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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Select column to sort.

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RPH3AL_chr17_207389_357807	257997	C C	CGCACGGC others(596): Show CGCACGGCGTCTGTCCTTTTCCATCCGTAGGAACGTGACTACCCTACGTA CTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAA TGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TTTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATAAGGGGAG CCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATGTGACTACCCTACGT ACTTCCTATAAGGGGAGCCGCACGGCGTCTGTCCTGTTCCGTCCCTAGGA ACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTC CTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGA GCCGCACGGCGTCTGTCCTTTTCCATCCGTAGGAATGTGACTACCCTACG TACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGG AACGTGACTACCCTACGTACTTCCTATGAGGGGACCTGCACGGCGTCTGT CCTTTTCCATCCCTAGGAATGTGACTACCCTACGCACTTCCTATGAGGGG AGCT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0017 a0001c0001t0005g0017	1	133	0.0075	603	c.439 others(622): Show c.439-10713_439-10712insAGCTCCCCTCATAGGAAGTGCGTAGG GTAGTCACATTCCTAGGGATGGAAAAGGACAGACGCCGTGCAGGTCCCCT CATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGATGGAAAAGGACAGA CGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACATTCCTAC GGATGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAG GGTAGTCACGTTCCTAGGGATGGAAAAGGACAGACGCCGTGCGGCTCCCC TCATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGACGGAACAGGACAG ACGCCGTGCGGCTCCCCTTATAGGAAGTACGTAGGGTAGTCACATTCCTA GGGATGGAAAAGGACAGACGCCGTGCGGCTCCCCTTATAGGAAGTACGTA GGGTAGTCACATTCCTAGGGATGGAAAAGGACAGACGCCGTGCGGCTCCC CTCATAGGAAGTACGTAGGGTAGTCACATTCCTAGGGACGGAAAAGGACA GACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCT ACGGATGGAAAAGGACAGACGCCGTGC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
SEL1L2_chr20_13844247_13995614	13934322	G G	GTATTCCA others(596): Show GTATTCCATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATATTCCATATATAT ATATATTCCATATATATATATATATTCCATATATATATATATTCCATATA TATATATATTCCATATATATATATATTCCATATATATATATATATTCCAT ATATATATATATTCCATATATATATATATTCCATATATATATATTCCATA TATATATATATTCCATATATATATATTCCATATATATATATATTCCATAT ATATATATTCCATATATATATATATTCCATATATATATATATTCCATATA TATATATTCCATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATATTCCATATATATATATTCCATATATATATA TATTCCATATATATATATTCCATATATATATATATTCCATATATATATAT ATTCCATATATATATATTCCATATATATATATTCCATATATATATATTCC ATATATATATATTCCATATATATATATTCCATATATATATATTCCATATA TATA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	324	0.0031	603	c.115 others(620): Show c.115-2552_115-2551insTATATATATGGAATATATATATATGGAA TATATATATATGGAATATATATATATGGAATATATATATATGGAATATAT ATATATGGAATATATATATATGGAATATATATATATATGGAATATATATA TATATGGAATATATATATATGGAATATATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATATATGGAATATATATATATA TGGAATATATATATATGGAATATATATATATGGAATATATATATATATGG AATATATATATATATGGAATATATATATATGGAATATATATATATATGGA ATATATATATATGGAATATATATATATATGGAATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATATATATGGA ATATATATATATATGGAATATATATATATATGGAATATATATATATATGG AATATATATATATATATGGAATATATATATATATGGAATATATATATATA TATGGAATATATATATATATGGAATATATATATATATGGAATATATATAT ATATGGAATATATATATATGGAATA	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13934322	G G	GTATTCCA others(596): Show GTATTCCATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATATTCCATATATATATATATTCCATATATATATATATTCCATATATA TATATATTCCATATATATATATATTCCATATATATATATATTCCATATAT ATATATATTCCATATATATATATATTCCATATATATATATATTCCATATA TATATATTCCATATATATATATATTCCATATATATATATTCCATATATAT ATATTCCATATATATATATATTCCATATATATATATATTCCATATATATA TATATTCCATATATATATATTCCATATATATATATATTCCATATATATAT ATTCCATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATATTCCATATATATATATTCCATATATATATATAT TCCATATATATATATTCCATATATATATATTCCATATATATATATATTCC ATATATATATATTCCATATATATATATTCCATATATATATATTCCATATA TATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	324	0.0031	603	c.115 others(620): Show c.115-2552_115-2551insTATATATATGGAATATATATATATGGAA TATATATATATGGAATATATATATATGGAATATATATATATATGGAATAT ATATATATGGAATATATATATATGGAATATATATATATATGGAATATATA TATATGGAATATATATATATATGGAATATATATATATATGGAATATATAT ATATATGGAATATATATATATGGAATATATATATATGGAATATATATATA TATGGAATATATATATATGGAATATATATATATATGGAATATATATATAT ATGGAATATATATATATATGGAATATATATATATGGAATATATATATATG GAATATATATATATATGGAATATATATATATGGAATATATATATATATGG AATATATATATATATGGAATATATATATATATGGAATATATATATATATG GAATATATATATATATGGAATATATATATATATGGAATATATATATATAT GGAATATATATATATATGGAATATATATATATATATGGAATATATATATA TATGGAATATATATATATATGGAATATATATATATATGGAATATATATAT ATATGGAATATATATATATGGAATA	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEPTIN9_chr17_77276499_77505593	77356680	T T	TCCCCCTC others(596): Show TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCT CCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCC CTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCC CCTCCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCT CCCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCC TCCCCACCCCCTCCCCATCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCCACCCC TTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCC CCTC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0084 a0001c0001t0040g0084	1	150	0.0067	603	c.77- others(620): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCC TCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCCTCCCCTCCCCTCCCCCCCCACCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCC CTCCCCCTCCCCTCCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCC CCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCCTCCCCTCCCCTC CCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCC TCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTC CCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTTTCCCTTCCCCTCCCCTCCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356680	T T	TCCCCCTC others(596): Show TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCT CCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCC CTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCC CCTCCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCT CCCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCC TCCCCACCCCCTCCCCATCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCCACCCC TTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCC CCTC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0018 a0001c0001t0051g0018	1	158	0.0063	603	c.22+ others(620): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCC TCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCCTCCCCTCCCCTCCCCCCCCACCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCC CTCCCCCTCCCCTCCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCC CCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCCTCCCCTCCCCTC CCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCC TCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTC CCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTTTCCCTTCCCCTCCCCTCCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SERINC2_chr1_31408213_31439678	31431777	A A	ATAGGGTG others(596): Show ATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGGATAGG GTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGA CAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGTTAGAGTGGACAGGGTGGACAGGGTGGACAGGGTGGAC AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGT GGAGAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGTTAGGGTGGAGAGGGTGGTTAGGGTGGATAGGGTG GACAGGGTGGACAGGGTGGAGAGGGTGGAGAGGGTGGTTAGGGTGGATAG GGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG ATAGGATGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGACAGG GTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGA CAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGA TGGT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0114 a0001c0005t0002g0114	1	376	0.0027	603	c.101 others(622): Show c.1014-1182_1014-1181insTTAGGGTGGTTAGGGTGGATAGGATG GTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAG GGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGG ATAGGGTGGATAGGGTGGATAGGGTGGTTAGAGTGGACAGGGTGGACAGG GTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGA CAGGGTGGACAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGTTAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGAGAGGGTGGTT AGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGAGAGGGTGGAGAGGGT GGTTAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGATAGGATGGACAGGGTGGACAGGGTGGATAGGGTG GATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAG GGTGGATAGGATGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGG ATAGGGTGGATAGGATGGTTAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC45A1_chr1_8313114_8349165	8322292	A A	ATGGATGG others(596): Show ATGGATGGGCGGGTGGGTGGATGGATGAGTGGGTGAGTGGATGGATGCAT GGATGGATGGGTGGGTGGGTGGATGGATGAGTGGGTGGATGGATGGGTGG ATGGATGGGTGGGTGGGTGGGTGGATGGATGGGTGGGTGGGTGCGTGGGT GGGTGGATGGATGGATGGATGAGTGGGTGAGTGGATGGATGCATGGATGG ATGGGTGGGTGGGTGAATGGATGGATGAGTGGGTGGATGGATGGGTGGAT GAATGGGTGGGTGGGTGCGTGGGTGGGTGGATGGATGGATGGGTGGATGG ATGCATGGGTGGGTGGATGTATGGGTGGATGGATGCGTGGGTGGGTGGAT GGATGGGTGGATGGGTGGATGGATGGATGGATAGATGGGTGTGTGGATGG ATGGATGAGTGGGTGGATGGATGGGTGGATGGATGGGTAGGTGGGTGGAT GGATGGGTGGATGAGTGGATGGATGGATAGATGGGTGGGTGGATGGATGG ATGAGTGGGTGGAGGGATGGGTGGATGATGGATGGGTGGGTGGATGGATG GGTGGGTGGGTGGATGGGTGGGTGGGTGGATGGGTGGATGGATGGGTGGG TGGG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0181 a0001c0008t0003g0181	1	388	0.0026	603	c.-24 others(620): Show c.-24-2007_-24-2006insGCGGGTGGGTGGATGGATGAGTGGGTGA GTGGATGGATGCATGGATGGATGGGTGGGTGGGTGGATGGATGAGTGGGT GGATGGATGGGTGGATGGATGGGTGGGTGGGTGGGTGGATGGATGGGTGG GTGGGTGCGTGGGTGGGTGGATGGATGGATGGATGAGTGGGTGAGTGGAT GGATGCATGGATGGATGGGTGGGTGGGTGAATGGATGGATGAGTGGGTGG ATGGATGGGTGGATGAATGGGTGGGTGGGTGCGTGGGTGGGTGGATGGAT GGATGGGTGGATGGATGCATGGGTGGGTGGATGTATGGGTGGATGGATGC GTGGGTGGGTGGATGGATGGGTGGATGGGTGGATGGATGGATGGATAGAT GGGTGTGTGGATGGATGGATGAGTGGGTGGATGGATGGGTGGATGGATGG GTAGGTGGGTGGATGGATGGGTGGATGAGTGGATGGATGGATAGATGGGT GGGTGGATGGATGGATGAGTGGGTGGAGGGATGGGTGGATGATGGATGGG TGGGTGGATGGATGGGTGGGTGGGTGGATGGGTGGGTGGGTGGATGGGTG GATGGATGGGTGGGTGGGTGGATGG	SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC66A2_chr18_79897420_79956653	79952716	G G	GCGGGTGA others(596): Show GCGGGTGAAGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGCGCGCGGGT GAGGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGG TGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGGTGAGGGGTGAGG GGAGCGCGGGTGAGGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGAGCG CGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTG AGGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGCGCGCGGGTGAGGGGT GAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGG AGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCG GGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAG GGGTGAGGGGCGCGCGGGTGAAGTGTGAGGGGGCGCGCGGGTGAAGAGTG AGGGGAGCGTGGGTGAGGGGTGAGGGGCGCGCCGGTGAAGGGTGAGGGGA GCGTGGGTGAGGGGTGAGGCGTGAGTGATGCGCGAGTGAAGGGTGAGGGG CGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	352	0.0028	603	c.