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
PCDHA13_chr5_140877124_141017347	140946631	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0025 a0001c0002t0007g0025	1	260	0.0039	36	c.239 others(57): Show c.2395-32317_2395-32316insTATATATATATATATATATATATA TATATATACACA	PCDHA13	ENSG00000239389.8	transcript	ENST00000289272.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA13_chr5_140877124_141017347	140946631	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0150 a0001c0001t0005g0150	1	260	0.0039	36	c.239 others(57): Show c.2395-32317_2395-32316insTATATATATATATATATATATATA TATATATATACA	PCDHA13	ENSG00000239389.8	transcript	ENST00000289272.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA1_chr5_140781140_141017347	140946611	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	200	0.0050	36	c.239 others(57): Show c.2395-32317_2395-32316insTATATATATATATATATATATATA TATATATATATA	PCDHA1	ENSG00000204970.10	transcript	ENST00000504120.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA1_chr5_140781140_141017347	140946631	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0015 a0001c0001t0005g0015	1	200	0.0050	36	c.239 others(57): Show c.2395-32317_2395-32316insTATATATATATATATATATATATA TATATATACACA	PCDHA1	ENSG00000204970.10	transcript	ENST00000504120.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA1_chr5_140781140_141017347	140946631	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0088 a0001c0001t0011g0088	1	200	0.0050	36	c.239 others(57): Show c.2395-32317_2395-32316insTATATATATATATATATATATATA TATATATATACA	PCDHA1	ENSG00000204970.10	transcript	ENST00000504120.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA2_chr5_140789852_141017347	140946611	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	202	0.0050	36	c.238 others(57): Show c.2389-32317_2389-32316insTATATATATATATATATATATATA TATATATATATA	PCDHA2	ENSG00000204969.7	transcript	ENST00000526136.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA2_chr5_140789852_141017347	140946631	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0012 a0001c0001t0006g0012	1	202	0.0050	36	c.238 others(57): Show c.2389-32317_2389-32316insTATATATATATATATATATATATA TATATATACACA	PCDHA2	ENSG00000204969.7	transcript	ENST00000526136.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA2_chr5_140789852_141017347	140946631	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0109 a0001c0001t0007g0109	1	202	0.0050	36	c.238 others(57): Show c.2389-32317_2389-32316insTATATATATATATATATATATATA TATATATATACA	PCDHA2	ENSG00000204969.7	transcript	ENST00000526136.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA3_chr5_140796057_141017347	140946611	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	208	0.0048	36	c.239 others(57): Show c.2395-32317_2395-32316insTATATATATATATATATATATATA TATATATATATA	PCDHA3	ENSG00000255408.4	transcript	ENST00000522353.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA3_chr5_140796057_141017347	140946631	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0013 a0001c0001t0007g0013	1	208	0.0048	36	c.239 others(57): Show c.2395-32317_2395-32316insTATATATATATATATATATATATA TATATATACACA	PCDHA3	ENSG00000255408.4	transcript	ENST00000522353.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA3_chr5_140796057_141017347	140946631	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0089 a0001c0001t0008g0089	1	208	0.0048	36	c.239 others(57): Show c.2395-32317_2395-32316insTATATATATATATATATATATATA TATATATATACA	PCDHA3	ENSG00000255408.4	transcript	ENST00000522353.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA4_chr5_140802068_141017347	140946611	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0083 a0003c0003t0001g0083	1	212	0.0047	36	c.238 others(57): Show c.2386-32317_2386-32316insTATATATATATATATATATATATA TATATATATATA	PCDHA4	ENSG00000204967.13	transcript	ENST00000530339.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA4_chr5_140802068_141017347	140946631	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0008 a0003c0003t0008	a0003c0003t0008g0024 a0003c0003t0008g0024	1	212	0.0047	36	c.238 others(57): Show c.2386-32317_2386-32316insTATATATATATATATATATATATA TATATATACACA	PCDHA4	ENSG00000204967.13	transcript	ENST00000530339.