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
BIRC2_chr11_102342214_102383670	102342382	A A	ATATATAT others(7): Show ATATATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	344	0.0029	14	c.-62 others(25): Show c.-6252_-6251insTATATATATATATG	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding		4831		chr11	TogoVar
BIRC2_chr11_102342214_102383670	102360784	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTGT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01255.hp1 HG02698.hp2 others(2): Show HG01109.hp1 HG01255.hp1 HG02698.hp2 HG03927.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 others(2): Show a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0008g0279	5	344	0.0145	14	c.996 others(31): Show c.996-2101_996-2100insTGTTTTTTTTTTTT	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC2_chr11_102342214_102383670	102364139	T T	TTATATAT others(7): Show TTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02738.hp2 HG03098.hp1 others(4): Show HG02559.hp2 HG02738.hp2 HG03098.hp1 HG04184.hp1 NA18994.hp2 NA18995.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0045 a0001c0001t0001g0063 a0001c0001t0001g0083 others(4): Show a0001c0001t0001g0045 a0001c0001t0001g0063 a0001c0001t0001g0083 a0001c0001t0001g0102 a0001c0001t0001g0203 a0001c0001t0001g0244 a0001c0001t0003g0121	7	344	0.0204	14	c.112 others(31): Show c.1123+446_1123+459dupTATATATATATATA	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC2_chr11_102342214_102383670	102364172	T T	TATATATA others(7): Show TATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	344	0.0029	14	c.112 others(31): Show c.1123+459_1123+460insTATATATATACATA	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC2_chr11_102342214_102383670	102364174	T T	TATATATA others(7): Show TATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01975.hp1 HG02293.hp2 others(2): Show HG01934.hp1 HG01975.hp1 HG02293.hp2 HG03130.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0135 a0001c0001t0001g0170 others(2): Show a0001c0001t0001g0064 a0001c0001t0001g0135 a0001c0001t0001g0170 a0001c0001t0001g0260 a0001c0001t0001g0269	5	344	0.0145	14	c.112 others(31): Show c.1123+459_1123+460insTATATATATATACA	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC3_chr11_102312484_102344403	102342340	G G	GTGTATTT others(7): Show GTGTATTTATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG01981.hp1 NA18955.hp1 others(2): Show HG00280.hp2 HG01981.hp1 NA18955.hp1 NA19000.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0001t0001 a0001c0001t0004 a0001c0002t0001	a0001c0001t0001g0006 a0001c0001t0004g0063 a0001c0002t0001g0029 others(2): Show a0001c0001t0001g0006 a0001c0001t0004g0063 a0001c0002t0001g0029 a0001c0002t0001g0039 a0001c0002t0001g0106	5	384	0.0130	14	c.52 others(25): Show c.5238_*5239insTGTATTTATATATA	BIRC3	ENSG00000023445.17	transcript	ENST00000263464.9	protein_coding		2938		chr11	TogoVar
BIRC3_chr11_102312484_102344403	102342344	G G	GTATATGT others(7): Show GTATATGTATGTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01943.hp1 HG01167.hp2 HG01169.hp2 HG01943.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0007 a0002c0003t0003g0007	3	384	0.0078	14	c.52 others(25): Show c.5242_*5243insTATATGTATGTATA	BIRC3	ENSG00000023445.17	transcript	ENST00000263464.9	protein_coding		2942		chr11	TogoVar
BIRC3_chr11_102312484_102344403	102342382	A A	ATATATAT others(7): Show ATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	384	0.0026	14	c.52 others(25): Show c.5280_*5281insTATATATATATATG	BIRC3	ENSG00000023445.17	transcript	ENST00000263464.9	protein_coding		2980		chr11	TogoVar