-12 others(614): Show c.-1236_-1235insGGCGCCCCTCACCCTTCACTCGCGCATCACTCAC GCCTCACCCCTCACCCACGCTCCCCTCACCCTTCACCGGCGCGCCCCTCA CCCCTCACCCACGCTCCCCTCACTCTTCACCCGCGCGCCCCCTCACACTT CACCCGCGCGCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCG CGCTCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCC CCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCTCAC CCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCGCCCCTCACCCCTCA CCCGCGCGCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCG CTCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCGCCCC TCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCCGCGCTCCCCTCACC CCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCAC CCGCGCGCCCCTCACCCCTCACCCGCGCGCCCCTCACCCCTCACCCGCGC GCCCCTCACCCTTCACCCG	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding		1064		chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79952716	G G	GCGGGTGA others(596): Show GCGGGTGAAGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGCGCGCGGGT GAGGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGGAGCGCGGGTGAGGG GTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGG GGAGCGCGGGTGAGGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGAGCG CGGGTGAGGGGTGAGGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGT GAGGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGCGCGCGGGTGAGGGG TGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGG GAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGC GGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGA GGGGTGAGGGGCGCGCGGGTGAAGTGTGAGGGGCGCGCGGGTGAAGAGTG AGGGGAGCGTGGGTGAGGGGTGAGGGGCGCGCCGGTGAAGGGTGAGGGGA GCGTGGGTGAGGGGTGAGGCGTGAGTGATGCGCGAGTGAAGGGTGAGGGG CGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0329 a0001c0001t0003g0329	1	352	0.0028	603	c.-12 others(614): Show c.-1236_-1235insGGCGCCCCTCACCCTTCACTCGCGCATCACTCAC GCCTCACCCCTCACCCACGCTCCCCTCACCCTTCACCGGCGCGCCCCTCA CCCCTCACCCACGCTCCCCTCACTCTTCACCCGCGCGCCCCTCACACTTC ACCCGCGCGCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGC GCTCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCC CTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCTCACC CCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCGCCCCTCACCCCTCAC CCGCGCGCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGC TCCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCGCCCC TCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCTCACCC CTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCCTCACCCCTCAC CCGCGCGCCCCTCACCCCTCACCCGCGCGCCCCTCACCCCTCACCCGCGC GCCCCTCACCCTTCACCCG	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding		1064		chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79952716	G G	GCGGGTGA others(596): Show GCGGGTGAAGGGTGAGGGGGCGCGCGGGTGAGGGGTGAGGGGCGCGCGGG TGAGGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGG GTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGG GGAGCGCGGGTGAGGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGAGCG CGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTG AGGGGTGAGGGGCGCGCGGGGTGAGGGGTGAGGGGCGCGCGGGTGAGGGG TGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGG GAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGC GGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGA GGGGTGAGGGGCGCGCGGGTGAAGTGTGAGGGGCGCGCGGGTGAAGAGTG AGGGGAGCGTGGGTGAGGGGTGAGGGGCGCGCCGGTGAAGGGTGAGGGGA GCGTGGGTGAGGGGTGAGGCGTGAGTGATGCGCGAGTGAAGGGTGAGGGG CGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0331 a0001c0001t0003g0331	1	352	0.0028	603	c.-12 others(614): Show c.-1236_-1235insGGCGCCCCTCACCCTTCACTCGCGCATCACTCAC GCCTCACCCCTCACCCACGCTCCCCTCACCCTTCACCGGCGCGCCCCTCA CCCCTCACCCACGCTCCCCTCACTCTTCACCCGCGCGCCCCTCACACTTC ACCCGCGCGCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGC GCTCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCC CTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCTCACC CCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCGCCCCTCACCCCTCAC CCCGCGCGCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCG CTCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCGCCCC TCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCTCACCC CTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACC CGCGCGCCCCTCACCCCTCACCCGCGCGCCCCTCACCCCTCACCCGCGCG CCCCCTCACCCTTCACCCG	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding		1064		chr18	TogoVar
SPATA13_chr13_24155720_24312069	24190091	A A	AATGATAT others(596): Show AATGATATATAATATATATCATTATATAACATATAATGATATATAATATA TATCATTATATAACATATAATGATATATAATATATATCATTATATAACAT ATAATGATATATAATATATATCATTATATAACATATAATGATATATAATA TATATCATTATATAACATATAATGATATATAATATATATCATTATATAAC ATATAATGATATATAATATATATCATTATATAACATATAATGATATATAA TATATATCATTATATAACATATAATGATATATAATATATATCATTATATA ACATATAATGATATATAATATATATCATTATATAACATATAATGATATAT AATATATATCATTATATAACATATAATGATATATAATATATATCATTATA TAACATATAATGATATATAATATATATCATTATATAACATATAATGATAT ATAATATATATCATTATATAACATATAATGATATATAATATATATCATTA TATAACATATAATGATATATAATATATATCATTATATAACATATAATGAT ATATAATATATATCATATAACATATGATATATAATATATATCATTATATA ACAT	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0333 a0001c0001t0017g0333	1	356	0.0028	603	c.-11 others(624): Show c.-112+29167_-112+29168insTAATATATATCATTATATAACATA TAATGATATATAATATATATCATTATATAACATATAATGATATATAATAT ATATCATTATATAACATATAATGATATATAATATATATCATTATATAACA TATAATGATATATAATATATATCATTATATAACATATAATGATATATAAT ATATATCATTATATAACATATAATGATATATAATATATATCATTATATAA CATATAATGATATATAATATATATCATTATATAACATATAATGATATATA ATATATATCATTATATAACATATAATGATATATAATATATATCATTATAT AACATATAATGATATATAATATATATCATTATATAACATATAATGATATA TAATATATATCATTATATAACATATAATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATATAACATATGATATATA ATATATATCATTATATAACATATGATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(596): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAG CGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGG TGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGA GTTGCCTGTGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGG CCCAGCAGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTG CCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	422	0.0024	603	c.64 others(614): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCCACAGGCAACTCCACCCCCGC TGGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGC AACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGG CCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACT CCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCC CCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCATCCCC GCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCACAG GCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGG CACCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCCAGGCA ACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAACCCCACCCCCGCTGGG CCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCAC CCCCGCTGGGCCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(596): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGG AGAACGGGGTGGGAGAGCAGGGTGGGAGAGCAGGGTGGGAGGGGTGGGAG AACGGGGTGGGGGTGGGAGGGGGTGGGAGAACGGGGTGGGGGTGGGAGGG GTGGGAGAACGGGGTGGGGGTGGGAGGGGTGGGAGAACGGGGTGGGGGTG GGAGGGGGTGGGAGAACGGGGTGGGAGCGAGGTGGGAGAACGGGGTGAGA GCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAACGGGGAGGAGGC GGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGAGAGAGCGG GGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAACGGGGTGAGAGCGGGG TGGGGGAACGGGGAGAGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTG GGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGG GGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGGTGGGAGCGGGGTGGGA GAAC	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0110 a0001c0001t0014g0110	1	364	0.0028	603	c.157 others(622): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCCG TTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTT CCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCC CCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCTCACCCCGTTCCCC CACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCA CCCCGCTCCCACCCCGTTCCCCCACCCCGCCTCCTCCCCGTTCCCCCACC CCGCTCTCTCCCCGTTCCCCCACCCCGCTCTCACCCCGTTCTCCCACCTC GCTCCCACCCCGTTCTCCCACCCCCTCCCACCCCCACCCCGTTCTCCCAC CCCTCCCACCCCCACCCCGTTCTCCCACCCCTCCCACCCCCACCCCGTTC TCCCACCCCCTCCCACCCCCACCCCGTTCTCCCACCCCTCCCACCCTGCT CTCCCACCCTGCTCTCCCACCCCGTTCTCCCACCCCGCTGTCCCACCCCG CTCTCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTTCTCCCAC CCCGTTCTCCCACCCCGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(596): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGG AGAACGGGGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGGTGGGAG AACGGGGTGGGGGTGGGAGGGGGTGGGAGAACGGGGTGGGGGTGGGAGGG GTGGGAGAACGGGGTGGGGGTGGGAGGGGTGGGAGAACGGGGTGGGGGTG GGAGGGGGGTGGGAGAACGGGGTGGGAGCGAGGTGGGAGAACGGGGTGAG AGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAACGGGGAGGAGG CGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGAGAGAGCG GGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAACGGGGTGAGAGCGGG GTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGT GGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGG GGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGA GAAC	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0042 a0001c0001t0014g0042	1	364	0.0028	603	c.157 others(622): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGT TCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTC CCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCC CCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCTCACCCCGTTCCCCC ACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCAC CCCGCTCCCACCCCGTTCCCCCACCCCGCCTCCTCCCCGTTCCCCCACCC CGCTCTCTCCCCGTTCCCCCACCCCGCTCTCACCCCGTTCTCCCACCTCG CTCCCACCCCGTTCTCCCACCCCCCTCCCACCCCCACCCCGTTCTCCCAC CCCTCCCACCCCCACCCCGTTCTCCCACCCCTCCCACCCCCACCCCGTTC TCCCACCCCCTCCCACCCCCACCCCGTTCTCCCACCCCTCCCACCCTGCT CTCCCACCCCGCTCTCCCACCCCGTTCTCCCACCCCGCTGTCCCACCCCG CTCTCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTTCTCCCAC CCCGTTCTCCCACCCCGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(596): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCGG GGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGGAGAACGG GGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGGTGGGAGAACGGGG TGGGGGGTGGGAGGGGGTGGGAGAACGGGGTGGGAGCGAGGTGGGAGAAC GGGGTGAGAGCGGGGTGGGAGAGCGGGGTGGGGGTGAGAGCGGGGTGGGA GAACGGGGTGAGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGA ACGGGGAGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAAC GGGGAGAGAGCGGGGTGGGGGAACGGGGTGAGAGCGGGGTGGGGGAACGG GGAGAGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGG GTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGT GGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGAGCGGGGTGGGA GAAC	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0002 a0001c0028t0002	a0001c0028t0002g0217 a0001c0028t0002g0217	1	364	0.0028	603	c.157 others(622): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGC TCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTC CCACCCCGTTCCCCCACCCCGCTCCCACCCCCGTTCCCCCACCCCGCTCC CACCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCTCA CCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCACC CCGTTCCCCCACCCCGCTCCCTCCCCGTTCCCCCACCCCGCTCTCTCCCC GTTCCCCCACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCTCACCCCCA CCCCGCTCTCCCACCCCGCTCTCACCCCGTTCTCCCACCTCGCTCCCACC CCGTTCTCCCACCCCCTCCCACCCCCCACCCCGTTCTCCCACCCCTCCCA CCCTGCTCTCCCACCCCGCTCTCCCACCCCGTTCTCCCACCCCGCTGTCC CACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTT CTCCCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTTCTCCCAC CCCGTTCTCCCACCCCGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(596): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCGG GGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGGAGAACGG GGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGGTGGGAGAACGGGG TGGGGGTGGGAGGGGGTGGGAGAACGGGGTGGGAGCGAGGTGGGAGAACG GGGTGAGAGCGGGGTGGGAGAGCGGGGTGGGGGGTGAGAGCGGGGTGGGA GAACGGGGTGAGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGA ACGGGGAGGGAGCGGGGTGGGGGAACGGGGGTGGGAGCGGGGTGGGGGAA CGGGGAGAGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACG GGGAGAGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGG GTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGT GGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGAGCGGGGTGGGA GAAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0014 a0001c0002t0005g0014	1	364	0.0028	603	c.157 others(622): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGC TCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTC CCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCC ACCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCAC CCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCACCC CCGTTCCCCCACCCCGCTCCCTCCCCGTTCCCCCACCCCGCTCTCTCCCC GTTCCCCCACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCTCACCCCCC ACCCCGCTCTCCCACCCCGCTCTCACCCCGTTCTCCCACCTCGCTCCCAC CCCGTTCTCCCACCCCCTCCCACCCCCACCCCGTTCTCCCACCCCTCCCA CCCTGCTCTCCCACCCCGCTCTCCCACCCCGTTCTCCCACCCCGCTGTCC CACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTT CTCCCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTTCTCCCAC CCCGTTCTCCCACCCCGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(596): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCGG GGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGGAGAACGG GGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGGTGGGAGAACGGGG TGGGGGTGGGAGGGGGTGGGAGAACGGGGTGGGAGCGAGGTGGGAGAACG GGGTGAGAGCGGGGTGGGAGAGCGGGGTGGGGGTGAGAGCGGGGTGGGAG AACGGGGTGAGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAA CGGGGAGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACG GGGAGAGAGCGGGGTGGGGGAACGGGGTGAGAGCGGGGTGGGGGAACGGG GAGAGAGCGGGGTGGGGGAACGGGGGTGGGAGCGGGGTGGGGGAACGGGG GTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGT GGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGAGCGGGGTGGGA GAAC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	364	0.0028	603	c.157 others(622): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGC TCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTC CCACCCCGTTCCCCCACCCCGCTCCCACCCCCGTTCCCCCACCCCGCTCC CACCCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCTC ACCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCAC CCCGTTCCCCCACCCCGCTCCCTCCCCGTTCCCCCACCCCGCTCTCTCCC CGTTCCCCCACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCTCACCCCC ACCCCGCTCTCCCACCCCGCTCTCACCCCGTTCTCCCACCTCGCTCCCAC CCCGTTCTCCCACCCCCTCCCACCCCCACCCCGTTCTCCCACCCCTCCCA CCCTGCTCTCCCACCCCGCTCTCCCACCCCGTTCTCCCACCCCGCTGTCC CACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTT CTCCCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTTCTCCCAC CCCGTTCTCCCACCCCGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(596): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCGG GGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGGAGAACGG GGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGGTGGGAGAACGGGG TGGGGGTGGGAGGGGGTGGGAGAACGGGGTGGGAGCGAGGTGGGAGAACG GGGTGAGAGCGGGGTGGGAGAGCGGGGTGGGGGTGAGAGCGGGGTGGGAG AACGGGGTGAGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAA CGGGGAGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACG GGGAGAGAGCGGGGTGGGGGAACGGGGTGAGAGCGGGGTGGGGGAACGGG GGAGAGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGGTGGGGGAACGGG GTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGT GGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGAGCGGGGTGGGA GAAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0313 a0001c0002t0008g0313	1	364	0.0028	603	c.157 others(622): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGC TCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTC CCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCCGCTCC CACCCCGTTCCCCCACCCCGCTCTCTCCCCCGTTCCCCCACCCCGCTCTC ACCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCAC CCCGTTCCCCCACCCCGCTCCCTCCCCGTTCCCCCACCCCGCTCTCTCCC CGTTCCCCCACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCTCACCCCC ACCCCGCTCTCCCACCCCGCTCTCACCCCGTTCTCCCACCTCGCTCCCAC CCCGTTCTCCCACCCCCTCCCACCCCCACCCCGTTCTCCCACCCCTCCCA CCCTGCTCTCCCACCCCGCTCTCCCACCCCGTTCTCCCACCCCGCTGTCC CACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTT CTCCCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTTCTCCCAC CCCGTTCTCCCACCCCGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(596): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCGG GGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGGAGAACGG GGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGGTGGGAGAACGGGG TGGGGGTGGGAGGGGGTGGGAGAACGGGGTGGGAGCGAGGTGGGAGAACG GGGTGAGAGCGGGGTGGGAGAGCGGGGTGGGGGTGAGAGCGGGGTGGGAG AACGGGGTGAGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAA CGGGGAGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACG GGGAGAGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGG GAGAGAGCGGGGTGGGGGAACGGGGGTGGGAGCGGGGTGGGGGAACGGGG TGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGGT GGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGAGCGGGGTGGGA GAAC	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	364	0.0028	603	c.157 others(622): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGC TCCCACCCCGTTCCCCCACCCCGCTCCCACCCCCGTTCCCCCACCCCGCT CCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCC CACCCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCC ACCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCAC CCCGTTCCCCCACCCCGCTCCCTCCCCGTTCCCCCACCCCGCTCTCTCCC CGTTCCCCCACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCTCACCCCC ACCCCGCTCTCCCACCCCGCTCTCACCCCGTTCTCCCACCTCGCTCCCAC CCCGTTCTCCCACCCCCTCCCACCCCCACCCCGTTCTCCCACCCCTCCCA CCCTGCTCTCCCACCCCGCTCTCCCACCCCGTTCTCCCACCCCGCTGTCC CACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTT CTCCCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTTCTCCCAC CCCGTTCTCCCACCCCGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
TECPR1_chr7_98209624_98257232	98242990	C C	CCACCCAC others(596): Show CCACCCACCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC GCACACCCACCCATCTGTCCATCTGCACACACCTTCCATCCATCCACACA TATACCCACCTATCCATCTACCCATGCACTCACCCACCCACTCACTCACC CATCCACACACCCACCCACACACCCATCCATCCACACACCCACCCACCCA TCCATCCACACATCCACCCACACATCCATCCATCCACCCATCCATACATC CATCTGCACAACCACCCATCTGTCCATCTGCACATACCTTCCATTCATCC ACACATACACCCACCCACCCACTCACCCACCCATCCACACACCCATCCAC CCATCCACACACCCACCCACCCATCCATCCACACATCCACCCACACACCC ATCCATCCATCCATCCGCACACCCACCCATCTGTCCATCTGCACACACCT TCCATCCATCCACACATATACCCACCTATCCATCTACCCATGCACCCACC CACCCACCCACTCACCCATCCACACACCCACCCACACACCCATCCATCCA CACAAACACCCACCCATCCATCCATCCACCCATCCATCCATCCATCTGCC CACA	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA19066.hp1 NA18942.hp1 NA19066.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0105 a0002c0002t0004 a0002c0002t0105	a0002c0002t0004g0287 a0002c0002t0105g0247 a0002c0002t0004g0287 a0002c0002t0105g0247	2	346	0.0058	603	c.657 others(618): Show c.657+476_657+477insTGTGGGCAGATGGATGGATGGATGGGTGGA TGGATGGATGGGTGGGTGTTTGTGTGGATGGATGGGTGTGTGGGTGGGTG TGTGGATGGGTGAGTGGGTGGGTGGGTGGGTGCATGGGTAGATGGATAGG TGGGTATATGTGTGGATGGATGGAAGGTGTGTGCAGATGGACAGATGGGT GGGTGTGCGGATGGATGGATGGATGGGTGTGTGGGTGGATGTGTGGATGG ATGGGTGGGTGGGTGTGTGGATGGGTGGATGGGTGTGTGGATGGGTGGGT GAGTGGGTGGGTGGGTGTATGTGTGGATGAATGGAAGGTATGTGCAGATG GACAGATGGGTGGTTGTGCAGATGGATGTATGGATGGGTGGATGGATGGA TGTGTGGGTGGATGTGTGGATGGATGGGTGGGTGGGTGTGTGGATGGATG GGTGTGTGGGTGGGTGTGTGGATGGGTGAGTGAGTGGGTGGGTGAGTGCA TGGGTAGATGGATAGGTGGGTATATGTGTGGATGGATGGAAGGTGTGTGC AGATGGACAGATGGGTGGGTGTGCGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGGTGGGTG	TECPR1	ENSG00000205356.10	transcript	ENST00000447648.7	protein_coding	6/25			chr7	TogoVar