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA4_chr5_140802068_141017347	140946631	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0009 a0003c0003t0009	a0003c0003t0009g0008 a0003c0003t0009g0008	1	212	0.0047	36	c.238 others(57): Show c.2386-32317_2386-32316insTATATATATATATATATATATATA TATATATATACA	PCDHA4	ENSG00000204967.13	transcript	ENST00000530339.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA5_chr5_140816613_141017347	140946611	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	220	0.0046	36	c.235 others(57): Show c.2353-32317_2353-32316insTATATATATATATATATATATATA TATATATATATA	PCDHA5	ENSG00000204965.9	transcript	ENST00000529859.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA5_chr5_140816613_141017347	140946631	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0011 a0008c0010t0011	a0008c0010t0011g0051 a0008c0010t0011g0051	1	220	0.0046	36	c.235 others(57): Show c.2353-32317_2353-32316insTATATATATATATATATATATATA TATATATATACA	PCDHA5	ENSG00000204965.9	transcript	ENST00000529859.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA6_chr5_140822960_141017347	140946611	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	236	0.0042	36	c.239 others(57): Show c.2395-32317_2395-32316insTATATATATATATATATATATATA TATATATATATA	PCDHA6	ENSG00000081842.18	transcript	ENST00000529310.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA6_chr5_140822960_141017347	140946631	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0006 a0001c0021t0006	a0001c0021t0006g0113 a0001c0021t0006g0113	1	236	0.0042	36	c.239 others(57): Show c.2395-32317_2395-32316insTATATATATATATATATATATATA TATATATACACA	PCDHA6	ENSG00000081842.18	transcript	ENST00000529310.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA6_chr5_140822960_141017347	140946631	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0011 a0002c0003t0007g0011	1	236	0.0042	36	c.239 others(57): Show c.2395-32317_2395-32316insTATATATATATATATATATATATA TATATATATACA	PCDHA6	ENSG00000081842.18	transcript	ENST00000529310.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA7_chr5_140829269_141017347	140946611	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0055 a0003c0006t0001g0055	1	248	0.0040	36	c.235 others(57): Show c.2356-32317_2356-32316insTATATATATATATATATATATATA TATATATATATA	PCDHA7	ENSG00000204963.6	transcript	ENST00000525929.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA7_chr5_140829269_141017347	140946631	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0006 a0002c0001t0006	a0002c0001t0006g0013 a0002c0001t0006g0013	1	248	0.0040	36	c.235 others(57): Show c.2356-32317_2356-32316insTATATATATATATATATATATATA TATATATACACA	PCDHA7	ENSG00000204963.6	transcript	ENST00000525929.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA7_chr5_140829269_141017347	140946631	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0007 a0004c0005t0007	a0004c0005t0007g0112 a0004c0005t0007g0112	1	248	0.0040	36	c.235 others(57): Show c.2356-32317_2356-32316insTATATATATATATATATATATATA TATATATATACA	PCDHA7	ENSG00000204963.6	transcript	ENST00000525929.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA8_chr5_140836187_141017347	140946611	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0007 a0005c0005t0001g0007	1	258	0.0039	36	c.239 others(57): Show c.2395-32317_2395-32316insTATATATATATATATATATATATA TATATATATATA	PCDHA8	ENSG00000204962.6	transcript	ENST00000531613.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA8_chr5_140836187_141017347	140946631	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0134 a0002c0002t0005g0134	1	258	0.0039	36	c.239 others(57): Show c.2395-32317_2395-32316insTATATATATATATATATATATATA TATATATACACA	PCDHA8	ENSG00000204962.6	transcript	ENST00000531613.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA8_chr5_140836187_141017347	140946631	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0006	a0003c0003t0006g0023 a0003c0003t0006g0023	1	258	0.0039	36	c.239 others(57): Show c.2395-32317_2395-32316insTATATATATATATATATATATATA TATATATATACA	PCDHA8	ENSG00000204962.6	transcript	ENST00000531613.