCAG others(241): Show GGGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACACATGGGGGGCAG AGGAGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACA CATGGGGGGCAGAGGGGAACACATGGGGGGCAGAGGGGAACACATGGGGG CAGAGGGGAATACATGGGGGGCAGAGGAGAACACATGGAGGGCAGAGGAG AACACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGGGAACACAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00597.hp1 HG00621.hp1 others(18): Show HG00558.hp1 HG00597.hp1 HG00621.hp1 HG01168.hp2 HG01169.hp2 HG01258.hp2 HG01934.hp2 HG01993.hp1 HG04199.hp1 NA18747.hp1 NA18947.hp1 NA18952.hp2 NA18960.hp2 NA18963.hp2 NA18964.hp1 NA18985.hp1 NA18990.hp1 NA19001.hp2 NA19009.hp2 NA19011.hp1 NA19080.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0003 a0002c0002t0004 a0002c0002t0023 others(1): Show a0002c0002t0003 a0002c0002t0004 a0002c0002t0023 a0002c0003t0001	a0002c0002t0003g0109 a0002c0002t0003g0110 a0002c0002t0003g0113 others(18): Show a0002c0002t0003g0109 a0002c0002t0003g0110 a0002c0002t0003g0113 a0002c0002t0003g0120 a0002c0002t0003g0121 a0002c0002t0003g0122 a0002c0002t0003g0123 a0002c0002t0003g0127 a0002c0002t0003g0134 a0002c0002t0003g0136 a0002c0002t0003g0152 a0002c0002t0003g0197 a0002c0002t0003g0237 a0002c0002t0003g0238 a0002c0002t0004g0107 a0002c0002t0004g0111 a0002c0002t0004g0112 a0002c0002t0004g0230 a0002c0002t0004g0231 a0002c0002t0023g0124 a0002c0003t0001g0029	21	308	0.0682	-248	c.45 others(11): Show c.4594_*4841del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2214		chr8	TogoVar
ASMT_chrX_1610059_1648081	1624505	CCAGGCAG others(241): Show CCAGGCAGATGCTGGGAGGTGGGGGCTGACCCCAGGCAGATGCTGGGAGG TGGGGGCTGCACCCAGGCAGATGCTGGGAGGTGGGGGCTGCCCCCAGGCA GATGCTGGGAGGTGGTGGCTGCACCCAGGCAGATGCTGGGAGGTGGGGGC TGCCCCCAGGCAGATGCTGGGAGGTGGTGGCTGACCACAGGCAGATGCTG GGAGGTGGGGGCTGACCCCAGGCAGATGCTGGGAGGTGGTGGCTGACCA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0181 a0002c0002t0002g0181	1	223	0.0045	-248	c.374 others(15): Show c.374+198_374+445del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1639106	TCATGAGG others(241): Show TCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCC AGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACA CAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCC ATCCATCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGA TAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCA	T T	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0188 a0002c0002t0002g0188	1	223	0.0045	-248	c.910 others(17): Show c.910+2583_910+2830del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1639762	GCACATGA others(241): Show GCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTC CCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGA CACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGAT CCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGA GATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGA	G G	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0130 a0002c0002t0001g0130	1	223	0.0045	-248	c.911 others(17): Show c.911-3040_911-2793del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8			chrX	TogoVar
ASMT_chrX_1610059_1648081	1640447	CTGTGTGT others(241): Show CTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCA TCCTGATGCTTCATGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGAC AGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGAT GTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTG TGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTG	C C	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0062 a0001c0003t0001g0062	1	223	0.0045	-248	c.911 others(17): Show c.911-2346_911-2099del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1640723	GTCCTGTG others(241): Show GTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGC CTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACC CATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGG GGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGA GGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTC	G G	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA18950.hp1 NA19081.hp2 HG03516.hp2 NA18950.hp1 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0084 a0001c0001t0001g0086 a0002c0002t0002g0160 a0001c0001t0001g0084 a0001c0001t0001g0086 a0002c0002t0002g0160	3	223	0.0135	-248	c.911 others(17): Show c.911-2070_911-1823del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1640766	GCACAGCC others(241): Show GCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAG GTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGT GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGG CACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCC CAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA19240.hp1 HG02559.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	223	0.0090	-248	c.911 others(17): Show c.911-2019_911-1772del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1641080	GTTCATGA others(241): Show GTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTC CCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGA CACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGAT CCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGA GATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA19240.hp1 HG02559.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	223	0.0090	-248	c.911 others(17): Show c.911-1721_911-1474del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1641114	AGATAGGG others(241): Show AGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGA TCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCC CAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCA CAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTC CACCCATCCTGATGATCCATTAGGATGTGGACACAGCCTCTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG02630.hp2 others(3): Show HG01891.hp1 HG02109.hp1 HG02630.hp2 NA18947.hp2 NA18980.hp1 NA18999.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0007 a0001c0003t0001g0032 a0002c0002t0001g0069 others(3): Show a0001c0001t0001g0007 a0001c0003t0001g0032 a0002c0002t0001g0069 a0002c0002t0001g0085 a0002c0002t0001g0208 a0002c0002t0002g0207	6	223	0.0269	-248	c.911 others(17): Show c.911-1669_911-1422del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1641281	ATAGGGAC others(241): Show ATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATC CATTAGGATGTGGACACAGCCTCTGTGTGTGTGATAGGGACCATGTCCCA GTGTCCTGTGAGGTCCACCTATCCTGATGGTCCATGAGGATGTGGACACA GCCGCTCTGTGTGTGATGGGGACAGTGTCCCAGCTCTCCTGTGAGGTCCA TCCATCCTGATGGTTCATGGGGACGTGAGCACAGCCTCTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp2 HG01884.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0002g0184 a0001c0003t0001g0070 a0001c0001t0002g0184 a0001c0003t0001g0070	2	223	0.0090	-248	c.911 others(17): Show c.911-1520_911-1273del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP1A3_chr19_41961582_41999230	41991891	GTCTGAGG others(241): Show GTCTGAGGGAGGAGGGGCTGGGCCTGGACCCCTGGGTCTGAGGGAGGAGG GGCTGGGGCCTGGATTCCTGGTCTGAGGGAAGAGGGGCTGGGGCCTGGAC TCCTGGATCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCTGGATCTGAGG GAGGAGGGGCTGGGGCCTGGACTCCTGGTCTGAGGGAGGAGGGGCTGGGG CCTGGACTCCTGGTCTGAGGGAAGAGGGGCTGGGGCCTGGACTCCTGGA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp2 HG02897.hp2 others(4): Show HG01891.hp2 HG02055.hp2 HG02897.hp2 HG02976.hp2 HG03471.hp1 HG03540.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0138 others(4): Show a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0203	7	282	0.0248	-248	c.6+1 others(13): Show c.6+1932_6+2179del	ATP1A3	ENSG00000105409.19	transcript	ENST00000648268.1	protein_coding	1/22			chr19	TogoVar