BIRC6_chr2_32352023_32623878	32377213	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0035 a0001c0003t0003g0035	1	274	0.0037	14	c.326 others(29): Show c.326-351_326-338dupGTGTGTGTGTGTGT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	1/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32397574	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02922.hp2 HG02451.hp2 HG02922.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0007 a0001c0007t0004 a0001c0007t0007	a0001c0007t0004g0022 a0001c0007t0007g0021 a0001c0007t0004g0022 a0001c0007t0007g0021	2	274	0.0073	14	c.103 others(33): Show c.1034+1999_1034+2012dupGTGTGTGTGTGTGT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	6/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32431181	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 NA19010.hp2 HG01099.hp1 NA19010.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0022 a0001c0001 a0002c0022	a0001c0001t0001 a0002c0022t0002 a0001c0001t0001 a0002c0022t0002	a0001c0001t0001g0242 a0002c0022t0002g0054 a0001c0001t0001g0242 a0002c0022t0002g0054	2	274	0.0073	14	c.324 others(31): Show c.3248+110_3248+123dupTTTTTTTTTTTTTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	12/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32448652	T T	TGGAGAGG others(7): Show TGGAGAGGGGAGAGG	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA19085.hp2 HG06807.hp2 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0002c0002 a0001c0007 a0002c0002	a0001c0007t0006 a0002c0002t0001 a0001c0007t0006 a0002c0002t0001	a0001c0007t0006g0185 a0002c0002t0001g0210 a0001c0007t0006g0185 a0002c0002t0001g0210	2	274	0.0073	14	c.448 others(31): Show c.4485-120_4485-107dupGAGAGGGGAGAGGG	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	21/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32460272	A A	ATATATAT others(7): Show ATATATATATATTTT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0164 a0002c0002t0003g0164	1	274	0.0037	14	c.475 others(33): Show c.4754-2921_4754-2920insATATATATATTTTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32460272	A A	ATATATAT others(7): Show ATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0002 a0002	a0002c0033 a0002c0033	a0002c0033t0002 a0002c0033t0002	a0002c0033t0002g0057 a0002c0033t0002g0057	1	274	0.0037	14	c.475 others(33): Show c.4754-2921_4754-2920insATATATATTTTTTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32461161	T T	TCCCCCTC others(7): Show TCCCCCTCCCCTCTC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0003 a0003c0017t0003	a0003c0017t0003g0135 a0003c0017t0003g0135	1	274	0.0037	14	c.475 others(33): Show c.4754-2029_4754-2028insCTCCCCTCTCCCCC	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32461185	T T	TCCCCTCC others(7): Show TCCCCTCCCCTCCCC	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	274	0.0037	14	c.475 others(33): Show c.4754-1999_4754-1998insCCCCCCCCTCCCCT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32461343	A A	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02615.hp1 HG02622.hp1 HG02145.hp2 HG02615.hp1 HG02622.hp1	a0001 a0001	a0001c0010 a0001c0013 a0001c0010 a0001c0013	a0001c0010t0002 a0001c0013t0003 a0001c0010t0002 a0001c0013t0003	a0001c0010t0002g0051 a0001c0013t0003g0036 a0001c0013t0003g0153 a0001c0010t0002g0051 a0001c0013t0003g0036 a0001c0013t0003g0153	3	274	0.0110	14	c.475 others(33): Show c.4754-1824_4754-1811dupGTGTGTGTGTGTGT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32504034	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01934.hp2 HG01346.hp1 HG01934.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0004 a0001c0006t0003g0013 a0001c0006t0003g0004 a0001c0006t0003g0013	2	274	0.0073	14	c.949 others(31): Show c.9499+828_9499+841dupGTGTGTGTGTGTGT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	49/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32532134	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(45): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00639.hp1 HG01071.hp1 HG01106.hp2 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01496.