Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
FUT1_chr19_48743011_48757641	48755146	C C	CCCCAGCC others(98): Show CCCCAGCCCCTCCTCCCTCAGATCCAGGAGTACAGGCCCAGCCCCTCCTC CCTCAGATCCAGGAGTACAGGCCCAGACCCTCCTCCCTCAGATCCAGGAG TACAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	438	0.0023	105	c.-26 others(116): Show c.-2660_-2659insCCTGTACTCCTGGATCTGAGGGAGGAGGGTCTGG GCCTGTACTCCTGGATCTGAGGGAGGAGGGGCTGGGCCTGTACTCCTGGA TCTGAGGGAGGAGGGGCTGGG		FUT1	ENSG00000174951.12	transcript	ENST00000645652.2	protein_coding					2506		chr19	TogoVar
GABRA3_chrX_152161234_152456315	152275240	T T	TAATATTA others(98): Show TAATATTATATATATAATTTATATTTAATATTATATATATAATTTATATA TATTTAATATTATATATATAATTTATATATATAATATTATATATATAATT TATATA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02630.hp2 HG02922.hp2 others(1): Show HG02257.hp1 HG02630.hp2 HG02922.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0013 a0001c0001t0002 a0001c0001t0011 a0001c0001t0013	a0001c0001t0002g0086 a0001c0001t0011g0203 a0001c0001t0011g0204 others(1): Show a0001c0001t0002g0086 a0001c0001t0011g0203 a0001c0001t0011g0204 a0001c0001t0013g0180	4	204	0.0196	105	c.330 others(122): Show c.330+9427_330+9428insTATATAAATTATATATATAATATTATAT ATATAAATTATATATATAATATTAAATATATATAAATTATATATATAATA TTAAATATAAATTATATATATAATATT		GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	4/9						chrX	TogoVar
GALM_chr2_38661114_38739765	38686243	T T	TTCTTCCT others(98): Show TTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTT CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0229 a0001c0001t0002g0229	1	328	0.0031	105	c.553 others(122): Show c.553-3570_553-3569insTCTTCCTTTCTTCCTTTCTTCCTTTCTT CCTTTCTTCCTTTCTTCCTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTC		GALM	ENSG00000143891.17	transcript	ENST00000272252.10	protein_coding	3/6						chr2	TogoVar
GALNS_chr16_88808734_88861947	88834396	C C	CCCCGCGT others(98): Show CCCCGCGTGGTCTGGGAAGAGGCGGCAGGGCCCCCCGCGTGGTCTGGGAA GAGGCTGCAGGGCCCCCCTCAGCGTGGTCTGGGAAGAGGCTGTAGGGCTC TCCCCA	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0135 a0001c0002t0002g0135	1	404	0.0025	105	c.898 others(120): Show c.898+816_898+817insTGGGGAGAGCCCTACAGCCTCTTCCCAGAC CACGCTGAGGGGGGCCCTGCAGCCTCTTCCCAGACCACGCGGGGGGCCCT GCCGCCTCTTCCCAGACCACGCGGG		GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	8/13						chr16	TogoVar
GALNS_chr16_88808734_88861947	88834396	C C	CCCCGCGT others(98): Show CCCCGCGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCGCGTGGTCTGGGAA GAGGCTGCAGGGCCCCCCTCAGCGTGGTCTGGGAAGAGGCTGTAGGGCTC TCCCCA	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18979.hp1 NA18979.hp2 others(2): Show NA18974.hp1 NA18979.hp1 NA18979.hp2 NA19063.hp2 NA19081.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0002t0008 a0001c0004t0001 a0001c0002t0002 a0001c0002t0008 a0001c0004t0001	a0001c0002t0002g0069 a0001c0002t0008g0177 a0001c0004t0001g0031 others(2): Show a0001c0002t0002g0069 a0001c0002t0008g0177 a0001c0004t0001g0031 a0001c0004t0001g0034 a0001c0004t0001g0056	5	404	0.0124	105	c.898 others(120): Show c.898+816_898+817insTGGGGAGAGCCCTACAGCCTCTTCCCAGAC CACGCTGAGGGGGGCCCTGCAGCCTCTTCCCAGACCACGCGGGGGGCCCT GCAGCCTCTTCCCAGACCACGCGGG		GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	8/13						chr16	TogoVar
GALNS_chr16_88808734_88861947	88834396	C C	CCCGCGTG others(98): Show CCCGCGTGGTCTGGGAAGAGGCGGCAGGGCCCCCCGCGTGGTCTGGGAAG AGGCTGCAGGGCCCCCCCTCAGCGTGGTCTGGGAAGAGGCTGTAGGGCTC TCCCCA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0011 a0011	a0011c0019 a0011c0019	a0011c0019t0002 a0011c0019t0002	a0011c0019t0002g0086 a0011c0019t0002g0086	1	404	0.0025	105	c.898 others(120): Show c.898+816_898+817insTGGGGAGAGCCCTACAGCCTCTTCCCAGAC CACGCTGAGGGGGGGCCCTGCAGCCTCTTCCCAGACCACGCGGGGGGCCC TGCCGCCTCTTCCCAGACCACGCGG		GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	8/13						chr16	TogoVar
GALNS_chr16_88808734_88861947	88834407	T T	TGGGAAGA others(98): Show TGGGAAGAGGCTGCAGGGCCCCCCCGCGTGGTCTGGGAAGAGGCTGCAGG GCCCCCCTCAGCGTGGTCTGGGAAGAGGCTGTAGGGCTCTCCCCACCGCG TGGTCC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02559.hp2 HG02622.hp1 others(1): Show HG02145.hp2 HG02559.hp2 HG02622.hp1 HG03098.hp2	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0001 a0005c0012t0001	a0005c0012t0001g0018 a0005c0012t0001g0019 a0005c0012t0001g0020 others(1): Show a0005c0012t0001g0018 a0005c0012t0001g0019 a0005c0012t0001g0020 a0005c0012t0001g0021	4	404	0.0099	105	c.898 others(120): Show c.898+805_898+806insGGACCACGCGGTGGGGAGAGCCCTACAGCC TCTTCCCAGACCACGCTGAGGGGGGCCCTGCAGCCTCTTCCCAGACCACG CGGGGGGGCCCTGCAGCCTCTTCCC		GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	8/13						chr16	TogoVar
GALNS_chr16_88808734_88861947	88859980	C C	CTACTTTC others(98): Show CTACTTTCTGTGTCTGCATCCAGTCCAGGTGGGCCTTACTTTCTGTGTCT GCATCCAGTCCAGGTGGGCCCTACTTTCTGTGTCTGCATCCAGTCCAGGT GGGCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	404	0.0025	105	c.-31 others(116): Show c.-3104_-3103insAGGCCCACCTGGACTGGATGCAGACACAGAAAGT AGGGCCCACCTGGACTGGATGCAGACACAGAAAGTAAGGCCCACCTGGAC TGGATGCAGACACAGAAAGTA		GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding					3034		chr16	TogoVar
