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
CLEC10A_chr17_7069537_7085251	7070600	A A	AAAAGAAA others(15): Show AAAAGAAAGAAAAGAAAGAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02809.hp2 HG03209.hp1 others(2): Show HG02109.hp2 HG02809.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0001 a0001c0003t0005 a0001c0004t0001 a0001c0002t0001 a0001c0003t0005 a0001c0004t0001	a0001c0002t0001g0002 a0001c0002t0001g0007 a0001c0003t0005g0010 others(2): Show a0001c0002t0001g0002 a0001c0002t0001g0007 a0001c0003t0005g0010 a0001c0004t0001g0037 a0001c0004t0001g0079	5	458	0.0109	22	c.44 others(33): Show c.4453_*4454insCTTTTCTTTCTTTTCTTTCTTT	CLEC10A	ENSG00000132514.14	transcript	ENST00000416562.7	protein_coding		3936		chr17	TogoVar
CLEC16A_chr16_10939564_11187186	11036544	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0016 a0001c0007t0016	a0001c0007t0016g0146 a0001c0007t0016g0146	1	274	0.0037	22	c.153 others(41): Show c.1538-3209_1538-3188dupTTTTTTTTTTTTTTTTTTTTTT	CLEC16A	ENSG00000038532.17	transcript	ENST00000409790.6	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CLEC16A_chr16_10939564_11187186	11092361	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA19074.hp1 NA18947.hp2 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0034 a0001c0002t0001 a0001c0002t0034	a0001c0002t0001g0257 a0001c0002t0034g0254 a0001c0002t0001g0257 a0001c0002t0034g0254	2	274	0.0073	22	c.211 others(43): Show c.2117-28234_2117-28213dupCACACACACACACACACACACA	CLEC16A	ENSG00000038532.17	transcript	ENST00000409790.6	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CLEC17A_chr19_14578084_14617035	14591898	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0089 a0002c0002t0005g0089	1	364	0.0028	22	c.200 others(37): Show c.200-367_200-346dupGTGTGTGTGTGTGTGTGTGTGT	CLEC17A	ENSG00000187912.12	transcript	ENST00000417570.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
CLEC2B_chr12_9847369_9874354	9853071	A A	AAGAAAGA others(15): Show AAGAAAGAAAGAAAGAAAGAAAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0135 a0001c0001t0070g0135	1	454	0.0022	22	c.22 others(31): Show c.228_*229insCTTTCTTTCTTTCTTTCTTTCT	CLEC2B	ENSG00000110852.5	transcript	ENST00000228438.3	protein_coding	5/5	228		chr12	TogoVar
CLEC4A_chr12_8118617_8143607	8135047	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	458	0.0022	22	c.299 others(37): Show c.299-537_299-516dupTTTTTTTTTTTTTTTTTTTTTT	CLEC4A	ENSG00000111729.15	transcript	ENST00000229332.12	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
CLEC4G_chr19_7723957_7737110	7732902	A A	AATATATA others(15): Show AATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	432	0.0023	22	c.-80 others(31): Show c.-801_-800insATATATATATATATATATATAT	CLEC4G	ENSG00000182566.15	transcript	ENST00000328853.11	protein_coding		793		chr19	TogoVar
CLEC4G_chr19_7723957_7737110	7732906	A A	AAAAAAAA others(15): Show AAAAAAAAAAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp1 NA18969.hp1 HG01517.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	2	432	0.0046	22	c.-80 others(31): Show c.-805_-804insATATATATATATTTTTTTTTTT	CLEC4G	ENSG00000182566.15	transcript	ENST00000328853.11	protein_coding		797		chr19	TogoVar
CLEC4G_chr19_7723957_7737110	7732906	A A	AAAAAAAA others(15): Show AAAAAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19054.hp1 NA19087.hp2 NA19054.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	432	0.0046	22	c.-80 others(31): Show c.-805_-804insATATATATATATATATTTTTTT	CLEC4G	ENSG00000182566.15	transcript	ENST00000328853.11	protein_coding		797		chr19	TogoVar
