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
JAK1_chr1_64828229_64971549	64913707	G G	GGAAGGAA others(25): Show GGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	326	0.0031	32	c.-77 others(51): Show c.-77-27367_-77-27366insTTTCCTTCCTTCCTTCCTTCTTTCCT TCCTTC	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	1/24			chr1	TogoVar
JAKMIP1_chr4_6021199_6205549	6080984	T T	TACACACA others(25): Show TACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0057 a0001c0002t0001g0057	1	233	0.0043	32	c.110 others(49): Show c.1101+624_1101+625insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	6/20			chr4	TogoVar
JAKMIP1_chr4_6021199_6205549	6098546	A A	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	233	0.0043	32	c.624 others(49): Show c.624+6895_624+6926dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTT	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	3/20			chr4	TogoVar
JAKMIP1_chr4_6021199_6205549	6183478	C C	CAATAAAT others(25): Show CAATAAATAAATAAATAAATAAATAAATAAATA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	233	0.0043	32	c.-14 others(53): Show c.-148+16774_-148+16775insTATTTATTTATTTATTTATTTATT TATTTATT	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	1/20			chr4	TogoVar
JAKMIP3_chr10_132060946_132189858	132186851	C C	CCCTATCG others(25): Show CCCTATCGGGGGCGGGCCCTATCGGGGGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 NA19081.hp1 NA19081.hp2 HG02027.hp2 NA19081.hp1 NA19081.hp2	a0001 a0003 a0001 a0003	a0001c0015 a0003c0003 a0003c0021 a0001c0015 a0003c0003 a0003c0021	a0001c0015t0001 a0003c0003t0001 a0003c0021t0001 a0001c0015t0001 a0003c0003t0001 a0003c0021t0001	a0001c0015t0001g0030 a0003c0003t0001g0077 a0003c0021t0001g0032 a0001c0015t0001g0030 a0003c0003t0001g0077 a0003c0021t0001g0032	3	158	0.0190	32	c.55 others(43): Show c.5598_*5599insCCTATCGGGGGCGGGCCCTATCGGGGGCGGGG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding		1994		chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132186856	T T	TCGGGGGC others(25): Show TCGGGGGCGGGGCCTATCGGGGGCGGGGCCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01256.hp2 HG03491.hp1 others(2): Show HG01175.hp2 HG01256.hp2 HG03491.hp1 HG03834.hp2 HG04228.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0013 a0002c0008 a0004c0011 others(1): Show a0001c0013 a0002c0008 a0004c0011 a0004c0014	a0001c0013t0016 a0002c0008t0018 a0004c0011t0001 others(1): Show a0001c0013t0016 a0002c0008t0018 a0004c0011t0001 a0004c0014t0001	a0001c0013t0016g0155 a0002c0008t0018g0120 a0004c0011t0001g0134 others(2): Show a0001c0013t0016g0155 a0002c0008t0018g0120 a0004c0011t0001g0134 a0004c0014t0001g0041 a0004c0014t0001g0074	5	158	0.0317	32	c.56 others(43): Show c.5603_*5604insCGGGGGCGGGGCCTATCGGGGGCGGGGCCTGC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding		1999		chr10	TogoVar
JAM2_chr21_25634258_25722562	25660759	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0298 a0001c0001t0002g0298	1	328	0.0031	32	c.67+ others(49): Show c.67+20895_67+20896insATATATATATATATATATATATATATAT ATAT	JAM2	ENSG00000154721.15	transcript	ENST00000480456.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
JAM2_chr21_25634258_25722562	25660782	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18967.hp2 HG02074.hp1 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0035 a0001c0001t0008 a0001c0001t0035	a0001c0001t0008g0228 a0001c0001t0035g0124 a0001c0001t0008g0228 a0001c0001t0035g0124	2	328	0.0061	32	c.67+ others(49): Show c.67+20895_67+20896insATATATATATATATATATATATATATTT TTTT	JAM2	ENSG00000154721.15	transcript	ENST00000480456.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