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG02056.hp2 HG02280.hp1 HG02486.hp1 HG02615.hp1 HG02647.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG03209.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03540.hp2 HG03579.hp2 HG03688.hp2 NA18747.hp1 NA18944.hp1 NA18947.hp1 NA18952.hp1 NA18960.hp1 NA18961.hp2 NA18966.hp1 NA18973.hp1 NA18979.hp2 NA18983.hp2 NA19000.hp2 NA19009.hp1 NA19084.hp2 NA19088.hp1 NA20752.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0003 a0001c0005 others(9): Show a0001c0001 a0001c0003 a0001c0005 a0001c0010 a0001c0011 a0002c0002 a0002c0004 a0002c0016 a0002c0035 a0002c0042 a0003c0017 a0005c0026	a0001c0001t0001 a0001c0001t0003 a0001c0003t0003 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0003 a0001c0005t0001 a0001c0010t0002 a0001c0011t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0010 a0002c0004t0002 a0002c0016t0002 a0002c0035t0012 a0002c0042t0002 a0003c0017t0003 a0005c0026t0001	a0001c0001t0001g0103 a0001c0001t0001g0193 a0001c0001t0001g0195 others(45): Show a0001c0001t0001g0103 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0199 a0001c0001t0001g0205 a0001c0001t0001g0233 a0001c0001t0001g0239 a0001c0001t0001g0244 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0003g0260 a0001c0003t0003g0023 a0001c0003t0003g0058 a0001c0003t0003g0102 a0001c0003t0003g0124 a0001c0003t0003g0129 a0001c0003t0003g0132 a0001c0003t0003g0134 a0001c0005t0001g0212 a0001c0005t0001g0216 a0001c0010t0002g0051 a0001c0011t0001g0203 a0001c0011t0001g0261 a0002c0002t0002g0064 a0002c0002t0002g0079 a0002c0002t0002g0114 a0002c0002t0002g0141 a0002c0002t0002g0159 a0002c0002t0002g0161 a0002c0002t0003g0163 a0002c0002t0010g0015 a0002c0004t0002g0146 a0002c0016t0002g0082 a0002c0016t0002g0096 a0002c0035t0012g0104 a0002c0042t0002g0106 a0003c0017t0003g0135 a0003c0017t0003g0136 a0005c0026t0001g0187	48	274	0.1752	14	c.122 others(33): Show c.12291+607_12291+620dupTGTGTGTGTGTGTG	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	61/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32553197	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0062 a0002c0004t0002g0062	1	274	0.0037	14	c.131 others(35): Show c.13144+3740_13144+3753dupAAAAAAAAAAAAAA	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	65/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32578979	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA18942.hp2 NA18943.hp1 others(1): Show HG03041.hp2 NA18942.hp2 NA18943.hp1 NA19062.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0046 a0002c0034 a0001c0001 a0001c0046 a0002c0034	a0001c0001t0001 a0001c0046t0002 a0002c0034t0001 a0001c0001t0001 a0001c0046t0002 a0002c0034t0001	a0001c0001t0001g0101 a0001c0001t0001g0225 a0001c0046t0002g0155 others(1): Show a0001c0001t0001g0101 a0001c0001t0001g0225 a0001c0046t0002g0155 a0002c0034t0001g0222	4	274	0.0146	14	c.133 others(35): Show c.13355+3624_13355+3625insTATATATATATATA	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	66/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32609285	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG06807.hp2 NA18943.hp2 others(1): Show HG02258.hp2 HG06807.hp2 NA18943.hp2 NA19066.