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
PANK2_chr20_3884387_3934887	3929804	T T	TGGGGGTG others(31): Show TGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0098 a0001c0001t0098	a0001c0001t0098g0282 a0001c0001t0098g0282	1	422	0.0024	38	c.65 others(49): Show c.6510_*6511insGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGG	PANK2	ENSG00000125779.24	transcript	ENST00000610179.7	protein_coding	7/7	6511		chr20	TogoVar
PANK3_chr5_168543495_168584368	168565868	A A	AAAAAAAA others(31): Show AAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0291	1	416	0.0024	38	c.635 others(53): Show c.635+144_635+145insATATATATATATATATATATATATATATAT TTTTTTTT	PANK3	ENSG00000120137.7	transcript	ENST00000239231.7	protein_coding	3/6			chr5	TogoVar
PANK3_chr5_168543495_168584368	168565868	A A	AAAAAAAA others(31): Show AAAAAAAATACATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0311 a0001c0001t0049g0311	1	416	0.0024	38	c.635 others(53): Show c.635+144_635+145insATATATATATATATATATATATATATATGT ATTTTTTT	PANK3	ENSG00000120137.7	transcript	ENST00000239231.7	protein_coding	3/6			chr5	TogoVar
PANK3_chr5_168543495_168584368	168565868	A A	AAAATATA others(31): Show AAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19087.hp1 NA19004.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0302 a0001c0001t0001g0279 a0001c0001t0001g0302	2	416	0.0048	38	c.635 others(53): Show c.635+144_635+145insATATATATATATATATATATATATATATAT ATATATTT	PANK3	ENSG00000120137.7	transcript	ENST00000239231.7	protein_coding	3/6			chr5	TogoVar
PANK3_chr5_168543495_168584368	168565868	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18994.hp2 NA18944.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0301 a0001c0001t0001g0314 a0001c0001t0001g0301 a0001c0001t0001g0314	2	416	0.0048	38	c.635 others(53): Show c.635+144_635+145insATATATATATATATATATATATATATATAT ATATATAT	PANK3	ENSG00000120137.7	transcript	ENST00000239231.7	protein_coding	3/6			chr5	TogoVar
PAPPA_chr9_116148791_116407321	116156334	G G	GTGTGTAT others(31): Show GTGTGTATATATATATATGTATATATATATATGTGTGTA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0020 a0002c0004t0020	a0002c0004t0020g0083 a0002c0004t0020g0083	1	234	0.0043	38	c.415 others(55): Show c.415+1748_415+1749insGTGTATATATATATATGTATATATATAT ATGTGTGTAT	PAPPA	ENSG00000182752.10	transcript	ENST00000328252.4	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PAPSS2_chr10_87654878_87752705	87706108	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA18950.hp1 NA19058.hp2 others(1): Show HG02486.hp2 NA18950.hp1 NA19058.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 a0001c0001t0001 a0001c0001t0002 a0001c0001t0017	a0001c0001t0001g0143 a0001c0001t0001g0301 a0001c0001t0002g0271 others(1): Show a0001c0001t0001g0143 a0001c0001t0001g0301 a0001c0001t0002g0271 a0001c0001t0017g0192	4	372	0.0108	38	c.28- others(53): Show c.28-3087_28-3086insATATATATATATATATATATATATATATGT GTGTGTGT	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87706108	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18955.hp1 NA18944.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0241 a0001c0001t0002g0134 a0001c0001t0001g0241 a0001c0001t0002g0134	2	372	0.0054	38	c.28- others(53): Show c.28-3087_28-3086insATATATATATATATATATATATATATGTGT GTGTGTGT	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87706108	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA18946.hp2 HG03209.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0019 a0001c0001t0002 a0001c0001t0019	a0001c0001t0002g0104 a0001c0001t0019g0163 a0001c0001t0002g0104 a0001c0001t0019g0163	2	372	0.0054	38	c.28- others(53): Show c.28-3087_28-3086insATATATATATATATATATATATATGTGTGT GTGTGTGT	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87706108	A A	ATATATAT others(31): Show ATATATATATATATATATATATATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	372	0.0027	38	c.28- others(53): Show c.28-3087_28-3086insATATATATATATATATATATATGTGTGTGT GTGTGTGT	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87713312	T T	TAAAAAAA others(31): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18964.hp2 NA18981.hp1 others(1): Show NA18957.hp2 NA18964.hp2 NA18981.