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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SLC22A24_chr11_63074940_63149221	63113031	AAAAAATA others(179): Show AAAAAATATATATATATATATATACATATATATATATACATATATATACA CATATATATACATATATATATACATATATATACACATATATATATACATA TATATATACACATATATATATACATATATATATACACATATATATACATA TATATATACACATATATATATACATATATATACACAT	A A	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0014 a0014	a0014c0016 a0014c0016	a0014c0016t0001 a0014c0016t0001	a0014c0016t0001g0086 a0014c0016t0001g0086	1	366	0.0027	-186	c.830 others(17): Show c.830+5695_830+5880del		SLC22A24	ENSG00000197658.9	transcript	ENST00000612278.4	protein_coding	4/9						chr11	TogoVar
SMOC2_chr6_168436184_168672992	168572147	CGTGCTCC others(179): Show CGTGCTCCCTGAACGCGATGTTCATTTCCTCCCCGCATCTCCGGGTGCCG GGACCAGGGCTGCGTGGTCCCTGAACGCGATGTTCACTTCCTCCCCGCAT CCCCGGGTGCCGGGACCAGGGCTGCGTGCTCCCTGAACGCAATGTTCACT TTCTCCCCGCATCCCCGGGTGCCGGGACCAGGGCTGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00423.hp1 others(31): Show HG00099.hp1 HG00280.hp1 HG00423.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00673.hp1 HG00738.hp2 HG01081.hp2 HG01167.hp1 HG01167.hp2 HG01243.hp2 HG02056.hp1 HG02109.hp2 HG02293.hp1 HG02602.hp1 HG02738.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG04184.hp1 HG06807.hp2 NA18906.hp2 NA18943.hp1 NA18971.hp1 NA18973.hp1 NA19030.hp2 NA19065.hp1 NA19080.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0011 a0003c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0002t0002 a0001c0003t0004 a0001c0004t0005 a0001c0005t0001 a0001c0011t0006 a0003c0006t0012	a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0078 others(31): Show a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0105 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0152 a0001c0001t0001g0172 a0001c0001t0003g0086 a0001c0001t0006g0160 a0001c0002t0002g0001 a0001c0002t0002g0022 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0061 a0001c0003t0004g0100 a0001c0003t0004g0101 a0001c0003t0004g0102 a0001c0004t0005g0048 a0001c0005t0001g0126 a0001c0011t0006g0167 a0003c0006t0012g0018	34	180	0.1889	-186	c.637 others(19): Show c.637+22983_637+23168del		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168572925	GCATCCCC others(179): Show GCATCCCCTGGTGCCGGGACCAGGGCTGCGTGCTCCTTGGACGCGATGCT CATTTCCTCCCCACATCCCCGGGTGCTGGGACCAGGGCTGCGTGGTCCCT GAACGCGATGTTCATTTCCTCCCCGCATCCCCGGGTGCGGGGACCAGGGC TGCGTGCTCCTTGGACGCGATGCTCATTTCCTTCCCA	G G	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA18522.hp2 HG03195.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0168 a0001c0002t0002g0038 a0001c0001t0001g0168 a0001c0002t0002g0038	2	180	0.0111	-186	c.637 others(19): Show c.637+23730_637+23915del		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168573205	CTCCTTGG others(179): Show CTCCTTGGACGCGATGCTCATTTCCTTCCCACATCCCCGGGTGCTGGGAC CAGGGCTGCGTGGTCCCTGAATGCGATGTTCACTTCCTCCCCGCATCCCC GGGTGCCGGGACCAGGGCTGCGTGCTCCTTGGACGCGATGCTCATTTCCT TCCCACATCCCCGGGTGCTGGGACCAGGGCTGCGTGG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0130 a0005c0010t0001g0130	1	180	0.0056	-186	c.637 others(19): Show c.637+24006_637+24191del		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
SMYD3_chr1_245744347_246512279	246251417	AGACACTG others(179): Show AGACACTGTGCCCGGCTTTAGTAGGTGCCTCGGACACTGTGCCCGGCTTT AGTAGGTGCCTCGGACACTGTGCCCGGCTTTAGTAGGTGCCGCGGACACT GCGCCCGGCTTTAGTAGGTGCCGCGGACACTGTGCCCGGCTTTAGTAGGT GCCGCGGACACTGTGCCCGGCTTTAGTAGGTGCCGCG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02015.hp2 HG00423.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0061 a0001c0001t0001g0006 a0001c0001t0001g0061	2	150	0.0133	-186	c.531 others(19): Show c.531+75598_531+75783del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	246251688	GGTGCCGC others(179): Show GGTGCCGCGGACACTGTGCCCGGCTTTAGTAGGTGCCTCGGACACTGTGC CCGGCTTTAGTAGGTGCCGCGGACACTGTGCCCGGCTTTAGTAGGTGCCG CGGACACTGTGCCCGGCTTTAGTAGGTGCCGCGGACACTGTGCCCGGCTT TAGTAGGTGCCTCGGACACTGTGCCCGGCTTTAGTAC	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00621.hp1 HG00408.hp2 HG00621.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0015 a0001c0001 a0005c0015	a0001c0001t0001 a0005c0015t0002 a0001c0001t0001 a0005c0015t0002	a0001c0001t0001g0063 a0005c0015t0002g0094 a0001c0001t0001g0063 a0005c0015t0002g0094	2	150	0.0133	-186	c.531 others(19): Show c.531+75327_531+75512del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	246388319	AGGGGACC others(179): Show AGGGGACCTCCTTGTAGAAAGCATTCATTCTTGAAAATCACCTCGAGGTT GAAGTCAGTTTCTGGGGACCTCCTTGTAGAAAGCATTCATTCTTGAAAAT CACCTCGAGGTTGAAGTCAGTTTCTGGGGACCTCCTTGTAGAAAGCATTC ATTCTTGAAAATCACCTCGAGGTTGAAGTCAGTTTCT	A A	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0064 a0001c0002t0001g0064	1	150	0.0067	-186	c.165 others(19): Show c.165-33411_165-33226del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11						chr1	TogoVar
SSH2_chr17_29620938_29935228	29895740	ATATAAAA others(179): Show ATATAAAATGTATTTTATATACACATTTCATGTATAAAATGTATTTTATA TACACATTTCATGTATAAAATGTATTTTATATACACATTTCATGTATAAA ATGTATTTTATATACACATTTCATGTATAAAATGTATTTTATATACACAT TTCATGTATAAAATGTATTTTATATACACATTTCATG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03540.hp2 HG02572.hp1 HG03540.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0010 a0001c0001 a0008c0010	a0001c0001t0004 a0008c0010t0004 a0001c0001t0004 a0008c0010t0004	a0001c0001t0004g0126 a0008c0010t0004g0125 a0001c0001t0004g0126 a0008c0010t0004g0125	2	232	0.0086	-186	c.63+ others(17): Show c.63+34012_63+34197del		SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15						chr17	TogoVar