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA9_chr5_140843382_141017347	140946611	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	256	0.0039	36	c.239 others(57): Show c.2395-32317_2395-32316insTATATATATATATATATATATATA TATATATATATA	PCDHA9	ENSG00000204961.7	transcript	ENST00000532602.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA9_chr5_140843382_141017347	140946631	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0005 a0005c0006t0005	a0005c0006t0005g0251 a0005c0006t0005g0251	1	256	0.0039	36	c.239 others(57): Show c.2395-32317_2395-32316insTATATATATATATATATATATATA TATATATACACA	PCDHA9	ENSG00000204961.7	transcript	ENST00000532602.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA9_chr5_140843382_141017347	140946631	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0126 a0003c0004t0007g0126	1	256	0.0039	36	c.239 others(57): Show c.2395-32317_2395-32316insTATATATATATATATATATATATA TATATATATACA	PCDHA9	ENSG00000204961.7	transcript	ENST00000532602.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHAC1_chr5_140921299_141017347	140946611	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0280 a0001c0003t0002g0280	1	280	0.0036	36	c.243 others(57): Show c.2433+17307_2433+17308insTATATATATATATATATATATATA TATATATATATA	PCDHAC1	ENSG00000248383.5	transcript	ENST00000253807.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHAC1_chr5_140921299_141017347	140946631	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0205 a0001c0002t0019g0205	1	280	0.0036	36	c.243 others(57): Show c.2433+17307_2433+17308insTATATATATATATATATATATATA TATATATACACA	PCDHAC1	ENSG00000248383.5	transcript	ENST00000253807.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHAC1_chr5_140921299_141017347	140946631	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0219 a0001c0004t0009g0219	1	280	0.0036	36	c.243 others(57): Show c.2433+17307_2433+17308insTATATATATATATATATATATATA TATATATATACA	PCDHAC1	ENSG00000248383.5	transcript	ENST00000253807.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHB13_chr5_141208919_141223979	141221429	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 NA19082.hp2 HG00642.hp1 NA19082.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0000 a0003c0003t0003g0000	2	428	0.0047	36	c.49 others(47): Show c.4909_*4910insTATATATATATATATATATATATATATATATATA TA	PCDHB13	ENSG00000187372.11	transcript	ENST00000341948.6	protein_coding		2451		chr5	TogoVar
PCDHB13_chr5_141208919_141223979	141221429	G G	GTGTATAT others(29): Show GTGTATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0003 a0009c0015t0003	a0009c0015t0003g0000 a0009c0015t0003g0000	1	428	0.0023	36	c.49 others(47): Show c.4909_*4910insTGTATATATATATATATATATATATATATATATA TA	PCDHB13	ENSG00000187372.11	transcript	ENST00000341948.6	protein_coding		2451		chr5	TogoVar
PCDHB14_chr5_141218343_141232759	141221429	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 NA19082.hp2 HG00642.hp2 NA19082.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0000 a0001c0004t0004g0000	2	448	0.0045	36	c.-20 others(47): Show c.-2077_-2076insTATATATATATATATATATATATATATATATATA TA	PCDHB14	ENSG00000120327.7	transcript	ENST00000239449.7	protein_coding		1913		chr5	TogoVar
PCDHB14_chr5_141218343_141232759	141221429	G G	GTGTATAT others(29): Show GTGTATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0000 a0001c0004t0004g0000	1	448	0.0022	36	c.-20 others(47): Show c.-2077_-2076insTGTATATATATATATATATATATATATATATATA TA	PCDHB14	ENSG00000120327.7	transcript	ENST00000239449.7	protein_coding		1913		chr5	TogoVar
PCDHGA1_chr5_141325514_141517975	141347137	C C	CTCTGTCT others(29): Show CTCTGTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0035 a0001c0002t0001g0035	1	268	0.0037	36	c.242 others(57): Show c.2421+14035_2421+14036insGTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCT	PCDHGA1	ENSG00000204956.6	transcript	ENST00000517417.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA1_chr5_141325514_141517975	141347137	C C	CTCTTTCT others(29): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG02602.hp1 others(2): Show HG00140.hp2 HG00423.hp2 HG02602.hp1 HG03669.hp2 NA18906.