GCNT4_chr5_75020346_75057558	75034898	G G	GCACCCCA others(98): Show GCACCCCAGCTAAGCGGACACGACCGCATTCAGGGACACCCCAGCTAAGC GGACACGACCGCATTCAGGGACACCCCAGCTAAGCGGACACGACCGCATT CAGGGA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01243.hp2 HG01891.hp2 others(30): Show HG00642.hp2 HG01243.hp2 HG01891.hp2 HG02055.hp2 HG02056.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02559.hp2 HG02647.hp2 HG02723.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 NA18941.hp2 NA18970.hp2 NA19005.hp2 NA19043.hp1 NA19240.hp1 NA19240.hp2 NA21309.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0012 a0003c0003t0015 a0003c0003t0020 others(9): Show a0003c0003t0012 a0003c0003t0015 a0003c0003t0020 a0003c0003t0029 a0003c0003t0030 a0003c0003t0031 a0003c0003t0032 a0003c0003t0056 a0003c0003t0057 a0003c0003t0058 a0003c0003t0059 a0003c0003t0060	a0003c0003t0012g0049 a0003c0003t0012g0100 a0003c0003t0012g0101 others(26): Show a0003c0003t0012g0049 a0003c0003t0012g0100 a0003c0003t0012g0101 a0003c0003t0012g0102 a0003c0003t0012g0151 a0003c0003t0012g0200 a0003c0003t0012g0276 a0003c0003t0012g0314 a0003c0003t0015g0009 a0003c0003t0015g0045 a0003c0003t0015g0152 a0003c0003t0015g0153 a0003c0003t0020g0050 a0003c0003t0020g0052 a0003c0003t0020g0053 a0003c0003t0020g0054 a0003c0003t0020g0056 a0003c0003t0029g0091 a0003c0003t0029g0092 a0003c0003t0030g0093 a0003c0003t0030g0094 a0003c0003t0031g0051 a0003c0003t0031g0313 a0003c0003t0032g0012 a0003c0003t0056g0055 a0003c0003t0057g0172 a0003c0003t0058g0090 a0003c0003t0059g0057 a0003c0003t0060g0312	33	382	0.0864	105	c.-1- others(120): Show c.-1-4965_-1-4861dupTCCCTGAATGCGGTCGTGTCCGCTTAGCTG GGGTGTCCCTGAATGCGGTCGTGTCCGCTTAGCTGGGGTGTCCCTGAATG CGGTCGTGTCCGCTTAGCTGGGGTG		GCNT4	ENSG00000176928.7	transcript	ENST00000652361.2	protein_coding	3/3						chr5	TogoVar
GET4_chr7_871554_901436	893603	C C	CGGTGGTG others(98): Show CGGTGGTGTGTGCAGGTGAGTGTTGGGTGCGGGCGTGGTGGTGGTTGCAG GTGAGTGTTGGGTGTAGGCGTGGTGGTTGCAGGTGAGTGTTGGGCAAGGG CGCGGT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	384	0.0026	105	c.747 others(120): Show c.747-133_747-132insGTGTGTGCAGGTGAGTGTTGGGTGCGGGCG TGGTGGTGGTTGCAGGTGAGTGTTGGGTGTAGGCGTGGTGGTTGCAGGTG AGTGTTGGGCAAGGGCGCGGTGGTG		GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr7	TogoVar
GINS1_chr20_25402673_25453563	25452530	A A	AGAGGGAG others(98): Show AGAGGGAGGAGGCTGAGAACAGAACAGGCTCCCGCCCTCCACAGTGCTGT GGCAGGATATTATTCTTACTAGACATGCCAGCTTTGGGATGGCGTCTGAC CCGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	360	0.0028	105	c.65 others(116): Show c.6539_*6540insGAGGGAGGAGGCTGAGAACAGAACAGGCTCCCGC CCTCCACAGTGCTGTGGCAGGATATTATTCTTACTAGACATGCCAGCTTT GGGATGGCGTCTGACCCGGAC		GINS1	ENSG00000101003.12	transcript	ENST00000262460.5	protein_coding					3968		chr20	TogoVar
GMEB2_chr20_63582605_63632101	63607914	A A	ACCCCACA others(98): Show ACCCCACATCCATTTCTAGAAACATGCCCCTCTGACCCCACATCCATTTC TAGAAACATGCCCCTCTGACCCCACACATCCATTTCTAGAAACATGCCCC TCTGAC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0145 a0001c0003t0002g0145	1	330	0.0030	105	c.132 others(122): Show c.132-3075_132-3074insGTCAGAGGGGCATGTTTCTAGAAATGGA TGTGTGGGGTCAGAGGGGCATGTTTCTAGAAATGGATGTGGGGTCAGAGG GGCATGTTTCTAGAAATGGATGTGGGG		GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9						chr20	TogoVar
GMEB2_chr20_63582605_63632101	63608967	A A	ACCCACAC others(98): Show ACCCACACATCCATTTCTAGAAACATGTCCCTCTGACCCCACCTCCATTT CCAGAAACATGCCCCTCTGACCCACACATCCATTTCTAGAAACATGTCCC TCTGAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02083.hp1 HG00099.hp2 HG02083.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0003c0013 a0001c0003 a0003c0013	a0001c0003t0002 a0003c0013t0002 a0001c0003t0002 a0003c0013t0002	a0001c0003t0002g0144 a0003c0013t0002g0131 a0001c0003t0002g0144 a0003c0013t0002g0131	2	330	0.0061	105	c.132 others(122): Show c.132-4128_132-4127insGTCAGAGGGACATGTTTCTAGAAATGGA TGTGTGGGTCAGAGGGGCATGTTTCTGGAAATGGAGGTGGGGTCAGAGGG ACATGTTTCTAGAAATGGATGTGTGGG		GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9						chr20	TogoVar
GOLGA4_chr3_37238271_37371879	37258067	A A	ATGTATAT others(98): Show ATGTATATATACATACATATATATATGTATGTATATATGTATATATACAT ACATATATATATGTATGTATATATGTATATATATATGTGTGTATATATAT ATGCTC	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0159 a0001c0010t0001g0159	1	272	0.0037	105	c.162 others(122): Show c.162+6593_162+6594insCATACATATATATATGTATGTATATATG TATATATACATACATATATATATGTATGTATATATGTATATATATATGTG TGTATATATATATGCTCTGTATATATA		GOLGA4	ENSG00000144674.19	transcript	ENST00000361924.7	protein_coding	2/23					INFO_REALIGN_3_PRIME	chr3	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440178	C C	CCTCCTGC others(98): Show CCTCCTGCTCCCGCATCATCTCCTCCTCCTCCCGCATCTTCTTCTCCCGC TCCCGCATGCTCTCCTCCTCTCGCATCTTCTCCTGGTCCCATGTCTTCTT CTCCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(278): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02970.hp2 HG02976.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19080.