C13orf46_chr13_113948705_113979076	113949980	TCCATCTG others(241): Show TCCATCTGTAGAGTGGGGTCCTCGCCCCCTGCCTCGGGCACCTCGGTGCT CCCATCTGTAGAGTGGGGTCATCACTCTTGCCTGAGGGACCTCAATGCAC CCATCTGTAGAGTGGGGTCATCACCCCCTGCCTCAGAGACCTCGGTGCTC CCATCTGGAGAATATGGTCATCACCCCCACCTTGGGGACCTCACTGCTCC CATCTGTAGAGTGGGGTCCTCACCCCCTGCCTTGGGAACCTCGGTGCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02886.hp1 HG03486.hp2 HG02451.hp1 HG02886.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0073 a0001c0001t0088 a0001c0001t0038 a0001c0001t0073 a0001c0001t0088	a0001c0001t0038g0133 a0001c0001t0073g0112 a0001c0001t0088g0246 a0001c0001t0038g0133 a0001c0001t0073g0112 a0001c0001t0088g0246	3	414	0.0073	-248	c.65 others(11): Show c.6545_*6792del	C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding		3724		chr13	TogoVar
C2CD3_chr11_74007718_74176002	74116769	CATATATG others(241): Show CATATATGTGTGTATATATATACACACACACACGTATATATATACACACA CATATATACGTGTGTGTATATATACACGTGTATATGTGTATATACACGTG TATATGTATATATACACACGTGTATATATACACACGTGTATGTATATATA CATATACACGTGTATATACACATATACACGTATATATGTGTATATACACA TATACACGTATATATACACATATACGTGTATATGTATATATACACATAT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00609.hp2 others(1): Show HG00438.hp1 HG00558.hp1 HG00609.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 others(1): Show a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159	4	318	0.0126	-248	c.152 others(19): Show c.1520+1211_1520+1458del	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	9/32			chr11	TogoVar
C7orf50_chr7_992006_1143247	1073714	GCCCCCGA others(241): Show GCCCCCGACCCCTCACCCCGCTGCCGTCACACACCCCGACCCCGCTGCCG TCACTCCCCACGACCCCCCACCCCGCTGCCGTCACGCTCCGTGACCCCCG ACCCCGACACCCTGCTGCCGTGATGTTCCCCCAACCCTGCACCCCGCTGC CGTGACGCCCGCCCCGACCCCGCACCCCGCTGCTGTCACGCCCCCGACCC CGCACCCCGCCGCCGTCACGCCCGACCCCTCACCCCGCTACTGTGACGC	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02280.hp2 HG02055.hp1 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0249 a0001c0001t0003g0250	2	326	0.0061	-248	c.129 others(19): Show c.129+53295_129+53542del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CCNF_chr16_2424447_2463854	2442423	TAATATTA others(241): Show TAATATTATTATATATAATATATAATATTATATAATATAATATTATTATA TATAATATATAATATTATATAATATAATATTATTATATATAATATATAAT ATTATATAATATAATATTATTATATATAATATATAATATTATATAATATA ATATTATTATATATAATATATAATATTATATAATATAATATTATATATAA TATATAATATTATATAATATAATATTATTATATATAATATATAATATTA	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0014 a0001c0001t0006g0014	1	276	0.0036	-248	c.778 others(16): Show c.778-1225_778-978del	CCNF	ENSG00000162063.13	transcript	ENST00000397066.9	protein_coding	8/16			chr16	TogoVar
CDC123_chr10_12191188_12255589	12247001	TCTCACCT others(241): Show TCTCACCTCCCACTCTGGACACTGTGTCCTCCTCTCTCACCGCCCACTCC GGACACTGTGTCCTCCTCTCTCTCACCTCCCCCTCAGGACACTGTCCTCC TCTCTCACCTCCCACTCCAGACACTGTGTCCTCCTCTCTCTCACCTCCCC CTCAGGGCACCGTGTCCCCCTCTCTCACCTCCCCCTCAGGACACTGTCCT CCTCTCTCACCTCCCACTCTGGACACTGTGTCCTCCTCTCTCTCACCTC	T T	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	392	0.0026	-248	c.846 others(15): Show c.846+726_846+973del	CDC123	ENSG00000151465.14	transcript	ENST00000281141.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CDK12_chr17_39456486_39539544	39498963	CTTTCTTT others(241): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0021 a0001c0002t0021g0021	1	260	0.0039	-248	c.242 others(19): Show c.2420-2283_2420-2036del	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP54_chr12_96484577_96880555	96512149	GAATATAA others(241): Show GAATATAACGTGCCCTGTTATGCATTATGATTTTTAAATTATTATGAGTT TCCTTGTTGAGTATTTTGCCATGCTGATTAAATATGTATTCTGATCTTAT TTGGAGATAAATCTTTAGTTTTTAAATGATAAGGAAACCATGGGAACCAA TTTTATATATATATATATATATATATATATATATATATATATATATATAT ATGTATATATTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTAGAGTGC	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02896.hp1 HG03098.hp1 others(1): Show HG02109.hp2 HG02896.hp1 HG03098.hp1 HG03579.