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
SYCP1_chr1_114849863_115000370	114902451	CAAAAAGG others(356): Show CAAAAAGGGCCACAGGGACTCTCAGCAAAGAGAGAGTCCTGCTAGCAGGC TTTCTGCATCACAGATTGAATCCCTGGTTACCACATAAGAGCAGGAGGGG TCAAGTTCATCCCCCACCCCGCAAACGGCAGGAGCTTCCTGAGGCCCCGC CCTGTCCTCCCAGTGGGCAGGCTTATCGGAGGTTCTCCAGGGTGCTCTTT TTACTTGGCCGTCTCATTATATATGAACAACATCAATATCTGGATTCTCA GGATCAGAATGTCTTGATTGGTGTGCAGCTCTTTACTTGTTAGCTATATG ATCAAGAGCAGTTTACCTAAACTCTTGATGCCTCAGTTTTTCCATCTATG AAATGGAAAAAATA	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02257.hp2 HG02258.hp2 others(7): Show HG01433.hp1 HG02257.hp2 HG02258.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG03098.hp2 HG03225.hp2 HG03453.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0001 a0001c0003t0002g0151 a0001c0003t0002g0152 others(6): Show a0001c0003t0002g0001 a0001c0003t0002g0151 a0001c0003t0002g0152 a0001c0003t0002g0153 a0001c0003t0002g0157 a0001c0003t0002g0180 a0001c0003t0002g0181 a0001c0003t0002g0182 a0001c0003t0002g0183	10	312	0.0321	-363	c.132 others(19): Show c.1320+6944_1320+7306del	SYCP1	ENSG00000198765.12	transcript	ENST00000369522.8	protein_coding	16/31		INFO_REALIGN_3_PRIME	chr1	TogoVar
TRIM49_chr11_89792655_89813575	89810646	GTCAACTC others(356): Show GTCAACTCCATAAATCCTCAAATCTCTCAACGTATTTTCTCACTTAGAGC CACAGAAACACATATGATTCCTTCTGTGCTTGTGTGTTCAGGTGAGGTTC AGCCTACATTCTGAAGTTTCTTCCTCTGATGAATGAAACATTGAGTTCTT GAATATAGCTACATTATCATTAGGCTGTAAAAATCAGAATCAAATAGGTT TCCTTCCTTGAGAAAATAATGGAGGCAACAGTTACAAACAGCACTCTAGG TTTTAGATTTCAATCATGTTTTTCCTTTTCTATTCTTTTTTCTTTTCTTA GAGACAGGGTCTCACTCTGTCATCCAGACTATAGAGCAGTTGCTGGATCA TAGCTACTGCAGCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01123.hp2 HG01192.hp1 others(15): Show HG01081.hp1 HG01123.hp2 HG01192.hp1 HG02004.hp1 HG02015.hp1 HG02071.hp2 HG02129.hp1 NA18612.hp2 NA18939.hp1 NA18954.hp1 NA18955.hp1 NA18961.hp2 NA18965.hp1 NA18977.hp1 NA18994.hp1 NA19004.hp2 NA19065.hp1 NA19070.hp1	a0002 a0013 a0002 a0013	a0002c0001 a0013c0019 a0002c0001 a0013c0019	a0002c0001t0001 a0013c0019t0001 a0002c0001t0001 a0013c0019t0001	a0002c0001t0001g0001 a0002c0001t0001g0018 a0002c0001t0001g0080 others(8): Show a0002c0001t0001g0001 a0002c0001t0001g0018 a0002c0001t0001g0080 a0002c0001t0001g0086 a0002c0001t0001g0087 a0002c0001t0001g0088 a0002c0001t0001g0089 a0002c0001t0001g0090 a0002c0001t0001g0104 a0002c0001t0001g0105 a0013c0019t0001g0106	18	253	0.0712	-363	c.-27 others(11): Show c.-2763_-2401del	TRIM49	ENSG00000168930.13	transcript	ENST00000329758.5	protein_coding		2072		chr11	TogoVar
TUBGCP2_chr10_133273635_133313872	133291925	TCCCCCAT others(356): Show TCCCCCATGTCCCTCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCC TACCTGTACGGGAGAGGGCAGCACGCACCCTCCGTGTCCCCCATGTCCCT CTGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCCC GTGTCCCTCCGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCCCAT GTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCAC ACTCCGTGTCCCCCGTGTCCCTCCGTGTCCCCCATGTCCCCGTGTCCCGG GGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCG TGTCCCTCCGTGTC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	284	0.0035	-363	c.121 others(17): Show c.1214+211_1214+573del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
ZFAND2A_chr7_1147907_1165196	1156100	AAAGGGGT others(356): Show AAAGGGGTGGACCGCCCAGCAAGGCTAAAAACCTGAGCTGGGGGCTCCGA AGGGGTGGACTGCCCAGCAGCTGAAGGCCCAGCAAGGCTAAAAACCTGAG CTGGGGGCTCCGAAGGGGTGGACCGCCCAGCAGCTGAAGGCCCAGCAAGG CTAAAAACCTGAGCTGGGGGCTCCGAAGGGGTGGACCGCCCAGCAGCTGA AGGCCCAGCAAGGCTAAAAACCTGAGCTGGGGGCTCCGAAGGGGTGGACC GCCCAGCAGCTGAAGGCCCAGCAAGGCTAAAAACCTGAGCTGGGGGCTCC GAAGGGGTGGACCGCCCAGCAGCTGAAGGCCCAGCAAGGCTAAAAACCTG AGCTGGGGGCTCCG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03098.hp2 HG02280.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0102 a0001c0001t0001g0103	2	432	0.0046	-363	c.151 others(15): Show c.151-879_151-517del	ZFAND2A	ENSG00000178381.12	transcript	ENST00000316495.8	protein_coding	3/4			chr7	TogoVar
ABCG1_chr21_42214140_42302244	42283740	CCCCCCAC others(355): Show CCCCCCACCTCTGTCCTGCCTGGACAGTTGTGAAGTACCCCCCAACCCAG ATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCAAAGTCC CCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGT TGCAAAGTCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCG CCTGGACAGTTGCGAAGTCCCCCCCGCCCAGATGAGTGGGGACCCCCCCA CCTCTGTCCCGCCTGGACAGTTGCGAAGTCCCCCCCGCCCAGATGAGTGG GGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCAAAGTCCCCCCGCCC AGATGAGTGGGGA	C C	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02055.hp2 HG02145.hp2 others(1): Show HG01978.hp1 HG02055.hp2 HG02145.hp2 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0024	a0001c0001t0001g0335 a0001c0001t0002g0266 a0001c0001t0011g0045 others(1): Show a0001c0001t0001g0335 a0001c0001t0002g0266 a0001c0001t0011g0045 a0001c0001t0024g0101	4	354	0.0113	-362	c.735 others(15): Show c.735-814_735-453del	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ABCG1_chr21_42214140_42302244	42283801	CCCCCCCA others(355): Show CCCCCCCACCTCTGTCCCGCCTGGACAGTTGCAAAGTCCCCCCGCCCAGA TGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCAAAGTCCC CCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTT GCGAAGTCCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCG CCTGGACAGTTGCGAAGTCCCCCCCGCCCAGATGAGTGGGGACCCCCCCA CCTCTGTCCCGCCTGGACAGTTGCAAAGTCCCCCCGCCCAGATGAGTGGG GACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCGAAGTCCCCCCCGCCC AGATGAGTGGGGA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03831.hp2 HG00642.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0243 a0001c0001t0002g0242 a0001c0001t0001g0243 a0001c0001t0002g0242	2	354	0.0057	-362	c.735 others(15): Show c.735-752_735-391del	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ACAP3_chr1_1287391_1312930	1297327	ACGTGTGT others(355): Show ACGTGTGTGTGTGCACGGGCTTGGGGCAGGGGCCATCCCCGGTGGCACGT GTGTGTGTGCACAGGCACGGGGCAGGGGCCATCCCCAGTGGCACGTGTGT GTGTGCACAGGCGCGGGGCAGGGGCCATCCCCGGTGGCACATGTGTGCAC GGGCTTGGGGCAGGGGCCATCCCCGGTGGCACGTGTGTGTGTGCACAGGC GCGGGGCAGGGGCCATCCCCGGTGGCACGTGTGTGTGTGCACGGGCTTGG GGCAGGGGCCATCCCCGGTGGCACGTGTGTGTGTGCACAGGCACGGGGCA GGGGCCATCCCCAGTGGCACGTGTGTGTGTGCACAGGCGCGGGGCAGGGG CCATCCCCGGTGG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03453.hp1 HG02922.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0073 a0001c0001t0001g0048 a0001c0001t0001g0073	2	295	0.0068	-362	c.112 others(17): Show c.1128+133_1128+494del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding	14/23			chr1	TogoVar
