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
KRTAP10-7_chr21_44595597_44607174	44599134	T T	TTCTCTCT others(25): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 NA18980.hp2 NA20300.hp2 HG01975.hp2 NA18980.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	446	0.0067	32	c.-14 others(43): Show c.-1488_-1487insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	KRTAP10-7	ENSG00000272804.3	transcript	ENST00000609664.2	protein_coding		1462		chr21	TogoVar
KRTAP10-7_chr21_44595597_44607174	44599171	T T	TCTCTCTC others(25): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0000 a0001c0001t0009g0000	1	446	0.0022	32	c.-14 others(43): Show c.-1451_-1450insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCC	KRTAP10-7	ENSG00000272804.3	transcript	ENST00000609664.2	protein_coding		1425		chr21	TogoVar
KRTAP10-7_chr21_44595597_44607174	44604691	T T	TTTTCACC others(25): Show TTTTCACCACTGAGTATGGCATCAGCTGTGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	446	0.0022	32	c.29 others(43): Show c.2957_*2958insTTTCACCACTGAGTATGGCATCAGCTGTGGGC	KRTAP10-7	ENSG00000272804.3	transcript	ENST00000609664.2	protein_coding		2518		chr21	TogoVar
KRTAP16-1_chr17_41302700_41314309	41310386	A A	AAAGAAAG others(25): Show AAAGAAAGAAAGAAAGGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 NA18941.hp1 NA18941.hp2 others(1): Show HG02258.hp2 NA18941.hp1 NA18941.hp2 NA18976.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0000 a0003c0004t0001g0000 a0001c0001t0001g0000 a0003c0004t0001g0000	4	421	0.0095	32	c.-11 others(43): Show c.-1134_-1133insCTTTCTTTCTTTCTTTCCTTTCTTTCTTTCTT	KRTAP16-1	ENSG00000212657.2	transcript	ENST00000391352.2	protein_coding		1078		chr17	TogoVar
KRTAP16-1_chr17_41302700_41314309	41310389	G G	GAAAGAAA others(25): Show GAAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	421	0.0024	32	c.-11 others(43): Show c.-1137_-1136insTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTT	KRTAP16-1	ENSG00000212657.2	transcript	ENST00000391352.2	protein_coding		1081		chr17	TogoVar
KRTAP16-1_chr17_41302700_41314309	41310389	G G	GAAAGAAA others(25): Show GAAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01169.hp1 NA18993.hp2 HG01168.hp1 HG01169.hp1 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	421	0.0071	32	c.-11 others(43): Show c.-1137_-1136insTTTCTTTCTTTCCTTTCTTTCTTTCTTTCTTT	KRTAP16-1	ENSG00000212657.2	transcript	ENST00000391352.2	protein_coding		1081		chr17	TogoVar
KRTAP16-1_chr17_41302700_41314309	41310389	G G	GAAAGAAA others(25): Show GAAAGAAAGAAAGAAAGGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG02965.hp2 NA18906.hp1 HG01515.hp2 HG02965.hp2 NA18906.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0000 a0003c0004t0001g0000 a0001c0001t0001g0000 a0003c0004t0001g0000	3	421	0.0071	32	c.-11 others(43): Show c.-1137_-1136insTTTCTTTCTTTCTTTCCTTTCTTTCTTTCTTT	KRTAP16-1	ENSG00000212657.2	transcript	ENST00000391352.2	protein_coding		1081		chr17	TogoVar
KRTAP16-1_chr17_41302700_41314309	41310389	G G	GAAAGAAA others(25): Show GAAAGAAAGGAAAGAAAGAAAGAAAGAAGGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 HG02074.hp1 HG02257.hp1 others(3): Show HG02071.hp2 HG02074.hp1 HG02257.hp1 NA19089.hp2 NA20300.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	6	421	0.0143	32	c.-11 others(43): Show c.-1137_-1136insTTTCCTTCTTTCTTTCTTTCTTTCCTTTCTTT	KRTAP16-1	ENSG00000212657.2	transcript	ENST00000391352.2	protein_coding		1081		chr17	TogoVar
