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
DHRS12_chr13_51762993_51809163	51774920	CCTACATG others(329): Show CCTACATGTATTCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCC TACAGTATTCTCCTACATGTATTCTCCTACAGTACATGTATTCTCCTACA GTATTCTCCTACAGTATTCTCCTACATGTATTCTCCTACAGTATTCTCCT ACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATTCTCC TACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTATT CTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTATTCTC CTACATGTATTCTACAGTATTCTCCTACAGTATTCTA	C C	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG06807.hp1 HG01346.hp2 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0214 a0002c0002t0001g0191 a0001c0001t0002g0214 a0002c0002t0001g0191	2	420	0.0048	-336	c.364 others(16): Show c.364-1222_364-887del		DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8						chr13	TogoVar
DHRS12_chr13_51762993_51809163	51775145	CCTACAGT others(329): Show CCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACAGTATTCT CCTACATGTATTCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCC TACAGTATTCTACTACATGTATTCTCCTACAGTACATGTATTCTCCTACA GTATTCTCCTACAGTATTCTCCTACATGTATTCTCCTACAGTATTCTCCT ACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATTCTCC TACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTATT CTACAGTATTCTCCTACAGTATTCTCCTACATGTATT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00738.hp1 others(54): Show HG00099.hp2 HG00280.hp1 HG00738.hp1 HG01069.hp1 HG01123.hp2 HG01168.hp1 HG01192.hp1 HG01346.hp1 HG01516.hp2 HG01517.hp2 HG01952.hp2 HG02056.hp1 HG02071.hp1 HG02165.hp2 HG02523.hp2 HG02683.hp1 HG02738.hp1 HG03017.hp2 HG03491.hp1 HG03669.hp2 HG03831.hp2 HG03927.hp2 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18944.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18957.hp2 NA18964.hp2 NA18966.hp1 NA18969.hp1 NA18971.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18980.hp1 NA18990.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19012.hp1 NA19055.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19063.hp1 NA19068.hp1 NA19077.hp2 NA19078.hp2 NA19085.hp2 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0010 others(38): Show a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0140 a0001c0001t0001g0153 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0219 a0001c0001t0001g0233 a0001c0001t0001g0322 a0003c0003t0001g0032 a0003c0003t0001g0170	57	420	0.1357	-336	c.364 others(17): Show c.364-1447_364-1112del		DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8						chr13	TogoVar
DOC2B_chr17_137789_186650	166829	CATGGTCT others(329): Show CATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCA TGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATG GTCTGACACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGT CTGACACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCT GACACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGA CACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACA CTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTG	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0031 a0001c0002t0031	a0001c0002t0031g0203 a0001c0002t0031g0203	1	339	0.0030	-336	c.454 others(17): Show c.454-2961_454-2626del		DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8						chr17	TogoVar
DOC2B_chr17_137789_186650	168091	CTTCTTGA others(329): Show CTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTCT TCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTC TTGAGGTAGTGAATACGTCTCACGAGATCTGATGGTCTGACACTGTTCTT GAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGA GGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGG TAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTA GTGAATACGTCTCACGAGATCTCATGGTCTGACACTG	C C	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	339	0.0030	-336	c.453 others(17): Show c.453+4110_454-3888del		DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8						chr17	TogoVar
EDDM13_chr19_56267748_56315454	56306384	CGCCAGAG others(329): Show CGCCAGAGAAAGTACTAAGGACAGATGGGAGACTTCTCTTCCCTCGGTAT CTGCAAAGAGGGTCCCCCCCGGCCTCTCCCCTGTTGCCAGAGAAAGTACT AAGGACAGATGGGAGATTTCTCTTCCCTTGATAGCTACAAAGAGGCTCCT CCCTGGCTTCTCCCACGTCGCCAGAGAAAGTACTAAGGACAGATGGGAGA TTTCTCTTCCCTTGATAGCTACAAAGAGGCTCCTCCCTGGCCTCTCCCAC GTCGCCAGAGAAAGTACTAAGGACAGATGGGAGACTTCTCTTCCCTCGGT ATCTGCAAAGAGGGTCCCCCCCGGCCTCTCCCCTGTT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	2	396	0.0051	-336	c.461 others(17): Show c.461+1586_461+1921del		EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	14/14					INFO_REALIGN_3_PRIME	chr19	TogoVar
GALNT9_chr12_132191372_132334589	132231787	TACACACT others(329): Show TACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCA CACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACA CACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACA CTCGATGGGGCGACAGAGGAGACAGCATGGAGTCCCTAGTGCCACACACT CGATGGGGCGACAGAGGAGACAGTGTGGAGTCCCTACTGCCACACACTCG ATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAGTGCCACACACTCGAT GGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0025 a0001c0002t0001g0025	1	183	0.0055	-336	c.107 others(21): Show c.1077+15787_1077+16122del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132233357	CCCCTAGT others(329): Show CCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCC CCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCC TAGTGCCACACACTCGATGGCGTGAGAGAGGAGACAGCGTGGAGTCCCTA GTGCCACACACTCGATGGGGTGACAGAGGAGACAGTGTGGAGCCCCTAGT GCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTGGTGC CACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCA CACACTCGATGGCGTGAGAGAGGAGACAGCGTGGAGT	C C	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0034 a0001c0002t0001g0034	1	183	0.0055	-336	c.107 others(21): Show c.1077+14217_1077+14552del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132233495	GTGGAGTC others(329): Show GTGGAGTCCCTAGTGCCACACACTCGATGGGGTGACAGAGGAGACAGTGT GGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGG AGTCCCTGGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAG TCCCTAGTGCCACACACTCGATGGCGTGAGAGAGGAGACAGCGTGGAGTC CCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCC TAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTA GTGCCACACACTCGATGGGGCGACAGAGGAGACAGCA	G G	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0152 a0001c0002t0001g0152	1	183	0.0055	-336	c.107 others(21): Show c.1077+14079_1077+14414del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132233527	TGACAGAG others(329): Show TGACAGAGGAGACAGTGTGGAGCCCCTAGTGCCACACACTCGATGGGGCG ACAGAGGAGACAGCGTGGAGTCCCTGGTGCCACACACTCGATGGGGCGAC AGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGCGTGAGAG AGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAG GAGACAGCGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGA GACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGA CAGCATGGAGTCCCTAGTGCCACACACTCGATGGGGC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0006 a0001c0003t0001g0006	1	183	0.0055	-336	c.107 others(21): Show c.1077+14047_1077+14382del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132233866	CAGAGGAG others(329): Show CAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACA GAGGAGACAGTGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGA GGAGACAGCGTGGAGTCCCTGGTGCCACACACTCGATGGGGCGACAGAGG AGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGCGTGAGAGAGGAG ACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGAC AGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAG CGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGAC	C C	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0163 a0001c0002t0001g0163	1	183	0.0055	-336	c.107 others(21): Show c.1077+13708_1077+14043del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132234221	TCCCTAGT others(329): Show TCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTC CCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCC TAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTA GTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGT GCCACACACTCGATGGGGCGACAGAGGAGACAGCATGGAGTCCCTAGTGC CACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCA CACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0006 a0001c0003t0001g0006	1	183	0.0055	-336	c.107 others(21): Show c.1077+13353_1077+13688del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GEMIN4_chr17_739421_757264	755432	GTCTGCCC others(329): Show GTCTGCCCGCTCCTTTCACTGTAACATGTAGATTTGGTGAGCACTAAATG TAGATTTACTGAGCTGAATGCATAACTGAGTGTTCCTCTGCCCGCTCCTT TCACTGTAACATGTAGAGTTGGTGAGCGCTAAATGTAGATTTACTGAGCT GAATGCAAAACTGACTGTTCCTCTGCCTGCTCCTTTCACTGTAACATGTA GATTTGGTGAGTGCTAAATGTAGACTTACTGAGCTGAATGCGTAACTGTT CCTCTGCCCGCTCCTTTCACTGTAACATGTAGATTTGGTGAGCACTAAAT GTAGATTTACTGAGCTGAATGCAAAACTGACTGTTCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG01123.hp2 HG02135.hp2 others(17): Show HG00733.hp2 HG01123.hp2 HG02135.hp2 HG02451.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02896.hp2 HG02965.hp1 HG03041.hp2 HG03486.hp1 NA18747.hp2 NA18943.hp1 NA18955.hp1 NA18960.hp2 NA18984.hp1 NA18989.hp2 NA18994.hp1 NA18997.hp1 NA19010.hp2	a0001 a0004 a0006 others(3): Show a0001 a0004 a0006 a0018 a0021 a0032	a0001c0001 a0004c0003 a0006c0008 others(4): Show a0001c0001 a0004c0003 a0006c0008 a0006c0013 a0018c0017 a0021c0025 a0032c0044	a0001c0001t0001 a0001c0001t0008 a0004c0003t0004 others(5): Show a0001c0001t0001 a0001c0001t0008 a0004c0003t0004 a0006c0008t0001 a0006c0013t0001 a0018c0017t0001 a0021c0025t0001 a0032c0044t0001	a0001c0001t0001g0023 a0001c0001t0008g0087 a0004c0003t0004g0089 others(6): Show a0001c0001t0001g0023 a0001c0001t0008g0087 a0004c0003t0004g0089 a0006c0008t0001g0010 a0006c0013t0001g0016 a0018c0017t0001g0056 a0018c0017t0001g0057 a0021c0025t0001g0088 a0032c0044t0001g0058	20	434	0.0461	-336	c.-36 others(11): Show c.-3626_-3291del		GEMIN4	ENSG00000179409.11	transcript	ENST00000319004.6	protein_coding					3169		chr17	TogoVar
GLOD4_chr17_754330_787280	755432	GTCTGCCC others(329): Show GTCTGCCCGCTCCTTTCACTGTAACATGTAGATTTGGTGAGCACTAAATG TAGATTTACTGAGCTGAATGCATAACTGAGTGTTCCTCTGCCCGCTCCTT TCACTGTAACATGTAGAGTTGGTGAGCGCTAAATGTAGATTTACTGAGCT GAATGCAAAACTGACTGTTCCTCTGCCTGCTCCTTTCACTGTAACATGTA GATTTGGTGAGTGCTAAATGTAGACTTACTGAGCTGAATGCGTAACTGTT CCTCTGCCCGCTCCTTTCACTGTAACATGTAGATTTGGTGAGCACTAAAT GTAGATTTACTGAGCTGAATGCAAAACTGACTGTTCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG01123.hp1 HG02135.hp2 others(16): Show HG00733.hp2 HG01123.hp1 HG02135.hp2 HG02451.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02896.hp1 HG02965.hp1 HG03041.hp2 HG03486.hp1 NA18747.hp2 NA18943.hp2 NA18960.hp1 NA18968.hp2 NA18989.hp2 NA18994.hp2 NA19010.hp1 NA19083.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0002 a0002c0002t0008	a0001c0001t0001g0052 a0001c0001t0001g0296 a0001c0001t0001g0297 others(13): Show a0001c0001t0001g0052 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0004g0031 a0002c0002t0002g0051 a0002c0002t0002g0301 a0002c0002t0002g0302 a0002c0002t0002g0303 a0002c0002t0002g0304 a0002c0002t0002g0305 a0002c0002t0002g0307 a0002c0002t0002g0308 a0002c0002t0002g0309 a0002c0002t0002g0310 a0002c0002t0008g0306	19	420	0.0452	-336	c.44 others(11): Show c.4405_*4740del		GLOD4	ENSG00000167699.14	transcript	ENST00000301329.11	protein_coding					3897		chr17	TogoVar
IBA57_chr1_228160804_228187257	228174176	GCTGTGGG others(329): Show GCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGC TGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTG TGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTG GGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGG CGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCG TGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTG GCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCC	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01243.hp2 HG02004.hp2 others(5): Show HG00738.hp2 HG01243.hp2 HG02004.hp2 HG02818.hp2 HG02976.hp1 NA19043.hp1 NA19068.hp2 NA20805.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0004 a0002c0002t0003 a0003c0003t0002 others(1): Show a0001c0001t0004 a0002c0002t0003 a0003c0003t0002 a0003c0003t0008	a0001c0001t0004g0134 a0001c0001t0004g0139 a0002c0002t0003g0160 others(4): Show a0001c0001t0004g0134 a0001c0001t0004g0139 a0002c0002t0003g0160 a0003c0003t0002g0050 a0003c0003t0002g0051 a0003c0003t0002g0075 a0003c0003t0008g0051	8	416	0.0192	-336	c.342 others(15): Show c.342-512_342-177del		IBA57	ENSG00000181873.13	transcript	ENST00000366711.4	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr1	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406031	GTGTCACT others(329): Show GTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGT GTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCC TTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCT CAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGT CTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACA TCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCT GTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01109.hp1 HG01884.hp1 HG02486.hp1 others(4): Show HG01109.hp1 HG01884.hp1 HG02486.hp1 HG02886.hp1 NA19030.hp1 NA20129.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0032 a0001c0001t0049 a0001c0001t0003 a0001c0001t0032 a0001c0001t0049	a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0156 others(2): Show a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0156 a0001c0001t0032g0220 a0001c0001t0049g0239	7	276	0.0254	-336	c.46 others(9): Show c.467_*802del		ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7				467		chr2	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406116	CGTCTTCC others(329): Show CGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTG ACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACC TCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAG TGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTC ACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTG TTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAG TGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01109.hp2 HG01884.hp2 HG01891.hp2 others(13): Show HG01109.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG02145.hp1 HG02258.hp2 HG02273.hp2 HG02451.hp2 HG02486.hp2 HG02630.hp1 HG02897.hp2 HG02922.hp1 HG03225.hp1 HG03490.hp1 NA18906.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0051 a0001c0001t0110 others(2): Show a0001c0001t0001 a0001c0001t0051 a0001c0001t0110 a0001c0001t0114 a0001c0001t0127	a0001c0001t0001g0001 a0001c0001t0001g0152 a0001c0001t0001g0153 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0238 a0001c0001t0051g0054 a0001c0001t0110g0120 a0001c0001t0114g0078 a0001c0001t0127g0045	16	276	0.0580	-336	c.38 others(9): Show c.382_*717del		ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7				382		chr2	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406172	AGTCTTCC others(329): Show AGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTG ACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACC TCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAG TGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTC ACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTG TTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAG TGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01934.hp1 HG03486.hp2 HG01934.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0234 a0001c0001t0024 a0001c0001t0234	a0001c0001t0024g0161 a0001c0001t0234g0249 a0001c0001t0024g0161 a0001c0001t0234g0249	2	276	0.0073	-336	c.32 others(9): Show c.326_*661del		ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7				326		chr2	TogoVar