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(24): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0028 a0030	a0001c0001 a0001c0003 a0001c0005 others(53): Show a0001c0001 a0001c0003 a0001c0005 a0001c0013 a0001c0014 a0001c0015 a0001c0017 a0001c0018 a0001c0019 a0001c0027 a0001c0029 a0001c0033 a0001c0048 a0001c0052 a0001c0053 a0001c0054 a0001c0055 a0001c0056 a0001c0057 a0001c0058 a0001c0059 a0001c0060 a0001c0061 a0001c0062 a0001c0063 a0001c0064 a0001c0065 a0002c0041 a0003c0007 a0003c0068 a0003c0069 a0005c0009 a0006c0020 a0006c0031 a0007c0028 a0008c0026 a0009c0021 a0010c0030 a0011c0042 a0012c0077 a0013c0076 a0014c0074 a0015c0073 a0016c0067 a0017c0043 a0018c0050 a0019c0070 a0020c0049 a0021c0071 a0022c0072 a0023c0047 a0024c0046 a0025c0045 a0026c0040 a0028c0035 a0030c0079	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(64): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0018 a0001c0001t0020 a0001c0001t0023 a0001c0003t0001 a0001c0005t0001 a0001c0005t0004 a0001c0013t0001 a0001c0013t0003 a0001c0014t0001 a0001c0015t0001 a0001c0017t0001 a0001c0018t0001 a0001c0019t0001 a0001c0019t0003 a0001c0027t0001 a0001c0029t0001 a0001c0033t0001 a0001c0048t0001 a0001c0052t0001 a0001c0053t0001 a0001c0054t0001 a0001c0055t0001 a0001c0056t0001 a0001c0057t0001 a0001c0058t0001 a0001c0059t0001 a0001c0060t0001 a0001c0061t0001 a0001c0062t0001 a0001c0063t0009 a0001c0064t0001 a0001c0065t0001 a0002c0041t0007 a0003c0007t0001 a0003c0007t0009 a0003c0068t0001 a0003c0069t0001 a0005c0009t0001 a0006c0020t0010 a0006c0031t0010 a0007c0028t0015 a0007c0028t0016 a0008c0026t0005 a0009c0021t0014 a0010c0030t0019 a0011c0042t0009 a0012c0077t0001 a0013c0076t0001 a0014c0074t0001 a0015c0073t0001 a0016c0067t0001 a0017c0043t0001 a0018c0050t0001 a0019c0070t0001 a0020c0049t0001 a0021c0071t0001 a0022c0072t0001 a0023c0047t0004 a0024c0046t0001 a0025c0045t0004 a0026c0040t0022 a0028c0035t0004 a0030c0079t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(92): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0003g0004 a0001c0001t0003g0026 a0001c0001t0004g0023 a0001c0001t0004g0034 a0001c0001t0004g0050 a0001c0001t0004g0064 a0001c0001t0004g0106 a0001c0001t0012g0038 a0001c0001t0018g0074 a0001c0001t0020g0098 a0001c0001t0023g0107 a0001c0003t0001g0006 a0001c0003t0001g0017 a0001c0003t0001g0133 a0001c0005t0001g0008 a0001c0005t0001g0087 a0001c0005t0001g0091 a0001c0005t0001g0112 a0001c0005t0004g0092 a0001c0013t0001g0021 a0001c0013t0003g0095 a0001c0014t0001g0013 a0001c0015t0001g0012 a0001c0017t0001g0033 a0001c0017t0001g0096 a0001c0018t0001g0022 a0001c0019t0001g0055 a0001c0019t0003g0035 a0001c0027t0001g0032 a0001c0029t0001g0048 a0001c0033t0001g0061 a0001c0048t0001g0065 a0001c0052t0001g0069 a0001c0053t0001g0070 a0001c0054t0001g0071 a0001c0055t0001g0072 a0001c0056t0001g0090 a0001c0057t0001g0097 a0001c0058t0001g0073 a0001c0059t0001g0075 a0001c0060t0001g0076 a0001c0061t0001g0077 a0001c0062t0001g0099 a0001c0063t0009g0078 a0001c0064t0001g0100 a0001c0065t0001g0101 a0002c0041t0007g0126 a0003c0007t0001g0007 a0003c0007t0009g0036 a0003c0068t0001g0080 a0003c0069t0001g0081 a0005c0009t0001g0011 a0005c0009t0001g0037 a0006c0020t0010g0045 a0006c0031t0010g0130 a0007c0028t0015g0046 a0007c0028t0016g0047 a0008c0026t0005g0044 a0009c0021t0014g0056 a0009c0021t0014g0057 a0010c0030t0019g0060 a0011c0042t0009g0086 a0012c0077t0001g0111 a0013c0076t0001g0110 a0014c0074t0001g0085 a0015c0073t0001g0104 a0016c0067t0001g0102 a0017c0043t0001g0132 a0018c0050t0001g0066 a0019c0070t0001g0082 a0020c0049t0001g0094 a0021c0071t0001g0103 a0022c0072t0001g0054 a0023c0047t0004g0049 a0024c0046t0001g0093 a0025c0045t0004g0062 a0026c0040t0022g0125 a0028c0035t0004g0116 a0030c0079t0001g0137	281	396	0.7096	105	c.229 others(114): Show c.2296_2297insCAGGAGAAGAAGACATGGGACCAGGAGAAGATGCGA GAGGAGGAGAGCATGCGGGAGCGGGAGAAGAAGATGCGGGAGGAGGAGGA GATGATGCGGGAGCAGGAG	p.Gly others(118): Show p.Gly765_Gly766insAlaGlyGluGluAspMetGlyProGlyGluAs pAlaArgGlyGlyGluHisAlaGlyAlaGlyGluGluAspAlaGlyGlyG lyGlyAspAspAlaGlyAlaGly	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2358/3499	2296/2730	766/909			chr15	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440178	C C	CCTCCTGC others(98): Show CCTCCTGCTCCCGCATCATCTCCTCCTCCTCCTGCATCTTCTTCTCCCGC TCCCGCATGCTCTCCTCCTCTCGCATCTTCTCCTGGTCCCATGTCTTCTT CTCCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp1 HG01361.hp1 HG01928.hp1 others(6): Show HG00099.hp1 HG01361.hp1 HG01928.hp1 HG02109.hp1 HG02602.hp1 HG03491.hp2 HG03710.hp2 NA20752.hp2 NA20905.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0003 a0004c0006t0004 a0004c0006t0001 a0004c0006t0003 a0004c0006t0004	a0004c0006t0001g0010 a0004c0006t0003g0020 a0004c0006t0004g0068 a0004c0006t0001g0010 a0004c0006t0003g0020 a0004c0006t0004g0068	9	396	0.0227	105	c.229 others(114): Show c.2296_2297insCAGGAGAAGAAGACATGGGACCAGGAGAAGATGCGA GAGGAGGAGAGCATGCGGGAGCGGGAGAAGAAGATGCAGGAGGAGGAGGA GATGATGCGGGAGCAGGAG	p.Gly others(118): Show p.Gly765_Gly766insAlaGlyGluGluAspMetGlyProGlyGluAs pAlaArgGlyGlyGluHisAlaGlyAlaGlyGluGluAspAlaGlyGlyG lyGlyAspAspAlaGlyAlaGly	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2358/3499	2296/2730	766/909			chr15	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440178	C C	CCTCCTGC others(98): Show CCTCCTGCTCCCGTATCATCTCCTCCTCCTCCCGCATCTTCTTCTCCCGC TCCCGCATGCTCTCCTCCTCTCGCATCTTCTCCTGGTCCCATGTCTTCTT CTCCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02258.hp2 HG02615.hp1 HG02717.hp2 others(11): Show HG02258.hp2 HG02615.hp1 HG02717.hp2 HG02809.hp1 HG02970.