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
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(505): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCT TCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTTC CTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCT CCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCC TTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCTTCCCCCTTCCTTCT TCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCC TCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCC CTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACC CCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTC CTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0047 a0002c0001t0002g0047	1	354	0.0028	512	c.69 others(523): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTC CCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCG TCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCC CTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCC TTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCC TTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCC CTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCA CCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTT CCCCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP61_chr20_20047532_20365698	20356115	C C	CTGAGGGG others(505): Show CTGAGGGGAAGTGGTCACACTGAGGGGGGGTGGTCACACTGAGGGGAAGT GGTCACACTGAGGGGGGGTGGTCACACTGAGGGGAGGTGGTCATACTGTG AGTGAGGAGCTAGTCACACTGAGGGGAGGGGTCATACTGCGAGTGGAGGT AGTCACACTGTGAAGGGTGGTAGTCACACTGAGAGGAGGTGGTCACACTG AGGGGAAGTGGTCACACTGAGGGGAAGTGGTCACACTGAGGGGGGGTGGT CACACTGAGAGGGGAGGTGGTCACACTGAGAGGAGGTGGTCACACTGAGG GGAAGTGGTCACACTGAGGGGGGGTGGTCACACTGAGGGGAGGTGGTCAT ACTGTGAGTGAGGAGCTAGTCACACTGAGGGGAGGGGTCATACTGCGAGT GGAGGTAGTCACACTGTGAAGGGTGGTAGTCACACTGAGAGGAGGTGGTC ACACTGAGGGGAAGTGGTCACACTGAGGGGAAGTGGTCACACTGAGGGGG GGTGGTCACACTG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0003 a0006c0011t0003	a0006c0011t0003g0089 a0006c0011t0003g0089	1	236	0.0042	512	c.351 others(531): Show c.3514-4087_3514-4086insAGTGGTCACACTGAGGGGGGGTGGTC ACACTGAGGGGAAGTGGTCACACTGAGGGGGGGTGGTCACACTGAGGGGA GGTGGTCATACTGTGAGTGAGGAGCTAGTCACACTGAGGGGAGGGGTCAT ACTGCGAGTGGAGGTAGTCACACTGTGAAGGGTGGTAGTCACACTGAGAG GAGGTGGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAAGTGGTCACA CTGAGGGGGGGTGGTCACACTGAGAGGGGAGGTGGTCACACTGAGAGGAG GTGGTCACACTGAGGGGAAGTGGTCACACTGAGGGGGGGTGGTCACACTG AGGGGAGGTGGTCATACTGTGAGTGAGGAGCTAGTCACACTGAGGGGAGG GGTCATACTGCGAGTGGAGGTAGTCACACTGTGAAGGGTGGTAGTCACAC TGAGAGGAGGTGGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAAGTG GTCACACTGAGGGGGGGTGGTCACACTGTGAGGGGA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL19A1_chr6_69861556_70217468	69920974	G G	GTATATTC others(505): Show GTATATTCATATATATATTCATATGTATATTCATATATATGATATATATC ATATATACATATGATATATACATGATATATATGATATATATGATATATAT GATATATATATGATATATATGATACATATGATATATATGATATATATATG ATACAAATGATATATATGATATATATGATATATATCAGATATATATATCA TATATATCATATATATCATTTGTATCATATATATATCATATATATCATAT GTATCATATATATCATGTATATATCATATATATCATATATATCATATATG TATTCATATATATCATATATATTCATATATCATATATATTCATATATATC ATATATTCATATATATCATATATATTCATATATATCATATATATTCATAT ATATATCATATATATTCATATATATATCATATATATTCATATATATATCA TATATATTCATATATATATCATATATATTCATATATATATCATATATATT CATATATATCATA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0096 a0001c0007t0005g0096	1	182	0.0055	512	c.267 others(529): Show c.267-6912_267-6911insGTATATTCATATATATGATATATATCAT ATATACATATGATATATACATGATATATATGATATATATGATATATATGA TATATATATGATATATATGATACATATGATATATATGATATATATATGAT ACAAATGATATATATGATATATATGATATATATCAGATATATATATCATA TATATCATATATATCATTTGTATCATATATATATCATATATATCATATGT ATCATATATATCATGTATATATCATATATATCATATATATCATATATGTA TTCATATATATCATATATATTCATATATCATATATATTCATATATATCAT ATATTCATATATATCATATATATTCATATATATCATATATATTCATATAT ATATCATATATATTCATATATATATCATATATATTCATATATATATCATA TATATTCATATATATATCATATATATTCATATATATATCATATATATTCA TATATATCATATATATTCATATATATATTCATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL5A1_chr9_134636803_134849843	134760325	C C	CACACCCA others(505): Show CACACCCACACACCCCCACACATACACACATGCACACACACCACACATGC ACACACACCACACATGCACACATACGCATACACACCCACACACCCACACT CATACACACATGCACACACACCACACATGCATACACACCCACGCACCCCC ACACTCATACACACATGCACACACACCACACATGCACACACGCATACACA CCCACACCCCCCCCACTCACACACACGCACACCCCCACACCCCCACACTC ATACACACATGCACACACACCACACAGGCACACACACACCCACGCACCCC CACACTCATACATGCACACACACGCATACACGCCCACACACCCCCATACT CATACACGCCCACACACCCCCACACTCACATGTGCACAGACACCACACAT GCACACACATACATGCACACACACATACACACCCACACCCCCACACTCAT ACACACATGCACACACCACACATGCGCGCACACGCATACACACCCACACA CCCCACACTGATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0065 a0001c0065	a0001c0065t0003 a0001c0065t0003	a0001c0065t0003g0009 a0001c0065t0003g0009	1	272	0.0037	512	c.193 others(531): Show c.1936-1600_1936-1599insACACCCACACACCCCCACACATACAC ACATGCACACACACCACACATGCACACACACCACACATGCACACATACGC ATACACACCCACACACCCACACTCATACACACATGCACACACACCACACA TGCATACACACCCACGCACCCCCACACTCATACACACATGCACACACACC ACACATGCACACACGCATACACACCCACACCCCCCCCACTCACACACACG CACACCCCCACACCCCCACACTCATACACACATGCACACACACCACACAG GCACACACACACCCACGCACCCCCACACTCATACATGCACACACACGCAT ACACGCCCACACACCCCCATACTCATACACGCCCACACACCCCCACACTC ACATGTGCACAGACACCACACATGCACACACATACATGCACACACACATA CACACCCACACCCCCACACTCATACACACATGCACACACCACACATGCGC GCACACGCATACACACCCACACACCCCACACTGATA	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	18/65			chr9	TogoVar
COMMD9_chr11_36267292_36294424	36287046	A A	ATATGTAT others(505): Show ATATGTATACTACATACTATGTATATCATATAGTATGTATACTACATACT ATGTATATCATATAGTATGTATACTACATACTATGTATATCATATAGTAT GTATACTACATACTATGTATATCATATAGTATGTATACTACATACTATGT ATATCATATAGTATGTATACTACATACTATGTATATCATATAGTATGTAT ACTACATACTATGTATATCATATAGTATGTATACTACATACTATGTATAT CATATAGTATGTATACTACATACTATGTATATCATATAGTATGTATACTA CATACTATGTATATCATATAGTATGTATACTACATACTATGTATATCATA TAGTATGTATACTACATACTATGTATATCATATAGTATGTATACTACATA CTATGTATATCATATAGTATGTATACTACATACTATGTATATCATATAGT ATGTATACTACATACTATGTATATCATATAGTATGTATACTACATACTAT GTATATCATATAG	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA19077.hp1 NA18986.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0043 a0001c0001t0003g0043	2	448	0.0045	512	c.51+ others(527): Show c.51+2315_51+2316insCTATATGATATACATAGTATGTAGTATACA TACTATATGATATACATAGTATGTAGTATACATACTATATGATATACATA GTATGTAGTATACATACTATATGATATACATAGTATGTAGTATACATACT ATATGATATACATAGTATGTAGTATACATACTATATGATATACATAGTAT GTAGTATACATACTATATGATATACATAGTATGTAGTATACATACTATAT GATATACATAGTATGTAGTATACATACTATATGATATACATAGTATGTAG TATACATACTATATGATATACATAGTATGTAGTATACATACTATATGATA TACATAGTATGTAGTATACATACTATATGATATACATAGTATGTAGTATA CATACTATATGATATACATAGTATGTAGTATACATACTATATGATATACA TAGTATGTAGTATACATACTATATGATATACATAGTATGTAGTATACATA CTATATGATATACATAGTATGTAGTATACATA	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COMMD9_chr11_36267292_36294424	36287056	T T	TACATACT others(505): Show TACATACTATGTATATCATATAGTATGTATACCACATACTATGTATATCA TATAGTATGTATACCACATACTATGTATATCATATAGTATGTATACCACA TACTATGTATATCATATAGTATGTATACCACATACTATGTATATCATATA GTATGTATACCACATACTATGTATATCATATAGTATGTATACCACATACT ATGTATATCATATAGTATGTATACCACATACTATGTATATCATATAGTAT GTATACCACATACTATGTATATCATATAGTATGTATACCACATACTATGT ATATCATATAGTATGTATACCACATACTATGTATATCATATAGTATGTAT ACCACATACTATGTATATCATATAGTATGTATACCACATACTATGTATAT CATATAGTATGTATACCACATACTATGTATATCATATAGTATGTATACCA CATACTATGTATATCATATAGTATGTATACCACATACTATGTATATCATA TAGTATGTATACC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02965.hp2 HG03453.hp1 others(1): Show HG02895.hp2 HG02965.hp2 HG03453.