JAM2_chr21_25634258_25722562	25660782	A A	ATATATAT others(25): Show ATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0147 a0002c0003t0007g0147	1	328	0.0031	32	c.67+ others(49): Show c.67+20895_67+20896insATATATATATATATATATATATTTTTTT TTTT	JAM2	ENSG00000154721.15	transcript	ENST00000480456.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
JAM2_chr21_25634258_25722562	25660782	A A	ATATATAT others(25): Show ATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0286 a0001c0001t0002g0286	1	328	0.0031	32	c.67+ others(49): Show c.67+20895_67+20896insATATATATATATATATTTTTTTTTTTTT TTTT	JAM2	ENSG00000154721.15	transcript	ENST00000480456.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
JAM2_chr21_25634258_25722562	25660782	A A	ATATATAT others(25): Show ATATATATATATATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18964.hp1 HG02083.hp2 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0264 a0001c0001t0002g0314 a0001c0001t0002g0264 a0001c0001t0002g0314	2	328	0.0061	32	c.67+ others(49): Show c.67+20895_67+20896insATATATATATATTTTTTTTTTTTTTTTT TTTT	JAM2	ENSG00000154721.15	transcript	ENST00000480456.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
JARID2_chr6_15241069_15527042	15469368	T T	TTCTCCCC others(25): Show TTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01261.hp1 HG00323.hp2 HG01261.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0019 a0001c0001 a0003c0019	a0001c0001t0001 a0003c0019t0001 a0001c0001t0001 a0003c0019t0001	a0001c0001t0001g0257 a0003c0019t0001g0154 a0001c0001t0001g0257 a0003c0019t0001g0154	2	284	0.0070	32	c.670 others(47): Show c.670+675_670+676insCTCCCCCTCTCCCCCTCTCCCCCTCTCCCC CT	JARID2	ENSG00000008083.14	transcript	ENST00000341776.7	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
JARID2_chr6_15241069_15527042	15469386	C C	CTCCCCCT others(25): Show CTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0270 a0001c0002t0001g0270	1	284	0.0035	32	c.670 others(47): Show c.670+675_670+676insCTCCCCCTCTCCCCCTCTCCCCCTTTCCCC CT	JARID2	ENSG00000008083.14	transcript	ENST00000341776.7	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
JAZF1_chr7_27825577_28185795	27849752	G G	GACACAGA others(25): Show GACACAGACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG03139.hp1 HG03704.hp2 HG01256.hp2 HG03139.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0137 a0001c0001t0002g0010 a0001c0001t0002g0031 a0001c0001t0001g0137 a0001c0001t0002g0010 a0001c0001t0002g0031	3	206	0.0146	32	c.386 others(49): Show c.386-8886_386-8885insGTGTGTGTGTGTGTGTGTGTGTGTGTCT GTGT	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	3/4			chr7	TogoVar
JAZF1_chr7_27825577_28185795	27849772	C C	CACACACA others(25): Show CACACACACACACACACACACACACACACATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02486.hp2 HG03195.hp2 others(3): Show HG02280.hp2 HG02486.hp2 HG03195.hp2 NA18984.hp1 NA18990.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0181 a0001c0001t0001g0200 a0001c0001t0001g0205 others(3): Show a0001c0001t0001g0181 a0001c0001t0001g0200 a0001c0001t0001g0205 a0001c0001t0002g0034 a0001c0001t0002g0045 a0001c0001t0002g0050	6	206	0.0291	32	c.386 others(49): Show c.386-8906_386-8905insATATGTGTGTGTGTGTGTGTGTGTGTGT GTGT	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	3/4			chr7	TogoVar