KRTAP16-1_chr17_41302700_41314309	41310389	G G	GAAAGAAA others(25): Show GAAAGAAAGGAAAGAAAGAAAGAAGGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0000 a0005c0006t0001g0000	1	421	0.0024	32	c.-11 others(43): Show c.-1137_-1136insTTTCTTTCCTTCTTTCTTTCTTTCCTTTCTTT	KRTAP16-1	ENSG00000212657.2	transcript	ENST00000391352.2	protein_coding		1081		chr17	TogoVar
KRTAP16-1_chr17_41302700_41314309	41310389	G G	GAAAGGAA others(25): Show GAAAGGAAAGAAAGAAAGAAAGAAGGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp2 NA18997.hp1 NA19064.hp1 others(1): Show HG02293.hp2 NA18997.hp1 NA19064.hp1 NA19085.hp1	a0001 a0008 a0017 a0001 a0008 a0017	a0001c0001 a0008c0008 a0017c0015 a0001c0001 a0008c0008 a0017c0015	a0001c0001t0001 a0008c0008t0001 a0017c0015t0001 a0001c0001t0001 a0008c0008t0001 a0017c0015t0001	a0001c0001t0001g0000 a0008c0008t0001g0000 a0017c0015t0001g0000 a0001c0001t0001g0000 a0008c0008t0001g0000 a0017c0015t0001g0000	4	421	0.0095	32	c.-11 others(43): Show c.-1137_-1136insTTTCTTTCCTTCTTTCTTTCTTTCTTTCCTTT	KRTAP16-1	ENSG00000212657.2	transcript	ENST00000391352.2	protein_coding		1081		chr17	TogoVar
KRTAP16-1_chr17_41302700_41314309	41310409	G G	GGAAAGAA others(25): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	421	0.0024	32	c.-11 others(43): Show c.-1157_-1156insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	KRTAP16-1	ENSG00000212657.2	transcript	ENST00000391352.2	protein_coding		1101		chr17	TogoVar
KRTAP17-1_chr17_41309912_41320710	41310386	A A	AAAGAAAG others(25): Show AAAGAAAGAAAGAAAGGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp2 NA18976.hp1 NA18966.hp1 NA18966.hp2 NA18976.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0000 a0001c0003t0001g0000 a0001c0001t0001g0000 a0001c0003t0001g0000	3	413	0.0073	32	c.49 others(43): Show c.4946_*4947insCTTTCTTTCTTTCTTTCCTTTCTTTCTTTCTT	KRTAP17-1	ENSG00000186860.5	transcript	ENST00000334202.5	protein_coding		4525		chr17	TogoVar
KRTAP17-1_chr17_41309912_41320710	41310389	G G	GAAAGAAA others(25): Show GAAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	413	0.0024	32	c.49 others(43): Show c.4943_*4944insTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTT	KRTAP17-1	ENSG00000186860.5	transcript	ENST00000334202.5	protein_coding		4522		chr17	TogoVar
KRTAP17-1_chr17_41309912_41320710	41310389	G G	GAAAGAAA others(25): Show GAAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp1 NA18993.hp1 HG01169.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	413	0.0048	32	c.49 others(43): Show c.4943_*4944insTTTCTTTCTTTCCTTTCTTTCTTTCTTTCTTT	KRTAP17-1	ENSG00000186860.5	transcript	ENST00000334202.5	protein_coding		4522		chr17	TogoVar
KRTAP17-1_chr17_41309912_41320710	41310389	G G	GAAAGAAA others(25): Show GAAAGAAAGAAAGAAAGGAAAGAAAGAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG02965.hp1 NA18906.hp1 HG01515.hp2 HG02965.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0000 a0001c0003t0001g0000 a0001c0001t0001g0000 a0001c0003t0001g0000	3	413	0.0073	32	c.49 others(43): Show c.4943_*4944insTTTCTTTCTTTCTTTCCTTTCTTTCTTTCTTT	KRTAP17-1	ENSG00000186860.5	transcript	ENST00000334202.5	protein_coding		4522		chr17	TogoVar
KRTAP17-1_chr17_41309912_41320710	41310389	G G	GAAAGAAA others(25): Show GAAAGAAAGGAAAGAAAGAAAGAAAGAAGGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02074.hp2 HG02257.hp1 others(2): Show HG02071.hp2 HG02074.hp2 HG02257.hp1 NA20300.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	5	413	0.0121	32	c.49 others(43): Show c.4943_*4944insTTTCCTTCTTTCTTTCTTTCTTTCCTTTCTTT	KRTAP17-1	ENSG00000186860.5	transcript	ENST00000334202.5	protein_coding		4522		chr17	TogoVar