CLEC4G_chr19_7723957_7737110	7732906	A A	AAAAAATA others(15): Show AAAAAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	432	0.0023	22	c.-80 others(31): Show c.-805_-804insATATATATATATATATATTTTT	CLEC4G	ENSG00000182566.15	transcript	ENST00000328853.11	protein_coding		797		chr19	TogoVar
CLEC4G_chr19_7723957_7737110	7732906	A A	AAAATATA others(15): Show AAAATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0008 a0001c0004t0001g0008	1	432	0.0023	22	c.-80 others(31): Show c.-805_-804insATATATATATATATATATATTT	CLEC4G	ENSG00000182566.15	transcript	ENST00000328853.11	protein_coding		797		chr19	TogoVar
CLEC4G_chr19_7723957_7737110	7736483	T T	TCCTTCCT others(15): Show TCCTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0006 a0001c0003t0001g0006	1	432	0.0023	22	c.-43 others(33): Show c.-4382_-4381insGGAAGGAAGGAAGGAAGGAAGG	CLEC4G	ENSG00000182566.15	transcript	ENST00000328853.11	protein_coding		4374		chr19	TogoVar
CLEC6A_chr12_8450962_8483330	8472994	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp2 HG02109.hp1 others(2): Show HG01891.hp1 HG02055.hp2 HG02109.hp1 HG02145.hp2 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0001t0002 a0001c0001t0006 a0001c0001t0010	a0001c0001t0002g0023 a0001c0001t0002g0113 a0001c0001t0006g0120 others(1): Show a0001c0001t0002g0023 a0001c0001t0002g0113 a0001c0001t0006g0120 a0001c0001t0010g0023	5	334	0.0150	22	c.370 others(39): Show c.370-3112_370-3111insTTTTTTTTTTTTTTTTTTTTTT	CLEC6A	ENSG00000205846.4	transcript	ENST00000382073.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
CLHC1_chr2_55167547_55237293	55217552	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0151 a0002c0001t0005g0151	1	404	0.0025	22	c.365 others(37): Show c.365+237_365+258dupATATATATATATATATATATAT	CLHC1	ENSG00000162994.16	transcript	ENST00000401408.6	protein_coding	4/12			chr2	TogoVar
CLIC2_chrX_155271211_155339614	155297860	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0156	1	258	0.0039	22	c.293 others(37): Show c.293+903_293+924dupTTTTTTTTTTTTTTTTTTTTTT	CLIC2	ENSG00000155962.13	transcript	ENST00000369449.7	protein_coding	3/5			chrX	TogoVar
CLIC2_chrX_155271211_155339614	155297884	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA19084.hp1 NA18747.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0081 a0001c0001t0001g0085	2	258	0.0078	22	c.293 others(37): Show c.293+900_293+901insCTTTTTTTTTTTTTTTTTTTTT	CLIC2	ENSG00000155962.13	transcript	ENST00000369449.7	protein_coding	3/5			chrX	TogoVar
CLIC4_chr1_24740447_24849321	24775175	T T	TTTTTTTC others(15): Show TTTTTTTCTAGCTACCGTGAAGA	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0193 a0001c0001t0002g0193	1	344	0.0029	22	c.73- others(39): Show c.73-22562_73-22541dupTTCTAGCTACCGTGAAGATTTT	CLIC4	ENSG00000169504.15	transcript	ENST00000374379.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CLIC4_chr1_24740447_24849321	24820067	G G	GTGTATAT others(15): Show GTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01261.hp1 HG01516.hp1 others(2): Show HG00738.hp2 HG01261.hp1 HG01516.hp1 HG01981.hp1 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0299 others(2): Show a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0299 a0001c0001t0001g0302 a0001c0001t0001g0323	5	344	0.0145	22	c.308 others(39): Show c.308+5849_308+5850insGTATATATATATATATATATAT	CLIC4	ENSG00000169504.15	transcript	ENST00000374379.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CLIC4_chr1_24740447_24849321	24820067	G G	GTGTGTAT others(15): Show GTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01109.hp2 HG01258.hp1 others(5): Show HG01081.hp1 HG01109.hp2 HG01258.hp1 HG02698.hp1 HG02965.hp1 HG03710.hp2 NA18947.