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0007 a0001c0004t0007 a0001c0001t0007 a0001c0004t0007	a0001c0001t0007g0040 a0001c0001t0007g0193 a0001c0004t0007g0194 a0001c0001t0007g0040 a0001c0001t0007g0193 a0001c0004t0007g0194	4	448	0.0089	512	c.51+ others(527): Show c.51+2305_51+2306insGGTATACATACTATATGATATACATAGTAT GTGGTATACATACTATATGATATACATAGTATGTGGTATACATACTATAT GATATACATAGTATGTGGTATACATACTATATGATATACATAGTATGTGG TATACATACTATATGATATACATAGTATGTGGTATACATACTATATGATA TACATAGTATGTGGTATACATACTATATGATATACATAGTATGTGGTATA CATACTATATGATATACATAGTATGTGGTATACATACTATATGATATACA TAGTATGTGGTATACATACTATATGATATACATAGTATGTGGTATACATA CTATATGATATACATAGTATGTGGTATACATACTATATGATATACATAGT ATGTGGTATACATACTATATGATATACATAGTATGTGGTATACATACTAT ATGATATACATAGTATGTGGTATACATACTATATGATATACATAGTATGT GGTATACATACTATATGATATACATAGTATGT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COMMD9_chr11_36267292_36294424	36287061	A A	ACTATGTA others(505): Show ACTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAG TATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTA TGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATG TATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTA CATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATA CTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATC ATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTAC ATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATAT AGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGC TATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTA TGTATACTACATG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0138 a0001c0001t0006g0138	1	448	0.0022	512	c.51+ others(527): Show c.51+2300_51+2301insCATGTAGTATACATACTATATGATGTACAT AGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATAC TATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCA TGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACTATA TGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTA GTATACATACTATATGATGTACATAGCATGTAGTATACATACTATATGAT GTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTAT ACATACTATATGATGTACATAGCATGTAGTATACATACTATATGATGTAC ATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACAT ACTATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAG CATGTAGTATACATACTATATGATGTACATAG	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COMMD9_chr11_36267292_36294424	36287093	A A	ACTATGTA others(505): Show ACTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAG TATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTA TGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATG TATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTA CATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATA CTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATC ATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTAC ATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATAT AGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGC TATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTA TGTATACTACATG	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	448	0.0022	512	c.51+ others(527): Show c.51+2268_51+2269insCATGTAGTATACATACTATATGATGTACAT AGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATAC TATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCA TGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACTATA TGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTA GTATACATACTATATGATGTACATAGCATGTAGTATACATACTATATGAT GTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTAT ACATACTATATGATGTACATAGCATGTAGTATACATACTATATGATGTAC ATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACAT ACTATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAG CATGTAGTATACATACTATATGATGTACATAG	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COMMD9_chr11_36267292_36294424	36287279	C C	CTACATAC others(505): Show CTACATACTATGTATATCATATAGTATGTATACTACATACTATGTATATC ATATAGTATGTATACTACATACTATGTATATCATATAGTATGTATACTAC ATACTATGTATATCATATAGTATGTATACTACATACTATGTATATCATAT AGTATGTATACTACATACTATGTATATCATATAGTATGTATACTACATAC TATGTATATCATATAGTATGTATACTACATACTATGTATATCATATAGTA TGTATACTACATACTATGTATATCATATAGTATGTATACTACATACTATG TATATCATATAGTATGTATACTACATACTATGTATATCATATAGTATGTA TACTACATACTATGTATATCATATAGTATGTATACTACATACTATGTATA TCATATAGTATGTATACTACATACTATGTATATCATATAGTATGTATACT ACATACTATGTATATCATATAGTATGTATACTACATACTATGTATATCAT ATAGTATGTATAG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0317 a0001c0001t0017g0317	1	448	0.0022	512	c.51+ others(527): Show c.51+2082_51+2083insCTATACATACTATATGATATACATAGTATG TAGTATACATACTATATGATATACATAGTATGTAGTATACATACTATATG ATATACATAGTATGTAGTATACATACTATATGATATACATAGTATGTAGT ATACATACTATATGATATACATAGTATGTAGTATACATACTATATGATAT ACATAGTATGTAGTATACATACTATATGATATACATAGTATGTAGTATAC ATACTATATGATATACATAGTATGTAGTATACATACTATATGATATACAT AGTATGTAGTATACATACTATATGATATACATAGTATGTAGTATACATAC TATATGATATACATAGTATGTAGTATACATACTATATGATATACATAGTA TGTAGTATACATACTATATGATATACATAGTATGTAGTATACATACTATA TGATATACATAGTATGTAGTATACATACTATATGATATACATAGTATGTA GTATACATACTATATGATATACATAGTATGTA	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
CRELD2_chr22_49913634_49932537	49926713	C C	CCCCACCC others(505): Show CCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCC CTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCC CCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCC CTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCC CCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCC CTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCC CCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCC CTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCC CCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCC CTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCC CCCCACCCCGGGT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	324	0.0031	512	c.101 others(529): Show c.1010-539_1010-538insACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCC CCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCC CCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCC CCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCC CCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCC CCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCC	CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRTC3_chr15_90524923_90650345	90647663	T T	TTCTCCTC others(505): Show TTCTCCTCCTCCACACCTGTCCTCCTCCACACTCATCCTCCTCACCGTTC CTCCACCACATCCCTCCTCCTCCACACCCCTCCTCACCCCTTGTCCTCCT CCAAACGCTTCTTCCTCCTGTTTCTTCCTCCACACCCCTCCTGCTCCACA TCCCTCCCCTCCATCCCCTCCACACCCCTCCCCCTCCTCACCCCGTCTCC TCCTCCACACCCCTCCTCCTCCATACCCCTCCTCCACCTCACACCTCCCC CTCACCCCTTCTCCTCCACCACACCCCTCCTCCTCCACACCCCTCCTCCG CCTCACACCTCCCTCACCCCTCCTCCTCCACACCTTGTCCTCCTCCACAC CCCTCCTCTGCCTCACCCCTCCTCCTCCTCCACACCCCTTGTCCTCCTCC ACACCCCTCCTCCGCCTCACCCCCCTCCTCACCCCTTCTCCTCTCCACAT CCCTCCTCCTCAACCCTCCTGCTCCACATCCCTCCCCTTCACACCCCTCC TCATCCTCACACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0030 a0003c0014t0030	a0003c0014t0030g0253 a0003c0014t0030g0253	1	276	0.0036	512	c.55 others(523): Show c.5523_*5524insTCTCCTCCTCCACACCTGTCCTCCTCCACACTCA TCCTCCTCACCGTTCCTCCACCACATCCCTCCTCCTCCACACCCCTCCTC ACCCCTTGTCCTCCTCCAAACGCTTCTTCCTCCTGTTTCTTCCTCCACAC CCCTCCTGCTCCACATCCCTCCCCTCCATCCCCTCCACACCCCTCCCCCT CCTCACCCCGTCTCCTCCTCCACACCCCTCCTCCTCCATACCCCTCCTCC ACCTCACACCTCCCCCTCACCCCTTCTCCTCCACCACACCCCTCCTCCTC CACACCCCTCCTCCGCCTCACACCTCCCTCACCCCTCCTCCTCCACACCT TGTCCTCCTCCACACCCCTCCTCTGCCTCACCCCTCCTCCTCCTCCACAC CCCTTGTCCTCCTCCACACCCCTCCTCCGCCTCACCCCCCTCCTCACCCC TTCTCCTCTCCACATCCCTCCTCCTCAACCCTCCTGCTCCACATCCCTCC CCTTCACACCCCTCCTCATCCTCACACC	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		2319		chr15	TogoVar
DCC_chr18_52335197_53540899	52465771	T T	TGAAAATG others(505): Show TGAAAATGTCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATG CTGGTGCGCTGCACCCACTAACGTGTCATCTAGCATTAGGTATATCTCCC AATGCTATCCCTCCCCACTCCCCCGACCCCACCACAGTCCCCAGAGTGTG ACATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTAT GAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGA GAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGACATGAACTCA TCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTT CTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTG CTATTGTGAATAGTGCCGCAATAAGCACATGTACCCTAAAACTTAGAGTA TAATAAAAAAAAAAAATTAAAAAAAAAAATAAAAATAAAAATAAAAAAAA AAAAAAAAAGAAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 NA20129.hp1 HG01433.