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03516.hp1 HG06807.hp2 NA19240.hp1	a0002 a0027 a0002 a0027	a0002c0008 a0002c0011 a0027c0039 a0002c0008 a0002c0011 a0027c0039	a0002c0008t0007 a0002c0008t0013 a0002c0008t0021 others(3): Show a0002c0008t0007 a0002c0008t0013 a0002c0008t0021 a0002c0008t0024 a0002c0011t0008 a0027c0039t0007	a0002c0008t0007g0016 a0002c0008t0013g0043 a0002c0008t0021g0127 others(4): Show a0002c0008t0007g0016 a0002c0008t0013g0043 a0002c0008t0021g0127 a0002c0008t0024g0128 a0002c0011t0008g0018 a0002c0011t0008g0138 a0027c0039t0007g0124	14	396	0.0354	105	c.229 others(114): Show c.2296_2297insCAGGAGAAGAAGACATGGGACCAGGAGAAGATGCGA GAGGAGGAGAGCATGCGGGAGCGGGAGAAGAAGATGCGGGAGGAGGAGGA GATGATACGGGAGCAGGAG	p.Gly others(118): Show p.Gly765_Gly766insAlaGlyGluGluAspMetGlyProGlyGluAs pAlaArgGlyGlyGluHisAlaGlyAlaGlyGluGluAspAlaGlyGlyG lyGlyAspAspThrGlyAlaGly	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2358/3499	2296/2730	766/909			chr15	TogoVar
GOLGA6L4_chr15_84230773_84250358	84240063	T T	TGTGAACA others(98): Show TGTGAACAGGAGGAGAGGCTGTGTGAACAGGAGGAGAGGCTACGTGAACA TGAGGAGAGGCTGTGTGAACAGGAGGAGAGGCTATGTGAACAGGAGGAGA GGCTAC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03225.hp2 HG03225.hp2	a0038 a0038	a0038c0056 a0038c0056	a0038c0056t0011 a0038c0056t0011	a0038c0056t0011g0013 a0038c0056t0011g0013	1	251	0.0040	105	c.728 others(112): Show c.728_729insGTGTGAACAGGAGGAGAGGCTACGTGAACATGAGGAGA GGCTGTGTGAACAGGAGGAGAGGCTATGTGAACAGGAGGAGAGGCTACGT GAACAGGAGGAGAGGCT	p.Leu others(118): Show p.Leu243_Arg244insCysGluGlnGluGluArgLeuArgGluHisGl uGluArgLeuCysGluGlnGluGluArgLeuCysGluGlnGluGluArgL euArgGluGlnGluGluArgLeu	GOLGA6L4	ENSG00000184206.13	transcript	ENST00000510439.7	protein_coding	6/9	791/4553	729/1725	243/574		INFO_REALIGN_3_PRIME	chr15	TogoVar
GOLGA6L4_chr15_84230773_84250358	84240169	A A	ATGAACAG others(98): Show ATGAACAGGAGGAGAGGCTACGTGAACAGGAGGAGAGGCTACGTGAACAG GAGGAGAGGCTGTGTGAACAGGAGGAGAGGCTACGTGAACATGAGGAGAG GCTGTG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19068.hp1 NA19068.hp1	a0036 a0036	a0036c0040 a0036c0040	a0036c0040t0012 a0036c0040t0012	a0036c0040t0012g0002 a0036c0040t0012g0002	1	251	0.0040	105	c.854 others(112): Show c.854_855insACGTGAACAGGAGGAGAGGCTGTGTGAACAGGAGGAGA GGCTACGTGAACATGAGGAGAGGCTGTGTGAACAGGAGGAGAGGCTACGT GAACAGGAGGAGAGGCT	p.Leu others(118): Show p.Leu285_Cys286insArgGluGlnGluGluArgLeuCysGluGlnGl uGluArgLeuArgGluHisGluGluArgLeuCysGluGlnGluGluArgL euArgGluGlnGluGluArgLeu	GOLGA6L4	ENSG00000184206.13	transcript	ENST00000510439.7	protein_coding	6/9	917/4553	855/1725	285/574		INFO_REALIGN_3_PRIME	chr15	TogoVar
GPATCH2_chr1_217421992_217636090	217524847	C C	CGTGGAAA others(98): Show CGTGGAAAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGA GGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAG GGGAGA	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA19009.hp2 HG03654.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0052 a0001c0001t0005g0095 a0001c0001t0003g0052 a0001c0001t0005g0095	2	188	0.0106	105	c.109 others(124): Show c.1099-9959_1099-9958insTCTCCCCTCTCCCCTCTCCCCTCTCC CCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCC CTCTCCCCTCTCCCCTCTCCCCTTTCCAC		GPATCH2	ENSG00000092978.11	transcript	ENST00000366935.8	protein_coding	5/9						chr1	TogoVar
GPR139_chr16_20023239_20078890	20041128	A A	AAGGAAAG others(98): Show AAGGAAAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAG	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	364	0.0028	105	c.128 others(122): Show c.128-8460_128-8459insCTCCTCTCCTCTCCTCTCCTCTCCTCTC CTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTC CTCTCCTCTCCTCTCCTCTCCTTTCCT		GPR139	ENSG00000180269.8	transcript	ENST00000570682.2	protein_coding	1/1						chr16	TogoVar
GRAMD1B_chr11_123425269_123632767	123457117	A A	AGAAAGAA others(98): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAG	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0127 a0001c0001t0004g0127	1	282	0.0036	105	c.375 others(124): Show c.375-23699_375-23698insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAG		GRAMD1B	ENSG00000023171.20	transcript	ENST00000635736.2	protein_coding	1/19						chr11	TogoVar
GRP_chr18_59215158_59235771	59234548	C C	CATACCAT others(98): Show CATACCATGGTATATATATAATATAACATATTATACATACCATGGTATAT ATATAATATAACATATTATACATACCATGGTATATATATAATATAACATA TTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	1	408	0.0025	105	c.40 others(116): Show c.4080_*4081insATACCATGGTATATATATAATATAACATATTATA CATACCATGGTATATATATAATATAACATATTATACATACCATGGTATAT ATATAATATAACATATTATAT		GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding					3778		chr18	TogoVar