ALDH16A1_chr19_49448225_49476050	49462851	ACTGGGTC others(355): Show ACTGGGTCCGAGGAAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAAG GAGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGTGCTGGGG CCTGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCTGGG TCTGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGT GCTGGGGCCCGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCCGGAT TCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCCAGACTCCTGGGTCTGAG GGAGGAGGGGCTGGCGGCCTGGACTCCTGGGTCTGAGGGAGGAGAGGCTG GGGGTCCAGACTC	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00642.hp2 others(9): Show HG00423.hp1 HG00423.hp2 HG00642.hp2 HG00738.hp2 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 NA18957.hp2 NA18980.hp2 NA19060.hp1 NA19078.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0024 a0001c0001 a0011c0024	a0001c0001t0004 a0011c0024t0004 a0001c0001t0004 a0011c0024t0004	a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0122 others(8): Show a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0122 a0001c0001t0004g0199 a0001c0001t0004g0204 a0001c0001t0004g0205 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0001t0004g0208 a0001c0001t0004g0219 a0011c0024t0004g0039	12	342	0.0351	-362	c.109 others(17): Show c.1098+104_1098+465del	ALDH16A1	ENSG00000161618.10	transcript	ENST00000293350.9	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
ATP11A_chr13_112685038_112892168	112803943	CCCTCCTT others(355): Show CCCTCCTTTTCCTCCTTTCTTCCCTTCCTTCCCTCATTCCCCTCATTCCC CTCCTTCCCTCCTTCACCTCCCTCCCTGCCATCCCCTCTCTGCCCTCCTT CCCTCCTTTTCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTC TGCCCTCCTTCCCCTCCTTTTCCTCCTTCACCTCCCTCCCCCCATCCCCT CTCTGCCCTCCTTCCCTCCTTCACCTCCCTCCCTGCCATCCCCTCTCTGC CCTCCTTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCT GCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCC TTCCCCTCCTTTT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0061 a0001c0004t0006g0061	1	254	0.0039	-362	c.163 others(16): Show c.163-1006_163-645del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP9B_chr18_79064394_79383283	79327638	CTGGTTAG others(355): Show CTGGTTAGCATGCTCTCCGTGTTTAGCGTGCTCTCCGTGGTTAGCGTGCT CTCCGTGGTTAGTGTGCTCTCTCCATGGTTAGCGTGCTCGCCGTGGTTAG CGTGCTCTCCGTGGTTAGCGTGCTCTCTGTGGTTAACGTGCTCTCCGTGG TTAGCGTGCTCTCCGTGGTTAGCGTGTTCTCCGTGGTTAGTGTGTTCTCC GTGGTTAGCGTGCTCTCCATGGTTAGCGTGCTCTCCATGGATAGTGTGCT CTCCGTGGTTAGCGTGCTCTCCGTGGGTAGCGTGCTCTCTCTGGTTAGCG TGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCTCTGGTT AGCGTGCTCTCCG	C C	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA19086.hp2 NA18982.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0055 a0001c0001t0008g0057 a0001c0001t0008g0055 a0001c0001t0008g0057	2	298	0.0067	-362	c.177 others(19): Show c.1774-1494_1774-1133del	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
DDX51_chr12_132131594_132149319	132148957	ACTCCTAC others(355): Show ACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCT ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCGCTCACACCAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG01993.hp1 HG02970.hp2 HG00408.hp2 HG01993.hp1 HG02970.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0029 a0008c0010 a0001c0001 a0001c0029 a0008c0010	a0001c0001t0001 a0001c0029t0001 a0008c0010t0012 a0001c0001t0001 a0001c0029t0001 a0008c0010t0012	a0001c0001t0001g0001 a0001c0029t0001g0072 a0008c0010t0012g0015 a0001c0001t0001g0001 a0001c0029t0001g0072 a0008c0010t0012g0015	3	334	0.0090	-362	c.-50 others(11): Show c.-5023_-4662del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4639		chr12	TogoVar
DPP6_chr7_154047398_154899285	154657127	GGTGGGTG others(355): Show GGTGGGTGGAGAGGCTGCGTGGGAGGAGATGCTCGAGTGGGTGGAGAGGC TGCGTGGGAGGAGGTGCTCATGGGTGGGTGGAGAGGCTGCGTGGGAGGAG GTGCTCATGGGTGGGTGGAGAGGCTGCGTGGGAGGAGATGCTCGAGTGGG TGGAGAGGCTGCGTGGGAGGAGGTGCTCATGGGTGGGTGGAGAGGCTGCG TGGGAGGAGGTGCTCATGGGTGGGTGGAGAGGCTGCGTGGGAGGAGATGC TCGAGTGGGTGGAGAGGCTGCGTTGGAGGAGGTGCTCATGGGTGGGTGGA GAGGCTGCGTGGGAGGAGGTGCTCATGGGTGGGTGGAGAGGCTGCGTGGG AGGAGATGCTCGA	G G	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0021 a0002c0012t0021	a0002c0012t0021g0035 a0002c0012t0021g0035	1	38	0.0263	-362	c.681 others(19): Show c.681-12205_681-11844del	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	6/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC3L4_chr14_103089725_103115559	103109275	TCCCCATG others(355): Show TCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCC CTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTC TCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCC ATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTC CCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACC CTGTCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTC TCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCC CTCTCCACCCTGC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0007 a0007	a0007c0018 a0007c0018	a0007c0018t0001 a0007c0018t0001	a0007c0018t0001g0346 a0007c0018t0001g0346	1	404	0.0025	-362	c.197 others(17): Show c.1977-739_1977-378del	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