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0001 a0004c0011t0001	a0004c0011t0001g0117 a0004c0011t0001g0118 a0004c0011t0001g0119 others(1): Show a0004c0011t0001g0117 a0004c0011t0001g0118 a0004c0011t0001g0119 a0004c0011t0001g0120	4	268	0.0149	-248	c.740 others(15): Show c.740-835_740-588del	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	4/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNTNAP3B_chr9_41885536_42134426	42118830	TCAAAATC others(241): Show TCAAAATCAAGATTTTGTATCTTGATTTGATACAAAATCAAGATTTTGTA TCTTGATTTGATACAAAATCAAGATTTTGTATCTTGATTTGATACAAAAT CAAGATTTTGTATCTTGATTTGATACAAAATCAAGATTTTGTATCTTGAT TTGATACAAAATCAAGATTTTGTATCTTGATTTGATACAAAATCAAGATT TTGTATCTTGATTTGATACAAAATCAAGATTTTGTATCTTGATTTGATA	T T	intron_variant intron_variant	MODIFIER	HG03490.hp1 NA18968.hp2 HG03490.hp1 NA18968.hp2	a0004 a0011 a0004 a0011	a0004c0004 a0011c0040 a0004c0004 a0011c0040	a0004c0004t0005 a0011c0040t0007 a0004c0004t0005 a0011c0040t0007	a0004c0004t0005g0029 a0011c0040t0007g0003 a0004c0004t0005g0029 a0011c0040t0007g0003	2	108	0.0185	-248	c.85+ others(16): Show c.85+9932_85+10179del	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	1/23			chr9	TogoVar
CST9_chr20_23597410_23610917	23609031	TGGCAAAT others(241): Show TGGCAAATTTAAACTGAGAAAGAGGAATAATGATTGAATTAAAAAATGAC AAAAGGAGAAATAAAAATACAAACATTACCGGTAAATATAGAGGCCTAAA TCAGGGGTCATTCGTACCACATGCAAATCGGAAGGCCCATGGGCTGTTTC TTCTCCTTCCTGTGGGTCCAGCAGGTCCCTCACCCTGGCTAAGTCGGGGG TGCTGCCCTGGGCCCAGGAGCTTTGCTCTGAAGAGGAAGTGCTGCCCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	422	0.0024	-248	c.-34 others(11): Show c.-3415_-3168del	CST9	ENSG00000173335.5	transcript	ENST00000376971.4	protein_coding		3115		chr20	TogoVar
DDX51_chr12_132131594_132149319	132134826	CCCCGAGT others(241): Show CCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCGAGTGTGCCCA CGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCC CACCTCCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCGAGTG TGCCCACGGTGCCCACTCCTCCCACCTCTCCGAGTGTGCCCACGGTGCCC ACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0004 a0002c0002t0004g0004	1	334	0.0030	-248	c.41 others(11): Show c.4198_*4445del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1767		chr12	TogoVar
DEAF1_chr11_639233_700222	664411	CCAGCTAT others(241): Show CCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACT CTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCA CACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAG GACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACAC CGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02735.hp1 HG03669.hp2 others(6): Show HG01167.hp2 HG02735.hp1 HG03669.hp2 HG03831.hp1 HG04228.hp2 NA18993.hp1 NA19066.hp2 NA19070.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0282 a0001c0001t0001g0288 a0001c0001t0001g0291 others(6): Show a0001c0001t0001g0282 a0001c0001t0001g0288 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0297 a0001c0002t0001g0223 a0001c0002t0001g0340 a0001c0002t0001g0342 a0001c0003t0001g0154	9	345	0.0261	-248	c.150 others(20): Show c.1503+9877_1503+10124del	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	10/11			chr11	TogoVar
DHRS12_chr13_51762993_51809163	51774376	TGTATTCT others(241): Show TGTATTCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACAGT ATTCTCCTACATGTATTCTCCTACAGTACATGTATTCTCCTACAGTATTC TCCTACAGTATTCTCCTACATGTATTCTCCTACAGTATTCTCCTACAGTA TTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATTCTCCTACATG TATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTACA	T T	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	420	0.0024	-248	c.364 others(15): Show c.364-590_364-343del	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DLGAP2_chr8_732628_1713476	1461985	GGGTTGGG others(241): Show GGGTTGGGAGAAGGTGCTGCTGTCACGTGGGCTGGGTGCAGTCGCTGATT TGGTGGCCAGGAGGAGGGAGAAGGGCGGCATTTGGGTTGGGAGAAGGTGC TGCTGTCACAGGACTGGGTGCAGTCGCTGATTCGATGACCAGGAGGAGGG AGAAGGGTGGCATTTGGGTTGGGAGAAGGTGCTGCTGTCAGGTGGGCTGG GTGCAGTCACTGATTTGGTGGCCAGGAGGAGGGAGAAGGGTGGCGTTCA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02818.hp1 HG02976.hp2 others(2): Show HG00639.hp2 HG02818.hp1 HG02976.hp2 HG03486.