GRP_chr18_59215158_59235771	59234548	C C	CATACCAT others(98): Show CATACCATGGTATATATATAATATAACATATTATATATACCATGGTATAT ATATAATATAACATATTATATATACCATGGTATATATATTATATAACATA TTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0086 a0002c0002t0001g0086	1	408	0.0025	105	c.40 others(116): Show c.4080_*4081insATACCATGGTATATATATAATATAACATATTATA TATACCATGGTATATATATAATATAACATATTATATATACCATGGTATAT ATATTATATAACATATTATAT		GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding					3778		chr18	TogoVar
GRSF1_chr4_70810783_70844890	70840012	C C	CTTGGGCG others(98): Show CTTGGGCGGGGCTGCCCATGGTTTGGGCGGGGCTGCCCATGGTTTGGGCG GGGCTGCCCATGGTTTGGGCGGGGCTGCCCATGGTTTGGGCGGGGCTGCC CATGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01943.hp1 HG01952.hp1 others(10): Show HG01106.hp1 HG01943.hp1 HG01952.hp1 HG02109.hp1 HG02630.hp2 HG02738.hp2 HG02965.hp2 HG03130.hp1 HG03453.hp2 HG03471.hp1 HG06807.hp1 NA19007.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0023 a0001c0001t0030 a0001c0001t0040 a0001c0003t0001	a0001c0001t0001g0004 a0001c0001t0001g0032 a0001c0001t0001g0035 others(9): Show a0001c0001t0001g0004 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0138 a0001c0001t0001g0161 a0001c0001t0001g0167 a0001c0001t0004g0051 a0001c0001t0008g0163 a0001c0001t0023g0096 a0001c0001t0030g0154 a0001c0001t0040g0064 a0001c0003t0001g0037	13	328	0.0396	105	c.-18 others(114): Show c.-186_-185insACCATGGGCAGCCCCGCCCAAACCATGGGCAGCCCC GCCCAAACCATGGGCAGCCCCGCCCAAACCATGGGCAGCCCCGCCCAAAC CATGGGCAGCCCCGCCCAA		GRSF1	ENSG00000132463.15	transcript	ENST00000254799.11	protein_coding					123		chr4	TogoVar
GSDMD_chr8_143553346_143568062	143557312	A A	ATGACGAA others(98): Show ATGACGAAGGATGCTGCCGCTTTGGCGAAGGATGCTGCCGCTATGGCGAA GGATGATGCCGCTGTGACGACAGATGCTGCCGCTGTGACGACAGATGCTG CCGCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00558.hp2 others(88): Show HG00099.hp2 HG00408.hp1 HG00558.hp2 HG00597.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01099.hp2 HG01106.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01433.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01981.hp2 HG02004.hp2 HG02055.hp2 HG02132.hp1 HG02280.hp1 HG02486.hp1 HG02602.hp1 HG02622.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03669.hp2 HG03704.hp1 HG03831.hp2 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 NA18940.hp1 NA18943.hp2 NA18952.hp1 NA18954.hp2 NA18956.hp2 NA18957.hp1 NA18966.hp2 NA18974.hp1 NA18974.hp2 NA18987.hp1 NA18997.hp2 NA18998.hp1 NA19004.hp1 NA19007.hp2 NA19043.hp1 NA19054.hp1 NA19058.hp1 NA19065.hp2 NA19080.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0008 a0011 others(1): Show a0001 a0008 a0011 a0012	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0018 a0001c0025 a0008c0022 a0011c0024 a0012c0019	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(6): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0002 a0001c0018t0001 a0001c0025t0001 a0008c0022t0001 a0011c0024t0001 a0012c0019t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0042 a0001c0002t0001g0003 a0001c0002t0001g0008 a0001c0003t0001g0022 a0001c0004t0002g0007 a0001c0018t0001g0005 a0001c0025t0001g0002 a0008c0022t0001g0002 a0011c0024t0001g0045 a0012c0019t0001g0002	91	417	0.2182	105	c.-11 others(116): Show c.-1144_-1143insTGACGAAGGATGCTGCCGCTTTGGCGAAGGATGC TGCCGCTATGGCGAAGGATGATGCCGCTGTGACGACAGATGCTGCCGCTG TGACGACAGATGCTGCCGCTG		GSDMD	ENSG00000104518.11	transcript	ENST00000262580.9	protein_coding					1033		chr8	TogoVar
GSDMD_chr8_143553346_143568062	143557379	C C	CGAAGGAT others(98): Show CGAAGGATGCTGCCGCTATGATGAAGGATGATGCCGCTGTGACGACGGAT GCTGCCGCTGTGGCGAAGGATGCTGCCGCTGTGACGACGGATGCTGCCGC TATGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	417	0.0024	105	c.-10 others(116): Show c.-1077_-1076insGAAGGATGCTGCCGCTATGATGAAGGATGATGCC GCTGTGACGACGGATGCTGCCGCTGTGGCGAAGGATGCTGCCGCTGTGAC GACGGATGCTGCCGCTATGAT		GSDMD	ENSG00000104518.11	transcript	ENST00000262580.9	protein_coding					966		chr8	TogoVar
GTPBP6_chrX_299759_323796	323565	T T	TGTGTGTG others(98): Show TGTGTGTGTGTGTGTGTGTAGCCGTCAGTCTCCTGGGCTCCTGGGTTCCG TCTGCCCTGTTCATAGAGATGGAATGAGGGCGTCCCCAGGTGGTGAGCTC AGGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp2 NA19085.hp2 NA18941.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0036 a0001c0001t0002g0037 a0001c0001t0001g0036 a0001c0001t0002g0037	2	155	0.0129	105	c.-47 others(116): Show c.-4779_-4778insGTCCCTGAGCTCACCACCTGGGGACGCCCTCATT CCATCTCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGGAGACTGACG GCTACACACACACACACACAC		GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding					4770		chrX	TogoVar
GTPBP6_chrX_299759_323796	323567	T T	TGTGTGTG others(98): Show TGTGTGTGTGTGTGTGTGTAGCCGTCAATCTCCTGGGCTCCTGGGTTCCG TCTGCCCTGTTCATAGAGACAGAATGAGGGCGTCCCCAGGTGGTGAGCTC AGGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0020 a0004c0006t0001g0020	1	155	0.0065	105	c.-47 others(116): Show c.-4781_-4780insGTCCCTGAGCTCACCACCTGGGGACGCCCTCATT CTGTCTCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGGAGATTGACG GCTACACACACACACACACAC		GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding					4772		chrX	TogoVar
