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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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
SKI_chr1_2223319_2315213	2281730	C C	CGCCTGAG others(37): Show CGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	330	0.0030	44	c.970 others(63): Show c.970-21245_970-21244insTGAGAAGACAGGCGGTGGCGGAGATC TTCAGAGAGAGAGATGCC	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281747	G G	GGTGGCGG others(37): Show GGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0096 a0001c0001t0010g0096	1	330	0.0030	44	c.970 others(63): Show c.970-21208_970-21207insAGATGCCCGAGAAGACAGGCAGTGGC GGAGATCTTCAGAGAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281770	G G	GGACGCCC others(37): Show GGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	330	0.0030	44	c.970 others(63): Show c.970-21165_970-21164insAGACGCCCGAGAAGACAGGCGGTGGC GGAGATCTTCAGAGAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281773	C C	CGCCCGAG others(37): Show CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0028 a0001c0001t0018g0028	1	330	0.0030	44	c.970 others(63): Show c.970-21165_970-21164insAGATGCCCGAGAAGACAGGCGGTGGC GGAGATCTTCAGAGAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281816	C C	CGCCCGAG others(37): Show CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02622.hp1 NA18959.hp1 others(1): Show HG02273.hp1 HG02622.hp1 NA18959.hp1 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0012 others(1): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0012 a0001c0001t0026	a0001c0001t0004g0248 a0001c0001t0008g0196 a0001c0001t0012g0155 others(1): Show a0001c0001t0004g0248 a0001c0001t0008g0196 a0001c0001t0012g0155 a0001c0001t0026g0295	4	330	0.0121	44	c.970 others(63): Show c.970-21154_970-21153insAGACAGGCGGTGGCGGAGATCTTCAG AGAGAGAGATGCCCGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281841	A A	AGATCTTC others(37): Show AGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGCGGCGGC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0326 a0001c0001t0002g0326	1	330	0.0030	44	c.970 others(63): Show c.970-21122_970-21121insAGATGCCCGAGAAGACAGGCGGCGGC GGCGATCTTCAGAGAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281859	C C	CACCTGAG others(37): Show CACCTGAGAAGACAGGCGGTGGTGGAGATCTTCAGAGAGAGAGAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0223 a0001c0001t0019g0223	1	330	0.0030	44	c.970 others(63): Show c.970-21119_970-21118insACCTGAGAAGACAGGCGGTGGTGGAG ATCTTCAGAGAGAGAGAT	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6			chr1	TogoVar
SKI_chr1_2223319_2315213	2281859	C C	CGCCTGAG others(37): Show CGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0164 a0001c0001t0010g0164	1	330	0.0030	44	c.970 others(63): Show c.970-21116_970-21115insTGAGAAGACAGGCGGTGGCGGAGATC TTCAGAGAGAGAGATGCC	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281902	C C	CGCCCGAG others(37): Show CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT	intron_variant intron_variant	MODIFIER	HG03688.hp1 NA18971.hp1 NA19057.hp2 HG03688.hp1 NA18971.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0018 a0001c0001t0003 a0001c0001t0008 a0001c0001t0018	a0001c0001t0003g0273 a0001c0001t0008g0042 a0001c0001t0018g0028 a0001c0001t0003g0273 a0001c0001t0008g0042 a0001c0001t0018g0028	3	330	0.0091	44	c.970 others(63): Show c.970-21068_970-21067insAGACAGGCGGTGGCGGAGATCTTCAG AGAGAGAGATGCCCGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281902	C C	CGCCTGAG others(37): Show CGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0074 a0001c0001t0070g0074	1	330	0.0030	44	c.970 others(63): Show c.970-21073_970-21072insTGAGAAGACAGGCGGTGGCGGAGATC TTCAGAGAGAGAGATGCC	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281945	C C	CGCCCGAG others(37): Show CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0323 a0001c0001t0001g0323	1	330	0.0030	44	c.970 others(63): Show c.970-21030_970-21029insCGAGAAGACAGGCGGTGGCGGAGATC TTCAGAGAGAGAGATGCC	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282010	C C	CGGAGATC others(37): Show CGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0138 a0001c0001t0061g0138	1	330	0.0030	44	c.970 others(63): Show c.970-20950_970-20949insAGATGCCCGAGAAGACAGGCGGTGGT GGAGATCTTCAGAGAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282013	A A	AGATCTTC others(37): Show AGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGC	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0231 a0001c0001t0083g0231	1	330	0.0030	44	c.970 others(63): Show c.970-20950_970-20949insAGATGCCCGAGAAGACAGGCGGTGGC GGCGATCTTCAGAGAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282031	C C	CACGTGAG others(37): Show CACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0045 a0001c0001t0003g0045	1	330	0.0030	44	c.970 others(63): Show c.970-20947_970-20946insACGTGAGAAGACAGGCGGTGGCGGAG ATCTTCAGAGAGAGAGAT	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6			chr1	TogoVar