KCNAB1_chr3_156115578_156543605	156395245	CAAAATCA others(329): Show CAAAATCAGACATTGTTAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCAGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03139.hp2 HG02572.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0002 a0001c0001t0004 a0001c0002t0002	a0001c0001t0004g0059 a0001c0002t0002g0060 a0001c0001t0004g0059 a0001c0002t0002g0060	2	124	0.0161	-336	c.276 others(19): Show c.276-26353_276-26018del		KCNAB1	ENSG00000169282.19	transcript	ENST00000490337.6	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr3	TogoVar
LRRC27_chr10_132327193_132386508	132358699	GTAGAGCA others(329): Show GTAGAGCAGTGTGGGGAGGAGCCAAGGTGGTGGAGCAGCGTGGGGAGGAG CCGAGGTGATGGAGCAGTGTGGGGAGGAGCCGAGGTGGTGGAGTGTGGGG AGGAGCCGAGGTGGTGGAGCGTGGGAAGGAGCCGAGCTGGTGGAGCAGCG TAGGGAGGAGCCGAGGTGGTGGAGCAGTGTGGGGAGGAGCCGAGGTGGTG GAGCAGTGTGGGGAGGAGCCGAGGTGGTAGAGCAGTGTGGGGAGGAGCCA AGGTGGTGGAGTGTGGGGAGGAGCCGAGGTGGTGGAGCGTGGGAAGGAGC CGAGGTGGTGGAGCAGCGTGGGGAGGAGCCGAGGTGA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0256 a0001c0002t0003g0256	1	290	0.0035	-336	c.117 others(19): Show c.1171-2756_1171-2421del		LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
LSG1_chr3_194635791_194677191	194663356	CCCTTTCC others(329): Show CCCTTTCCCTTCTTCCGCCTCAGAGAAAGCCTTTCCCTTCTTCCGCCTCA GAGAAAGCCTTTCCCTTCTTCCGCCTCAGAGAAAGCCTTTCCCTTCTTCC GCCTCAGAGAAAGCCTTTCCCTTCTTCCGCCTCAGAGAAAGCCTTTCCCT TCTTCCGCCTCAGAGAAAGCCTTTCCCTTCTTCCGCCTCAGAGAAAGCCT TTCCCTTCTTCCGCCTCAGAGAAAGCCTTTCCCTTCTTCCGCCTCAGAGA AAGCCTTTCCCTTCTTCCGCCTCAGAGAAAGCCTTTCCCTTCTTCCGCCT CAGAGAAAGCCTTTCCCTTCTTCCGCCTCAGAGAAAG	C C	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0125 a0001c0001t0010g0125	1	408	0.0025	-336	c.521 others(17): Show c.521+1865_521+2200del		LSG1	ENSG00000041802.11	transcript	ENST00000265245.10	protein_coding	5/13						chr3	TogoVar
MAD1L1_chr7_1810795_2237945	1991285	ACCGCTGG others(329): Show ACCGCTGGGTGCCTGAGCACCCGCCCCACCAGAGCGCCACTGCTGGCCTC ACGAGCACCGCTGGGTGCCTGAGCACCCGCCCCACCAGAGCGCCACTGCT GGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCCGCCCCACCAGAGCGCC ACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCCGCCCCACCAG AGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCTGCCC CACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCAC CTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02109.hp2 HG02257.hp2 others(4): Show HG01099.hp1 HG02109.hp2 HG02257.hp2 HG02818.hp1 HG02895.hp2 HG02922.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0082 a0001c0003t0001g0063 a0001c0003t0001g0064 others(4): Show a0001c0001t0001g0082 a0001c0003t0001g0063 a0001c0003t0001g0064 a0001c0003t0001g0068 a0001c0003t0001g0069 a0001c0003t0001g0070 a0001c0003t0001g0071	7	264	0.0265	-336	c.141 others(21): Show c.1416+10444_1417-10745del		MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	14/18						chr7	TogoVar
MAMLD1_chrX_150358317_150519173	150382868	TTGTCCCA others(329): Show TTGTCCCATTTTATTTTATTTTTTTTTTTTTTTATTTTTTATTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGC GATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGG CTAATTTCTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGG ATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00423.hp1 others(109): Show HG00099.hp1 HG00323.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00609.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01106.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01358.hp1 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01978.hp2 HG02027.hp1 HG02055.hp1 HG02109.hp1 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03704.hp2 HG03927.hp1 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18945.hp1 NA18975.hp1 NA18982.hp1 NA18984.hp1 NA19004.hp1 NA19011.hp2 NA19043.hp1 NA19057.hp2 NA19060.hp1 NA19064.hp2 NA19076.hp1 NA19082.hp1 NA19083.hp1 NA19088.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0010	a0001c0001 a0001c0006 a0002c0002 others(7): Show a0001c0001 a0001c0006 a0002c0002 a0002c0012 a0003c0003 a0004c0004 a0005c0005 a0006c0011 a0009c0009 a0010c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0006t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0011 a0002c0012t0002 a0003c0003t0002 a0004c0004t0001 a0004c0004t0003 a0005c0005t0001 a0005c0005t0002 a0006c0011t0002 a0009c0009t0001 a0010c0007t0002	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0015 others(109): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0099 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0224 a0001c0001t0002g0049 a0001c0001t0002g0066 a0001c0001t0002g0072 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0120 a0001c0001t0002g0144 a0001c0001t0002g0146 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0163 a0001c0001t0002g0178 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0198 a0001c0001t0003g0058 a0001c0001t0003g0174 a0001c0001t0003g0196 a0001c0001t0004g0112 a0001c0001t0004g0148 a0001c0001t0004g0209 a0001c0001t0005g0010 a0001c0001t0005g0197 a0001c0001t0005g0223 a0001c0001t0007g0211 a0001c0001t0009g0045 a0001c0001t0013g0121 a0001c0001t0014g0122 a0001c0001t0016g0101 a0001c0001t0018g0018 a0001c0006t0002g0012 a0001c0006t0002g0027 a0002c0002t0001g0001 a0002c0002t0001g0011 a0002c0002t0001g0019 a0002c0002t0001g0025 a0002c0002t0001g0039 a0002c0002t0001g0047 a0002c0002t0001g0204 a0002c0002t0001g0207 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0225 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0005g0140 a0002c0002t0005g0219 a0002c0002t0011g0133 a0002c0012t0002g0038 a0003c0003t0002g0134 a0003c0003t0002g0157 a0004c0004t0001g0059 a0004c0004t0003g0040 a0004c0004t0003g0095 a0004c0004t0003g0098 a0004c0004t0003g0125 a0004c0004t0003g0149 a0004c0004t0003g0150 a0005c0005t0001g0183 a0005c0005t0002g0173 a0006c0011t0002g0014 a0009c0009t0001g0024 a0010c0007t0002g0037	112	226	0.4956	-336	c.-64 others(19): Show c.-64+19351_-64+19686del		MAMLD1	ENSG00000013619.15	transcript	ENST00000370401.7	protein_coding	1/7					INFO_REALIGN_3_PRIME	chrX	TogoVar