TLL2_chr10_96359608_96518926	96415739	G G	GTCTCTCT others(596): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTGTCTCT CTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCT CTGTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCT CTCTGTCATCTCTCTCTCTCTTGTCTCTCTCTCTGTCTCTCTCTCTCCTG TCTCTCTCTCTTCTCTGTCTCTGTCTCTCTCTCTCTGTCTCTGTCTCTCT CTCTCTCTGTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTCT CTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTGCTCTCTTTCTCTCTCTC TCTCTCTGTCTCTTTCTCTCTCTCTGTCTCTCTCTGTCTCTTTCTCTCTC TCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCTC TCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCTC TCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTC TGTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTG TCTC	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0158 a0001c0001t0006g0158	1	256	0.0039	603	c.924 others(620): Show c.924-2424_924-2423insGAGACAGAGAGAGAGACAGAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGA GAGACAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGA GAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGA GAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGA CAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGAGCAGAGAG AGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAAAG AGACAGAGAGAGAGAGACAGAGAGAGAGAGAGACAGAGACAGAGAGAGAG AGACAGAGACAGAGAAGAGAGAGAGACAGGAGAGAGAGAGACAGAGAGAG AGACAAGAGAGAGAGAGATGACAGAGAGAGAGACAGAGAGAGAGACAGAG AGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAG AGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TRAF6_chr11_36478769_36515272	36507207	C C	CATACGTA others(596): Show CATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAAT GTATATATGTATATATACATGTATTATACATACGTAAATGTATATATGTA TATATACATGTATTATACATACGTAAATGTATATATGTATATATACATGT ATTATACATACGTAAATGTATATATGTATATATACATGTATTATACATAC GTAAATGTATATATGTATATATACATGTATTATACATACGTAAATGTATA TATGTATATATACATGTATTATACATACGTAAATGTATATATGTATATAT ACATGTATTATACATACGTAAATGTATATATGTATATATACATGTATTAT ACATACGTAAATGTATAATGTATATATACATGTATTATACATACGTAAAT GTATAATGTATATATACATTATACATACGTAAATGTATAATGTATATATA CATTATACATACGTAAATGTATAATGTATATATACATTATACATACGTAA ATGTATAATGTATATATACATTATACATACGTAAATGTATAATGTATATA TACATTATACATACGTAAATGTATATATATACATTATACATACGTAAATG TATT	intron_variant intron_variant	MODIFIER	HG01433.hp1 NA18943.hp2 HG01433.hp1 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0192 a0001c0001t0001g0144 a0001c0001t0001g0192	2	388	0.0052	603	c.-23 others(620): Show c.-23+2840_-23+2841insAATACATTTACGTATGTATAATGTATAT ATATACATTTACGTATGTATAATGTATATATACATTATACATTTACGTAT GTATAATGTATATATACATTATACATTTACGTATGTATAATGTATATATA CATTATACATTTACGTATGTATAATGTATATATACATTATACATTTACGT ATGTATAATGTATATATACATTATACATTTACGTATGTATAATACATGTA TATATACATTATACATTTACGTATGTATAATACATGTATATATACATATA TACATTTACGTATGTATAATACATGTATATATACATATATACATTTACGT ATGTATAATACATGTATATATACATATATACATTTACGTATGTATAATAC ATGTATATATACATATATACATTTACGTATGTATAATACATGTATATATA CATATATACATTTACGTATGTATAATACATGTATATATACATATATACAT TTACGTATGTATAATACATGTATATATACATATATACATTTACGTATGTA TAATACATGTATATATACATATATACATTTACGTATGTATAATACATGTA TATATACATATATACATTTACGTAT	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507497	A A	ATATATAC others(596): Show ATATATACATGTATTATACATACATAAATGTATATATGTATATATACATG TATTATACATACATAAATGTATATATGTATATATACATGTATTATACATA CATAAATGTATATATGTATATATACATGTATTATACATACATAAATGTAT ATATACATTATACATACATAAATGTATATATGTATATATACATTATACAT ACATAAATGTATATATGTATATATACATTATACATACATAAATGTATATA TGTATATATACATTATACATACGTAAATGTATAATGTATATATACATTAT ACATACGTAAATGTATAATGTATATATACATTATACATACGTAAATGTAT TATACATAAATGTATATATGTATATATACATGTATTATACATACATAAAT GTATATATGTATATATACATGTATTATACATACATAAATGTATATATGTA TATATACATGTATTATACATACATAAATGTATATATGTATATATACATGT ATTATACATACATAAATGTATATATGTATATATACATGTATTATACATAC ATAAATGTATATATGTATATATACATGTATTATACATACATAAATGTATA TATG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0281 a0001c0001t0022g0281	1	388	0.0026	603	c.-23 others(620): Show c.-23+2550_-23+2551insCATATATACATTTATGTATGTATAATAC ATGTATATATACATATATACATTTATGTATGTATAATACATGTATATATA CATATATACATTTATGTATGTATAATACATGTATATATACATATATACAT TTATGTATGTATAATACATGTATATATACATATATACATTTATGTATGTA TAATACATGTATATATACATATATACATTTATGTATGTATAATACATGTA TATATACATATATACATTTATGTATAATACATTTACGTATGTATAATGTA TATATACATTATACATTTACGTATGTATAATGTATATATACATTATACAT TTACGTATGTATAATGTATATATACATATATACATTTATGTATGTATAAT GTATATATACATATATACATTTATGTATGTATAATGTATATATACATATA TACATTTATGTATGTATAATGTATATATACATTTATGTATGTATAATACA TGTATATATACATATATACATTTATGTATGTATAATACATGTATATATAC ATATATACATTTATGTATGTATAATACATGTATATATACATATATACATT TATGTATGTATAATACATGTATATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TSHZ2_chr20_52967358_53500330	53204081	T T	TTATATCA others(596): Show TTATATCATCATATGATGATATACTATTATATCATCATATGATGATATAC TATTATATCATCATATGATGATATGATACTATTATATCATCATATGATGA TATGATACTATTATATCATCATATGATGATATGATACTATTATATCATCA TATGATGATATGATACTATTATATCATCATATGATGATATGATACTATAT CATCATATGATGATATGATACTATATCATCATATGATGATATGATACTAT ATCATCATATGATGATATGATACTATATCATCATATGATGATATGATACT ATATCATCATATGATGATATGATATACTATATCATCATATGATGATATGA TATACTATATCATCATATGATGATATGATATACTATATCATCATATGATG ATATGATATACTATATCATCATATGATGATATGATATACTATATCATCAT ATGATGATATGATATACTATATCATCATATGATATGATATACTATATCAT CATATGATGATATGATATACTATATCATCATATGATGATATGATATACTA TATCATCATATGATGATATGATATACTATATCATCATATGATGATATGAT ATAC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0071 a0001c0001t0004g0071	1	174	0.0058	603	c.41- others(620): Show c.41-49397_41-49396insACTATTATATCATCATATGATGATATAC TATTATATCATCATATGATGATATGATACTATTATATCATCATATGATGA TATGATACTATTATATCATCATATGATGATATGATACTATTATATCATCA TATGATGATATGATACTATTATATCATCATATGATGATATGATACTATAT CATCATATGATGATATGATACTATATCATCATATGATGATATGATACTAT ATCATCATATGATGATATGATACTATATCATCATATGATGATATGATACT ATATCATCATATGATGATATGATATACTATATCATCATATGATGATATGA TATACTATATCATCATATGATGATATGATATACTATATCATCATATGATG ATATGATATACTATATCATCATATGATGATATGATATACTATATCATCAT ATGATGATATGATATACTATATCATCATATGATATGATATACTATATCAT CATATGATGATATGATATACTATATCATCATATGATGATATGATATACTA TATCATCATATGATGATATGATATACTATATCATCATATGATGATATGAT ATACTATATCATCATATGATGATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TSNARE1_chr8_142207080_142408182	142261001	T T	TGGGGAGG others(596): Show TGGGGAGGGAGGAGAGAGGGAGGAGAGAGACAGGAGGGAGGAAGGGAGGA GGGAAGCAGGAGGGAAGGAGAAAAGAGGGAGGAGGAGGGAGGGTGAGGGA GGGGAGAGGGAGGGAGGGAGGAGAGAGGGAGGAAGGGAGGAGGGAAGCAG GAGGGAGGGAGGAGAGGAAGAAGGAGGAGGGAGGCAGCAGAAAGGGAGGT AGGAGGAAAGGAGGAGAGAGGGAGAAGGGAGGGAGGAGACAGGGAGGGAG AGAGGGAGGGAGGAAGAAGGGAAGGAGGAGAGAGGGAAGAGGGAGGAGAG AAGGAGGAGGGAGGAAGGAAAGAGGGAGGGAGAAAGGTAGGAGGAAGGGA GGAGAGAGGGAGGAAGGGAGGAGGGAAGCAGGAGGGAGGGAGGAGAGGAA GAAGGAGGAGGGAGGCAGCAGAAAGGGAGGTAGGAGGAAAGGAGGAGAGA GGGAGAAGGGAGGGAGGAGACAGGGAGGGAGAGAGGGAGGGAGGAAGAAG GGAAGGAGGAGAGAGGGAAGAGGGAGGAGAGAAGGAGGAGGGAGGAAGGA AAGAGGGAGGGAGAAAGGTAGGAGGACGGGAGGAGAGAGGGAGGGAGGAG GGAG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03471.hp2 HG03041.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0062 a0001c0001t0001g0057 a0001c0001t0001g0062	2	238	0.0084	603	c.144 others(624): Show c.1446+13779_1446+13780insCTCCCTCCTCCCTCCCTCTCTCCT CCCGTCCTCCTACCTTTCTCCCTCCCTCTTTCCTTCCTCCCTCCTCCTTC TCTCCTCCCTCTTCCCTCTCTCCTCCTTCCCTTCTTCCTCCCTCCCTCTC TCCCTCCCTGTCTCCTCCCTCCCTTCTCCCTCTCTCCTCCTTTCCTCCTA CCTCCCTTTCTGCTGCCTCCCTCCTCCTTCTTCCTCTCCTCCCTCCCTCC TGCTTCCCTCCTCCCTTCCTCCCTCTCTCCTCCCTTCCTCCTACCTTTCT CCCTCCCTCTTTCCTTCCTCCCTCCTCCTTCTCTCCTCCCTCTTCCCTCT CTCCTCCTTCCCTTCTTCCTCCCTCCCTCTCTCCCTCCCTGTCTCCTCCC TCCCTTCTCCCTCTCTCCTCCTTTCCTCCTACCTCCCTTTCTGCTGCCTC CCTCCTCCTTCTTCCTCTCCTCCCTCCCTCCTGCTTCCCTCCTCCCTTCC TCCCTCTCTCCTCCCTCCCTCCCTCTCCCCTCCCTCACCCTCCCTCCTCC TCCCTCTTTTCTCCTTCCCTCCTGCTTCCCTCCTCCCTTCCTCCCTCCTG TCTCTCTCCTCCCTCTCTCCTCCCTCCCC	TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	12/13			chr8	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(596): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCC TCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCT TCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTC CCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTT CCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTT CCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCT TCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCCTTCCTC TCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCC TTTC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01070.hp2 HG01074.hp2 others(5): Show HG00323.hp1 HG01070.hp2 HG01074.hp2 HG01106.hp1 HG01258.hp2 HG02300.hp1 HG03927.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0008 a0001c0002t0002g0032 a0001c0002t0002g0057 others(2): Show a0001c0002t0002g0008 a0001c0002t0002g0032 a0001c0002t0002g0057 a0001c0002t0002g0136 a0001c0002t0002g0137	8	334	0.0240	603	c.657 others(618): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCC GTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCC CCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCC TCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTT CCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTT CCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTT CCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCC TTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCC CTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCC TCCCTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TWIST2_chr2_238843085_238915534	238909157	G G	GTGTAGTG others(596): Show GTGTAGTGTGGGGTGTGTGTAGTGTGTGGTATGTTTGTGTGGTGTGTGTG TGTGTATGTGGGGGTGGGGGTGTGGTGTGTTCGTGGGTGTGGTATGTGTA TGTGGTGTGTATGTAGTGTGGGGTGTGTGTAGTGTGTGGTATGTTTGGTG TGTGTTTGTGTATGTGGAGGTGTGGTGTGTTTGTGGTTGTGGTATGTGTA TGTGGTGTGTATGTAGTGGGTGTGTGTAGTGTGTGGTATGTTTGGTGTGT GTGTATGTGGGGGTGGGGTGTGTTTGTGGGTGTGGTATGTGTATGTGGTG TGTAGTGTGGGGTGTGTGTAGTGTGTGGTATGTTTGTGTGGTGTGTGTGT GTGTATGTGGGGGTGGGGGTGTGGTGTGTTCGTGGGTGTGGTATGTGTAT GTGGTGTGTATGTAGTGTGGGGTGTGTGTAGTGTGTGGTATGTTTGTGTG CTGTGTGTGTGTATGTGGGGGTGTGGTGTGTTTGTGGTTGTGGTATGTGT ATGTGGTGTGTATGTAGTGTGGGGTGTGTGTAGTGTGTGGTATGTTTGGT GTGTGTGTGTATGTGGGGGTGGGGTGTGTTCGTGGGTGTGGTATGTGGTG TGTA	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18952.hp1 NA18967.hp1 HG02523.hp2 NA18952.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0067 a0001c0001t0001g0157 a0001c0001t0001g0160	3	338	0.0089	603	c.36 others(618): Show c.36-649_*36-648insTGTGGTGTGTGTGTGTGTATGTGGGGGTGG GGGTGTGGTGTGTTCGTGGGTGTGGTATGTGTATGTGGTGTGTATGTAGT GTGGGGTGTGTGTAGTGTGTGGTATGTTTGGTGTGTGTTTGTGTATGTGG AGGTGTGGTGTGTTTGTGGTTGTGGTATGTGTATGTGGTGTGTATGTAGT GGGTGTGTGTAGTGTGTGGTATGTTTGGTGTGTGTGTATGTGGGGGTGGG GTGTGTTTGTGGGTGTGGTATGTGTATGTGGTGTGTAGTGTGGGGTGTGT GTAGTGTGTGGTATGTTTGTGTGGTGTGTGTGTGTGTATGTGGGGGTGGG GGTGTGGTGTGTTCGTGGGTGTGGTATGTGTATGTGGTGTGTATGTAGTG TGGGGTGTGTGTAGTGTGTGGTATGTTTGTGTGCTGTGTGTGTGTATGTG GGGGTGTGGTGTGTTTGTGGTTGTGGTATGTGTATGTGGTGTGTATGTAG TGTGGGGTGTGTGTAGTGTGTGGTATGTTTGGTGTGTGTGTGTATGTGGG GGTGGGGTGTGTTCGTGGGTGTGGTATGTGGTGTGTATGTAGTGTGGGGT GTGTGTAGTGTGTGGTATGTTTG	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
