Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(508): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCTCCTCCCCCTCCTCTTCCT CCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCC TCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTC CTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0099 a0001c0001t0099	a0001c0001t0099g0071 a0001c0001t0099g0071	1	270	0.0037	515	c.162 others(536): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCCTCTTCC TCCTCCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTC CTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCT CCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(508): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCTCCTCCCCCTCCTCTTCCT CCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCC TCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTC CTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01496.hp1 HG00733.hp2 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0017 a0001c0001t0002 a0001c0001t0017	a0001c0001t0002g0066 a0001c0001t0017g0072 a0001c0001t0002g0066 a0001c0001t0017g0072	2	270	0.0074	515	c.162 others(536): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCCTCTTCC TCCTCCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTC CTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCT CCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(508): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCTCCTCCCCCTCCTCTTCCT CCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCC TCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTC CTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01934.hp2 HG00558.hp1 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0097 a0001c0001t0020 a0001c0001t0097	a0001c0001t0020g0026 a0001c0001t0097g0014 a0001c0001t0020g0026 a0001c0001t0097g0014	2	270	0.0074	515	c.162 others(536): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCCTCTTCC TCCTCCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTC CTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCT CCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(508): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCTCCTCCCCCTCCTCTTCCT CCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCC TCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTC CTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	270	0.0037	515	c.162 others(536): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCCTCTTCC TCCTCCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTC CTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCT CCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNOT3_chr19_54132762_54160681	54133740	C C	CTCCCTCC others(508): Show CTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTC CCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCC CTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCA CCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTC CCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTC TCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCC CCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCT CCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCAC CTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCC CTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCC ACCTCCCCTCCCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	223	0.0045	515	c.-43 others(526): Show c.-4304_-4303insTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTC CTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGT CTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCT CCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCC CTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCA CCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTC CCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTC TCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTC CCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCC TCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCC ACCTTCCCTGTCTCCACCTCCCCTCCCTCTG	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		4021		chr19	TogoVar
COL4A1_chr13_110143963_110312157	110255703	G G	GGGGCAGG others(508): Show GGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAA GAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGG AAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAA GGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAA GGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGG AGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGC AGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGG GGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGA AGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGA AGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGG AGGGGGAAGGCAGGAA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0002 a0002	a0002c0026 a0002c0026	a0002c0026t0004 a0002c0026t0004	a0002c0026t0004g0342 a0002c0026t0004g0342	1	344	0.0029	515	c.85- others(532): Show c.85-12970_85-12969insTTCCTGCCTTCCCCCTCCCTTCCTGCCT TTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTT CCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCC CCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCT GCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTT CCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCT TCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCT TCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTC CCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTTCCCCTCCCTTCC TGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCTTGCCTTCCCCC TCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255707	A A	AAGGCAGG others(508): Show AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAG GGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAG GCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGA GGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCA GGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGG GGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGA AGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGA AGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGG AAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGC AGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGG GGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0331 a0002c0002t0002g0331	1	344	0.0029	515	c.85- others(532): Show c.85-12974_85-12973insCCCTTCCTGCCTTCCCCCTTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTC CCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCT TCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCT TCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCC CCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCC TGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCT TCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCC TTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTTCC CTTCCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTC CCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255707	A A	AAGGCAGG others(508): Show AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGG GAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGG CAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAG GGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAG GAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGG AAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAA GGGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAA GGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGA AGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGC AGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGG GGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18962.hp1 NA18944.hp2 NA18962.