SKI_chr1_2223319_2315213	2282031	C C	CGCCTGAG others(37): Show CGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0322 a0001c0001t0002g0322	1	330	0.0030	44	c.970 others(63): Show c.970-20944_970-20943insTGAGAAGACAGGCGGTGGCGGAGATC TTCAGAGAGAGAGATGCC	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282183	C C	CGGAGATC others(37): Show CGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0007 a0001c0001t0052g0007	1	330	0.0030	44	c.970 others(63): Show c.970-20777_970-20776insAGATGCCCGAGAAGACAGGCGGTGGT GGAGATCTTCAGAGAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282204	C C	CGCCCGAG others(37): Show CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01256.hp2 HG01515.hp1 others(3): Show HG01081.hp2 HG01256.hp2 HG01515.hp1 HG01975.hp2 HG02165.hp2 HG03239.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0015 a0001c0001 a0002c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0015t0002	a0001c0001t0001g0110 a0001c0001t0002g0124 a0001c0001t0003g0213 others(3): Show a0001c0001t0001g0110 a0001c0001t0002g0124 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0217 a0002c0015t0002g0185	6	330	0.0182	44	c.970 others(63): Show c.970-20771_970-20770insCGAGAAGACAGGCGGTGGCGGAGATC TTCAGAGAGAGAGATGCC	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282208	T T	TGAGAAGA others(37): Show TGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0098 a0001c0001t0007g0098	1	330	0.0030	44	c.970 others(63): Show c.970-20734_970-20733insAGATGCCCGAGAAGACAGGCGGTGGC GGAGATCTTCAGAGAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282226	C C	CGGAGATC others(37): Show CGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	330	0.0030	44	c.970 others(63): Show c.970-20734_970-20733insAGATGCCCGAGAAGACAGGCGGTGGT GGAGATCTTCAGAGAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282247	C C	CGCCCGAG others(37): Show CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0040 a0001c0006t0040	a0001c0006t0040g0053 a0001c0006t0040g0053	1	330	0.0030	44	c.970 others(63): Show c.970-20691_970-20690insAGATGCCCGAGAAGACAGGCGGTGGC GGAGATCTTCAGAGAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282247	C C	CGCCTGAG others(37): Show CGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp2 NA19084.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0191 a0001c0001t0008g0107 a0001c0001t0003g0191 a0001c0001t0008g0107	2	330	0.0061	44	c.970 others(63): Show c.970-20728_970-20727insTGAGAAGACAGGCGGTGGCGGAGATC TTCAGAGAGAGAGATGCC	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282290	C C	CGCCCGAG others(37): Show CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	330	0.0030	44	c.970 others(63): Show c.970-20685_970-20684insCGAGAAGACAGGCGGTGGCGGAGATC TTCAGAGAGAGAGATGCC	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282294	T T	TGAGAAGA others(37): Show TGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0106	1	330	0.0030	44	c.970 others(63): Show c.970-20648_970-20647insAGATGCCCGAGAAGACAGGCGGTGGC GGAGATCTTCAGAGAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282333	C C	CGCCTGAG others(37): Show CGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0086 a0001c0001t0007g0086	1	330	0.0030	44	c.970 others(63): Show c.970-20642_970-20641insTGAGAAGACAGGCGGTGGCGGAGATC TTCAGAGAGAGAGATGCC	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282355	C C	CGGAGATC others(37): Show CGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0041 a0001c0001t0008g0041	1	330	0.0030	44	c.970 others(63): Show c.970-20605_970-20604insAGATGCCCGAGAAGACAGGCGGTGGT GGAGATCTTCAGAGAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282376	C C	CGCCCGAG others(37): Show CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02074.hp1 HG02300.hp2 others(3): Show HG02015.hp2 HG02074.hp1 HG02300.hp2 NA18962.hp2 NA19000.