STK38L_chr12_27239286_27330959	27241029	ATGTATAG others(179): Show ATGTATAGTTATATATATTACATATATGACTCTGTATAGTTATATATATT ACATATATGACTCTGTATAGTTATATATATTACATATATGACTCTGTATA GTTATATATATTACATATATGACTCTGTATAGTTATATATATTACATATA TGACTCTGTATAGTTATATATATTACATATATGACTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	374	0.0027	-186	c.-33 others(11): Show c.-3314_-3129del		STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding					3256		chr12	TogoVar
STK38L_chr12_27239286_27330959	27241243	ACTCTGTA others(179): Show ACTCTGTATAGTTATATATATTACATATATGACTCTGTATAGTTATATAT ATTACATATATGACTCTGTATAGTTATATATTACATATATGACTCTGTAT AGTTATATATATTACATATATGACTCTGTATAGTTATATATATTACATAT ATGACTCTGTATAGTTATATATATTACATATATGACT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp2 NA19000.hp2 NA18965.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0314 a0001c0001t0003g0064 a0001c0001t0001g0314 a0001c0001t0003g0064	2	374	0.0054	-186	c.-31 others(11): Show c.-3100_-2915del		STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding					3042		chr12	TogoVar
TAFA2_chr12_61703273_62197773	61901250	TCAATTTC others(179): Show TCAATTTCACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTATACTCT AAGTTTTAGGGTACATGTGCATATTGTGCAGGTTAGTTACATATGTATAC ATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGG TATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(181): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01952.hp1 HG01952.hp2 HG02004.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18971.hp1 NA18972.hp2 NA18977.hp1 NA18988.hp1 NA18988.hp2 NA18992.hp1 NA18999.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0002t0001	a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0020 others(181): Show a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0131 a0001c0001t0001g0139 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0002g0018 a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0050 a0001c0001t0002g0053 a0001c0001t0002g0058 a0001c0001t0002g0062 a0001c0001t0002g0066 a0001c0001t0002g0071 a0001c0001t0002g0080 a0001c0001t0002g0084 a0001c0001t0002g0089 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0102 a0001c0001t0002g0105 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0122 a0001c0001t0002g0132 a0001c0001t0002g0134 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0149 a0001c0001t0002g0154 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0161 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0171 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0184 a0001c0001t0003g0013 a0001c0001t0003g0034 a0001c0001t0003g0046 a0001c0001t0003g0055 a0001c0001t0003g0072 a0001c0001t0003g0079 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0110 a0001c0001t0003g0119 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0130 a0001c0001t0003g0135 a0001c0001t0003g0138 a0001c0001t0003g0150 a0001c0001t0003g0153 a0001c0001t0003g0164 a0001c0001t0003g0166 a0001c0001t0004g0012 a0001c0001t0004g0019 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0047 a0001c0001t0004g0061 a0001c0001t0004g0101 a0001c0001t0004g0104 a0001c0001t0005g0187 a0001c0001t0005g0190 a0001c0001t0005g0192 a0001c0001t0005g0196 a0001c0001t0005g0197 a0001c0001t0005g0200 a0001c0001t0005g0207 a0001c0001t0005g0210 a0001c0001t0006g0014 a0001c0001t0006g0016 a0001c0001t0006g0103 a0001c0001t0006g0106 a0001c0001t0006g0172 a0001c0001t0006g0181 a0001c0001t0007g0107 a0001c0001t0007g0108 a0001c0001t0007g0114 a0001c0001t0007g0116 a0001c0001t0007g0155 a0001c0001t0007g0182 a0001c0001t0008g0186 a0001c0001t0008g0194 a0001c0001t0008g0206 a0001c0001t0008g0208 a0001c0001t0008g0211 a0001c0001t0009g0059 a0001c0001t0009g0083 a0001c0001t0009g0115 a0001c0001t0009g0117 a0001c0001t0009g0151 a0001c0001t0010g0188 a0001c0001t0010g0201 a0001c0001t0010g0203 a0001c0001t0010g0212 a0001c0001t0011g0003 a0001c0001t0011g0005 a0001c0001t0011g0008 a0001c0001t0012g0162 a0001c0001t0013g0193 a0001c0001t0013g0205 a0001c0001t0014g0001 a0001c0001t0014g0004 a0001c0001t0015g0011 a0001c0001t0016g0189 a0001c0001t0016g0191 a0001c0001t0017g0214 a0001c0001t0017g0215 a0001c0001t0018g0217 a0001c0001t0018g0220 a0001c0001t0020g0006 a0001c0001t0022g0109 a0001c0001t0024g0023 a0001c0001t0025g0202 a0001c0001t0026g0198 a0001c0001t0027g0199 a0001c0001t0029g0213 a0001c0001t0030g0216 a0001c0001t0031g0219 a0001c0001t0032g0218 a0001c0002t0001g0041	184	220	0.8364	-186	c.-1- others(17): Show c.-1-34010_-1-33825del		TAFA2	ENSG00000198673.11	transcript	ENST00000416284.8	protein_coding	1/4						chr12	TogoVar