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0005 a0001c0001 a0001c0002 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0012 a0004c0005t0004	a0001c0001t0001g0213 a0001c0001t0002g0066 a0001c0002t0001g0218 others(2): Show a0001c0001t0001g0213 a0001c0001t0002g0066 a0001c0002t0001g0218 a0001c0002t0012g0266 a0004c0005t0004g0018	5	268	0.0187	36	c.242 others(57): Show c.2421+14041_2421+14076dupTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTT	PCDHGA1	ENSG00000204956.6	transcript	ENST00000517417.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA2_chr5_141333760_141517975	141347137	C C	CTCTGTCT others(29): Show CTCTGTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	272	0.0037	36	c.242 others(55): Show c.2424+5745_2424+5746insGTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT	PCDHGA2	ENSG00000081853.15	transcript	ENST00000394576.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA2_chr5_141333760_141517975	141347137	C C	CTCTTTCT others(29): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG02602.hp1 others(2): Show HG00140.hp2 HG00423.hp2 HG02602.hp1 HG03669.hp2 NA18906.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0003 a0001c0001 a0001c0004 a0003c0003	a0001c0001t0005 a0001c0004t0001 a0001c0004t0002 others(2): Show a0001c0001t0005 a0001c0004t0001 a0001c0004t0002 a0003c0003t0001 a0003c0003t0011	a0001c0001t0005g0187 a0001c0004t0001g0034 a0001c0004t0002g0033 others(2): Show a0001c0001t0005g0187 a0001c0004t0001g0034 a0001c0004t0002g0033 a0003c0003t0001g0164 a0003c0003t0011g0163	5	272	0.0184	36	c.242 others(55): Show c.2424+5751_2424+5786dupTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTT	PCDHGA2	ENSG00000081853.15	transcript	ENST00000394576.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA3_chr5_141338829_141517975	141347137	C C	CTCTGTCT others(29): Show CTCTGTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0008 a0003c0003t0001g0008	1	270	0.0037	36	c.242 others(53): Show c.2424+683_2424+684insGTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCT	PCDHGA3	ENSG00000254245.3	transcript	ENST00000253812.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA3_chr5_141338829_141517975	141347137	C C	CTCTTTCT others(29): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG03669.hp1 others(1): Show HG00140.hp2 HG00423.hp2 HG03669.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0264 a0001c0001t0001g0270 a0001c0001t0002g0263 others(1): Show a0001c0001t0001g0264 a0001c0001t0001g0270 a0001c0001t0002g0263 a0001c0001t0005g0265	4	270	0.0148	36	c.242 others(53): Show c.2424+689_2424+724dupTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTT	PCDHGA3	ENSG00000254245.3	transcript	ENST00000253812.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB1_chr5_141345099_141517975	141347137	C C	CTCTTTCT others(29): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG02602.hp2 others(2): Show HG00140.hp2 HG00423.hp2 HG02602.hp2 HG03669.hp2 NA18906.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0001c0003 a0011c0012 a0001c0001 a0001c0003 a0011c0012	a0001c0001t0001 a0001c0001t0003 a0001c0003t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0005 a0011c0012t0011	a0001c0001t0001g0162 a0001c0001t0001g0195 a0001c0001t0003g0146 others(2): Show a0001c0001t0001g0162 a0001c0001t0001g0195 a0001c0001t0003g0146 a0001c0003t0005g0087 a0011c0012t0011g0119	5	278	0.0180	36	c.-31 others(47): Show c.-3124_-3123insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TT	PCDHGB1	ENSG00000254221.3	transcript	ENST00000523390.2	protein_coding		2961		chr5	TogoVar
PCGF3_chr4_700832_775089	707556	T T	TCGGGACC others(29): Show TCGGGACCCTGAGACAGCTCTGTTTTCCCCTGGGGGC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02280.hp2 HG02818.hp1 others(2): Show HG02055.hp1 HG02280.hp2 HG02818.hp1 HG02965.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0025 a0001c0001t0026 a0001c0001t0004 a0001c0001t0025 a0001c0001t0026	a0001c0001t0004g0117 a0001c0001t0025g0115 a0001c0001t0025g0116 others(2): Show a0001c0001t0004g0117 a0001c0001t0025g0115 a0001c0001t0025g0116 a0001c0001t0026g0113 a0001c0001t0026g0114	5	366	0.0137	36	c.-19 others(55): Show c.-190+1596_-190+1597insAGACAGCTCTGTTTTCCCCTGGGGGC CGGGACCCTG	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	707664	T T	TCGGGACC others(29): Show TCGGGACCCTGGGACAGCTCTGTTTTCCCCTGGGGGC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG00673.hp1 others(32): Show HG00280.hp2 HG00438.hp2 HG00673.hp1 HG00741.