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
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATATA others(539): Show AATATATAAATTATATATAATATATAATATAATTATATAATATATAATTA TATTCTATATAGAATATAATTATATAATATATAATTATATTATATATTAT ATAATTATAATATAATATATAATATAATTATATTATATATAATTATATTA AACATATTATATAATATATAATTATATTATATATTATATAATCTATAATT ATATTATATATTATATAATCTATAATTATATTATATATTATATAATATAT AATTATATTATATATTATATAATATATAATTATATTATATATTATATAAT ATATAATTATATTATATATTATAATACATTTAATATAATTATATTATAGA TTATAATCTATAATATAATTATATTAATAGTATTATAATATATAATATAT TATATATAATTATATTATAACTTATTATATATAATTATATTATAGATCAT AATCTATAATATAATTATATATAATATGTTATAATATATAATTATATTCT ATATATAATTATATATAATATAATTATATTCTATATATAATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	288	0.0035	546	c.-32 others(557): Show c.-3200_-3199insAATTATATTATATATAGAATATAATTATATTATA TATAATTATATATAGAATATAATTATATATTATAACATATTATATATAAT TATATTATAGATTATGATCTATAATATAATTATATATAATAAGTTATAAT ATAATTATATATAATATATTATATATTATAATACTATTAATATAATTATA TTATAGATTATAATCTATAATATAATTATATTAAATGTATTATAATATAT AATATAATTATATATTATATAATATATAATATAATTATATATTATATAAT ATATAATATAATTATATATTATATAATATATAATATAATTATAGATTATA TAATATATAATATAATTATAGATTATATAATATATAATATAATTATATAT TATATAATATGTTTAATATAATTATATATAATATAATTATATTATATATT ATATTATAATTATATAATATATAATATAATTATATATTATATAATTATAT TCTATATAGAATATAATTATATATTATATAATTATATTATATATTATATA TAATTTATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3129		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATATA others(539): Show AATATATAAATTATATATAATATATAATATAATTATATAATATATAATTA TATTCTATATAGAATATAATTATATAATATATAATTATATTATATATTAT ATAATTATAATATAATATATAATATAATTATATTATATATAATTATATTA AACATATTATATAATATATAATTATATTATATATTATATAATCTATAATT ATATTATATATTATATAATCTATAATTATATTATATATTATATAATCTAT AATTATATTATATATTATATAATATATAATTATATTATATATTATATAAT ATATAATTATATTATATATTATAATACATTTAATATAATTATATTATAGA TTATAATCTATAATATAATTATATTAATAGTATTATAATATATAATATAT TATATATAATTATATTATAACTTATTATATATAATTATATTATAGATCAT AATCTATAATATAATTATATATAATATGTTATAATATATAATTATATTCT ATATATAATTATATATAATATAATTATATTCTATATATAATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG02132.hp2 others(4): Show HG01070.hp2 HG01071.hp2 HG02132.hp2 NA18975.hp2 NA18982.hp1 NA18988.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0001 a0001c0001t0001g0012	7	288	0.0243	546	c.-32 others(557): Show c.-3200_-3199insAATTATATTATATATAGAATATAATTATATTATA TATAATTATATATAGAATATAATTATATATTATAACATATTATATATAAT TATATTATAGATTATGATCTATAATATAATTATATATAATAAGTTATAAT ATAATTATATATAATATATTATATATTATAATACTATTAATATAATTATA TTATAGATTATAATCTATAATATAATTATATTAAATGTATTATAATATAT AATATAATTATATATTATATAATATATAATATAATTATATATTATATAAT ATATAATATAATTATAGATTATATAATATATAATATAATTATAGATTATA TAATATATAATATAATTATAGATTATATAATATATAATATAATTATATAT TATATAATATGTTTAATATAATTATATATAATATAATTATATTATATATT ATATTATAATTATATAATATATAATATAATTATATATTATATAATTATAT TCTATATAGAATATAATTATATATTATATAATTATATTATATATTATATA TAATTTATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3129		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATATA others(539): Show AATATATAAATTATATATAATATATAATATAATTATATAATATATAATTA TATTCTATATAGAATATAATTATATAATATATAATTATATTATATATTAT ATAATTATAATATAATATATAATATAATTATATTATATATAATTATATTA AACATATTATATAATATATAATTATATTATATATTATATAATCTATAATT ATATTATATATTATATAATCTATAATTATATTATATATTATATAATCTAT AATTATATTATATATTATATAATCTATAATTATATTATATATTATATAAT CTATAATTATATTATATATTATAATACATTTAATATAATTATATTATAGA TTATAATCTATAATATAATTATATTAATAGTATTATAATATATAATATAT TATATATAATTATATTATAACTTATTATATATAATTATATTATAGATCAT AATCTATAATATAATTATATATAATATGTTATAATATATAATTATATTCT ATATATAATTATATATAATATAATTATATTCTATATATAATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	288	0.0035	546	c.-32 others(557): Show c.-3200_-3199insAATTATATTATATATAGAATATAATTATATTATA TATAATTATATATAGAATATAATTATATATTATAACATATTATATATAAT TATATTATAGATTATGATCTATAATATAATTATATATAATAAGTTATAAT ATAATTATATATAATATATTATATATTATAATACTATTAATATAATTATA TTATAGATTATAATCTATAATATAATTATATTAAATGTATTATAATATAT AATATAATTATAGATTATATAATATATAATATAATTATAGATTATATAAT ATATAATATAATTATAGATTATATAATATATAATATAATTATAGATTATA TAATATATAATATAATTATAGATTATATAATATATAATATAATTATATAT TATATAATATGTTTAATATAATTATATATAATATAATTATATTATATATT ATATTATAATTATATAATATATAATATAATTATATATTATATAATTATAT TCTATATAGAATATAATTATATATTATATAATTATATTATATATTATATA TAATTTATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3129		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATATA others(539): Show AATATATAAATTATATATAATATATAATATAATTATATAATATATAATTA TATTCTATATAGAATATAATTATATAATATATAATTATATTATATATTAT ATAATTATAATATAATATATAATATAATTATATTATATATAATTATATTA AACATATTATATAATCTATAATTATATTATATATTATATAATCTATAATT ATATTATATATTATATAATCTATAATTATATTATATATTATATAATCTAT AATTATATTATATATTATATAATATATAATTATATTATATATTATATAAT ATATAATTATATTATATATTATAATACATTTAATATAATTATATTATAGA TTATAATCTATAATATAATTATATTAATAGTATTATAATATATAATATAT TATATATAATTATATTATAACTTATTATATATAATTATATTATAGATCAT AAACTATAATATAATTATATATAATATGTTATAATATATAATTATATTCT ATATATAATTATATATAATATAATTATATTCTATATATAATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	288	0.0035	546	c.-32 others(557): Show c.-3200_-3199insAATTATATTATATATAGAATATAATTATATTATA TATAATTATATATAGAATATAATTATATATTATAACATATTATATATAAT TATATTATAGTTTATGATCTATAATATAATTATATATAATAAGTTATAAT ATAATTATATATAATATATTATATATTATAATACTATTAATATAATTATA TTATAGATTATAATCTATAATATAATTATATTAAATGTATTATAATATAT AATATAATTATATATTATATAATATATAATATAATTATATATTATATAAT ATATAATATAATTATAGATTATATAATATATAATATAATTATAGATTATA TAATATATAATATAATTATAGATTATATAATATATAATATAATTATAGAT TATATAATATGTTTAATATAATTATATATAATATAATTATATTATATATT ATATTATAATTATATAATATATAATATAATTATATATTATATAATTATAT TCTATATAGAATATAATTATATATTATATAATTATATTATATATTATATA TAATTTATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3129		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATATA others(539): Show AATATATAAATTATATATAATATATAATATAATTATATAATATATAATTA TATTCTATATAGAATATAATTATATAATATATAATTATATTATATATTAT ATAATTATAATATAATATATAATATAATTATATTATATATAATTATATTA AACATATTATATAATCTATAATTATATTATATATTATATAATCTATAATT ATATTATATATTATATAATCTATAATTATATTATATATTATATAATCTAT AATTATATTATATATTATATAATATATAATTATATTATATATTATATAAT ATATAATTATATTATATATTATAATACATTTAATATAATTATATTATAGA TTATAATCTATAATATAATTATATTAATAGTATTATAATATATAATATAT TATATATAATTATATTATAACTTATTATATATAATTATATTATAGATCAT AATCTATAATATAATTATATATAATATGTTATAATATATAATTATATTCT ATATATAATTATATATAATATAATTATATTCTATATATAATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	288	0.0035	546	c.-32 others(557): Show c.-3200_-3199insAATTATATTATATATAGAATATAATTATATTATA TATAATTATATATAGAATATAATTATATATTATAACATATTATATATAAT TATATTATAGATTATGATCTATAATATAATTATATATAATAAGTTATAAT ATAATTATATATAATATATTATATATTATAATACTATTAATATAATTATA TTATAGATTATAATCTATAATATAATTATATTAAATGTATTATAATATAT AATATAATTATATATTATATAATATATAATATAATTATATATTATATAAT ATATAATATAATTATAGATTATATAATATATAATATAATTATAGATTATA TAATATATAATATAATTATAGATTATATAATATATAATATAATTATAGAT TATATAATATGTTTAATATAATTATATATAATATAATTATATTATATATT ATATTATAATTATATAATATATAATATAATTATATATTATATAATTATAT TCTATATAGAATATAATTATATATTATATAATTATATTATATATTATATA TAATTTATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3129		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATATA others(539): Show AATATATAAATTATATATAATATATAATATAATTATATAATATATAATTA TATTCTATATAGAATATAATTATATAATATATAATTATATTATATATTAT ATAATTATAATATAATATATAATATAATTATATTATATATAATTATATTA AACATATTATATAATCTATAATTATATTATATATTATATAATCTATAATT ATATTATATATTATATAATCTATAATTATATTATATATTATATAATCTAT AATTATATTATATATTATATAATCTATAATTATATTATATATTATATAAT ATATAATTATATTATATATTATAATACATTTAATATAATTATATTATAGA TTATAATCTATAATATAATTATATTAATAGTATTATAATATATAATATAT TATATATAATTATATTATAACTTATTATATATAATTATATTATAGATCAT AATCTATAATATAATTATATATAATATGTTATAATATATAATTATATTCT ATATATAATTATATATAATATAATTATATTCTATATATAATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG01943.hp1 HG00140.hp2 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0003g0009 a0001c0001t0001g0001 a0001c0001t0003g0009	2	288	0.0069	546	c.-32 others(557): Show c.-3200_-3199insAATTATATTATATATAGAATATAATTATATTATA TATAATTATATATAGAATATAATTATATATTATAACATATTATATATAAT TATATTATAGATTATGATCTATAATATAATTATATATAATAAGTTATAAT ATAATTATATATAATATATTATATATTATAATACTATTAATATAATTATA TTATAGATTATAATCTATAATATAATTATATTAAATGTATTATAATATAT AATATAATTATATATTATATAATATATAATATAATTATAGATTATATAAT ATATAATATAATTATAGATTATATAATATATAATATAATTATAGATTATA TAATATATAATATAATTATAGATTATATAATATATAATATAATTATAGAT TATATAATATGTTTAATATAATTATATATAATATAATTATATTATATATT ATATTATAATTATATAATATATAATATAATTATATATTATATAATTATAT TCTATATAGAATATAATTATATATTATATAATTATATTATATATTATATA TAATTTATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3129		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATATA others(539): Show AATATATAAATTATATATAATATATAATATAATTATATAATATATAATTA TATTCTATATAGAATATAATTATATAATATATAATTATATTATATATTAT ATAATTATAATATAATATATAATATAATTATATTATATATAATTATATTA AACATATTATATTATATATAATTATATTATATATTATATAATATATAATT ATATTATATATTATATAATCTATAATTATATTATATATTATATAATCTAT AATTATATTATATATTATATAATCTATAATTATATTATATATTATATAAT ATATAATTATATTATATATTATAATACATTTAATATAATTATATTATAGA TTATAATCTATAATATAATTATATTAATAGTATTATAATATATAATATAT TATATATAATTATATTATAACTTATTATATATAATTATATTATAGATCAT AATCTATAATATAATTATATATAATATGTTATAATATATAATTATATTCT ATATATAATTATATATAATATAATTATATTCTATATATAATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	288	0.0035	546	c.-32 others(557): Show c.