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0004 a0002c0001t0001 a0001c0003t0004 a0002c0001t0001	a0001c0003t0004g0092 a0002c0001t0001g0093 a0001c0003t0004g0092 a0002c0001t0001g0093	2	114	0.0175	512	c.91+ others(531): Show c.91+124902_91+124903insACATTGTGCAGGTTAGTTACATATGT ATACATGTGCCATGCTGGTGCGCTGCACCCACTAACGTGTCATCTAGCAT TAGGTATATCTCCCAATGCTATCCCTCCCCACTCCCCCGACCCCACCACA GTCCCCAGAGTGTGACATTCCCCTTCCTGTGTCCATGTGATCTCATTGTT CAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTG CGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAA AGGACATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTAT ATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTG GTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAGCACATGTACCC TAAAACTTAGAGTATAATAAAAAAAAAAAATTAAAAAAAAAAATAAAAAT AAAAATAAAAAAAAAAAAAAAAAGAAAGAAAATGTC	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DIP2C_chr10_269201_694668	478356	G G	GAAGAGGG others(505): Show GAAGAGGGGAGGGGAGAAGAGGGGAGGGGAGAAGAGGGGAGGGGAGAAGA GGGGAGGGGAGAAGAGGGGAGGGGAGAAGAGGGGAGGGGAGGGGAGAAGA GGGGAGGGGAGGGGAGAAAAGGGGAGGGGAGAAAAGGGGAGGGGAGAAAA GGGGAGGGGAGAAAAGGGGAGGGGAGAAAAGGGGAGGGGAGGGGAGGGGA GGGGAGAAGAGGGGAGGGGAGAGAAGGGAGGGGAGGGGAGAAGAAGGGAG GGGAGGGGAGAAGAAGGGAGGGGAGGGGGAGGGCGGGAGCAGGGAGGGAG GAGGGGAGAAGAAGGGAGGAGAGGGGGAGTGGATCGGGTGGCTGCTGGGT GTGCGGGAGGGGAGGGAGAAGAGGGAGGGAGGGGAGAAGAGGGGAGGGGA GGGGAGGGAGAGGGGAGGGGGAGAAGAAGGGAGGGGAGGGGAGGGAGGAG GAGGGGAGAAGAGGGAGGGGAGGGAGAGAGGGAGAGGGGAGGGGAGGAGA GGGAGGGAGGGGA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0084 a0001c0004t0001g0084	1	88	0.0114	512	c.158 others(529): Show c.158-5808_158-5807insTCCCCTCCCTCCCTCTCCTCCCCTCCCC TCTCCCTCTCTCCCTCCCCTCCCTCTTCTCCCCTCCTCCTCCCTCCCCTC CCCTCCCTTCTTCTCCCCCTCCCCTCTCCCTCCCCTCCCCTCCCCTCTTC TCCCCTCCCTCCCTCTTCTCCCTCCCCTCCCGCACACCCAGCAGCCACCC GATCCACTCCCCCTCTCCTCCCTTCTTCTCCCCTCCTCCCTCCCTGCTCC CGCCCTCCCCCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCTTCTTCTCCC CTCCCCTCCCTTCTCTCCCCTCCCCTCTTCTCCCCTCCCCTCCCCTCCCC TCCCCTTTTCTCCCCTCCCCTTTTCTCCCCTCCCCTTTTCTCCCCTCCCC TTTTCTCCCCTCCCCTTTTCTCCCCTCCCCTCCCCTCTTCTCCCCTCCCC TCCCCTCTTCTCCCCTCCCCTCTTCTCCCCTCCCCTCTTCTCCCCTCCCC TCTTCTCCCCTCCCCTCTTCTCCCCTCCCCTCTT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DNAH14_chr1_224924675_225404286	225335813	A A	ACATATGT others(505): Show ACATATGTACACACGTGTGCATGCACATATGTACACACGTGTGCATGCAC ATATGTACACACGTGTGCATGCACATATGTACACACGTGTGCATGCACAT ATGTACACACGTGTGCATGCACATATGTACACACGTGTGCATGCACATAT GTACACACGTGTGCATGCACATATGTACACACGTGTGCATGCACATATGT ACACACGTGTGCATGCACATATGTACACACGTGTGCATGCACATATGTAC ACACGTGTGCATGCACATATGTACACACGTGTGCATGCACATATGTACAC ACGTGTGCATGCACATATGTACACACGTGTGCATGCACATATGTACACAC GTGTGCATGCACATATGTACACACGTGTGCATGCACATATGTACACACGT GTACATGCACATGTACACACGTGTACATACACACATGTACACACGTGTAC ATACACACATGTACACACGTGTACATACACATGTACACACGTGTACATAC ACATGTACACACG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0104 a0104	a0104c0039 a0104c0039	a0104c0039t0001 a0104c0039t0001	a0104c0039t0001g0103 a0104c0039t0001g0103	1	240	0.0042	512	c.100 others(533): Show c.10081-1453_10081-1452insCATATGTACACACGTGTGCATGCA CATATGTACACACGTGTGCATGCACATATGTACACACGTGTGCATGCACA TATGTACACACGTGTGCATGCACATATGTACACACGTGTGCATGCACATA TGTACACACGTGTGCATGCACATATGTACACACGTGTGCATGCACATATG TACACACGTGTGCATGCACATATGTACACACGTGTGCATGCACATATGTA CACACGTGTGCATGCACATATGTACACACGTGTGCATGCACATATGTACA CACGTGTGCATGCACATATGTACACACGTGTGCATGCACATATGTACACA CGTGTGCATGCACATATGTACACACGTGTGCATGCACATATGTACACACG TGTGCATGCACATATGTACACACGTGTACATGCACATGTACACACGTGTA CATACACACATGTACACACGTGTACATACACACATGTACACACGTGTACA TACACATGTACACACGTGTACATACACATGTACACACG	DNAH14	ENSG00000185842.16	transcript	ENST00000682510.1	protein_coding	66/85			chr1	TogoVar
DPEP1_chr16_89608642_89643433	89618964	C C	CTCCCTGC others(505): Show CTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCC CTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCC CCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAG CTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCC CTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCCTGCC CCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGC AGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTC CCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGC CCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGC AGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCT CCCCTCCCTGCAG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02647.hp1 HG02257.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0094 a0001c0001t0001g0095	2	250	0.0080	512	c.-10 others(531): Show c.-107+5245_-107+5246insTCCCTGCCCCCCTGCTCCCCTCCCTG CAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCT CCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTG CCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTG CAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCT CCCCTCCCTGCAGCCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCT GCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCC TGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCG CTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCC ATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCC TGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAG	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10			chr16	TogoVar
DPEP1_chr16_89608642_89643433	89618964	C C	CTCCCTGC others(505): Show CTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCC CTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCC CCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAG CTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCC CTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCC CCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAG CCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCC CTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCC CCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCA GCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCCTGCCCCCCCTGCT CCCCTCCCTGCAG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	250	0.0040	512	c.-10 others(531): Show c.-107+5245_-107+5246insTCCCTGCCCCCCTGCTCCCCTCCCTG CAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCT CCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTG CCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTG CAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCT CCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTG CCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTG CAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCT CCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCT GCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCT GCAGCCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAG	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10			chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619246	C C	CCCCCCCT others(505): Show CCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCTCCCT GCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTG CTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCT GCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCC TGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCTCCCCCGC TCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCC TGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCTCCCCCGCTCCCCTCCC TGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCC GCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCC CTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCC CTGCAGCTCCATG	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	250	0.0040	512	c.-10 others(531): Show c.-107+5533_-107+5534insTGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCTGCTCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCA GCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCC CCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCA GCCCCCTGCTCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTC CCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGC TCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTG CAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCT CCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTG CCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
EIF3B_chr7_2349827_2385745	2377531	A A	AGGAGGAA others(505): Show AGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGC TGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAA GGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGG GTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCT GTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTG GGAATCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGG CGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATG GAGGAAGGAGCAGGCGCGAGCACTCCTGGGAATCCGTGTTCTGTGAATGA CCCTGGGTGTCAT	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0319 a0001c0003t0001g0319	1	384	0.0026	512	c.215 others(529): Show c.2154+472_2154+473insGCGAGCGCTCCTGGGATGCTGTGTTCTG TGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGG GATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGC GCGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCAAGG AGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGAC CCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGT GTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGC TCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGA GCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTG TCATGGAGGAAGGAGCAGGCGCGAGCACTCCTGGGAATCCGTGTTCTGTG AATGACCCTGGGTGTCATGGAGGAAGGAGCAGGC	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2377567	T T	TGTGTTCT others(505): Show TGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGG GTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCT GTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTG GGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGG CGCGAGCGCTCCTGGGAAGCCGTGTTCTGTGAATGACCCTGGGTGTCAAG GAGGAAGGAGCAGGCGTGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGA CCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTG TGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCT CTCCTGGGAATCC	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA19070.hp1 NA18954.hp1 NA19070.