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0014 a0002c0011t0002 a0002c0011t0014	a0002c0011t0002g0277 a0002c0011t0014g0335 a0002c0011t0002g0277 a0002c0011t0014g0335	2	344	0.0058	515	c.85- others(532): Show c.85-12974_85-12973insCCCTTCCTGCCTTCCCCCTTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTT CCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCC TTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCC TTCCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCC CCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCC TGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCC TTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGC CTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCC CTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTT TCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110497546	C C	CAGTCCAC others(508): Show CAGTCCACCAGCACAACCTCCACTCAGGGCTGAGGATCTAGGTCAATCCA CCAGCACAGCCTCACTCAGGGGTGAGGATCTAGGTCAGTACACCAGCACA GCTTCAGCCAGGATTGAGGGTCTAGGGTCAGTCCACCAGCACAACCTCCA CTCAGGACTGAGGATTTAGGTCAATCCACCAGCACAACCTCCACTCAGGA CTGAGGATCTAGGTCAGTCCACCAGCACAACCTCCACTCAGGACTGAGGA TTTAGGTCAATCCACCAGCACAACCTCCACTCAGGACTGAGGATTTAGGT CAGTCCACCAGCACAACCTCCACTCAGGGCTGAGGATTTAGGTCAATCCA CCAGCACAACCTCCACTCAGGACTGAGGATCTAGGTCAGTCCACCAGCAC AACCTCCACTCAGGACTGAGGATTTAGGTCAATCCACCAGCACAACCTCC ACTCAGGACTGAGGATCTAGGTCAGTCCACCAGCACAACCTCCACTCAGG ACTGAGGATTTAGGTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02965.hp1 HG03139.hp1 others(1): Show HG02723.hp1 HG02965.hp1 HG03139.hp1 HG03486.hp1	a0002 a0002	a0002c0063 a0002c0097 a0002c0111 others(1): Show a0002c0063 a0002c0097 a0002c0111 a0002c0120	a0002c0063t0007 a0002c0097t0015 a0002c0111t0015 others(1): Show a0002c0063t0007 a0002c0097t0015 a0002c0111t0015 a0002c0120t0007	a0002c0063t0007g0147 a0002c0097t0015g0260 a0002c0111t0015g0368 others(1): Show a0002c0063t0007g0147 a0002c0097t0015g0260 a0002c0111t0015g0368 a0002c0120t0007g0029	4	372	0.0108	515	c.376 others(534): Show c.3760+2115_3760+2116insCTAGGTCAATCCACCAGCACAGCCTC ACTCAGGGGTGAGGATCTAGGTCAGTACACCAGCACAGCTTCAGCCAGGA TTGAGGGTCTAGGGTCAGTCCACCAGCACAACCTCCACTCAGGACTGAGG ATTTAGGTCAATCCACCAGCACAACCTCCACTCAGGACTGAGGATCTAGG TCAGTCCACCAGCACAACCTCCACTCAGGACTGAGGATTTAGGTCAATCC ACCAGCACAACCTCCACTCAGGACTGAGGATTTAGGTCAGTCCACCAGCA CAACCTCCACTCAGGGCTGAGGATTTAGGTCAATCCACCAGCACAACCTC CACTCAGGACTGAGGATCTAGGTCAGTCCACCAGCACAACCTCCACTCAG GACTGAGGATTTAGGTCAATCCACCAGCACAACCTCCACTCAGGACTGAG GATCTAGGTCAGTCCACCAGCACAACCTCCACTCAGGACTGAGGATTTAG GTTAGTCCACCAGCACAACCTCCACTCAGGGCTGAGGAT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	40/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
CRTC3_chr15_90524923_90650345	90647663	T T	TTCTCCTC others(508): Show TTCTCCTCCTCCACACCTGTCCTCCTCCACACTCATCCTCCTCACCGTTC CTCCACCACATCCCTCCTCCTCCACACCCCTCCTCACCCCTTGTCCTCCT CCAAACGCTTCTTCCTCCTGTTTCTTCCTCCACACCCCTCCTGCTCCACA TCCCTCCCCCTCCATCCCCTCCACACCCCTCCCCCTCCTCACCCCGTCTC CTCCTCCACACCCCTCCTCCTCCATACCCCTCCTCCACCTCACACCTCCC CCTCACCCCTTCTCCTCCACCACACCCCTCCTCCTCCACACCCCTCCTCC GCCTCACACCTCCCTCACCCCTCCTCCTCCACACCTTGTCCTCCTCCACA CCCCTCCTCTGCCTCACCCCTCCTCCTCCTCCACACCCCTTGTCCTCCTC CACACCCCTCCTCCGCCTCACCCCCCTCCTCACCCCTTCTCCTCTCCACA TCCCTCCTCCTCAACCCTCCTGCTCCACATCCCTCCCCCTTCACACCCCT CCTCATCCTCCACACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0029 a0001c0015t0029	a0001c0015t0029g0042 a0001c0015t0029g0042	1	276	0.0036	515	c.55 others(526): Show c.5523_*5524insTCTCCTCCTCCACACCTGTCCTCCTCCACACTCA TCCTCCTCACCGTTCCTCCACCACATCCCTCCTCCTCCACACCCCTCCTC ACCCCTTGTCCTCCTCCAAACGCTTCTTCCTCCTGTTTCTTCCTCCACAC CCCTCCTGCTCCACATCCCTCCCCCTCCATCCCCTCCACACCCCTCCCCC TCCTCACCCCGTCTCCTCCTCCACACCCCTCCTCCTCCATACCCCTCCTC CACCTCACACCTCCCCCTCACCCCTTCTCCTCCACCACACCCCTCCTCCT CCACACCCCTCCTCCGCCTCACACCTCCCTCACCCCTCCTCCTCCACACC TTGTCCTCCTCCACACCCCTCCTCTGCCTCACCCCTCCTCCTCCTCCACA CCCCTTGTCCTCCTCCACACCCCTCCTCCGCCTCACCCCCCTCCTCACCC CTTCTCCTCTCCACATCCCTCCTCCTCAACCCTCCTGCTCCACATCCCTC CCCCTTCACACCCCTCCTCATCCTCCACACC	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		2319		chr15	TogoVar
DCLK2_chr4_150073445_150262438	150251109	A A	ACCCCCCA others(508): Show ACCCCCCACACATCCCACACCACACATCCCCACACCCCCCACATCCCCCA CACCCCCCACATCCCCCACACCCCCCACATCCCCCACACCCCCCACCATC CCCCACACCCCCCACATCCCCCACACCCCCCACATCCCCCACACCCCCCA CATCCCCCACACCCCCCACATCCCCCACACCCCCCACATCCCCCACACCC CCACATCCCCCCACCCCCACCCCCCACATCCCCCACACCCCCCACATCCC CCACACCCCCCCACATCCCCCACACCCCCCACATCCCCCACACCCCCCAC ATCCCCCACATCCCCCCACATCCCCCACACCCCCCCCACACCCCCCACAC CCCCCACACCCCCACATCCCCCACACCCCCCACACACCCCACACCCCCCA CATCCCCCACACATCCCCCACATCCCCCACACCCCCCACACATCCCCCAC ACCCCCCACATCCCCCACACCCCCCACACATCCCCCACACCCCCCCCCCC ACACCCCCCACACCCC	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	116	0.0086	515	c.207 others(534): Show c.2073+1427_2073+1428insCCCCACACATCCCACACCACACATCC CCACACCCCCCACATCCCCCACACCCCCCACATCCCCCACACCCCCCACA TCCCCCACACCCCCCACCATCCCCCACACCCCCCACATCCCCCACACCCC CCACATCCCCCACACCCCCCACATCCCCCACACCCCCCACATCCCCCACA CCCCCCACATCCCCCACACCCCCACATCCCCCCACCCCCACCCCCCACAT CCCCCACACCCCCCACATCCCCCACACCCCCCCACATCCCCCACACCCCC CACATCCCCCACACCCCCCACATCCCCCACATCCCCCCACATCCCCCACA CCCCCCCCACACCCCCCACACCCCCCACACCCCCACATCCCCCACACCCC CCACACACCCCACACCCCCCACATCCCCCACACATCCCCCACATCCCCCA CACCCCCCACACATCCCCCACACCCCCCACATCCCCCACACCCCCCACAC ATCCCCCACACCCCCCCCCCCACACCCCCCACACCCCCC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DPEP1_chr16_89608642_89643433	89619306	C C	CCCCCCCT others(508): Show CCCCCCCTGCTCCCCTCCCTGCAGCCCCCCTGCCCCCCCTGCTCCCCTCC CTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGC TCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCC CTGCCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCT CCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCC CGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCC CTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCCTGCCCCCCCCGCTCCCC TCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCC CCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGC TCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCC TCCCTGCAGCTCCATG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0174 a0002c0002t0001g0174	1	250	0.0040	515	c.-10 others(534): Show c.-107+5593_-107+5594insTGCTCCCCTCCCTGCAGCCCCCCTGC CCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGC AGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTC CCCTCCCTGCAGCCCCCCTGCCCCCCCCGCTCCCCTCCCTGCAGCCCCCT GCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCC TGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCT CCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCC TGCCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTC CCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCC GCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCC TGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
EIF3B_chr7_2349827_2385745	2377913	C C	CATGGAGG others(508): Show CATGGAGGAAGGAGCAGGCACGAGCGCTCCTGGGATGCTGTGTTCTGTGA ATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCTCTTCTGGGAA TCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCG AGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGG AAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCT GGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTT CTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCC TGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCA GGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCA TGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAAT GACCCTGGGTGTCATG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0072 a0001c0001t0003g0072	1	384	0.0026	515	c.215 others(532): Show c.2155-776_2155-775insATGGAGGAAGGAGCAGGCACGAGCGCTC CTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGC AGGCGCGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTC ATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAA TGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATG CTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGA GCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGA AGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTG GGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTC TGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCT GGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATG	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18			chr7	TogoVar