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0003 a0001c0001t0010	a0001c0001t0003g0136 a0001c0001t0010g0075 a0001c0001t0010g0081 others(1): Show a0001c0001t0003g0136 a0001c0001t0010g0075 a0001c0001t0010g0081 a0001c0001t0010g0082	4	372	0.0108	38	c.381 others(51): Show c.381+24_381+25insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAQR5_chr15_69293912_69412780	69300875	T T	TCCTTCCT others(31): Show TCCTTCCTTCCTTCCTTCCTTTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	284	0.0035	38	c.-27 others(57): Show c.-277+1819_-277+1820insCCTTCCTTCCTTCCTTCCTTTCTCTC TCTCTCTCTCTC	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8			chr15	TogoVar
PAQR5_chr15_69293912_69412780	69300933	C C	CTTTCTTT others(31): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0156 a0001c0001t0012g0156	1	284	0.0035	38	c.-27 others(57): Show c.-277+1878_-277+1879insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR9_chr3_142949585_142968674	142967469	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAAAAAAAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0000 a0002c0003t0009g0000	1	446	0.0022	38	c.-41 others(49): Show c.-4134_-4133insATATATATATATATATTTTTTTTTTTTTTTTTTT TTTT	PAQR9	ENSG00000188582.10	transcript	ENST00000340634.6	protein_coding		3796		chr3	TogoVar
PARD3B_chr2_204540475_205625162	204883417	A A	AATATATA others(31): Show AATATATATATATATATAAAATATATATATATATATAAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02723.hp1 HG03041.hp1 others(1): Show HG02055.hp1 HG02723.hp1 HG03041.hp1 HG03453.hp2	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0002 a0001c0008 a0003c0005 others(1): Show a0001c0002 a0001c0008 a0003c0005 a0008c0007	a0001c0002t0013 a0001c0008t0001 a0003c0005t0001 others(1): Show a0001c0002t0013 a0001c0008t0001 a0003c0005t0001 a0008c0007t0001	a0001c0002t0013g0022 a0001c0008t0001g0054 a0003c0005t0001g0025 others(1): Show a0001c0002t0013g0022 a0001c0008t0001g0054 a0003c0005t0001g0025 a0008c0007t0001g0026	4	54	0.0741	38	c.223 others(57): Show c.223-81720_223-81719insTAAAATATATATATATATATAATATA TATATATATATA	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	204883455	A A	ATATATAT others(31): Show ATATATATAAAATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03453.hp1 HG03471.hp1 others(1): Show HG02886.hp2 HG03453.hp1 HG03471.hp1 NA19240.hp2	a0001 a0001	a0001c0004 a0001c0006 a0001c0021 a0001c0004 a0001c0006 a0001c0021	a0001c0004t0002 a0001c0006t0007 a0001c0021t0001 a0001c0004t0002 a0001c0006t0007 a0001c0021t0001	a0001c0004t0002g0035 a0001c0006t0007g0013 a0001c0006t0007g0018 others(1): Show a0001c0004t0002g0035 a0001c0006t0007g0013 a0001c0006t0007g0018 a0001c0021t0001g0012	4	54	0.0741	38	c.223 others(57): Show c.223-81696_223-81695insATATATAAAATATATATATATATATA TATTTTTTTTTT	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205054426	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0022 a0001c0002t0013g0022	1	54	0.0185	38	c.504 others(55): Show c.504+6747_504+6748insATATATATATATATATATATATATATTT ATATATATAT	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205238850	A A	AAAAAAAT others(31): Show AAAAAAATATATATATATATATATATATATGTATGTGTG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0007 a0001c0006t0007	a0001c0006t0007g0018 a0001c0006t0007g0018	1	54	0.0185	38	c.214 others(57): Show c.2141-6928_2141-6927insAAAAAATATATATATATATATATATA TATGTATGTGTG	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	15/22			chr2	TogoVar