EXOC3L4_chr14_103089725_103115559	103109326	TCCTCCCT others(355): Show TCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCT CCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCA TGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCC CTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCC TGTCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCT CCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCC TCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCC CCATGTCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02040.hp1 HG02056.hp2 others(16): Show HG01074.hp1 HG02040.hp1 HG02056.hp2 HG02109.hp2 HG02257.hp2 HG02717.hp2 HG02976.hp2 HG03195.hp1 HG03834.hp1 HG04228.hp1 NA18945.hp2 NA18952.hp2 NA18960.hp2 NA18975.hp1 NA18990.hp1 NA19057.hp1 NA19067.hp1 NA19088.hp2 NA20905.hp2	a0002 a0003 a0004 others(5): Show a0002 a0003 a0004 a0005 a0010 a0015 a0016 a0027	a0002c0032 a0003c0001 a0004c0002 others(6): Show a0002c0032 a0003c0001 a0004c0002 a0005c0004 a0005c0008 a0010c0017 a0015c0021 a0016c0022 a0027c0056	a0002c0032t0001 a0003c0001t0001 a0004c0002t0003 others(8): Show a0002c0032t0001 a0003c0001t0001 a0004c0002t0003 a0005c0004t0001 a0005c0004t0002 a0005c0008t0001 a0005c0008t0004 a0010c0017t0001 a0015c0021t0001 a0016c0022t0001 a0027c0056t0001	a0002c0032t0001g0032 a0003c0001t0001g0138 a0004c0002t0003g0071 others(11): Show a0002c0032t0001g0032 a0003c0001t0001g0138 a0004c0002t0003g0071 a0005c0004t0001g0211 a0005c0004t0001g0228 a0005c0004t0001g0236 a0005c0004t0002g0208 a0005c0004t0002g0224 a0005c0008t0001g0038 a0005c0008t0004g0009 a0010c0017t0001g0020 a0015c0021t0001g0006 a0016c0022t0001g0343 a0027c0056t0001g0207	19	404	0.0470	-362	c.197 others(17): Show c.1977-683_1977-322del	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
FER_chr5_108742897_109201841	108969821	TAAATAAA others(355): Show TAAATAAAGTATAGATATCCAAATACATGGAAAAAGTTGGAAGGCTATAT TCCAGGATATTAATTATGATTACCTTAGAGTGGAGTAGTAATGGGTGATT TGGGGCAGTTTAAAAACGTTTTTCATTGAACATGTTACTATGTTTGTAAT ATGAACATTTTCTAAAATTATATTACATGCTAATGTTTTGTAGAACACTA TAGAGCAATGTTTTAAAAACTATTTTTCCCATAATTTATATGAAGAAATC GCATTGTAGTTTAAGACTCAGGACACACAAACTTGAGAGTATTGATATTT ATGTGTGTGCGTAACTAAAACAAGTTTTCCAAACACTGTTTTATGCTTCC TAAATGAGCTGCA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0002 a0003c0009t0002	a0003c0009t0002g0057 a0003c0009t0002g0057	1	138	0.0073	-362	c.165 others(21): Show c.1656+10475_1656+10836del	FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	13/19			chr5	TogoVar
FNDC11_chr20_63549159_63561695	63559425	GGTCAGGT others(355): Show GGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGTCAGTCAGGGTCAGGTG GGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGATGGGAGTCAGTC AGAGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGT GGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGATGGGAGTCAGT CAGAGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGG TCGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGTCAGTCA GGGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGATG GGAGTCAGTCAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	416	0.0024	-362	c.28 others(11): Show c.2806_*3167del	FNDC11	ENSG00000125531.7	transcript	ENST00000370097.2	protein_coding		2731		chr20	TogoVar
HELZ2_chr20_63553086_63579239	63559425	GGTCAGGT others(355): Show GGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGTCAGTCAGGGTCAGGTG GGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGATGGGAGTCAGTC AGAGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGT GGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGATGGGAGTCAGT CAGAGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGG TCGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGTCAGTCA GGGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGATG GGAGTCAGTCAGA	G G	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0053 a0053	a0053c0075 a0053c0075	a0053c0075t0012 a0053c0075t0012	a0053c0075t0012g0344 a0053c0075t0012g0344	1	390	0.0026	-362	c.782 others(16): Show c.7825+141_7826-56del	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	19/19			chr20	TogoVar
JARID2_chr6_15241069_15527042	15283071	CGGGTTCT others(355): Show CGGGTTCTTGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACGG GGTTTCACCGTGTTAGCCAGGACGGTCTCGATCTGCCGACCTTGTGATCT GCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCG CCCGGCCGTTCTGGTATTTATTGAATATGTCGCAAATATTGTCTCCTAGT CTGTCCTTTGTCCTTTAAGTATTTTTTTTTTTTTTTTTGAGATGGAGTCT CACTCTGTGGCTCAGGCTGGAGCACAATAGCGTGATCGCGGCTTACTGCA AGCTCCACCTCCT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0016 a0001c0006t0016	a0001c0006t0016g0053 a0001c0006t0016g0053	1	284	0.0035	-362	c.45+ others(17): Show c.45+36494_45+36855del	JARID2	ENSG00000008083.14	transcript	ENST00000341776.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
JARID2_chr6_15241069_15527042	15283078	TTGCCATT others(355): Show TTGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCC GCCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACGGGGTTTCA CCGTGTTAGCCAGGACGGTCTCGATCTGCCGACCTTGTGATCTGCCCACC TTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCC GTTCTGGTATTTATTGAATATGTCGCAAATATTGTCTCCTAGTCTGTCCT TTGTCCTTTAAGTATTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTG TGGCTCAGGCTGGAGCACAATAGCGTGATCGCGGCTTACTGCAAGCTCCA CCTCCTGGGTTCA	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02976.hp2 HG03098.hp2 HG02615.hp2 HG02976.hp2 HG03098.hp2	a0001 a0008 a0001 a0008	a0001c0006 a0008c0012 a0001c0006 a0008c0012	a0001c0006t0002 a0001c0006t0019 a0008c0012t0016 a0001c0006t0002 a0001c0006t0019 a0008c0012t0016	a0001c0006t0002g0094 a0001c0006t0019g0115 a0008c0012t0016g0116 a0001c0006t0002g0094 a0001c0006t0019g0115 a0008c0012t0016g0116	3	284	0.0106	-362	c.45+ others(17): Show c.45+36540_45+36901del	JARID2	ENSG00000008083.14	transcript	ENST00000341776.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
LYRM4_chr6_5103419_5265950	5205176	CAATAAAG others(355): Show CAATAAAGTGTGTTGTTGGTCCAGAGAACAATGAGATTGCAGCAGGAAGA AAGGGGCAGGAAGGTCACTGAAGGCCTTCCCTAGGGGAGGAGGTGAATGC AGACACAAGTGCACTGGGTGTGCTGTGTGCCTCGTGCTGTGCTAGGTCCC AAGGACATGGAAGGCCCAGCCCTCCGGCATCCTGCAATCTGGCTGGAGAG AGACTCATGGTTACAAATCAACTGGAATACTGCAGAGGCTGGCCATAAAA TACGACTATCGGGGGACAGGCTGAACACAGTACAGAAATAGACAGGAGCA AGCCATTTTCCGAGTGGTTCCCTGAACTGCCAGGGAGAGAAAAAAGTATG GTCAATGTCTTAT	C C	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG04204.hp2 HG03834.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0169 a0001c0001t0002g0170	2	286	0.0070	-362	c.207 others(19): Show c.207+11080_207+11441del	LYRM4	ENSG00000214113.11	transcript	ENST00000330636.9	protein_coding	2/2			chr6	TogoVar