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0072	a0001c0001t0001g0125 a0001c0001t0001g0148 a0001c0001t0002g0084 others(3): Show a0001c0001t0001g0125 a0001c0001t0001g0148 a0001c0001t0002g0084 a0001c0001t0002g0247 a0001c0001t0007g0162 a0001c0001t0072g0200	6	330	0.0182	44	c.970 others(63): Show c.970-20562_970-20561insAGATGCCCGAGAAGACAGGCGGTGGC GGAGATCTTCAGAGAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282376	C C	CGCCTGAG others(37): Show CGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0322 a0001c0001t0002g0322	1	330	0.0030	44	c.970 others(63): Show c.970-20599_970-20598insTGAGAAGACAGGCGGTGGCGGAGATC TTCAGAGAGAGAGATGCC	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2289589	G G	GGGTGCAG others(37): Show GGGTGCAGGGCAGGGCAGGAGAACCAAGATCGTGGGGGTGGGGGA	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0073 a0001c0001t0073	a0001c0001t0073g0216 a0001c0001t0073g0216	1	330	0.0030	44	c.970 others(63): Show c.970-13388_970-13387insGTGCAGGGCAGGGCAGGAGAACCAAG ATCGTGGGGGTGGGGGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2309780	G G	GCCCCCCC others(37): Show GCCCCCCCCCCACCCCCTCCTCCCTGTGGGTCCGAACCCCGGCCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0082 a0001c0001t0053g0082	1	330	0.0030	44	c.30 others(55): Show c.3023_*3024insCCACCCCCTCCTCCCTGTGGGTCCGAACCCCGGC CCCCCCCCCC	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	7/7	3024	INFO_REALIGN_3_PRIME	chr1	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACACACA others(37): Show TACACACACACACACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0293	1	360	0.0028	44	c.47 others(55): Show c.4709_*4710insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACATACA others(37): Show TACATACATACATACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	360	0.0028	44	c.47 others(55): Show c.4709_*4710insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAT GTATGTATGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACATACA others(37): Show TACATACATACATATACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 NA19056.hp1 HG01433.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0269 a0001c0001t0001g0257 a0001c0001t0001g0269	2	360	0.0056	44	c.47 others(55): Show c.4709_*4710insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATAT GTATGTATGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLAMF8_chr1_159821873_159842492	159837224	T T	TCTAATAA others(37): Show TCTAATAAAGTTCCCATCCTTAATGACTCACTTGTCAACTAGTGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0024 a0001c0001t0015g0024	1	476	0.0021	44	c.19 others(55): Show c.1965_*2008dupCTAATAAAGTTCCCATCCTTAATGACTCACTTGT CAACTAGTGG	SLAMF8	ENSG00000158714.11	transcript	ENST00000289707.10	protein_coding	5/5	2009	INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC12A7_chr5_1045384_1117063	1064859	C C	CGAGGAGA others(37): Show CGAGGAGACGGCGAGGGGACAGCGAGGGGACGGCGAGGAGACGGT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0007 a0007	a0007c0033 a0007c0033	a0007c0033t0004 a0007c0033t0004	a0007c0033t0004g0072 a0007c0033t0004g0072	1	118	0.0085	44	c.243 others(61): Show c.2437+423_2437+424insACCGTCTCCTCGCCGTCCCCTCGCTGTC CCCTCGCCGTCTCCTC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	18/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070291	C C	CGGGCATC others(37): Show CGGGCATCACACTTAACGCAGCCCCCAGTGAGCCCCCAGCACACG	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0010 a0002c0016t0010	a0002c0016t0010g0082 a0002c0016t0010g0082	1	118	0.0085	44	c.224 others(63): Show c.2241+3341_2241+3342insCGTGTGCTGGGGGCTCACTGGGGGCT GCGTTAAGTGTGATGCCC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070650	G G	GCCCCCAG others(37): Show GCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTAACGCAGC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0062 a0002c0008t0002g0062	1	118	0.0085	44	c.224 others(63): Show c.2241+2982_2241+2983insGCTGCGTTAAGTGTGATGCCCGTGTG CTGGGGGCTCACTGGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070806	C C	CGGGCATC others(37): Show CGGGCATCACACTTAACGCAGCCCCCAGTGAGCCCCCAGCACACG	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19091.hp1 NA19074.hp1 NA19091.