PARD6B_chr20_50726580_50758741	50750954	A A	ATTTTTTT others(31): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0090 a0001c0001t0083g0090	1	364	0.0028	38	c.49 others(47): Show c.498_*499insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	PARD6B	ENSG00000124171.9	transcript	ENST00000371610.7	protein_coding	3/3	499	INFO_REALIGN_3_PRIME	chr20	TogoVar
PARD6G_chr18_80152232_80252514	80195548	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18942.hp1 NA18968.hp2 others(3): Show HG00673.hp2 NA18942.hp1 NA18968.hp2 NA18970.hp1 NA18975.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0329 a0001c0002t0001g0261 a0001c0002t0001g0264 others(3): Show a0001c0001t0001g0329 a0001c0002t0001g0261 a0001c0002t0001g0264 a0001c0002t0001g0300 a0001c0002t0001g0307 a0001c0002t0001g0361	6	382	0.0157	38	c.295 others(55): Show c.295+7161_295+7162insATATATATATATATATATATATATATAT ATATATATAT	PARD6G	ENSG00000178184.16	transcript	ENST00000353265.8	protein_coding	2/2			chr18	TogoVar
PARD6G_chr18_80152232_80252514	80195557	A A	ATATATAT others(31): Show ATATATATATATATATATACATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01123.hp2 HG01109.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0197 a0001c0001t0004g0202 a0001c0001t0004g0197 a0001c0001t0004g0202	2	382	0.0052	38	c.295 others(55): Show c.295+7152_295+7153insCATATATATATATATATATGTATATATA TATATATATA	PARD6G	ENSG00000178184.16	transcript	ENST00000353265.8	protein_coding	2/2			chr18	TogoVar
PARD6G_chr18_80152232_80252514	80195559	A A	ATATATAT others(31): Show ATATATATATATATATATACATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01168.hp2 HG01433.hp2 others(5): Show HG00438.hp2 HG01168.hp2 HG01433.hp2 HG01884.hp2 HG01981.hp1 HG03654.hp1 HG03704.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0004 a0001c0001t0020 a0001c0002t0004 others(1): Show a0001c0001t0004 a0001c0001t0020 a0001c0002t0004 a0001c0004t0004	a0001c0001t0004g0193 a0001c0001t0004g0207 a0001c0001t0004g0208 others(5): Show a0001c0001t0004g0193 a0001c0001t0004g0207 a0001c0001t0004g0208 a0001c0001t0004g0214 a0001c0001t0004g0222 a0001c0001t0020g0209 a0001c0002t0004g0219 a0001c0004t0004g0190	8	382	0.0209	38	c.295 others(55): Show c.295+7150_295+7151insCATATATATATATATATATGTATATATA TATATATATA	PARD6G	ENSG00000178184.16	transcript	ENST00000353265.8	protein_coding	2/2			chr18	TogoVar
PARD6G_chr18_80152232_80252514	80195572	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0297 a0001c0001t0001g0297	1	382	0.0026	38	c.295 others(55): Show c.295+7137_295+7138insGTATATATATATATATATATATATATAT ATATATATAT	PARD6G	ENSG00000178184.16	transcript	ENST00000353265.8	protein_coding	2/2			chr18	TogoVar
PARD6G_chr18_80152232_80252514	80251536	T T	TGTTTTTT others(31): Show TGTTTTTTGTCTTTGTTTTGTGCTTATTGTTTTTTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0364 a0001c0002t0001g0364	1	382	0.0026	38	c.-41 others(49): Show c.-4189_-4188insCAAAAAAAAACAATAAGCACAAAACAAAGACAAA AAAC	PARD6G	ENSG00000178184.16	transcript	ENST00000353265.8	protein_coding		4023		chr18	TogoVar
PARP16_chr15_65253099_65291883	65290933	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 NA21309.hp2 HG03041.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0060 a0001c0002t0001g0003 a0001c0002t0001g0060	2	316	0.0063	38	c.-45 others(49): Show c.-4508_-4507insATATATATATATATATATATATATATATATATAT ATAT	PARP16	ENSG00000138617.16	transcript	ENST00000649807.2	protein_coding		4051		chr15	TogoVar