TEX13D_chrX_124327660_124341863	124334252	CCCCCTGG others(179): Show CCCCCTGGGGGACAGCAGAAGTCATATCAAGGAAGAAGGCCCAGAGGGGC CCCAGAGGATTGTCCTCCAGGGAGACAACAGGAGCTATAGCCAGGAAGGA AGCCCAGAGAGGGCCCAGGGGATGGCCACCCTGGTGTTTAGCAGGAGCTG CAAACCAGAAGAAGGTCCAGAGAGGCCCCAGGACACT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00280.hp1 HG00544.hp2 HG00597.hp1 others(31): Show HG00280.hp1 HG00544.hp2 HG00597.hp1 HG00621.hp1 HG00741.hp1 HG01169.hp2 HG01257.hp2 HG01258.hp1 HG02056.hp1 HG02074.hp1 HG02083.hp1 HG02273.hp2 HG02572.hp1 HG02809.hp1 HG02965.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03654.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG04184.hp2 NA18522.hp1 NA18956.hp1 NA18959.hp1 NA18964.hp1 NA18969.hp2 NA18981.hp1 NA19084.hp2 NA19090.hp2 NA19240.hp2 NA20905.hp1	a0004 a0007 a0017 a0004 a0007 a0017	a0004c0005 a0007c0008 a0017c0017 a0004c0005 a0007c0008 a0017c0017	a0004c0005t0002 a0004c0005t0006 a0004c0005t0011 others(3): Show a0004c0005t0002 a0004c0005t0006 a0004c0005t0011 a0007c0008t0002 a0007c0008t0004 a0017c0017t0001	a0004c0005t0002g0000 a0004c0005t0006g0000 a0004c0005t0011g0000 others(3): Show a0004c0005t0002g0000 a0004c0005t0006g0000 a0004c0005t0011g0000 a0007c0008t0002g0000 a0007c0008t0004g0000 a0017c0017t0001g0000	34	333	0.1021	-186	c.160 others(9): Show c.1602_1787del	p.Ser others(13): Show p.Ser535_Arg596del	TEX13D	ENSG00000282419.3	transcript	ENST00000632372.3	protein_coding	1/1	1860/4204	1602/2145	534/714		INFO_REALIGN_3_PRIME	chrX	TogoVar
TMEM132D_chr12_129066726_129909025	129479718	GTGAAGAA others(179): Show GTGAAGAAAGTTCTCACTGTGTCCTAGAGATTTGAAGAAAGTTCTCACTG TGTCCTAGAGATTTGAAGAAAGTTCTCACTGTGTCCTAGAGATTTGAAGA AAGTTCTCACTGTGTCCTAGAGATTTGAAGAAAGTTCTCACTGTGTCCTA GAGATTTGAAGAAAGTTCTCACTGTGTCCTAGAGATT	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0061 a0002c0003t0001g0061	1	94	0.0106	-186	c.111 others(21): Show c.1115+51155_1115+51340del		TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	3/8						chr12	TogoVar
TMEM255B_chr13_113754226_113821995	113788047	AGTGGGGA others(179): Show AGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGG GAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGG ATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCG GAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp2 HG02723.hp1 others(2): Show HG02717.hp1 HG02717.hp2 HG02723.hp1 HG03098.hp2 HG03471.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0003 a0006c0020 a0001c0001 a0002c0003 a0006c0020	a0001c0001t0036 a0002c0003t0119 a0002c0003t0120 others(2): Show a0001c0001t0036 a0002c0003t0119 a0002c0003t0120 a0002c0003t0124 a0006c0020t0079	a0001c0001t0036g0052 a0002c0003t0119g0046 a0002c0003t0120g0049 others(2): Show a0001c0001t0036g0052 a0002c0003t0119g0046 a0002c0003t0120g0049 a0002c0003t0124g0092 a0006c0020t0079g0036	5	260	0.0192	-186	c.253 others(17): Show c.253-6931_253-6746del		TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
TPCN2_chr11_69043932_69095597	69082874	GCATGATC others(179): Show GCATGATCGTGTGTGCACACATCGCGTGCAGATATCCACGTGAACTCGTG CCCGTGTAAGATGCATGATCGTGTGTGCACACATCGCATGCAGATATCCT TGTGAACTCGTGCCCGTGTAAGACGCATGATCGTGTGTGCACACATCGCA TGCAGATATCCTTGTGAACTCGTGCCCGTGTAAGACA	G G	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18945.hp2 NA18993.hp1 others(3): Show NA18942.hp1 NA18945.hp2 NA18993.hp1 NA18997.hp2 NA19080.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0011 a0001c0001t0005g0295 a0001c0001t0005g0296 a0001c0001t0005g0011 a0001c0001t0005g0295 a0001c0001t0005g0296	6	404	0.0149	-186	c.169 others(18): Show c.1690-1046_1690-861del		TPCN2	ENSG00000162341.18	transcript	ENST00000294309.8	protein_coding	18/24					INFO_REALIGN_3_PRIME	chr11	TogoVar
TRAPPC9_chr8_139722725_140462744	140156972	AAAGCCTC others(179): Show AAAGCCTCCCTTTCCATTCAAAAGCCTCCCTTTTCCATTCAGAAGCCTCC CTTTTCCATTCAAAAGCCTCCCTTTTCCATTCAAAAGCCTCCCTTTCCAT TCAAAAGCCTCCCTTTTCCATTCAGAAGCCTCCCTTTCCATTCAGAAGCC TCCCTTTTCCATTCAGAAGCCTCCCTTTTCCATTCAG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03041.hp2 HG02723.hp1 HG03041.hp2	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0027 a0001c0006t0005 a0001c0005t0027 a0001c0006t0005	a0001c0005t0027g0080 a0001c0006t0005g0017 a0001c0005t0027g0080 a0001c0006t0005g0017	2	98	0.0204	-186	c.255 others(21): Show c.2556+64301_2556+64486del		TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	17/22						chr8	TogoVar
TRIM46_chr1_155168849_155189970	155189784	TGTCCGGG others(179): Show TGTCCGGGGCCGAGGTGACACCGTGGGCTTGGGGGGCGGTGGAGCCCGGG GCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGT GTAGCCCGGGGCGGGCCTTGTGTCCGGGGCCGAGGTGACACCGTGGGCTG GGGGGGCGGTGGAGCCCGGGGCGGGACTGGTGTCCGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	348	0.0029	-186	c.55 others(11): Show c.5595_*5780del		TRIM46	ENSG00000163462.19	transcript	ENST00000334634.9	protein_coding					4815		chr1	TogoVar
TSNARE1_chr8_142207080_142408182	142390616	GCAGACGC others(179): Show GCAGACGCTGTACACTGCGGGGGACTCTGTAACAGAAGCTGTACACTGCG GGGGACTCCGTAACAGACGCTGTACACTGCGGGGGACTCCGTAACAGAAG CTGTACACTGCGGGGGACTCCGTAACAGACGCTGTACACTGCGGGGGACT CCGTAACAGACGCTGTACACTGCGGGGGACTCCGTAA	G G	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0002 a0006c0006t0002	a0006c0006t0002g0221 a0006c0006t0002g0221	1	238	0.0042	-186	c.-40 others(19): Show c.-40+12302_-40+12487del		TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	1/13						chr8	TogoVar