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0017 a0001c0003t0001g0017	2	384	0.0052	512	c.215 others(529): Show c.2154+583_2154+584insTGGAGGAAGGAGCAGGCGCGAGCTCTTC TGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCA GGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCA TGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGC CGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGTGAG CTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAA GGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGG GTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCT GTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTG GGAATCCGTGTTCTGTGAATGACCCTGGGTGTCA	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2377618	T T	TCTCCTGG others(505): Show TCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAG GAGCAGGCGCGAGCGCTCCTGGGAAGCCGTGTTCTGTGAATGACCCTGGG TGTCAAGGAGGAAGGAGCAGGCGCGAGCTCTTCTGGGAATCCGTGTTCTG TGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGG GATGCTGTGTTGTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGC GCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGG AGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGAC CCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGT GTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGC TCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGA GCAGGCGCGAGCG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0072 a0001c0001t0003g0072	1	384	0.0026	512	c.215 others(529): Show c.2154+583_2154+584insTGGAGGAAGGAGCAGGCGCGAGCGCTCC TGGGAAGCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCA GGCGCGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCA AGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTGTGTGAAT GACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATC CGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGG GTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCT GTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTG GGAATCCGTGTTCTGTGAATGACCCTGGGTGTCA	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2377621	C C	CCTGGGAA others(505): Show CCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAG CAGGCGCGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGT CATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGA ATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAA TCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCG AGCTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGG AAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCT GGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTT CTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCC TGGGAAGCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCA GGCGTGAGCTCTT	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0325 a0001c0003t0001g0325	1	384	0.0026	512	c.215 others(529): Show c.2154+583_2154+584insTGGAGGAAGGAGCAGGCGCGAGCTCTTC TGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCA GGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCA TGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTTCTGGGAATC CGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGG GTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTGTTCT GTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGTGAGCTCTTCTG GGAATCCGTGTTCTGTGAATGACCCTGGGTGTCA	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2377723	T T	TGGAGGAA others(505): Show TGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGC CGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGG GTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCT GTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTG GGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGG CGCGAGCGCTCCTGGGAAGCCGTGTTCTGTGAATGACCCTGGGTGTCAAG GAGGAAGGAGCAGGCGTGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGA CCCTGGGTGTCAA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	384	0.0026	512	c.215 others(529): Show c.2154+670_2154+671insTCTCCTGGGAATCCGTGTTCTGTGAATG ACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGCC GTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGC TCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAG GAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGG TGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTG TGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGG GAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGC GCGAGCGCTCCTGGGAAGCCGTGTTCTGTGAATGACCCTGGGTGTCAAGG AGGAAGGAGCAGGCGTGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGAC CCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGC	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2378012	T T	TGTGTTCT others(505): Show TGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGG GTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCT GTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTG GGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGG CGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATG GAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGA CCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTG TGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCG CTCCTGGGAATCC	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0089 a0003c0004t0001g0089	1	384	0.0026	512	c.215 others(529): Show c.2155-633_2155-632insGCGAGCTCTCCTGGGAATCCGTGTTCTG TGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGG GAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGC GCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGG AGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGAC CCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGT GTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGC TCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGA GCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTG TCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTG AATGACCCTGGGTGTCATGGAGGAAGGAGCAGGC	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
FAM240C_chr2_241888988_241905464	241896810	T T	TGTTGGGG others(505): Show TGTTGGGGTGTGGGTGTGGGGGTGTGGGTGAAGGGGTGTGGGTGTTGGGG TGTGGGTGTGGGGGTGTGGGTGTGGGGGTGTGGGTGTTGGGGTGTGGGTG AAGGGGTGTGGGTGTTGGGGTGTGGGTGAAGGGGTGTGTGTGTTGGGGTG TGGGTGAAGGGGTGTGGGTGTGGGGGTGTGGGTGTTGGGGTGTGGGTGTT GGGGTGTGGGTGTTGGGGTGTGGGTGTGGGGGGTGTGGGTGTTGGGGTGT GGGTGTTGGGGTGTGGGTGTTGGGGTGTGGGTGTTGGGGTGTGGGTGAAG GGGTGTGTGTGTTGGGGTGTGGGTGAAGGGGTGTGGGTGAAGGGGTGTGG GTGTTGGGGTGTGGGTGTTGGGGTGTGGGTGTTGGGGTGTGGGTGTTGGG GTGTGGGTGTGGGGGTGTGGGTGTGGGGGTGTGGGTGTTGGGGTGTGGGT GAAGGGGTGTGTGTGTTGGGGTGTGGGTGAAGGGGTGTGGGGTGTGGGGG TGTGGGTGTTGGG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	37	0.0270	512	c.161 others(527): Show c.161+375_161+376insCCCAACACCCACACCCCCACACCCCACACC CCTTCACCCACACCCCAACACACACACCCCTTCACCCACACCCCAACACC CACACCCCCACACCCACACCCCCACACCCACACCCCAACACCCACACCCC AACACCCACACCCCAACACCCACACCCCAACACCCACACCCCTTCACCCA CACCCCTTCACCCACACCCCAACACACACACCCCTTCACCCACACCCCAA CACCCACACCCCAACACCCACACCCCAACACCCACACCCCAACACCCACA CCCCCCACACCCACACCCCAACACCCACACCCCAACACCCACACCCCAAC ACCCACACCCCCACACCCACACCCCTTCACCCACACCCCAACACACACAC CCCTTCACCCACACCCCAACACCCACACCCCTTCACCCACACCCCAACAC CCACACCCCCACACCCACACCCCCACACCCACACCCCAACACCCACACCC CTTCACCCACACCCCCACACCCACACCCCAAC	FAM240C	ENSG00000216921.9	transcript	ENST00000404031.6	protein_coding	2/2			chr2	TogoVar
FHIT_chr3_59742277_61256452	60861204	T T	TATATATG others(505): Show TATATATGATATATATCATATATGATATATATGATATATATCATATATGA TATATATGATATATATCATATATGATATATATGATATATATCATATATGA TATATATGATATATATCATATATGATATATATCATATATGATATATATGA TATATATCATATATATCATATATATCATATCATATATGATATATATGATA TATATCATATATATCATATCATATATGATATATATGATATATATCATATA TATCATATCATATATGATATATATGATATATATCATATATATCATATCAT ATATGATATATATGATATATATCATATATATCATATATATCATATCATAT ATGATATATATGATATATATGATATATCATATCATATAATATATGATATA TATGATATATATGATATATCATATATATAATATATGATATATATGATATA TATGATATATCATATCATATAATATATGATATATATGATATATATGATAT ATCATATCATATA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0017 a0001c0001t0014g0017	1	46	0.0217	512	c.-11 others(533): Show c.-110-39194_-110-39193insTATATGATATGATATATCATATAT ATCATATATATCATATATTATATGATATGATATATCATATATATCATATA TATCATATATTATATATATGATATATCATATATATCATATATATCATATA TTATATGATATGATATATCATATATATCATATATATCATATATGATATGA TATATATGATATATATGATATATATCATATATATCATATATGATATGATA TATATGATATATATCATATATATCATATATGATATGATATATATGATATA TATCATATATATCATATATGATATGATATATATGATATATATCATATATA TCATATATGATATGATATATATGATATATATGATATATATCATATATATC ATATATGATATATATCATATATGATATATATCATATATATCATATATGAT ATATATCATATATATCATATATGATATATATCATATATATCATATATGAT ATATATCATATATATCATATATGATATATATCATATAT	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	3/9			chr3	TogoVar