PARP8_chr5_50661637_50851519	50754150	T T	TATATATA others(31): Show TATATATATATATATATATATATATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0030 a0001c0004t0005g0030	1	328	0.0031	38	c.184 others(55): Show c.184+3963_184+3964insTATATATATATATATATATATATACACA CACACACACA	PARP8	ENSG00000151883.20	transcript	ENST00000281631.10	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PASD1_chrX_151558675_151681739	151562857	C C	CCGGGCGG others(31): Show CCGGGCGGGGGCGGGGGGGGCAGCTGGGGCGGGGGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG03139.hp1 HG02145.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0002 a0001c0006t0008 a0001c0002t0002 a0001c0006t0008	a0001c0002t0002g0213 a0001c0006t0008g0211 a0001c0002t0002g0213 a0001c0006t0008g0211	2	221	0.0091	38	c.-10 others(49): Show c.-1010_-1009insCGGGCGGGGGCGGGGGGGGCAGCTGGGGCGGGGG GCGG	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding		817		chrX	TogoVar
PASK_chr2_241101099_241154472	241120492	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0206 a0004c0004t0001g0206	1	376	0.0027	38	c.307 others(57): Show c.3072+2239_3072+2240insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	PASK	ENSG00000115687.14	transcript	ENST00000234040.9	protein_coding	12/17			chr2	TogoVar
PATJ_chr1_61737480_62168915	61886819	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01167.hp1 HG01516.hp2 others(1): Show HG00735.hp1 HG01167.hp1 HG01516.hp2 NA18522.hp1	a0006 a0022 a0030 others(1): Show a0006 a0022 a0030 a0056	a0006c0070 a0022c0018 a0030c0075 others(1): Show a0006c0070 a0022c0018 a0030c0075 a0056c0074	a0006c0070t0019 a0022c0018t0004 a0030c0075t0003 others(1): Show a0006c0070t0019 a0022c0018t0004 a0030c0075t0003 a0056c0074t0019	a0006c0070t0019g0025 a0022c0018t0004g0062 a0030c0075t0003g0089 others(1): Show a0006c0070t0019g0025 a0022c0018t0004g0062 a0030c0075t0003g0089 a0056c0074t0019g0041	4	158	0.0253	38	c.313 others(57): Show c.3131+2423_3131+2424insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	22/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	61952253	T T	TGAGAGAG others(31): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03041.hp1 HG01109.hp2 HG03041.hp1	a0026 a0054 a0026 a0054	a0026c0134 a0054c0129 a0026c0134 a0054c0129	a0026c0134t0002 a0054c0129t0002 a0026c0134t0002 a0054c0129t0002	a0026c0134t0002g0105 a0054c0129t0002g0147 a0026c0134t0002g0105 a0054c0129t0002g0147	2	158	0.0127	38	c.367 others(59): Show c.3670+24450_3670+24451insGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	27/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	61997982	T T	TTTTTTAT others(31): Show TTTTTTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0006 a0006	a0006c0114 a0006c0114	a0006c0114t0002 a0006c0114t0002	a0006c0114t0002g0157 a0006c0114t0002g0157	1	158	0.0063	38	c.386 others(57): Show c.3867+7619_3867+7620insTTTTATATATATATATATATATATAT ATATATATATAT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	28/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAX1_chr20_21700664_21723481	21721537	G G	GTATGTAA others(31): Show GTATGTAATACATATATTATATATGTAATGTATATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 NA19078.hp1 HG02698.hp2 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0018 a0001c0001t0003g0019	2	400	0.0050	38	c.69 others(49): Show c.6975_*6976insTATGTAATACATATATTATATATGTAATGTATAT TATA	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3057		chr20	TogoVar
PBRM1_chr3_52540367_52690913	52636757	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0218 a0001c0002t0001g0218	1	300	0.0033	38	c.108 others(57): Show c.1088-1943_1088-1942insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	PBRM1	ENSG00000163939.19	transcript	ENST00000707071.1	protein_coding	11/31			chr3	TogoVar