JCAD_chr10_30007803_30064586	30031049	A A	AATTTTAC others(25): Show AATTTTACCATTAAATTTACTTGTAAAATATAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03209.hp2 HG01884.hp1 HG03209.hp2	a0022 a0025 a0022 a0025	a0022c0034 a0025c0032 a0022c0034 a0025c0032	a0022c0034t0065 a0025c0032t0061 a0022c0034t0065 a0025c0032t0061	a0022c0034t0065g0200 a0025c0032t0061g0084 a0022c0034t0065g0200 a0025c0032t0061g0084	2	398	0.0050	32	c.282 others(49): Show c.282-1184_282-1183insGTATATTTTACAAGTAAATTTAATGGTA AAAT	JCAD	ENSG00000165757.9	transcript	ENST00000375377.2	protein_coding	2/3			chr10	TogoVar
JKAMP_chr14_59479517_59510410	59502752	T T	TTTTGTTT others(25): Show TTTTGTTTTGTTTTGTTTTGTTTTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp2 HG00735.hp2 others(37): Show HG00140.hp1 HG00639.hp2 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01081.hp2 HG01168.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01891.hp2 HG01928.hp1 HG01978.hp1 HG02280.hp1 HG02602.hp2 HG02630.hp1 HG02723.hp1 HG02818.hp2 HG02886.hp1 HG03098.hp2 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03516.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04228.hp1 HG06807.hp1 NA18950.hp2 NA18969.hp1 NA18973.hp1 NA18989.hp1 NA19009.hp2 NA19011.hp1 NA19060.hp1 NA19067.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0019 others(13): Show a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0019 a0001c0001t0002g0035 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0001t0002g0060 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0081 a0001c0001t0002g0084	40	358	0.1117	32	c.718 others(49): Show c.718-1099_718-1098insGTTTTGTTTTGTTTTGTTTTTTTGTTTT GTTT	JKAMP	ENSG00000050130.18	transcript	ENST00000616435.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
JKAMP_chr14_59479517_59510410	59508399	T T	TACACACA others(25): Show TACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	1	358	0.0028	32	c.43 others(43): Show c.4327_*4328insACACACACACACACACACACACACACACACAC	JKAMP	ENSG00000050130.18	transcript	ENST00000616435.5	protein_coding		2990		chr14	TogoVar
JMJD1C_chr10_63162225_63470977	63449005	T T	TACTCAGG others(25): Show TACTCAGGAGGCTGAGACGGGAGAATCACTTGA	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	310	0.0032	32	c.168 others(51): Show c.168+16458_168+16489dupTCAAGTGATTCTCCCGTCTCAGCCTC CTGAGT	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	1/25			chr10	TogoVar
JMJD7_chr15_41823092_41842581	41833414	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02074.hp2 HG03017.hp1 HG01981.hp1 HG02074.hp2 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0035 a0001c0001t0002g0163 a0001c0001t0010g0035 a0001c0001t0002g0035 a0001c0001t0002g0163 a0001c0001t0010g0035	3	386	0.0078	32	c.65- others(47): Show c.65-1325_65-1324insATATATATATATATATATATATATATTTTT TT	JMJD7	ENSG00000243789.11	transcript	ENST00000397299.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
JMJD7_chr15_41823092_41842581	41833414	A A	ATATATAT others(25): Show ATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01256.hp1 HG01243.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0139 a0001c0001t0002g0110 a0001c0001t0002g0139	2	386	0.0052	32	c.65- others(47): Show c.65-1325_65-1324insATATATATATATATATATATATTTTTTTTT TT	JMJD7	ENSG00000243789.11	transcript	ENST00000397299.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
JMJD7_chr15_41823092_41842581	41833414	A A	ATATATAT others(25): Show ATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 NA19064.hp2 HG00099.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0143 a0001c0001t0002g0111 a0001c0001t0002g0143	2	386	0.0052	32	c.65- others(47): Show c.65-1325_65-1324insATATATATATATATATATATTTTTTTTTTT TT	JMJD7	ENSG00000243789.11	transcript	ENST00000397299.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