EIF3B_chr7_2349827_2385745	2378230	C C	CATGGAGG others(508): Show CATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGA ATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAT GCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCG AGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGG AAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCT GGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTT CTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCC TGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCA GGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCA TGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAAT GACCCTGGGTGTCATG	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0093 a0001c0001t0004g0093	1	384	0.0026	515	c.215 others(532): Show c.2155-459_2155-458insATGGAGGAAGGAGCAGGCGCGAGCTCTC CTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGC AGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTC ATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAA TGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATG CTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGA GCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGA AGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTG GGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTC TGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCT GGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATG	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18			chr7	TogoVar
EIPR1_chr2_3183970_3382818	3316029	C C	CACCATCC others(508): Show CACCATCCTCACCACCATCCCCATCCACACCCCCTACCACCACCATCACC ACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCC ACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCA CCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCAC CATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCAC ACCCCCTACCACCACCATCACCACCATCCCCATACACACCCCCTACCACC ACCATCACCACCATCCCCATACACACCCCCTACCACCACCATCACCACCA TCCCCATACACACCCCCTACCACCATCCTCACCACCATCCCCATCCACAC CCCCTACCACCACCATCACCACCATCCCCATACACACCCCCTACCACCAC CATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATC CCCATACACACCCCCT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	250	0.0040	515	c.259 others(534): Show c.259+21987_259+21988insAGGGGGTGTGTATGGGGATGGTGGTG ATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAG GGGGTGTGTATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGG GGATGGTGGTGAGGATGGTGGTAGGGGGTGTGTATGGGGATGGTGGTGAT GGTGGTGGTAGGGGGTGTGTATGGGGATGGTGGTGATGGTGGTGGTAGGG GGTGTGTATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGG ATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGG TGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGG TGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGAT GGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTG GTGGTAGGGGGTGTGGATGGGGATGGTGGTGAGGATGGT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
FBN2_chr5_128252909_128543245	128539836	T T	TATGATAT others(508): Show TATGATATATATGATAGATCATATATTATATCATATATATCATATATATG AGATCATATATGATCTATCATATATATCATATCATATATATCATATCATT ATCACATATCACATATATCATATATCACATATATCACATATATCATATAT CACATATATCACATATATCATATATCACATATATCACATATATCATATAT CACATATATCACATATATCATATATATCATATATCACATATATCATATAT ATCATATATTATATATATCATATATCATATATATCATATATATCATATAT ATCATATATATCATATATATCATATATATCATATATCATATATATCATAT ATATCATATATCATATATATCATATATATCATATATCATATATATCATAT ATATCATATATCATATATATCATATATCATATATATTATATATCATATAT ATCATATATATTATATATCATATATCATATATATCATATATATTATATAT CATATATCATATATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0041 a0002c0041	a0002c0041t0011 a0002c0041t0011	a0002c0041t0011g0029 a0002c0041t0011g0029	1	236	0.0042	515	c.-22 others(526): Show c.-2234_-2233insTGATATATGATATATGATATATAATATATATGAT ATATATGATATATGATATATAATATATATGATATATATGATATATAATAT ATATGATATATGATATATATGATATATGATATATATGATATATATGATAT ATGATATATATGATATATATGATATATGATATATATGATATATATGATAT ATGATATATATGATATATATGATATATATGATATATATGATATATATGAT ATATATGATATATGATATATATAATATATGATATATATGATATATGTGAT ATATGATATATATGATATATGTGATATATGTGATATATGATATATGTGAT ATATGTGATATATGATATATGTGATATATGTGATATATGATATATGTGAT ATATGTGATATATGATATATGTGATATGTGATAATGATATGATATATATG ATATGATATATATGATAGATCATATATGATCTCATATATATGATATATAT GATATAATATATGATCTATCATATATATCAT	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1592		chr5	TogoVar
GMEB2_chr20_63582605_63632101	63608561	C C	CCACCTCC others(508): Show CCACCTCCATTTCTAGAAACATGCCCCTCTGACCCACACCTCCATTTCTA GAAACATGCCCCTCTGACCCCACATCCATTTCTAGAAACATGCCCCTCTG ACCTCACCTCCATTTCTAGAAACATGCCCCTGTGACCCACACCTCCATTT CTAGAAACATGCCCCTCTGACCCCACCTCCATTTCTAGAAACATGTCCCT CTGACCCCACATCCATTTCTAGAAACATGCCCCTCTGACCCCACCTCCAT TTCTAGAAACATGCCCCTCTGACCCACACCTCCATTTCTAGAAACATGCC CCTCTGACCCCACATCCATTTCTAGAAACATGCCCCTCTGACCTCACCTC CATTTCTAGAAACATGCCCCTGTGACCCACACCTCCATTTCTAGAAACAT GCCCCTCTGACCTCACCTCCATTTCTAGAAACATGCCCCTGTGACCCCAC ATCCATTTCTAGAAACATGTCCCTCTGACCCCACATCCATTTCTAGAAAC ATGCCCCTCTGACCCA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	330	0.0030	515	c.132 others(532): Show c.132-3722_132-3721insTGGGTCAGAGGGGCATGTTTCTAGAAAT GGATGTGGGGTCAGAGGGACATGTTTCTAGAAATGGATGTGGGGTCACAG GGGCATGTTTCTAGAAATGGAGGTGAGGTCAGAGGGGCATGTTTCTAGAA ATGGAGGTGTGGGTCACAGGGGCATGTTTCTAGAAATGGAGGTGAGGTCA GAGGGGCATGTTTCTAGAAATGGATGTGGGGTCAGAGGGGCATGTTTCTA GAAATGGAGGTGTGGGTCAGAGGGGCATGTTTCTAGAAATGGAGGTGGGG TCAGAGGGGCATGTTTCTAGAAATGGATGTGGGGTCAGAGGGACATGTTT CTAGAAATGGAGGTGGGGTCAGAGGGGCATGTTTCTAGAAATGGAGGTGT GGGTCACAGGGGCATGTTTCTAGAAATGGAGGTGAGGTCAGAGGGGCATG TTTCTAGAAATGGATGTGGGGTCAGAGGGGCATGTTTCTAGAAATGGAGG TGTGGGTCAGAGGGGCATGTTTCTAGAAATGGAGGTG	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GNA15_chr19_3131033_3168749	3145577	T T	TCTCACTC others(508): Show TCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACT GCAACCTCTGCCTCCCAGGTTGAAGCAATTTTCCTGCCTCAGCCTCCCGA GTAGCTGGGATTACTGGCGCCCACGACCACGCCCAGCTAATTTTTGTATT TTTAGTAGTAATTTTTGTATTTCACCATATTGGTCAGGCTGGTCTCGAAC TCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATT ACAGGCATGAGCCACTGTGCCTGGCCCCTGATACCTTTTCCTCCCTAAAT ACTCAGCGAGTTTGAGTTGCACTGAGAAGGAAAAACACTGCGGGACCTTG ATCAAAAGCATGACACAGTGCCCTCCGCTAACACACAGTCCTGATTTGCA ATTTGCCAGTTTTCCCAATTTCCGTGTGAATGTCCTTTACAGCAAGAGAA AAGCCTTTTTCTTTATTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGGAGACGGAGC	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA20300.hp2 HG03130.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0256 a0001c0003t0001g0217 a0001c0001t0001g0256 a0001c0003t0001g0217	2	450	0.0044	515	c.146 others(532): Show c.146-2988_146-2987insCAGTGGTGTGATCTCGGCTCACTGCAAC CTCTGCCTCCCAGGTTGAAGCAATTTTCCTGCCTCAGCCTCCCGAGTAGC TGGGATTACTGGCGCCCACGACCACGCCCAGCTAATTTTTGTATTTTTAG TAGTAATTTTTGTATTTCACCATATTGGTCAGGCTGGTCTCGAACTCCTG ACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG CATGAGCCACTGTGCCTGGCCCCTGATACCTTTTCCTCCCTAAATACTCA GCGAGTTTGAGTTGCACTGAGAAGGAAAAACACTGCGGGACCTTGATCAA AAGCATGACACAGTGCCCTCCGCTAACACACAGTCCTGATTTGCAATTTG CCAGTTTTCCCAATTTCCGTGTGAATGTCCTTTACAGCAAGAGAAAAGCC TTTTTCTTTATTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GGAGACGGAGCCTCACTCTGTCACCCAGGCTGGAGTG	GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
GPATCH2_chr1_217421992_217636090	217524869	G G	GGGAGAGG others(508): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0148	1	188	0.0053	515	c.109 others(534): Show c.1099-9981_1099-9980insTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC	GPATCH2	ENSG00000092978.11	transcript	ENST00000366935.8	protein_coding	5/9			chr1	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(508): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGTC CTCCTCCCCCACCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCCA CCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTCC CCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCACC TCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCCCC TCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCTCCT CCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCCCC CTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCC TCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCC ACCTCCCCCCCTCCCCCCCCCTCCCCCCCCTCCCTGTCTTCCTCCCCCAC CTCCCCCCTCCTCCCA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	252	0.0040	515	c.10- others(532): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCTCCCCCCTCCTCCCCCTCCC CCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCA CCTCCTCCTCCTCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCT CCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTC CTCCTCTCCCCCCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCT GCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTC CCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCC TCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCC TGTCTTCCTCCCCCACCTCCCCCCCTCCCCCCCCCTCCCCCCCCTCCCTG TCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