MED8_chr1_43378917_43394800	43391784	TAAAAAAA others(329): Show TAAAAAAATGAAACAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAAAACGGTGAAACCCTGTCTCTACTAAAAAAAATACAAAAA ATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCTG AGATTGTGCCACTGCAGTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00408.hp2 others(219): Show HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04228.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18957.hp1 NA18959.hp2 NA18962.hp1 NA18963.hp1 NA18966.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18975.hp1 NA18978.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19003.hp1 NA19004.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19058.hp1 NA19059.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19074.hp1 NA19077.hp1 NA19078.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0002c0004 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0002t0001 a0001c0005t0002 a0002c0004t0002 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(19): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0003g0003 a0001c0001t0003g0008 a0001c0001t0003g0012 a0001c0001t0003g0028 a0001c0001t0004g0004 a0001c0001t0004g0014 a0001c0001t0006g0020 a0001c0001t0007g0021 a0001c0001t0008g0022 a0001c0001t0009g0023 a0001c0001t0010g0024 a0001c0002t0001g0007 a0001c0005t0002g0033 a0002c0004t0002g0029 a0003c0003t0001g0015	222	382	0.5812	-336	c.-23 others(11): Show c.-2356_-2021del		MED8	ENSG00000159479.17	transcript	ENST00000372457.9	protein_coding					1985		chr1	TogoVar
MOV10L1_chr22_50085006_50166687	50147175	GGCAGGCC others(329): Show GGCAGGCCGCTCTCTCAGAGGCACTCTGTGCAGAAGCAGGGAGGGTGCTG CAGGCCGCTCTCTCAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCTGCA GGCCGCTCTCTCAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCTGCAGG CCGCTCTCTCAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCTGCAGGCC GCTCTCTCAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCTGCAGGCCGC TCTCTCAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCTGCAGGCCGCTC TCTCAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01981.hp2 HG02257.hp2 others(2): Show HG00323.hp1 HG01981.hp2 HG02257.hp2 HG02683.hp2 HG03209.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0030 a0003c0003 a0003c0012 others(1): Show a0001c0030 a0003c0003 a0003c0012 a0006c0006	a0001c0030t0001 a0003c0003t0002 a0003c0012t0002 others(1): Show a0001c0030t0001 a0003c0003t0002 a0003c0012t0002 a0006c0006t0001	a0001c0030t0001g0145 a0003c0003t0002g0347 a0003c0003t0002g0360 others(2): Show a0001c0030t0001g0145 a0003c0003t0002g0347 a0003c0003t0002g0360 a0003c0012t0002g0326 a0006c0006t0001g0222	5	400	0.0125	-336	c.262 others(19): Show c.2627+1387_2627+1722del		MOV10L1	ENSG00000073146.17	transcript	ENST00000262794.10	protein_coding	19/26					INFO_REALIGN_3_PRIME	chr22	TogoVar
MOV10L1_chr22_50085006_50166687	50147197	ACTCTGTG others(329): Show ACTCTGTGCAGAAGCAGGGAGGGTGCTGCAGGCCGCTCTCTCAGAGGCGC TCTGTGCAGAAGCAGGGAGGGTGCTGCAGGCCGCTCTCTCAGAGGCGCTC TGTGCAGAAGCAGGGAGGGTGCTGCAGGCCGCTCTCTCAGAGGCGCTCTG TGCAGAAGCAGGGAGGGTGCTGCAGGCCGCTCTCTCAGAGGCGCTCTGTG CAGAAGCAGGGAGGGTGCTGCAGGCCGCTCTCTCAGAGGCGCTCTGTGCA GAAGCAGGGAGGGTGCTGCAGGCCGCTCTCTCAGAGGCGCTCTGTGCAGA AGCAGGGAGGGTGCTGCAGGCCGCTCTCTCAGAGGCG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03098.hp2 NA20129.hp1 HG02965.hp1 HG03098.hp2 NA20129.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0168 a0001c0005t0001g0180 a0001c0005t0001g0181 a0001c0005t0001g0168 a0001c0005t0001g0180 a0001c0005t0001g0181	3	400	0.0075	-336	c.262 others(19): Show c.2627+1466_2627+1801del		MOV10L1	ENSG00000073146.17	transcript	ENST00000262794.10	protein_coding	19/26					INFO_REALIGN_3_PRIME	chr22	TogoVar
MUC4_chr3_195741771_195816929	195779601	TACTGAGG others(329): Show TACTGAGGAAGTGTCGGTGACAGGAAGGGGGGTGGCGTGACCTGTGGATG CTGAGGAACGGCTGGTGACAGGAAGAGAGGTGGCGTGACCTGTGGATACT GAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGA GGAAGTGCTGGTGACAGGAAGAGGGGTGGCATGTCCTGTGGATGCCGAGG AAACGTCGGTGACAGGAAGACGGGTGGTGTCATCTGTGGAAGCTGAGGAA GTGTCGGTGACAGGAAGAGGGGTGGCGTGACGTGTGGATGCTGAGGAAGT GTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGAA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG02015.hp1 HG02040.hp2 others(9): Show HG00099.hp1 HG02015.hp1 HG02040.hp2 HG02145.hp1 HG03688.hp2 HG03942.hp2 HG04199.hp2 NA18948.hp1 NA18979.hp2 NA18982.hp1 NA18998.hp1 NA19086.hp1	a0011 a0024 a0025 others(5): Show a0011 a0024 a0025 a0076 a0119 a0148 a0156 a0170	a0011c0008 a0011c0028 a0024c0012 others(6): Show a0011c0008 a0011c0028 a0024c0012 a0025c0010 a0076c0168 a0119c0078 a0148c0073 a0156c0106 a0170c0110	a0011c0008t0001 a0011c0028t0001 a0024c0012t0001 others(6): Show a0011c0008t0001 a0011c0028t0001 a0024c0012t0001 a0025c0010t0001 a0076c0168t0001 a0119c0078t0001 a0148c0073t0001 a0156c0106t0001 a0170c0110t0001	a0011c0008t0001g0058 a0011c0008t0001g0059 a0011c0028t0001g0057 others(9): Show a0011c0008t0001g0058 a0011c0008t0001g0059 a0011c0028t0001g0057 a0024c0012t0001g0114 a0024c0012t0001g0156 a0025c0010t0001g0078 a0025c0010t0001g0141 a0076c0168t0001g0082 a0119c0078t0001g0099 a0148c0073t0001g0150 a0156c0106t0001g0144 a0170c0110t0001g0103	12	249	0.0482	-336	c.116 others(11): Show c.11643_11978del	p.Ser others(15): Show p.Ser3882_Val3993del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	12090/16756	11643/16239	3881/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195782080	GTGGCCTG others(329): Show GTGGCCTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGT GGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGCGGTGG CCTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTG TGACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTC ACCTGTGGATACTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCGTGAC CTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGCGGGGTGGCGTGACCG GTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG02015.hp1 HG02040.hp2 others(8): Show HG00099.hp1 HG02015.hp1 HG02040.hp2 HG02145.hp1 HG02895.hp2 HG04199.hp2 NA18948.hp1 NA18979.hp2 NA18982.hp1 NA18998.hp1 NA19086.hp1	a0011 a0024 a0074 others(5): Show a0011 a0024 a0074 a0076 a0119 a0148 a0156 a0170	a0011c0008 a0011c0028 a0024c0012 others(6): Show a0011c0008 a0011c0028 a0024c0012 a0074c0167 a0076c0168 a0119c0078 a0148c0073 a0156c0106 a0170c0110	a0011c0008t0001 a0011c0028t0001 a0024c0012t0001 others(6): Show a0011c0008t0001 a0011c0028t0001 a0024c0012t0001 a0074c0167t0001 a0076c0168t0001 a0119c0078t0001 a0148c0073t0001 a0156c0106t0001 a0170c0110t0001	a0011c0008t0001g0058 a0011c0008t0001g0059 a0011c0028t0001g0057 others(8): Show a0011c0008t0001g0058 a0011c0008t0001g0059 a0011c0028t0001g0057 a0024c0012t0001g0114 a0024c0012t0001g0156 a0074c0167t0001g0067 a0076c0168t0001g0082 a0119c0078t0001g0099 a0148c0073t0001g0150 a0156c0106t0001g0144 a0170c0110t0001g0103	11	249	0.0442	-336	c.916 others(9): Show c.9164_9499del	p.Asn others(15): Show p.Asn3055_Ala3166del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	9611/16756	9164/16239	3055/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195782255	TAGTGACA others(329): Show TAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCTG GTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGT GACAGGAAGCGGGGTGGCGTGACCGGTGGATGCTGAGGAAGGGCTGGTGA CATGAAGAGGGTTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACA GGAAGCGGGGTGGCGTGACCGGTGGATGCTGAGGAAGGGCTGGTGACATG AAGAGGGGTGGCGTGACCTGTGGATATTGAGGAAGTGTCGGTGACAGGAA GAGAGGTGGCGTGACCTATGGATGCTGAGGAAGTGTC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02486.hp2 HG02647.hp1 HG03209.hp1 HG02486.hp2 HG02647.hp1 HG03209.hp1	