GAS6_chr13_113815549_113869076	113824415	C C	CGCGCGGT others(505): Show CGCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACGCGCGGTCTGGGGTCTG AGCTGTCGGGAGCACGCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACGCG CGGTCTGGGGTCTGAGCTGTCGGGAGCACGCGCGGTCTGGGGTCTGAGCT GTCGGGAGCACGCGAGGTCTGGGGTCTGAGCTGTCGGGAGCACCCGCGGT CTGGGGTCTGAGCTGTCGGGAGCACGCGAGGTCTGGGGTCTGAGCTGTCG GGAGCACCCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACCCGCGGTCTGG GGTCTGAGCTGTCGGGAGCACCCGCGGTCTGGGGTCTGAGCTGTCGGGAG CACCCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACCTATGGTCTGGGGTC TGAGCTGTCGGGAGCACGCGCAGTCTGGGGTCTGAGCTGTCGGGAGCACG CGGGGTCTGGGGTCTGAGCTGTCGGGAGCACCTGCGGTCTGGGGTCTGAG CTGTCGGGAGCAT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0037 a0001c0003t0001g0037	1	143	0.0070	512	c.147 others(529): Show c.1478-866_1478-865insATGCTCCCGACAGCTCAGACCCCAGACC GCAGGTGCTCCCGACAGCTCAGACCCCAGACCCCGCGTGCTCCCGACAGC TCAGACCCCAGACTGCGCGTGCTCCCGACAGCTCAGACCCCAGACCATAG GTGCTCCCGACAGCTCAGACCCCAGACCGCGGGTGCTCCCGACAGCTCAG ACCCCAGACCGCGGGTGCTCCCGACAGCTCAGACCCCAGACCGCGGGTGC TCCCGACAGCTCAGACCCCAGACCGCGGGTGCTCCCGACAGCTCAGACCC CAGACCTCGCGTGCTCCCGACAGCTCAGACCCCAGACCGCGGGTGCTCCC GACAGCTCAGACCCCAGACCTCGCGTGCTCCCGACAGCTCAGACCCCAGA CCGCGCGTGCTCCCGACAGCTCAGACCCCAGACCGCGCGTGCTCCCGACA GCTCAGACCCCAGACCGCGCGTGCTCCCGACAGCTCAGACCCCAGACCGC GCGTGCTCCCGACAGCTCAGACCCCAGACCGCGC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	12/14			chr13	TogoVar
GLT6D1_chr9_135618648_135644540	135620157	T T	TCTACTCC others(505): Show TCTACTCCCCCTTCTCCCCCTACTCCTTCTCCCCCTTCTCCCCCTTCCCC CTCTACTCCCCCTTCTCCCCCTACTCCCCCGTCTCCCCCGTCTCCCCCTT CTCCCCCTTTTCCCCCTACTCCCCCTTCTCCCCCATCTCCCCCGTCTCTC CCGTCTCCCCCATCTCCCCCTTCTCACCCTTCTCCCCCTACTCCCTCTTC TCCCCCGTCTCCCCCGTCTGCCCAGTCTCCCCCTTCTCCCCCTTCTCCCC CTTCTCCCCAATCTCCCCCGTCTCCCCCTTCTCCCCCTACTCCCCTTCTC CCCTTCTCCCCCTTCTCCCCCATCTGCCCAGTATCCCCTTCTCCCCCTTC TTCCCCTACTCCCCCTACTCCCCCATCTCCCTCTTCTCCCCTATCTCCCC CTTCTCCCCCTACTCCCCCTTCTCCCCCGTCTCCCCTGTCTGCCCAGTCT CCCCCATCTCCCCCTACTCCCCCTTCTCCCCCTACTCCTTCTCCCCTTCT CCCCCTTCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0122 a0002c0003t0001g0122	1	436	0.0023	512	c.39 others(523): Show c.3939_*3940insGGGGGGAAGGGGGAGAAGGGGAGAAGGAGTAGGG GGAGAAGGGGGAGTAGGGGGAGATGGGGGAGACTGGGCAGACAGGGGAGA CGGGGGAGAAGGGGGAGTAGGGGGAGAAGGGGGAGATAGGGGAGAAGAGG GAGATGGGGGAGTAGGGGGAGTAGGGGAAGAAGGGGGAGAAGGGGATACT GGGCAGATGGGGGAGAAGGGGGAGAAGGGGAGAAGGGGAGTAGGGGGAGA AGGGGGAGACGGGGGAGATTGGGGAGAAGGGGGAGAAGGGGGAGAAGGGG GAGACTGGGCAGACGGGGGAGACGGGGGAGAAGAGGGAGTAGGGGGAGAA GGGTGAGAAGGGGGAGATGGGGGAGACGGGAGAGACGGGGGAGATGGGGG AGAAGGGGGAGTAGGGGGAAAAGGGGGAGAAGGGGGAGACGGGGGAGACG GGGGAGTAGGGGGAGAAGGGGGAGTAGAGGGGGAAGGGGGAGAAGGGGGA GAAGGAGTAGGGGGAGAAGGGGGAGTAG	GLT6D1	ENSG00000204007.8	transcript	ENST00000371763.6	protein_coding		3490		chr9	TogoVar
GRAMD1B_chr11_123425269_123632767	123584374	T T	TGGGAGGG others(505): Show TGGGAGGGGGAATGGAGGTTGGGGGGAAAGGGTGTGGGGTGCGATTGGGG GAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGG GGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGA ATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGG AGGTTGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGT TGGGGGGAAGGGGTGTGGGATGCGATTGGGGGAGGGGGAATGGAGGTTGG GGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGG GAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGGAA GGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGG TGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTGT GGGGTGCGGTTGG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02895.hp2 HG03195.hp2 others(3): Show HG01123.hp2 HG02895.hp2 HG03195.hp2 HG03540.hp2 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0043 others(3): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0043 a0001c0001t0063 a0001c0001t0090 a0001c0001t0091	a0001c0001t0003g0062 a0001c0001t0009g0187 a0001c0001t0043g0028 others(3): Show a0001c0001t0003g0062 a0001c0001t0009g0187 a0001c0001t0043g0028 a0001c0001t0063g0244 a0001c0001t0090g0034 a0001c0001t0091g0033	6	282	0.0213	512	c.684 others(525): Show c.684+66_684+67insGAAAGGGTGTGGGGTGCGATTGGGGGAGGGGG AATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATG GAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGG TTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGG GGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGG AAGGGGTGTGGGATGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGGAAG GGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGG TGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTGT GGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGG TGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTGTGGGGTGC GGTTGGGGGAGGGGGAATGGAGGTTGGGGG	GRAMD1B	ENSG00000023171.20	transcript	ENST00000635736.2	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GRAMD4_chr22_46615386_46684785	46643088	C C	CATCCATC others(505): Show CATCCATCCATCCATCCATCCATCCATGCATCCATCCATGCATCCTTCCA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATTTATCCATC CCTGGATCCATCCATCCATCCATCCATCCATCCATCCGTCCATCCATCTA TCCATCCATCCATTTATCCATCCATCCATCCATCCATCCATCCACCCACC CACCCACCCACCCATCCATCCATCTATCCATTTATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATC CATCCATCCATCCATCCATCCATCCATCCATCCATGCATGCATCTATCCA TCCATCCATCCATCCATCCATCCATCCATTCATTTATCCATCCCTGGATC CATCCATCCATCTACCCACCTACCCATCCATCCATCTATCCATTTACCCA TCGATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATC CGTGGATCCATCT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0306 a0001c0001t0064g0306	1	328	0.0031	512	c.283 others(529): Show c.283+5154_283+5155insGCATCCATCCATGCATCCTTCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCATTTATCCATCCCTGG ATCCATCCATCCATCCATCCATCCATCCATCCGTCCATCCATCTATCCAT CCATCCATTTATCCATCCATCCATCCATCCATCCATCCACCCACCCACCC ACCCACCCATCCATCCATCTATCCATTTATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATGCATGCATCTATCCATCCAT CCATCCATCCATCCATCCATCCATTCATTTATCCATCCCTGGATCCATCC ATCCATCTACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGAT CCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCGTGG ATCCATCTATCCATCCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643092	C C	CATCCATC others(505): Show CATCCATCCATCCATCCATCCATGCATCCATCCATGCATCCTTCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCATCCATTTATCCATCCCTG GATCCATCCATCCATCCATCCATCCATCCATCCGTCCATCCATCTATCCA TCCATCCATTTATCCATCCATCCATCCATCCATCCATCCACCCACCCACC CACCCACCCATCCATCCATCTATCCATTTATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATC CATCCATCCATCCATCCATCCATCCATCCATCCATGCATGCATCTATCCA TCCATCCATCCATCCATCCATCCATCCATTCATTTATCCATCCCTGGATC CATCCATCCATCTACCCACCTACCCATCCATCCATCTATCCATTTACCCA TCGATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATC CGTGGATCCATCT	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0200 a0001c0001t0006g0200	1	328	0.0031	512	c.283 others(529): Show c.283+5154_283+5155insGCATCCATCCATGCATCCTTCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCATTTATCCATCCCTGG ATCCATCCATCCATCCATCCATCCATCCATCCGTCCATCCATCTATCCAT CCATCCATTTATCCATCCATCCATCCATCCATCCATCCACCCACCCACCC ACCCACCCATCCATCCATCTATCCATTTATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATCCATGCATGCATCTATCCAT CCATCCATCCATCCATCCATCCATCCATTCATTTATCCATCCCTGGATCC ATCCATCCATCTACCCACCTACCCATCCATCCATCTATCCATTTACCCAT CGATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC GTGGATCCATCTATCCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643151	C C	CCATCCAT others(505): Show CCATCCATCCATCCATCCATCCATCCATCCATCCATCCATTTATCCATCC CTGGATCCATCCATCCATCCATCCATCCATCCATCCGTCCATCCATCTAT CCATCCATCCATTTATCCATCCATCCATCCATCCATCCATCCACCCACCC ACCCACCCACCCATCCATCCATCTATCCATTTATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATGCATGCATCTATCCATCCATCCAT CCATCCATCCATCCATTCATTTATCCATCCCTGGATCCATCCATCCATCT ACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGATCCATCTAT CCATCCATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCCATCT ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCCAT CCATGCATGCATG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0222 a0001c0001t0003g0222	1	328	0.0031	512	c.283 others(529): Show