GUCY1A2_chr11_106669019_107023476	106710185	A A	ATAATAGT others(98): Show ATAATAGTTATATATATTATATACATGTATAAAGTATAGTTATATATAAT ATATACATGTATATAATATATAGTTATATATAATAGTTATATATATTATA TACATG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	256	0.0039	105	c.183 others(124): Show c.1837-1520_1837-1519insCATGTATATAATATATATAACTATTA TATATAACTATATATTATATACATGTATATATTATATATAACTATACTTT ATACATGTATATAATATATATAACTATTA		GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7						chr11	TogoVar
GYPE_chr4_143865864_143910559	143883550	T T	TTATAATT others(98): Show TTATAATTAATAATAACATGTAATTAATTATAAATTAATTTATAATTAAT AATAACATGTAATTAATTATAAATTAATAATTAATAATAACATGTAATTA ATTATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02723.hp1 HG02976.hp1 others(2): Show HG02055.hp1 HG02723.hp1 HG02976.hp1 NA18522.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0013 a0001c0001t0004 a0001c0001t0013	a0001c0001t0004g0016 a0001c0001t0004g0113 a0001c0001t0013g0099 a0001c0001t0004g0016 a0001c0001t0004g0113 a0001c0001t0013g0099	5	398	0.0126	105	c.38- others(120): Show c.38-3042_38-3041insTATAATTAATTACATGTTATTATTAATTAT TAATTTATAATTAATTACATGTTATTATTAATTATAAATTAATTTATAAT TAATTACATGTTATTATTAATTATA		GYPE	ENSG00000197465.14	transcript	ENST00000358615.9	protein_coding	1/3						chr4	TogoVar
GZMM_chr19_539053_554922	550576	C C	CCCGAAAA others(98): Show CCCGAAAACAGGCCCGTCCCCAGTCACCCCAGCACCCCGAAAACAGGCCC GTCCCCAGTCACCCCAGCACCCCGAAAACAGGCCCGTCCCCAGTCACCCC AGCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(227): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG03139.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18747.hp1 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18990.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0006 a0008 a0009 a0010 a0011	a0001c0001 a0001c0002 a0001c0006 others(10): Show a0001c0001 a0001c0002 a0001c0006 a0001c0012 a0001c0014 a0001c0022 a0002c0003 a0004c0008 a0006c0009 a0008c0017 a0009c0016 a0010c0018 a0011c0019	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0006t0001 a0001c0012t0001 a0001c0014t0001 a0001c0022t0001 a0002c0003t0001 a0004c0008t0001 a0006c0009t0001 a0008c0017t0001 a0009c0016t0001 a0010c0018t0001 a0011c0019t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(140): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0213 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0241 a0001c0001t0001g0249 a0001c0001t0003g0003 a0001c0001t0003g0174 a0001c0002t0001g0009 a0001c0002t0001g0017 a0001c0002t0001g0020 a0001c0002t0001g0026 a0001c0002t0001g0034 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0106 a0001c0002t0001g0117 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0126 a0001c0002t0001g0134 a0001c0002t0001g0141 a0001c0002t0001g0162 a0001c0002t0001g0176 a0001c0002t0001g0191 a0001c0002t0001g0207 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0222 a0001c0002t0002g0212 a0001c0006t0001g0201 a0001c0012t0001g0084 a0001c0012t0001g0085 a0001c0014t0001g0072 a0001c0022t0001g0132 a0002c0003t0001g0003 a0002c0003t0001g0183 a0004c0008t0001g0001 a0004c0008t0001g0023 a0004c0008t0001g0221 a0006c0009t0001g0001 a0006c0009t0001g0227 a0008c0017t0001g0049 a0009c0016t0001g0128 a0010c0018t0001g0001 a0011c0019t0001g0008	230	398	0.5779	105	c.78 others(114): Show c.785_*786insCCGAAAACAGGCCCGTCCCCAGTCACCCCAGCACCC CGAAAACAGGCCCGTCCCCAGTCACCCCAGCACCCCGAAAACAGGCCCGT CCCCAGTCACCCCAGCACT		GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding					655		chr19	TogoVar
HAP1_chr17_41717640_41739643	41730109	A A	AAAGAAAA others(98): Show AAAGAAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAG	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	374	0.0027	105	c.106 others(124): Show c.1069+1383_1069+1384insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTTCTTTCTTTTCTT		HAP1	ENSG00000173805.16	transcript	ENST00000347901.9	protein_coding	6/10						chr17	TogoVar
HBM_chr16_160978_171764	164718	C C	CGCGGTGC others(98): Show CGCGGTGCGGGCGGGGCGGGGCGGGGCCGCGGTGCGGGGCGGGGTCGCGG GGCGGGGTCGCGGGGCGGGGTCGCGGGGCGGGGTCGCGGGGCGGGGTCGC GGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	370	0.0027	105	c.-12 others(116): Show c.-1280_-1279insGCGGTGCGGGCGGGGCGGGGCGGGGCCGCGGTGC GGGGCGGGGTCGCGGGGCGGGGTCGCGGGGCGGGGTCGCGGGGCGGGGTC GCGGGGCGGGGTCGCGGGGCG		HBM	ENSG00000206177.7	transcript	ENST00000356815.4	protein_coding					1259		chr16	TogoVar
HCN2_chr19_584881_622159	605759	G G	GCGCCCCC others(98): Show GCGCCCCCTTATGGAGGGGAGGACTCGGGCCCTTACAGAGGCGGGGACCC AGGCGCCCCCTTATGGAGGGGAGGACACGGGCCCTTACAGAGGCGGGGAC CCAGGC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02257.hp2 HG02976.hp1 others(1): Show HG00621.hp2 HG02257.hp2 HG02976.hp1 HG03239.hp1	a0001 a0001	a0001c0006 a0001c0014 a0001c0101 a0001c0006 a0001c0014 a0001c0101	a0001c0006t0002 a0001c0014t0003 a0001c0101t0008 a0001c0006t0002 a0001c0014t0003 a0001c0101t0008	a0001c0006t0002g0027 a0001c0006t0002g0244 a0001c0014t0003g0096 others(1): Show a0001c0006t0002g0027 a0001c0006t0002g0244 a0001c0014t0003g0096 a0001c0101t0008g0024	4	408	0.0098	105	c.121 others(122): Show c.1218+554_1218+555insGAGGACTCGGGCCCTTACAGAGGCGGGG ACCCAGGCGCCCCCTTATGGAGGGGAGGACACGGGCCCTTACAGAGGCGG GGACCCAGGCCGCCCCCTTATGGAGGG		HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr19	TogoVar