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0031 a0001c0001t0001g0037 a0001c0001t0001g0058 others(5): Show a0001c0001t0001g0031 a0001c0001t0001g0037 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0078 a0001c0001t0001g0282 a0001c0001t0001g0313 a0001c0001t0016g0087	8	344	0.0233	22	c.308 others(39): Show c.308+5849_308+5850insGTGTATATATATATATATATAT	CLIC4	ENSG00000169504.15	transcript	ENST00000374379.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CLIC4_chr1_24740447_24849321	24820067	G G	GTGTGTAT others(15): Show GTGTGTATATATATGTATATATA	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	344	0.0029	22	c.308 others(39): Show c.308+5849_308+5850insGTGTATATATATGTATATATAT	CLIC4	ENSG00000169504.15	transcript	ENST00000374379.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CLIC5_chr6_45893456_46020860	45958441	T T	TATATACA others(15): Show TATATACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01109.hp1 HG01358.hp1 others(1): Show HG00408.hp1 HG01109.hp1 HG01358.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0002g0125 a0001c0001t0002g0188 a0001c0001t0003g0181 others(1): Show a0001c0001t0002g0125 a0001c0001t0002g0188 a0001c0001t0003g0181 a0001c0001t0005g0146	4	340	0.0118	22	c.64- others(37): Show c.64-3198_64-3197insGTGTGTGTGTGTGTGTGTATAT	CLIC5	ENSG00000112782.19	transcript	ENST00000339561.12	protein_coding	1/5			chr6	TogoVar
CLIC5_chr6_45893456_46020860	45958443	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03130.hp1 NA20129.hp2 HG02630.hp1 HG03130.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0007g0254 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0007g0254	3	340	0.0088	22	c.64- others(37): Show c.64-3200_64-3199insGTGTGTGTGTGTGTGTGTGTGT	CLIC5	ENSG00000112782.19	transcript	ENST00000339561.12	protein_coding	1/5			chr6	TogoVar
CLIC5_chr6_45893456_46020860	45958443	T T	TATACACA others(15): Show TATACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0333 a0001c0001t0002g0333	1	340	0.0029	22	c.64- others(37): Show c.64-3200_64-3199insGTGTGTGTGTGTGTGTGTGTAT	CLIC5	ENSG00000112782.19	transcript	ENST00000339561.12	protein_coding	1/5			chr6	TogoVar
CLIC6_chr21_34663994_34723223	34707437	G G	GCACACAC others(15): Show GCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02922.hp2 HG03516.hp2 HG02559.hp2 HG02922.hp2 HG03516.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0025 a0001c0012t0045 a0001c0012t0025 a0001c0012t0045	a0001c0012t0025g0190 a0001c0012t0025g0196 a0001c0012t0045g0191 a0001c0012t0025g0190 a0001c0012t0025g0196 a0001c0012t0045g0191	3	312	0.0096	22	c.148 others(37): Show c.1484+60_1484+81dupACACACACACACACACACACAC	CLIC6	ENSG00000159212.13	transcript	ENST00000349499.3	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CLIC6_chr21_34663994_34723223	34716862	T T	TCTCTCTA others(15): Show TCTCTCTATCACACACACACACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0050 a0004c0006t0050	a0004c0006t0050g0193 a0004c0006t0050g0193	1	312	0.0032	22	c.38 others(31): Show c.381_*382insTCTCTATCACACACACACACAC	CLIC6	ENSG00000159212.13	transcript	ENST00000349499.3	protein_coding	6/6	382	INFO_REALIGN_3_PRIME	chr21	TogoVar
CLIC6_chr21_34663994_34723223	34716862	T T	TCTCTCTC others(15): Show TCTCTCTCTATCACACACACACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0004 a0004	a0004c0030 a0004c0030	a0004c0030t0077 a0004c0030t0077	a0004c0030t0077g0132 a0004c0030t0077g0132	1	312	0.0032	22	c.38 others(31): Show c.381_*382insTCTCTCTATCACACACACACAC	CLIC6	ENSG00000159212.13	transcript	ENST00000349499.3	protein_coding	6/6	382	INFO_REALIGN_3_PRIME	chr21	TogoVar