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0009 a0001c0010 a0001c0002 a0001c0009 a0001c0010	a0001c0002t0001 a0001c0002t0022 a0001c0002t0027 others(2): Show a0001c0002t0001 a0001c0002t0022 a0001c0002t0027 a0001c0009t0012 a0001c0010t0025	a0001c0002t0001g0015 a0001c0002t0022g0034 a0001c0002t0027g0023 others(2): Show a0001c0002t0001g0015 a0001c0002t0022g0034 a0001c0002t0027g0023 a0001c0009t0012g0006 a0001c0010t0025g0012	5	40	0.1250	-248	c.107 others(19): Show c.107-39355_107-39108del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1643644	CCCCGCCG others(241): Show CCCCGCCGGTCCTCACCTGTGTCACCCTCCAACCCGCCGGTCCTCACCTG TGTCACCCTCGACCCCGCCGGCCCTCACCTGTGTCACCCTCGACCCCGCC GGCCCTCACCTGTGTCACCCTCCAACCCGCCGGTCCTCACCTGTGTCACC CTCGACCCCGCCGGCCCTCACCTGTGTCACCCTCGACCCCGCCGGCCCTC ACCTGTGTCACCCTCGACCCCGCCGGCCCTCACCTGTGTCACCCTCCAA	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0023 a0001c0002t0027g0023	1	40	0.0250	-248	c.181 others(21): Show c.1810+10627_1810+10874del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DVL1_chr1_1330278_1354418	1350675	CTGGACGG others(241): Show CTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGG CAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGAC GGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTG AGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGC CTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	344	0.0029	-248	c.-18 others(11): Show c.-1858_-1611del	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		1258		chr1	TogoVar
ERICH1_chr8_659200_736224	675991	ACGCGGCG others(241): Show ACGCGGCGCCCCCCCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGA CAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTG AGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCT CGGCGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCG GCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01192.hp1 HG01175.hp1 HG01192.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0111 a0001c0002t0001g0112	2	378	0.0053	-248	c.305 others(17): Show c.305-2192_305-1945del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
GCN1_chr12_120122202_120199715	120152280	CAGCCTCC others(241): Show CAGCCTCCTAAAGCACTGGGATTATAGGCATGAGCCACCACGCCCAGCCC AACTGTTCACTTTATGAAGACACTCTAAGTGGTCCAAAATGCAAACCACA CACACACGCGCACACACACACACACACACACAAAATATATATATATAAAT ATATATATATTTATATATATATACATGCGTGTTTTTCAAAACAAAGAAAA AGAAATTTATTTGCACTGTAGCTTAGAGGCTACATTAAAACGCACCTGT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0080 a0001c0014t0001g0080	1	312	0.0032	-248	c.406 others(17): Show c.4062+685_4063-890del	GCN1	ENSG00000089154.11	transcript	ENST00000300648.7	protein_coding	33/57			chr12	TogoVar
HDHD5_chr22_17132520_17164277	17146834	CCATCGCA others(241): Show CCATCGCACACGCCCCACACCTGTGACGCCCTCCTGTGAGCTTACCGGCC TTCGATCACACGCCATCGCACACGCCCCACACCTGTGACGCCCTCCTGTG AGCTTACCGGCCTTCGATCACACGCCATCGCACACGCCCCACACCTGTGA CGCCCTCCTGTGAGCTTACCGGCATTCGATCACACGCCATCGCACACGCC CCACACCTGTGACGCCCTCCTGTGAGCTTACCGGCCTTCGATCACACGT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp2 HG02071.hp1 others(22): Show HG00408.hp2 HG00544.hp2 HG02071.hp1 HG02080.hp2 HG02083.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02735.hp1 HG03239.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03942.hp1 NA18963.hp1 NA18971.hp1 NA18978.hp2 NA18983.hp2 NA18991.hp2 NA18992.hp2 NA18994.hp1 NA19009.hp1 NA19055.hp2 NA19056.hp2 NA19067.hp2	a0001 a0001	a0001c0002 a0001c0012 a0001c0013 others(1): Show a0001c0002 a0001c0012 a0001c0013 a0001c0015	a0001c0002t0001 a0001c0012t0001 a0001c0013t0001 others(1): Show a0001c0002t0001 a0001c0012t0001 a0001c0013t0001 a0001c0015t0001	a0001c0002t0001g0024 a0001c0002t0001g0044 a0001c0002t0001g0189 others(19): Show a0001c0002t0001g0024 a0001c0002t0001g0044 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0012t0001g0216 a0001c0013t0001g0054 a0001c0015t0001g0193	25	422	0.0592	-248	c.443 others(17): Show c.443+1366_443+1613del	HDHD5	ENSG00000069998.12	transcript	ENST00000336737.8	protein_coding	3/7			chr22	TogoVar