-3200_-3199insAATTATATTATATATAGAATATAATTATATTATA TATAATTATATATAGAATATAATTATATATTATAACATATTATATATAAT TATATTATAGATTATGATCTATAATATAATTATATATAATAAGTTATAAT ATAATTATATATAATATATTATATATTATAATACTATTAATATAATTATA TTATAGATTATAATCTATAATATAATTATATTAAATGTATTATAATATAT AATATAATTATATATTATATAATATATAATATAATTATAGATTATATAAT ATATAATATAATTATAGATTATATAATATATAATATAATTATAGATTATA TAATATATAATATAATTATATATTATATAATATATAATATAATTATATAT AATATAATATGTTTAATATAATTATATATAATATAATTATATTATATATT ATATTATAATTATATAATATATAATATAATTATATATTATATAATTATAT TCTATATAGAATATAATTATATATTATATAATTATATTATATATTATATA TAATTTATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3129		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATATA others(539): Show AATATATAAATTATATATAATATATAATATAATTATATAATATATAATTA TATTCTATATAGAATATAATTATATATTATATAATTATATTATATATTAT ATAATTATAATATAATATATAATATAATTATATTATATATAATTATATTA AACATATTATATAATATATAATTATATTATATATTATATAATATATAATT ATATTATATATTATATAATCTATAATTATATTATATATTATATAATCTAT AATTATATTATATATTATATAATATATAATTATATTATATATTATATAAT ATATAATTATATTATATATTATAATACATTTAATATAATTATATTATAGA TTATAATCTATAATATAATTATATTAATAGTATTATAATATATAATATAT TATATATAATTATATTATAACTTATTATATATAATTATATTATAGATCAT AATCTATAATATAATTATATATAATATGTTATAATATATAATTATATTCT ATATATAATTATATATAATATAATTATATTCTATATATAATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	288	0.0035	546	c.-32 others(557): Show c.-3200_-3199insAATTATATTATATATAGAATATAATTATATTATA TATAATTATATATAGAATATAATTATATATTATAACATATTATATATAAT TATATTATAGATTATGATCTATAATATAATTATATATAATAAGTTATAAT ATAATTATATATAATATATTATATATTATAATACTATTAATATAATTATA TTATAGATTATAATCTATAATATAATTATATTAAATGTATTATAATATAT AATATAATTATATATTATATAATATATAATATAATTATATATTATATAAT ATATAATATAATTATAGATTATATAATATATAATATAATTATAGATTATA TAATATATAATATAATTATATATTATATAATATATAATATAATTATATAT TATATAATATGTTTAATATAATTATATATAATATAATTATATTATATATT ATATTATAATTATATAATATATAATATAATTATATAATATATAATTATAT TCTATATAGAATATAATTATATATTATATAATTATATTATATATTATATA TAATTTATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3129		chr19	TogoVar
MPPED1_chr22_43407014_43512848	43432644	G G	GAGAGAGA others(539): Show GAGAGAGAGGGAAAGAGAGAGAGAAGGGGAGGAGAGAGAGAAAGGGAGGA GAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGAGG AGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGG AGGAGAGAGAGAGGGAAAGAGAAAGGGAGGAGAGAGAGGGAAAGAGAGAA GGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGAGAGAGAGAAAGG GAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAG GGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGA GAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAG AGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGA GAGAGAGAAAGGGAGGAGAGGGAAAGAGAAAGGGAGGAGAGAGAGAGAAA GGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01192.hp1 HG01358.hp1 others(1): Show HG00639.hp1 HG01192.hp1 HG01358.hp1 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 others(1): Show a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0173	4	250	0.0160	546	c.225 others(563): Show c.225-2390_225-2389insAGAGAGAGGGAAAGAGAGAGAGAAGGGG AGGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGG GAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAG GGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGGGAAAGAGAAAGGGAG GAGAGAGAGGGAAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAGAGAGA GAGAAAGGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAG AAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGA GAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGG AGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAG GAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGGGAAAGAGA AAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAG AGAGAGAAAGGGAGGAGA	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6			chr22	TogoVar
MPPED1_chr22_43407014_43512848	43500278	C C	CGGTGGTG others(539): Show CGGTGGTGATGGTGGTGGTGGTGATGGGGGTGGTGGTGGTGATGGCGATG GAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGATGGTGATGGAGGT GGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTAGTGGTGGTGG TGGTGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATG GAGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGAGGTGGTGATGGGGGT GGTGGTGGTGATGGTGATGGAGGTGGTGGTGATGGTGATGGAGGTGGTGG AGGTGGTGGTGGTGGTGGTGATGGAAGTGGTGATGGGGGTGGTGGTGGTG ATGGTGATGGAGGTGGTGGTGGTGGTGGTGGTGGTGATGGAGGTGGTGAT GGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGATGGCGATGGAGG TGGTAGTGGTGGTGATGAAGGTGGTGATGGAGGTGGTAATGGAGGTGGTG GGGGTGATGGTGGTGATGGTGATGGAGGTGGCAGTGATGATGGTGGT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0010 a0001c0013t0010	a0001c0013t0010g0099 a0001c0013t0010g0099	1	250	0.0040	546	c.748 others(563): Show c.748+1939_748+1940insTGGTGGTGGTGATGGGGGTGGTGGTGGT GATGGCGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGATGG TGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTA GTGGTGGTGGTGGTGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGT GATGGTGATGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGAGGTGG TGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGATGGTGATG GAGGTGGTGGAGGTGGTGGTGGTGGTGGTGATGGAAGTGGTGATGGGGGT GGTGGTGGTGATGGTGATGGAGGTGGTGGTGGTGGTGGTGGTGGTGATGG AGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGATG GCGATGGAGGTGGTAGTGGTGGTGATGAAGGTGGTGATGGAGGTGGTAAT GGAGGTGGTGGGGGTGATGGTGGTGATGGTGATGGAGGTGGCAGTGATGA TGGTGGTGGTGGTGATGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MTERF3_chr8_96234402_96266610	96250613	G G	GGAGGAGG others(539): Show GGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGAAGAGAAGAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAGGAGGAA GAGGAGGAGGAAGAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGGAGGAAGAGGAGGAAGAAGAGGAGGAGGAGGAGGAAGAGGAA GAAGAAGAGGAAGAGGAGGCAGAAGAGGAAGAAGAAGAGGAAGAAGAGGA AGAGGAAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAG AAGAGGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	294	0.0034	546	c.677 others(561): Show c.677+292_677+293insTTCTTCTTCTTCTTCCTCTTCCTCTTCTTC CTCTTCCTCTTCCTCTTCTTCCTCTTCCTCTTCCTCTTCCTCTTCTTCCT CTTCCTCTTCTTCCTCTTCCTCTTCTTCCTCTTCTTCTTCCTCTTCTGCC TCCTCTTCCTCTTCTTCTTCCTCTTCCTCCTCCTCCTCCTCTTCTTCCTC CTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCC TCCTCTTCCTCCTCCTCTTCCTCCTCTTCTTCCTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTCTTCTCTTCTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTC	MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7			chr8	TogoVar
NCAPG2_chr7_158626169_158709804	158667329	G G	GCCCTCCT others(539): Show GCCCTCCTTACCCACTACTGGGTCCCTCCGCCCCCCCTTACCCACTACTG GGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTA CCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGC CCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGG TCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCCCCCTTACC CACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCC CTCCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGT CCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCAC TACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCC TTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCT CCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0328 a0001c0001t0001g0328	1	378	0.0027	546	c.148 others(565): Show c.1480-2580_1480-2579insTGGGTAAGGGAGGGCGGAGGGACCCA GTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCG GAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAA GGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTA GTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGG ACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGA GGGCGGAGGGACCCAGTAGTGGGTAAGGGGGGGCGGAGGGACCCAGTAGT GGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGG ACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGCGG GCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGG GTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGGGGGCGGAGGGAC CCAGTAGTGGGTAAGGAGGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NEXN_chr1_77883624_77948895	77887912	T T	TTTCTTCT others(539): Show TTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCCTCTTCCTCTTCCTCTTCC TCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	268	0.0037	546	c.-90 others(555): Show c.-900_-899insTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCCTCTTC CTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTC	NEXN	ENSG00000162614.19	transcript	ENST00000334785.12	protein_coding		711		chr1	TogoVar
NFILZ_chr19_8625633_8686151	8678099	A A	ATCCGTTC others(539): Show ATCCGTTCTTCCATCCACCCATTCATTAGTTTATCCATCCTCACCCATCC ACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCATCCACTTGT CCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCTTCCATCC ATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCTATCCATCCACCCTTCCATCCATTCATCCACTTGTCCATCCATCC ATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCAG CCGTCCATCTGTCCCGTCCGTCCGTCCATCCGTCCGTCCATCCATCCATC CATCCATCCATCCATCCATCCATCCATCCATCCATTCTTCCATCCATCCA TCCATTCAGCCATCCATCCATCCATCCATCCATTCCATCCATCCATCCGT CCATTCTTCCATCCATCCATTCATTAGTTTATCCATCCTCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCATTCATCCACTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01175.hp1 HG01975.hp2 HG03490.hp1 others(1): Show HG01175.hp1 HG01975.hp2 HG03490.hp1 HG03492.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0033 a0003c0003t0034 a0003c0003t0033 a0003c0003t0034	a0003c0003t0033g0026 a0003c0003t0033g0028 a0003c0003t0034g0209 others(1): Show a0003c0003t0033g0026 a0003c0003t0033g0028 a0003c0003t0034g0209 a0003c0003t0034g0276	4	366	0.0109	546	c.46 others(555): Show c.467_*468insGTTCTTCCATCCACCCATTCATTAGTTTATCCATCC TCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTC ATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCTTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCTATCCATCCACCCTTCCATCCATTCATCCACTTGT CCATCCATCCATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCT ATCCATCCAGCCGTCCATCTGTCCCGTCCGTCCGTCCATCCGTCCGTCCA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATTCTTC CATCCATCCATCCATTCAGCCATCCATCCATCCATCCATCCATTCCATCC ATCCATCCGTCCATTCTTCCATCCATCCATTCATTAGTTTATCCATCCTC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATTCAT CCACTTGTCC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	468	INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8678099	A A	ATCCGTTC others(539): Show ATCCGTTCTTCCATCCACCCATTCATTAGTTTATCCATCCTCACCCATCC ACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCATCCACTTGT CCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCTTCCATCC ATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCTATCCATCCACCCTTCCATCCATTCATCCACTTGTCCATCCATCC ATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCAG CCGTCCATCTGTCCCGTCCGTCCGTCCATCCGTCCGTCCATCCATCCATC CATCCATCCATCCATCCATCCATCCATCCATTCTTCCATCCATCCATCCA TTCAGCCATCCATCCATCCATCCATCCATTCCATCCATCCATCCGTCCAT TCTTCCATCCATCCATTCATTAGTTTATCCATCCTCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCATTCATCCACTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18956.hp2 NA19074.hp2 NA18956.hp2 NA19074.