JOSD1_chr22_38680543_38705943	38689912	C C	CTGTGTGT others(25): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18991.hp2 NA18962.hp2 NA18991.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0004 a0001c0002 a0003c0004	a0001c0002t0002 a0003c0004t0002 a0001c0002t0002 a0003c0004t0002	a0001c0002t0002g0101 a0003c0004t0002g0097 a0001c0002t0002g0101 a0003c0004t0002g0097	2	376	0.0053	32	c.186 others(47): Show c.186-520_186-489dupCACACACACACACACACACACACACACACA CA	JOSD1	ENSG00000100221.11	transcript	ENST00000683374.1	protein_coding	2/4			chr22	TogoVar
JPH1_chr8_74229700_74326540	74296019	G G	GACACACA others(25): Show GACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00741.hp2 HG01346.hp1 others(13): Show HG00099.hp1 HG00741.hp2 HG01346.hp1 HG01952.hp1 HG02602.hp2 HG02738.hp2 HG02895.hp2 HG02897.hp1 HG03688.hp2 HG03834.hp1 HG04204.hp1 NA18989.hp1 NA18993.hp2 NA19003.hp1 NA19080.hp2 homoSapiens_chm13v2.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0010 a0001c0001 a0007c0010	a0001c0001t0001 a0001c0001t0002 a0007c0010t0002 a0001c0001t0001 a0001c0001t0002 a0007c0010t0002	a0001c0001t0001g0192 a0001c0001t0001g0209 a0001c0001t0001g0215 others(12): Show a0001c0001t0001g0192 a0001c0001t0001g0209 a0001c0001t0001g0215 a0001c0001t0002g0017 a0001c0001t0002g0080 a0001c0001t0002g0136 a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0216 a0001c0001t0002g0224 a0007c0010t0002g0210	16	330	0.0485	32	c.113 others(53): Show c.1139+18841_1139+18842insGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	JPH1	ENSG00000104369.5	transcript	ENST00000342232.5	protein_coding	2/5			chr8	TogoVar
JPH2_chr20_44101590_44192188	44126168	G G	GAGGGAGG others(25): Show GAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA19091.hp1 HG02258.hp1 NA19091.hp1	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0033 a0002c0005t0039 a0002c0002t0033 a0002c0005t0039	a0002c0002t0033g0303 a0002c0005t0039g0003 a0002c0002t0033g0303 a0002c0005t0039g0003	2	338	0.0059	32	c.117 others(51): Show c.1170-7546_1170-7545insTCCTTCCTTCCTTCCTTCCTTCCTCC CTCCCT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44126168	G G	GAGGGAGG others(25): Show GAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00673.hp1 HG01258.hp1 others(6): Show HG00140.hp1 HG00673.hp1 HG01258.hp1 HG01346.hp1 HG01975.hp1 HG02129.hp2 HG02717.hp2 HG03017.hp2 NA18964.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(2): Show a0001c0001 a0001c0003 a0001c0006 a0001c0012 a0002c0002	a0001c0001t0007 a0001c0003t0099 a0001c0006t0011 others(4): Show a0001c0001t0007 a0001c0003t0099 a0001c0006t0011 a0001c0006t0032 a0001c0006t0106 a0001c0012t0032 a0002c0002t0018	a0001c0001t0007g0297 a0001c0001t0007g0298 a0001c0003t0099g0197 others(6): Show a0001c0001t0007g0297 a0001c0001t0007g0298 a0001c0003t0099g0197 a0001c0006t0011g0149 a0001c0006t0011g0160 a0001c0006t0032g0306 a0001c0006t0106g0322 a0001c0012t0032g0293 a0002c0002t0018g0124	9	338	0.0266	32	c.117 others(51): Show c.1170-7546_1170-7545insTCCTTCCTTCCTTCCTTCCTCCCTCC CTCCCT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44126168	G G	GAGGGAGG others(25): Show GAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00738.hp2 HG01069.hp1 others(13): Show HG00544.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG02056.hp1 HG02257.hp1 HG02602.hp1 HG03471.hp1 HG03669.hp1 HG03927.hp2 NA18943.hp1 NA18983.hp2 NA19003.