NSUN6_chr10_18540561_18656587	18561028	AGAATGGA others(355): Show AGAATGGAATGGAATGCAGAATGGAATGGAGGATGGTATAGAAAATGGAA TGGAATGGAGAATGGAATGGAATGGAAAAAGGAATAGAATATAGAATGCA ATGGAGAATGGAATGTAGAATAGAATGGAATGGAATACAGTGATAAATAG GCTAGAAGGGAGAATGGAATAGAATGAAATGAAATGGAATGGAGGATGGA ATGGAGAATGGAATGGAATGCAGTGGTGAACAGAATGGAATGGAATGGAG GATGGTATGGAAAATGGAATGGAATGGAGAATGGAATGGAATGGAGAATG GAATAGAATATGGAATAGAATGGAGAACGGAATGGAGAATACAATGGAAT GGAATGCAGTGGT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00423.hp1 others(246): Show HG00099.hp2 HG00140.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19064.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0006 a0007 a0008	a0001c0001 a0002c0002 a0005c0008 others(3): Show a0001c0001 a0002c0002 a0005c0008 a0006c0007 a0007c0006 a0008c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 a0002c0002t0006 a0005c0008t0006 a0006c0007t0001 a0007c0006t0019 a0008c0005t0010	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(243): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0296 a0001c0001t0002g0314 a0001c0001t0004g0200 a0001c0001t0004g0201 a0001c0001t0004g0215 a0001c0001t0004g0236 a0001c0001t0004g0254 a0001c0001t0004g0292 a0001c0001t0006g0315 a0001c0001t0006g0316 a0001c0001t0006g0318 a0001c0001t0006g0319 a0001c0001t0006g0320 a0001c0001t0006g0321 a0001c0001t0006g0322 a0001c0001t0006g0324 a0001c0001t0006g0325 a0001c0001t0008g0071 a0001c0001t0008g0102 a0001c0001t0008g0103 a0001c0001t0008g0117 a0001c0001t0008g0125 a0001c0001t0008g0132 a0001c0001t0010g0019 a0001c0001t0010g0030 a0001c0001t0010g0054 a0001c0001t0010g0058 a0001c0001t0011g0293 a0001c0001t0011g0294 a0001c0001t0012g0220 a0001c0001t0012g0253 a0001c0001t0012g0263 a0001c0001t0012g0295 a0001c0001t0013g0207 a0001c0001t0013g0218 a0001c0001t0013g0256 a0001c0001t0014g0252 a0001c0001t0014g0267 a0001c0001t0015g0317 a0001c0001t0016g0338 a0001c0001t0016g0339 a0001c0001t0017g0007 a0001c0001t0018g0123 a0001c0001t0022g0340 a0002c0002t0006g0327 a0002c0002t0006g0328 a0002c0002t0006g0329 a0005c0008t0006g0323 a0006c0007t0001g0089 a0007c0006t0019g0043 a0008c0005t0010g0081	249	346	0.7197	-362	c.923 others(17): Show c.923-9419_923-9058del	NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	8/10			chr10	TogoVar
PRKCZ_chr1_2045411_2190395	2123191	GGTGGTGG others(355): Show GGTGGTGGTTAGGGTCACGGTGGTAGGGTCGTGGTGGTTAGGGTCGTGGC GGTGGTTAGGTTCATGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCACGG TGGTAGTTAGGGTCACGGTGGTGGTTAGGGTCATGGTGGTGGTTAGGGTC ACGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGT GGCGGTGGTTAGGGTCACGGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCG TGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTG GTGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGT GGTGGTTAGGGTT	G G	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18997.hp1 HG02056.hp2 NA18997.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0143 a0001c0002t0004g0144 a0001c0002t0001g0143 a0001c0002t0004g0144	2	286	0.0070	-362	c.335 others(19): Show c.335-12045_335-11684del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
TUBGCP2_chr10_133273635_133313872	133291898	CGTCCGTG others(355): Show CGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCC TCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCA CGCACCCTCCGTGTCCCCCATGTCCCTCTGTGTCCCTCCGTGTCCCTCCG TGTCCCCCATGTCCCTCCGTGTCCCCCGTGTCCCTCCGTGTCCCTCCGTG TCCCTCCGTGTCCCCCATGTCCCCCATGTCCCCGTGTCCCGGGGAGCCCT ACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCGTGTCCCTC CGTGTCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAG GGCAGCATGCACA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	284	0.0035	-362	c.121 others(17): Show c.1214+239_1214+600del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
USP40_chr2_233470526_233571782	233567482	CTATATAA others(355): Show CTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATTAT AGCTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATT ATAGCTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGA TTATAGCTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAA GATTATAGCTATATAACCTTATATAAGATTATAGTTATATAACCTTATAT AAGATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTAT ATAAGATTAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTAT ATAAGATTATAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG03209.hp2 HG03579.hp1 HG02257.hp1 HG03209.hp2 HG03579.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0010 a0002c0009t0010	a0002c0009t0010g0129 a0002c0009t0010g0130 a0002c0009t0010g0132 a0002c0009t0010g0129 a0002c0009t0010g0130 a0002c0009t0010g0132	3	324	0.0093	-362	c.-11 others(10): Show c.-1180_-819del	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding		701		chr2	TogoVar
USP40_chr2_233470526_233571782	233567508	CTATATAA others(355): Show CTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATTAT AGCTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATT ATAGCTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGA TTATAGCTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAA GATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATAT AAGATTATAGTTATATAACCTTATATAAGATTAGTTATATAACCTTATAT AAGATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTAT ATAAGATTATAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0010 a0002c0009t0010	a0002c0009t0010g0131 a0002c0009t0010g0131	1	324	0.0031	-362	c.-12 others(10): Show c.-1206_-845del	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding		727		chr2	TogoVar
USP40_chr2_233470526_233571782	233567534	CTATATAA others(355): Show CTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATTAT AGCTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATT ATAGCTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGA TTATAGCTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAA GATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATAT AAGATTAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATAT AAGATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTAT ATAAGATTATAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0181 a0002c0002t0012g0181	1	324	0.0031	-362	c.-12 others(10): Show c.-1232_-871del	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding		753		chr2	TogoVar