CLIC6_chr21_34663994_34723223	34716863	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTCTCTA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp2 HG02647.hp1 HG01891.hp2 HG02647.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0030 a0002c0009t0030	a0002c0009t0030g0212 a0002c0009t0030g0213 a0002c0009t0030g0212 a0002c0009t0030g0213	2	312	0.0064	22	c.38 others(31): Show c.381_*382insTCTCTCTCTCTCTCTCTCTCTA	CLIC6	ENSG00000159212.13	transcript	ENST00000349499.3	protein_coding	6/6	382		chr21	TogoVar
CLIP1_chr12_122266469_122427669	122276382	C C	CCACACAC others(15): Show CCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02622.hp2 NA18906.hp1 HG02280.hp2 HG02622.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0006 a0001c0010t0004 a0001c0001t0006 a0001c0010t0004	a0001c0001t0006g0221 a0001c0001t0006g0227 a0001c0010t0004g0009 a0001c0001t0006g0221 a0001c0001t0006g0227 a0001c0010t0004g0009	3	234	0.0128	22	c.396 others(41): Show c.3966+1750_3966+1771dupTGTGTGTGTGTGTGTGTGTGTG	CLIP1	ENSG00000130779.22	transcript	ENST00000620786.5	protein_coding	24/25			chr12	TogoVar
CLIP1_chr12_122266469_122427669	122293002	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03516.hp2 HG02976.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0019 a0001c0001t0004g0023 a0001c0001t0004g0019 a0001c0001t0004g0023	2	234	0.0086	22	c.359 others(41): Show c.3595-4462_3595-4461insTTTTTTTTTTTTTTTTTTTTTT	CLIP1	ENSG00000130779.22	transcript	ENST00000620786.5	protein_coding	20/25			chr12	TogoVar
CLIP1_chr12_122266469_122427669	122330597	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTGTTTGTTTT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	234	0.0043	22	c.286 others(41): Show c.2868-2172_2868-2171insAAAACAAACAAAAAAAAAAAAA	CLIP1	ENSG00000130779.22	transcript	ENST00000620786.5	protein_coding	15/25			chr12	TogoVar
CLIP1_chr12_122266469_122427669	122330597	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTGTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02280.hp1 HG02717.hp1 others(5): Show HG01099.hp1 HG02280.hp1 HG02717.hp1 HG02717.hp2 HG02970.hp1 HG03098.hp1 NA18906.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 a0001c0001t0001 a0001c0001t0006 a0001c0001t0010	a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0006g0223 others(5): Show a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0006g0223 a0001c0001t0006g0225 a0001c0001t0006g0227 a0001c0001t0006g0228 a0001c0001t0006g0229 a0001c0001t0010g0219	8	234	0.0342	22	c.286 others(41): Show c.2868-2172_2868-2171insAAAAAAAACAAAAAAAAAAAAA	CLIP1	ENSG00000130779.22	transcript	ENST00000620786.5	protein_coding	15/25			chr12	TogoVar
CLIP1_chr12_122266469_122427669	122379943	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0204 a0001c0001t0002g0204	1	234	0.0043	22	c.85+ others(35): Show c.85+424_85+425insTTTTTTTTTTTTTTTTTTTTTT	CLIP1	ENSG00000130779.22	transcript	ENST00000620786.5	protein_coding	2/25			chr12	TogoVar
CLIP1_chr12_122266469_122427669	122387590	A A	ATATATAT others(15): Show ATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0200 a0001c0001t0002g0200	1	234	0.0043	22	c.-10 others(41): Show c.-106-7033_-106-7032insAAAATATATATATATATATATA	CLIP1	ENSG00000130779.22	transcript	ENST00000620786.5	protein_coding	1/25			chr12	TogoVar
CLIP1_chr12_122266469_122427669	122393912	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0011 a0007c0008t0011	a0007c0008t0011g0226 a0007c0008t0011g0226	1	234	0.0043	22	c.-10 others(43): Show c.-106-13355_-106-13354insTTTTTTTTTTTTTTTTTTTTTT	CLIP1	ENSG00000130779.22	transcript	ENST00000620786.5	protein_coding	1/25			chr12	TogoVar