VCX2_chrX_8164944_8176267	8169438	C C	CCCTCCTC others(596): Show CCCTCCTCCCCCACACACCACCTCTTCCTCCTCCCCTCCCCACACACCAC CTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCCCCTCCCTCC CTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCTCCCCACA CACCACCTCTTCCTCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCC TCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCA CCTCTTCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCC CACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCC TCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCA CACACCACCTCTTCCTCCCCCCTCCCCACACACCACCTCTTCCTCCCTCC TCCCTCCCCACACACCACCTCTTCCTCCTCCCTCCCTCCCCACACACCAC CTCTTCCTCCCTCCCTCCCTCCCACACACCACCTCTTCCTCCCTCCCTCC CTCCCTCCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCACC TCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0013 a0002c0001t0013	a0002c0001t0013g0033 a0002c0001t0013g0033	1	115	0.0087	603	c.59 others(612): Show c.593_*594insAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGAG GGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAGGAAGAG GTGGTGTGTGGGGAGGGAGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGG GGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGG GGAGGGAGGGAGGGAGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGG GAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGGAGGGGGAAGAGGTGGTGTGTGGGGAG GGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGGAGGAGGAAGAGGTG GTGTGTGGGGGAGGAGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		505		chrX	TogoVar
ZBTB34_chr9_126855639_126890878	126876166	C C	CCCCCCTT others(596): Show CCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTCCCCC TTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCC TTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCC TTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCC CCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCT TCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCC CCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT CCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCC CCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCGTTCCCCCTT CCCCCCTTCCCCCTTCCCCCCTTCCTCCTTCCCCCCTTCCCCCTTCCCCC CTTT	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0024 a0002c0003t0002g0024	1	246	0.0041	603	c.-10 others(620): Show c.-10-3209_-10-3208insCCCCCCTTCCCCCTTCCCCCTTCCCCCC TCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCC CCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCT TCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCC CCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT TCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTT CCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCC TTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCC CCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCC CTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCGTTC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCTCCTTCCCCCCTTCCCCCT TCCCCCCTTTCCCCCTTCCCCCCTT	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
ZNF85_chr19_20918251_20955697	20919183	A A	ATATATAT others(596): Show ATATATATACAAGTATATATATATACTTGTATACATATATACTATATATA TACATATATACACATATATACGTATATATGTATATATACATATATACACA TATATACGTATATATGTATATATACATATATACATGTATATACGTATATA CATGTATATACGTATATATACACATATATACATGTATATATACGTATATA TACACATATATACGTATATATACGTATATATACACATATATACGTATATA TACGTATATATACACATATATACATGTATATATATACGTATATATACACA TATATACATGTATATATACATGTATATATACGTACGTATATATACATGTA TATATACGTACGTATATATACACATATATACATGTGTATATATGTGTATA TATACACATATATACATGTATATATATATACGTATATATACATATATACG TATATATATACGTATATATACATATATACATGTATATATATACGTATATA CACATATATATACATGTATATATATATACGTATATACACATATATATACA TGTATATATATATATGTGTATATATACATGTATATATACATATATATACA TGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	383	0.0026	603	c.-42 others(614): Show c.-4218_-4217insTATATATACAAGTATATATATATACTTGTATACA TATATACTATATATATACATATATACACATATATACGTATATATGTATAT ATACATATATACACATATATACGTATATATGTATATATACATATATACAT GTATATACGTATATACATGTATATACGTATATATACACATATATACATGT ATATATACGTATATATACACATATATACGTATATATACGTATATATACAC ATATATACGTATATATACGTATATATACACATATATACATGTATATATAT ACGTATATATACACATATATACATGTATATATACATGTATATATACGTAC GTATATATACATGTATATATACGTACGTATATATACACATATATACATGT GTATATATGTGTATATATACACATATATACATGTATATATATATACGTAT ATATACATATATACGTATATATATACGTATATATACATATATACATGTAT ATATATACGTATATACACATATATATACATGTATATATATATACGTATAT ACACATATATATACATGTATATATATATATGTGTATATATACATGTATAT ATACATATATATACATGTG	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4067		chr19	TogoVar
ACTN2_chr1_236681499_236769631	236714890	T T	TACCACTG others(597): Show TACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGT GTTTATGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGC TTCATTCCTCACTGTGTGTTTATGTATACACAGATACCACTGAAGGGATA TGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAG ATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTG TGTTTATGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAG CTTCATTCCTCACTGTGTGTTTATGTATACACAGATACCACTGAAGGGAT ATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACA GATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGT GTGTTTATGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATA GCTTCATTCCTCACTGTGTGTTTATGTATACACAGATACCACTGAAGGGA TATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACAC AGATA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0337 a0001c0001t0012g0337	1	344	0.0029	604	c.127 others(621): Show c.127-2793_127-2792insCACTGTGTGTTTATGTATACACAGATAC CACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTT TATGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTC ATTCCTCACTGTGTGTTTATGTATACACAGATACCACTGAAGGGATATGC AAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATA CCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGT TTATGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTT CATTCCTCACTGTGTGTTTATGTATACACAGATACCACTGAAGGGATATG CAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGAT AACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGT GTTTATGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGC TTCATTCCTCACTGTGTGTTTATGTATACACAGATACCACTGAAGGGATA TGCAAGAGACTGATAGCTTCATTCCT	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ARHGAP39_chr8_144524179_144690846	144557367	G G	GCTGAACC others(597): Show GCTGAACCTTCGTAGTATTCAGTGGCAAAAGGCTGAACCTTCGTAGTATT CAGAGGCAAAGCCTGAACCTTCGTAGTATTCAGAGGCAAAGGCTGAACCT TCGTAGTATTCAGAGGCAAAGGCTGAACCTTCATAGTATTCAGAGGCAAA GGCTGAACCTTCACGGTATTCAGAGGCAAAGGCTGAACCTTCACAGTATT CAGATGCAAAAGCCTGAACCTTCATAGTATTCAGAGGCAAAGGCTGAACC TTCATAGTATTCAGTGGCAAAAGGCTGAACCTTCGTAGTATTCAGAGGCA AAGGCTGAACCTTCGTAGTATTCAGAGGCAAAGCCTGAACCTTCATAGTA TTCAGAGGCAAAGGCTGAACCTTCATAGTATTCAGAGGCAAAGGCTGAAC CTTCATAGTATTCAGTGGCAAAAGGCTGAACCTTCCTAGTATTCAGAGGC AAAGGCTGAACCTTCCTAGTATTCAGAGGCAAAGCCTGAACCTTCATAGT ATTCAGAGGCAAAGGCTGAACCTTCATAGTATTCAGAGGCAAAGCCTGAA CCTTCATAGTATTCAGAGGCAAAGCCTGAACCTTCATAGTATTCAGAGGC AAAGC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0145 a0001c0001t0002g0145	1	246	0.0041	604	c.513 others(621): Show c.513-1725_513-1724insGCTTTGCCTCTGAATACTATGAAGGTTC AGGCTTTGCCTCTGAATACTATGAAGGTTCAGGCTTTGCCTCTGAATACT ATGAAGGTTCAGCCTTTGCCTCTGAATACTATGAAGGTTCAGGCTTTGCC TCTGAATACTAGGAAGGTTCAGCCTTTGCCTCTGAATACTAGGAAGGTTC AGCCTTTTGCCACTGAATACTATGAAGGTTCAGCCTTTGCCTCTGAATAC TATGAAGGTTCAGCCTTTGCCTCTGAATACTATGAAGGTTCAGGCTTTGC CTCTGAATACTACGAAGGTTCAGCCTTTGCCTCTGAATACTACGAAGGTT CAGCCTTTTGCCACTGAATACTATGAAGGTTCAGCCTTTGCCTCTGAATA CTATGAAGGTTCAGGCTTTTGCATCTGAATACTGTGAAGGTTCAGCCTTT GCCTCTGAATACCGTGAAGGTTCAGCCTTTGCCTCTGAATACTATGAAGG TTCAGCCTTTGCCTCTGAATACTACGAAGGTTCAGCCTTTGCCTCTGAAT ACTACGAAGGTTCAGGCTTTGCCTCTGAATACTACGAAGGTTCAGCCTTT TGCCACTGAATACTACGAAGGTTCAG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	3/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144557367	G G	GCTGAACC others(597): Show GCTGAACCTTCGTAGTATTCAGTGGCAAAAGGCTGAACCTTCGTAGTATT CAGAGGCAAAGCCTGAACCTTCGTAGTATTCAGAGGCAAAGGCTGAACCT TCGTAGTATTCAGAGGCAAAGGCTGAACCTTCATAGTATTCAGAGGCAAA GGCTGAACCTTCATGGTATTCAGAGGCAAAGGCTGAACCTTCACAGTATT CAGATGCAAAAGCCTGAACCTTCATAGTATTCAGAGGCAAAGGCTGAACC TTCATAGTATTCAGTGGCAAAAGGCTGAACCTTCGTAGTATTCAGAGGCA AAGGCTGAACCTTCGTAGTATTCAGAGGCAAAGCCTGAACCTTCATAGTA TTCAGAGGCAAAGGCTGAACCTTCATAGTATTCAGAGGCAAAGGCTGAAC CTTCATAGTATTCAGTGGCAAAAGGCTGAACCTTCCTAGTATTCAGAGGC AAAGGCTGAACCTTCATAGTATTCAGAGGCAAAGCCTGAACCTTCATAGT ACTCAGAGGCAAAGGCTGAACCTTCATAGTATTCAGAGGCAAAGCCTGAA CCTTCATAGTATTCAGAGGCAAAGCCTGAACCTTCATAGTATTCAGAGGC AAAGC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02896.hp2 HG02895.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0234 a0001c0001t0002g0235	2	246	0.0081	604	c.513 others(621): Show c.513-1725_513-1724insGCTTTGCCTCTGAATACTATGAAGGTTC AGGCTTTGCCTCTGAATACTATGAAGGTTCAGGCTTTGCCTCTGAATACT ATGAAGGTTCAGCCTTTGCCTCTGAGTACTATGAAGGTTCAGGCTTTGCC TCTGAATACTATGAAGGTTCAGCCTTTGCCTCTGAATACTAGGAAGGTTC AGCCTTTTGCCACTGAATACTATGAAGGTTCAGCCTTTGCCTCTGAATAC TATGAAGGTTCAGCCTTTGCCTCTGAATACTATGAAGGTTCAGGCTTTGC CTCTGAATACTACGAAGGTTCAGCCTTTGCCTCTGAATACTACGAAGGTT CAGCCTTTTGCCACTGAATACTATGAAGGTTCAGCCTTTGCCTCTGAATA CTATGAAGGTTCAGGCTTTTGCATCTGAATACTGTGAAGGTTCAGCCTTT GCCTCTGAATACCATGAAGGTTCAGCCTTTGCCTCTGAATACTATGAAGG TTCAGCCTTTGCCTCTGAATACTACGAAGGTTCAGCCTTTGCCTCTGAAT ACTACGAAGGTTCAGGCTTTGCCTCTGAATACTACGAAGGTTCAGCCTTT TGCCACTGAATACTACGAAGGTTCAG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	3/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144557367	G G	GCTGAACC others(597): Show GCTGAACCTTCGTAGTATTCAGTGGCAAAAGGCTGAACCTTCGTAGTATT CAGAGGCAAAGCCTGAACCTTCGTAGTATTCAGAGGCAAAGGCTGAACCT TCGTAGTATTCAGAGGCAAAGGCTGAACCTTCATAGTATTCAGAGGCAAA GGCTGAACCTTCATGGTATTCAGAGGCAAAGGCTGAACCTTCACAGTATT CAGATGCAAAAGCCTGAACCTTCATAGTATTCAGAGGCAAAGGCTGAACC TTCATAGTATTCAGTGGCAAAAGGCTGAACCTTCGTAGTATTCAGAGGCA AAGGCTGAACCTTCGTAGTATTCAGAGGCAAAGCCTGAACCTTCATAGTA TTCAGAGGCAAAGGCTGAACCTTCATAGTATTCAGAGGCAAAGGCTGAAC CTTCATAGTATTCAGTGGCAAAAGGCTGAACCTTCCTAGTATTCAGAGGC AAAGGCTGAACCTTCATAGTATTCAGAGGCAAAGCCTGAACCTTCATAGT ATTCAGAGGCAAAGGCTGAACCTTCATAGTATTCAGAGGCAAAGCCTGAA CCTTCATAGTATTCAGAGGCAAAGCCTGAACCTTCATAGTATTCAGAGGC AAAGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(162): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp2 HG01516.hp2 HG01891.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG02922.hp1 HG02965.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03225.hp2 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03688.hp2 HG03927.hp1 HG03927.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18984.hp1 NA18984.