USP40_chr2_233470526_233571782	233567560	CTATATAA others(355): Show CTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATTAT AGCTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATT ATAGCTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGA TTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAA GATTATAGTTATATAACCTTATATAAGATTAGTTATATAACCTTATATAA GATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATAT AAGATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTAT ATAAGATTATAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0171 a0003c0003t0002g0171	1	324	0.0031	-362	c.-12 others(10): Show c.-1258_-897del	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding		779		chr2	TogoVar
USP40_chr2_233470526_233571782	233567690	CTATATAA others(355): Show CTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGATTAT AGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGATT AGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGATT ATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGA TTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAA GATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATAT AAGATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTAT ATAAGATTATAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 NA20129.hp2 HG02965.hp1 NA20129.hp2	a0004 a0009 a0004 a0009	a0004c0004 a0009c0012 a0004c0004 a0009c0012	a0004c0004t0008 a0009c0012t0008 a0004c0004t0008 a0009c0012t0008	a0004c0004t0008g0076 a0009c0012t0008g0079 a0004c0004t0008g0076 a0009c0012t0008g0079	2	324	0.0062	-362	c.-13 others(11): Show c.-1388_-1027del	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding		909		chr2	TogoVar
USP40_chr2_233470526_233571782	233567764	ATAGTTAT others(355): Show ATAGTTATATAACCTTATATAAGATTAGTTATATAACCTTATATAAGATT ATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGA TTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAA GATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATAT AAGATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTAT ATAAGATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTT ATATAAGATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACC TTATATAAGATTA	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0008 a0009c0012t0008	a0009c0012t0008g0046 a0009c0012t0008g0046	1	324	0.0031	-362	c.-14 others(11): Show c.-1462_-1101del	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding		983		chr2	TogoVar
AGMO_chr7_15195317_15567015	15406570	ACACACAC others(354): Show ACACACACACACACACACACGTATATTCCATATAAGTACACATGTACACA TGTGTGTATATATATGAATATACATATATATGTGTATATATATGGAATAT ACATATATATGTGTATATATATGGAATATACATATATATGTGTATATATA TGTATATACACACATACATATGAATATACATATATATGTATTCCATATGT GTATATATACACATATATACATATATGCGTGCATATGTACACATATATAC CCACGTATACACATATATGTATATGTATATGTGATCCTAAAATTGTTAGT GACAACGGTGCCAGTTCAGGTCAGAAGACTCAAAAGGCCCCTTTGTTTGG AATACACACGCG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	1	236	0.0042	-361	c.609 others(19): Show c.609+11627_609+11987del	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	5/12			chr7	TogoVar
ARHGAP39_chr8_144524179_144690846	144531294	AAGGGCAC others(354): Show AAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAG GCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGA GTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGC AGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCA GGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGG CACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACG GCAGAAGGGCAC	A A	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	246	0.0041	-361	c.298 others(17): Show c.2980+650_2981-424del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11			chr8	TogoVar
ATP11A_chr13_112685038_112892168	112803952	TCCTCCTT others(354): Show TCCTCCTTTCTTCCCTTCCTTCCCTCATTCCCCTCATTCCCCTCCTTCCC TCCTTCACCTCCCTCCCTGCCATCCCCTCTCTGCCCTCCTTCCCTCCTTT TCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCT TCCCCTCCTTTTCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCT CCTTCCCTCCTTCACCTCCCTCCCTGCCATCCCCTCTCTGCCCTCCTTCC CCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTT CCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCC TTTTCCTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03831.hp2 HG03710.hp1 HG03831.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0003 a0001c0004 a0002c0003	a0001c0004t0001 a0002c0003t0002 a0001c0004t0001 a0002c0003t0002	a0001c0004t0001g0224 a0002c0003t0002g0248 a0001c0004t0001g0224 a0002c0003t0002g0248	2	254	0.0079	-361	c.163 others(15): Show c.163-997_163-637del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
C8orf82_chr8_144520733_144534111	144531294	AAGGGCAC others(354): Show AAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAG GCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGA GTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGC AGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCA GGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGG CACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACG GCAGAAGGGCAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0009 a0001c0002t0002g0009	1	398	0.0025	-361	c.-27 others(11): Show c.-2739_-2379del	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2184		chr8	TogoVar
CBFA2T3_chr16_88869858_88982207	88955330	GCCCAAGG others(354): Show GCCCAAGGCTCCTGACCTCACCCAAGGCTCCTGACTCCACCCAAGGCTCC TGACCTCAGCCAAGGCTCCTGACCCTACCCAAGGCTCCTGACCCCACCCA AGGCTCCTGACCTCAGCCAAGACTCCTGACCCCACCCAAGGCTCCTGACC CCACCCAAGGCTCCTGACCCCAGCCAAGGCTCCTGACCCCACCCAAGGCT CCTGACCCCACCCAAGGCTCCTGACCCCAGCCAAGGCTCCTGACCCCACC CAAGGCTCCTGACCCCACCCAAGGCTCCTGACCCCACCCAAGGCTCCTGA CCCTACCCAAGGCTCCTGACCCCACCCAAGGCTCCTGACCTCACCCAAGG CTCCTGACCCCA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0011 a0001c0001t0001 a0001c0001t0002 a0001c0003t0011	a0001c0001t0001g0110 a0001c0001t0002g0265 a0001c0003t0011g0007 a0001c0001t0001g0110 a0001c0001t0002g0265 a0001c0003t0011g0007	3	284	0.0106	-361	c.151 others(19): Show c.151+20966_151+21326del	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
COLQ_chr3_15445133_15526706	15524972	ACGGCAGA others(354): Show ACGGCAGAAAACAGGAGAAAATCTTAGTGACCCTGGGTTAGGTACAGATT TTTTAAATAAGATGCAAAATACAAATCTTAAATTTAAAAAAGTTAAATTG GACATTATAAAAACTTTAATGCTTCTGCTCTTCAAAATAGAATACTAAAT TGGAAAGCCAAGCCAAAAACTAGGACGTAATATTTGCCAAACACATATAT GATAAATGATTTGTAGCTAGAATATATTAAAACTTTCACAGCTCAATAAT AATAAGATAAAAAACTTAATTAAAAGAAATGGCAGGCCAGACATGGCTCA CACCTGTAATCTCAGCACCCTGGGAAGCCAAGGTGGGTGGATTACCTGAG GCCAGGAGTTTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0048 a0001c0001t0003g0048	1	382	0.0026	-361	c.-37 others(11): Show c.-3708_-3348del	COLQ	ENSG00000206561.14	transcript	ENST00000383788.10	protein_coding		3267		chr3	TogoVar