HDHD5_chr22_17132520_17164277	17147007	ATTCGATC others(241): Show ATTCGATCACACGCCATCGCACACGCCCCACACCTGTGACGCCCTCCTGT GAGCTTACCGGCCTTCGATCACACGTCATCGCACACGCCCCACACCTGTG ACGCCCTCCTGTGAGCTTACCGGCCTTCGATCACACGCCATCGCACACGC CCCACACCTGTGACGCCCTCCTGTGAGCTTACCGGCCTTCGATCACACGC CATCGCACACGCCCCACACCTGTGACGCCCTCCTGTGAGCTTACCGGCC	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03516.hp1 HG06807.hp1 HG03209.hp2 HG03516.hp1 HG06807.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0272 a0002c0003t0001g0273 a0002c0003t0001g0275 a0002c0003t0001g0272 a0002c0003t0001g0273 a0002c0003t0001g0275	3	422	0.0071	-248	c.443 others(17): Show c.443+1193_443+1440del	HDHD5	ENSG00000069998.12	transcript	ENST00000336737.8	protein_coding	3/7			chr22	TogoVar
IGF2R_chr6_159964082_160116504	159980138	ACCGCTGC others(241): Show ACCGCTGCACTCCAGCCTGGGCAACACAGTGAGACTCCGTCTCAAAAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGGTACATGGAAGATTCGATTGCTTGGATTGCCTTAGGGAACTATGAGAT CCCTAGGTGAGGGTTGCAGTTGAGCATGGTAGCTGCTTTTCCTCTTCAGG TTGCCTTTAGGCTGCGATGGAGATAGCATGAGCTCTGGAGCAGGACAGG	A A	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0028 a0001c0001t0005g0028	1	310	0.0032	-248	c.149 others(19): Show c.149+10745_150-10797del	IGF2R	ENSG00000197081.16	transcript	ENST00000356956.6	protein_coding	1/47		INFO_REALIGN_3_PRIME	chr6	TogoVar
INPP5E_chr9_136423619_136444845	136431475	CCCCCAGG others(241): Show CCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGG CCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACC TTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCA TCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTC CACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCG	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG04184.hp2 HG01496.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0003 a0001c0002t0002 a0001c0003t0003	a0001c0002t0002g0145 a0001c0003t0003g0042 a0001c0002t0002g0145 a0001c0003t0003g0042	2	382	0.0052	-248	c.154 others(17): Show c.1549+101_1549+348del	INPP5E	ENSG00000148384.14	transcript	ENST00000371712.4	protein_coding	7/9			chr9	TogoVar
KCNG2_chr18_79792938_79905100	79830724	AGACAGAG others(241): Show AGACAGAGCCTTCGTCAGGAGGGTTCCCTGCGGACAGAGCCTTCGTCAGG AGGGTTCCCTGCGGACAGAGCCTTCGTCAGGAGGGTTCCCTGCATACAGA GCCTTCGTCAGGAGCGTTCTCTGCGGACAGAGCCTTCGTCAGGAGGGTTC CCTGCATACAGAGCCTTCGTCAGGAGGGTTCCCTGCGGACAGAGCCTTCG TCAGGAGGGTTCCCTGCGGACAGAGCCTTCGTCAGGAGGGTTCCCTGCG	A A	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0032 a0002c0002t0002g0032	1	312	0.0032	-248	c.-11 others(21): Show c.-114-25562_-114-25315del	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79830880	TACAGAGC others(241): Show TACAGAGCCTTCGTCAGGAGGGTTCCCTGCGGACAGAGCCTTCGTCAGGA GGGTTCCCTGCGGACAGAGCCTTCGTCAGGAGGGTTCCCTGCGGACAGAG CCTTCGTCAGGAGGGTTCCCTGCGGACAGAGCCTTCGTCAGGAGGGTTCC CTGCGGACAGAGCCTTCGTCAGGAGGGTTCCCTGCGGACAGAGCCTTCGT CAGGAGGGTTCCCTGCGGACAGAGCCTTCGTCAGGAGGGTTCCCTGCGG	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0226 a0001c0005t0001g0226	1	312	0.0032	-248	c.-11 others(21): Show c.-114-25076_-114-24829del	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79831303	GGTTCCCT others(241): Show GGTTCCCTGCGGACAGAGCCTTCGTCAGGAGGGTTCCCTGCGGACAGAGC CTTCGTCAGGAGGGTTCCCTGCGGACAGAGCCTTCGTCAGGAGGGTTCCC TGCGGACAGAGCCTTCGTCAGGAGGGTTCCCTGCGGACAGAGCCTTCGTC AGGAGGGTTCCCTGCGGACAGAGCCTTCGTCAGGAGGGTTCCCTGCGGAC AGAGCCTTCGTCAGGAGGGTTCCCTGCGGACAGAGCCTTCGTCAGGAGC	G G	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0293	1	312	0.0032	-248	c.-11 others(21): Show c.-114-25073_-114-24826del	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr18	TogoVar

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