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19074.hp1 NA19082.hp1 NA19082.hp2 NA19087.hp1 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0012 a0001c0015 a0001c0016 a0002c0008 a0003c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0002t0001 a0001c0002t0009 a0001c0002t0019 a0001c0002t0022 a0001c0002t0023 a0001c0003t0001 a0001c0006t0001 a0001c0007t0003 a0001c0012t0002 a0001c0015t0001 a0001c0016t0001 a0002c0008t0001 a0003c0011t0001	a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 others(162): Show a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0077 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0107 a0001c0001t0001g0122 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0163 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0236 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0002g0123 a0001c0001t0002g0131 a0001c0001t0002g0138 a0001c0001t0002g0157 a0001c0001t0002g0241 a0001c0001t0005g0185 a0001c0001t0005g0186 a0001c0001t0005g0187 a0001c0001t0005g0188 a0001c0001t0005g0189 a0001c0001t0005g0243 a0001c0001t0007g0168 a0001c0001t0011g0046 a0001c0001t0012g0040 a0001c0001t0013g0192 a0001c0001t0014g0054 a0001c0001t0015g0180 a0001c0001t0016g0105 a0001c0001t0018g0022 a0001c0002t0001g0003 a0001c0002t0001g0007 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0035 a0001c0002t0001g0041 a0001c0002t0001g0051 a0001c0002t0001g0066 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0092 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0109 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0124 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0133 a0001c0002t0001g0137 a0001c0002t0001g0140 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0165 a0001c0002t0001g0167 a0001c0002t0001g0169 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0218 a0001c0002t0001g0222 a0001c0002t0001g0242 a0001c0002t0009g0028 a0001c0002t0019g0125 a0001c0002t0022g0217 a0001c0002t0023g0246 a0001c0003t0001g0014 a0001c0006t0001g0171 a0001c0006t0001g0181 a0001c0006t0001g0182 a0001c0006t0001g0193 a0001c0007t0003g0118 a0001c0012t0002g0128 a0001c0015t0001g0101 a0001c0016t0001g0091 a0002c0008t0001g0067 a0002c0008t0001g0142 a0003c0011t0001g0072	165	246	0.6707	604	c.513 others(621): Show c.513-1725_513-1724insGCTTTGCCTCTGAATACTATGAAGGTTC AGGCTTTGCCTCTGAATACTATGAAGGTTCAGGCTTTGCCTCTGAATACT ATGAAGGTTCAGCCTTTGCCTCTGAATACTATGAAGGTTCAGGCTTTGCC TCTGAATACTATGAAGGTTCAGCCTTTGCCTCTGAATACTAGGAAGGTTC AGCCTTTTGCCACTGAATACTATGAAGGTTCAGCCTTTGCCTCTGAATAC TATGAAGGTTCAGCCTTTGCCTCTGAATACTATGAAGGTTCAGGCTTTGC CTCTGAATACTACGAAGGTTCAGCCTTTGCCTCTGAATACTACGAAGGTT CAGCCTTTTGCCACTGAATACTATGAAGGTTCAGCCTTTGCCTCTGAATA CTATGAAGGTTCAGGCTTTTGCATCTGAATACTGTGAAGGTTCAGCCTTT GCCTCTGAATACCATGAAGGTTCAGCCTTTGCCTCTGAATACTATGAAGG TTCAGCCTTTGCCTCTGAATACTACGAAGGTTCAGCCTTTGCCTCTGAAT ACTACGAAGGTTCAGGCTTTGCCTCTGAATACTACGAAGGTTCAGCCTTT TGCCACTGAATACTACGAAGGTTCAG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	3/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144557367	G G	GCTGAACC others(597): Show GCTGAACCTTCGTAGTATTCAGTGGCAAAAGGCTGAACCTTCGTAGTATT CAGAGGCAAAGCCTGAACCTTCGTAGTATTCAGAGGCAAAGGCTGAACCT TCGTAGTATTCAGAGGCAAAGGCTGAACCTTCATAGTATTCAGAGGCAAA GGCTGAACCTTCATGGTATTCAGAGGCAAAGGCTGAACCTTCACAGTATT CAGATGCAAAAGCCTGAACCTTCATAGTATTCAGAGGCAAAGGCTGAACC TTCATAGTATTCAGTGGCAAAAGGCTGAACCTTCGTAGTATTCAGAGGCA AAGGCTGAACCTTCGTAGTATTCAGAGGCAAAGCCTGAACCTTCATAGTA TTCAGAGGCAAAGGCTGAACCTTCATAGTATTCAGAGGCAAAGGCTGAAC CTTCATAGTATTCAGTGGCAAAAGGCTGAACCTTCCTAGTATTCAGAGGC AAAGGCTGAACCTTCATAGTATTCAGAGGCAAAGCCTGAACTTTCATAGT ATTCAGAGGCAAAGGCTGAACCTTCATAGTATTCAGAGGCAAAGCCTGAA CCTTCATAGTATTCAGAGGCAAAGCCTGAACCTTCATAGTATTCAGAGGC AAAGC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01981.hp1 HG02738.hp1 others(1): Show HG01099.hp1 HG01981.hp1 HG02738.hp1 HG04228.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0093 a0001c0002t0001g0119 a0001c0002t0001g0147 others(1): Show a0001c0002t0001g0093 a0001c0002t0001g0119 a0001c0002t0001g0147 a0001c0002t0001g0216	4	246	0.0163	604	c.513 others(621): Show c.513-1725_513-1724insGCTTTGCCTCTGAATACTATGAAGGTTC AGGCTTTGCCTCTGAATACTATGAAGGTTCAGGCTTTGCCTCTGAATACT ATGAAGGTTCAGCCTTTGCCTCTGAATACTATGAAAGTTCAGGCTTTGCC TCTGAATACTATGAAGGTTCAGCCTTTGCCTCTGAATACTAGGAAGGTTC AGCCTTTTGCCACTGAATACTATGAAGGTTCAGCCTTTGCCTCTGAATAC TATGAAGGTTCAGCCTTTGCCTCTGAATACTATGAAGGTTCAGGCTTTGC CTCTGAATACTACGAAGGTTCAGCCTTTGCCTCTGAATACTACGAAGGTT CAGCCTTTTGCCACTGAATACTATGAAGGTTCAGCCTTTGCCTCTGAATA CTATGAAGGTTCAGGCTTTTGCATCTGAATACTGTGAAGGTTCAGCCTTT GCCTCTGAATACCATGAAGGTTCAGCCTTTGCCTCTGAATACTATGAAGG TTCAGCCTTTGCCTCTGAATACTACGAAGGTTCAGCCTTTGCCTCTGAAT ACTACGAAGGTTCAGGCTTTGCCTCTGAATACTACGAAGGTTCAGCCTTT TGCCACTGAATACTACGAAGGTTCAG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	3/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144557367	G G	GCTGAACC others(597): Show GCTGAACCTTCGTAGTATTCAGTGGCAAAAGGCTGAACCTTCGTAGTATT CAGAGGCAAAGCCTGAACCTTCGTAGTATTCAGAGGCAAAGGCTGAACCT TCGTAGTATTCAGAGGCAAAGGCTGAACCTTCATAGTATTCAGAGGCAAA GGCTGAACCTTCATGGTATTCAGAGGCAAAGGCTGAACCTTCACAGTATT CAGATGCAAAAGCCTGAACCTTCATAGTATTCAGAGGCAAAGGCTGAACC TTCATAGTATTCAGTGGCAAAAGGCTGAACCTTCGTAGTATTCAGAGGCA AAGGCTGAACCTTCGTAGTATTCAGAGGCAAAGCCTGAACCTTCATAGTA TTCAGAGGCAAAGGCTGAACCTTCATAGTATTCAGAGGCAAAGGCTGAAC CTTCATAGTATTCAGTGGCAAAAGGCTGAACCTTCCTAGTATTCAGAGGC AAAGGCTGAACCTTCCTAGTATTCAGAGGCAAAGCCTGAACCTTCATAGT ATTCAGAGGCAAAGGCTGAACCTTCATAGTATTCAGAGGCAAAGCCTGAA CCTTCATAGTATTCAGAGGCAAAGCCTGAACCTTCATAGTATTCAGAGGC AAAGC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02280.hp2 HG03225.hp1 HG02109.hp2 HG02280.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0020 a0001c0001t0002 a0001c0001t0020	a0001c0001t0002g0139 a0001c0001t0002g0170 a0001c0001t0020g0079 a0001c0001t0002g0139 a0001c0001t0002g0170 a0001c0001t0020g0079	3	246	0.0122	604	c.513 others(621): Show c.513-1725_513-1724insGCTTTGCCTCTGAATACTATGAAGGTTC AGGCTTTGCCTCTGAATACTATGAAGGTTCAGGCTTTGCCTCTGAATACT ATGAAGGTTCAGCCTTTGCCTCTGAATACTATGAAGGTTCAGGCTTTGCC TCTGAATACTAGGAAGGTTCAGCCTTTGCCTCTGAATACTAGGAAGGTTC AGCCTTTTGCCACTGAATACTATGAAGGTTCAGCCTTTGCCTCTGAATAC TATGAAGGTTCAGCCTTTGCCTCTGAATACTATGAAGGTTCAGGCTTTGC CTCTGAATACTACGAAGGTTCAGCCTTTGCCTCTGAATACTACGAAGGTT CAGCCTTTTGCCACTGAATACTATGAAGGTTCAGCCTTTGCCTCTGAATA CTATGAAGGTTCAGGCTTTTGCATCTGAATACTGTGAAGGTTCAGCCTTT GCCTCTGAATACCATGAAGGTTCAGCCTTTGCCTCTGAATACTATGAAGG TTCAGCCTTTGCCTCTGAATACTACGAAGGTTCAGCCTTTGCCTCTGAAT ACTACGAAGGTTCAGGCTTTGCCTCTGAATACTACGAAGGTTCAGCCTTT TGCCACTGAATACTACGAAGGTTCAG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	3/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144557367	G G	GCTGAACC others(597): Show GCTGAACCTTCGTAGTATTCAGTGGCAAAAGGCTGAACCTTCGTAGTATT CAGAGGCAAAGCCTGAACCTTCGTAGTATTCAGAGGCAAAGGCTGAACCT TCGTAGTATTCAGAGGCAAAGGCTGAACCTTCATAGTATTCAGAGGCAAA GGCTGAACCTTCATGGTATTCAGAGGCAAAGGCTGAACCTTCACAGTATT CAGATGCAAAAGCCTGAACCTTCATAGTATTCAGAGGCAAAGGCTGAACC TTCATAGTATTCAGTGGCAAAAGGCTGAACCTTCGTAGTATTCAGAGGCA AAGGCTGAACCTTCGTAGTATTCAGAGGCAAAGCCTGAACCTTCATAGTA TTCAGAGGCAAAGGCTGAACCTTCATAGTATTCAGAGGCAAAGGCTGAAC CTTCATAGTATTCAGTGGCAAAAGGCTGAACCTTCGTAGTATTCAGAGGC AAAGGCTGAACCTTCGTAGTATTCAGAGGCAAAGCCTGAACCTTCATAGT ATTCAGAGGCAAAGGCTGAACCTTCATAGTATTCAGAGGCAAAGCCTGAA CCTTCATAGTATTCAGAGGCAAAGCCTGAACCTTCATAGTATTCAGAGGC AAAGC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02809.hp1 HG02895.hp2 others(2): Show HG01891.hp1 HG02809.hp1 HG02895.hp2 HG02896.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0063 a0001c0001t0003g0068 a0001c0001t0003g0071 others(2): Show a0001c0001t0003g0063 a0001c0001t0003g0068 a0001c0001t0003g0071 a0001c0001t0003g0076 a0001c0001t0003g0084	5	246	0.0203	604	c.513 others(621): Show c.513-1725_513-1724insGCTTTGCCTCTGAATACTATGAAGGTTC AGGCTTTGCCTCTGAATACTATGAAGGTTCAGGCTTTGCCTCTGAATACT ATGAAGGTTCAGCCTTTGCCTCTGAATACTATGAAGGTTCAGGCTTTGCC TCTGAATACTACGAAGGTTCAGCCTTTGCCTCTGAATACTACGAAGGTTC AGCCTTTTGCCACTGAATACTATGAAGGTTCAGCCTTTGCCTCTGAATAC TATGAAGGTTCAGCCTTTGCCTCTGAATACTATGAAGGTTCAGGCTTTGC CTCTGAATACTACGAAGGTTCAGCCTTTGCCTCTGAATACTACGAAGGTT CAGCCTTTTGCCACTGAATACTATGAAGGTTCAGCCTTTGCCTCTGAATA CTATGAAGGTTCAGGCTTTTGCATCTGAATACTGTGAAGGTTCAGCCTTT GCCTCTGAATACCATGAAGGTTCAGCCTTTGCCTCTGAATACTATGAAGG TTCAGCCTTTGCCTCTGAATACTACGAAGGTTCAGCCTTTGCCTCTGAAT ACTACGAAGGTTCAGGCTTTGCCTCTGAATACTACGAAGGTTCAGCCTTT TGCCACTGAATACTACGAAGGTTCAG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	3/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144557367	G G	GCTGAACC others(597): Show GCTGAACCTTCGTAGTATTCAGTGGCAAAAGGCTGAACCTTCGTAGTATT CAGAGGCAAAGCCTGAACCTTCGTAGTATTCAGAGGCAAAGGCTGAACCT TCGTAGTATTCAGAGGCAAAGGCTGAACCTTCATAGTATTCAGAGGCAAA GGCTGAACCTTCATGGTATTCAGAGGCAAAGGCTGAACCTTCACGGTATT CAGATGCAAAAGCCTGAACCTTCATAGTATTCAGAGGCAAAGGCTGAACC TTCATAGTATTCAGTGGCAAAAGGCTGAACCTTCGTAGTATTCAGAGGCA AAGGCTGAACCTTCGTAGTATTCAGAGGCAAAGCCTGAACCTTCATAGTA TTCAGAGGCAAAGGCTGAACCTTCATAGTATTCAGAGGCAAAGGCTGAAC CTTCATAGTATTCAGTGGCAAAAGGCTGAACCTTCCTAGTATTCAGAGGC AAAGGCTGAACCTTCATAGTATTCAGAGGCAAAGCCTGAACCTTCATAGT ATTCAGAGGCAAAGGCTGAACCTTCATAGTATTCAGAGGCAAAGCCTGAA CCTTCATAGTATTCAGAGGCAAAGCCTGAACCTTCATAGTATTCAGAGGC AAAGC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02735.hp1 NA18999.hp1 HG02717.hp2 HG02735.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0048 a0001c0001t0001g0203 a0001c0001t0001g0016 a0001c0001t0001g0048 a0001c0001t0001g0203	3	246	0.0122	604	c.513 others(621): Show c.513-1725_513-1724insGCTTTGCCTCTGAATACTATGAAGGTTC AGGCTTTGCCTCTGAATACTATGAAGGTTCAGGCTTTGCCTCTGAATACT ATGAAGGTTCAGCCTTTGCCTCTGAATACTATGAAGGTTCAGGCTTTGCC TCTGAATACTATGAAGGTTCAGCCTTTGCCTCTGAATACTAGGAAGGTTC AGCCTTTTGCCACTGAATACTATGAAGGTTCAGCCTTTGCCTCTGAATAC TATGAAGGTTCAGCCTTTGCCTCTGAATACTATGAAGGTTCAGGCTTTGC CTCTGAATACTACGAAGGTTCAGCCTTTGCCTCTGAATACTACGAAGGTT CAGCCTTTTGCCACTGAATACTATGAAGGTTCAGCCTTTGCCTCTGAATA CTATGAAGGTTCAGGCTTTTGCATCTGAATACCGTGAAGGTTCAGCCTTT GCCTCTGAATACCATGAAGGTTCAGCCTTTGCCTCTGAATACTATGAAGG TTCAGCCTTTGCCTCTGAATACTACGAAGGTTCAGCCTTTGCCTCTGAAT ACTACGAAGGTTCAGGCTTTGCCTCTGAATACTACGAAGGTTCAGCCTTT TGCCACTGAATACTACGAAGGTTCAG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	3/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144557367	G G	GCTGAACC others(597): Show GCTGAACCTTCGTAGTATTCAGTGGCAAAAGGCTGAACCTTCGTAGTATT CAGAGGCAAAGCCTGAACCTTCGTAGTATTCAGAGGCAAAGGCTGAACCT TCGTAGTATTCAGAGGCAAAGGCTGAACCTTCGTAGTATTCAGAGGCAAA GGCTGAACCTTCATGGTATTCAGAGGCAAAGGCTGAACCTTCACAGTATT CAGATGCAAAAGCCTGAACCTTCATAGTATTCAGAGGCAAAGGCTGAACC TTCATAGTATTCAGTGGCAAAAGGCTGAACCTTCGTAGTATTCAGAGGCA AAGGCTGAACCTTCGTAGTATTCAGAGGCAAAGCCTGAACCTTCATAGTA TTCAGAGGCAAAGGCTGAACCTTCATAGTATTCAGAGGCAAAGGCTGAAC CTTCATAGTATTCAGTGGCAAAAGGCTGAACCTTCCTAGTATTCAGAGGC AAAGGCTGAACCTTCATAGTATTCAGAGGCAAAGCCTGAACCTTCATAGT ATTCAGAGGCAAAGGCTGAACCTTCATAGTATTCAGAGGCAAAGCCTGAA CCTTCATAGTATTCAGAGGCAAAGCCTGAACCTTCATAGTATTCAGAGGC AAAGC	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0038 a0001c0002t0001g0038	1	246	0.0041	604	c.513 others(621): Show c.513-1725_513-1724insGCTTTGCCTCTGAATACTATGAAGGTTC AGGCTTTGCCTCTGAATACTATGAAGGTTCAGGCTTTGCCTCTGAATACT ATGAAGGTTCAGCCTTTGCCTCTGAATACTATGAAGGTTCAGGCTTTGCC TCTGAATACTATGAAGGTTCAGCCTTTGCCTCTGAATACTAGGAAGGTTC AGCCTTTTGCCACTGAATACTATGAAGGTTCAGCCTTTGCCTCTGAATAC TATGAAGGTTCAGCCTTTGCCTCTGAATACTATGAAGGTTCAGGCTTTGC CTCTGAATACTACGAAGGTTCAGCCTTTGCCTCTGAATACTACGAAGGTT CAGCCTTTTGCCACTGAATACTATGAAGGTTCAGCCTTTGCCTCTGAATA CTATGAAGGTTCAGGCTTTTGCATCTGAATACTGTGAAGGTTCAGCCTTT GCCTCTGAATACCATGAAGGTTCAGCCTTTGCCTCTGAATACTACGAAGG TTCAGCCTTTGCCTCTGAATACTACGAAGGTTCAGCCTTTGCCTCTGAAT ACTACGAAGGTTCAGGCTTTGCCTCTGAATACTACGAAGGTTCAGCCTTT TGCCACTGAATACTACGAAGGTTCAG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	3/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687797	C C	CGTGACCA others(597): Show CGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTG GCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCC CACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACT CATTTACAGCGAGCACTTCCCACCCCCGTGACCACACACCAGCAGTGAGC ACTTCCCACCCCCGTGACCACACACTAGCAGTGAGCACTTCCCACCCCGT GACCACACACTGGCGGTGAGCACTTCCCACCCCCGTGACCACACACTGGC GGTGAGCACTTCCCACCCCGTGACCACTCATTTACAGCGAGCACTTCCCA CCCCCGTGACCACACACCAGCAGTGAGCACTTCCCACCCCCGTGACCACA CACTAGCAGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGCGACCA TTTCCCACCCCCGTGACCACGCACTGGCGGCGACCATTTCCCACCCCCGT GACCACGCACTGGCGGCGAGCACTTCCCACCCCCGTGACCACACACTAGC AGTGAGCACTTCCCACCCCGTGACCACACATTTACAGTGAGCACTTCCCA CCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	246	0.0041	604	c.