CPN2_chr3_194334768_194356328	194347626	CCAGCCCA others(354): Show CCAGCCCACCCCACCCTCTGCCCAGTTCAGCCCACCCCATCCGCTGCCCA GTTCAGCCCACCCCACCCTCTGCCCAGTTCAGCCCACCCCATCTGCTGCC CTGGCCAGCCCACCCCACCCTCTGCCCAGTTCAGCCCACCCCACCCTCTG CCCAGTTCAGCCCACCCCATCCGCTGCCCAGTTCAGCCCACCCCATCCTC TGCCCAGTTCAGCCCACACCACCCACTGCCCAGTTCATCCCACCCCATCC GCTGCCCAGTTCAGCCCACCCCATCCTCTGCCCAGTTCAGCCCACACCAC CCGCTGCCCAGTTCAGCCCACCACCCCCGCCCAGTTCAGCCCACCCCATC CTCTGCCTAGTT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01358.hp1 HG01891.hp1 others(24): Show HG01123.hp2 HG01358.hp1 HG01891.hp1 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG02258.hp2 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG02976.hp2 HG03098.hp1 HG03139.hp1 HG03225.hp2 HG03453.hp1 HG03516.hp2 HG03579.hp2 NA20300.hp1	a0001 a0003 a0005 others(5): Show a0001 a0003 a0005 a0006 a0008 a0011 a0016 a0018	a0001c0001 a0003c0004 a0003c0005 others(6): Show a0001c0001 a0003c0004 a0003c0005 a0005c0006 a0006c0007 a0008c0010 a0011c0029 a0016c0019 a0018c0024	a0001c0001t0001 a0003c0004t0004 a0003c0005t0006 others(7): Show a0001c0001t0001 a0003c0004t0004 a0003c0005t0006 a0005c0006t0001 a0006c0007t0001 a0006c0007t0015 a0008c0010t0001 a0011c0029t0001 a0016c0019t0020 a0018c0024t0001	a0001c0001t0001g0103 a0001c0001t0001g0110 a0003c0004t0004g0034 others(18): Show a0001c0001t0001g0103 a0001c0001t0001g0110 a0003c0004t0004g0034 a0003c0004t0004g0044 a0003c0004t0004g0045 a0003c0004t0004g0072 a0003c0004t0004g0104 a0003c0005t0006g0109 a0005c0006t0001g0074 a0005c0006t0001g0108 a0005c0006t0001g0111 a0005c0006t0001g0112 a0006c0007t0001g0026 a0006c0007t0001g0064 a0006c0007t0001g0105 a0006c0007t0015g0062 a0006c0007t0015g0063 a0008c0010t0001g0043 a0011c0029t0001g0126 a0016c0019t0020g0102 a0018c0024t0001g0113	27	440	0.0614	-361	c.-4+ others(15): Show c.-4+3255_-4+3615del	CPN2	ENSG00000178772.7	transcript	ENST00000323830.4	protein_coding	1/1			chr3	TogoVar
DHRSX_chrX_2214506_2505976	2281496	GAGAGAGA others(354): Show GAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGG AGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGG AGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGA GGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGG GGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAA TGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGG GAGGGCAAACGAGAGAGGGAGAGAGAAGGAGGAGAGGGAGGAAATAGGGG AAAGAGAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	50	0.0200	-361	c.388 others(18): Show c.388+9645_388+10005del	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6			chrX	TogoVar
DLGAP2_chr8_732628_1713476	1470938	CTTTCCCG others(354): Show CTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAGGCTTTCCCGACCC CTCCAGCCTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAGGCTTTC CCGACCCCTCCAGCCTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCA GCCTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAGGCTTTCCCGAC CCCTCCAGCCTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAGGCTT TCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTC CAGCCTTTCCCGACCCCTCCAGGCTTTCCCGACCCCTCCAGCCTTTCCCG ACCCCTCCAGCT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02895.hp1 HG02922.hp1 HG01496.hp2 HG02895.hp1 HG02922.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0003c0005 a0001c0003 a0003c0005	a0001c0003t0001 a0003c0005t0002 a0003c0005t0004 a0001c0003t0001 a0003c0005t0002 a0003c0005t0004	a0001c0003t0001g0027 a0003c0005t0002g0031 a0003c0005t0004g0037 a0001c0003t0001g0027 a0003c0005t0002g0031 a0003c0005t0004g0037	3	40	0.0750	-361	c.107 others(19): Show c.107-30391_107-30031del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
EXOC3L4_chr14_103089725_103115559	103109290	CCCTCCCT others(354): Show CCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCT CCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCA TGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCC CTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCC TGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGTCCCCATGTCTC CCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCC TCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCC CCATGTCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG01070.hp1 others(30): Show HG00140.hp2 HG00423.hp2 HG01070.hp1 HG01071.hp2 HG01168.hp2 HG01169.hp1 HG01257.hp1 HG01433.hp2 HG01884.hp2 HG01928.hp1 HG01934.hp2 HG01975.hp1 HG01981.hp2 HG02040.hp2 HG02071.hp2 HG02145.hp1 HG02683.hp1 HG02738.hp2 HG03654.hp1 HG03704.hp2 HG03710.hp2 HG04115.hp1 HG04184.hp1 NA18612.hp1 NA18747.hp2 NA18957.hp2 NA18972.hp1 NA18983.hp2 NA18990.hp2 NA19004.hp2 NA19055.hp2 NA19070.hp2 NA19080.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0006 a0040	a0001c0003 a0003c0001 a0004c0002 others(2): Show a0001c0003 a0003c0001 a0004c0002 a0006c0009 a0040c0074	a0001c0003t0002 a0003c0001t0001 a0003c0001t0002 others(4): Show a0001c0003t0002 a0003c0001t0001 a0003c0001t0002 a0003c0001t0003 a0004c0002t0001 a0006c0009t0001 a0040c0074t0001	a0001c0003t0002g0028 a0001c0003t0002g0270 a0003c0001t0001g0004 others(25): Show a0001c0003t0002g0028 a0001c0003t0002g0270 a0003c0001t0001g0004 a0003c0001t0001g0112 a0003c0001t0001g0115 a0003c0001t0001g0117 a0003c0001t0001g0119 a0003c0001t0001g0124 a0003c0001t0001g0125 a0003c0001t0001g0135 a0003c0001t0001g0143 a0003c0001t0001g0145 a0003c0001t0001g0152 a0003c0001t0001g0170 a0003c0001t0001g0179 a0003c0001t0001g0327 a0003c0001t0001g0329 a0003c0001t0001g0331 a0003c0001t0002g0150 a0003c0001t0003g0140 a0003c0001t0003g0141 a0004c0002t0001g0089 a0006c0009t0001g0017 a0006c0009t0001g0018 a0006c0009t0001g0116 a0006c0009t0001g0153 a0006c0009t0001g0162 a0040c0074t0001g0183	33	404	0.0817	-361	c.197 others(17): Show c.1977-702_1977-342del	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