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0076 a0003c0003t0077 a0003c0003t0076 a0003c0003t0077	a0003c0003t0076g0356 a0003c0003t0077g0207 a0003c0003t0076g0356 a0003c0003t0077g0207	2	366	0.0055	546	c.46 others(555): Show c.467_*468insGTTCTTCCATCCACCCATTCATTAGTTTATCCATCC TCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTC ATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCTTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCTATCCATCCACCCTTCCATCCATTCATCCACTTGT CCATCCATCCATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCT ATCCATCCAGCCGTCCATCTGTCCCGTCCGTCCGTCCATCCGTCCGTCCA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATTCTTCCATC CATCCATCCATTCAGCCATCCATCCATCCATCCATCCATTCCATCCATCC ATCCGTCCATTCTTCCATCCATCCATTCATTAGTTTATCCATCCTCATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATTCAT CCACTTGTCC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	468	INFO_REALIGN_3_PRIME	chr19	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAC others(539): Show CTGTATACAGCATGTATACTGTATACAGCATGTATACTGTATGTATGTAT ACTGTATGTATGTATACTGTATGTATGTATACCGTATATATACACAGTAT GTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGT ATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTAT ACCGTATATATACACAGTATGTATACTGTGTATATATACACAGTATGTAT ACTGCATACAGTATGTATACTGTATACATACTGCATGCAGTATGTATACT GTATACATACTGCATGCAGTATGTATACTGTATATATACACTATACAGTA TGTATACTGTATATATACACTATACAGTATGTATACTGTATATATACACT ATACAGTATGTATACTGTATATATACACAATACAGTATGTATACTGTATA TATACACAATACAGTATGTATACTGTATATATACACAATACAGTATGTAT ACTGTATATATACACACAGTATGTATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0004 a0002c0008t0004	a0002c0008t0004g0073 a0002c0008t0004g0073	1	362	0.0028	546	c.-75 others(565): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTATTGTGTATATATACAGT ATACATACTGTATTGTGTATATATACAGTATACATACTGTATTGTGTATA TATACAGTATACATACTGTATAGTGTATATATACAGTATACATACTGTAT AGTGTATATATACAGTATACATACTGTATAGTGTATATATACAGTATACA TACTGCATGCAGTATGTATACAGTATACATACTGCATGCAGTATGTATAC AGTATACATACTGTATGCAGTATACATACTGTGTATATATACACAGTATA CATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACA TACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACATA CTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACATACA TACAGTATACATACATACAGTATACATACATACAGTATACATGCTGTATA CAGTATACATGCTGTATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NMT2_chr10_15100770_15173693	15149442	C C	CCACCATC others(539): Show CCACCATCACATCATCACCACCATCATCACCATTATCATCACTGTCATCA CCACTAACATCGCCACTACCATCGCCATCACCATCACTGCCACCATCATT ATCACCATCATCACCACCACCATCACTACCCCATTGTCGTCACCATCACC ATAATCACCACCACCACCACTGCCATCACCACCATCACCATTATCATCAC CACCATCACTACCCCATCATCGTCACCATCACCATAATCACCACCACCAC TGCCATCACCACCATCACCATCATCATCACCATCATTATCACCACCATCA TCACCATCATCACCACCATCATCACCACCATCATCATCATCACCACCATC ACCATCATCATCACCACCATCATCACCATCATTATCACCACCATGATCAC CATGATCACCACCATCATCACCATCATCATCACCATCATCACCACCATCA TCATCACCATCATCATCACCATCATCATCACCATCATCATCATCACCACC ATTACCATCATCATCACCACCATCATCATCACCATCATCACCACCAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01261.hp2 HG02027.hp1 others(3): Show HG00140.hp2 HG01261.hp2 HG02027.hp1 HG02615.hp1 HG03195.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0012 a0001c0002t0031 others(1): Show a0001c0001t0001 a0001c0001t0012 a0001c0002t0031 a0001c0002t0032	a0001c0001t0001g0134 a0001c0001t0012g0077 a0001c0001t0012g0078 others(3): Show a0001c0001t0001g0134 a0001c0001t0012g0077 a0001c0001t0012g0078 a0001c0001t0012g0079 a0001c0002t0031g0270 a0001c0002t0032g0101	6	276	0.0217	546	c.111 others(563): Show c.111-7886_111-7885insATGGTGGTGATGATGGTGATGATGATGG TGGTGATGATGATGGTAATGGTGGTGATGATGATGATGGTGATGATGATG GTGATGATGATGGTGATGATGATGGTGGTGATGATGGTGATGATGATGGT GATGATGGTGGTGATCATGGTGATCATGGTGGTGATAATGATGGTGATGA TGGTGGTGATGATGATGGTGATGGTGGTGATGATGATGATGGTGGTGATG ATGGTGGTGATGATGGTGATGATGGTGGTGATAATGATGGTGATGATGAT GGTGATGGTGGTGATGGCAGTGGTGGTGGTGATTATGGTGATGGTGACGA TGATGGGGTAGTGATGGTGGTGATGATAATGGTGATGGTGGTGATGGCAG TGGTGGTGGTGGTGATTATGGTGATGGTGACGACAATGGGGTAGTGATGG TGGTGGTGATGATGGTGATAATGATGGTGGCAGTGATGGTGATGGCGATG GTAGTGGCGATGTTAGTGGTGATGACAGTGATGATAATGGTGATGATGGT GGTGATGATGTGATGGTG	NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	1/11			chr10	TogoVar
NMT2_chr10_15100770_15173693	15149442	C C	CCACCATC others(539): Show CCACCATCACATCATCACCACCATCATCACCATTATCATCACTGTCATCA CCACTAACATCGCCACTACCATCGCCATCACCATCACTGCCACCATCATT ATCACCATCATCACCACCACCATCACTACCCCATTGTCGTCACCATCACC ATAATCACCACCACCACCACTGCCATCACCATCATCACCATTATCATCAC CACCATCACTACCCCATCATCGTCACCATCACCATAATCACCACCACCAC TGCCATCACCACCATCACCATCATCATCACCATCATTATCACCACCATCA TCACCATCATCACCACCATCATCACCACCATCATCATCATCACCACCATC ACCATCATCATCACCACCATCATCACCATCATTATCACCACCATGATCAC CATGATCACCACCATCATCACCATCATCATCACCATCATCACCACCATCA TCATCACCATCATCATCACCATCATCATCACCATCATCATCATCACCACC ATTACCATCATCATCACCACCATCATCATCACCATCATCACCACCAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02559.hp1 HG03130.hp1 others(1): Show HG01109.hp1 HG02559.hp1 HG03130.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0015 a0001c0002t0010 a0001c0002t0015	a0001c0002t0010g0126 a0001c0002t0015g0102 a0001c0002t0015g0123 others(1): Show a0001c0002t0010g0126 a0001c0002t0015g0102 a0001c0002t0015g0123 a0001c0002t0015g0124	4	276	0.0145	546	c.111 others(563): Show c.111-7886_111-7885insATGGTGGTGATGATGGTGATGATGATGG TGGTGATGATGATGGTAATGGTGGTGATGATGATGATGGTGATGATGATG GTGATGATGATGGTGATGATGATGGTGGTGATGATGGTGATGATGATGGT GATGATGGTGGTGATCATGGTGATCATGGTGGTGATAATGATGGTGATGA TGGTGGTGATGATGATGGTGATGGTGGTGATGATGATGATGGTGGTGATG ATGGTGGTGATGATGGTGATGATGGTGGTGATAATGATGGTGATGATGAT GGTGATGGTGGTGATGGCAGTGGTGGTGGTGATTATGGTGATGGTGACGA TGATGGGGTAGTGATGGTGGTGATGATAATGGTGATGATGGTGATGGCAG TGGTGGTGGTGGTGATTATGGTGATGGTGACGACAATGGGGTAGTGATGG TGGTGGTGATGATGGTGATAATGATGGTGGCAGTGATGGTGATGGCGATG GTAGTGGCGATGTTAGTGGTGATGACAGTGATGATAATGGTGATGATGGT GGTGATGATGTGATGGTG	NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	1/11			chr10	TogoVar
NPEPL1_chr20_58687800_58720844	58695018	T T	TGTTGCGT others(539): Show TGTTGCGTGTGTATGAGTGCTGGTGTGTGCATGAATGGTGTGTGTGGTGT GTTTATGTGTGGTGTGTGTTGCTGTGTGAGTGCTGGTGTGTGCATGAGTG GCGTGTGTGTGGTGTGTGTTGCTGTGTGTGTATGAGTGTTGGTGTGTGCA TGAGTGGTGTGTGTGTGCTGTGTGTATGTGTGGTGTGTGTTGCTGTGTAT GAGTGTTGGTGTGTGCATGAGTGGTGTGTGTGTGCTGTGTGTACGTGTGT GTGTTGCTGTGTGTGTGTTTGAGTGCTGGTGTGTGCATGAGTGGTGTGTG TGTGGTGTGTGTGGTGTCTGTTGCTGTGTGTGTTTGAGTTCTGGTATGTG CATGAGTGGTGTGTGTGTGTGTGTGTGGTGTGTTGCTGTGTGTGTATGAG TGCTGGTGTGTGCACGAGTGGTGTGTGTATTTGCGGTGTGTGTTGCTGTG TATATGTGAGTGCTGGTGTGTGCATGAGTGGCGTGTGTGGTGTGTATGTG TGGTGTGTGTTGCTGTTTGTGTTTGAGTGCTGATGTGTGCATGAGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00408.hp2 others(132): Show HG00099.hp2 HG00280.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01516.hp2 HG01928.hp2 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG01993.hp2 HG02056.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02523.hp2 HG02602.hp1 HG02735.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG03017.hp1 HG03139.hp1 HG03195.hp1 HG03239.hp2 HG03471.hp1 HG03491.hp1 HG03492.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03942.hp2 HG04115.hp1 HG04204.hp1 HG06807.hp1 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18944.hp1 NA18946.hp2 NA18949.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18966.hp2 NA18967.hp1 NA18971.hp2 NA18973.hp1 NA18977.hp2 NA18979.hp1 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18990.hp1 NA18992.hp2 NA18993.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19003.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19054.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19079.hp2 NA19081.hp2 NA19086.hp2 NA19087.hp2 NA19090.hp2 NA19091.hp2 NA20129.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0011 a0001c0012 others(2): Show a0001c0001 a0001c0011 a0001c0012 a0002c0008 a0003c0009	a0001c0001t0001 a0001c0001t0003 a0001c0011t0001 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0011t0001 a0001c0012t0001 a0002c0008t0004 a0002c0008t0008 a0003c0009t0003	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0013 others(70): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0274 a0001c0001t0003g0001 a0001c0011t0001g0001 a0001c0011t0001g0207 a0001c0012t0001g0220 a0002c0008t0004g0012 a0002c0008t0004g0201 a0002c0008t0004g0202 a0002c0008t0004g0203 a0002c0008t0004g0204 a0002c0008t0004g0205 a0002c0008t0004g0206 a0002c0008t0008g0012 a0003c0009t0003g0009	135	398	0.3392	546	c.507 others(561): Show c.507+428_507+429insTGCGTGTGTATGAGTGCTGGTGTGTGCATG AATGGTGTGTGTGGTGTGTTTATGTGTGGTGTGTGTTGCTGTGTGAGTGC TGGTGTGTGCATGAGTGGCGTGTGTGTGGTGTGTGTTGCTGTGTGTGTAT GAGTGTTGGTGTGTGCATGAGTGGTGTGTGTGTGCTGTGTGTATGTGTGG TGTGTGTTGCTGTGTATGAGTGTTGGTGTGTGCATGAGTGGTGTGTGTGT GCTGTGTGTACGTGTGTGTGTTGCTGTGTGTGTGTTTGAGTGCTGGTGTG TGCATGAGTGGTGTGTGTGTGGTGTGTGTGGTGTCTGTTGCTGTGTGTGT TTGAGTTCTGGTATGTGCATGAGTGGTGTGTGTGTGTGTGTGTGGTGTGT TGCTGTGTGTGTATGAGTGCTGGTGTGTGCACGAGTGGTGTGTGTATTTG CGGTGTGTGTTGCTGTGTATATGTGAGTGCTGGTGTGTGCATGAGTGGCG TGTGTGGTGTGTATGTGTGGTGTGTGTTGCTGTTTGTGTTTGAGTGCTGA TGTGTGCATGAGTGGT	NPEPL1	ENSG00000215440.12	transcript	ENST00000356091.11	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