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(4): Show a0001c0001 a0001c0003 a0001c0006 a0002c0002 a0002c0005 a0002c0010 a0002c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0063 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0063 a0001c0003t0040 a0001c0006t0011 a0001c0006t0032 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0002c0002t0015 a0002c0005t0004 a0002c0010t0016 a0002c0025t0045	a0001c0001t0001g0286 a0001c0001t0002g0095 a0001c0001t0002g0096 others(13): Show a0001c0001t0001g0286 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0063g0116 a0001c0003t0040g0004 a0001c0006t0011g0170 a0001c0006t0032g0311 a0002c0002t0003g0026 a0002c0002t0004g0237 a0002c0002t0006g0155 a0002c0002t0006g0156 a0002c0002t0006g0157 a0002c0002t0015g0107 a0002c0005t0004g0194 a0002c0010t0016g0103 a0002c0025t0045g0079	16	338	0.0473	32	c.117 others(51): Show c.1170-7546_1170-7545insTCCTTCCTTCCTTCCTCCCTCCCTCC CTCCCT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44133953	A A	ATATTTAT others(25): Show ATATTTATTATAAATATATAAATATATATTTAT	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0057 a0001c0001t0003g0057	1	338	0.0030	32	c.117 others(53): Show c.1170-15331_1170-15330insATAAATATATATTTATATATTTAT AATAAATA	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JTB_chr1_153969269_153982674	153982066	C C	CCACAAAC others(25): Show CCACAAACACAAACCAAAACCCAAAAACCACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	386	0.0026	32	c.-48 others(43): Show c.-4815_-4814insTTGTGGTTTTTGGGTTTTGGTTTGTGTTTGTG	JTB	ENSG00000143543.15	transcript	ENST00000271843.9	protein_coding		4393		chr1	TogoVar
KALRN_chr3_124028369_124731325	124109883	G G	GATATATA others(25): Show GATATATATATGACATATATGTCATGCTTTGAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0112 a0001c0001t0003g0112	1	116	0.0086	32	c.73+ others(49): Show c.73+76089_73+76090insGTCATGCTTTGATATATATATATGACAT ATAT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	1/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124109943	G G	GATATATA others(25): Show GATATATATATGACATATATGTCATACTTTGAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18983.hp1 NA18522.hp1 NA18983.hp1	a0001 a0001	a0001c0062 a0001c0066 a0001c0062 a0001c0066	a0001c0062t0019 a0001c0066t0001 a0001c0062t0019 a0001c0066t0001	a0001c0062t0019g0074 a0001c0066t0001g0055 a0001c0062t0019g0074 a0001c0066t0001g0055	2	116	0.0172	32	c.73+ others(49): Show c.73+76138_73+76139insATGACATATATGTCATACTTTGATATAT ATAT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	1/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124110027	G G	GATATATA others(25): Show GATATATATATGACATATATGTCATACTTTGAT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0010	1	116	0.0086	32	c.73+ others(49): Show c.73+76222_73+76223insATGACATATATGTCATACTTTGATATAT ATAT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	1/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124265298	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0002 a0001c0046t0002	a0001c0046t0002g0095 a0001c0046t0002g0095	1	116	0.0086	32	c.456 others(47): Show c.456+622_456+623insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	4/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KANK3_chr19_8317584_8348262	8340291	T T	TATATATA others(25): Show TATATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0045 a0003c0003t0001g0045	1	406	0.0025	32	c.-28 others(49): Show c.-28-2436_-28-2435insGTGTGTGTATATATATATATATATATAT ATAT	KANK3	ENSG00000186994.12	transcript	ENST00000330915.7	protein_coding	1/10			chr19	TogoVar