a0034 a0035 a0037 a0034 a0035 a0037	a0034c0152 a0035c0151 a0037c0149 a0034c0152 a0035c0151 a0037c0149	a0034c0152t0014 a0035c0151t0007 a0037c0149t0006 a0034c0152t0014 a0035c0151t0007 a0037c0149t0006	a0034c0152t0014g0185 a0035c0151t0007g0186 a0037c0149t0006g0079 a0034c0152t0014g0185 a0035c0151t0007g0186 a0037c0149t0006g0079	3	249	0.0121	-336	c.898 others(9): Show c.8989_9324del	p.Asp others(15): Show p.Asp2997_Thr3108del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	9436/16756	8989/16239	2997/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195783327	GGTGGTGT others(329): Show GGTGGTGTCACCTGTGGATACTGAGGAAGTCTCGGTGACAAGAAGAGGGG TGGTGTCACCTGTGGATGATGAGGAAGTGTCGGTGACAGGAAGAGAGGTG GTGTCACCTGTGTATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGT GTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCAT GACCGGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCA CCTGTGGATACTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCCTGACC TGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00280.hp2 HG00280.hp2	a0178 a0178	a0178c0034 a0178c0034	a0178c0034t0002 a0178c0034t0002	a0178c0034t0002g0194 a0178c0034t0002g0194	1	249	0.0040	-336	c.791 others(9): Show c.7917_8252del	p.Pro others(15): Show p.Pro2640_Thr2751del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	8364/16756	7917/16239	2639/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195783503	CGGTGACA others(329): Show CGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTA GTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCTGGT GACAGGAAGAGGGGTGGCCTGACCTGTGGATGCTGAGGAAGCGTCGGTGA CAAGAAGAGGAGTGGCGTGACCTGTGGATGCTGAGGAAGGGCTAGTGACA GGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCTGGTGACAGG AAGAGGGGTGGCCTGACCTGTGGATGCTGAGTAAGTGTCGGTGACAGGAA GAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00323.hp1 HG00423.hp2 HG00733.hp2 others(41): Show HG00323.hp1 HG00423.hp2 HG00733.hp2 HG01069.hp2 HG01081.hp1 HG01123.hp2 HG01256.hp2 HG01258.hp1 HG01361.hp1 HG01496.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02027.hp2 HG02071.hp2 HG02074.hp1 HG02273.hp2 HG02293.hp1 HG02523.hp2 HG02602.hp2 HG02698.hp2 HG03492.hp2 HG03669.hp2 HG03710.hp2 HG03831.hp1 HG04199.hp1 HG04228.hp1 NA18947.hp1 NA18948.hp2 NA18954.hp2 NA18959.hp2 NA18960.hp2 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18980.hp1 NA18988.hp2 NA18999.hp1 NA19003.hp2 NA19055.hp1 NA19066.hp2 NA19081.hp1 NA19086.hp2	a0001 a0003 a0006 others(17): Show a0001 a0003 a0006 a0012 a0013 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0038 a0041 a0042 a0043 a0044 a0045 a0103 a0109	a0001c0001 a0001c0157 a0001c0158 others(20): Show a0001c0001 a0001c0157 a0001c0158 a0003c0003 a0006c0019 a0006c0131 a0012c0020 a0013c0021 a0027c0136 a0028c0137 a0029c0138 a0030c0135 a0031c0133 a0032c0134 a0033c0132 a0038c0163 a0041c0156 a0042c0159 a0043c0160 a0044c0153 a0045c0155 a0103c0121 a0109c0043	a0001c0001t0002 a0001c0157t0002 a0001c0158t0006 others(20): Show a0001c0001t0002 a0001c0157t0002 a0001c0158t0006 a0003c0003t0002 a0006c0019t0002 a0006c0131t0002 a0012c0020t0002 a0013c0021t0002 a0027c0136t0002 a0028c0137t0002 a0029c0138t0002 a0030c0135t0002 a0031c0133t0002 a0032c0134t0002 a0033c0132t0002 a0038c0163t0002 a0041c0156t0002 a0042c0159t0002 a0043c0160t0002 a0044c0153t0001 a0045c0155t0002 a0103c0121t0002 a0109c0043t0002	a0001c0001t0002g0001 a0001c0001t0002g0028 a0001c0001t0002g0029 others(40): Show a0001c0001t0002g0001 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0157t0002g0038 a0001c0158t0006g0033 a0003c0003t0002g0010 a0003c0003t0002g0017 a0003c0003t0002g0018 a0003c0003t0002g0019 a0003c0003t0002g0022 a0006c0019t0002g0013 a0006c0019t0002g0021 a0006c0131t0002g0015 a0012c0020t0002g0011 a0012c0020t0002g0012 a0013c0021t0002g0037 a0013c0021t0002g0044 a0027c0136t0002g0026 a0028c0137t0002g0024 a0029c0138t0002g0014 a0030c0135t0002g0074 a0031c0133t0002g0009 a0032c0134t0002g0020 a0033c0132t0002g0016 a0038c0163t0002g0005 a0041c0156t0002g0023 a0042c0159t0002g0041 a0043c0160t0002g0042 a0044c0153t0001g0045 a0045c0155t0002g0025 a0103c0121t0002g0140 a0109c0043t0002g0125	44	249	0.1767	-336	c.774 others(9): Show c.7741_8076del	p.Ser others(15): Show p.Ser2581_Thr2692del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	8188/16756	7741/16239	2581/5412			chr3	TogoVar
PLCZ1_chr12_18678180_18743012	18741100	TTTACTGC others(329): Show TTTACTGCATTTACTATGCACAGACCAAGGACGGGCCTTGCCATGTAAAA AAGGTAAAAACAAACTTTCTAAAGAAAAGCAGAAAAGAAAGTTGCTCTCA TAGCACTAAAATACAGCCATCCAGTGAAGCCTTAAGCAAAAATTTGAATT GATATTATGGTTATATGTGTAAGGGTTGATTTTCCAGATCATTGCAGATT AGGACCCAGTGGTTTGTGGGATAATTACAGAGGCATTTAGCTCCTGCTTT AACATAGGGTTTTTTTAAGTAATATTTGTTGATAATTCTGAATATAAAAG TCACATGTACAAATCGTGGAAAATGCTTAAAGCATAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03486.hp1 HG03471.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0204 a0001c0001t0001g0205	2	326	0.0061	-336	c.-36 others(11): Show c.-3643_-3308del		PLCZ1	ENSG00000139151.16	transcript	ENST00000266505.12	protein_coding					3089		chr12	TogoVar
PRDM16_chr1_3064203_3443621	3165442	TGGGCTCA others(329): Show TGGGCTCAGGGACAGTGACTCACCTGGGCTCAGGGACAGTGACTCACCTG GGCTCAGGGACAGGGACTCACCTGGGCTCAGGGACAGTGACTCACCTGGG CTCAGGGACAGGGACTCACCAGGGCTCAGGGACAGGGACTCACCTGGGCC CAGGGACAGGGACTCACCTGGGCTCAGGGACAGGGACTCACCTGGGCTCA GGGACAGGGACTCACCTGGGCTCAGGGACAGTGACTCACCTGGGCCCAGG GACAGGGACTCACCTGGGCTCAGGGACAGTGACTCACCTGGGCTCAGGGA CAGTGACTCACCTGGGCCCAGGGACAGGGACTCACCA	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0126 a0001c0001t0028g0126	1	210	0.0048	-336	c.38- others(17): Show c.38-20668_38-20333del		PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
PROZ_chr13_113153648_113177386	113162392	TCATCCTC others(329): Show TCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTC CTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCT CAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCC CGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTG CCACGTCCCCTCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCC TCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCC TCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp2 others(31): Show HG00099.hp1 HG00280.hp1 HG00323.hp2 HG00544.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01074.hp2 HG01099.hp1 HG01123.hp2 HG01255.hp1 HG01261.hp1 HG01358.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01975.hp1 HG01978.hp1 HG02004.hp1 HG02109.hp1 HG02148.hp2 HG02273.hp2 HG02300.hp1 HG02738.hp1 HG03710.hp1 HG03834.hp1 HG04184.hp1 NA18990.hp1 NA19009.hp1 NA19085.hp2 NA20752.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0039 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0154	34	378	0.0900	-336	c.260 others(15): Show c.260-581_260-246del		PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr13	TogoVar
PTDSS2_chr11_445279_496399	482766	AGTTCTGT others(329): Show AGTTCTGTGAGTTTTTCGTAGATCTCCCTACCGAGTGGAGAAGGTTCTGT GAGTTTTTCGTAGATCTCCCTACCGAGTGGAGAAGTTTCTGTGAGTTTTT CGTAGATCTCCCTACCGAGTGCAGAAAGTTCTGTGAGTTTTTCGTAGATC TCCCTACCGAGTGGAGAAGGTTCTGTGAGTTTTTCGTAGATCTCCCTACC GAGTGCAGAAAGTTCTGTGAGTTTTTCGTAGATCTCCCTACCGAGTGGAG AAGGTTCTGTGAGTTTTTCGTAGATCTCCCTACCGAGTGGAGAAGGTTCT GTGAGTTTTTCGTAGATCTCCCTACCGAGTGGAGAAG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0012 a0004c0007t0012	a0004c0007t0012g0307 a0004c0007t0012g0307	1	346	0.0029	-336	c.435 others(17): Show c.435+3699_436-3753del		PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr11	TogoVar