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0007 a0002c0002 a0001c0003 a0001c0007 a0002c0002	a0001c0003t0002 a0001c0007t0006 a0002c0002t0002 a0001c0003t0002 a0001c0007t0006 a0002c0002t0002	a0001c0003t0002g0130 a0001c0007t0006g0185 a0002c0002t0002g0040 others(1): Show a0001c0003t0002g0130 a0001c0007t0006g0185 a0002c0002t0002g0040 a0002c0002t0002g0076	4	274	0.0146	14	c.142 others(35): Show c.14259+1656_14259+1669dupGTGTGTGTGTGTGT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	72/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32611108	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0013 a0001c0006t0003g0013	1	274	0.0037	14	c.142 others(33): Show c.14260-329_14260-328insTTTTTTTTTTTTTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	72/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC7_chr20_63230905_63245495	63233133	A A	AGGGGGCA others(7): Show AGGGGGCATCACAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0054 a0001c0002t0001g0054	1	300	0.0033	14	c.-29 others(25): Show c.-2964_-2963insGGGGGCATCACAGG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		2771		chr20	TogoVar
BIVM_chr13_102794119_102846533	102833326	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0310 a0001c0001t0022g0310	1	404	0.0025	14	c.103 others(33): Show c.1035-1140_1035-1139insTTTTTTTTTTTTTT	BIVM	ENSG00000134897.14	transcript	ENST00000257336.6	protein_coding	8/10			chr13	TogoVar
BIVM_chr13_102794119_102846533	102833327	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00597.hp2 HG01069.hp1 others(10): Show HG00140.hp2 HG00597.hp2 HG01069.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG02071.hp2 HG02809.hp1 HG03491.hp2 HG03710.hp2 HG04204.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 a0001c0001t0030	a0001c0001t0002g0026 a0001c0001t0002g0083 a0001c0001t0002g0121 others(8): Show a0001c0001t0002g0026 a0001c0001t0002g0083 a0001c0001t0002g0121 a0001c0001t0002g0124 a0001c0001t0002g0176 a0001c0001t0002g0203 a0001c0001t0003g0041 a0001c0001t0003g0250 a0001c0001t0004g0311 a0001c0001t0014g0125 a0001c0001t0030g0070	13	404	0.0322	14	c.103 others(33): Show c.1035-1134_1035-1121dupTTTTTTTTTTTTTT	BIVM	ENSG00000134897.14	transcript	ENST00000257336.6	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
BLK_chr8_11489387_11569599	11504412	A A	AAAAGAAA others(7): Show AAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02451.hp1 HG02486.hp2 others(5): Show HG02280.hp1 HG02451.hp1 HG02486.hp2 HG02922.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0014 a0001c0002 a0001c0006 a0001c0014	a0001c0002t0009 a0001c0006t0004 a0001c0006t0005 others(1): Show a0001c0002t0009 a0001c0006t0004 a0001c0006t0005 a0001c0014t0004	a0001c0002t0009g0101 a0001c0006t0004g0098 a0001c0006t0005g0082 others(5): Show a0001c0002t0009g0101 a0001c0006t0004g0098 a0001c0006t0005g0082 a0001c0006t0005g0096 a0001c0006t0005g0097 a0001c0006t0005g0099 a0001c0006t0005g0100 a0001c0014t0004g0095	8	308	0.0260	14	c.-2+ others(29): Show c.-2+9824_-2+9825insGAAAAGAAAAGAAA	BLK	ENSG00000136573.16	transcript	ENST00000259089.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
BLM_chr15_90712346_90821166	90735236	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02615.hp2 NA18944.hp2 HG02559.hp1 HG02615.hp2 NA18944.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0004c0006t0002 a0001c0001t0001 a0001c0001t0002 a0004c0006t0002	a0001c0001t0001g0267 a0001c0001t0002g0020 a0004c0006t0002g0030 a0001c0001t0001g0267 a0001c0001t0002g0020 a0004c0006t0002g0030	3	280	0.0107	14	c.-4- others(31): Show c.-4-12130_-4-12117dupATATATATATATAT	BLM	ENSG00000197299.13	transcript	ENST00000355112.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
BLM_chr15_90712346_90821166	90778889	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0056 a0001c0002t0001g0056	1	280	0.0036	14	c.255 others(33): Show c.2556-3932_2556-3919dupTTTTTTTTTTTTTT	BLM	ENSG00000197299.13	transcript	ENST00000355112.8	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