NT5DC3_chr12_103767310_103846234	103768606	G G	GGAGGGAG others(539): Show GGAGGGAGGGGGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTAGGGG GGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGAGAGGGACAGGG ACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGAGAGGGAGAGGGGACAGG GAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGAGAG GGAGGGGAGGGGGAGAGGGGGGAGAGAGAGGGAGGGGGCGGGAGGGGAGG GAGGGGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGAGAGGGAGG GAGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGAGAGGGGAGGTG AGAGGGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGATGGGGGAGGGGG AGGGAGAGGGATGGGGGAGGAGAGAGGATGGGGGAGGGAGAGGGACAGGG GGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGAGAGAGAGGGAGAG GGAGAGAGAGGGAAAGGGAGTGAGGAGTGGAGAGAGGGATCGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0020 a0001c0003t0020	a0001c0003t0020g0175 a0001c0003t0020g0175	1	386	0.0026	546	c.92 others(557): Show c.9222_*9223insTCCCTCGATCCCTCTCTCCACTCCTCACTCCCTT TCCCTCTCTCTCCCTCTCCCTCTCTCTCCCTCTCCCTCCCCCTCTCCCTC TCCTTCTCCCTCCCCCTGTCCCTCTCCCTCCCCCATCCTCTCTCCTCCCC CATCCCTCTCCCTCCCCCTCCCCCATCTCTCTCCCTCCCCCCTCCCTCCC TCTCCCTCCCTCTCACCTCCCCTCTCCTCTCCCTCTCCCTCCCTCTCCCT CCCTCTCCCTCTCCCTCCCTCTCTCCCTCTCCCTCCCTCTCCCTGTCCCT CTCCCTCCCCCTCCCTCCCCTCCCGCCCCCTCCCTCTCTCTCCCCCCTCT CCCCCTCCCCTCCCTCTCCCCCTCCCCTCCCTCTCCCTCTCTCCCTCCCT CTCTCTCCCTCTCCCTGTCCCCTCTCCCTCTCCCTCTCCCTCCCTCTCTC TCCCTCTCCCTGTCCCTGTCCCTCTCCTCCCCCCTCCCCCTCCCTCTCTG TCCCCCCTCTCCCCCCCTACCCCTCCCTCTCCCTCCCTCCCTGTCCCCCC TCCCCCTCCCTC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3703		chr12	TogoVar
NTSR1_chr20_62703836_62767771	62755580	T T	TCCCTCCA others(539): Show TCCCTCCATCCATCCTCCCTCCCTCCATCATCCCTCCCTCCATCCCTCAT TCCATCCCTCCCTCCCTCCCTCCATCCCTCCCTTCATCTATCCTCCCTCC CTCCCTCCATCCCTCATTCCATCCCTCCCTCTCTCCCTCCCTCCATCCAT CCTCCCTCCCTCCATCACTCCCTCCCTCCATCCATCCTCCCTCCCTCCAT CCATCATCCCTCCCTCCCTCCATCCCTCATTCCATCCCTCCCTCCCTCCC TCCATCCCTCATTCCATCCCTCCCTCCCCTCCCTCCATCCCTGCCTTCAT CCATCCTCCCTCCCTCCATCATCCCTCCCTCCCTCCATCCCTCATTCCAT CCCTCCCTCCCTCCCTCCATCCCTCCCTTCATCTATCCTCCCTCCCTCCC TCCCTCCATCCCTCATTCCATCCCTCCCTCTCTCCCTCCCTCCATCCATC CTCCCTCCCTCCATCACTCCCTCCCTCCATCCATCCTCCCTCCCTCCATC CATCATCCCTCCCTCCCTCCATCCCTCATTCCATCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0214 a0001c0001t0035g0214	1	316	0.0032	546	c.916 others(561): Show c.916+696_916+697insCTCCATCCATCCTCCCTCCCTCCATCATCC CTCCCTCCATCCCTCATTCCATCCCTCCCTCCCTCCCTCCATCCCTCCCT TCATCTATCCTCCCTCCCTCCCTCCATCCCTCATTCCATCCCTCCCTCTC TCCCTCCCTCCATCCATCCTCCCTCCCTCCATCACTCCCTCCCTCCATCC ATCCTCCCTCCCTCCATCCATCATCCCTCCCTCCCTCCATCCCTCATTCC ATCCCTCCCTCCCTCCCTCCATCCCTCATTCCATCCCTCCCTCCCCTCCC TCCATCCCTGCCTTCATCCATCCTCCCTCCCTCCATCATCCCTCCCTCCC TCCATCCCTCATTCCATCCCTCCCTCCCTCCCTCCATCCCTCCCTTCATC TATCCTCCCTCCCTCCCTCCCTCCATCCCTCATTCCATCCCTCCCTCTCT CCCTCCCTCCATCCATCCTCCCTCCCTCCATCACTCCCTCCCTCCATCCA TCCTCCCTCCCTCCATCCATCATCCCTCCCTCCCTCCATCCCTCATTCCA TCCCTCCCTCCCTCCC	NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
ODF3_chr11_191761_205258	196113	C C	CTGGTGAG others(539): Show CTGGTGAGGAGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGG ACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACCTGGTGAGGG GACATAGGGGGGCCTTGGTGAGGGGACCTGGTGAGGGGACCTGGTGAGGG GACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGAACATGGGTGG GGAGCCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTG AGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGCGGACCTGGT GAGGGGACATGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGG GGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGA GGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTG AGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGG GGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGACCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	388	0.0026	546	c.-94 others(555): Show c.-942_-941insTGGTGAGGAGGACATGGGGGGGACCTTGGTGAGGGG ACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGG GACCTGGTGAGGGGACATAGGGGGGCCTTGGTGAGGGGACCTGGTGAGGG GACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGG GGAACATGGGTGGGGAGCCTTGGTGAGGGGACCTGGTGAGGGGACATGGG GGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGT GAGCGGACCTGGTGAGGGGACATGGGGACCTTGGTGAGGGGACCTGGTGA GGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGG GGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTG AGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGT GAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATG GGGGGGACCT	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		647		chr11	TogoVar
PIEZO1_chr16_88710338_88790220	88712911	G G	GCCCTGAG others(539): Show GCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAG AGCCCCCCTTCCCCAGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCC CTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCC GGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCT GACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCAC TCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACC CGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCGAGAGCCC CCCTTCCCCGGGCCCTGACCCCCACTCATGCCCGAGAGCCCCCCTTCCCC GGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGA CCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTC ATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp2 NA18612.hp1 NA18747.hp1 others(2): Show HG03492.hp2 NA18612.hp1 NA18747.hp1 NA18980.hp2 NA19064.hp2	a0001 a0002 a0034 a0001 a0002 a0034	a0001c0007 a0002c0003 a0034c0149 a0001c0007 a0002c0003 a0034c0149	a0001c0007t0022 a0002c0003t0001 a0034c0149t0001 a0001c0007t0022 a0002c0003t0001 a0034c0149t0001	a0001c0007t0022g0276 a0002c0003t0001g0045 a0002c0003t0001g0085 others(2): Show a0001c0007t0022g0276 a0002c0003t0001g0045 a0002c0003t0001g0085 a0002c0003t0001g0092 a0034c0149t0001g0150	5	282	0.0177	546	c.26 others(557): Show c.2693_*2694insGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGG CTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGG GTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTG GGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGCATGAGTGGGGGTCAGG GCCCGGGGAAGGGGGGCTCTCGGGCATGAGTGGGGGTCAGGGCCCGGGGA AGGGGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCT CTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGT ATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGGGTATGAGTG GGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGGGCATGAGTGGGGGTCA GGGCCCGGGGAAGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCTG GGGAAGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGG GGGCTCTCAGGG	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding		2426		chr16	TogoVar
PIEZO1_chr16_88710338_88790220	88731922	A A	AGAGGGCG others(539): Show AGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGAGAGGGCGGGGCATG GGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGTCT GGGGGGAGGGGGGGCGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTG TGGGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGT CTGGGGATGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGCGGGG TGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTGTGGGGATGCACTGA GTCTGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGCGG GGTGTGGGGATGCACTGAGTCTGGGGGAGGGCGGGGTGTGGGGATGCACT GAGTCTGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGATGGGC GGGGTGTGGGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCA CTGAGTCTGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGG	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA19066.hp1 NA18960.hp1 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0041 a0001c0002t0001g0052 a0001c0002t0001g0041 a0001c0002t0001g0052	2	282	0.0071	546	c.299 others(561): Show c.2992-13_2992-12insCCCCCAGACTCAGTGCATCCCCACACCCCG CCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCCATCCCCAGACTCA GTGCATCCCCACACCCCGCCCATCCCCAGACTCAGTGCATCCCCACACCC CCCCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCCAGACT CAGTGCATCCCCACACCCCGCCCTCCCCCAGACTCAGTGCATCCCCACAC CCCCCCCTCCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGA CTCAGTGCATCCCCACACCCCGCCCTCCCCCAGACTCAGTGCATCCCCAC ACCCCGCCCATCCCCAGACTCAGTGCATCCCCACACCCCGCCCATCCCCA GACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGACTCAGTGCATCCCC ACGCCCCCCCTCCCCCCAGACTCAGTGCATCCCCACACCCCGCCCATCCC CAGACTCAGTGCATCCCCATGCCCCGCCCTCTCCCCAGACTCAGTGCATC CCCACGCCCCGCCCTC	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	21/50			chr16	TogoVar
PIEZO1_chr16_88710338_88790220	88731922	A A	AGAGGGCG others(539): Show AGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGAGAGGGCGGGGCATG GGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGTCT GGGGGGAGGGGGGGCGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTG TGGGGATGCACTGAGTCTGGGGGAGGGCGGGGTGTGGGGATGCACTGAGT CTGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGG TGTGGGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGA GTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGCGG GGTGTGGGGATGCACTGAGTCTGGGGGGAGGGGGGGCGTGGGGATGCACT GAGTCTGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGGAGGGC GGGGCGTGGGGATGCACTGAGTCTGGGGGGAGGGCGGGGCGTGGGGATGC ACTGAGTCTGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0037 a0001c0002t0001g0037	1	282	0.0036	546	c.299 others(561): Show c.2992-13_2992-12insCCCCCAGACTCAGTGCATCCCCACACCCCC CCCTCCCCAGACTCAGTGCATCCCCACGCCCCGCCCTCCCCCCAGACTCA GTGCATCCCCACGCCCCGCCCTCCCCCCAGACTCAGTGCATCCCCACACC CCCCCCTCCCCAGACTCAGTGCATCCCCACGCCCCCCCTCCCCCCAGACT CAGTGCATCCCCACACCCCGCCCTCCCCCAGACTCAGTGCATCCCCACAC CCCGCCCATCCCCAGACTCAGTGCATCCCCACACCCCGCCCATCCCCAGA CTCAGTGCATCCCCACACCCCCCCCTCCCCCAGACTCAGTGCATCCCCAC ACCCCGCCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCCA GACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGACTCAGTGCATCCCC ACGCCCCCCCTCCCCCCAGACTCAGTGCATCCCCACACCCCGCCCATCCC CAGACTCAGTGCATCCCCATGCCCCGCCCTCTCCCCAGACTCAGTGCATC CCCACGCCCCGCCCTC	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	21/50			chr16	TogoVar