PBX3_chr9_125742373_125972377	125793364	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0284 a0001c0001t0011g0284	1	294	0.0034	38	c.274 others(57): Show c.274+44742_274+44743insTATATATATATATATATATATATATA TATATATATATA	PBX3	ENSG00000167081.18	transcript	ENST00000373489.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCCB_chr3_136245340_136335169	136264440	G G	GTGTATAT others(31): Show GTGTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG04184.hp2 HG01346.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0157 a0001c0001t0001g0147 a0001c0001t0001g0157	2	300	0.0067	38	c.543 others(55): Show c.543+2376_543+2377insGTATATATATATATATATATATATATAT ATATATATAT	PCCB	ENSG00000114054.14	transcript	ENST00000251654.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCCB_chr3_136245340_136335169	136299558	A A	ATGTATGT others(31): Show ATGTATGTATATGCATGTGTATGTATAGGTATGCATGTG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02896.hp2 HG02897.hp2 others(1): Show HG02630.hp2 HG02896.hp2 HG02897.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 others(1): Show a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038	4	300	0.0133	38	c.885 others(55): Show c.885-1470_885-1433dupGTATGTATATGCATGTGTATGTATAGGT ATGCATGTGT	PCCB	ENSG00000114054.14	transcript	ENST00000251654.9	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCDH10_chr4_133144294_133199700	133154139	T T	TCCACCCT others(31): Show TCCACCCTCCTCTAACTCCGTACTCCTCAATCCATCCTC	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	382	0.0026	38	c.263 others(55): Show c.2632-166_2632-165insACCCTCCTCTAACTCCGTACTCCTCAAT CCATCCTCCC	PCDH10	ENSG00000138650.9	transcript	ENST00000264360.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCDH11X_chrX_91774375_92628230	91950568	T T	TTGATATA others(31): Show TTGATATATATATATAAATGTGATATATATATATAAATG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02486.hp1 HG02647.hp1 others(6): Show HG02055.hp1 HG02486.hp1 HG02647.hp1 HG02809.hp1 HG02818.hp2 HG02976.hp2 HG03209.hp1 HG03942.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0029 a0001c0002t0005 a0001c0002t0021	a0001c0001t0001g0109 a0001c0001t0001g0152 a0001c0001t0002g0049 others(6): Show a0001c0001t0001g0109 a0001c0001t0001g0152 a0001c0001t0002g0049 a0001c0001t0005g0075 a0001c0001t0006g0022 a0001c0001t0011g0010 a0001c0001t0029g0024 a0001c0002t0005g0009 a0001c0002t0021g0006	9	154	0.0584	38	c.303 others(59): Show c.3033+71329_3033+71330insAATGTGATATATATATATAAATGT GATATATATATATA	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92147837	T T	TTCTTTCT others(31): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	154	0.0065	38	c.303 others(59): Show c.3034-53521_3034-53520insCTTTCTTTCTTTCTTTCTTTCTCT TTCTTTCTTTCTTT	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92326639	T T	TATATATA others(31): Show TATATATATATATATATATAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19005.hp1 NA19004.hp1 NA19005.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0009 a0001c0001t0001 a0002c0004t0009	a0001c0001t0001g0030 a0002c0004t0009g0035 a0001c0001t0001g0030 a0002c0004t0009g0035	2	154	0.0130	38	c.314 others(59): Show c.3145-61095_3145-61094insTATATATATATATATATAGAGAGA GAGAGAGAGAGAGA	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	8/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92326639	T T	TATATATA others(31): Show TATATATATATATATATATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18983.hp1 NA18966.hp1 NA18983.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0003 a0003c0005t0001 a0001c0001t0003 a0003c0005t0001	a0001c0001t0003g0079 a0003c0005t0001g0114 a0001c0001t0003g0079 a0003c0005t0001g0114	2	154	0.0130	38	c.314 others(59): Show c.3145-61095_3145-61094insTATATATATATATATATATATAGA GAGAGAGAGAGAGA	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	8/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92375166	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0031 a0001c0009t0031	a0001c0009t0031g0044 a0001c0009t0031g0044	1	154	0.0065	38	c.314 others(59): Show c.3145-12568_3145-12567insATATATATATATATATATATATAT TTTTTTTTTTTTTT	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	8/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92411956	A A	AGGAGGAG others(31): Show