-21 others(615): Show c.-2194_-2193insAGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTC ACGGGGTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGT GCTCGCCGCCAGTGCGTGGTCACGGGGGTGGGAAATGGTCGCCGCCAGTG CGTGGTCACGGGGGTGGGAAATGGTCGCCGCCAGTGTGTGGTCACGGGGT GGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACT GCTGGTGTGTGGTCACGGGGGTGGGAAGTGCTCGCTGTAAATGAGTGGTC ACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGGTGGGAAGT GCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACTGCTAGTGT GTGGTCACGGGGGTGGGAAGTGCTCACTGCTGGTGTGTGGTCACGGGGGT GGGAAGTGCTCGCTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCACCG CCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCAC GGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCT CACCGCCAGTGTGTGGTCAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1952		chr8	TogoVar
ARHGEF3_chr3_56722420_56806949	56731592	C C	CCGGGTTT others(597): Show CCGGGTTTTAAGTTTTCTTTTTTTTTTTTTTTTTTTTGGTGAAAGTTGCC ATTAATTGTTTATTATCATTAAAAATAAATACATATGTTTCACTTCACAT GTGTTACACAGGTGCTTAATATTTTATTAATATAAATGCATAATTCATTT GCTCTTCACAACCACAAAAACTAGATACATGATTATTCCCATTTTGCAGA TAAGGAAACTAACACCCAAGTGAAATACTTTACCAAAGGTCACATAGGTA GTAAGTAACAACTGTGTGATCAGAGGAGAGCATTATCTCCAAACTTCGTG AGAGACACATATAAGCAATTAGTCCCTTACAGACTAAGAAATTTTGATAC AGACAATTTGTTGCAGATTCATAAGATAGTACAGCCAGTTCTGTGAATCA CAGTGTTATATTTATTTCCACATATTCTATGTTAATAATATAATTTTTAA TTCCATGTATTTTAAGTTTTCATTCAATAACTGCTATAAGTATATGCAGC TCTGAGAACAAGGGGGAAGAGAATAATTTCAGCCATTTAAAAATAGCTTT TATATTTAGATTTAAATATTTCAGTTGCTTTTTTTTTTTTTTTTTTTTTT ACTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp2 HG00597.hp1 others(61): Show HG00280.hp2 HG00544.hp2 HG00597.hp1 HG00639.hp2 HG00738.hp1 HG01123.hp2 HG01256.hp1 HG01258.hp1 HG01891.hp2 HG01981.hp2 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02135.hp1 HG02145.hp1 HG02155.hp2 HG02165.hp1 HG02258.hp2 HG02486.hp2 HG02602.hp1 HG02723.hp1 HG02735.hp1 HG02896.hp1 HG02897.hp1 HG03017.hp1 HG03017.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03669.hp1 HG03704.hp1 HG03834.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18612.hp2 NA18940.hp1 NA18941.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18960.hp1 NA18969.hp1 NA18970.hp2 NA18972.hp1 NA18990.hp2 NA18995.hp2 NA19000.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19030.hp1 NA19057.hp1 NA19066.hp1 NA19084.hp1 NA19086.hp1 NA19087.hp1 NA19090.hp2 NA19091.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0009 a0001c0002 a0001c0006 a0001c0009	a0001c0002t0002 a0001c0002t0006 a0001c0002t0010 others(3): Show a0001c0002t0002 a0001c0002t0006 a0001c0002t0010 a0001c0006t0002 a0001c0006t0018 a0001c0009t0002	a0001c0002t0002g0003 a0001c0002t0002g0018 a0001c0002t0002g0019 others(59): Show a0001c0002t0002g0003 a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0026 a0001c0002t0002g0028 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0048 a0001c0002t0002g0052 a0001c0002t0002g0059 a0001c0002t0002g0061 a0001c0002t0002g0122 a0001c0002t0002g0123 a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0002t0002g0128 a0001c0002t0002g0129 a0001c0002t0002g0142 a0001c0002t0002g0149 a0001c0002t0002g0169 a0001c0002t0002g0170 a0001c0002t0002g0200 a0001c0002t0002g0215 a0001c0002t0002g0219 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0002g0247 a0001c0002t0002g0265 a0001c0002t0002g0266 a0001c0002t0006g0006 a0001c0002t0006g0008 a0001c0002t0010g0009 a0001c0006t0002g0005 a0001c0006t0002g0271 a0001c0006t0002g0275 a0001c0006t0002g0276 a0001c0006t0002g0281 a0001c0006t0002g0287 a0001c0006t0002g0296 a0001c0006t0002g0298 a0001c0006t0002g0329 a0001c0006t0002g0333 a0001c0006t0002g0336 a0001c0006t0002g0337 a0001c0006t0002g0342 a0001c0006t0002g0345 a0001c0006t0002g0346 a0001c0006t0002g0347 a0001c0006t0002g0350 a0001c0006t0018g0353 a0001c0009t0002g0017	64	358	0.1788	604	c.122 others(621): Show c.1228+645_1228+646insAAAGTAAAAAAAAAAAAAAAAAAAAAAG CAACTGAAATATTTAAATCTAAATATAAAAGCTATTTTTAAATGGCTGAA ATTATTCTCTTCCCCCTTGTTCTCAGAGCTGCATATACTTATAGCAGTTA TTGAATGAAAACTTAAAATACATGGAATTAAAAATTATATTATTAACATA GAATATGTGGAAATAAATATAACACTGTGATTCACAGAACTGGCTGTACT ATCTTATGAATCTGCAACAAATTGTCTGTATCAAAATTTCTTAGTCTGTA AGGGACTAATTGCTTATATGTGTCTCTCACGAAGTTTGGAGATAATGCTC TCCTCTGATCACACAGTTGTTACTTACTACCTATGTGACCTTTGGTAAAG TATTTCACTTGGGTGTTAGTTTCCTTATCTGCAAAATGGGAATAATCATG TATCTAGTTTTTGTGGTTGTGAAGAGCAAATGAATTATGCATTTATATTA ATAAAATATTAAGCACCTGTGTAACACATGTGAAGTGAAACATATGTATT TATTTTTAATGATAATAAACAATTAATGGCAACTTTCACCAAAAAAAAAA AAAAAAAAAAGAAAACTTAAAACCCG	ARHGEF3	ENSG00000163947.12	transcript	ENST00000296315.8	protein_coding	9/9			chr3	TogoVar
ASTN2_chr9_116418112_117420057	116840551	G G	GGGGGCTG others(597): Show GGGGGCTGACCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGT GTGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACT TCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCGCCACCTCCCT CCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGACCCTCACCTCCCGGACGGGGCGGCTGGCCAG GCGGGGGGCTGACCCCCCCACCTGCCTCCCGGACGGAGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTC CCTCCCAGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGACCCTCACCTCCCGGACGGGGTGGCTGGC CGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCC GGGCGAGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCG GGCGA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp2 HG02109.hp1 others(4): Show HG01243.hp2 HG01891.hp2 HG02109.hp1 HG03209.hp1 HG03209.hp2 NA19043.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0002c0004	a0001c0001t0001 a0001c0002t0002 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0012 a0001c0005t0005 a0001c0008t0005 a0002c0004t0005	a0001c0001t0001g0099 a0001c0002t0002g0046 a0001c0003t0001g0038 others(4): Show a0001c0001t0001g0099 a0001c0002t0002g0046 a0001c0003t0001g0038 a0001c0003t0012g0001 a0001c0005t0005g0007 a0001c0008t0005g0073 a0002c0004t0005g0006	7	102	0.0686	604	c.204 others(625): Show c.2041-19769_2041-19768insTCGCCCGGCCAGCCACCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCTCGCCCGGCCAGCCACCCCGTCCGG GAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCACCCCGTCCGGG AGGTGAGGGTCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCACCCCGTCTGGGAGGGAGGTGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCTCCGTC CGGGAGGCAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCC GGGAGGTGAGGGTCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGCGGGGTCAG CCCCCCACCCGGCCAGCCGCCCCGTCCGGGAAGTGAGGGGCGCCTCTGCC CAGCCGCCCCTACTGGGAAGTGAGGAGCCACACTGCCCGGCCAGCCGCCC TGTCCGGGAGGGAGGTGGGGGGTCAGCCCC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	11/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116840551	G G	GGGGGCTG others(597): Show GGGGGCTGACCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGT GTGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACT TCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCGCCACGTCCCT CCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGACCCTCACCTCCCGGACGGGGCGGCTGGCCAG GCGGGGGGCTGACCCCCCCACCTGCCTCCCGGACGGAGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTC CCTCCCAGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGACCCTCACCTCCCGGACGGGGTGGCTGGC CGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCC GGGCGAGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCG GGCGA	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA18906.hp1 HG03540.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0014 a0001c0003t0006 a0001c0003t0014	a0001c0003t0006g0017 a0001c0003t0014g0083 a0001c0003t0006g0017 a0001c0003t0014g0083	2	102	0.0196	604	c.204 others(625): Show c.2041-19769_2041-19768insTCGCCCGGCCAGCCACCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCTCGCCCGGCCAGCCACCCCGTCCGG GAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCACCCCGTCCGGG AGGTGAGGGTCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCACCCCGTCTGGGAGGGAGGTGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCTCCGTC CGGGAGGCAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCC GGGAGGTGAGGGTCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCTGGCCAGCCGCCCCGTCCGGGAGGGACGTGGCGGGGTCAG CCCCCCACCCGGCCAGCCGCCCCGTCCGGGAAGTGAGGGGCGCCTCTGCC CAGCCGCCCCTACTGGGAAGTGAGGAGCCACACTGCCCGGCCAGCCGCCC TGTCCGGGAGGGAGGTGGGGGGTCAGCCCC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	11/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116840565	C C	CACCTCCC others(597): Show CACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGTGTGGCTCCTCACTT CCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACTTCCCGGACGGGGCG GCTGGCCGGGTGGGGGGCTGACCCCGCCACCTCCCTCCCGGACGGGGCGG CTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGACCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACC CCCCCACCTGCCTCCCGGACGGAGCGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCCAGACGGGG TGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGACCCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTG ATCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGAGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGAGGGGCTGAC CCCCT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0016 a0001c0001t0006g0016	1	102	0.0098	604	c.204 others(625): Show c.2041-19783_2041-19782insAGGGGGTCAGCCCCTCGCCCGGCC AGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCTCGCCCGGCCA GCCACCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAG CCACCCCGTCCGGGAGGTGAGGGTCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCACCCCGTCTGGGAGGGAGGT GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCTCCGTCCGGGAGGCAGGTGGGGGGGTCAGCCCCCCGCCTGGC CAGCCGCCCCGTCCGGGAGGTGAGGGTCGCCTCTGCCCGGCCGCCCCTAC TGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGCGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAAGTGA GGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCACACTGC CCGGCCAGCCGCCCTGTCCGGGAGGGAGGT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	11/22			chr9	TogoVar