FAM171B_chr2_186689060_186770959	186691627	AATGATGT others(354): Show AATGATGTTTAGTGTGAGGGGCCTCACTTTAGTATCTATTTTCCCCAAAA TTATGTGGTCCACATACCTTATTTTTGTTTTAAAATCACTAAAAAAGCAA TACAAACTCATAGCAGAAGTCTCAAACGGTGCAGAAAGGTAAAGTCACAC ACTGTAAATGTAGCCTCTGGCAAGACATGGAGCCTCTCTGATCTCCAGTG TTTCCATTTGCTAAATAGGATAATGAGAGCTAATTTGTAGAGATGCTCTG AAGATATAATGAGATAATAGATGCAAAATACCTACTGTTATTTTATTTAT GGTTATTGTGTCAGTCCATTTGCATTGCAGTAAACTTCGGGTGACATAAA GAAAAGCGGTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG03130.hp1 HG03195.hp2 others(1): Show HG02922.hp1 HG03130.hp1 HG03195.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0018 a0001c0002t0008 a0001c0002t0018	a0001c0002t0008g0188 a0001c0002t0008g0194 a0001c0002t0008g0195 others(1): Show a0001c0002t0008g0188 a0001c0002t0008g0194 a0001c0002t0008g0195 a0001c0002t0018g0209	4	332	0.0121	-361	c.-25 others(11): Show c.-2546_-2186del	FAM171B	ENSG00000144369.14	transcript	ENST00000304698.10	protein_coding		2432		chr2	TogoVar
IQSEC1_chr3_12892043_13078429	12923016	CTCCACAT others(354): Show CTCCACATGGGGGCGATGCAGCTGCTCCCACCCTCCTCTGAGCGCTCAAG GCCTCCTGGGGCAACAGCCTTGGAGGTGACTTCGGAGCAGTGGGGAGAGG GCAAGCAGGGAGCAGGCAGAGGATTTGCTGAGCAGCAGGAGCAGCGGCCC TGCAGATGCCTGGTGTGGTGGCCCGGGGGAGCCAGCCACTTCCTGAGGCC ACTGCTATTTTCTGACCTGAGGAAAACAATGTGCGGATTTCCTAAGGACC AGGGACCGGCTTGGAGTGGGGAGTCGGGGCAGCATAGGAATGGCTGCAGG GGATGGGGGTGGGAGCTGGGCATTTACCAAGGAGCTCATGGGCTTTCCCC TGGACCTTTCCT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0202 a0001c0001t0008g0202	1	250	0.0040	-361	c.173 others(18): Show c.1731-1135_1731-775del	IQSEC1	ENSG00000144711.17	transcript	ENST00000613206.2	protein_coding	4/13			chr3	TogoVar
LRRC24_chr8_144517388_144532033	144531294	AAGGGCAC others(354): Show AAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAG GCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGA GTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGC AGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCA GGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGG CACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACG GCAGAAGGGCAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	398	0.0025	-361	c.-47 others(11): Show c.-4755_-4395del	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4262		chr8	TogoVar
MELTF_chr3_196996740_197034817	197032634	TGGGGTGT others(354): Show TGGGGTGTGAGCACCTGAAGTAGTGTGATGTCAGAGGATGTTACACTCTT GCTGATGGGTTGGGGTGTGAGCACCTGCAGTCGTGTGATGTCAGAAGATT TTACACTCTTGCTGACTGGTTGGGGTGTCAGCACCTGCAGTAGTGTGATG TCAGAGGATGTTACACTCTTGCTGACTGGTTGGGACATGAGCACCTGCAG TAGTGTGATGTCAGAGGATGTTACACTCTTGCTGATGGGTTGGGTGTGAG CACCTGAAGTAGTGTGATGTCAGAAGATTTTACACTCTTGCTGACTGGTT GGGGTGTGAGCACCTGCAGTAGTGTGATGTCAGAGGATGTTACCTCTCTT GCTGACTGGTTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG02897.hp2 HG03041.hp2 others(8): Show HG01934.hp2 HG02897.hp2 HG03041.hp2 HG03516.hp2 HG03669.hp2 HG03831.hp2 NA18964.hp2 NA18970.hp2 NA19068.hp2 NA19074.hp2 NA19083.hp2	a0001 a0019 a0001 a0019	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0022 a0019c0021	a0001c0001t0008 a0001c0002t0001 a0001c0002t0009 others(4): Show a0001c0001t0008 a0001c0002t0001 a0001c0002t0009 a0001c0003t0005 a0001c0003t0013 a0001c0022t0003 a0019c0021t0045	a0001c0001t0008g0131 a0001c0002t0001g0119 a0001c0002t0009g0033 others(7): Show a0001c0001t0008g0131 a0001c0002t0001g0119 a0001c0002t0009g0033 a0001c0002t0009g0034 a0001c0002t0009g0035 a0001c0003t0005g0095 a0001c0003t0013g0030 a0001c0003t0013g0094 a0001c0022t0003g0091 a0019c0021t0045g0122	11	420	0.0262	-361	c.-32 others(11): Show c.-3293_-2933del	MELTF	ENSG00000163975.14	transcript	ENST00000296350.10	protein_coding		2818		chr3	TogoVar
MELTF_chr3_196996740_197034817	197033112	GTTACTGT others(354): Show GTTACTGTGTGAGCACCTGCTGTAGTGTGATGTCAGAGGATGTTACACTC TTGCTGACGGGTTGGGGTGTCAGCATCTGCAGTAGTGTGATGTCAGAGGA TGTTACCCTCTTGCTGACTTGTTGGGGTGTGAGCACCTGCAGTAGTGTGA TGTCAGAGGATGTTACACTCTTGCTGATGGGTTGGGGTGTGAGCATCTGC AGTAGTGTGATGTCACAGGATGTTACGCTCTTGCTGACTGGTTGGGACGT TAGCACCTGCAGTAGTGTGATGTCACAGGATGTTACACTCTTGCTGACTG GTTGGGGTGTGAGCACCTGCAGTAGTGTGATGTCAGAGGATGTTACACTC TTGCTGACTGGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG02897.hp2 HG03041.hp2 others(8): Show HG01934.hp2 HG02897.hp2 HG03041.hp2 HG03516.hp2 HG03669.hp2 HG03831.hp2 NA18964.hp2 NA18970.hp2 NA19068.hp2 NA19074.hp2 NA19083.hp2	a0001 a0019 a0001 a0019	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0022 a0019c0021	a0001c0001t0008 a0001c0002t0001 a0001c0002t0009 others(4): Show a0001c0001t0008 a0001c0002t0001 a0001c0002t0009 a0001c0003t0005 a0001c0003t0013 a0001c0022t0003 a0019c0021t0045	a0001c0001t0008g0131 a0001c0002t0001g0119 a0001c0002t0009g0033 others(7): Show a0001c0001t0008g0131 a0001c0002t0001g0119 a0001c0002t0009g0033 a0001c0002t0009g0034 a0001c0002t0009g0035 a0001c0003t0005g0095 a0001c0003t0013g0030 a0001c0003t0013g0094 a0001c0022t0003g0091 a0019c0021t0045g0122	11	420	0.0262	-361	c.-37 others(11): Show c.-3771_-3411del	MELTF	ENSG00000163975.14	transcript	ENST00000296350.10	protein_coding		3296		chr3	TogoVar
MOV10L1_chr22_50085006_50166687	50106937	ATGATCCA others(354): Show ATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCATGCCCGGCCAGGACATGGTCTTCTTAAAATACTCCCTGACCTTGA AGTCAGTGCCCTAGCATATTTTAGTGTCTTCTGTTTTCTTTCTTTTCTTT TTTTTTGAGACGGTGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGCG TGATCTCAGCTCACTGCAAACTCCACCTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTACCACCGCTCCCA GCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGAT CTCCTGACCTCG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02809.hp2 HG02486.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0193 a0001c0001t0001g0142 a0001c0001t0001g0193	2	400	0.0050	-361	c.443 others(16): Show c.443-1145_443-785del	MOV10L1	ENSG00000073146.17	transcript	ENST00000262794.10	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr22	TogoVar