POLG_chr15_89311320_89339824	89325263	T T	TGAGAGAG others(539): Show TGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAGAGTG AGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAG TGAGTGAGTGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAG TGAGTGAGTGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAG TGAGAGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTG AGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAG TGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGTGAGTGAGTGAGTGAG AGTGAGTGAGTGAGTGAGAGTGAGTGAGTGAGAGTGAGTGAGTGAGAGAG TGAGAGAGTGAGTGAGAGAGTGAGTGAGAGTGAGTGAGTGAGTGAGAGAG TGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTG AGTGAGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0070 a0002c0002t0001g0070	1	398	0.0025	546	c.194 others(563): Show c.1949+186_1949+187insTCACTCACTCACTCACTCTCTCACTCAC TCTCTCACTCACTCTCACTCACTCACTCACTCACTCTCTCACTCACTCTC TCACTCACTCTCTCACTCACTCTCTCACTCACTCACTCACTCTCACTCAC TCTCTCACTCACTCTCTCACTCTCTCACTCACTCACTCTCACTCACTCAC TCTCACTCACTCACTCACTCTCACTCACTCACTCACTCTCACTCACTCTC TCACTCACTCACTCTCTCACTCACTCTCTCACTCACTCTCTCACTCACTC TCTCACTCACTCACTCTCTCACTCACTCACTCACTCACTCTCTCACTCAC TCACTCACTCACTCTCTCACTCACTCACTCTCTCACTCACTCTCTCACTC ACTCACTCTCACTCACTCACTCACTCTCTCACTCACTCTCTCACTCACTC ACTCACTCACACTCACTCACTCACTCTCTCACTCACTCACTCACTCTCTC ACTCACTCACTCTCTCACTCACTCTCTCACTCACTCACTCACTCACTCTC TCACTCACTCACTCTCTC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
PROZ_chr13_113153648_113177386	113161883	T T	TCCCCCCA others(539): Show TCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCCCA TCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTC CTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTGCTCAG GTCCTCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGT CCCTGCCACCTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCA CGTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCA CATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCC TCCTGCTCAGGTCCTCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTC AGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCC GTCCCTGCCACCTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGC CACCGCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCG	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18980.hp2 NA18983.hp1 HG02083.hp2 NA18980.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0239 a0001c0001t0002g0040 a0001c0001t0002g0239	3	378	0.0079	546	c.259 others(561): Show c.259+915_259+916insCCATCCTCCTCCTGCTCAGGTCCCCGTCCC TGCCACCTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGT CCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACAT CCTCCTCCTGCTCAGGTCCTCGTCCCTGCCACCTCCCCACATCCTCCTCC TGCTCAGGTCCCCGTCCCTGCCACCTCCCCCCATCCTCCTCCTGCTCAGG TCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTC CCTGCCACGTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCAC GTCCCCACATCCTCCTCCTGCTCAGGTCCTCGTCCCTGCCACCTCCCCAC ATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCT CCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCCCATCCTCCTCCTGCTCA GGTCCCCGTCCCTGCCACCGCCCCACATCCTCCTCCTGCTCAGGTCCCCG TCCCTGCCACCGCCCC	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
PROZ_chr13_113153648_113177386	113161930	C C	CCATCCTC others(539): Show CCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTC CTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTGCT CAGGTCCTCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCC CGTCCCTGCCACCTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTG CCACGTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCC CCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCC TCCTCCTGCTCAGGTCCTCGTCCCTGCCACCTCCCCACATCCTCCTCCTG CTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTC CCCGTCCCTGCCACCTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCC TGCCACCGCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCG CCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCA	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA18967.hp2 HG00597.hp1 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0240 a0001c0001t0002g0241	2	378	0.0053	546	c.259 others(561): Show c.259+993_259+994insGTCCCCACATCCTCCTCCTGCTCAGGTCCC CGTCCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGGTCCTCGTCCCTG CCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCC CCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCC TCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTG CTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGGTC CTCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCC TGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCT CCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCGCCCCACAT CCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCGCCCCACATCCTCCTCC TGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGG TCCCCGTCCCTGCCAC	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
PROZ_chr13_113153648_113177386	113161930	C C	CCATCCTC others(539): Show CCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTC CTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTGCT CAGGTCCTCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCC CGTCCCTGCCACGTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTG CCACGTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCC CCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCC TCCTCCTGCTCAGGTCCTCGTCCCTGCCACCTCCCCACATCCTCCTCCTG CTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTC CCCGTCCCTGCCACCTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCC TGCCACCGCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCG CCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0246 a0001c0001t0002g0246	1	378	0.0027	546	c.259 others(561): Show c.259+993_259+994insGTCCCCACATCCTCCTCCTGCTCAGGTCCC CGTCCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGGTCCTCGTCCCTG CCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCC CCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCC TCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTG CTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGGTC CTCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCC TGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCT CCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCGCCCCACAT CCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCGCCCCACATCCTCCTCC TGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGG TCCCCGTCCCTGCCAC	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
PTK2B_chr8_27320552_27464386	27438462	C C	CTGATTCT others(539): Show CTGATTCTATGGAAAGCCACATCAGGGGATAAAACCCTGCATTCATTCAT TCATTCATTCATTCATCCAACAAATACCATGGAACACCTCTCAGTGCCAG GCAGTGACCTAGGCTCTGGGACAAAGTCGTGACGAAAACAAGCAAAACTC CTTTTCCTCGTGAAGCTTACTTTCTAGCATGAGAGTCAAACTGGAGACAT CAATTGTCAGGACAAAGGTGGTGGGAGGATAGATTTGTTTCTTTTGTTTG TTTATTTGAAGTGGCCATGCTTTTAAGTCATCATTTCAACTATAAAAACA AACACTAGAGAGTGGAGCCTGCCTGTGAGAAGCAAGCAGGCAAACTAGTT TGGGGTTGGGAGTGATGGCAAGAACACAGGGTAAACTGAGTCAGCGGTGT GTCTCCTGGGAGGAATGAGAGCTCAGCTCTGGAGTAGCCTACCTGTGCGA CACCCTTTTCCACTGGTGAGCTGCTGGGCAAGTTCCTTCAGCTCTCTGGG TCCGGTCTCCTCCCCTGCACCAGGGGGGTCTGAGGGTCTCTATGTCA	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA18969.hp2 HG02486.hp1 NA18969.hp2	a0001 a0002 a0001 a0002	a0001c0010 a0002c0003 a0001c0010 a0002c0003	a0001c0010t0003 a0002c0003t0002 a0001c0010t0003 a0002c0003t0002	a0001c0010t0003g0231 a0002c0003t0002g0311 a0001c0010t0003g0231 a0002c0003t0002g0311	2	328	0.0061	546	c.164 others(563): Show c.1644-566_1644-565insTTCTATGGAAAGCCACATCAGGGGATAA AACCCTGCATTCATTCATTCATTCATTCATTCATCCAACAAATACCATGG AACACCTCTCAGTGCCAGGCAGTGACCTAGGCTCTGGGACAAAGTCGTGA CGAAAACAAGCAAAACTCCTTTTCCTCGTGAAGCTTACTTTCTAGCATGA GAGTCAAACTGGAGACATCAATTGTCAGGACAAAGGTGGTGGGAGGATAG ATTTGTTTCTTTTGTTTGTTTATTTGAAGTGGCCATGCTTTTAAGTCATC ATTTCAACTATAAAAACAAACACTAGAGAGTGGAGCCTGCCTGTGAGAAG CAAGCAGGCAAACTAGTTTGGGGTTGGGAGTGATGGCAAGAACACAGGGT AAACTGAGTCAGCGGTGTGTCTCCTGGGAGGAATGAGAGCTCAGCTCTGG AGTAGCCTACCTGTGCGACACCCTTTTCCACTGGTGAGCTGCTGGGCAAG TTCCTTCAGCTCTCTGGGTCCGGTCTCCTCCCCTGCACCAGGGGGGTCTG AGGGTCTCTATGTCATGA	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	18/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTTG1IP_chr21_44844598_44878690	44863291	G G	GCCACGGC others(539): Show GCCACGGCCTCAGCAGCAGACACACAGCCCACCACGGCCTCAGGAGCAGA GACACAGCCCACCACGGCCTCAGCAGCAGAGACACAGCCCACCACGGCCT CAGCAGCACAGAGACACACAGCCCGCCACGGCCTCAGCAGCAGAGACACA GCCCACCACGGCCTCAGCAGCACAGAGACACAGCCCACCACGGCCTCAGC AGCAGAGACACAGCCCACCACGGCCTCAGCAGCAGAGACACAGCCCACCA CGGCCTCAGCAGCAGAGACACAGCCCACCACGGCCTCAGCAGCAGAGACA CAGCCCACCACGGCCTCAGCAGCAGAGACACAGCCCACCACGGCCTCAGC AGCAGAGACACAGCCCACCACGGCCTCAGCAGCAGAGACACAGCCCACCA CGGCCTCAGCAGCAGAGACACAGCCCACCACGGCCTCAGCAGCAGAGACA CAGCCCACCACGGCCTCAGCAGCAGAGACACAGCCCACCACGGCCTCAGC AGCAGAGACACAGCCCACCACGGCCTCAGCAGCAGAGACACAGCCCA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0137 a0001c0001t0021g0137	1	444	0.0023	546	c.169 others(563): Show c.169-2021_169-2020insTGGGCTGTGTCTCTGCTGCTGAGGCCGT GGTGGGCTGTGTCTCTGCTGCTGAGGCCGTGGTGGGCTGTGTCTCTGCTG CTGAGGCCGTGGTGGGCTGTGTCTCTGCTGCTGAGGCCGTGGTGGGCTGT GTCTCTGCTGCTGAGGCCGTGGTGGGCTGTGTCTCTGCTGCTGAGGCCGT GGTGGGCTGTGTCTCTGCTGCTGAGGCCGTGGTGGGCTGTGTCTCTGCTG CTGAGGCCGTGGTGGGCTGTGTCTCTGCTGCTGAGGCCGTGGTGGGCTGT GTCTCTGCTGCTGAGGCCGTGGTGGGCTGTGTCTCTGCTGCTGAGGCCGT GGTGGGCTGTGTCTCTGCTGCTGAGGCCGTGGTGGGCTGTGTCTCTGTGC TGCTGAGGCCGTGGTGGGCTGTGTCTCTGCTGCTGAGGCCGTGGCGGGCT GTGTGTCTCTGTGCTGCTGAGGCCGTGGTGGGCTGTGTCTCTGCTGCTGA GGCCGTGGTGGGCTGTGTCTCTGCTCCTGAGGCCGTGGTGGGCTGTGTGT CTGCTGCTGAGGCCGTGG	PTTG1IP	ENSG00000183255.12	transcript	ENST00000330938.8	protein_coding	2/5			chr21	TogoVar