KRTAP17-1_chr17_41309912_41320710	41310389	G G	GAAAGGAA others(25): Show GAAAGGAAAGAAAGAAAGAAAGAAGGAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 NA19064.hp2 NA19090.hp2 HG02293.hp2 NA19064.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	413	0.0073	32	c.49 others(43): Show c.4943_*4944insTTTCTTTCCTTCTTTCTTTCTTTCTTTCCTTT	KRTAP17-1	ENSG00000186860.5	transcript	ENST00000334202.5	protein_coding		4522		chr17	TogoVar
KRTAP17-1_chr17_41309912_41320710	41310409	G G	GGAAAGAA others(25): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	413	0.0024	32	c.49 others(43): Show c.4923_*4924insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	KRTAP17-1	ENSG00000186860.5	transcript	ENST00000334202.5	protein_coding		4502		chr17	TogoVar
KRTAP19-7_chr21_30555875_30566314	30562378	T T	TATATATA others(25): Show TATATATATATATACATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG03834.hp1 HG03688.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	422	0.0047	32	c.-10 others(43): Show c.-1090_-1089insGTATATATATATATATATGTATATATATATAT	KRTAP19-7	ENSG00000244362.3	transcript	ENST00000334849.2	protein_coding		1065		chr21	TogoVar
KRTAP19-7_chr21_30555875_30566314	30562380	T T	TATATATA others(25): Show TATATATATATACATATATATATATATATACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	422	0.0024	32	c.-10 others(43): Show c.-1092_-1091insGTGTATATATATATATATATGTATATATATAT	KRTAP19-7	ENSG00000244362.3	transcript	ENST00000334849.2	protein_coding		1067		chr21	TogoVar
KRTAP19-7_chr21_30555875_30566314	30562384	T T	TATATATA others(25): Show TATATATATATATATATATATATATACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0000 a0001c0004t0001g0000	1	422	0.0024	32	c.-10 others(43): Show c.-1096_-1095insGTGTGTGTATATATATATATATATATATATAT	KRTAP19-7	ENSG00000244362.3	transcript	ENST00000334849.2	protein_coding		1071		chr21	TogoVar
KRTAP19-7_chr21_30555875_30566314	30562392	T T	TATATATA others(25): Show TATATATATACACACATATATATATATATACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	422	0.0024	32	c.-11 others(43): Show c.-1104_-1103insGTGTATATATATATATATGTGTGTATATATAT	KRTAP19-7	ENSG00000244362.3	transcript	ENST00000334849.2	protein_coding		1079		chr21	TogoVar
KRTAP2-1_chr17_41041541_41052316	41051131	A A	AATATATA others(25): Show AATATATATAATATATTATATATATAGTAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0000 a0004c0004t0003g0000	1	407	0.0025	32	c.-38 others(43): Show c.-3865_-3864insATTTTACTATATATATAATATATTATATATAT	KRTAP2-1	ENSG00000212725.4	transcript	ENST00000391419.3	protein_coding		3816		chr17	TogoVar
KRTAP2-2_chr17_41049498_41060230	41050842	T T	TAAAATAT others(25): Show TAAAATATATATTAATATATTACATATATAGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0000 a0000	a0000c0011 a0000c0011	a0000c0011t0002 a0000c0011t0002	a0000c0011t0002g0000 a0000c0011t0002g0000	1	411	0.0024	32	c.39 others(43): Show c.3997_*3998insTACTATATATGTAATATATTAATATATATTTT	KRTAP2-2	ENSG00000214518.4	transcript	ENST00000398477.1	protein_coding		3655		chr17	TogoVar
KRTAP2-2_chr17_41049498_41060230	41051131	A A	AATATATA others(25): Show AATATATATAATATATTATATATATAGTAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0004	a0004c0005t0004g0000 a0004c0005t0004g0000	1	411	0.0024	32	c.37 others(43): Show c.3708_*3709insATTTTACTATATATATAATATATTATATATAT	KRTAP2-2	ENSG00000214518.4	transcript	ENST00000398477.1	protein_coding		3366		chr17	TogoVar