BLM_chr15_90712346_90821166	90784351	T T	TTTTTTTT others(7): Show TTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	280	0.0036	14	c.266 others(31): Show c.2663-570_2663-569insTTTTTTTTTTTTTG	BLM	ENSG00000197299.13	transcript	ENST00000355112.8	protein_coding	13/21			chr15	TogoVar
BLNK_chr10_96184171_96276569	96194768	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0013 a0001c0003t0012g0013	1	322	0.0031	14	c.125 others(33): Show c.1251+2126_1251+2139dupAAAAAAAAAAAAAA	BLNK	ENSG00000095585.18	transcript	ENST00000224337.10	protein_coding	16/16			chr10	TogoVar
BLNK_chr10_96184171_96276569	96229654	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03540.hp1 HG03927.hp1 HG02647.hp1 HG03540.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0008 a0001c0003t0013 a0001c0001t0001 a0001c0003t0008 a0001c0003t0013	a0001c0001t0001g0203 a0001c0003t0008g0017 a0001c0003t0013g0012 a0001c0001t0001g0203 a0001c0003t0008g0017 a0001c0003t0013g0012	3	322	0.0093	14	c.204 others(31): Show c.204+1126_204+1139dupCACACACACACACA	BLNK	ENSG00000095585.18	transcript	ENST00000224337.10	protein_coding	4/16			chr10	TogoVar
BLOC1S1_chr12_55711046_55724703	55714517	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	410	0.0024	14	c.-15 others(25): Show c.-1535_-1534insAAAAAAAAAAAAAA	BLOC1S1	ENSG00000135441.8	transcript	ENST00000548925.6	protein_coding		1528		chr12	TogoVar
BLOC1S2_chr10_100268293_100291680	100281703	T T	TATATATA others(7): Show TATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0216 a0002c0002t0007g0216	1	378	0.0027	14	c.173 others(29): Show c.173-651_173-650insGTGTATATATATAT	BLOC1S2	ENSG00000196072.12	transcript	ENST00000370372.7	protein_coding	2/4			chr10	TogoVar
BLOC1S2_chr10_100268293_100291680	100281705	T T	TATATACA others(7): Show TATATACACATACAC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02809.hp2 HG02970.hp2 HG02723.hp2 HG02809.hp2 HG02970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0018 a0002c0002t0007 a0002c0002t0018	a0002c0002t0007g0042 a0002c0002t0018g0226 a0002c0002t0007g0042 a0002c0002t0018g0226	3	378	0.0079	14	c.173 others(29): Show c.173-653_173-652insGTGTATGTGTATAT	BLOC1S2	ENSG00000196072.12	transcript	ENST00000370372.7	protein_coding	2/4			chr10	TogoVar
BLOC1S2_chr10_100268293_100291680	100281711	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01496.hp2 HG02148.hp1 others(5): Show HG00609.hp2 HG01496.hp2 HG02148.hp1 HG02572.hp2 NA18957.hp2 NA18991.hp2 NA19002.hp1 NA19056.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0002c0002t0017 a0001c0001t0001 a0002c0002t0003 a0002c0002t0017	a0001c0001t0001g0180 a0001c0001t0001g0181 a0002c0002t0003g0233 others(5): Show a0001c0001t0001g0180 a0001c0001t0001g0181 a0002c0002t0003g0233 a0002c0002t0003g0234 a0002c0002t0003g0235 a0002c0002t0003g0236 a0002c0002t0003g0237 a0002c0002t0017g0232	8	378	0.0212	14	c.173 others(29): Show c.173-672_173-659dupGTGTGTGTGTGTGT	BLOC1S2	ENSG00000196072.12	transcript	ENST00000370372.7	protein_coding	2/4			chr10	TogoVar
BLOC1S3_chr19_45173784_45186800	45177191	G G	GCGCGCAC others(7): Show GCGCGCACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0002 a0001c0001t0015g0002	1	426	0.0024	14	c.-16 others(25): Show c.-1650_-1649insCGCGCACACACACA	BLOC1S3	ENSG00000189114.8	transcript	ENST00000433642.3	protein_coding		1592		chr19	TogoVar
BLOC1S5_chr6_8008567_8069389	8017385	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01243.hp2 HG00639.hp1 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0221 a0001c0001t0003g0222	2	364	0.0055	14	c.385 others(31): Show c.385-1571_385-1558dupGTGTGTGTGTGTGT	BLOC1S5	ENSG00000188428.20	transcript	ENST00000397457.7	protein_coding	4/4			chr6	TogoVar