TWF1_chr12_43788723_43811317	43790799	ATGGTATG others(179): Show ATGGTATGGTTTGTTATTCGTTAGTATGAAGATTACAGGTATAAGCTACC ATGAAAATCACATTGAAAATCACCTAGTTTGTGATGCATTAGTATGGTAT GGTTTGTTATTCGTTAGTATGAAGATTACAGGTATAAGCTACCATGAAAA TCACATTGAAAATCACCTAGTTTGTGATGCATTAGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00741.hp1 HG01070.hp1 others(31): Show HG00738.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01099.hp2 HG01175.hp2 HG01255.hp1 HG01361.hp2 HG01884.hp1 HG01993.hp1 HG02055.hp2 HG02056.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02683.hp1 HG02723.hp1 HG02809.hp1 HG02976.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG03540.hp1 NA18939.hp1 NA18940.hp1 NA18954.hp1 NA19004.hp2 NA19010.hp1 NA19043.hp2 NA19060.hp1 NA19081.hp2 NA19090.hp1 NA20805.hp1 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0007 a0001c0002t0002 a0001c0002t0007	a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0017 others(11): Show a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0075 a0001c0002t0007g0024	34	382	0.0890	-186	c.46 others(11): Show c.4600_*4785del		TWF1	ENSG00000151239.14	transcript	ENST00000395510.7	protein_coding					2923		chr12	TogoVar
TYMS_chr18_652653_678578	666888	GGGAGATG others(179): Show GGGAGATGGTGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATG GAGATGGTGATGGTGATGGAGATGGAGATGGTGATGGAGATGGAGATGGT GATGGTGATGGAGATGGTGATGGTGATGGAGATGGAGATGGTGATGGAGA TGGTGATGGTGATGGAGATGGAGATGGTGATGGTGAT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0182 a0001c0002t0005g0182	1	482	0.0021	-186	c.455 others(17): Show c.455-2169_455-1984del		TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr18	TogoVar
TYMS_chr18_652653_678578	666939	AGATGGTG others(179): Show AGATGGTGATGGTGATGGAGATGGAGATGGTGATGGAGATGGAGATGGTG ATGGTGATGGAGATGGTGATGGTGATGGAGATGGAGATGGTGATGGAGAT GGTGATGGTGATGGAGATGGAGATGGTGATGGTGATGGAGATGGTGATGG TGATGGAGATGGAGATGGAGATGGTGATGGTGATGGT	A A	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18948.hp1 NA18988.hp2 NA18940.hp2 NA18948.hp1 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0027 a0001c0001t0003g0336 a0001c0001t0002g0027 a0001c0001t0003g0336	3	482	0.0062	-186	c.455 others(17): Show c.455-2127_455-1942del		TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr18	TogoVar
UBE3A_chr15_25328728_25444024	25430101	TATATATA others(179): Show TATATATATAATACATATATATAAGATTATATATATATTATATATATAAT ACATATATATAAGATTATATATATATTATATATATAATACATATATATAA GATTATATATATATTATATATATAATACATATATATAAGATTATATATAT ATTATATATATAATACATATATAAGATTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01169.hp2 HG01346.hp1 others(2): Show HG01071.hp2 HG01169.hp2 HG01346.hp1 HG01516.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0053 a0001c0001t0003 a0001c0001t0006 a0001c0001t0053	a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0245 others(2): Show a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0006g0054 a0001c0001t0053g0055	5	298	0.0168	-186	c.-16 others(19): Show c.-165+8202_-165+8387del		UBE3A	ENSG00000114062.22	transcript	ENST00000648336.2	protein_coding	1/12						chr15	TogoVar
VIPR2_chr7_159023175_159149867	159132762	CTGATTTC others(179): Show CTGATTTCAGACAGAATGATTGGCATACAGACTGATTTCAGACAGAATGA TTGGCATACCGATTGATTTGAGACAGAATGATTGGCATACCGATTGATTT TAGACAGAATGATTGGCATACAGATTGATTTCAGACAGAATGATTGGCAT ACAGATTGATTTCAGACAGAATGATTGGCATACAGAT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0157 a0001c0002t0007g0157	1	336	0.0030	-186	c.151 others(17): Show c.151+9498_151+9683del		VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	2/12						chr7	TogoVar
VIPR2_chr7_159023175_159149867	159132790	AGACTGAT others(179): Show AGACTGATTTCAGACAGAATGATTGGCATACCGATTGATTTGAGACAGAA TGATTGGCATACCGATTGATTTTAGACAGAATGATTGGCATACAGATTGA TTTCAGACAGAATGATTGGCATACAGATTGATTTCAGACAGAATGATTGG CATACAGATTGATTTCAGACAGAATGATTGGCATACC	A A	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0156 a0001c0002t0007g0156	1	336	0.0030	-186	c.151 others(17): Show c.151+9470_151+9655del		VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	2/12						chr7	TogoVar
WDR27_chr6_169452212_169707029	169664850	AGCACGGG others(179): Show AGCACGGGGGATGCCACACAGGAGCCGTCCAGGGCGCCTCTCCGGGGCGC GGGCAGCGTGCGGGCACGGGGGATGCCACACAGGAGCCGTCCAGGGCGCC TCTCCGGGGCGCGGGCAGCGTGCGGGCACGGGGGATGCCACACAGGAGCC GTCCAGGGCGCCTCTCCGGGGCGCGGGCAGCGTGCGG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp2 HG00621.hp1 others(55): Show HG00558.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00735.hp2 HG01069.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01884.hp2 HG02004.hp2 HG02055.hp2 HG02071.hp2 HG02080.hp1 HG02132.hp2 HG02165.hp2 HG02602.hp1 HG02622.hp2 HG02717.hp1 HG02738.hp2 HG02895.hp1 HG02896.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03209.hp1 HG03486.hp1 HG03491.hp1 HG03516.hp1 HG03710.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18944.hp1 NA18945.hp2 NA18949.hp2 NA18954.hp1 NA18957.hp2 NA18966.hp1 NA18970.hp1 NA18979.hp1 NA18981.hp1 NA18981.hp2 NA18986.hp1 NA18995.hp2 NA19003.hp1 NA19012.hp2 NA19054.hp1 NA19056.hp2 NA19066.hp1 NA19077.hp1 NA19084.hp1 NA19086.hp1 NA19090.hp1 NA19090.hp2	a0002 a0006 a0007 others(7): Show a0002 a0006 a0007 a0009 a0011 a0014 a0030 a0031 a0032 a0035	a0002c0003 a0002c0024 a0006c0005 others(10): Show a0002c0003 a0002c0024 a0006c0005 a0007c0011 a0007c0012 a0007c0017 a0009c0013 a0011c0015 a0014c0025 a0030c0030 a0031c0032 a0032c0029 a0035c0028	a0002c0003t0002 a0002c0003t0005 a0002c0024t0005 others(16): Show a0002c0003t0002 a0002c0003t0005 a0002c0024t0005 a0006c0005t0004 a0006c0005t0010 a0007c0011t0010 a0007c0011t0016 a0007c0012t0003 a0007c0012t0004 a0007c0012t0015 a0007c0017t0010 a0007c0017t0014 a0009c0013t0005 a0011c0015t0002 