HIGD1C_chr12_50947544_50975607	50948889	G G	GGGGAGGG others(98): Show GGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0025 a0001c0002t0002g0025	1	380	0.0026	105	c.-38 others(116): Show c.-3890_-3889insGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGG GAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAG GGGGAGGGGAGGGGGAGGGGA		HIGD1C	ENSG00000214511.4	transcript	ENST00000695931.1	protein_coding					3654		chr12	TogoVar
HIPK4_chr19_40374271_40395181	40377360	T T	TGGGGGGG others(98): Show TGGGGGGGCACAGGCAGAGGGGTCAGGGCTGGGATGGAGGAGGTACAGGC AGAGGGGTCAGGGCTGGGATGGAGGAGGTACAGGCAGAGGGGTCAGGGCT GGGATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	382	0.0026	105	c.22 others(116): Show c.2226_*2227insCATCCCAGCCCTGACCCCTCTGCCTGTACCTCCT CCATCCCAGCCCTGACCCCTCTGCCTGTACCTCCTCCATCCCAGCCCTGA CCCCTCTGCCTGTGCCCCCCC		HIPK4	ENSG00000160396.9	transcript	ENST00000291823.3	protein_coding					1910		chr19	TogoVar
HNRNPA3_chr2_177207794_177228959	177216348	G G	GAAATAAA others(98): Show GAAATAAACATACGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTC CGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAT AAAATA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0059 a0001c0001t0004g0059	1	332	0.0030	105	c.554 others(120): Show c.554-144_554-143insCGGAGCTTGCAGTGAGCCGAGATTGCGCCA CTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAATAAAATAAAATAAACATA		HNRNPA3	ENSG00000170144.22	transcript	ENST00000392524.7	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr2	TogoVar
HOPX_chr4_56642998_56686296	56685935	A A	ATATTGTA others(98): Show ATATTGTATTATATATAATGTATTATAATGTATTATATATAATGTATTAT ATATTATATAATGTATTATATATAATGTATTATATATTATATAATGTATT ATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	376	0.0027	105	c.-47 others(116): Show c.-4765_-4764insATATATAATACATTATATAATATATAATACATTA TATATAATACATTATATAATATATAATACATTATATATAATACATTATAA TACATTATATATAATACAATA		HOPX	ENSG00000171476.23	transcript	ENST00000420433.6	protein_coding					4640		chr4	TogoVar
HOXC8_chr12_54003985_54017769	54014000	T T	TTCTCTTC others(98): Show TTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTC TTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTCTCTCTCTCTCTCTCTCTC TCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0001 a0001c0001t0006g0001	1	306	0.0033	105	c.26 others(116): Show c.2619_*2620insTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTC TTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTCTCT CTCTCTCTCTCTCTCTCTCTC		HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding					1232		chr12	TogoVar
HRCT1_chr9_35901202_35912136	35906586	T T	TCCACCAC others(98): Show TCCACCACCACCACCACCACCACCACCACCCCCGCCACACCCCTCACCAC CTCCACCACCACCACCACCCCCACCACCACCCCCACCACACCCCTCACCA CCTCCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03710.hp1 HG03710.hp1	a0077 a0077	a0077c0081 a0077c0081	a0077c0081t0001 a0077c0081t0001	a0077c0081t0001g0000 a0077c0081t0001g0000	1	430	0.0023	105	c.316 others(112): Show c.316_317insACCACCACCACCCCCGCCACACCCCTCACCACCTCCAC CACCACCACCACCCCCACCACCACCCCCACCACACCCCTCACCACCTCCA CCACCACCACCACCACC	p.His others(118): Show p.His105_Pro106insHisHisHisHisProArgHisThrProHisHi sLeuHisHisHisHisHisProHisHisHisProHisHisThrProHisH isLeuHisHisHisHisHisHis	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	403/935	317/348	106/115		INFO_REALIGN_3_PRIME	chr9	TogoVar
IFNAR1_chr21_33319970_33364864	33322587	A A	ATGGTATA others(98): Show ATGGTATATATATATGGAATATATATATATGGTATATATATATGGAATAT ATATATATGGAATACAAATATACGGAATATATATATGGAATACATATATA CGGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0221 a0002c0004t0002g0221	1	323	0.0031	105	c.-24 others(116): Show c.-2469_-2468insTGGTATATATATATGGAATATATATATATGGTAT ATATATATGGAATATATATATATGGAATACAAATATACGGAATATATATA TGGAATACATATATACGGAAT		IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding					2382		chr21	TogoVar
IFNGR1_chr6_137192485_137224385	137199528	A A	AATATATA others(98): Show AATATATAATAAATTATATATTATATATAATATATAATATATTATATATT ATATATAATATATAATTTATAATATATTATATATAATATATAATATATTA TATATT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	390	0.0026	105	c.862 others(120): Show c.862-890_862-889insAATATATAATATATTATATATTATATATAA TATATTATAAATTATATATTATATATAATATATAATATATTATATATTAT ATATAATATATAATTTATTATATAT		IFNGR1	ENSG00000027697.16	transcript	ENST00000367739.9	protein_coding	6/6						chr6	TogoVar