KRTAP3-1_chr17_41003521_41014128	41007665	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp2 NA20300.hp1 HG03492.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	439	0.0046	32	c.11 others(43): Show c.1112_*1113insTATATATATATATATATATATATATATATATA	KRTAP3-1	ENSG00000212901.4	transcript	ENST00000391588.3	protein_coding		855		chr17	TogoVar
KRTAP3-2_chr17_40994193_41004906	41001915	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG01099.hp2 others(20): Show HG00099.hp2 HG00280.hp1 HG01099.hp2 HG01192.hp1 HG02109.hp1 HG02148.hp2 HG02155.hp2 HG02602.hp2 HG02818.hp1 HG03927.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp1 NA18951.hp1 NA18959.hp1 NA18969.hp1 NA18991.hp1 NA19006.hp1 NA19055.hp1 NA19070.hp2 NA19074.hp1 NA19075.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	23	473	0.0486	32	c.-20 others(43): Show c.-2063_-2062insTACACACACACACACACACATACACACACACA	KRTAP3-2	ENSG00000212900.3	transcript	ENST00000391587.3	protein_coding		2010		chr17	TogoVar
KRTAP3-3_chr17_40988430_40999164	40989333	A A	ATCCATAG others(25): Show ATCCATAGGTTATTAGAACTGTGTTGTTTGATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	471	0.0021	32	c.44 others(43): Show c.4467_*4468insAATCAAACAACACAGTTCTAATAACCTATGGA	KRTAP3-3	ENSG00000212899.3	transcript	ENST00000391586.3	protein_coding		4096		chr17	TogoVar
KRTAP4-7_chr17_41079150_41090144	41090041	G G	GCAAGAAA others(25): Show GCAAGAAAGAGAAAGAAAGAAAGCAAGAAAGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG03471.hp2 NA21309.hp1 HG02109.hp1 HG03471.hp2 NA21309.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0000 a0004c0004t0002g0000	3	442	0.0068	32	c.53 others(43): Show c.5367_*5368insCAAGAAAGAGAAAGAAAGAAAGCAAGAAAGCA	KRTAP4-7	ENSG00000240871.7	transcript	ENST00000391417.6	protein_coding		4898		chr17	TogoVar
KRTAP4-7_chr17_41079150_41090144	41090064	C C	CAAGAAAG others(25): Show CAAGAAAGCAAGAAAGCAAGAAAGAAAGAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0000 a0004c0004t0002g0000	1	442	0.0023	32	c.53 others(43): Show c.5390_*5391insAAGAAAGCAAGAAAGCAAGAAAGAAAGAAAGA	KRTAP4-7	ENSG00000240871.7	transcript	ENST00000391417.6	protein_coding		4921		chr17	TogoVar
KRTAP5-10_chr11_71560563_71571735	71569137	T T	TGGGGGGG others(25): Show TGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0000 a0002c0002t0005g0000	1	468	0.0021	32	c.29 others(43): Show c.2941_*2942insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	KRTAP5-10	ENSG00000204572.10	transcript	ENST00000398531.3	protein_coding		2403		chr11	TogoVar
KRTAP5-1_chr11_1579342_1590283	1583879	G G	GGTGTGTG others(25): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00642.hp2 HG01175.hp2 others(20): Show HG00408.hp1 HG00642.hp2 HG01175.hp2 HG01433.hp2 HG02027.hp2 HG02572.hp1 HG02896.hp1 HG02922.hp1 HG03017.hp1 HG03041.hp1 HG03195.hp2 HG03492.hp1 HG03704.hp1 NA18940.hp1 NA18945.hp2 NA18950.hp1 NA18973.hp1 NA18988.hp1 NA19007.hp2 NA19063.hp2 NA19087.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0002 a0004 a0007 a0002 a0004 a0007	a0002c0002 a0004c0004 a0007c0010 a0002c0002 a0004c0004 a0007c0010	a0002c0002t0001 a0004c0004t0001 a0007c0010t0001 a0002c0002t0001 a0004c0004t0001 a0007c0010t0001	a0002c0002t0001g0000 a0004c0004t0001g0000 a0007c0010t0001g0000 a0002c0002t0001g0000 a0004c0004t0001g0000 a0007c0010t0001g0000	23	429	0.0536	32	c.53 others(41): Show c.533_*534insACACACACACACACACACACACACACACACAC	KRTAP5-1	ENSG00000205869.2	transcript	ENST00000382171.2	protein_coding		462		chr11	TogoVar