NCAPD3_chr11_134145113_134228967	134165993	AGAGCAGC others(354): Show AGAGCAGCACACTCACTTGTGAGATGAGCTTGGGGGAGGCGCACACTCAC TAGTGAGATGAGCTTGGGGGAGCAGCACACTCACTTGTGAGATGAGCTTG GGGGAGGGGCACACTCACTAGTGAGATGAGCTTGGGGGAGGGGCACACTC ACTAGTGAGATGAGCTTGGGGGAGCAGCACACTCACTTGTGAGATGAGCT TGGGGGAGGGGCACAGTGAGATGAGCTTAGGGAGAGCAGCACACTCACTT GTGAGATGAGCTTGGGGGAGGCGCACACTCGTGAGATGAGCTTAGGGGAG CTGCACACTCACTAGTGAGATGAGCTTGGAGAGGCACACTCACTAGTGAG ATGAGCTTGGGG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00544.hp1 others(64): Show HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG01978.hp2 HG02015.hp1 HG02056.hp2 HG02080.hp2 HG02155.hp2 HG02165.hp1 HG02683.hp2 HG02735.hp1 HG03492.hp1 HG03654.hp1 HG03669.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04228.hp2 NA18522.hp2 NA18612.hp2 NA18944.hp2 NA18946.hp1 NA18947.hp2 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18955.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18962.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp2 NA18971.hp1 NA18972.hp2 NA18980.hp1 NA18982.hp2 NA18984.hp2 NA18985.hp1 NA18987.hp2 NA18988.hp1 NA18989.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA19004.hp2 NA19011.hp2 NA19012.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19078.hp2 NA19083.hp2 NA19084.hp1 NA19086.hp1 NA19088.hp1 NA19091.hp2	a0001 a0014 a0015 a0001 a0014 a0015	a0001c0001 a0001c0022 a0014c0018 others(1): Show a0001c0001 a0001c0022 a0014c0018 a0015c0026	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 others(9): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0021 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0055 a0001c0001t0057 a0001c0022t0002 a0014c0018t0002 a0015c0026t0045	a0001c0001t0002g0082 a0001c0001t0002g0118 a0001c0001t0002g0119 others(64): Show a0001c0001t0002g0082 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0137 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0163 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0202 a0001c0001t0002g0283 a0001c0001t0003g0126 a0001c0001t0011g0145 a0001c0001t0011g0164 a0001c0001t0011g0173 a0001c0001t0011g0174 a0001c0001t0011g0186 a0001c0001t0011g0268 a0001c0001t0011g0269 a0001c0001t0021g0165 a0001c0001t0021g0169 a0001c0001t0046g0203 a0001c0001t0047g0190 a0001c0001t0048g0142 a0001c0001t0055g0123 a0001c0001t0057g0365 a0001c0022t0002g0170 a0014c0018t0002g0185 a0015c0026t0045g0167	67	370	0.1811	-361	c.357 others(19): Show c.3573+1642_3573+2002del	NCAPD3	ENSG00000151503.14	transcript	ENST00000534548.7	protein_coding	27/34			chr11	TogoVar
PRKAA1_chr5_40754389_40803374	40794513	TGTTTTTA others(354): Show TGTTTTTATTGCATTTGCTTTTGGGTTCTTAGTCATTAAATCCTTGCCTA AGCCAATGTCTAGAAGGGTTTTTCCAATGTTATCTTCTAGAATTTTTATA GTTTCAGGTCTTAGGTTTAAGTCCTTAATCCATCTTGAGTTGATTTTTAT ATAAGGTTGAGAGATGAGAATCCAGTTTCATTCTCCTACATGTGGCTGGC CAATTATCCCAGCACAATTTGTTGAAAAGGGTGAACAGGGAACACTTCTA CACTGCTGGTGGGAATGTAAACTAGCACAGCTGCTATGGAAAACAGTGTA GATATTCCTTAAAGAACTAAAAGTAGAACTACCATTTGATCCAGCAATCT CTTCTGAAAAGA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(106): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00558.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01261.hp2 HG01358.hp1 HG01496.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02027.hp1 HG02148.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02602.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG03017.hp1 HG03195.hp1 HG03239.hp2 HG03471.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG04184.hp2 HG04204.hp2 HG06807.hp2 NA18941.hp1 NA18942.hp2 NA18944.hp1 NA18947.hp1 NA18948.hp1 NA18953.hp1 NA18954.hp1 NA18959.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18972.hp2 NA18973.hp2 NA18981.hp2 NA18983.hp1 NA18984.hp1 NA18987.hp2 NA18989.hp1 NA18998.hp1 NA19007.hp1 NA19011.hp1 NA19055.hp2 NA19056.hp1 NA19060.hp1 NA19063.hp2 NA19066.hp1 NA19070.hp2 NA19074.hp1 NA19076.hp2 NA19089.hp2 NA19091.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0021 a0001c0001t0025	a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0012 others(87): Show a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0030 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0265 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0302 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0009g0163 a0001c0001t0009g0164 a0001c0001t0009g0266 a0001c0001t0010g0301 a0001c0001t0010g0303 a0001c0001t0010g0304 a0001c0001t0011g0173 a0001c0001t0011g0196 a0001c0001t0012g0016 a0001c0001t0021g0175 a0001c0001t0025g0178	109	402	0.2711	-361	c.127 others(17): Show c.127+3189_127+3549del	PRKAA1	ENSG00000132356.12	transcript	ENST00000397128.7	protein_coding	1/8			chr5	TogoVar
RINT1_chr7_105527201_105572677	105549082	GGTTCAAG others(354): Show GGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CACATGTCACCACACTGGACTAATTTTTGTAATTTTAGTAGAGATGGGTT TCACCATATTGGTCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCAC CTGACTTAGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGCGCC TGGCATGTACTTGGTATTTCTGCTCTTAAACCTGTATAAGACATGCGTAG TTTTTGTAATGCAGACTAGCAATTTTTTTTTTTTGGAACGAAGTTTCACT CTTGTTGCCCAGGCTGGAGCGCAATGGTGTGATCTCGGCTCACTGCAACC TCTGCCTCCCGC	G G	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	368	0.0027	-361	c.996 others(15): Show c.996+401_997-584del	RINT1	ENSG00000135249.8	transcript	ENST00000257700.7	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
RPH3AL_chr17_207389_357807	242506	ACCTTCCT others(354): Show ACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGAT TACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGA TTACCCTTCCTCTATTGATTACCTTCCTCTATTGATTACCCTTCCTCTAT TGACTACCTTCCTCTATTGACTACCTTCCTCTATTGATTACCTTCCTCTA TTGATTACCTTCCTCTATTGACTACCTTCCTCTATTGATTACCTTCCTCT ATTGATTACCTTCCTCTATTGACTACCTTCCTCTAATGACTACCTTCCTC TATTGATTACCTTCCTCTATTGATTACCCTTCCTCTATTGATTACCTTCC TCTATTGATTAC	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0095 a0001c0001t0006g0095	1	133	0.0075	-361	c.613 others(17): Show c.613+4244_613+4604del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
SLC43A2_chr17_1564268_1633834	1599210	TGCACCTG others(354): Show TGCACCTGTAGTCCCAGGTACTTGGGAGGCTGAAGCAGGAGGATTGCTTG AACCCAGGGGGCAGAGGTTGCAATGAGCCAAGATCATGCCACTGCACTCC AGCCTGGCGACAGAGTGAGACTCTGTCTCAAAAAAAGAAAAGAAAAGCAT ATCCATTGCAAAATGTTTGGAGCAAAGTATAAAAAGAATAAGGTAAAAAT CACCCTGAGGCCAGACGCAGTGGCTCACATCTATAATCCCAGCACTTTAG GAGGCTGAGGCAGGTGGATCACTTGAGGCCAGCAGTTCAAGACCAGCCTG GCCAACATGGTGAAACCCTGTCTCTACCAAAAATAAAGAAAATTAGCTGG GCGTGGTGGCAG	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0368 a0001c0002t0013g0368	1	382	0.0026	-361	c.502 others(17): Show c.502-6292_502-5932del	SLC43A2	ENSG00000167703.15	transcript	ENST00000301335.10	protein_coding	5/13			chr17	TogoVar

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Search Results (Total: 10000 hits)