AGGAGGAGGGGGGGAGGAGGAGGGGGAGGAGGAGGAGGG	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0110	1	154	0.0065	38	c.334 others(59): Show c.3343+24031_3343+24032insGGGGGAGGAGGAGGGGGAGGAGGA GGAGGGGGAGGAGG	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	9/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH15_chr10_53797771_54806231	53855904	G G	GTATATAT others(31): Show GTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03942.hp2 HG01884.hp2 HG03942.hp2	a0003 a0032 a0003 a0032	a0003c0003 a0032c0024 a0003c0003 a0032c0024	a0003c0003t0002 a0032c0024t0001 a0003c0003t0002 a0032c0024t0001	a0003c0003t0002g0020 a0032c0024t0001g0053 a0003c0003t0002g0020 a0032c0024t0001g0053	2	102	0.0196	38	c.380 others(57): Show c.3806+1270_3806+1271insTATATATATATATATATATATATATA TATATATATATA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	28/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	53888300	A A	ATACACAT others(31): Show ATACACATATATATATATATGTATATGTATATATATACG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0031 a0001c0001t0004g0031	1	102	0.0098	38	c.350 others(59): Show c.3501+14942_3501+14943insCGTATATATATACATATACATATA TATATATATGTGTA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	26/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54421914	A A	ATATATAT others(31): Show ATATATATATATACACACACACTATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02622.hp2 HG03486.hp2 HG02486.hp1 HG02622.hp2 HG03486.hp2	a0002 a0004 a0015 a0002 a0004 a0015	a0002c0021 a0004c0004 a0015c0013 a0002c0021 a0004c0004 a0015c0013	a0002c0021t0021 a0004c0004t0025 a0015c0013t0003 a0002c0021t0021 a0004c0004t0025 a0015c0013t0003	a0002c0021t0021g0047 a0004c0004t0025g0032 a0015c0013t0003g0035 a0002c0021t0021g0047 a0004c0004t0025g0032 a0015c0013t0003g0035	3	102	0.0294	38	c.158 others(57): Show c.158-42973_158-42972insGTGTATATATATATATAGTGTGTGTG TATATATATATA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	3/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54587882	G G	GAACTGAC others(31): Show GAACTGACTTTAATTCTTTTATTCCCAGTGTAAATTCCA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	102	0.0098	38	c.92- others(55): Show c.92-60043_92-60006dupTGGAATTTACACTGGGAATAAAAGAATT AAAGTCAGTT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	2/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54697655	A A	AGGAAGGA others(31): Show AGGAAGGAAGGAAGGAAGGGGAAGGGGGAAGGGGAAGGG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03492.hp1 HG01884.hp1 HG03492.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0003 a0001c0001t0001 a0003c0003t0003	a0001c0001t0001g0014 a0003c0003t0003g0033 a0001c0001t0001g0014 a0003c0003t0003g0033	2	102	0.0196	38	c.-28 others(57): Show c.-28-33366_-28-33365insCCCTTCCCCTTCCCCCTTCCCCTTCC TTCCTTCCTTCC	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	1/37			chr10	TogoVar
PCDH15_chr10_53816099_54806231	53855904	G G	GTATATAT others(31): Show GTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03942.hp2 HG01884.hp2 HG03942.hp2	a0003 a0028 a0003 a0028	a0003c0005 a0028c0031 a0003c0005 a0028c0031	a0003c0005t0001 a0028c0031t0001 a0003c0005t0001 a0028c0031t0001	a0003c0005t0001g0020 a0028c0031t0001g0051 a0003c0005t0001g0020 a0028c0031t0001g0051	2	94	0.0213	38	c.380 others(57): Show c.3806+1270_3806+1271insTATATATATATATATATATATATATA TATATATATATA	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	28/32			chr10	TogoVar
PCDH15_chr10_53816099_54806231	53888300	A A	ATACACAT others(31): Show ATACACATATATATATATATGTATATGTATATATATACG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	94	0.0106	38	c.350 others(59): Show c.3501+14942_3501+14943insCGTATATATATACATATACATATA TATATATATGTGTA	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	26/32			chr10	TogoVar

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