c.283+5230_283+5231insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCAT CCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCCATTC ATTTATCCATCCCTGGATCCATCCATCCATCTACCCACCTACCCATCCAT CCATCTATCCATTTACCCATCGATCCATCTATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCGTGGATCCATCTATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATGCATCCATCCATGCATGCATGCATCC ATCCATCCATCCATCCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643155	C C	CCATCCAT others(505): Show CCATCCATCCATCCATCCATCCATCCATCCATTTATCCATCCCTGGATCC ATCCATCCATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCAT CCATTTATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCC ACCCATCCATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCAT CCATCCATTCATTTATCCATCCCTGGATCCATCCATCCATCTACCCACCT ACCCATCCATCCATCTATCCATTTACCCATCGATCCATCTATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCCATCTATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCCAT CCATGCATGCATG	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0247 a0001c0001t0018g0247	1	328	0.0031	512	c.283 others(529): Show c.283+5226_283+5227insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCAT CCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCCATTC ATTTATCCATCCCTGGATCCATCCATCCATCTACCCACCTACCCATCCAT CCATCTATCCATTTACCCATCGATCCATCTATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCGTGGATCCATCTATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCATGCATGC ATGCATCCATCCATCCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643155	C C	CCATCCAT others(505): Show CCATCCATCCATCCATCCATCCATCCATCCATTTATCCATCCCTGGATCC ATCCATCCATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCAT CCATTTATCCATCCATCCATCCATCCATCCATCCATCCACCCACCCACCC ACCCACCCATCCATCCATCTATCCATTTATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATGCATGCATCTATCCATCCAT CCATCCATCCATCCATCCATTCATTTATCCATCCCTGGATCCATCCATCC CTGGATCCATCCATCCATCTACCCACCTACCCATCCATCCATCTATCCAT TTACCCATCGATCCATCTATCCATCCATCCATCCATCCATCCATCCGTGG ATCCATCTATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCAT GCATGCATGCATG	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02040.hp1 HG03491.hp2 others(4): Show HG01952.hp1 HG02040.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 NA18955.hp1 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0023 a0001c0001t0031	a0001c0001t0001g0005 a0001c0001t0001g0151 a0001c0001t0002g0100 others(4): Show a0001c0001t0001g0005 a0001c0001t0001g0151 a0001c0001t0002g0100 a0001c0001t0002g0175 a0001c0001t0012g0005 a0001c0001t0023g0122 a0001c0001t0031g0059	7	328	0.0213	512	c.283 others(529): Show c.283+5226_283+5227insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCAT CCATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCC ATCCATCCATTCATTTATCCATCCCTGGATCCATCCATCCCTGGATCCAT CCATCCATCTACCCACCTACCCATCCATCCATCTATCCATTTACCCATCG ATCCATCTATCCATCCATCCATCCATCCATCCATCCGTGGATCCATCTAT CCATCCATCCATCCATCCATCCATCCATGCATCCATCCATGCATGCATGC ATGCATCCATCCATCCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643155	C C	CCATCCAT others(505): Show CCATCCATCCATCCATCCATCCATCCATTTATCCATCCCTGGATCCATCC ATCCATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCAT TTATCCATCCATCCATCCATCCACCCACCCACCCACCCATCCATCCATCT ATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCCAT TCATTTATCCATCCCTGGATCCATCCATCCCTGGATCCATCCATCCATCT ACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGATCCATCTAT CCATCCATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCCATCT ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCCAT CCATGCATGCATG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0092 a0001c0002t0004g0092	1	328	0.0031	512	c.283 others(529): Show c.283+5222_283+5223insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCACCCACCCACCCACCCATCCATCCATCTATCCAT TTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCCTGG ATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCCATTCATTT ATCCATCCCTGGATCCATCCATCCCTGGATCCATCCATCCATCTACCCAC CTACCCATCCATCCATCTATCCATTTACCCATCGATCCATCTATCCATCC ATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCCATCTATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCATGC ATGCATGCATCCATCCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643155	C C	CCATCCAT others(505): Show CCATCCATCCATCCATCCATCCATCCATTTATCCATCCCTGGATCCATCC ATCCATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCAT TTATCCATCCATCCATCCATCCACCCACCCACCCACCCATCCATCCATCT ATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCCATTCAT TTATCCATCCCTGGATCCATCCATCCCTGGATCCATCCATCCATCTACCC ACCTACCCATCCATCCATCTATCCATTTACCCATCGATCCATCTATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCCATCT ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCCAT CCATGCATGCATG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02970.hp1 HG03098.hp1 HG02965.hp1 HG02970.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0032 a0001c0002t0004g0093 a0001c0002t0004g0094 a0001c0002t0004g0032 a0001c0002t0004g0093 a0001c0002t0004g0094	3	328	0.0092	512	c.283 others(529): Show c.283+5222_283+5223insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCACCCACCCACCCACCCATCCATCCATCTATCCAT TTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCCTGG ATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT GCATGCATCTATCCATCCATCCATCCATCCATCCATCCATTCATTTATCC ATCCCTGGATCCATCCATCCCTGGATCCATCCATCCATCTACCCACCTAC CCATCCATCCATCTATCCATTTACCCATCGATCCATCTATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCCATCTATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCATGC ATGCATGCATCCATCCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643155	C C	CCATCCAT others(505): Show CCATCCATCCATCCATCCATCCATTTATCCATCCCTGGATCCATCCATCC ATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTAT CCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCC ATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCCAT TCATTTATCCATCCCTGGATCCATCCATCCCTGGATCCATCCATCCATCT ACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGATCCATCTAT CCATCCATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCCATCT ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCCAT CCATGCATGCATG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0180 a0001c0001t0038g0180	1	328	0.0031	512	c.283 others(529): Show c.283+5218_283+5219insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCAT CCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCCATTC ATTTATCCATCCCTGGATCCATCCATCCCTGGATCCATCCATCCATCTAC CCACCTACCCATCCATCCATCTATCCATTTACCCATCGATCCATCTATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCCATCTAT CCATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCCATCC ATGCATGCATGCATCCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643159	C C	CCATCCAT others(505): Show CCATCCATCCATCCATCCATCCATCCATCCATTTATCCATCCCTGGATCC ATCCATCCATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCAT CCATTTATCCATCCATCCATCCATCCATCCATCCATCCACCCACCCACCC ACCCACCCATCCATCCATCTATCCATTTATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATGCATGCATCTATCCATCCAT CCATCCATCCATCCATCCATTCATTTATCCATCCCTGGATCCATCCATCC CTGGATCCATCCATCCATCTACCCACCTACCCATCCATCCATCTATCCAT TTACCCATCGATCCATCTATCCATCCATCCATCCATCCATCCATCCGTGG ATCCATCTATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCAT GCATGCATGCATG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00673.hp2 HG01069.hp1 others(9): Show HG00423.hp1 HG00673.hp2 HG01069.hp1 HG01071.hp2 HG01934.hp1 HG02056.hp1 HG02074.hp2 HG04204.hp2 NA18612.hp2 NA18952.hp2 NA19064.