CLMN_chr14_95176940_95324908	95319911	C C	CGGGCGCG others(15): Show CGGGCGCGGGCGGGGCGCGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0060 a0001c0002t0060	a0001c0002t0060g0044 a0001c0002t0060g0044	1	276	0.0036	22	c.-12 others(31): Show c.-120_-119insCGCCCGCGCCCCGCCCGCGCCC	CLMN	ENSG00000165959.12	transcript	ENST00000298912.9	protein_coding		4		chr14	TogoVar
CLMN_chr14_95176940_95324908	95319934	C C	CGGGCGGG others(15): Show CGGGCGGGGCGCGGGCGCGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	276	0.0036	22	c.-14 others(31): Show c.-143_-142insCGCCCGCGCCCGCGCCCCGCCC	CLMN	ENSG00000165959.12	transcript	ENST00000298912.9	protein_coding		27		chr14	TogoVar
CLMP_chr11_123064872_123200248	123150444	A A	AAAGAAAG others(15): Show AAAGAAAGAAAGAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	254	0.0039	22	c.28+ others(39): Show c.28+44468_28+44469insCTTCTTTCTTTCTTTCTTTCTT	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLN8_chr8_1758789_1791570	1763601	G G	GCGCCCCG others(15): Show GCGCCCCGCCCCCCGCCGCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01496.hp1 HG01993.hp2 others(11): Show HG01243.hp1 HG01496.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02145.hp2 HG02486.hp2 HG02735.hp1 HG03239.hp2 NA19054.hp2 NA19060.hp2 NA19082.hp1 NA19084.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0019 a0001c0001t0029 a0001c0001t0053 a0001c0001t0054 a0001c0001t0056	a0001c0001t0001g0140 a0001c0001t0002g0001 a0001c0001t0002g0151 others(6): Show a0001c0001t0001g0140 a0001c0001t0002g0001 a0001c0001t0002g0151 a0001c0001t0013g0147 a0001c0001t0019g0001 a0001c0001t0029g0142 a0001c0001t0053g0051 a0001c0001t0054g0051 a0001c0001t0056g0162	14	413	0.0339	22	c.-40 others(31): Show c.-408_-407insCGCCCCGCCCCCCGCCGCGCCC	CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding		187		chr8	TogoVar
CLN8_chr8_1758789_1791570	1763610	C C	CCCGCGCC others(15): Show CCCGCGCCCCGCCCCCCGCCGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	413	0.0024	22	c.-39 others(31): Show c.-399_-398insCCGCGCCCCGCCCCCCGCCGCG	CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding		178		chr8	TogoVar
CLNK_chr4_10481395_10689768	10578579	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18906.hp1 NA19088.hp1 NA18612.hp1 NA18906.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0165 a0001c0001t0002g0277 a0001c0001t0011g0020 a0001c0001t0002g0165 a0001c0001t0002g0277 a0001c0001t0011g0020	3	320	0.0094	22	c.112 others(39): Show c.112+6326_112+6347dupAAAAAAAAAAAAAAAAAAAAAA	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	4/18			chr4	TogoVar
CLNK_chr4_10481395_10689768	10655334	C C	CAGAGAGA others(15): Show CAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02148.hp2 NA18970.hp1 HG01081.hp1 HG02148.hp2 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0020 a0001c0001t0005 a0001c0001t0020	a0001c0001t0005g0263 a0001c0001t0020g0069 a0001c0001t0020g0076 a0001c0001t0005g0263 a0001c0001t0020g0069 a0001c0001t0020g0076	3	320	0.0094	22	c.11+ others(39): Show c.11+12503_11+12524dupCTCTCTCTCTCTCTCTCTCTCT	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	2/18			chr4	TogoVar
CLOCK_chr4_55422903_55551909	55445582	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 NA18998.hp2 NA19054.hp2 HG01361.hp1 NA18998.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0014t0001 a0001c0001t0001 a0001c0014t0001	a0001c0001t0001g0099 a0001c0001t0001g0139 a0001c0014t0001g0140 a0001c0001t0001g0099 a0001c0001t0001g0139 a0001c0014t0001g0140	3	338	0.0089	22	c.154 others(39): Show c.1540-819_1540-798dupAAAAAAAAAAAAAAAAAAAAAA	CLOCK	ENSG00000134852.15	transcript	ENST00000513440.6	protein_coding	18/22			chr4	TogoVar