LAMC1_chr1_183018420_183150592	183149942	C C	CCTCTCCT others(508): Show CCTCTCCTCCTCACACCACAGAGCCCACACCCCTCTCCTCACACACCACA CAGCTCACATCCCTCTCCTCACACACCACACAGCTCACACCCCTCTCCTC ACACACCACACAGCTCACATCCCTCTCCTCACACACCACACAGCCCACAC CCCTCTCCTCCTCACACCACAGAGCCCACACCCCTCTCCTCACACACCAC ACAGCTCACACCCCTCTCCTCACACACCACACAGCTCACATCCCTCTCCT CACACACCACACAGCTCACACCCCTGTCCTCCTCACACACCACACAGCCC ACACCCCTCTCCTCCTCACACCACAGAGCCCACACCCCTCTCCTCACACA CCACACAGCTCACACCCCTCTCCTCACACACCACACAGCTCACATCCCTC TCCTCACACACCACACAGCTCACACCCCTGTCCTCCTCACACACCACACA GCCCACACCCCTCCTCACACACCACACAGCTCACACCCCTCTCCTGCTCA CACACCACACAGCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0259 a0001c0003t0003g0259	1	308	0.0033	515	c.71 others(526): Show c.7152_*7153insCTCTCCTCCTCACACCACAGAGCCCACACCCCTC TCCTCACACACCACACAGCTCACATCCCTCTCCTCACACACCACACAGCT CACACCCCTCTCCTCACACACCACACAGCTCACATCCCTCTCCTCACACA CCACACAGCCCACACCCCTCTCCTCCTCACACCACAGAGCCCACACCCCT CTCCTCACACACCACACAGCTCACACCCCTCTCCTCACACACCACACAGC TCACATCCCTCTCCTCACACACCACACAGCTCACACCCCTGTCCTCCTCA CACACCACACAGCCCACACCCCTCTCCTCCTCACACCACAGAGCCCACAC CCCTCTCCTCACACACCACACAGCTCACACCCCTCTCCTCACACACCACA CAGCTCACATCCCTCTCCTCACACACCACACAGCTCACACCCCTGTCCTC CTCACACACCACACAGCCCACACCCCTCCTCACACACCACACAGCTCACA CCCCTCTCCTGCTCACACACCACACAGCCCA	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		4351		chr1	TogoVar
LHPP_chr10_124456823_124619141	124507796	G G	GTGGAGGG others(508): Show GTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTC GGGGGGGTAGACAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTG GGGGGATAGGGAGGATTTCAGGTGTGGGGGGTAGACAGGATTTCAGGTGG GGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGGG GGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAG GGTAGACAGGATTTCAGGTGGGGGGATAGGGAGGATTTCAGGTGTGGAGG GTAGACAGGATTTCAGGTGGGGGGGGTAGGGAGGATTTCAGGTCGGGGGG GTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGG TAGACAGGATTTCAGGTGGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGG TAGACAGGATTTCAGGTGGGGGGATAGGGAGGATTTCAGGTGTGGAGGGT AGACAGGATTTCAGGT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0208 a0002c0002t0001g0208	1	260	0.0039	515	c.625 others(532): Show c.625-9384_625-9383insTGGAGGGTAGACAGGATTTCAGGTGGGG GGGTAGGGAGGATTTCAGGTCGGGGGGGTAGACAGGATTTCAGGTGTGGA GGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGGATTTCAGGTGTGGGG GGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGGGG TAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTA GGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAG GGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGGTAG GGAGGATTTCAGGTCGGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGG GAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGGTAGG GAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGG AGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6			chr10	TogoVar
LHPP_chr10_124456823_124619141	124507857	G G	GAGGATTT others(508): Show GAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGGGGGTAGGG AGGATTTCAGGTGTGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGA GGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAG GATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGG ATTTCAGGTCGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGACAGGA TTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGGGGGTAGGGAGGAT TTCAGGTGTGGGGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAAGATT TCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGCAGGATTT CAGGTCGGGGGGGTAGACAGGATTTCAGTTGGGGGGGTAGACAGGATTTC AGTTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCA GGTGTGGAGGGTAGAC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	260	0.0039	515	c.625 others(532): Show c.625-9305_625-9304insATAGGGAGTATTTCAGGTGGGGGGGGTA GGGAGGATTTCAGGTGTGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAG GGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGG GAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGG AGGATTTCAGGTCGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGACA GGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGGGGGTAGGGAG GATTTCAGGTGTGGGGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAAG ATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGCAGGA TTTCAGGTCGGGGGGGTAGACAGGATTTCAGTTGGGGGGGTAGACAGGAT TTCAGTTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATT TCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LIPM_chr10_88797730_88825546	88808910	C C	CATTTTAT others(508): Show CATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0114 a0001c0002t0001g0114	1	462	0.0022	515	c.265 others(530): Show c.265+555_265+556insATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTT	LIPM	ENSG00000173239.14	transcript	ENST00000404743.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF1_chr16_848634_975984	857646	A A	ACGGGACG others(508): Show ACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGG GACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGAC GGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGT GTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGA GTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCAGTG GTGTCACGGGATGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGT GTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGT CTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCT CGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGG GACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACG GGTGTGAGTGGTGTCT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0202 a0001c0003t0001g0202	1	294	0.0034	515	c.153 others(534): Show c.1530-2941_1530-2940insAGACACCACTCACACCCGTCCCGAGA CACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACC ACTCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACT GCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGC ACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTGCAC ACCCGTCCCGAGACACCACTGCACACCCATCCCGTGACACCACTGCACAC CCATCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACACCCGT CCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCG TGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGAC ACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACC ACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	857646	A A	ACGGGACG others(508): Show ACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGG GACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGAC GGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGT GTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGATGGGTGTGA GTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCAGTG GTGTCACGGGATGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGT GTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGT CTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCT CGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGG GACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACG GGTGTGAGTGGTGTCT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	294	0.0034	515	c.153 others(534): Show c.1530-2941_1530-2940insAGACACCACTCACACCCGTCCCGAGA CACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACC ACTCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACT GCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGC ACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTGCAC ACCCGTCCCGAGACACCACTGCACACCCATCCCGTGACACCACTGCACAC CCATCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACACCCAT CCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCG TGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGAC ACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACC ACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	857706	C C	AGTGGTGT others(508): Show AGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTG TCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTC GGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGA TGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACG GGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGG TGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTG TGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTG AGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTG GTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCGTGGTGT CACGGGACGGGTGTGC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	294	0.0034	515	c.153 others(534): Show c.1530-3000_1530-2999insCACACCCGTCCCGTGACACCACGCAC ACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCC GTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCC CGTGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCG AGACACCACTGCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGTG ACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGAC ACCACTGCACACCCGTCCCGTGACACCACTGCACACCCATCCCGAGACAC CACTCACACCCATCCCGAGACACCACTCACACCCATCCCGAGACACCACT CACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACCACTCACA CCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTCACACCCG TCCCGAGACACCACTGCACACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	857729	C C	CAGTGGTG others(508): Show CAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGT GGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTG TCACGGGACGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTC GGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCACGGG ATGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGAC GGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGG GTGTGAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTG TGCAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGA GTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGG TGTCACGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGCGTGGTGTC ACGGGACGGGTGTGCA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0027 a0001c0002t0001g0027	1	294	0.0034	515	c.153 others(534): Show c.1530-3024_1530-3023insTGCACACCCGTCCCGTGACACCACGC ACACCCGTCCCGAGACACCACGCACACCCGTCCCGTGACACCACTCACAC CCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGT CCCGTGACACCACTCACACCCGTCCCGTGACACCACTGCACACCCGTCCC GAGACACCACTGCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAG ACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGAC ACCACTGCACACCCGTCCCGAGACACCACTGCACACCCATCCCGTGACAC CACTGCACACCCATCCCGAGACACCACTCACACCCATCCCGAGACACCAC TCACACCCATCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCAC ACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACCACTCACACCC GTCCCGAGACACCACTCACACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
MCF2L2_chr3_183173041_183433619	183314939	T T	TGAGACAG others(508): Show TGAGACAGAATTTCACTCTTGTTGCCCAGGCTGGAGTACAATGGTACGAT CTCAGCTCATTGCAACCTCCGCCTCCCAGGTTCAAGAGATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGGGTA ATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCGTGTTGGTCAGGCTGGT CTCAAACTCCCGACTTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGC TGGTATTACAGGTGTGAGCCACTGCACCTGGCCAGTATCTCTTTTTTTCT AATATAAACCATTTCTCTCTTTAAGCCATTTTTGGATGAGAAAGAGGAAA TATATAACTCTAGTTTAATGATTTTGGTATTCTTGCTTCTAAGCTACAAG ATAACAAACAAAGAAATCAGATTTGAATTAGGACAATAATCAGTAATCAC AAAAAGGCCTTAAGAAATTCTCTGTATTTTTTTGGTTTGTTTTTTGTTTG TTTGTTTGTTTGTTTG	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0071 a0002c0002t0001g0071	1	176	0.0057	515	c.753 others(532): Show c.753+3128_753+3129insCAAACAAACAAACAAACAAACAAAAAAC AAACCAAAAAAATACAGAGAATTTCTTAAGGCCTTTTTGTGATTACTGAT TATTGTCCTAATTCAAATCTGATTTCTTTGTTTGTTATCTTGTAGCTTAG AAGCAAGAATACCAAAATCATTAAACTAGAGTTATATATTTCCTCTTTCT CATCCAAAAATGGCTTAAAGAGAGAAATGGTTTATATTAGAAAAAAAGAG ATACTGGCCAGGTGCAGTGGCTCACACCTGTAATACCAGCACTTTGGGAG GCCAAGGCGGGTGGATCACCTGAAGTCGGGAGTTTGAGACCAGCCTGACC AACACGGAGAAACCCCATCTCTACTAAAAATACAAAATTACCCGGACATG GTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAAT CTCTTGAACCTGGGAGGCGGAGGTTGCAATGAGCTGAGATCGTACCATTG TACTCCAGCCTGGGCAACAAGAGTGAAATTCTGTCTC	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	7/29			chr3	TogoVar
MELTF_chr3_196996740_197034817	197000641	A A	ATGTGCCA others(508): Show ATGTGCCAAGCACTGTGCTGAGTGTTTTGTGTCTTAGACTCTATGCCATG TGCCAAGCACTGTGCTGAGTGTTTTGTGTCTTAGACTCTATGCCATGTGC CAAGCACTGTGCTGAGTGTTTTGTGTCTTAGACTCTATGCCGTGTGCCAA GCACTGTGCTGAGTGTTTTGTGTCTTAGACTCTATGCCGTGTGCCAAGCA CTGTGCTGAGTGTTTTGTGTCTTAGACTCTATGCCGTGTGCCAAGCACTG TGCTGAGTGTTTTGTGTCTTAGACTCTATGCCGTGTGCCAAGCACTGTGC AGTGTTTTGTGTCTTAGTCTCTATGCCGTGTGCCAAGCACTGTGCTGAGT GTTTTGTGTCTTAGACTCTATGCCGTGTGCCAAGCACTGTGCTGAGTGTT TTGTGTCTTAGACTCTATGCCGTGTGCCAAGCACTGTGCTGAGTGTTTTG TGTCTTAGACTCTATGCCGTGTGCCAAGCACTGTGCTGAGTGTTTTGTGT CTTAGACTCTATGCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0023 a0001c0003t0003g0023	1	420	0.0024	515	c.27 others(526): Show c.2730_*2731insCGGCATAGAGTCTAAGACACAAAACACTCAGCAC AGTGCTTGGCACACGGCATAGAGTCTAAGACACAAAACACTCAGCACAGT GCTTGGCACACGGCATAGAGTCTAAGACACAAAACACTCAGCACAGTGCT TGGCACACGGCATAGAGTCTAAGACACAAAACACTCAGCACAGTGCTTGG CACACGGCATAGAGACTAAGACACAAAACACTGCACAGTGCTTGGCACAC GGCATAGAGTCTAAGACACAAAACACTCAGCACAGTGCTTGGCACACGGC ATAGAGTCTAAGACACAAAACACTCAGCACAGTGCTTGGCACACGGCATA GAGTCTAAGACACAAAACACTCAGCACAGTGCTTGGCACACGGCATAGAG TCTAAGACACAAAACACTCAGCACAGTGCTTGGCACATGGCATAGAGTCT AAGACACAAAACACTCAGCACAGTGCTTGGCACATGGCATAGAGTCTAAG ACACAAAACACTCAGCACAGTGCTTGGCACA	MELTF	ENSG00000163975.14	transcript	ENST00000296350.10	protein_coding		1098		chr3	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGATGGT others(508): Show GTGATGGTGGTGGTGGTGGTGGTGGCGGCGATGGTGGTGGTGGTGATGGT GGCGGCGGTGGCAGTAGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTG GTGGTGGTAGTCGTGGTGGTAGTGGTAATGATGGTGGTGACCATGATGGT GGTGGTAGTGGTAGTGCTGCTGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGATGGTGGTGATGGTGGTGGTGGTGATGGTGGCGGCGGTGGCAGTAGTG GTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTAGTGGTGGTGG TGGTGGTAGTCGTGGTGGTAGTGGTAATGATGGTGGTGACCATGATGGTG GTGGTAGTGGTAGTGCTGCTGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GATGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0224 a0001c0001t0074g0224	1	384	0.0026	515	c.160 others(532): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGGT CACCACCATCATTACCACTACCACCACGACTACCACCACCACCACCACTA CCACCACCACCACCATCACCACCACCACCACCACCACCACCACCATCACC ACCACCACCACCACCACCACCACCATCACCACCACCACCACTACTGCCAC CGCCGCCACCATCACCACCACCACCATCACCACCATCACCACCACCACCA TCACCACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGGTC ACCACCATCATTACCACTACCACCACGACTACCACCACCACCACCACTAC CACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCA CCACCATCACCACCACCACCACTACTGCCACCGCCGCCACCATCACCACC ACCACCATCGCCGCCACCACCACCACCACCACCATCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYNN_chr3_169768396_169794716	169770602	A A	AATATAAA others(508): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAAT TTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAAATAA AAATTTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATATAAAAATTTATATTTATATATCATATAAAAATTTATATTTATATA TCATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATA TATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATT TATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTA TATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0049 a0001c0002t0002g0049	1	350	0.0029	515	c.-28 others(526): Show c.-2892_-2891insATATAAATATATAAAAATTTATATTTATATATCA TAAATATATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTT ATATATCATAAATAAAAATTTATATTTATATATCATAAATAAAAATTTAT ATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAAT TTATATTTATATATCATATATAAAAATTTATATTTATATATCATATAAAA ATTTATATTTATATATCATATAAAAATTTATATTTATATATCATATATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATATAAAAATTTATATATATCATATATAAAAATTTATATTTATATATC ATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATA TATCATATATAAAAATTTATATTTATATATC	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2793		chr3	TogoVar