RNF213_chr17_80255852_80403794	80314166	ATGGTGGA others(329): Show ATGGTGGAGGTGATGGTGGTGGTGAAGGTGATGGTGGAGGTAATGGAGGT GATGGTGGTGGTGAAGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTAA AGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGGACGTGATGGTGGAG GTAATGGAGGTGATGGTGGTGGTGGTGGTGGTGGAGGTACTGGAGGTGAT GGCGGTCGTGGAGGTGATGGTGGAGGTAATGGAGGTGGTGGTGGTGGTGG TGGTGGAGGTACTGGAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTG ATGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01928.hp2 NA18944.hp1 others(1): Show HG00741.hp2 HG01928.hp2 NA18944.hp1 NA20300.hp2	a0001 a0001	a0001c0004 a0001c0021 a0001c0004 a0001c0021	a0001c0004t0007 a0001c0021t0001 a0001c0021t0002 a0001c0004t0007 a0001c0021t0001 a0001c0021t0002	a0001c0004t0007g0268 a0001c0021t0001g0063 a0001c0021t0001g0080 others(1): Show a0001c0004t0007g0268 a0001c0021t0001g0063 a0001c0021t0001g0080 a0001c0021t0002g0069	4	292	0.0137	-336	c.281 others(19): Show c.2811+1010_2811+1345del		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314933	GTTGGTGG others(329): Show GTTGGTGGAGGTACTGGAGGTGATGGTGGTCGTGTAGGTGATGGTGGAGG TGATGGTGGTGGTGAAGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTG GTGAAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGAAGGTGAT GGTGGAGGTAATGGAGGTGATGGTGGTAAAGGTGATGGTGGAGGTACTGG AGGTGATGGTGGTAAAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTG GACGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGGTGGAGGT ACTGGAGGTGATGGTGGTGGACGTGATGGTGGAGGTA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA18967.hp2 NA18970.hp2 HG00597.hp1 NA18967.hp2 NA18970.hp2	a0001 a0019 a0062 a0001 a0019 a0062	a0001c0001 a0019c0142 a0062c0055 a0001c0001 a0019c0142 a0062c0055	a0001c0001t0029 a0019c0142t0030 a0062c0055t0005 a0001c0001t0029 a0019c0142t0030 a0062c0055t0005	a0001c0001t0029g0079 a0019c0142t0030g0178 a0062c0055t0005g0076 a0001c0001t0029g0079 a0019c0142t0030g0178 a0062c0055t0005g0076	3	292	0.0103	-336	c.281 others(19): Show c.2811+1767_2812-1919del		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67						chr17	TogoVar
RNF213_chr17_80255852_80403794	80314955	ATGGTGGT others(329): Show ATGGTGGTCGTGTAGGTGATGGTGGAGGTGATGGTGGTGGTGAAGGTGAT GGTGGAGGTACTGGAGGTGATGGTGGTGGTGAAGGTGATGGTGGAGGTAA TGGAGGTGATGGTGGTGGTGAAGGTGATGGTGGAGGTAATGGAGGTGATG GTGGTAAAGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTAAAGGTGAT GGTGGAGGTAATGGAGGTGATGGTGGTGGACGTGATGGTGGAGGTAATGG AGGTGATGGTGGTGGTGGTGGTGGAGGTACTGGAGGTGATGGTGGTGGAC GTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0071 a0071	a0071c0131 a0071c0131	a0071c0131t0006 a0071c0131t0006	a0071c0131t0006g0010 a0071c0131t0006g0010	1	292	0.0034	-336	c.281 others(19): Show c.2811+1795_2812-1891del		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPH3AL_chr17_207389_357807	272967	TGAGACCC others(329): Show TGAGACCCCAGCAAGGGCTACGTCAGGGTGAGACCCCAGCGAGGGCGACA TCAGGAAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGG GCGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCA GCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGTGATGTCAGGGTGAG ACCCCAGCGCGGGTGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAG GGTGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGTGA CGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01192.hp1 HG01258.hp2 others(26): Show HG00280.hp1 HG01192.hp1 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01978.hp2 HG02027.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02148.hp1 HG02165.hp1 HG02698.hp2 HG03017.hp2 HG04184.hp1 HG04184.hp2 NA18947.hp1 NA18959.hp2 NA18963.hp1 NA18983.hp2 NA18993.hp1 NA18995.hp1 NA18999.hp1 NA19003.hp2 NA19005.hp1 NA19056.hp1 NA19074.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0002c0005 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020 a0001c0001t0024 a0001c0001t0025 a0001c0001t0032 a0001c0002t0001 a0001c0002t0003 a0001c0002t0007 a0001c0004t0001 a0002c0005t0005 a0006c0009t0001	a0001c0001t0001g0047 a0001c0001t0001g0115 a0001c0001t0001g0124 others(26): Show a0001c0001t0001g0047 a0001c0001t0001g0115 a0001c0001t0001g0124 a0001c0001t0002g0031 a0001c0001t0002g0061 a0001c0001t0002g0111 a0001c0001t0002g0116 a0001c0001t0003g0034 a0001c0001t0003g0051 a0001c0001t0004g0039 a0001c0001t0011g0007 a0001c0001t0012g0053 a0001c0001t0013g0107 a0001c0001t0015g0041 a0001c0001t0019g0011 a0001c0001t0019g0012 a0001c0001t0020g0127 a0001c0001t0024g0083 a0001c0001t0025g0076 a0001c0001t0032g0004 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0057 a0001c0002t0003g0033 a0001c0002t0007g0112 a0001c0004t0001g0050 a0001c0004t0001g0078 a0002c0005t0005g0035 a0006c0009t0001g0054	29	133	0.2181	-336	c.438 others(17): Show c.438+8465_438+8800del		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9						chr17	TogoVar
SBK2_chr19_55523611_55542133	55530444	AGGCCTAG others(329): Show AGGCCTAGTGTGACCTGTGAGGCCTGCGGGTTTAGTGTGGCCTAGGGTGA CCCCGTGAGGCCTAGTGTGACCTGTGAGGCCTGTGGGTTTAGTGGGGCCT AGTGTGACCTGTGAGGCCTGTGGGTTTAGTGTGGCTTAGTGTGACCCGTG AGGCCTGTGGGTTTAGTGTGGCCTAGTGTGACCCGTGAGGCCTGTGGGTT TAGTGTGGCCTAGGGTGACCCCGTGAGGCCTAGTGTGACCTGTGAGGCCT GTGGGTTTAGTGGGGCCTAGTGTGACCTGTGAGGCCTGTGGGTTTAGTGT GGCTTAGTGTGACCCGTGAGGCCTGTGGGTTTAGTGT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(316): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18940.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19083.hp2 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0000 a0001 a0002 others(6): Show a0000 a0001 a0002 a0003 a0004 a0007 a0008 a0011 a0013	a0000c0003 a0000c0017 a0001c0001 others(15): Show a0000c0003 a0000c0017 a0001c0001 a0001c0004 a0001c0006 a0001c0008 a0001c0013 a0001c0015 a0001c0020 a0001c0021 a0002c0002 a0002c0012 a0003c0005 a0004c0010 a0007c0023 a0008c0022 a0011c0014 a0013c0027	a0000c0003t0001 a0000c0003t0002 a0000c0003t0003 others(66): Show a0000c0003t0001 a0000c0003t0002 a0000c0003t0003 a0000c0003t0004 a0000c0003t0007 a0000c0003t0008 a0000c0003t0014 a0000c0003t0018 a0000c0003t0023 a0000c0003t0029 a0000c0003t0038 a0000c0017t0001 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0039 a0001c0001t0040 a0001c0001t0044 a0001c0004t0001 a0001c0004t0003 a0001c0004t0008 a0001c0004t0013 a0001c0006t0001 a0001c0008t0001 a0001c0008t0008 a0001c0013t0003 a0001c0015t0028 a0001c0020t0030 a0001c0021t0015 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0010 a0002c0002t0011 a0002c0002t0013 a0002c0002t0015 a0002c0002t0024 a0002c0012t0003 a0003c0005t0001 a0003c0005t0003 a0004c0010t0006 a0007c0023t0022 a0008c0022t0023 a0011c0014t0007 a0013c0027t0002	a0000c0003t0001g0172 a0000c0003t0001g0173 a0000c0003t0001g0224 others(208): Show a0000c0003t0001g0172 a0000c0003t0001g0173 a0000c0003t0001g0224 a0000c0003t0001g0227 a0000c0003t0001g0231 a0000c0003t0001g0235 a0000c0003t0001g0246 a0000c0003t0001g0278 a0000c0003t0002g0082 a0000c0003t0002g0085 a0000c0003t0002g0093 a0000c0003t0002g0105 a0000c0003t0002g0109 a0000c0003t0003g0128 a0000c0003t0003g0223 a0000c0003t0004g0247 a0000c0003t0007g0159 a0000c0003t0008g0262 a0000c0003t0014g0203 a0000c0003t0018g0086 a0000c0003t0023g0121 a0000c0003t0029g0063 a0000c0003t0038g0205 a0000c0017t0001g0234 a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0129 a0001c0001t0001g0135 