RAB11FIP3_chr16_420649_528011	458395	A A	AGGGGGCC others(539): Show AGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTC CTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAC CGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACA GGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGG GCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGG GTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATG CTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCC TGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTT CCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCA CCGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCAC AGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCTCACAGGGCCTG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp1 HG02055.hp2 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0030 a0001c0001t0012g0031 a0001c0001t0012g0030 a0001c0001t0012g0031	2	295	0.0068	546	c.715 others(563): Show c.715-2787_715-2786insCCACAGGGCCTGGGGGGCCTTCCTCGGG TTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGC TCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCT GGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTC CTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAC CGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACA GGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCTCACAGGGCCTGGGGG GCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGG GTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATG CCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCC TGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTT CCTCGGGTTCACCGATGC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	458395	A A	AGGGGGCC others(539): Show AGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTC CTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAC CGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACA GGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGG GCCTTCCTCGGGTTCACCGATGCTCACAGGGCCTGGGGGGCCTTCCTCGG GTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATG CTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCC TGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTT CCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCA CCGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCAC AGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03139.hp1 HG02818.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0032 a0001c0001t0010g0046 a0001c0001t0010g0032 a0001c0001t0010g0046	2	295	0.0068	546	c.715 others(563): Show c.715-2784_715-2783insCAGGGCCTGGGGGGCCTTCCTCGGGTTC ACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCTCA CAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGG GGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTC GGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGA TGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGG CCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCC TTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTT CACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCC ACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGG GGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCT CGGGTTCACCGATGCTCA	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	458395	A A	AGGGGGCC others(539): Show AGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTC CTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAC CGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACA GGGCCTGGGGGGCCTTCCTCAGATTCACTGATGCTCACAGGGCCTGGGGG GCCTTCCTCGGGTTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGG GTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATG CCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCTCACAGGGCC TGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTT CCTCAGATTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCA CTGATGCTCACAGGGCCTGGGGGGCCTTCCTCAGATTCACTGATGCCCAC AGGGCCTGGGGGGCCTTCCTCGGGTTCACTGATGCTCACAGGGCCTG	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA19012.hp2 NA18967.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0011 a0001c0001t0008 a0001c0001t0011	a0001c0001t0008g0068 a0001c0001t0011g0179 a0001c0001t0008g0068 a0001c0001t0011g0179	2	295	0.0068	546	c.715 others(563): Show c.715-2904_715-2903insTCACAGGGCCTGGGGGGCCTTCCTCGGG TTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCAGATTCACTGATGC TCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGATGCTCACAGGGCCT GGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTC CTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAC CGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACA GGGCCTGGGGGGCCTTCCTCAGATTCACTGATGCTCACAGGGCCTGGGGG GCCTTCCTCGGGTTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCAG ATTCACTGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGATG CTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCC TGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTT CCTCGGGTTCACCGATGC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	458423	C C	CCACAGGG others(539): Show CCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCT GGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTC CTCGGGTTCAGTGATGTTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAC CGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCTCACA GGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGCTCACAGGGCCTGGGGG GCCTTCCTCGGGTTCACCGATGCTCACAGGGCCTGGGGGGCCTTCCTCGG GTTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATG CTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGCTCACAGGGCC TGGGGGGCCTTCCTCAGATTCACTGATGCTCACAGGGCCTGGGGGGCCTT CCTCGGGTTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCAGATTCA CTGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGATGCT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0060 a0001c0001t0003g0060	1	295	0.0034	546	c.715 others(563): Show c.715-2872_715-2871insGTGATGTTCACAGGGCCTGGGGGGCCTT CCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCA CCGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGCTCAC AGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCTCACAGGGCCTGGGG GGCCTTCCTCGGGTTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCG GGTTCAGTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGAT GCTCACAGGGCCTGGGGGGCCTTCCTCAGATTCACTGATGCTCACAGGGC CTGGGGGGCCTTCCTCGGGTTCACTGATGCTCACAGGGCCTGGGGGGCCT TCCTCAGATTCACTGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTC ACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCA CAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGG GGGCCTTCCTCGGGTTCA	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	458567	G G	GTTCAGTG others(539): Show GTTCAGTGATGTTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATG CCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCTCACAGGGCC TGGGGGGCCTTCCTCGGGTTCACTGATGCTCACAGGGCCTGGGGGGCCTT CCTCGGGTTCAGTGATGCTCACAGGGCCTGGGGGGCCTTCCTCAGATTCA CTGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGATGCTCAC AGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGCTCACAGGGCCTGGGG GGCCTTCCTCAGATTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCG GGTTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCAGATTCACTGAT GCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGATGCTCACAGGGC CTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCT TCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCAGA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0051 a0001c0001t0004g0051	1	295	0.0034	546	c.715 others(563): Show c.715-2833_715-2832insGTGATGTTCACAGGGCCTGGGGGGCCTT CCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCA CCGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGATGCTCAC AGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGCTCACAGGGCCTGGGG GGCCTTCCTCAGATTCACTGATGCCCACAGGGCCTGGGGGGCCTTCCTCG GGTTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGAT GCTCACAGGGCCTGGGGGGCCTTCCTCAGATTCACTGATGCTCACAGGGC CTGGGGGGCCTTCCTCGGGTTCACTGATGCTCACAGGGCCTGGGGGGCCT TCCTCAGATTCACTGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTC ACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCA CAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGG GGGCCTTCCTCAGATTCA	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	458604	G G	GGGTTCAC others(539): Show GGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGA TGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGCTCACAGGG CCTGGGGGGCCTTCCTCGGGTTCACCGATGCTCACAGGGCCTGGGGGGCC TTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTT CACCGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCC ACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGG GGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCT CGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCG ATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGG GCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGC CTTCCTCGGGTTCACCGATGCTCACAGGGCCTGGGGGGCCTTCCTCA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0127 a0001c0001t0015g0127	1	295	0.0034	546	c.715 others(563): Show c.715-2787_715-2786insCCACAGGGCCTGGGGGGCCTTCCTCGGG TTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGC TCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCTCACAGGGCCT GGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTC CTCGGGTTCACCGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAC CGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACA GGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGG GCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGG GTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATG CCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCC TGGGGGGCCTTCCTCGGGTTCACCGATGCTCACAGGGCCTGGGGGGCCTT CCTCAGGTTCACCGATGC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	458604	G G	GGGTTCAC others(539): Show GGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGA TGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCTCACAGGG CCTGGGGGGCCTTCCTCGGGTTCACCGATGCTCACAGGGCCTGGGGGGCC TTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTT CACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCC ACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGG GGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCT CGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCG ATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGG GCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGC CTTCCTCGGGTTCACCGATGCTCACAGGGCCTGGGGGGCCTTCCTCA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG01891.hp2 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0024 a0001c0001t0015 a0001c0001t0024	a0001c0001t0015g0184 a0001c0001t0024g0185 a0001c0001t0015g0184 a0001c0001t0024g0185	2	295	0.0068	546	c.715 others(563): Show c.715-2787_715-2786insCCACAGGGCCTGGGGGGCCTTCCTCGGG TTCAGTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGC TCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCTCACAGGGCCT GGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTC CTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAC CGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACA GGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGG GCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGG GTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATG CCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCC TGGGGGGCCTTCCTCGGGTTCACCGATGCTCACAGGGCCTGGGGGGCCTT CCTCAGGTTCACCGATGC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAD51B_chr14_67814779_68483093	68356707	C C	CGCGGTGG others(539): Show CGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGC GGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAGGGTGAAACC CCGTCTCTACTAAATAAATACAAAAAAATTAGCCGGGTGCGGTGGCGGGC GCCTGTGGTCCCAGCTACTCCGGAGGCTGAGGCGGGAGAATGGCGTGAAC CCAGGAGGCGGAGCTTGCAGTGAGCCGAGGTTGTGTCACTGCACTCCAAC CTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGTTA TGTTTACACTCTACTCTATTAAAAGTGCAATAGTATTATATTTTTTAAAA ACAATATAGATTACCTAAATTTAAAATACTTAATTGCTAAAAAAAAAATG CTAGGGATCATCGGAGCCTTCAGTGAGTTATAATCTTGCTGGTGAAGGGT CTTGCCTTAGTGTTGAAGGTTGCTGACTGTTCAGGGGGTGGTTGCTGAAG GTTGGAGTGGCTGTAGCAATTTCTTAAAAAATGACAATAGGCCGGGT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03486.hp2 HG02886.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0080 a0001c0001t0001g0067 a0001c0001t0001g0080	2	84	0.0238	546	c.854 others(565): Show c.854-54673_854-54672insTGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACAGGGTGAAACCCCGTCTCTACTAAATAAATAC AAAAAAATTAGCCGGGTGCGGTGGCGGGCGCCTGTGGTCCCAGCTACTCC GGAGGCTGAGGCGGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGT GAGCCGAGGTTGTGTCACTGCACTCCAACCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAGTTATGTTTACACTCTACTCTATTA AAAGTGCAATAGTATTATATTTTTTAAAAACAATATAGATTACCTAAATT TAAAATACTTAATTGCTAAAAAAAAAATGCTAGGGATCATCGGAGCCTTC AGTGAGTTATAATCTTGCTGGTGAAGGGTCTTGCCTTAGTGTTGAAGGTT GCTGACTGTTCAGGGGGTGGTTGCTGAAGGTTGGAGTGGCTGTAGCAATT TCTTAAAAAATGACAATAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGG	RAD51B	ENSG00000182185.19	transcript	ENST00000471583.6	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
RAPGEF1_chr9_131571775_131745076	131587019	C C	CACACACA others(539): Show CACACACACACACACACACCCCTGCAGAGCGAGACTCCGTCTCAAACACA CACACACACACACACACCTGCAGAGCGAGACTCCGTCTCACACACACACC TGCAGAGCGAGACTCCGTCTCAAACACACACACACACACACACACACCTG CAGAGCCAGACTCCGTCTCAAACACACACACACACCTGCAGAGCGAGACT CCGTCTCAAACACACACACACACACACACACCTGCAGAGCGAGACTCCGT CTCAAACACACACACACACACACCTGCAGAGCGAGACTCCGTCAAACACA CACACACACACACACACACACCTGCAGAGCGAGACTCCGTCTCAAACACA CACACACACACCTGCAGAGCGAGACTCCGTCTCAAACACACACACACACA CACCTGCAGAGCGAGACTCCGTCTCAAACACACACACACACACACACCCC TGCAGAGCGAGACTCCGTCTCAAACACACACACACACACACCTGCAGAGC GAGACTCCGTCTCACACACACACCTGCAGAGCGAGACTCCGTCTCAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02922.hp2 HG02451.hp1 HG02922.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0012 a0002c0008t0012	a0002c0008t0012g0067 a0002c0008t0012g0068 a0002c0008t0012g0067 a0002c0008t0012g0068	2	368	0.0054	546	c.323 others(563): Show c.3233+716_3233+717insTTGAGACGGAGTCTCGCTCTGCAGGTGT GTGTGTGAGACGGAGTCTCGCTCTGCAGGTGTGTGTGTGTGTGTGTTTGA GACGGAGTCTCGCTCTGCAGGGGTGTGTGTGTGTGTGTGTGTTTGAGACG GAGTCTCGCTCTGCAGGTGTGTGTGTGTGTGTGTTTGAGACGGAGTCTCG CTCTGCAGGTGTGTGTGTGTGTGTTTGAGACGGAGTCTCGCTCTGCAGGT GTGTGTGTGTGTGTGTGTGTGTGTTTGACGGAGTCTCGCTCTGCAGGTGT GTGTGTGTGTGTGTTTGAGACGGAGTCTCGCTCTGCAGGTGTGTGTGTGT GTGTGTGTGTTTGAGACGGAGTCTCGCTCTGCAGGTGTGTGTGTGTGTTT GAGACGGAGTCTGGCTCTGCAGGTGTGTGTGTGTGTGTGTGTGTGTTTGA GACGGAGTCTCGCTCTGCAGGTGTGTGTGTGAGACGGAGTCTCGCTCTGC AGGTGTGTGTGTGTGTGTGTGTGTTTGAGACGGAGTCTCGCTCTGCAGGG GTGTGTGTGTGTGTGTGT	RAPGEF1	ENSG00000107263.19	transcript	ENST00000683357.1	protein_coding	22/26			chr9	TogoVar
RFX3_chr9_3213297_3531001	3504671	C C	CATATAAA others(539): Show CATATAAAATATATAGTATATGCCATATGGTATATATTGCATATAAAATA TATAGTATATGCCATATGGTATATATTGCATATAAAATATATAGTATATG CCATATGGTATATATTGCATATAAAATATATAGTATATGCCATATGGTAT ATATTGCATATAAAATATATAGTATATGCCATATGGTATATATTGCATAT AAAATATATAGTATATGCCATATGGTATATATTGCATATAAAATATATAG TATATGCCATATGGTATATATTGCATATAAAATATATAGTATATGCCATA TGGTATATATTGCATATAAAATATATAGTATATGCCATATGGTATATATT GTATATAAAATATATAGTATATGCCATATGGTATATATTGTATATAAAAT ATATAGTATATGCCATATGGTATATATTGTATATAAAATATATAGTATAT GCCATATGGTATATATTGTATATAAAATATATAGTATATGCTATATGGTA TATATTGTATATAAAATATATAGTATATGCTATATGGTATATATTGT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	196	0.0051	546	c.-9+ others(563): Show c.-9+21075_-9+21076insACAATATATACCATATAGCATATACTAT ATATTTTATATACAATATATACCATATAGCATATACTATATATTTTATAT ACAATATATACCATATGGCATATACTATATATTTTATATACAATATATAC CATATGGCATATACTATATATTTTATATACAATATATACCATATGGCATA TACTATATATTTTATATACAATATATACCATATGGCATATACTATATATT TTATATGCAATATATACCATATGGCATATACTATATATTTTATATGCAAT ATATACCATATGGCATATACTATATATTTTATATGCAATATATACCATAT GGCATATACTATATATTTTATATGCAATATATACCATATGGCATATACTA TATATTTTATATGCAATATATACCATATGGCATATACTATATATTTTATA TGCAATATATACCATATGGCATATACTATATATTTTATATGCAATATATA CCATATGGCATATACTATATATTTTATATGCAATATATACCATATGGCAT ATACTATATATTTTATAT	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RFX3_chr9_3213297_3531001	3504671	C C	CATATAAA others(539): Show CATATAAAATATATAGTATATGCCATATGGTATATATTGCATATAAAGTA TATAGTATATGCCATATGGTATATATTGCATATAAAATATATAGTATATG CCATATGGTATATATTGCATATAAAATATATAGTATATGCCATATGGTAT ATATTGCATATAAAATATATAGTATATGCCATATGGTATATATTGCATAT AAAATATATAGTATATGCCATATGGTATATATTGCATATAAAATATATAG TATATGCCATATGGTATATATTGTATATAAAATATATAGTATATGCCATA TGGTATATATTGTATATAAAATATATAGTATATGCCATATGGTATATATT GTATATAAAATATATAGTATATGCCATATGGTATATATTGTATATAAAAT ATATAGTATATGCCATATGGTATATATTGTATATAAAATATATAGTATAT GCCATATGGTATATATTGTATATAAAATATATAGTATATGCCATATGGTA TATATTGTATATAAAATATATAGTATATGCCATATGGTATATATTGT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0135 a0001c0003t0004g0135	1	196	0.0051	546	c.-9+ others(563): Show c.-9+21075_-9+21076insACAATATATACCATATGGCATATACTAT ATATTTTATATACAATATATACCATATGGCATATACTATATATTTTATAT ACAATATATACCATATGGCATATACTATATATTTTATATACAATATATAC CATATGGCATATACTATATATTTTATATACAATATATACCATATGGCATA TACTATATATTTTATATACAATATATACCATATGGCATATACTATATATT TTATATACAATATATACCATATGGCATATACTATATATTTTATATACAAT ATATACCATATGGCATATACTATATATTTTATATGCAATATATACCATAT GGCATATACTATATATTTTATATGCAATATATACCATATGGCATATACTA TATATTTTATATGCAATATATACCATATGGCATATACTATATATTTTATA TGCAATATATACCATATGGCATATACTATATATTTTATATGCAATATATA CCATATGGCATATACTATATACTTTATATGCAATATATACCATATGGCAT ATACTATATATTTTATAT	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RNF213_chr17_80255852_80403794	80274587	T T	TGGGGGGT others(539): Show TGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGA GTGAGTGGGGTGAGTGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGG GGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAG TGGGGTGAATGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGA TGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGCGGGGTGAGTGTGGGGGG TGAGTGGGGTGAGTGGGGAGTGAGTGGGGTGAGTGTGGGGTGATGGGGTG AGTGTGGGGGGTGAGGGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGG GTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGTGAGTGGGGTGAGTGG GGGGTGAGTGGGGTGTCTGGGGGGTGAGTGGGGTGAGTGGGGGGTGAGTG GGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGTGGGGTGAGTGGGGTGT CTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTG	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0084 a0084	a0084c0051 a0084c0051	a0084c0051t0013 a0084c0051t0013	a0084c0051t0013g0110 a0084c0051t0013g0110	1	292	0.0034	546	c.261 others(563): Show c.261+1222_261+1223insAGTGTGGGGAGTGAGTGGGGTGAGTGTG GGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGA GTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGTGAATGTGGGGTG AGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGATGGGGGTGAGTGGGGTGA GTGTGGGGGGTGAGCGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGG AGTGAGTGGGGTGAGTGTGGGGTGATGGGGTGAGTGTGGGGGGTGAGGGG GGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAG TGGGGTGAGTGTGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGTCT GGGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTG AGTGGGGTGAGTGTGTGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGG GTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGGGGTGAGTGGGGTGAGTG TGGGGGGTGAGTGGGGTG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80274587	T T	TGGGGGGT others(539): Show TGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGG GTGAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTGAGTGTGGGGTGAGTGG GGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAG TGTGGGGGGTGAGTGGGGTGAGTGGGGTGAATGTGGGGTGAGTGGGGTGA GTGTGGGGGGTGAGTGGGGTGATGGGGGTGAGTGGGGTGAGTGTGGGGGG TGAGCGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGAGTGAGTGGG GTGAGTGTGGGGTGATGGGGTGAGTGTGGGGGGTGAGGGGGGTGAGTGGG GTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGT GTGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGTCTGGGGGGTGAG TGGGGTGAGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGA GTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0003 