MYOM2_chr8_2040046_2150456	2085831	G G	GCCTCCCA others(508): Show GCCTCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTG CGTGGCCTCCCACTGTCGTGATCTCCGCGTGGCCCCCTACTGTCGTGATC TCCACGTGGCCACACACTGTCATGATCTCTGCGTGGCCCCCCACTGTCGT GATCTCTGCGTGGCCCCCCACTGTCGTGATCTCCGCGTGGCCCCCCACTG TCGTGATCTCTGCGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCC ACTGTTGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTCTGTGTGGCC CCCCACTGTCGTGATCTCTTTGTGGCACCCCACTGTCGTGATCTCTGCGT GGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACTGTCGTGATCTCT GCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCACCCCACTGTCGTGAT CTCTGCGTGGCCTCCCACTGTTGTGATCTCTGTGTGGCCCCCCACAGTCG TGATCTCTTTGTGGCA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0070 a0070	a0070c0144 a0070c0144	a0070c0144t0001 a0070c0144t0001	a0070c0144t0001g0229 a0070c0144t0001g0229	1	403	0.0025	515	c.164 others(532): Show c.1644+443_1644+444insTCCCACTGTTGTGATCTCTGCGTGGCCC CCCACAGTCGTGATCTCTGCGTGGCCTCCCACTGTCGTGATCTCCGCGTG GCCCCCTACTGTCGTGATCTCCACGTGGCCACACACTGTCATGATCTCTG CGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTCGTGATC TCCGCGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTCGT GATCTCTGCGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACTG TTGTGATCTCTGTGTGGCCCCCCACTGTCGTGATCTCTTTGTGGCACCCC ACTGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCC CCCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGT GGCACCCCACTGTCGTGATCTCTGCGTGGCCTCCCACTGTTGTGATCTCT GTGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCACC	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYT1_chr20_64159452_64247253	64174098	C C	CCTGTAGT others(508): Show CCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTCCTGCAGCATCT TTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCT TTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCT TTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCT TTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGACTTCTCCTCCTGCAGCA TCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCGTCTCCTCCTGCA GCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCTTCTCCTGTA GCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTCCTGCA GCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCA GCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTGCCTGACTTCTCCTCCT GCAGCATCTTTCCCTG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	223	0.0045	515	c.-99 others(532): Show c.-99+9359_-99+9360insCTGTAGTTGTGTCCATTTCCCCTCCCTG GCTTCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCC CTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCC CTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCC CTGGCTTCTCCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCC CTGACTTCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCC TCCCTGGCGTCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTCC CCCTCCCTGGCTTCTCCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCC TCCCTGGCTTCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTC CCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTCC CCCTGCCTGACTTCTCCTCCTGCAGCATCTTTCCCTG	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22			chr20	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(508): Show CTGTGTACAGCATGTATACTGTATACAGCATGTATACTGTATACAGCATG TATACTGTATGTATGTATACTGTATGTATGTATACTGTATGTATGTATAC TGTATGTATGTATACCGTATATATACACAGTATGTATACCGTATATATAC ACAGTATGTATACCGTATATATACACAGTATGTATACCGTATATATACAC AGTATGTATACCGTATATATACACAGTATGTATACCGTATATATACACAG TATGTATACTGCATACAGTATGTATACTGTATACATACTGCATGCAGTAT GTATACTGTATACATACTGCATGCAGTATGTATACTGTATACATACTGCA TGCAGTATGTATACTGTATATATACACTATACAGTATGTATACTGTATAT ATACACACAGTATGTATACTGTATATATACACACAGTATGTATACTGTAT ATATACACACAGTATGTATACTGTATATATACACACAGTATGTATACTGT ATATATACACACAGTA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0242 a0001c0002t0003g0242	1	362	0.0028	515	c.-75 others(534): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTA TACATACTGTATAGTGTATATATACAGTATACATACTGCATGCAGTATGT ATACAGTATACATACTGCATGCAGTATGTATACAGTATACATACTGCATG CAGTATGTATACAGTATACATACTGTATGCAGTATACATACTGTGTATAT ATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATAT ACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATAC GGTATACATACTGTGTATATATACGGTATACATACATACAGTATACATAC ATACAGTATACATACATACAGTATACATACATACAGTATACATGCTGTAT ACAGTATACATGCTGTATACAGTATACATGCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NRCAM_chr7_108142649_108461436	108163931	G G	GGGGTAGT others(508): Show GGGGTAGTGAGAGGTCATACCGGGTGGGGTGGCGGTAATGAGAGGTCATA CCAGGTGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGTGGCGGTAAT GAGAGGTCATACCGGGTGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGG GTGGCGGTAATGAGAGGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCA TACCGGGTGGGGTGGGGTAATGAGAGGTCATACCGGGTGGGGTGGCGGTA ATGAGAGGTCATACCGGGTGGGGTGGGGTAATGAGAGGTCATACCAGGTG GGGTGGGGTAGTGAGAGGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTC ATACCGGGTGGGGTGGCGGTAATGAGAGGTCATACCGGGTGGGGTGGGGT AGTGAGAGGTCATACCGGGTGGGGTGGGGTAGTGAGAGGTCATACCGGGT GGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGTGGCGGTAATGAGAGG TCATACCAGGTGGGGT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0060 a0001c0002t0001g0060	1	208	0.0048	515	c.346 others(534): Show c.3466+2989_3466+2990insACCCCACCTGGTATGACCTCTCATTA CCGCCACCCCACCCGGTATGACCTCTCACTACCCCACCCCACCCGGTATG ACCTCTCACTACCCCACCCCACCCGGTATGACCTCTCACTACCCCACCCC ACCCGGTATGACCTCTCATTACCGCCACCCCACCCGGTATGACCTCTCAC TACCCCACCCCACCTGGTATGACCTCTCACTACCCCACCCCACCTGGTAT GACCTCTCATTACCCCACCCCACCCGGTATGACCTCTCATTACCGCCACC CCACCCGGTATGACCTCTCATTACCCCACCCCACCCGGTATGACCTCTCA CTACCCCACCCCACCTGGTATGACCTCTCATTACCGCCACCCCACCCGGT ATGACCTCTCACTACCCCACCCCACCCGGTATGACCTCTCATTACCGCCA CCCCACCCGGTATGACCTCTCACTACCCCACCCCACCTGGTATGACCTCT CATTACCGCCACCCCACCCGGTATGACCTCTCACTACCC	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	30/32			chr7	TogoVar
NRCAM_chr7_108142649_108461436	108299110	A A	AGAAAAGA others(508): Show AGAAAAGAAAAGAAAAGAAAAGAAAGAAAAGAAAAGAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAGAAAGAAAG AAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0006	1	208	0.0048	515	c.-10 others(536): Show c.-107+13554_-107+13555insCTTTCTTTCTTTCTTTCTTTCTTT CTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTCTTTTCTTTTCTTTCTTTTCTTTTCTTTTCTTTTC	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	3/32			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(508): Show TTTCAGAATAGATCTTTTCAGAATAGATCTTTTCAGAATAGATCTTTTCA GAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATA GATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCA GAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATA GATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTA	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	262	0.0038	515	c.129 others(532): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAAAAGATCTATTCTGAAAAGATCTATTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDIA6_chr2_10778391_10817785	10806628	C C	CAAAGAAG others(508): Show CAAAGAAGAAAGAAAGAAAGAAGAAAGAAAGAAAAAGGAAAGAAAAAGAA AAAAGAAGAAGAAAAGAAAGAAGAAAGAAAGAAAAGAAGAAAGAAAGAAG AAGAAAAAGACAGAAGAAAGGAAAAGAAAGAGAAGAATGAGAAAAGAAAG AGAAAGAGTAAAGAAGGAAAAGAAAGGAAGAAAGAAATAGAAGAATAGAA ATAAGAAAGAAGAAGAAAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAG AAAGAAAAAGAAAGAAAGAAAGAAGAAGAAAGAAAGAAAGAAAGAAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAGAGAAGAAAGAAAGAAAGAAAGAAAGA AAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAAAGAAAAGAAAAAAAGAA AGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0183 a0002c0002t0001g0183	1	342	0.0029	515	c.20- others(530): Show c.20-3989_20-3988insTTCTTTCTTTCTTTCTTTCTTTTTTTCTTT TCTTTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCTTTCTTTCTTTC TTTCTTTCTTCTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTT CTTTCTTTCTTCTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCT TTCTTTTCTTTCTTTCTTTTTCTTCTTCTTTCTTATTTCTATTCTTCTAT TTCTTTCTTCCTTTCTTTTCCTTCTTTACTCTTTCTCTTTCTTTTCTCAT TCTTCTCTTTCTTTTCCTTTCTTCTGTCTTTTTCTTCTTCTTTCTTTCTT CTTTTCTTTCTTTCTTCTTTCTTTTCTTCTTCTTTTTTCTTTTTCTTTCC TTTTTCTTTCTTTCTTCTTTCTTTCTTTCTTCTTT	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PRPF31_chr19_54110754_54136713	54133740	C C	CTCCCTCC others(508): Show CTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTC CCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCC CTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCA CCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTC CCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTC TCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCC CCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCT CCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCAC CTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCC CTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCC ACCTCCCCTCCCTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	227	0.0044	515	c.23 others(526): Show c.2308_*2309insTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTC CTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGT CTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCT CCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCC CTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCA CCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTC CCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTC TCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTC CCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCC TCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCC ACCTTCCCTGTCTCCACCTCCCCTCCCTCTG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2028		chr19	TogoVar
RAB11FIP3_chr16_420649_528011	504279	C C	CTCCCATC others(508): Show CTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTC CTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCC TCACCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGT GCACCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACC TCTTCCTGTACCCGCCTCACCTCCTCCTGCACTCCCATCTCCTCCTGTAC CCCCTCACCTCCTTGTGCACCCCTCACCTCCTGTACCCCCTCACCTCCTC CTGTACCCCCCTCACCTCTTCCTGTACCACCTCCTCCTGTACCCCCTCAC CTCCTCTTGCACCCCCCTTGCCTCCTGTACCCCCTCACCTCCTTGTGCAC CCCCTCACCTCCTGTACCCCCCTCACCTCCTCCTGTACCCGCCTCACCTC CTCCTGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCC CTCACCTCCTCCTATA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0183 a0001c0002t0002g0183	1	295	0.0034	515	c.139 others(534): Show c.1395+1182_1395+1183insTCCCATCTCCTCCTGTACCCCCTCAC CTCCTTGTGCACCCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACC CCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGCACTCCCATCTCCT CCTGTACCCCCTCACCTCCTTGTGCACCCCTCACCTCCTGTACCCCCTCA CCTCCTCCTGTACCCCCCTCACCTCTTCCTGTACCCGCCTCACCTCCTCC TGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCTCAC CTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCTTCCTGTAC CACCTCCTCCTGTACCCCCTCACCTCCTCTTGCACCCCCCTTGCCTCCTG TACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCCTCACC TCCTCCTGTACCCGCCTCACCTCCTCCTGCACTCCCATCTCCTCCTGTAC CCCCTCACCTCCTTGTGCACCCCCTCACCTCCTCCTATA	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13			chr16	TogoVar
RAB3C_chr5_58578075_58864394	58597791	T T	TACGATAA others(508): Show TACGATAACATGTAATACATTATATATAAGTATACGATAACATGTAATAC ATTATATATAAGTATACGATAACATGTAATACATTATATATAAGTATACG ATAACATGTAATACATTATATATAAGTATACGATAACATGTAATACATTA TATATAAGTATACGATAACATGTAATACATTATATATAAGTATACGATAA CATGTAATACATTATATATAAGTATACGATAACATGTAATACATTATATA TAAGTATACGATAACATGTAATACATTATATATAAGTATACGATAACATG TAATACATTATATATAAGTATACGATAACATGTAATACATTATATATAAG TATACGATAACATGTAATACATTATATATAAGTATACGATAACATGTAAT ACATTATATATAAGTATACGATAACATGTAATACATTATATATAAGTATA CGATAACATGTAATACATTATATATAAGTATACGATAACATGTAATACAT TATATATAAGTATACG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0010 a0001c0001t0011g0010	1	220	0.0046	515	c.24+ others(532): Show c.24+14560_24+14561insCGATAACATGTAATACATTATATATAAG TATACGATAACATGTAATACATTATATATAAGTATACGATAACATGTAAT ACATTATATATAAGTATACGATAACATGTAATACATTATATATAAGTATA CGATAACATGTAATACATTATATATAAGTATACGATAACATGTAATACAT TATATATAAGTATACGATAACATGTAATACATTATATATAAGTATACGAT AACATGTAATACATTATATATAAGTATACGATAACATGTAATACATTATA TATAAGTATACGATAACATGTAATACATTATATATAAGTATACGATAACA TGTAATACATTATATATAAGTATACGATAACATGTAATACATTATATATA AGTATACGATAACATGTAATACATTATATATAAGTATACGATAACATGTA ATACATTATATATAAGTATACGATAACATGTAATACATTATATATAAGTA TACGATAACATGTAATACATTATATATAAGTATACGA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAP1GAP2_chr17_2791438_3042741	2831059	C C	CTCCCCCT others(508): Show CTCCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCTTCCCCTCCCCTTCC CTCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCC TCCCCTTCCTTCCCCTCCCCTCCTCCCCCCTCCCTCCCCTCTGCTTCCTT CCCCTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCCTTCCCCTCCCCT CCCCTTCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCTCCCCTT TTCTCCCTTCCCCTCCCATCCCCTACACTTCCCTCCCCTCCCCTTCCCTA CACTTCCGTCCCCTCCCCTTCCCTACACTTCCCTTCCCTCCCCTCCCCTC CCTTTCCCTCCTCTTCCCTCCCCTCCCTTCCCGTCCCCTTCCCTCCCTTC CCCTCCCCCACCCTCCCTTCCCCTCCCTTCTTCTCTCCCCCTCCCCTCCC CTTCCCTCCCTTCCCCTCCCCTCCCCTCCCCTCCCTTTCCCTCCCCTCCC CTCCCCTCCCTTCCCA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0099 a0002c0003t0006g0099	1	218	0.0046	515	c.80+ others(532): Show c.80+30514_80+30515insCTCCCCTTCCCTCCCTTTCCCTCCCCTC CTTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCC TCTCCCCTCCCTCCCCTCCCCTTCCTTCCCCTCCCCTCCTCCCCCCTCCC TCCCCTCTGCTTCCTTCCCCTCCCCTCCCCTTCCCTCCCTTTCCCTCCCC TCCCTTCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCTCTCCCC TCCCTCCCCTCCCCTTTTCTCCCTTCCCCTCCCATCCCCTACACTTCCCT CCCCTCCCCTTCCCTACACTTCCGTCCCCTCCCCTTCCCTACACTTCCCT TCCCTCCCCTCCCCTCCCTTTCCCTCCTCTTCCCTCCCCTCCCTTCCCGT CCCCTTCCCTCCCTTCCCCTCCCCCACCCTCCCTTCCCCTCCCTTCTTCT CTCCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTCCCCTCC CTTTCCCTCCCCTCCCCTCCCCTCCCTTCCCATCCCC	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	2831059	C C	CTCCCCTC others(508): Show CTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCTTCCCCTCCCCTTCCC TCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCT CCCCTTCCTTCCCCTCCCCTCCTCCCCCCTCCCTCCCCTCTCCTTCCTTC CCCTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCCTTCCCCTCCCCTC CCCTTCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCTCCCCTTT TCTCCCTTCCCCTCCCATCCCCTACACTTCCCTCCCCTCCCCTTCCCTAC ACTTCCGTCCCCTCCCCTTCCCTACACTTCCCTTCCCTCCCCTCCCCTCC CTTTCCCTCCTCTTCCCTCCCCTCCCTTCCCGTCCCCTTCCCTCCCTTCC CCCTCCCCCACCCTCCCTTCCCCTCCCTTCTTCTCTCCCCCTCCCCTCCC CTTCCCTCCCTTCCCCTCCCCTCCCCTCCCCTCCCTTTCCCTCCCCTCCC CTCCCCTCCCTTCCCA	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0082 a0001c0001t0082	a0001c0001t0082g0023 a0001c0001t0082g0023	1	218	0.0046	515	c.80+ others(532): Show c.80+30515_80+30516insCCCCTTCCCTCCCTTTCCCTCCCCTCCT TCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTC TCCCCTCCCTCCCCTCCCCTTCCTTCCCCTCCCCTCCTCCCCCCTCCCTC CCCTCTCCTTCCTTCCCCTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTC CCTTCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCTCTCCCCTC CCTCCCCTCCCCTTTTCTCCCTTCCCCTCCCATCCCCTACACTTCCCTCC CCTCCCCTTCCCTACACTTCCGTCCCCTCCCCTTCCCTACACTTCCCTTC CCTCCCCTCCCCTCCCTTTCCCTCCTCTTCCCTCCCCTCCCTTCCCGTCC CCTTCCCTCCCTTCCCCCTCCCCCACCCTCCCTTCCCCTCCCTTCTTCTC TCCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTCCCCTCCC TTTCCCTCCCCTCCCCTCCCCTCCCTTCCCATCCCCT	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	2831059	C C	CTCCCCTC others(508): Show CTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCTTCCCCTCCCCTTCCC TCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCT CCCCTTCCTTCCCCTCCCCTCCTCCCCCCTCCCTCCCCTCTCCTTCCTTC CCCTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCCTTCCCCTCCCCTC CCCTTCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCTCCCCTTT TCTCCCTTCCCCTCCCATCCCCTACACTTCCCTCCCCTCCCCTTCCCTAC ACTTCCGTCCCCTCCCCTTCCCTACACTTCCCTTCCCTCCCCTCCCCTCC CTTTCCCTCCTCTTCCCTCCCCTCCCTTCCCGTCCCCTTCCCTCCCTTCC CCTCCCCCACCCTCCCTTCCCCTCCCTTCTTCTCTCCCCCTCCCCCTCCC CTTCCCTCCCTTCCCCTCCCCTCCCCTCCCCTCCCTTTCCCTCCCCTCCC CTCCCCTCCCTTCCCA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG03669.hp2 HG01070.hp1 HG03669.