AZU1_chr19_822837_837018	835512	A A	AGGCCCCG others(597): Show AGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGAC GCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCC CCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGC AGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCC AGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC GCGTGCGGCCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CGGGCCCCGACGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCCACCCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0002 a0009c0012t0001g0002	1	391	0.0026	604	c.36 others(615): Show c.3635_*3636insGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCC CGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCC CCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTG CGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCAC CCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCC CGTCCAGGCCCCGACGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCCACCCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3495		chr19	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGAAA others(597): Show TGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGGGGGGA AGGGGTGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGGAAG GGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGGAG GAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAGGTGGGA AGGGGGAGAGGAAGGGGGAAGGGGGAGGAGGAGGGGGGAAGGGGGGGAGG AGGAAGGGGGAAGGGGGAGGAGGAGGGGGAAGGGGGGAGGAGGAAGGGGG GATGGGGGAGGAGGAAGGGAGAAGGAGGAGGAGGAAGGGGGGGAAGGGGG AGGGGAGGAGAAGGGGAAGAGGAGGAGGAGGAAGGGGAAGAAGGAGGAGG AAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGA AGGGGGAAGGGGAGCGGGAGGAGGAGGGGAAGAGGAGGAGAGGAAGGGGG AAGGGGGAGGTGGGAGGAGGAAGGGAAGAAGGAGGAGGAGGAGAAGGGGG AAAGGGGGAGTGGGAGAGGAAGGGGAAGAAGGAGGGGGAAGTGGGGAAGG GGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0003 a0003c0008t0001g0003	1	300	0.0033	604	c.-70 others(613): Show c.-704_-703insGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAG AGGGGGGGGGGGAAGGGGTGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGG GGGAGGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGG GGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGA GGAGGAGGTGGGAAGGGGGAGAGGAAGGGGGAAGGGGGAGGAGGAGGGGG GAAGGGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAGGGGGAAGGGGGG AGGAGGAAGGGGGGATGGGGGAGGAGGAAGGGAGAAGGAGGAGGAGGAAG GGGGGGAAGGGGGAGGGGAGGAGAAGGGGAAGAGGAGGAGGAGGAAGGGG AAGAAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGA AGGAGGAGGAGGAAGGGGGAAGGGGAGCGGGAGGAGGAGGGGAAGAGGAG GAGAGGAAGGGGGAAGGGGGAGGTGGGAGGAGGAAGGGAAGAAGGAGGAG GAGGAGAAGGGGGAAAGGGGGAGTGGGAGAGGAAGGGGAAGAAGGAGGGG GAAGTGGGGAAGGGGAAG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar
BIRC7_chr20_63230905_63245495	63235400	A A	AAGTGAGG others(597): Show AAGTGAGGGGAGGGTGGGGGAAGGAGGGAAAGAGGGGGGGGAGGGGGAAG GGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGAAGGGG AGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGTGGAAGAGGAGGAGG AAGGGGGAAGGGGGGAGGAGGAAGGGGGGGAAGGGGGGAGGAGGAAGGGG GAAGGGGGAGGAGGAAGGGGGGGGAAGGGGGGAGGAGGAAGGGGGAAGGG GGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGA AGGGGAAGAAGGAGGAGGAGGAAGGGGGGGAAGGGGGAGCGGGGAGGAGG AAGGGGAAGACGGAGGAGGAGGAAGGGGAAGAAGGAGGAGGAAGGGGGGA AGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAG GGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGG GAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGA GTGGGAGGAGGAAGGGGAAGAAGGAGGGGGAAGTGGGGAAGGGGAAGGGG GGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0018 a0003c0008t0001g0018	1	300	0.0033	604	c.-69 others(613): Show c.-697_-696insAGTGAGGGGAGGGTGGGGGAAGGAGGGAAAGAGGGG GGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGG GAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGTG GAAGAGGAGGAGGAAGGGGGAAGGGGGGAGGAGGAAGGGGGGGAAGGGGG GAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGGGAAGGGGGGAGGAG GAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGA AGGGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGGGAAGGGGG AGCGGGGAGGAGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGAAGGAG GAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGG AGGAAGGGGGAAGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGG AAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAA GGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGGGGAAGTGGG GAAGGGGAAGGGGGGAAG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		504		chr20	TogoVar
C2CD4C_chr19_400445_414147	410971	C C	CCTGCTGG others(597): Show CCTGCTGGGCCTGAGGCGGGAGAAGGGTCCTGGGGGTCTGTCCACCGCCC CTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGG ATCCTTGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCT GTCCACCGTCTCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCT GCTGGGCACAGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGAT CCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGT CCACCGTCTCTGCTGGGCCTGGATCCTTGGGGTCTGTCCACCACCCCTGC TGGGCCCGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGATCC TGGGGGTCTGTCCACCGCCCCTACTGGGCACGGATCCTGGGGGTCTGTCC ACCGTCTCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTG GGCACAGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGATCCTG GGGGTCTGTCCACCGCCCCTGCTGGGCACAGATCCTGGGGGTCTGTCCAC CGTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0094 a0001c0001t0094	a0001c0001t0094g0077 a0001c0001t0094g0077	1	322	0.0031	604	c.-20 others(615): Show c.-2007_-2006insAGACGGTGGACAGACCCCCAGGATCTGTGCCCAG CAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGAGACGGTGGA CAGACCCCCAGGATCTGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGA TCCGGGCCCAGCAGAGACGGTGGACAGACCCCCAGGATCCGTGCCCAGTA GGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGAGACGGTGGACA GACCCCCAGGATCCGGGCCCAGCAGGGGTGGTGGACAGACCCCAAGGATC CAGGCCCAGCAGAGACGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGG GGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGAGACGGTGGACAGA CCCCCAGGATCTGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCG GGCCCAGCAGAGACGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGG CGGTGGACAGACCCCAAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACC CCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGACCCTTC TCCCGCCTCAGGCCCAGCAG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1825		chr19	TogoVar
CACNA1H_chr16_1148106_1226768	1186101	A A	ACGGCGTA others(597): Show ACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGG CGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGG CGTGCGTAGGGGCCGGAAGCGGGGTGTGTACGGGGCGGGTGAGTAGACGG TCGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAG ACGGTCGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGA GTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAG ACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGG TCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAG ACGGTCGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGA GTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAG ATGGCGTAGGGGCCAGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGG TCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAG ACGGT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02572.hp1 HG03540.hp2 others(1): Show HG02055.hp1 HG02572.hp1 HG03540.hp2 HG03579.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0030	a0001c0001 a0002c0058 a0003c0028 others(1): Show a0001c0001 a0002c0058 a0003c0028 a0030c0067	a0001c0001t0001 a0002c0058t0023 a0003c0028t0004 others(1): Show a0001c0001t0001 a0002c0058t0023 a0003c0028t0004 a0030c0067t0020	a0001c0001t0001g0322 a0002c0058t0023g0027 a0003c0028t0004g0325 others(1): Show a0001c0001t0001g0322 a0002c0058t0023g0027 a0003c0028t0004g0325 a0030c0067t0020g0323	4	338	0.0118	604	c.300 others(621): Show c.300-8865_300-8864insAGGGGCCGGAGGCGGGGTGTGTACGGGG CGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGG TGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAAGCGGGGTGTGTACGGGG CGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTAC GGGGCAGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGGAGGCGGGGTGT GTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGG CGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCAGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGGAGGCGGGGTGT GTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGATGGCGTAGGGGCCAGAGGCGGGGTGTGTACGGGG CGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTAT GGGGCGGGTGAGTAGACGGTCGGCGT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNG7_chr19_53904278_53948950	53922857	T T	TCTGGTAT others(597): Show TCTGGTATTGGTGGAGTTGTCCCCAGGCCTGGTTATTGGTGGAGTTGCCC CAGGTCTGGTATTGGTGGAGTTGTCCGAGGTCTGGTATTGGTGGAGTTGC CCCAGGCTGGTCATTGGTGGAGTTGCCCAGGCTGGTCATTGGTGGACTTG CCCCAGGCTGGTCATTGGTGGAGTTGTCCGAGGTCTGGTATTGGTGGAGT TGCCCCAGGTCTGGTATTGGTGGAGTTGCCCCAGTTCTGGTATTGGTGGA GTTGCCCCAGGTCTGGTCATTGGTGGACTTGCCTAGGGCTGGTCATTGGT GGACTTGCCTAGGGCTGGTCATTGGTGGACTTGCCCCAGGTCTGGTCATT GGTGGACTTGCCCCAGGTCTGGTCATTGGTGGAGTTGCCCCAGGCTGGTC ATTGGTGTACTTGCCCCAGGTCTGGTCATTGGTGGAGCTGCCCCAGGTCT GGTCATTGGTGGAGTTGTCCCAGGCTGGTGATTGGTGGTGTTGTCCGAGG TCTGGTATTGGTGGAGTTGCCCCAGGTCTGGTATTGGTGGAGTTGCCCCA GGTCTGGTATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGACTTGCC TAGGG	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0233 a0001c0001t0010g0233	1	364	0.0028	604	c.424 others(621): Show c.424+7357_424+7358insATTGGTGGAGTTGTCCCCAGGCCTGGTT ATTGGTGGAGTTGCCCCAGGTCTGGTATTGGTGGAGTTGTCCGAGGTCTG GTATTGGTGGAGTTGCCCCAGGCTGGTCATTGGTGGAGTTGCCCAGGCTG GTCATTGGTGGACTTGCCCCAGGCTGGTCATTGGTGGAGTTGTCCGAGGT CTGGTATTGGTGGAGTTGCCCCAGGTCTGGTATTGGTGGAGTTGCCCCAG TTCTGGTATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGACTTGCCT AGGGCTGGTCATTGGTGGACTTGCCTAGGGCTGGTCATTGGTGGACTTGC CCCAGGTCTGGTCATTGGTGGACTTGCCCCAGGTCTGGTCATTGGTGGAG TTGCCCCAGGCTGGTCATTGGTGTACTTGCCCCAGGTCTGGTCATTGGTG GAGCTGCCCCAGGTCTGGTCATTGGTGGAGTTGTCCCAGGCTGGTGATTG GTGGTGTTGTCCGAGGTCTGGTATTGGTGGAGTTGCCCCAGGTCTGGTAT TGGTGGAGTTGCCCCAGGTCTGGTATTGGTGGAGTTGCCCCAGGTCTGGT CATTGGTGGACTTGCCTAGGGCTGGT	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar

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