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0165 a0001c0001t0001g0171 a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0281 a0001c0001t0001g0287 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0087 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0003g0018 a0001c0001t0003g0024 a0001c0001t0003g0034 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0116 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0130 a0001c0001t0003g0161 a0001c0001t0003g0211 a0001c0001t0003g0214 a0001c0001t0003g0225 a0001c0001t0003g0248 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0259 a0001c0001t0004g0239 a0001c0001t0005g0201 a0001c0001t0005g0288 a0001c0001t0006g0032 a0001c0001t0006g0060 a0001c0001t0006g0067 a0001c0001t0006g0068 a0001c0001t0006g0071 a0001c0001t0006g0092 a0001c0001t0007g0019 a0001c0001t0007g0049 a0001c0001t0007g0160 a0001c0001t0007g0163 a0001c0001t0008g0040 a0001c0001t0008g0238 a0001c0001t0008g0264 a0001c0001t0008g0268 a0001c0001t0009g0012 a0001c0001t0009g0015 a0001c0001t0009g0083 a0001c0001t0009g0084 a0001c0001t0010g0029 a0001c0001t0010g0069 a0001c0001t0011g0216 a0001c0001t0011g0217 a0001c0001t0011g0218 a0001c0001t0011g0258 a0001c0001t0012g0021 a0001c0001t0012g0220 a0001c0001t0012g0221 a0001c0001t0013g0213 a0001c0001t0014g0045 a0001c0001t0014g0132 a0001c0001t0015g0174 a0001c0001t0015g0177 a0001c0001t0016g0175 a0001c0001t0017g0013 a0001c0001t0018g0089 a0001c0001t0018g0090 a0001c0001t0019g0014 a0001c0001t0022g0127 a0001c0001t0022g0145 a0001c0001t0023g0119 a0001c0001t0025g0036 a0001c0001t0025g0123 a0001c0001t0026g0041 a0001c0001t0026g0179 a0001c0001t0032g0112 a0001c0001t0033g0113 a0001c0001t0034g0148 a0001c0001t0039g0167 a0001c0001t0040g0181 a0001c0001t0044g0170 a0001c0004t0001g0199 a0001c0004t0001g0237 a0001c0004t0003g0117 a0001c0004t0008g0118 a0001c0004t0013g0035 a0001c0006t0001g0046 a0001c0006t0001g0209 a0001c0006t0001g0210 a0001c0006t0001g0294 a0001c0008t0001g0137 a0001c0008t0001g0138 a0001c0008t0008g0114 a0001c0013t0003g0244 a0001c0015t0028g0056 a0001c0020t0030g0075 a0001c0021t0015g0183 a0002c0002t0001g0188 a0002c0002t0001g0190 a0002c0002t0001g0272 a0002c0002t0001g0298 a0002c0002t0002g0100 a0002c0002t0003g0025 a0002c0002t0003g0026 a0002c0002t0003g0043 a0002c0002t0003g0184 a0002c0002t0003g0185 a0002c0002t0003g0187 a0002c0002t0003g0191 a0002c0002t0003g0242 a0002c0002t0003g0269 a0002c0002t0003g0270 a0002c0002t0003g0275 a0002c0002t0003g0276 a0002c0002t0006g0065 a0002c0002t0006g0066 a0002c0002t0006g0099 a0002c0002t0006g0102 a0002c0002t0006g0103 a0002c0002t0010g0101 a0002c0002t0011g0189 a0002c0002t0011g0271 a0002c0002t0013g0273 a0002c0002t0013g0277 a0002c0002t0015g0274 a0002c0002t0024g0020 a0002c0012t0003g0243 a0003c0005t0001g0236 a0003c0005t0003g0254 a0004c0010t0006g0064 a0007c0023t0022g0212 a0008c0022t0023g0120 a0011c0014t0007g0193 a0013c0027t0002g0104	319	434	0.7350	-336	c.456 others(15): Show c.456+363_457-122del		SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding	3/3						chr19	TogoVar
SBK2_chr19_55523611_55542133	55530470	CGGGTTTA others(329): Show CGGGTTTAGTGTGGCCTAGGGTGACCCCGTGAGGCCTAGTGTGACCTGTG AGGCCTGTGGGTTTAGTGGGGCCTAGTGTGACCTGTGAGGCCTGTGGGTT TAGTGTGGCTTAGTGTGACCCGTGAGGCCTGTGGGTTTAGTGTGGCCTAG TGTGACCCGTGAGGCCTGTGGGTTTAGTGTGGCCTAGGGTGACCCCGTGA GGCCTAGTGTGACCTGTGAGGCCTGTGGGTTTAGTGGGGCCTAGTGTGAC CTGTGAGGCCTGTGGGTTTAGTGTGGCTTAGTGTGACCCGTGAGGCCTGT GGGTTTAGTGTGGCCTAGTGTGACCTGTGAGGCCTGT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA18747.hp2 NA18975.hp2 HG00597.hp1 NA18747.hp2 NA18975.hp2	a0000 a0001 a0000 a0001	a0000c0003 a0001c0001 a0000c0003 a0001c0001	a0000c0003t0003 a0001c0001t0003 a0000c0003t0003 a0001c0001t0003	a0000c0003t0003g0255 a0001c0001t0003g0162 a0001c0001t0003g0164 a0000c0003t0003g0255 a0001c0001t0003g0162 a0001c0001t0003g0164	3	434	0.0069	-336	c.456 others(15): Show c.456+337_457-148del		SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding	3/3						chr19	TogoVar
SCNN1D_chr1_1275436_1297025	1288869	CCGTGTCT others(329): Show CCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGAGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0052 a0002c0002t0001g0052	1	290	0.0035	-336	c.166 others(18): Show c.1662+834_1663-1065del		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SHC2_chr19_411589_466033	431316	CGGGCAGA others(329): Show CGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATA GAGGAGGCCAGGCAGATAGATGGCACTTCATCGTGAGTGAGATCGTGAGT GAGAGTTAGAGGAGGCCGGGCAGATGGCGCTTCATCGTGAGTGAGATCGT GAGTGAGAGATAGAGGAGGCCGGGCAGATGGCGCTTCATCGTGAGTGAGA TCGTGAGTGAGAGATAGAGGAGGCCGGGCAGATGGCGCTTCATCGTGAGT GAGATCGTGAGTGAGAGATAGAGGAGGCCGGGCAGATAGATGGCGCTTCA TCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGCG	C C	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0190 a0002c0004t0005g0190	1	212	0.0047	-336	c.111 others(17): Show c.1111-905_1111-570del		SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12						chr19	TogoVar
SMG6_chr17_2054843_2308785	2242356	CAAAAAAA others(329): Show CAAAAAAAAAAAAAAAAAAAAAAAATTAGTCGGGCATGGTGGCAGGCACC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCCG GGAGGCGGAGCTTGCAGTGAGCGGAGATCGCGCCACTGCACTCCAGCCTG GGCGACAGAGCGAGACTTCGTCTCAAAAAAAAAAGATAAATAAGCCATCT GTGGTGGTGTGAGCATGCAGTCCCAGTGACACGGGAGGCTGAGCCACGAG TTCAAGGCTATAGTGCGGTATGATCACACCTGTGAATAGCCACTGCACTT CAGCCTGGGTAACACAGACAGGCTCCATCTCTTTAAA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02615.hp2 HG01243.hp1 HG02615.hp2	a0011 a0011	a0011c0008 a0011c0008	a0011c0008t0003 a0011c0008t0003	a0011c0008t0003g0222 a0011c0008t0003g0223 a0011c0008t0003g0222 a0011c0008t0003g0223	2	278	0.0072	-336	c.272 others(19): Show c.2723+1966_2723+2301del		SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	9/18						chr17	TogoVar
SMYD3_chr1_245744347_246512279	245974465	TAAAGCCA others(329): Show TAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCA TCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATC GTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGT CTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGG	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0020	1	150	0.0067	-336	c.532 others(19): Show c.532-44864_532-44529del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245974605	CAGGGAAA others(329): Show CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCA TCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA19030.hp1 HG02922.hp2 NA19030.