CLPB_chr11_72280495_72439531	72377649	A A	AAAGGGGA others(15): Show AAAGGGGAAGGGAAGGGGAAGGG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp2 HG02109.hp1 others(10): Show HG01884.hp1 HG01884.hp2 HG02109.hp1 HG02486.hp1 HG02572.hp1 HG02615.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 NA18906.hp2 NA19030.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0020 a0001c0001t0035 a0001c0001t0036 others(8): Show a0001c0001t0020 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0040 a0001c0001t0053 a0001c0001t0069 a0001c0001t0070 a0001c0002t0009 a0001c0002t0028 a0001c0002t0096	a0001c0001t0020g0108 a0001c0001t0020g0114 a0001c0001t0035g0153 others(10): Show a0001c0001t0020g0108 a0001c0001t0020g0114 a0001c0001t0035g0153 a0001c0001t0036g0152 a0001c0001t0037g0151 a0001c0001t0040g0150 a0001c0001t0053g0019 a0001c0001t0069g0005 a0001c0001t0070g0004 a0001c0002t0009g0148 a0001c0002t0028g0100 a0001c0002t0028g0149 a0001c0002t0096g0099	13	206	0.0631	22	c.646 others(39): Show c.646+2610_646+2631dupCCCTTCCCCTTCCCTTCCCCTT	CLPB	ENSG00000162129.15	transcript	ENST00000294053.9	protein_coding	4/16			chr11	TogoVar
CLRN1_chr3_150921567_150977727	150969292	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0376 a0001c0003t0001g0376	1	408	0.0025	22	c.253 others(39): Show c.253+3142_253+3163dupATATATATATATATATATATAT	CLRN1	ENSG00000163646.12	transcript	ENST00000327047.6	protein_coding	1/2			chr3	TogoVar
CLRN1_chr3_150921567_150977727	150969313	A A	ATATATAT others(15): Show ATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0375 a0001c0003t0002g0375	1	408	0.0025	22	c.253 others(39): Show c.253+3142_253+3143insAATATATATATATATATATATA	CLRN1	ENSG00000163646.12	transcript	ENST00000327047.6	protein_coding	1/2			chr3	TogoVar
CLSTN2_chr3_139930185_140582397	139953931	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0105	1	110	0.0091	22	c.109 others(41): Show c.109+18450_109+18471dupGTGTGTGTGTGTGTGTGTGTGT	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLSTN2_chr3_139930185_140582397	139955112	C C	CTATATAT others(15): Show CTATATATACATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0025 a0001c0001t0006g0025	1	110	0.0091	22	c.109 others(41): Show c.109+19637_109+19638insCATATATATATATATATATATA	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLSTN2_chr3_139930185_140582397	139955112	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA19079.hp2 HG02572.hp2 NA19079.hp2	a0002 a0004 a0002 a0004	a0002c0004 a0004c0013 a0002c0004 a0004c0013	a0002c0004t0038 a0004c0013t0008 a0002c0004t0038 a0004c0013t0008	a0002c0004t0038g0108 a0004c0013t0008g0106 a0002c0004t0038g0108 a0004c0013t0008g0106	2	110	0.0182	22	c.109 others(41): Show c.109+19635_109+19656dupATATATATATATATATATATAT	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLSTN2_chr3_139930185_140582397	140076625	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0021 a0002c0021	a0002c0021t0009 a0002c0021t0009	a0002c0021t0009g0030 a0002c0021t0009g0030	1	110	0.0091	22	c.110 others(41): Show c.110-99319_110-99298dupTTTTTTTTTTTTTTTTTTTTTT	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLSTN2_chr3_139930185_140582397	140135117	C C	CACACACA others(15): Show CACACACACACATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	110	0.0091	22	c.110 others(41): Show c.110-40833_110-40832insCACACACACATATATATATATA	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr3	TogoVar

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