KANK3_chr19_8317584_8348262	8340291	T T	TATATATA others(25): Show TATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18949.hp1 HG00673.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0213 a0001c0001t0001g0214	2	406	0.0049	32	c.-28 others(49): Show c.-28-2436_-28-2435insGTGTGTATATATATATATATATATATAT ATAT	KANK3	ENSG00000186994.12	transcript	ENST00000330915.7	protein_coding	1/10			chr19	TogoVar
KANK3_chr19_8317584_8348262	8340291	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	406	0.0025	32	c.-28 others(49): Show c.-28-2436_-28-2435insGTGTATATATATATATATATATATATAT ATAT	KANK3	ENSG00000186994.12	transcript	ENST00000330915.7	protein_coding	1/10			chr19	TogoVar
KANSL1_chr17_46024916_46198429	46045440	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0309 a0003c0004t0005g0309	1	321	0.0031	32	c.202 others(51): Show c.2020+5092_2020+5093insATATATATATATATATATATTTTTTT TTTTTT	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	7/14			chr17	TogoVar
KANSL1_chr17_46024916_46198429	46096311	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 NA19064.hp2 HG00280.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0161 a0001c0001t0002g0158 a0001c0001t0002g0161	2	321	0.0062	32	c.129 others(51): Show c.1290-1611_1290-1610insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	2/14			chr17	TogoVar
KANSL2_chr12_48648211_48687238	48672393	G G	GTATATAT others(25): Show GTATATATATATACGTATATATATATACATGTA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0146 a0002c0004t0001g0146	1	322	0.0031	32	c.546 others(47): Show c.546-432_546-431insTACATGTATATATATATACGTATATATATA TA	KANSL2	ENSG00000139620.13	transcript	ENST00000420613.7	protein_coding	4/9			chr12	TogoVar
KARS1_chr16_75622724_75652665	75624114	C C	CACATATA others(25): Show CACATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0266 a0002c0002t0001g0266	1	380	0.0026	32	c.37 others(43): Show c.3780_*3781insATATATATATATATATATATATATATATATGT	KARS1	ENSG00000065427.15	transcript	ENST00000302445.8	protein_coding		3609		chr16	TogoVar
KARS1_chr16_75622724_75652665	75624133	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	380	0.0026	32	c.37 others(43): Show c.3761_*3762insAAAATATATATATATATATATATATATATATA	KARS1	ENSG00000065427.15	transcript	ENST00000302445.8	protein_coding		3590		chr16	TogoVar
KAT2B_chr3_20035446_20159404	20062237	A A	AAATATAT others(25): Show AAATATATAATATATAAAATATATGATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00642.hp2 others(28): Show HG00099.hp2 HG00323.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG01099.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01346.hp2 HG01433.hp2 HG01515.hp2 HG01928.hp2 HG01934.hp2 HG01993.hp1 HG02257.hp1 HG02300.hp1 HG02602.hp2 HG02683.hp2 HG02698.hp1 HG03491.hp1 HG03492.hp2 HG03540.hp2 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG03927.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0009 a0001 a0005 a0009	a0001c0002 a0001c0004 a0005c0010 others(1): Show a0001c0002 a0001c0004 a0005c0010 a0009c0014	a0001c0002t0002 a0001c0004t0001 a0001c0004t0004 others(4): Show a0001c0002t0002 a0001c0004t0001 a0001c0004t0004 a0001c0004t0007 a0001c0004t0010 a0005c0010t0001 a0009c0014t0001	a0001c0002t0002g0176 a0001c0002t0002g0179 a0001c0002t0002g0184 others(28): Show a0001c0002t0002g0176 a0001c0002t0002g0179 a0001c0002t0002g0184 a0001c0002t0002g0185 a0001c0002t0002g0186 a0001c0002t0002g0189 a0001c0004t0001g0074 a0001c0004t0001g0093 a0001c0004t0001g0161 a0001c0004t0001g0162 a0001c0004t0001g0165 a0001c0004t0001g0166 a0001c0004t0001g0168 a0001c0004t0001g0174 a0001c0004t0001g0191 a0001c0004t0001g0194 a0001c0004t0001g0204 a0001c0004t0001g0246 a0001c0004t0001g0276 a0001c0004t0001g0292 a0001c0004t0001g0328 a0001c0004t0004g0232 a0001c0004t0004g0233 a0001c0004t0007g0175 a0001c0004t0007g0200 a0001c0004t0007g0251 a0001c0004t0007g0252 a0001c0004t0007g0253 a0001c0004t0010g0167 a0005c0010t0001g0368 a0009c0014t0001g0043	31	374	0.0829	32	c.304 others(51): Show c.304-10075_304-10074insATGATATATATAATATATAATATATA AAATAT	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT2B_chr3_20035446_20159404	20081878	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02055.hp2 HG02965.hp2 HG01109.hp1 HG02055.