a0014c0025t0003 a0030c0030t0004 a0031c0032t0004 a0032c0029t0010 a0035c0028t0013	a0002c0003t0002g0041 a0002c0003t0002g0042 a0002c0003t0002g0061 others(55): Show a0002c0003t0002g0041 a0002c0003t0002g0042 a0002c0003t0002g0061 a0002c0003t0002g0062 a0002c0003t0002g0064 a0002c0003t0002g0065 a0002c0003t0002g0068 a0002c0003t0002g0071 a0002c0003t0002g0072 a0002c0003t0002g0073 a0002c0003t0005g0063 a0002c0024t0005g0051 a0002c0024t0005g0075 a0006c0005t0004g0003 a0006c0005t0004g0005 a0006c0005t0004g0006 a0006c0005t0004g0007 a0006c0005t0004g0009 a0006c0005t0004g0010 a0006c0005t0004g0011 a0006c0005t0004g0012 a0006c0005t0004g0013 a0006c0005t0004g0014 a0006c0005t0004g0015 a0006c0005t0004g0016 a0006c0005t0004g0017 a0006c0005t0004g0018 a0006c0005t0004g0019 a0006c0005t0004g0020 a0006c0005t0004g0021 a0006c0005t0004g0022 a0006c0005t0004g0023 a0006c0005t0004g0024 a0006c0005t0004g0032 a0006c0005t0004g0033 a0006c0005t0010g0034 a0007c0011t0010g0004 a0007c0011t0010g0025 a0007c0011t0010g0027 a0007c0011t0016g0036 a0007c0012t0003g0246 a0007c0012t0004g0029 a0007c0012t0004g0030 a0007c0012t0015g0035 a0007c0017t0010g0002 a0007c0017t0014g0031 a0009c0013t0005g0060 a0009c0013t0005g0070 a0009c0013t0005g0074 a0011c0015t0002g0066 a0011c0015t0002g0067 a0011c0015t0002g0069 a0014c0025t0003g0190 a0014c0025t0003g0191 a0030c0030t0004g0008 a0031c0032t0004g0028 a0032c0029t0010g0026 a0035c0028t0013g0001	58	294	0.1973	-186	c.783 others(15): Show c.783+450_784-565del		WDR27	ENSG00000184465.16	transcript	ENST00000448612.6	protein_coding	7/25						chr6	TogoVar
ACTN4_chr19_38642649_38736589	38735727	GGGGGCGG others(178): Show GGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGGTTCTGGGGGCGGGG CGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGGGGTTCTGGGGGCGGGG CGGGGGTTCTGGGGGCGGGGCGGGGCGGGGCGGTGGTTCTGCGGGCGGGG CGGGGCGGGGCGGGGCGGGGCGGGGGTTCTGGGGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01943.hp1 HG02273.hp1 others(1): Show HG01496.hp1 HG01943.hp1 HG02273.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0107 a0001c0001t0002g0146 others(1): Show a0001c0001t0002g0097 a0001c0001t0002g0107 a0001c0001t0002g0146 a0001c0001t0002g0148	4	314	0.0127	-185	c.62 others(11): Show c.6296_*6480del		ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding					4139		chr19	TogoVar
AHRR_chr5_316714_443285	352477	CTGAGGTT others(178): Show CTGAGGTTAAATAGGTCAGCTGTAGGGGATGGTCACTGTGAGGTTAAATG GGTCAGCTGTAGGGGATGGTCACTCTGAGGTTAAATAGGTCAGCTGTAGG GGATGGTCACTCTGAGTTTAAATGGGTCAGCTGTAGGGGATGGTCACTCT GAGGTTAAATAGGTCAGCTGTAGGGGACGGTCACTG	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01243.hp2 HG01256.hp2 others(6): Show HG00741.hp2 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01928.hp1 HG02683.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0012 a0003c0004t0028 a0003c0004t0004 a0003c0004t0012 a0003c0004t0028	a0003c0004t0004g0002 a0003c0004t0004g0004 a0003c0004t0004g0009 others(4): Show a0003c0004t0004g0002 a0003c0004t0004g0004 a0003c0004t0004g0009 a0003c0004t0004g0011 a0003c0004t0012g0001 a0003c0004t0028g0006 a0003c0004t0028g0217	9	268	0.0336	-185	c.63- others(15): Show c.63-1241_63-1057del		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
C2CD4C_chr19_400445_414147	404130	GGGACGGG others(178): Show GGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCCCTG AGGGGTGTGGGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGAC GGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGTCCTGTCCTGAGGGGT CTGAGGGGGGGACGGGGTCCTGCCCTGAGGGGGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0007 a0001c0002t0011g0007	1	322	0.0031	-185	c.27 others(11): Show c.2781_*2965del		C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding					1314		chr19	TogoVar
C2CD4C_chr19_400445_414147	410763	GTCCTGGG others(178): Show GTCCTGGGGGTCTGTCCACTGCCCCTGCTGGGCCCGGATCCTGGGGATCT GTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGTCACT GCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGAT CCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 NA18945.hp2 NA18950.hp2 others(4): Show HG00423.hp2 NA18945.hp2 NA18950.hp2 NA18973.hp1 NA18983.hp1 NA18997.hp2 NA19082.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0039 a0001c0002t0011 a0001c0002t0039	a0001c0002t0011g0007 a0001c0002t0039g0138 a0001c0002t0011g0007 a0001c0002t0039g0138	7	322	0.0217	-185	c.-19 others(11): Show c.-1983_-1799del		C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding					1617		chr19	TogoVar
C7orf50_chr7_992006_1143247	1031472	CCAGAGAC others(178): Show CCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGGGGCAGAGACCTGCA GGGAGGGCAGAGTGGTCCGGGGCGGCAGAGACCTGCAGGGAGGGCAGAGT GGTCCGGGGCGGCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGCGGC AGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGCGG	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03834.hp1 HG02572.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0023 a0001c0001t0005g0287 a0001c0001t0001g0023 a0001c0001t0005g0287	2	326	0.0061	-185	c.130 others(19): Show c.130-21514_130-21330del		C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4						chr7	TogoVar