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG02080.hp1 HG02135.hp2 HG02735.hp1 HG03017.hp2 HG03491.hp1 HG03492.hp1 HG03710.hp2 HG03942.hp2 NA18944.hp1 NA18957.hp2 NA18964.hp2 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18973.hp2 NA18975.hp2 NA18978.hp1 NA18979.hp2 NA18986.hp2 NA18994.hp2 NA19004.hp2 NA19007.hp2 NA19055.hp1 NA19066.hp1 NA19066.hp2 NA19079.hp1 NA19091.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0006 a0001c0001t0030 a0001c0001t0031 others(8): Show a0001c0001t0006 a0001c0001t0030 a0001c0001t0031 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0003t0005 a0001c0003t0015 a0001c0003t0032 a0001c0006t0006	a0001c0001t0006g0003 a0001c0001t0006g0080 a0001c0001t0006g0081 others(32): Show a0001c0001t0006g0003 a0001c0001t0006g0080 a0001c0001t0006g0081 a0001c0001t0006g0082 a0001c0001t0006g0083 a0001c0001t0006g0086 a0001c0001t0006g0087 a0001c0001t0006g0089 a0001c0001t0006g0090 a0001c0001t0006g0093 a0001c0001t0006g0096 a0001c0001t0006g0097 a0001c0001t0006g0098 a0001c0001t0006g0099 a0001c0001t0006g0100 a0001c0001t0006g0101 a0001c0001t0006g0102 a0001c0001t0006g0108 a0001c0001t0006g0144 a0001c0001t0030g0088 a0001c0001t0030g0106 a0001c0001t0031g0104 a0001c0001t0031g0105 a0001c0001t0065g0107 a0001c0001t0066g0091 a0001c0001t0067g0092 a0001c0001t0068g0145 a0001c0003t0005g0121 a0001c0003t0015g0004 a0001c0003t0015g0084 a0001c0003t0015g0085 a0001c0003t0015g0103 a0001c0003t0032g0095 a0001c0003t0032g0109 a0001c0006t0006g0094	35	366	0.0956	36	c.-19 others(55): Show c.-190+1705_-190+1740dupGGACAGCTCTGTTTTCCCCTGGGGGC CGGGACCCTG	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	708015	C C	CCCTGGGG others(29): Show CCCTGGGGGCCGGGACCCTGGGACAGCCCTGTTTTCA	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG02300.hp1 NA20805.hp1 HG01517.hp2 HG02300.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0018 a0001c0001t0002 a0001c0001t0018	a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0018g0341 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0018g0341	3	366	0.0082	36	c.-19 others(55): Show c.-190+2101_-190+2136dupGGACAGCCCTGTTTTCACCTGGGGGC CGGGACCCTG	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF5_chr10_91215663_91289337	91238581	A A	ATTTCTTT others(29): Show ATTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0190 a0001c0001t0008g0190	1	318	0.0031	36	c.113 others(53): Show c.113-1880_113-1879insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	PCGF5	ENSG00000180628.15	transcript	ENST00000336126.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
PCGF6_chr10_103297796_103356140	103302452	G G	GTTTTTTT others(29): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0089 a0002c0002t0001g0089	1	372	0.0027	36	c.14 others(47): Show c.1452_*1453insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	PCGF6	ENSG00000156374.16	transcript	ENST00000369847.4	protein_coding		343		chr10	TogoVar
PCK1_chr20_57556110_57573121	57571123	C C	CATGAGTG others(29): Show CATGAGTGCGTTGATATGAAGCGTCTGGAATAGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0006 a0007c0011t0006	a0007c0011t0006g0005 a0007c0011t0006g0005	1	468	0.0021	36	c.53 others(47): Show c.5319_*5320insATGAGTGCGTTGATATGAAGCGTCTGGAATAGGG AA	PCK1	ENSG00000124253.11	transcript	ENST00000319441.6	protein_coding		3003		chr20	TogoVar
PCLO_chr7_82749012_83167884	83038025	A A	ATATATAT others(29): Show ATATATATATATATTTATATCTTTATATATATATCTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0074 a0074	a0074c0030 a0074c0030	a0074c0030t0011 a0074c0030t0011	a0074c0030t0011g0010 a0074c0030t0011g0010	1	188	0.0053	36	c.330 others(57): Show c.3301-71539_3301-71538insAAGATATATATATAAAGATATAAA TATATATATATA	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24			chr7	TogoVar
PCLO_chr7_82749012_83167884	83038053	T T	TTATATAT others(29): Show TTATATATATATTTATATATTTATATATATATCTTTA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	188	0.0053	36	c.330 others(57): Show c.3301-71602_3301-71567dupTAAAGATATATATATAAATATATA AATATATATATA	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24			chr7	TogoVar

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