BLOC1S5_chr6_8008567_8069389	8030865	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0195 a0002c0002t0004g0195	1	364	0.0028	14	c.326 others(31): Show c.326-4441_326-4440insTTTTTTTTTTTTTT	BLOC1S5	ENSG00000188428.20	transcript	ENST00000397457.7	protein_coding	3/4			chr6	TogoVar
BLOC1S5_chr6_8008567_8069389	8041655	C C	CTTTCTTT others(7): Show CTTTCTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03942.hp1 HG02738.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0266 a0001c0001t0002g0277 a0001c0001t0002g0266 a0001c0001t0002g0277	2	364	0.0055	14	c.196 others(29): Show c.196-388_196-387insAAAAAAAAAAGAAA	BLOC1S5	ENSG00000188428.20	transcript	ENST00000397457.7	protein_coding	2/4			chr6	TogoVar
BLOC1S5_chr6_8008567_8069389	8047160	T T	TCTCTCAC others(7): Show TCTCTCACACACACA	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0220 a0001c0001t0003g0220	1	364	0.0028	14	c.196 others(31): Show c.196-5893_196-5892insTGTGTGTGTGAGAG	BLOC1S5	ENSG00000188428.20	transcript	ENST00000397457.7	protein_coding	2/4			chr6	TogoVar
BLOC1S5_chr6_8008567_8069389	8047160	T T	TCTCTCTC others(7): Show TCTCTCTCTCACACA	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA18961.hp2 HG02257.hp1 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0019 a0001c0001t0003 a0001c0001t0019	a0001c0001t0003g0239 a0001c0001t0019g0217 a0001c0001t0003g0239 a0001c0001t0019g0217	2	364	0.0055	14	c.196 others(31): Show c.196-5893_196-5892insTGTGTGAGAGAGAG	BLOC1S5	ENSG00000188428.20	transcript	ENST00000397457.7	protein_coding	2/4			chr6	TogoVar
BLOC1S5_chr6_8008567_8069389	8047160	T T	TCTCTCTC others(7): Show TCTCTCTCTCTCACA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp2 HG03139.hp1 others(1): Show HG01891.hp2 HG02055.hp2 HG03139.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0017 a0001c0001t0003 a0001c0001t0017	a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0144 others(1): Show a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0017g0146	4	364	0.0110	14	c.196 others(31): Show c.196-5893_196-5892insTGTGAGAGAGAGAG	BLOC1S5	ENSG00000188428.20	transcript	ENST00000397457.7	protein_coding	2/4			chr6	TogoVar
BLOC1S5_chr6_8008567_8069389	8047160	T T	TCTCTCTC others(7): Show TCTCTCTCTCTCTCA	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18957.hp1 NA18972.hp1 others(1): Show HG02056.hp2 NA18957.hp1 NA18972.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0216 a0001c0001t0003g0223 a0001c0001t0003g0227 others(1): Show a0001c0001t0003g0216 a0001c0001t0003g0223 a0001c0001t0003g0227 a0001c0001t0003g0228	4	364	0.0110	14	c.196 others(31): Show c.196-5893_196-5892insTGAGAGAGAGAGAG	BLOC1S5	ENSG00000188428.20	transcript	ENST00000397457.7	protein_coding	2/4			chr6	TogoVar
BLTP1_chr4_122147331_122367752	122262148	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02056.hp2 HG02155.hp1 others(5): Show HG01361.hp1 HG02056.hp2 HG02155.hp1 HG03927.hp1 NA18747.hp1 NA18975.hp1 NA19056.hp1 NA20752.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0004c0013	a0001c0001t0001 a0001c0002t0001 a0001c0009t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0009t0001 a0004c0013t0001	a0001c0001t0001g0221 a0001c0002t0001g0002 a0001c0002t0001g0021 others(4): Show a0001c0001t0001g0221 a0001c0002t0001g0002 a0001c0002t0001g0021 a0001c0002t0001g0026 a0001c0002t0001g0085 a0001c0009t0001g0081 a0004c0013t0001g0226	8	336	0.0238	14	c.676 others(31): Show c.6763-590_6763-577dupGTGTGTGTGTGTGT	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	42/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP1_chr4_122147331_122367752	122267051	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG01175.hp2 others(10): Show HG00280.hp1 HG00639.hp1 HG01175.hp2 HG01256.hp1 HG02258.hp2 HG02451.hp1 HG02622.hp1 HG02630.hp2 HG03471.hp2 HG03688.hp2 NA19043.hp2 NA20300.hp2 NA20905.hp1	a0001 