CAPN12_chr19_38725192_38749474	38735727	GGGGGCGG others(178): Show GGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGGTTCTGGGGGCGGGG CGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGGGGTTCTGGGGGCGGGG CGGGGGTTCTGGGGGCGGGGCGGGGCGGGGCGGTGGTTCTGCGGGCGGGG CGGGGCGGGGCGGGGCGGGGCGGGGGTTCTGGGGGC	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01943.hp2 HG02273.hp1 others(1): Show HG01496.hp1 HG01943.hp2 HG02273.hp1 HG02300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0014 a0001c0002t0002g0170 a0001c0002t0002g0237 a0001c0002t0002g0014 a0001c0002t0002g0170 a0001c0002t0002g0237	4	342	0.0117	-185	c.158 others(17): Show c.1583+198_1584-184del		CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20						chr19	TogoVar
CBLC_chr19_44772890_44805652	44781723	CTCCTGGG others(178): Show CTCCTGGGTCTGAGGGAGGAGGGCCTGGGGCCTGGACTCCTGGGTCTGAG GGAGGAGGGGGCTGGAGACCTGGACTCCAGGGTCTGAGGGAGGAGGGGGT GAGGGCCCGGACTCCAGGGTTTGAGGGAGGAGAGGGCGGGGGGCCTGGAC TCTTGGGTCTGAGGGAGGAGGGCCTGGGGCCTGGAT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01891.hp1 HG02109.hp2 others(9): Show HG01123.hp1 HG01891.hp1 HG02109.hp2 HG02258.hp1 HG02723.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03453.hp1 HG03579.hp1 NA18522.hp2 NA19240.hp1	a0000 a0001 a0000 a0001	a0000c0007 a0001c0008 a0001c0009 a0000c0007 a0001c0008 a0001c0009	a0000c0007t0001 a0001c0008t0001 a0001c0009t0001 a0000c0007t0001 a0001c0008t0001 a0001c0009t0001	a0000c0007t0001g0014 a0000c0007t0001g0042 a0000c0007t0001g0046 others(7): Show a0000c0007t0001g0014 a0000c0007t0001g0042 a0000c0007t0001g0046 a0000c0007t0001g0051 a0000c0007t0001g0057 a0001c0008t0001g0015 a0001c0008t0001g0050 a0001c0008t0001g0056 a0001c0009t0001g0065 a0001c0009t0001g0073	12	344	0.0349	-185	c.657 others(15): Show c.657+420_658-403del		CBLC	ENSG00000142273.13	transcript	ENST00000647358.2	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr19	TogoVar
CCNF_chr16_2424447_2463854	2442453	TATAATAT others(178): Show TATAATATAATATTATTATATATAATATATAATATTATATAATATAATAT TATTATATATAATATATAATATTATATAATATAATATTATTATATATAAT ATATAATATTATATAATATAATATTATTATATATAATATATAATATTATA TAATATAATATTATATATAATATATAATATTATATA	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	276	0.0036	-185	c.778 others(17): Show c.778-1192_778-1008del		CCNF	ENSG00000162063.13	transcript	ENST00000397066.9	protein_coding	8/16					INFO_REALIGN_3_PRIME	chr16	TogoVar
CD247_chr1_167425640_167523529	167434947	CTCCTCCA others(178): Show CTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCT TCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCC TCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTA CCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	374	0.0027	-185	c.336 others(15): Show c.336+267_336+451del		CD247	ENSG00000198821.12	transcript	ENST00000362089.10	protein_coding	5/7						chr1	TogoVar
CDC42EP5_chr19_54460026_54478296	54471871	CCCCCCAG others(178): Show CCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCCCCAGCCCCT CCTCCCTCAGACCCAGGAGTCCAGACCCCAGCCCCTCCTCCCTCAGACCC AGGAGTCCAGACCCCCCAGCCCTTCCTCCCTCAGACCCAGGAGTCCAGGC CCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGG	C C	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	421	0.0024	-185	c.-14 others(17): Show c.-141-371_-141-187del		CDC42EP5	ENSG00000167617.3	transcript	ENST00000301200.3	protein_coding	1/2						chr19	TogoVar
CSMD1_chr8_2930361_4999914	3723963	TAATGTTG others(178): Show TAATGTTGTGTGAAAGAAAAATGTCCACTATTATCTAAGAGGGATATTAA AATACGCCTCTCTTTTTCAACTTTCTATCTGTGTAAACACAGATTTTGTT CATTGACTTCAACCAGAATAACAGAGCACAGCACATTAAATACGAAAGCA GATATGAGAAACCAGCCTCTTTCACCATGCCAGACG	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01071.hp1 HG01071.hp2 others(37): Show HG00423.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01934.hp1 HG02074.hp2 HG02129.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02486.hp1 HG02683.hp1 HG02723.hp2 HG02965.hp1 HG03017.hp1 HG03098.hp2 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03834.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18971.hp1 NA18971.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18995.hp1 NA19043.hp1 NA19074.hp1 NA19090.hp2 NA20129.hp2	a0001 a0002 a0004 others(10): Show a0001 a0002 a0004 a0005 a0011 a0016 a0019 a0020 a0023 a0030 a0034 a0035 a0037	a0001c0001 a0001c0002 a0001c0003 others(35): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0021 a0001c0047 a0001c0049 a0001c0059 a0001c0061 a0001c0068 a0001c0093 a0001c0103 a0001c0105 a0001c0108 a0001c0109 a0001c0111 a0001c0114 a0001c0115 a0002c0031 a0002c0041 a0002c0075 a0002c0076 a0002c0077 a0002c0089 a0002c0091 a0002c0092 a0004c0086 a0004c0087 a0005c0065 a0011c0110 a0016c0063 a0019c0018 a0020c0024 a0023c0095 a0030c0052 a0034c0055 a0035c0098 a0037c0101	a0001c0001t0002 a0001c0001t0039 a0001c0002t0061 others(36): Show a0001c0001t0002 a0001c0001t0039 a0001c0002t0061 a0001c0003t0019 a0001c0006t0002 a0001c0021t0005 a0001c0047t0014 a0001c0049t0002 a0001c0059t0001 a0001c0061t0001 a0001c0068t0015 a0001c0093t0009 a0001c0103t0033 a0001c0105t0001 a0001c0108t0054 a0001c0109t0038 a0001c0111t0045 a0001c0114t0003 a0001c0115t0042 a0002c0031t0015 a0002c0041t0027 a0002c0075t0026 a0002c0076t0035 a0002c0077t0001 a0002c0089t0001 a0002c0091t0002 a0002c0092t0001 a0004c0086t0002 a0004c0087t0001 a0005c0065t0023 a0011c0110t0074 a0016c0063t0010 a0019c0018t0058 a0020c0024t0077 a0023c0095t0002 a0030c0052t0049 a0034c0055t0034 a0035c0098t0025 a0037c0101t0008	a0001c0001t0002g0102 a0001c0001t0002g0125 a0001c0001t0039g0017 