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0002 a0002c0004t0002 a0002c0003t0002 a0002c0004t0002	a0002c0003t0002g0095 a0002c0004t0002g0139 a0002c0003t0002g0095 a0002c0004t0002g0139	2	150	0.0133	-336	c.532 others(19): Show c.532-45004_532-44669del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976477	CAGGGAAA others(329): Show CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCA GGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCAGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCAGCCCAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGC CATCGTCTCCAGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCA TCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCT	C C	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	150	0.0067	-336	c.532 others(19): Show c.532-46876_532-46541del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976545	AGCCTAGG others(329): Show AGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCAG CCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCC CAGGGAAAGCCATCGTCTCCAGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCAGCCCAGG GAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCTAGCCCAGGGA AAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAA GCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	150	0.0067	-336	c.532 others(19): Show c.532-46944_532-46609del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976664	CAGCCCAG others(329): Show CAGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTA GCCCAGGGAAAGCCATCGTCTCCAGCCCAGGGAAAGCCATCGTCTCCGGC CTAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCT AGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAG GGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGG AAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAA AGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCT	C C	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	150	0.0067	-336	c.532 others(19): Show c.532-47063_532-46728del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SOX5_chr12_23524504_23954670	23837475	ATATATTT others(329): Show ATATATTTATATTTATATAATATATAAGATATATTTATATTTATATAATA TATAAGATATATTTATATTTATATAATATATAAGATATATTTATATTTAT ATAATATATAAGATATATTTATATTTATATAATATATAAGATATATTTAT ATTTATATAATATATAAGATATATTTATATTTATATAATATATAAGATAT ATTTATATTTATATAATATATAAGCTATATTTATATTTATATAATATATA AGCTATATTTATATTTATATAATATATAAGCTATATTTATATTTATATAA TATATAAGCTATATTTATATTTATATAATATATAAGC	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02970.hp1 HG03710.hp2 others(2): Show HG00609.hp2 HG02970.hp1 HG03710.hp2 NA18973.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0042 others(2): Show a0001c0001t0006 a0001c0001t0008 a0001c0001t0042 a0001c0001t0072 a0001c0001t0078	a0001c0001t0006g0068 a0001c0001t0008g0067 a0001c0001t0042g0077 others(2): Show a0001c0001t0006g0068 a0001c0001t0008g0067 a0001c0001t0042g0077 a0001c0001t0072g0058 a0001c0001t0078g0054	5	212	0.0236	-336	c.481 others(17): Show c.481+8172_481+8507del		SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14						chr12	TogoVar
STOX1_chr10_68822531_68898060	68827627	GCCCGGCC others(329): Show GCCCGGCCCGTGCAGCTGGCGCCGGGCTCGCTGGCGCTAGTGCTGTGCCG GCTGGAGGCGCAGAAGGCGGCGGGGGCCGCGGAGGAGCCTGGTGGGCGCG CGGTGTTCCGCGCTTTCCGTCGCGCCAACGCGCGCTGCTTCTGGAACGCG CGGCTGGCGCGCGCCGCCTCGCGGCTGGCCTTCCAGGGCTGGCTGCGGCG GGGGGTGCTGCTGGTGCGCGCGCCCCCCGCCTGCCTGCAGGTGCTGCGCG ATGCCTGGCGGCGCCGGGCCCTGCGGCCGCCGCGCGGCTTCCGCATCAGG GCGGTGGGTGAGTGCGGGACCCGGAGGGGAGGGGCGT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(307): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.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 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA19001.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0014 a0015 a0016 a0017	a0001c0001 a0001c0014 a0001c0017 others(16): Show a0001c0001 a0001c0014 a0001c0017 a0002c0003 a0002c0004 a0002c0005 a0003c0002 a0004c0006 a0005c0007 a0006c0008 a0007c0010 a0008c0011 a0009c0009 a0010c0013 a0011c0012 a0014c0019 a0015c0018 a0016c0021 a0017c0020	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(24): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0014t0001 a0001c0017t0001 a0002c0003t0001 a0002c0003t0006 a0002c0003t0008 a0002c0004t0001 a0002c0005t0001 a0003c0002t0001 a0003c0002t0002 a0004c0006t0001 a0005c0007t0001 a0005c0007t0002 a0006c0008t0001 a0007c0010t0001 a0008c0011t0001 a0009c0009t0001 a0010c0013t0004 a0011c0012t0001 a0011c0012t0002 a0014c0019t0001 a0015c0018t0003 a0016c0021t0001 a0017c0020t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(303): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0049 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0282 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0003g0039 a0001c0001t0003g0080 a0001c0001t0005g0250 a0001c0001t0007g0283 a0001c0014t0001g0086 a0001c0014t0001g0087 a0001c0017t0001g0261 a0002c0003t0001g0028 a0002c0003t0001g0030 a0002c0003t0001g0032 a0002c0003t0001g0047 a0002c0003t0001g0050 a0002c0003t0001g0051 a0002c0003t0001g0052 a0002c0003t0001g0054 a0002c0003t0001g0055 a0002c0003t0001g0056 a0002c0003t0001g0057 a0002c0003t0001g0058 a0002c0003t0001g0059 a0002c0003t0001g0063 a0002c0003t0001g0064 a0002c0003t0001g0074 a0002c0003t0001g0077 a0002c0003t0001g0128 a0002c0003t0001g0149 a0002c0003t0001g0205 a0002c0003t0001g0216 a0002c0003t0001g0248 a0002c0003t0001g0269 a0002c0003t0001g0293 a0002c0003t0006g0053 a0002c0003t0008g0088 a0002c0004t0001g0066 a0002c0004t0001g0067 a0002c0004t0001g0076 a0002c0004t0001g0090 a0002c0004t0001g0091 a0002c0004t0001g0092 a0002c0004t0001g0093 a0002c0004t0001g0094 a0002c0004t0001g0095 a0002c0004t0001g0096 a0002c0004t0001g0097 a0002c0004t0001g0098 a0002c0004t0001g0100 a0002c0004t0001g0108 a0002c0004t0001g0109 a0002c0004t0001g0110 a0002c0004t0001g0111 a0002c0004t0001g0184 a0002c0004t0001g0187 a0002c0004t0001g0188 a0002c0004t0001g0234 a0002c0004t0001g0237 a0002c0004t0001g0265 a0002c0004t0001g0284 a0002c0005t0001g0024 a0002c0005t0001g0046 a0002c0005t0001g0048 a0002c0005t0001g0062 a0002c0005t0001g0127 a0002c0005t0001g0129 a0002c0005t0001g0130 a0002c0005t0001g0131 a0002c0005t0001g0132 a0002c0005t0001g0199 a0002c0005t0001g0240 a0003c0002t0001g0004 a0003c0002t0001g0005 a0003c0002t0001g0007 a0003c0002t0001g0013 a0003c0002t0001g0019 a0003c0002t0001g0020 a0003c0002t0001g0022 a0003c0002t0001g0023 a0003c0002t0001g0040 a0003c0002t0001g0041 a0003c0002t0001g0042 a0003c0002t0001g0043 a0003c0002t0001g0044 a0003c0002t0001g0045 a0003c0002t0001g0078 a0003c0002t0001g0079 a0003c0002t0001g0116 a0003c0002t0001g0118 a0003c0002t0001g0135 a0003c0002t0001g0136 a0003c0002t0001g0140 a0003c0002t0001g0146 a0003c0002t0001g0160 a0003c0002t0001g0168 a0003c0002t0001g0169 a0003c0002t0001g0170 a0003c0002t0001g0172 a0003c0002t0001g0173 a0003c0002t0001g0175 a0003c0002t0001g0178 a0003c0002t0001g0179 a0003c0002t0001g0189 a0003c0002t0001g0200 a0003c0002t0001g0217 a0003c0002t0001g0228 a0003c0002t0001g0229 a0003c0002t0001g0230 a0003c0002t0001g0231 a0003c0002t0001g0233 a0003c0002t0001g0236 a0003c0002t0001g0249 a0003c0002t0001g0287 a0003c0002t0001g0288 a0003c0002t0001g0305 a0003c0002t0002g0124 a0003c0002t0002g0125 a0003c0002t0002g0126 a0004c0006t0001g0138 a0004c0006t0001g0139 a0004c0006t0001g0141 a0004c0006t0001g0142 a0004c0006t0001g0143 a0004c0006t0001g0159 a0004c0006t0001g0190 a0004c0006t0001g0197 a0004c0006t0001g0198 a0004c0006t0001g0306 a0005c0007t0001g0174 a0005c0007t0001g0186 a0005c0007t0002g0121 a0005c0007t0002g0122 a0005c0007t0002g0123 a0006c0008t0001g0011 a0006c0008t0001g0018 a0006c0008t0001g0021 a0006c0008t0001g0026 a0007c0010t0001g0083 a0007c0010t0001g0084 a0007c0010t0001g0107 a0008c0011t0001g0119 a0008c0011t0001g0120 a0008c0011t0001g0137 a0009c0009t0001g0279 a0009c0009t0001g0280 a0009c0009t0001g0281 a0010c0013t0004g0215 a0010c0013t0004g0219 a0010c0013t0004g0245 a0011c0012t0001g0167 a0011c0012t0001g0171 a0011c0012t0002g0025 a0014c0019t0001g0211 a0015c0018t0003g0104 a0016c0021t0001g0065 a0017c0020t0001g0207	310	312	0.9936	-336	c.310 others(14): Show c.310+35_310+370del		STOX1	ENSG00000165730.16	transcript	ENST00000298596.11	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr10	TogoVar

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