a0005 a0017 a0001 a0005 a0017	a0001c0001 a0001c0007 a0001c0036 others(2): Show a0001c0001 a0001c0007 a0001c0036 a0005c0010 a0017c0035	a0001c0001t0001 a0001c0007t0001 a0001c0036t0001 others(2): Show a0001c0001t0001 a0001c0007t0001 a0001c0036t0001 a0005c0010t0001 a0017c0035t0001	a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0304 others(10): Show a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0304 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0007t0001g0241 a0001c0007t0001g0243 a0001c0007t0001g0245 a0001c0007t0001g0247 a0001c0036t0001g0320 a0005c0010t0001g0307 a0017c0035t0001g0142	13	336	0.0387	14	c.749 others(31): Show c.7493+105_7493+118dupTTTTTTTTTTTTTT	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	46/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP1_chr4_122147331_122367752	122321979	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00597.hp2 others(18): Show HG00140.hp1 HG00408.hp1 HG00597.hp2 HG00639.hp2 HG00738.hp1 HG00741.hp2 HG01255.hp1 HG02132.hp1 HG03516.hp1 HG03704.hp1 HG03831.hp2 NA18952.hp1 NA18957.hp2 NA18968.hp1 NA18994.hp1 NA19000.hp1 NA19054.hp1 NA19054.hp2 NA19070.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0010 a0012 a0001 a0010 a0012	a0001c0001 a0001c0003 a0001c0038 others(2): Show a0001c0001 a0001c0003 a0001c0038 a0010c0020 a0012c0042	a0001c0001t0001 a0001c0003t0001 a0001c0003t0006 others(3): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0006 a0001c0038t0005 a0010c0020t0001 a0012c0042t0001	a0001c0001t0001g0143 a0001c0001t0001g0174 a0001c0001t0001g0182 others(18): Show a0001c0001t0001g0143 a0001c0001t0001g0174 a0001c0001t0001g0182 a0001c0001t0001g0209 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0263 a0001c0001t0001g0269 a0001c0003t0001g0191 a0001c0003t0001g0192 a0001c0003t0001g0194 a0001c0003t0001g0195 a0001c0003t0001g0199 a0001c0003t0001g0200 a0001c0003t0001g0206 a0001c0003t0001g0275 a0001c0003t0001g0292 a0001c0003t0006g0196 a0001c0038t0005g0285 a0010c0020t0001g0180 a0012c0042t0001g0152	21	336	0.0625	14	c.109 others(35): Show c.10996-2425_10996-2412dupTTTTTTTTTTTTTT	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	64/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP3B_chr12_100032072_100147874	100048771	A A	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0028 a0001c0004t0001g0028	1	188	0.0053	14	c.371 others(31): Show c.3719-589_3719-576dupACACACACACACAC	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	17/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100124936	T T	TTATATAT others(7): Show TTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01192.hp1 others(3): Show HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01433.hp1 NA20300.hp1 NA21309.hp2	a0001 a0014 a0001 a0014	a0001c0001 a0014c0018 a0001c0001 a0014c0018	a0001c0001t0001 a0014c0018t0001 a0001c0001t0001 a0014c0018t0001	a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0134 others(3): Show a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0134 a0001c0001t0001g0150 a0001c0001t0001g0173 a0014c0018t0001g0070	6	188	0.0319	14	c.45- others(31): Show c.45-16402_45-16389dupTATATATATATATA	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100124974	A A	ATATATAT others(7): Show ATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02451.hp2 HG02055.hp2 HG02451.hp2	a0001 a0019 a0001 a0019	a0001c0001 a0019c0023 a0001c0001 a0019c0023	a0001c0001t0001 a0019c0023t0002 a0001c0001t0001 a0019c0023t0002	a0001c0001t0001g0103 a0019c0023t0002g0177 a0001c0001t0001g0103 a0019c0023t0002g0177	2	188	0.0106	14	c.45- others(31): Show c.45-16427_45-16426insAATATATATATATA	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar

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