others(37): Show a0001c0001t0002g0102 a0001c0001t0002g0125 a0001c0001t0039g0017 a0001c0002t0061g0069 a0001c0003t0019g0107 a0001c0006t0002g0109 a0001c0021t0005g0012 a0001c0047t0014g0024 a0001c0049t0002g0071 a0001c0059t0001g0036 a0001c0061t0001g0021 a0001c0068t0015g0049 a0001c0093t0009g0007 a0001c0103t0033g0028 a0001c0105t0001g0029 a0001c0108t0054g0074 a0001c0109t0038g0013 a0001c0111t0045g0063 a0001c0114t0003g0119 a0001c0115t0042g0055 a0002c0031t0015g0001 a0002c0041t0027g0018 a0002c0075t0026g0051 a0002c0076t0035g0014 a0002c0077t0001g0016 a0002c0089t0001g0037 a0002c0091t0002g0114 a0002c0092t0001g0011 a0004c0086t0002g0118 a0004c0087t0001g0022 a0005c0065t0023g0050 a0011c0110t0074g0082 a0016c0063t0010g0045 a0019c0018t0058g0068 a0020c0024t0077g0104 a0023c0095t0002g0124 a0030c0052t0049g0098 a0034c0055t0034g0047 a0035c0098t0025g0019 a0037c0101t0008g0023	40	126	0.3175	-185	c.932 others(19): Show c.932-15657_932-15473del		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	6/69						chr8	TogoVar
CST8_chr20_23486117_23501010	23490224	ATATATAT others(178): Show ATATATATATTAATTATATATATAATATATATATAAATTATATATATATT AATTATATATATATAAAATATATATAATTTATATATATAAAATATATATA ATTTATATATATAAATTATATATAAAATATATATAATTTATATATATAAA TTATATATAAAATATATATAATTTATATATAAAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02965.hp2 NA20129.hp1 HG02896.hp2 HG02965.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	3	440	0.0068	-185	c.-12 others(11): Show c.-1261_-1077del		CST8	ENSG00000125815.9	transcript	ENST00000246012.2	protein_coding					892		chr20	TogoVar
DHRSX_chrX_2214506_2505976	2228072	GAGGGGAA others(178): Show GAGGGGAAGGGAGGGAGGGAAGGAGGGAGGAAGGGAGGGAGGGAGGGAAG GGAGGGAGGGAGGGAGGGAAGGGAGGGAGGGAGGGAGGGAGGGGGGAAGG GAGGGAGGGAGGGGGGAAGGGGGGAAGGGAGGGAGGGAGGGAGGGAGAGA GGGAGGGAGAGAGGGAGGGAGAGAGGGAGGGAGGAA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0011 a0011	a0011c0007 a0011c0007	a0011c0007t0001 a0011c0007t0001	a0011c0007t0001g0028 a0011c0007t0001g0028	1	50	0.0200	-185	c.805 others(17): Show c.805-7028_805-6844del		DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6						chrX	TogoVar
DLGAP2_chr8_732628_1713476	1642800	CCCTCGAC others(178): Show CCCTCGACCCCGCCGGCCCTCACCTGTGTCACCCTCGAACCCGCCGGTCC TCACCTGTGTCACCCTCGACCCCGCCGGTCCTCACCTGTGTCACCCTCGA CCCCCCCGGTCCTCACCTGTGTCACCCTCGACCCCCCCGGTCCTCACCTG TGTCACCCTCGACCCCGCCGGTCCTCACCTGTGTCA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02895.hp2 HG02922.hp2 others(1): Show HG00639.hp2 HG02895.hp2 HG02922.hp2 HG02976.hp1	a0001 a0002 a0001 a0002	a0001c0010 a0002c0001 a0002c0007 a0001c0010 a0002c0001 a0002c0007	a0001c0010t0025 a0002c0001t0002 a0002c0001t0019 others(1): Show a0001c0010t0025 a0002c0001t0002 a0002c0001t0019 a0002c0007t0008	a0001c0010t0025g0012 a0002c0001t0002g0032 a0002c0001t0019g0030 others(1): Show a0001c0010t0025g0012 a0002c0001t0002g0032 a0002c0001t0019g0030 a0002c0007t0008g0040	4	40	0.1000	-185	c.181 others(19): Show c.1810+9757_1810+9941del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1643420	CCCTGGAA others(178): Show CCCTGGAACCCGCCGGCCCTCACCTGTGTCACCCTGGAACCCGCCGGTCC TCACCTGTGTCACCCTCGAACCCGCCGGTCCTCACCTGTGTCACCCTCGA ACCCGCCGGTCCTCACCTGTGTCACCCTCGACCCCGCCGGCCCTCACCTG TGTCACCCTCCAACCCGCCGGTCCTCACCTGTGTCA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03516.hp2 HG02258.hp1 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0001 a0002c0001t0005 a0001c0003t0001 a0002c0001t0005	a0001c0003t0001g0026 a0002c0001t0005g0028 a0001c0003t0001g0026 a0002c0001t0005g0028	2	40	0.0500	-185	c.181 others(21): Show c.1810+10377_1810+10561del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1643823	CCCTCGAC others(178): Show CCCTCGACCCCGCCGGCCCTCACCTGTGTCACCCTCGACCCCGCCGGCCC TCACCTGTGTCACCCTCCAACCCGCCGGTCCTCACCTGTGTCACCCTCGA CCCCGCCGGCCCTCACCTGTGTCACCCTCGACCCCGCCGGCCCTCACCTG TGTCACCCTCGACCCCGCCGGTCCTCACCTGTGTCA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02895.hp2 HG02922.hp2 others(1): Show HG00639.hp2 HG02895.hp2 HG02922.hp2 HG02976.hp1	a0001 a0002 a0001 a0002	a0001c0010 a0002c0001 a0002c0007 a0001c0010 a0002c0001 a0002c0007	a0001c0010t0025 a0002c0001t0002 a0002c0001t0019 others(1): Show a0001c0010t0025 a0002c0001t0002 a0002c0001t0019 a0002c0007t0008	a0001c0010t0025g0012 a0002c0001t0002g0032 a0002c0001t0019g0030 others(1): Show a0001c0010t0025g0012 a0002c0001t0002g0032 a0002c0001t0019g0030 a0002c0007t0008g0040	4	40	0.1000	-185	c.181 others(21): Show c.1810+10780_1810+10964del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DPP6_chr7_154047398_154899285	154656880	AGCTGCGT others(178): Show AGCTGCGTGGGAGGAGGTGCTCATGGGTGGGTGGAGAGGATGCGTGGGAG GAGGTGCTCATGGGTGGGTGGAGAGGCTGTGTGGGAGGAGGTGCCCAGAG ATGGGTGGAGAGGCTGCGTGGGAGGAGGTGCCCAGAGATGAGTGGAGAGG CTGCGTGGGAGGAGGTGCTCATGGGTGGGTGGAGAG	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0025 a0002c0014t0025	a0002c0014t0025g0029 a0002c0014t0025g0029	1	38	0.0263	-185	c.681 others(19): Show c.681-12441_681-12257del		DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	6/25					INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2378204	CGTGTTGT others(178): Show CGTGTTGTGTGAATGACCCTGGGTGTCGAGGAAGGAGAAGGCGCGAGCAC TGCTGGGATGCTGTGTTGTGTGAATGACCCTCGGTGTCATGGAGGAAGGA ACAGGCGAGCGTTCCTGGGATGCTGTGTTGTGTGAATGACCCTTGGTGTC ATGGAGGAAGGAACAGGCGAGCGCTCCTGGGATGCT	C C	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0077 a0003c0004t0001g0077	1	384	0.0026	-185	c.215 others(17): Show c.2155-458_2155-274del		EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