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0099 a0002c0002t0008g0100 a0002c0002t0008g0099 a0002c0002t0008g0100	2	118	0.0170	44	c.224 others(63): Show c.2241+2826_2241+2827insCGTGTGCTGGGGGCTCACTGGGGGCT GCGTTAAGTGTGATGCCC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071033	G G	GCCCCCAG others(37): Show GCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTAACGCAGC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0057 a0002c0016t0001g0057	1	118	0.0085	44	c.224 others(63): Show c.2241+2599_2241+2600insGCTGCGTTAAGTGTGATGCCCGTGTG CTGGGGGCTCACTGGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071074	G G	GCCCCCAG others(37): Show GCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTAACGCAGC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0003 a0002c0012t0003	a0002c0012t0003g0075 a0002c0012t0003g0075	1	118	0.0085	44	c.224 others(63): Show c.2241+2558_2241+2559insGCTGCGTTAAGTGTGATGCCCGTGTG CTGGGGGCTCACTGGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071352	C C	CGGGCATC others(37): Show CGGGCATCACACTTAACGCAGCCCCCAGTGAGCCCCCAGCACACG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0001 a0001c0032t0001	a0001c0032t0001g0111 a0001c0032t0001g0111	1	118	0.0085	44	c.224 others(63): Show c.2241+2280_2241+2281insCGTGTGCTGGGGGCTCACTGGGGGCT GCGTTAAGTGTGATGCCC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1096675	A A	AGAAAGGA others(37): Show AGAAAGGAGGGAGGGGGGAAGGGAGGGAAGGAAGGAGGGAGGAAG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0006 a0001c0009t0006	a0001c0009t0006g0064 a0001c0009t0006g0064	1	118	0.0085	44	c.125 others(61): Show c.125-2471_125-2428dupCTTCCTCCCTCCTTCCTTCCCTCCCTTC CCCCCTCCCTCCTTTC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC13A3_chr20_46552828_46656459	46632910	T T	TAGATAGA others(37): Show TAGATAGATAGATAGACAGACAGATAGCTCTTTATCTACCCACCC	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18948.hp2 HG02056.hp1 NA18948.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0002 a0001c0006t0007 a0001c0002t0002 a0001c0006t0007	a0001c0002t0002g0058 a0001c0006t0007g0283 a0001c0002t0002g0058 a0001c0006t0007g0283	2	390	0.0051	44	c.111 others(63): Show c.111+18400_111+18401insGGGTGGGTAGATAAAGAGCTATCTGT CTGTCTATCTATCTATCT	SLC13A3	ENSG00000158296.14	transcript	ENST00000279027.9	protein_coding	1/12			chr20	TogoVar
SLC13A3_chr20_46552828_46656459	46632911	A A	AGACAGAC others(37): Show AGACAGACAGATAGCTCTTTATCTACCCACCCAGATCTATCTATC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0011 a0001c0002t0002g0011	1	390	0.0026	44	c.111 others(63): Show c.111+18399_111+18400insGATAGATAGATCTGGGTGGGTAGATA AAGAGCTATCTGTCTGTC	SLC13A3	ENSG00000158296.14	transcript	ENST00000279027.9	protein_coding	1/12			chr20	TogoVar
SLC13A3_chr20_46552828_46656459	46632911	A A	AGATAGAC others(37): Show AGATAGACAGACAGATAGCTCTTTATCTACCCACCCAGATCTATC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03239.hp2 NA18995.hp2 HG03098.hp2 HG03239.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0273 a0001c0001t0001g0317 a0001c0006t0001g0101 a0001c0001t0001g0273 a0001c0001t0001g0317 a0001c0006t0001g0101	3	390	0.0077	44	c.111 others(63): Show c.111+18399_111+18400insGATAGATCTGGGTGGGTAGATAAAGA GCTATCTGTCTGTCTATC	SLC13A3	ENSG00000158296.14	transcript	ENST00000279027.9	protein_coding	1/12			chr20	TogoVar
SLC13A3_chr20_46552828_46656459	46632911	A A	AGATAGAT others(37): Show AGATAGATAGACAGACAGATAGCTCTTTATCTACCCACCCAGATC	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA19088.hp2 HG01934.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0069 a0001c0002t0002g0340 a0001c0002t0002g0069 a0001c0002t0002g0340	2	390	0.0051	44	c.111 others(63): Show c.111+18399_111+18400insGATCTGGGTGGGTAGATAAAGAGCTA TCTGTCTGTCTATCTATC	SLC13A3	ENSG00000158296.14	transcript	ENST00000279027.9	protein_coding	1/12			chr20	TogoVar
SLC14A2_chr18_45610476_45688688	45645619	A A	ATATATAC others(37): Show ATATATACATATATATATATATATATACATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02647.hp1 HG02723.hp1 others(5): Show HG01109.hp2 HG02647.hp1 HG02723.hp1 HG02895.hp2 HG02976.hp1 HG03209.hp1 NA19030.hp2 NA19043.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0001 a0003c0005 a0001c0002 a0002c0001 a0003c0005	a0001c0002t0004 a0002c0001t0002 a0002c0001t0008 others(1): Show a0001c0002t0004 a0002c0001t0002 a0002c0001t0008 a0003c0005t0007	a0001c0002t0004g0143 a0001c0002t0004g0310 a0002c0001t0002g0155 others(4): Show a0001c0002t0004g0143 a0001c0002t0004g0310 a0002c0001t0002g0155 a0002c0001t0008g0217 a0003c0005t0007g0007 a0003c0005t0007g0154 a0003c0005t0007g0297	8	402	0.0199	44	c.135 others(63): Show c.1351+1463_1351+1464insTACATATATATATATATATATACATA TATATATATATATTTATA	SLC14A2	ENSG00000132874.15	transcript	ENST00000255226.11	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr18	TogoVar