a0002c0010t0003	a0002c0010t0003g0100 a0002c0010t0003g0100	1	292	0.0034	546	c.261 others(563): Show c.261+1222_261+1223insAGTGTGGGGGGTGAGTGGGGTGAGTGTG GGGAGTGAGTGGGGTGAGTGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGA GTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGG TGAGTGGGGTGAATGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGG GTGATGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGCGGGGTGAGTGTGG GGGGTGAGTGGGGTGAGTGGGGAGTGAGTGGGGTGAGTGTGGGGTGATGG GGTGAGTGTGGGGGGTGAGGGGGGTGAGTGGGGTGTCTGTGGGGGGTGAG TGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGTGAGTGGGGTGA GTGGGGGGTGAGTGGGGTGTCTGGGGGGTGAGTGGGGTGAGTGGGGGGTG AGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGG GTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGGGGTGAGTGGGGTGAGTG TGGGGGGTGAGTGGGGTG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPH3AL_chr17_207389_357807	356532	T T	CCACAGGC others(539): Show CCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGAC CGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACA CACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAG TCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACA GGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGC ACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACAC ACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCC TCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGA CCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCAC ACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACA GTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0093 a0001c0001t0016g0093	1	133	0.0075	546	c.-40 others(557): Show c.-4033_-4032insAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCC TGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGA CTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTG TGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCG GTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGG AGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTG TGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGG TGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGC CTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCG ACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGT GTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGC GGTCGCCTGTGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3725		chr17	TogoVar
RYK_chr3_134152133_134255859	134192441	C C	CAAAAAGT others(539): Show CAAAAAGTTTCAAACACTATTCACAATAGCAAAGACTTGGAACCAACCCA AATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACC ATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGG GACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAAC AAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATG AGATCACATGGACCCAGGAAGGGGAATATCACACTCTGGGGACTGTGGTG GGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAG ATGACACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACATATG TAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTCAAA ATACAAGGAAACTTAATATATTCTCAGAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 NA19084.hp1 HG00733.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0086 a0001c0001t0002g0046 a0001c0001t0002g0086	2	376	0.0053	546	c.890 others(561): Show c.890-468_890-467insTTTTTTTTTTTTTTTTTTTTCTGAGAATAT ATTAAGTTTCCTTGTATTTTGAATTCTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCAC ATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCACTGC ACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCT CCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTC CTGGGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATAT GCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTT CCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATG GCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTC TATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATA GTGTTTGAAACTTTTT	RYK	ENSG00000163785.14	transcript	ENST00000623711.4	protein_coding	7/14			chr3	TogoVar
RYK_chr3_134152133_134255859	134192441	C C	CAAAAAGT others(539): Show CAAAAAGTTTCAAACACTATTCACAATAGCAAAGACTTGGAACCAACCCA AATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACC ATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGG GACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAAC AAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATG AGATCACATGGACCCAGGAAGGGGAATATCACACTCTGGGGACTGTGGTG GGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAG ATGACACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACATATG TAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTCAAAA TACAAGGAAACTTAATATATTCTCAGAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	376	0.0027	546	c.890 others(561): Show c.890-468_890-467insTTTTTTTTTTTTTTTTTTTTTCTGAGAATA TATTAAGTTTCCTTGTATTTTGAATTCTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCAC ATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCACTGC ACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCT CCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTC CTGGGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATAT GCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTT CCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATG GCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTC TATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATA GTGTTTGAAACTTTTT	RYK	ENSG00000163785.14	transcript	ENST00000623711.4	protein_coding	7/14			chr3	TogoVar
S1PR4_chr19_3173769_3185332	3177895	C C	CTCGGGCT others(539): Show CTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTC TGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGT TTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTG CAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGG GCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGC CTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCC CTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACG CATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCT CTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAG TTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCT GCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	418	0.0024	546	c.-89 others(555): Show c.-898_-897insTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTC TCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCA GTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTC TGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTC GGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGG GCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTC CCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAA CGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCT CTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTC AGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTT CTGCAACGCA	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		873		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3177934	C C	CTCGGGCT others(539): Show CTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTC TGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGT TTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTG CAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGG GCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGC CTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCC CTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACG CCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCT CTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAG TTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCT GCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	418	0.0024	546	c.-85 others(555): Show c.-859_-858insTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTC TCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCA GTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTC TGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTC GGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGG GCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTC CCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAA CGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCT CTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTC AGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTT CTGCAACGCA	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		834		chr19	TogoVar
SATL1_chrX_85087284_85248779	85088046	G G	GTATTTAT others(539): Show GTATTTATACATATATGTATAAATACGTATTAATACATATATGTATAAAT ACGTATTAATACATATATGTATAAATACATACATATTTATACATATATGT ATACATACATATTTATACATATATATGTATACATACATACATATTTATAC ATATATATGTATAAATACATACATATTTATACATATATATGTATAAATAC ATACATATTTATACATATATATGTATAAATACGTACATATTTATACATAT ATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGTAC ATATTTATACATATATATGTATAAATACGTACATATTTATACATATATAT GTATAAATACGTACATATTTATACATATATATGTATAAATACGTACATAT TTATACATATATGTATAAATACATATACATATTTATACATATATGTATAA ATACATATACATATTTATACATATATGTATAAATACATATACATATATGT ATAAATACATATACATATTTATACATATATGTATAAATACATATACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0093 a0002c0002t0001g0093	1	232	0.0043	546	c.43 others(557): Show c.4344_*4345insTGTATATGTATTTATACATATATGTATAAATATG TATATGTATTTATACATATATGTATATGTATTTATACATATATGTATAAA TATGTATATGTATTTATACATATATGTATAAATATGTATATGTATTTATA CATATATGTATAAATATGTACGTATTTATACATATATATGTATAAATATG TACGTATTTATACATATATATGTATAAATATGTACGTATTTATACATATA TATGTATAAATATGTACGTATTTATACATATATATGTATAAATATGTACG TATTTATACATATATATGTATAAATATGTACGTATTTATACATATATATG TATAAATATGTATGTATTTATACATATATATGTATAAATATGTATGTATT TATACATATATATGTATAAATATGTATGTATGTATACATATATATGTATA AATATGTATGTATACATATATGTATAAATATGTATGTATTTATACATATA TGTATTAATACGTATTTATACATATATGTATTAATACGTATTTATACATA TATGTATAAATA	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding		4237		chrX	TogoVar

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Search Results (Total: 10000 hits)