EPS8L1_chr19_55070869_55092923	55078251	TGCTGGGG others(178): Show TGCTGGGGGTCTGGACTCCTGGGTCAGAGGGAAGAGGGGCTGGGGGGCTG GACTCCTAGGTTTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGAGTCA GAGGGAAGAGGTGCTGGGGGCCTGGACTCCTGGGTCAGAGGGAAGAGGGG CTGGGGGGCTGGACTCCTGGGTCAGAGGGAAGAGGG	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02258.hp2 HG00438.hp1 HG02258.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0013c0009 a0001c0001 a0013c0009	a0001c0001t0001 a0013c0009t0001 a0001c0001t0001 a0013c0009t0001	a0001c0001t0001g0119 a0013c0009t0001g0158 a0001c0001t0001g0119 a0013c0009t0001g0158	2	340	0.0059	-185	c.58+ others(13): Show c.58+132_58+316del		EPS8L1	ENSG00000131037.15	transcript	ENST00000201647.11	protein_coding	3/19					INFO_REALIGN_3_PRIME	chr19	TogoVar
EPS8L1_chr19_55070869_55092923	55078653	AGAGGGGC others(178): Show AGAGGGGCTGGGGGCCTGGACTCCTGGGTCAGAGGGAAGAGGGGCTGGGG GCCTGGACTCCTGGGTCAGAGGGAAGAGGGGCTGGGGGTCTGGACTCCTG GGTCAGAGGGAGGAGGGGCTGGGGGGCTGGACTCCTGGGTCAGAGGGAAG AGGGGCTGGGGGCCTGGACTCCTGGGTTTGAGGGAG	A A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01346.hp2 HG01515.hp1 others(3): Show HG01255.hp2 HG01346.hp2 HG01515.hp1 HG01517.hp1 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0012t0001 a0001c0001t0001 a0001c0012t0001	a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0169 others(1): Show a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0169 a0001c0012t0001g0170	6	340	0.0177	-185	c.59- others(13): Show c.59-295_59-111del		EPS8L1	ENSG00000131037.15	transcript	ENST00000201647.11	protein_coding	3/19					INFO_REALIGN_3_PRIME	chr19	TogoVar
ESYT3_chr3_138429616_138484925	138474382	CCTCACCC others(178): Show CCTCACCCATTCAAGTATTTTCCAAGTACCTGTTATGTTGCCTGGCAGCC TGCCAGATGCTGGAAGGGGCTATGGCTGAACAAGACAACATAGTCTATGA CTTCATGAAGCTTCTGTACGTTAGTGGGGAAAATGGAGTGCCAGAGAAGT TTATCAAAATGGCCACCTACATTTACTGCTCATAGA	C C	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0012 a0012	a0012c0020 a0012c0020	a0012c0020t0001 a0012c0020t0001	a0012c0020t0001g0178 a0012c0020t0001g0178	1	338	0.0030	-185	c.246 others(16): Show c.2468+31_2468+215del		ESYT3	ENSG00000158220.14	transcript	ENST00000389567.9	protein_coding	20/22						chr3	TogoVar
ETFB_chr19_51340169_51371388	51353384	AGGGCCCC others(178): Show AGGGCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCAGGCCCCCATCCC CTCCTTCCTCAGACCCAGGAGTCCGGGCCCCCATCCCCTCCTTCCTCAGA CCCAGGAGTCCGGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCGG GCCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02109.hp1 HG02145.hp2 others(8): Show HG01243.hp2 HG02109.hp1 HG02145.hp2 HG02486.hp2 HG02622.hp1 HG02622.hp2 HG02717.hp2 HG02723.hp1 HG02895.hp1 HG02897.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0076 a0001c0001t0001g0077 others(4): Show a0001c0001t0001g0004 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0250 a0001c0001t0001g0306	11	436	0.0252	-185	c.217 others(14): Show c.217-279_217-95del		ETFB	ENSG00000105379.10	transcript	ENST00000309244.9	protein_coding	2/5						chr19	TogoVar
ETFB_chr19_51340169_51371388	51353495	GGGCCCCC others(178): Show GGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCGGGCCCCCATCCC CTCCTTCCTCAGACCCAGGAGTCCGGGCCCCCATCCCCTCCTTCCTCAGA CCCAGGAGTCCGGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCGG GCCCCCATCCCCTCCTTCTTCAGACCCAGGAGTCCA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02615.hp1 HG02258.hp2 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0259 a0001c0001t0001g0260	2	436	0.0046	-185	c.217 others(15): Show c.217-390_217-206del		ETFB	ENSG00000105379.10	transcript	ENST00000309244.9	protein_coding	2/5						chr19	TogoVar
F13A1_chr6_6139084_6325662	6258170	ACAGAGTC others(178): Show ACAGAGTCAGGATGCTCCAGGGTTAGCCTCAGTTTGTTTCTTAATTTTCT ATAGGACTTTGAGAAATGCACGTAACATCACAGAACCTGCTTTCTCTCTT GAAATCTGAGTCTAATAATCGTCTCCTTGCCTCTCAGAATGGTGATTATC AGTTCAGTTCAGCAAACATTTACTGAACATTGACTC	A A	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	292	0.0034	-185	c.572 others(17): Show c.572-7426_572-7242del		F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	4/14						chr6	TogoVar
F13A1_chr6_6139084_6325662	6261580	GCCCTCCA others(178): Show GCCCTCCAGGTGATTCTGATGTGTTCCAAGCGTGGTGACCCTCCAGGTGA TTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTC CAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGAC CCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02896.hp2 HG03195.hp2 others(4): Show HG02040.hp1 HG02896.hp2 HG03195.hp2 NA18612.hp2 NA18977.hp1 NA18986.hp2 NA19077.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0002 a0001c0001t0004 a0002c0002t0001 others(3): Show a0001c0001t0002 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0013 a0003c0003t0004	a0001c0001t0002g0136 a0001c0001t0004g0153 a0002c0002t0001g0143 others(4): Show a0001c0001t0002g0136 a0001c0001t0004g0153 a0002c0002t0001g0143 a0002c0002t0001g0193 a0002c0002t0002g0100 a0002c0002t0013g0200 a0003c0003t0004g0209	7	292	0.0240	-185	c.571 others(17): Show c.571+4793_571+4977del		F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	4/14						chr6	TogoVar

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