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0024 a0001c0001t0001 a0001c0001t0021 a0001c0001t0024	a0001c0001t0001g0072 a0001c0001t0001g0080 a0001c0001t0001g0107 others(8): Show a0001c0001t0001g0072 a0001c0001t0001g0080 a0001c0001t0001g0107 a0001c0001t0001g0116 a0001c0001t0001g0124 a0001c0001t0001g0146 a0001c0001t0001g0160 a0001c0001t0001g0253 a0001c0001t0021g0155 a0001c0001t0021g0156 a0001c0001t0024g0004	12	328	0.0366	512	c.283 others(529): Show c.283+5230_283+5231insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCAT CCATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCC ATCCATCCATTCATTTATCCATCCCTGGATCCATCCATCCCTGGATCCAT CCATCCATCTACCCACCTACCCATCCATCCATCTATCCATTTACCCATCG ATCCATCTATCCATCCATCCATCCATCCATCCATCCGTGGATCCATCTAT CCATCCATCCATCCATCCATCCATCCATGCATCCATCCATGCATGCATGC ATGCATCCATCCATCCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643159	C C	CCATCCAT others(505): Show CCATCCATCCATCCATCCATCCATCCATTTATCCATCCCTGGATCCATCC ATCCATCCATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCAT CCATTTATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCC ACCCATCCATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCAT CCATCCATTCATTTATCCATCCCTGGATCCATCCATCCATCTACCCACCT ACCCATCCATCCATCTATCCATTTACCCATCGATCCATCTATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCGTGGATCCATCTATCCATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCCAT CCATGCATGCATG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0186 a0001c0001t0010g0186	1	328	0.0031	512	c.283 others(529): Show c.283+5226_283+5227insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTT ATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCAT CCATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCC ATTCATTTATCCATCCCTGGATCCATCCATCCATCTACCCACCTACCCAT CCATCCATCTATCCATTTACCCATCGATCCATCTATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCGTGGATCCATCTATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCATGC ATGCATGCATCCATCCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643159	C C	CCATCCAT others(505): Show CCATCCATCCATCCATCCATCCATCCATTTATCCATCCCTGGATCCATCC ATCCATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCAT TTATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCC ATCCATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCAT CCATCCATCCATCCATTCATTTATCCATCCCTGGATCCATCCATCCATCT ACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGATCCATCTAT CCATCCATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCCATCT ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCCAT CCATGCATGCATG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG04115.hp1 HG04228.hp1 HG02056.hp2 HG04115.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0002 a0001c0001t0002 a0001c0005t0002	a0001c0001t0002g0264 a0001c0001t0002g0278 a0001c0005t0002g0294 a0001c0001t0002g0264 a0001c0001t0002g0278 a0001c0005t0002g0294	3	328	0.0092	512	c.283 others(529): Show c.283+5226_283+5227insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCAT CCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCC ATCCATCCATTCATTTATCCATCCCTGGATCCATCCATCCATCTACCCAC CTACCCATCCATCCATCTATCCATTTACCCATCGATCCATCTATCCATCC ATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCCATCTATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCATGC ATGCATGCATCCATCCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643159	C C	CCATCCAT others(505): Show CCATCCATCCATCCATCCATCCATCCATTTATCCATCCCTGGATCCATCC ATCCATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCAT TTATCCATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCC ACCCATCCATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATGCATGCATCTATCCATCCAT CCATCCATCCATCCATCCATTCATTTATCCATCCCTGGATCCATCCATCC CTGGATCCATCCATCCATCTACCCACCTACCCATCCATCCATCTATCCAT TTACCCATCGATCCATCTATCCATCCATCCATCCATCCATCCATCCGTGG ATCCATCTATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCAT GCATGCATGCATG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02083.hp1 NA19011.hp1 others(1): Show HG00621.hp1 HG02083.hp1 NA19011.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0120 others(1): Show a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0159	4	328	0.0122	512	c.283 others(529): Show c.283+5226_283+5227insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCAT CCATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATGCATGCATCTATCCATCCATCCATCC ATCCATCCATCCATTCATTTATCCATCCCTGGATCCATCCATCCCTGGAT CCATCCATCCATCTACCCACCTACCCATCCATCCATCTATCCATTTACCC ATCGATCCATCTATCCATCCATCCATCCATCCATCCATCCGTGGATCCAT CTATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCATGCATGC ATGCATGCATCCATCCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643159	C C	CCATCCAT others(505): Show CCATCCATCCATCCATCCATCCATCCATTTATCCATCCCTGGATCCATCC ATCCATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCAT TTATCCATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCC ACCCATCCATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATGCATGCATCTATCCATCCAT CCATCCATCCATCCATCCATTCATTTATCCATCCCTGGATCCATCCATCC CTGGATCCATCCATCCATCTACCCACCTACCCATCCATCCATCTATCCAT TTACCCATCGATCCATCTATCCATCCATCCATCCATCCATCCATCCGTGG ATCCATCTATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCAT GCATGCATGCATG	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	328	0.0031	512	c.283 others(529): Show c.283+5226_283+5227insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCAT CCATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATGCATGCATCTATCCATCCATCCATCC ATCCATCCATCCATTCATTTATCCATCCCTGGATCCATCCATCCCTGGAT CCATCCATCCATCTACCCACCTACCCATCCATCCATCTATCCATTTACCC ATCGATCCATCTATCCATCCATCCATCCATCCATCCATCCGTGGATCCAT CTATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCATGCATGC ATGCATGCATCCATCCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643159	C C	CCATCCAT others(505): Show CCATCCATCCATCCATCCATCCATCCATTTATCCATCCCTGGATCCATCC ATCCATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCAT TTATCCATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCC ACCCATCCATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATGCATGCATCTATCCATCCATCCAT CCATCCATCCATCCATCCATTCATTTATCCATCCCTGGATCCATCCATCC CTGGATCCATCCATCCATCTACCCACCTACCCATCCATCCATCTATCCAT TTACCCATCGATCCATCTATCCATCCATCCATCCATCCATCCATCCGTGG ATCCATCTATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCAT GCATGCATGCATG	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19074.hp1 NA19065.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0154 a0001c0001t0001g0134 a0001c0001t0001g0154	2	328	0.0061	512	c.283 others(529): Show c.283+5226_283+5227insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCAT CCATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCC ATCCATCCATCCATTCATTTATCCATCCCTGGATCCATCCATCCCTGGAT CCATCCATCCATCTACCCACCTACCCATCCATCCATCTATCCATTTACCC ATCGATCCATCTATCCATCCATCCATCCATCCATCCATCCGTGGATCCAT CTATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCATGCATGC ATGCATGCATCCATCCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643159	C C	CCATCCAT others(505): Show CCATCCATCCATCCATCCATTTATCCATCCCTGGATCCATCCATCCATCC ATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCCAT CCATCCATCCATCCATCCATCCGTCCACCCACCCACCCACCCACCCATCC ATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCCAT TCATTTATCCATCCCTGGATCCATCCATCCCTGGATCCATCCATCCATCT ACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGATCCATCTAT CCATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCCATCTATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCCAT CCATGCATGCATG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02809.hp1 HG02818.hp1 others(3): Show HG02723.hp1 HG02809.hp1 HG02818.hp1 HG03225.hp2 HG03516.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0008 a0001c0001t0008g0009 a0001c0001t0008g0010 others(3): Show a0001c0001t0008g0008 a0001c0001t0008g0009 a0001c0001t0008g0010 a0001c0001t0008g0011 a0001c0001t0008g0012 a0001c0001t0008g0015	6	328	0.0183	512	c.283 others(529): Show c.283+5218_283+5219insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCGTCCACCCACCCACCCACCCACCCAT CCATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCC ATTCATTTATCCATCCCTGGATCCATCCATCCCTGGATCCATCCATCCAT CTACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGATCCATCT ATCCATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCCATCTAT CCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCC ATCCATGCATGCATGCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GSE1_chr16_85608322_85681200	85653201	C C	CCCTCCCC others(505): Show CCCTCCCCCTCCTCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCCCCTC CTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTC CTCCCCCCCTCCCCCCTCCTCCCCCCCTCCCCCCTCCTCCCCCCTCCTCC CCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCC CCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCC TCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCC CTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTC CTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCT CCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCT CCCCCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0001 a0010c0015t0001	a0010c0015t0001g0154 a0010c0015t0001g0154	1	290	0.0035	512	c.427 others(529): Show c.427-1072_427-1071insCCCTCCTCCCTCCTCCTCCCCCCTCCTC CTCCCCCCTCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCC CCCCTCCTCCCCCCTCCTCCCCCCCTCCCCCCTCCTCCCCCCCTCCCCCC TCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCC TCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCT CCTCCCCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCCCCTCCTCC TCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTC CTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTC CTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCT CCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCC CCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GTPBP6_chrX_299759_323796	316049	C C	CACACACA others(505): Show CACACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCC CGGCAGGGACACAAACATACACACGCAGACACACACACACACACACACAC ACACAGTAAATACATCCCGACAGGGACACACACACACAGACACACACACA GAGACACACACAAACACAGTAAACACATCCCGGCAGGGACACAAACATAC ACACGCAGACACACACACACACACACACACACAGTAAATACATCCCGACA GGGACAGACACACACACACAGACACACACACAGAGACACACACAAACACA GTAAACACATCCCGGCAGGAACACAAACACATACATACGCAGACACACAC ACACACACACACACTAAATACATCCCGACAGGGACACAGACACACACACA GAGACACACACAAACACAGTAAACACATCCCAGCAGGGACACAAACACAT ACACACGCAGACACACACACACACACACACACACACACAGTAAATACATC CCGACAGGGACAG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0013 a0004c0006t0003g0013	1	155	0.0065	512	c.488 others(527): Show c.488-751_488-750insCTGTCCCTGTCGGGATGTATTTACTGTGTG TGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTG CTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT CCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTGTGTCTGCGTATG TATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCT CTGTGTGTGTGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTAC TGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTTTGTGTCCCTG CCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT GTGTGTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTG TGTGTCTGCGTGTGTATGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGT TTGTGTGTGTCTCTGTGTGTGTGTCTGTGTGT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar
KIF1A_chr2_240708767_240825219	240812899	G G	GGGATCCG others(505): Show GGGATCCGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTT CACCTCGGGGATCTGCCTTCACCTCAAGGATCCGCCTTCACCTCAAGGAT CCACCTTCACCTCAGGGATCAGCCTTCACCTCGAGATCCACCTTCACCTC AGGCAGGGATCAGCCTTCACCTCAGGGATCTGCCTTCACCTCGGGGATCC GCCTTCACCTCGGGATCTGCCTTCACCTCTGGGTCCGCCTTCACCTCAAG ATCCACCTTCACCTCAGGGATCAGCCTTCACCTCGGGGATCTGCCTTCAC CTCGGGGATCAGCCATCACTCGGGGATCCGCCTTCACCTCGGGGATCCGC CTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCAGCCTTCACCTCGGG GATCCGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTTCA CCTCAAGGATCCGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCA GCCTTCACCTCAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0042 a0001c0001t0016g0042	1	330	0.0030	512	c.-61 others(529): Show c.-61+7222_-61+7223insTTGAGGTGAAGGCTGATCCCCGAGGTGA AGGCGGATCCCCGAGGTGAAGGCGGATCCTTGAGGTGAAGGCGGATCCCC GAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCT GATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGGT GAAGGCGGATCCCCGAGTGATGGCTGATCCCCGAGGTGAAGGCAGATCCC CGAGGTGAAGGCTGATCCCTGAGGTGAAGGTGGATCTTGAGGTGAAGGCG GACCCAGAGGTGAAGGCAGATCCCGAGGTGAAGGCGGATCCCCGAGGTGA AGGCAGATCCCTGAGGTGAAGGCTGATCCCTGCCTGAGGTGAAGGTGGAT CTCGAGGTGAAGGCTGATCCCTGAGGTGAAGGTGGATCCTTGAGGTGAAG GCGGATCCTTGAGGTGAAGGCAGATCCCCGAGGTGAAGGCGGATCCCCGA GGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCC	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	1/48			chr2	TogoVar
LGR6_chr1_202188799_202324761	202205137	C C	CACACACT others(505): Show CACACACTCCTCCAAACACACACACACCTAACACACACCTCCTCCAAACA CACACACACCTCCAAACACACACACACCTAACACACACCTCCTTCAAACA CACACACCTAACACACCCGTCCTTCAAACACACACACACCACACACACAC ATCTAACACACACCTCCTTCAGACACACACCTCCAAACACACACACACCT TACACACACCTTCAAACACACACACACACCTAACACACACCTCCTTCAAA CACACACACCTCCAAACACACACATCTAACACACACCTCCTTCAAACACA CACACCTCCAAACACACACACACCTAACACACAGCTTCTTCAAACACACA CACACCTCCAAACACACACACACCTAACACACACCTCCTTCAAACACACA AACCTCCAGCACACACACCTAACACACACCTCCTTCAAACACACACCTCC ACACACACACACACCTAACACACACCTCCTTCAAACACACACACCTCCAA ACACACACACCTA	intron_variant intron_variant	MODIFIER	HG01168.hp2 NA18970.hp2 HG01168.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0013 a0001c0001t0001g0014	2	262	0.0076	512	c.212 others(531): Show c.212+10942_212+10943insTCCTCCAAACACACACACACCTAACA CACACCTCCTCCAAACACACACACACCTCCAAACACACACACACCTAACA CACACCTCCTTCAAACACACACACCTAACACACCCGTCCTTCAAACACAC ACACACCACACACACACATCTAACACACACCTCCTTCAGACACACACCTC CAAACACACACACACCTTACACACACCTTCAAACACACACACACACCTAA CACACACCTCCTTCAAACACACACACCTCCAAACACACACATCTAACACA CACCTCCTTCAAACACACACACCTCCAAACACACACACACCTAACACACA GCTTCTTCAAACACACACACACCTCCAAACACACACACACCTAACACACA CCTCCTTCAAACACACAAACCTCCAGCACACACACCTAACACACACCTCC TTCAAACACACACCTCCACACACACACACACCTAACACACACCTCCTTCA AACACACACACCTCCAAACACACACACCTAACACAC	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATATTT others(505): Show ATATATTTATATATATTTATATATATTTATATATATTTATATATATATTT ATATATATATATTTATATATATATTTATATATATTTATATATATATTTAT ATATATATATTTTTATATATATTTATATATATTTTATATATAGTTATATA TATTTATATATAGTTATATATATTTATGTATAGTTATATATAGTTATGTA TAGTTATATAGTTATATATATAGTTATATATAGTTATATATATAGTTATA TATATATATTTTTATATATATATTTATATATATATTTTTATATATATATT TATATATATTTATATATATATTTATATATATAAATATATATATATTTATA TATATATTTTATATATATATATATATATTTATATATATATTTATATATAT TTATATAATATTTATATATATTTATATATAATTTATATATTTATATATGT ATTTATATATTTATATATGTATTTATATATATTTATATATAATTATATGT ATTTATATATATT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	260	0.0039	512	c.125 others(529): Show c.125+9673_125+9674insATTTATATATATTTATATATATTTATAT ATATTTATATATATATTTATATATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATATATTTTTATATATATTTATATATAT TTTATATATAGTTATATATATTTATATATAGTTATATATATTTATGTATA GTTATATATAGTTATGTATAGTTATATAGTTATATATATAGTTATATATA GTTATATATATAGTTATATATATATATTTTTATATATATATTTATATATA TATTTTTATATATATATTTATATATATTTATATATATATTTATATATATA AATATATATATATTTATATATATATTTTATATATATATATATATATTTAT ATATATATTTATATATATTTATATAATATTTATATATATTTATATATAAT TTATATATTTATATATGTATTTATATATTTATATATGTATTTATATATAT TTATATATAATTATATGTATTTATATATATTTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF1_chr16_848634_975984	859625	C C	CAGTGGTG others(505): Show CAGTGGTGTCACGGGACGGGTGTGAGTGATGTCACGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTCGTGTCACGGGACGGGTGTGCAGTGGT GTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGT CACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCG GGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGA CGGGTGTGAGTGATGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGG GTGTGAGTGATGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGT GAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGCGAG TGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGT GTCACGGGACGGGTGCGAGTGGTGTCACGGGAGGGGTGCGAGTGGTGTCT CGGGACGGGTGCG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0005 a0005	a0005c0034 a0005c0034	a0005c0034t0015 a0005c0034t0015	a0005c0034t0015g0274 a0005c0034t0015g0274	1	294	0.0034	512	c.153 others(531): Show c.1530-4920_1530-4919insCGCACCCGTCCCGAGACACCACTCGC ACCCCTCCCGTGACACCACTCGCACCCGTCCCGTGACACCACTCGCACCC GTCCCGAGACACCACTCGCACCCGTCCCGAGACACCACTCGCACCCGTCC CGTGACACCACTGCACACCCGTCCCGTGACACCACTCACACCCGTCCCGT GACACCACTCACACCCGTCCCGTGACATCACTCACACCCGTCCCGAGACA CCACTGCACACCCGTCCCGAGACATCACTCACACCCGTCCCGTGACACCA CTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTC ACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTGCACA CCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACACC CGTCCCGTGACACGACTCACACCCGTCCCGAGACACCACTCACACCCGTC CCGTGACATCACTCACACCCGTCCCGTGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LOC102723971_chr9_135609183_135624893	135620157	T T	TCTACTCC others(505): Show TCTACTCCCCCTTCTCCCCCTACTCCTTCTCCCCCTTCTCCCCCTTCCCC CTCTACTCCCCCTTCTCCCCCTACTCCCCCGTCTCCCCCGTCTCCCCCTT CTCCCCCTTTTCCCCCTACTCCCCCTTCTCCCCCATCTCCCCCGTCTCTC CCGTCTCCCCCATCTCCCCCTTCTCACCCTTCTCCCCCTACTCCCTCTTC TCCCCCGTCTCCCCCGTCTGCCCAGTCTCCCCCTTCTCCCCCTTCTCCCC CTTCTCCCCAATCTCCCCCGTCTCCCCCTTCTCCCCCTACTCCCCTTCTC CCCTTCTCCCCCTTCTCCCCCATCTGCCCAGTATCCCCTTCTCCCCCTTC TTCCCCTACTCCCCCTACTCCCCCATCTCCCTCTTCTCCCCTATCTCCCC CTTCTCCCCCTACTCCCCCTTCTCCCCCGTCTCCCCTGTCTGCCCAGTCT CCCCCATCTCCCCCTACTCCCCCTTCTCCCCCTACTCCTTCTCCCCTTCT CCCCCTTCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0003 a0003c0003t0001g0003	1	450	0.0022	512	c.12 others(523): Show c.1205_*1206insCTACTCCCCCTTCTCCCCCTACTCCTTCTCCCCC TTCTCCCCCTTCCCCCTCTACTCCCCCTTCTCCCCCTACTCCCCCGTCTC CCCCGTCTCCCCCTTCTCCCCCTTTTCCCCCTACTCCCCCTTCTCCCCCA TCTCCCCCGTCTCTCCCGTCTCCCCCATCTCCCCCTTCTCACCCTTCTCC CCCTACTCCCTCTTCTCCCCCGTCTCCCCCGTCTGCCCAGTCTCCCCCTT CTCCCCCTTCTCCCCCTTCTCCCCAATCTCCCCCGTCTCCCCCTTCTCCC CCTACTCCCCTTCTCCCCTTCTCCCCCTTCTCCCCCATCTGCCCAGTATC CCCTTCTCCCCCTTCTTCCCCTACTCCCCCTACTCCCCCATCTCCCTCTT CTCCCCTATCTCCCCCTTCTCCCCCTACTCCCCCTTCTCCCCCGTCTCCC CTGTCTGCCCAGTCTCCCCCATCTCCCCCTACTCCCCCTTCTCCCCCTAC TCCTTCTCCCCTTCTCCCCCTTCCCCCC	LOC102723971	ENSG00000236543.3	transcript	ENST00000430816.3	protein_coding		265		chr9	TogoVar

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Search Results (Total: 10000 hits)