SLC14A2_chr18_45610476_45688688	45645619	A A	ATATATAC others(37): Show ATATATACATATATATATATATATATATACATATATATATATATT	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0240 a0002c0001t0002g0240	1	402	0.0025	44	c.135 others(63): Show c.1351+1463_1351+1464insTACATATATATATATATATATATACA TATATATATATATTTATA	SLC14A2	ENSG00000132874.15	transcript	ENST00000255226.11	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr18	TogoVar
SLC16A2_chrX_74416493_74538916	74435515	A A	ATATATAT others(37): Show ATATATATATGCATATATATGTGTATATATATATGCATATATATG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00639.hp1 others(58): Show HG00140.hp1 HG00408.hp2 HG00639.hp1 HG01070.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01516.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG02080.hp1 HG02145.hp1 HG02257.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02647.hp1 HG02698.hp1 HG02723.hp1 HG02738.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03490.hp1 HG03516.hp1 HG03654.hp1 HG03669.hp1 HG03704.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04184.hp2 HG04204.hp1 NA18522.hp1 NA19086.hp1 NA20752.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0006 a0001c0001 a0002c0002 a0004c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0001t0013 a0002c0002t0001 a0002c0002t0002 a0002c0002t0016 a0004c0006t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(58): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0050 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0110 a0001c0001t0001g0121 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0207 a0001c0001t0001g0219 a0001c0001t0004g0122 a0001c0001t0004g0123 a0001c0001t0012g0139 a0001c0001t0013g0135 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0012 a0002c0002t0001g0014 a0002c0002t0001g0016 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0095 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0103 a0002c0002t0001g0105 a0002c0002t0002g0055 a0002c0002t0016g0049 a0004c0006t0001g0137	61	235	0.2596	44	c.430 others(63): Show c.430+13467_430+13468insGTGTATATATATATGCATATATATGT ATATATATGCATATATAT	SLC16A2	ENSG00000147100.11	transcript	ENST00000587091.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
SLC16A2_chrX_74416493_74538916	74435527	A A	ATATATAT others(37): Show ATATATATGTGTATATATATATGCATATATATGTATATATATGCG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0056 a0002c0002t0001g0056	1	235	0.0043	44	c.430 others(63): Show c.430+13467_430+13468insGTGTATATATATATGCATATATATGT ATATATATGCGTATATAT	SLC16A2	ENSG00000147100.11	transcript	ENST00000587091.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
SLC16A2_chrX_74416493_74538916	74439158	C C	CTCTTTCT others(37): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00609.hp1 HG01952.hp1 others(22): Show HG00408.hp1 HG00609.hp1 HG01952.hp1 HG01978.hp1 HG02080.hp2 HG02132.hp1 HG02135.hp1 NA18943.hp1 NA18965.hp1 NA18977.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18990.hp1 NA19000.hp1 NA19004.hp1 NA19009.hp1 NA19011.hp1 NA19012.hp1 NA19063.hp1 NA19082.hp1 NA19083.hp1 NA19088.hp1 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0008 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0008 a0002c0002t0001 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0087 a0001c0001t0001g0127 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0087 a0001c0001t0001g0127 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0208 a0001c0001t0001g0215 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0008g0163 a0002c0002t0001g0065 a0003c0004t0001g0158	25	235	0.1064	44	c.430 others(63): Show c.430+17120_430+17121insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTT	SLC16A2	ENSG00000147100.11	transcript	ENST00000587091.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chrX	TogoVar

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