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0006 a0001c0005 a0002c0006	a0001c0005t0011 a0002c0006t0002 a0001c0005t0011 a0002c0006t0002	a0001c0005t0011g0022 a0002c0006t0002g0064 a0001c0005t0011g0022 a0002c0006t0002g0064	2	218	0.0092	515	c.80+ others(532): Show c.80+30515_80+30516insCCCCTTCCCTCCCTTTCCCTCCCCTCCT TCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTC TCCCCTCCCTCCCCTCCCCTTCCTTCCCCTCCCCTCCTCCCCCCTCCCTC CCCTCTCCTTCCTTCCCCTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTC CCTTCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCTCTCCCCTC CCTCCCCTCCCCTTTTCTCCCTTCCCCTCCCATCCCCTACACTTCCCTCC CCTCCCCTTCCCTACACTTCCGTCCCCTCCCCTTCCCTACACTTCCCTTC CCTCCCCTCCCCTCCCTTTCCCTCCTCTTCCCTCCCCTCCCTTCCCGTCC CCTTCCCTCCCTTCCCCTCCCCCACCCTCCCTTCCCCTCCCTTCTTCTCT CCCCCTCCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTCCCCTCCC TTTCCCTCCCCTCCCCTCCCCTCCCTTCCCATCCCCT	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	2831059	C C	CTCCCCTC others(508): Show CTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCTTCCCCTCCCCTTCCC TCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCT CCCCTTCCTTCCCCTCCCCTCCTCCCCCCTCCCTCCCCTCTGCTTCCTTC CCCTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCCTTCCCCTCCCCCT CCCCTTCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCTCCCCTT TTCTCCCTTCCCCTCCCATCCCCTACACTTCCCTCCCCTCCCCTTCCCTA CACTTCCGTCCCCTCCCCTTCCCTACACTTCCCTTCCCTCCCCTCCCCTC CCTTTCCCTCCTCTTCCCTCCCCTCCCTTCCCGTCCCCTTCCCTCCCTTC CCCTCCCCCACCCTCCCTTCCCCTCCCTTCTTCTCTCCCCCTCCCCTCCC CTTCCCTCCCTTCCCCTCCCCTCCCCTCCCCTCCCTTTCCCTCCCCTCCC CTCCCCTCCCTTCCCA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0120 a0001c0004t0006g0120	1	218	0.0046	515	c.80+ others(532): Show c.80+30515_80+30516insCCCCTTCCCTCCCTTTCCCTCCCCTCCT TCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTC TCCCCTCCCTCCCCTCCCCTTCCTTCCCCTCCCCTCCTCCCCCCTCCCTC CCCTCTGCTTCCTTCCCCTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTC CCTTCCCCTCCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCTCTCCCCT CCCTCCCCTCCCCTTTTCTCCCTTCCCCTCCCATCCCCTACACTTCCCTC CCCTCCCCTTCCCTACACTTCCGTCCCCTCCCCTTCCCTACACTTCCCTT CCCTCCCCTCCCCTCCCTTTCCCTCCTCTTCCCTCCCCTCCCTTCCCGTC CCCTTCCCTCCCTTCCCCTCCCCCACCCTCCCTTCCCCTCCCTTCTTCTC TCCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTCCCCTCCC TTTCCCTCCCCTCCCCTCCCCTCCCTTCCCATCCCCT	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	2831059	C C	CTCCCCTC others(508): Show CTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCTTCCCCTCCCCTTCCC TCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCT CCCCTTCCTTCCCCTCCCCTCCTCCCCCCTCCCTCCCCTCTGCTTCCTTC CCCTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCCTTCCCCTCCCCTC CCCTTCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCTCCCCTTT TCTCCCTTCCCCTCCCATCCCCTACACTTCCCTCCCCTCCCCTTCCCTAC ACTTCCGTCCCCTCCCCTTCCCTACACTTCCCTTCCCTCCCCTCCCCTCC CTTTCCCTCCTCTTCCCTCCCCTCCCTTCCCGTCCCCTTCCCTCCCTTCC CCTCCCCCACCCTCCCTTCCCCTCCCTTCTTCTCTCCCCCTCCCCTCCCC TTCCCTCCCTTCCCCTCCCCTCCCCTCCCCCTCCCTTTCCCTCCCCTCCC CTCCCCTCCCTTCCCA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0006 a0001c0001t0077g0006	1	218	0.0046	515	c.80+ others(532): Show c.80+30515_80+30516insCCCCTTCCCTCCCTTTCCCTCCCCTCCT TCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTC TCCCCTCCCTCCCCTCCCCTTCCTTCCCCTCCCCTCCTCCCCCCTCCCTC CCCTCTGCTTCCTTCCCCTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTC CCTTCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCTCTCCCCTC CCTCCCCTCCCCTTTTCTCCCTTCCCCTCCCATCCCCTACACTTCCCTCC CCTCCCCTTCCCTACACTTCCGTCCCCTCCCCTTCCCTACACTTCCCTTC CCTCCCCTCCCCTCCCTTTCCCTCCTCTTCCCTCCCCTCCCTTCCCGTCC CCTTCCCTCCCTTCCCCTCCCCCACCCTCCCTTCCCCTCCCTTCTTCTCT CCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTCCCCCTCCC TTTCCCTCCCCTCCCCTCCCCTCCCTTCCCATCCCCT	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RFC1_chr4_39282456_39371362	39348424	A A	AAAAAGAA others(508): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp2 HG01515.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0200 a0001c0001t0001g0201	2	276	0.0073	515	c.132 others(532): Show c.132+2923_132+2924insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
RGS12_chr4_3288021_3444913	3341671	G G	GGAGGGTG others(508): Show GGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGATGAG GGTGTGGGGAGGGGACAAGGGTGGAGAGATGGGGGTGTGGGGGGAGGGAG GGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGGAGAGATGGGGGTG TGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGGGTGGAG AGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGGTGTGGGGGG AGGGGAGGGTGGAGAGATGAGGGTGTGGGGAGGGGACAAGGGTGGAGAGA TGGGGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGG GAGGGTGGAGAGATGGGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGT GTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTG GAGAGTTGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGATGGGGGTGTGGG GGGAGGGGAGGGTGGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02809.hp1 HG02922.hp2 HG01891.hp2 HG02809.hp1 HG02922.hp2	a0003 a0003	a0003c0016 a0003c0017 a0003c0016 a0003c0017	a0003c0016t0001 a0003c0017t0001 a0003c0016t0001 a0003c0017t0001	a0003c0016t0001g0204 a0003c0017t0001g0201 a0003c0017t0001g0202 a0003c0016t0001g0204 a0003c0017t0001g0201 a0003c0017t0001g0202	3	312	0.0096	515	c.188 others(534): Show c.1882-1263_1882-1262insGGTGGAGAGTTGGGGGTGTGGGGGGA GGGGAGGGTGGAGAGATGAGGGTGTGGGGAGGGGACAAGGGTGGAGAGAT GGGGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGG AGGGTGGAGAGATGGGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGTG TGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGG AGAGTTGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGATGAGGGTGTGGGG AGGGGACAAGGGTGGAGAGATGGGGGTGTGGGGGGAGGGAGGGTGGAGAG ATGGGGGTGTGGGCGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGG GACAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGG TGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGGAGGG TGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RNF213_chr17_80255852_80403794	80274587	T T	TGGGGGGT others(508): Show TGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGG GTGAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTGAGTGTGGGGTGAGTGG GGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAG TGTGGGGGGTGAGTGGGGTGAGTGGGGTGAGTGGGGTGAATGTGGGGTGA GTGGGGTGAGTGTGGGGGGTGAGTGGGGTGATGGGGGTGAGTGGGGTGAG TGTGGGGGGTGAGCGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGG GAGTGAGTGGGGTGAGTGTGGGGTGATGGGGTGAGTGTGGGGGGTGAGGG GGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGA GTGGGGTGAGTGGGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGTC TGGGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGG GTGAGTGGGGTGAGTG	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0003 a0003	a0003c0077 a0003c0077	a0003c0077t0023 a0003c0077t0023	a0003c0077t0023g0056 a0003c0077t0023g0056	1	292	0.0034	515	c.261 others(532): Show c.261+1222_261+1223insAGTGTGGGGGGTGAGTGGGGTGAGTGTG GGGAGTGAGTGGGGTGAGTGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGA GTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGG TGAGTGGGGTGAGTGGGGTGAATGTGGGGTGAGTGGGGTGAGTGTGGGGG GTGAGTGGGGTGATGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGCGGGG TGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTGAGTG TGGGGTGATGGGGTGAGTGTGGGGGGTGAGGGGGGTGAGTGGGGTGTCTG TGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGGGT GAGTGGGGTGAGTGGGGGGTGAGTGGGGTGTCTGGGGGGTGAGTGGGGTG TCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGG GGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67		INFO_REALIGN_3_PRIME	chr17	TogoVar

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Search Results (Total: 10000 hits)