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0009 a0001c0001t0004g0024 a0001c0001t0004g0028 a0001c0001t0004g0009 a0001c0001t0004g0024 a0001c0001t0004g0028	3	374	0.0080	32	c.430 others(49): Show c.430+9431_430+9432insATATATATATATATATATATATATATAT ATAT	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT2B_chr3_20035446_20159404	20149495	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01175.hp2 HG02004.hp2 others(1): Show HG01069.hp1 HG01175.hp2 HG02004.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002	a0001c0001t0002g0254 a0001c0001t0002g0274 a0001c0002t0001g0203 others(1): Show a0001c0001t0002g0254 a0001c0001t0002g0274 a0001c0002t0001g0203 a0001c0002t0002g0164	4	374	0.0107	32	c.230 others(51): Show c.2305+1033_2305+1034insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KATNA1_chr6_149589873_149653714	149592667	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0146 a0002c0003t0007g0146	1	296	0.0034	32	c.23 others(43): Show c.2368_*2369insATATATATATATATATATATTTTTTTTTTTTT	KATNA1	ENSG00000186625.14	transcript	ENST00000367411.7	protein_coding		2205		chr6	TogoVar
KATNBL1_chr15_34135674_34215096	34181585	T T	TATATATG others(25): Show TATATATGTCCATATATATATCCATATATATAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02572.hp2 HG02647.hp2 others(3): Show HG02258.hp2 HG02572.hp2 HG02647.hp2 HG02897.hp1 HG03139.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0235 a0001c0001t0004g0236 a0001c0001t0004g0237 others(3): Show a0001c0001t0004g0235 a0001c0001t0004g0236 a0001c0001t0004g0237 a0001c0001t0004g0238 a0001c0001t0004g0239 a0001c0001t0004g0240	6	344	0.0174	32	c.-14 others(51): Show c.-14-17896_-14-17895insGTATATATATGGATATATATATGGAC ATATAT	KATNBL1	ENSG00000134152.11	transcript	ENST00000256544.8	protein_coding	1/9			chr15	TogoVar
KAZN_chr1_14593685_15123043	14695510	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0078 a0002c0002t0001g0078	1	146	0.0069	32	c.226 others(51): Show c.226+96302_226+96303insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14883340	G G	GAGAGAGA others(25): Show GAGAGAGAGAGAGAGAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0058 a0002c0002t0001g0058	1	146	0.0069	32	c.227 others(51): Show c.227-77341_227-77340insGAGAGAGAGAGAAGAAAGAAAGAAAG AAAAGA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14883340	G G	GAGAGAGA others(25): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA20129.hp1 NA18942.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0022 a0002c0002t0001 a0002c0002t0022	a0002c0002t0001g0015 a0002c0002t0022g0077 a0002c0002t0001g0015 a0002c0002t0022g0077	2	146	0.0137	32	c.227 others(51): Show c.227-77341_227-77340insGAGAGAGAGAGAGAGAGAGAGAGAGA GAAAGA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14883343	A A	AGAGAGAG others(25): Show AGAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	146	0.0069	32	c.227 others(51): Show c.227-77341_227-77340insGAGAGAGGGAGGGAGGGAGGGAGGGA GGGAGG	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14			chr1	TogoVar

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