IFNGR1_chr6_137192485_137224385	137199528	A A	AATATATA others(98): Show AATATATAATATATTATAAATTATATATTATATATAATATATTATATATT ATATATAATATATAATTTATAATATATTATATATAATATATAATTTATAA TATATT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02896.hp1 HG02897.hp2 others(1): Show HG02572.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0004 a0002c0006t0002 a0002c0006t0004	a0002c0006t0002g0035 a0002c0006t0002g0096 a0002c0006t0004g0097 a0002c0006t0002g0035 a0002c0006t0002g0096 a0002c0006t0004g0097	4	390	0.0103	105	c.862 others(120): Show c.862-890_862-889insAATATATTATAAATTATATATTATATATAA TATATTATAAATTATATATTATATATAATATATAATATATTATATATAAT ATATAATTTATAATATATTATATAT		IFNGR1	ENSG00000027697.16	transcript	ENST00000367739.9	protein_coding	6/6						chr6	TogoVar
IFNGR1_chr6_137192485_137224385	137199528	A A	AATATATA others(98): Show AATATATAATATATTATATATAATATATAATATATAATATATTATATATT ATATATAATATATAATTTATAATATATTATATATAATATATAATATATTA TATATT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0211 a0001c0009t0001g0211	1	390	0.0026	105	c.862 others(120): Show c.862-890_862-889insAATATATAATATATTATATATTATATATAA TATATTATAAATTATATATTATATATAATATATAATATATTATATATTAT ATATTATATATAATATATTATATAT		IFNGR1	ENSG00000027697.16	transcript	ENST00000367739.9	protein_coding	6/6						chr6	TogoVar
IFNGR1_chr6_137192485_137224385	137199528	A A	AATATATA others(98): Show AATATATAATATATTATATATTATATATAATATATAATATATAATATATT ATATATAATATATAATTTATAATATATTATATATAATATATAATATATTA TATATT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	390	0.0026	105	c.862 others(120): Show c.862-890_862-889insAATATATAATATATTATATATTATATATAA TATATTATAAATTATATATTATATATAATATATTATATATTATATATTAT ATATAATATATAATATATTATATAT		IFNGR1	ENSG00000027697.16	transcript	ENST00000367739.9	protein_coding	6/6						chr6	TogoVar
IFNGR1_chr6_137192485_137224385	137199528	A A	AATATATA others(98): Show AATATATAATATATTATATATTATATATAATATATAATATATTATATATA ATATATAATATATAATTTATAATATATTATATATAATATATAATTTATAA TATATT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03225.hp1 HG02809.hp2 HG03225.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0036 a0004c0008t0001g0036	2	390	0.0051	105	c.862 others(120): Show c.862-890_862-889insAATATATTATAAATTATATATTATATATAA TATATTATAAATTATATATTATATATTATATATAATATATTATATATTAT ATATAATATATAATATATTATATAT		IFNGR1	ENSG00000027697.16	transcript	ENST00000367739.9	protein_coding	6/6						chr6	TogoVar
IFNGR1_chr6_137192485_137224385	137199528	A A	AATATATA others(98): Show AATATATAATATATTATATATTATATATAATATATAATATATTATATATT ATATATAATATATAATTTATAATATATTATATATAATATATAATATATTA TATATT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp1 HG00738.hp2 others(42): Show HG00099.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp2 HG01243.hp1 HG01257.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01515.hp1 HG01928.hp2 HG01943.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02040.hp2 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02735.hp1 HG02818.hp1 HG03017.hp1 HG03130.hp2 HG03209.hp2 HG03239.hp2 HG03491.hp1 HG03492.hp1 HG03654.hp1 HG03669.hp1 HG03704.hp2 HG03927.hp2 NA18947.hp1 NA18981.hp2 NA18987.hp2 NA19004.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp2 NA19076.hp1 NA19082.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0014 a0001c0001 a0001c0009 a0001c0014	a0001c0001t0001 a0001c0001t0002 a0001c0009t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0009t0001 a0001c0014t0001	a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0018 others(16): Show a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0041 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0165 a0001c0001t0001g0176 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0199 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0002g0070 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0009t0001g0197 a0001c0014t0001g0198	45	390	0.1154	105	c.862 others(120): Show c.862-890_862-889insAATATATAATATATTATATATTATATATAA TATATTATAAATTATATATTATATATAATATATAATATATTATATATTAT ATATAATATATAATATATTATATAT		IFNGR1	ENSG00000027697.16	transcript	ENST00000367739.9	protein_coding	6/6						chr6	TogoVar
IFNGR1_chr6_137192485_137224385	137199528	A A	AATATATA others(98): Show AATATATAATATATTATATATTATATATAATATATAATTTATAATATATT ATATATAATATATAATATATTATATATTATATATAATATATAATATATTA TATATT	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA18612.hp2 HG03579.hp1 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0182 a0001c0001t0002g0065 a0001c0001t0001g0182 a0001c0001t0002g0065	2	390	0.0051	105	c.862 others(120): Show c.862-890_862-889insAATATATAATATATTATATATTATATATAA TATATAATATATTATATATTATATATAATATATTATAAATTATATATTAT ATATAATATATAATATATTATATAT		IFNGR1	ENSG00000027697.16	transcript	ENST00000367739.9	protein_coding	6/6						chr6	TogoVar
IFNGR1_chr6_137192485_137224385	137199528	A A	AATATATA others(98): Show AATATATAATATATTATATATTATATATAATATATAATTTATTATATATT ATATATAATATATAATTTATTATATATTATATATAATATATAATTTATTA TATATT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02257.hp2 HG01884.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0112 a0001c0001t0002g0113	2	390	0.0051	105	c.862 others(120): Show c.862-890_862-889insAATATATAATAAATTATATATTATATATAA TATATAATAAATTATATATTATATATAATATATAATAAATTATATATTAT ATATAATATATAATATATTATATAT		IFNGR1	ENSG00000027697.16	transcript	ENST00000367739.9	protein_coding	6/6						chr6	TogoVar

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