KRTAP5-3_chr11_1602565_1613463	1605805	T T	TTATGTAT others(25): Show TTATGTATGTATGTATGTATGTATGTATGTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	1	427	0.0023	32	c.18 others(43): Show c.1863_*1864insCATACATACATACATACATACATACATACATA	KRTAP5-3	ENSG00000196224.7	transcript	ENST00000399685.1	protein_coding		1759		chr11	TogoVar
KRTAP5-5_chr11_1624775_1635930	1629420	G G	GCAAGACA others(25): Show GCAAGACACGATGCTCCCGCAGAGGAATCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01255.hp2 HG01261.hp1 others(2): Show HG01074.hp2 HG01255.hp2 HG01261.hp1 HG01358.hp1 HG02273.hp2	a0009 a0024 a0009 a0024	a0009c0009 a0024c0019 a0009c0009 a0024c0019	a0009c0009t0004 a0024c0019t0004 a0009c0009t0004 a0024c0019t0004	a0009c0009t0004g0000 a0024c0019t0004g0000 a0009c0009t0004g0000 a0024c0019t0004g0000	5	445	0.0112	32	c.-42 others(41): Show c.-421_-420insCAAGACACGATGCTCCCGCAGAGGAATCTTCC	KRTAP5-5	ENSG00000185940.11	transcript	ENST00000399676.4	protein_coding		354		chr11	TogoVar
KRTAP5-7_chr11_71522267_71533669	71522658	T T	TGCCGTAT others(25): Show TGCCGTATTCTTGGGCGAGTACGCTGGTGACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	460	0.0022	32	c.-46 others(43): Show c.-4643_-4642insGCCGTATTCTTGGGCGAGTACGCTGGTGACAC	KRTAP5-7	ENSG00000244411.4	transcript	ENST00000398536.6	protein_coding		4608		chr11	TogoVar
KRTAP7-1_chr21_30824039_30834759	30825678	G G	GAAAAGTT others(25): Show GAAAAGTTCAAGACGAGTCAGACAGGAATATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	426	0.0024	32	c.37 others(43): Show c.3756_*3757insAGATATTCCTGTCTGACTCGTCTTGAACTTTT	KRTAP7-1	ENSG00000274749.1	transcript	ENST00000621162.1	protein_coding		3360		chr21	TogoVar
KRTAP9-6_chr17_41260378_41270860	41263222	T T	TGAAGGAA others(25): Show TGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG01243.hp2 HG01516.hp2 others(11): Show HG00673.hp1 HG01243.hp2 HG01516.hp2 HG01517.hp2 HG02559.hp2 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02723.hp2 HG02818.hp1 HG04115.hp1 NA18967.hp1 NA18984.hp1 NA20805.hp2	a0000 a0000	a0000c0001 a0000c0001	a0000c0001t0000 a0000c0001t0000	a0000c0001t0000g0000 a0000c0001t0000g0000	14	248	0.0565	32	c.-21 others(43): Show c.-2156_-2155insGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	KRTAP9-6	ENSG00000212659.2	transcript	ENST00000391355.2	protein_coding		2155		chr17	TogoVar
KSR1_chr17_27451448_27631435	27563981	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02818.hp2 HG02486.hp2 HG02818.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0003 a0001c0010t0003	a0001c0010t0003g0001 a0001c0010t0003g0001	2	246	0.0081	32	c.372 others(51): Show c.372+13298_372+13299insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	KSR1	ENSG00000141068.17	transcript	ENST00000644974.2	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr17	TogoVar
KSR2_chr12_117448012_117973990	117611445	G G	GACACACA others(25): Show GACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0139 a0001c0003t0139	a0001c0003t0139g0136 a0001c0003t0139g0136	1	196	0.0051	32	c.117 others(53): Show c.1172-29087_1172-29086insGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	5/19			chr12	TogoVar
KSR2_chr12_117448012_117973990	117656940	G G	GGAGATAT others(25): Show GGAGATATATATATATATATATATATAATAGGA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02055.hp1 HG02572.hp1 others(2): Show HG01243.hp2 HG02055.hp1 HG02572.hp1 HG02572.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 others(1): Show a0001c0001 a0001c0003 a0001c0006 a0001c0014	a0001c0001t0126 a0001c0001t0134 a0001c0003t0004 others(2): Show a0001c0001t0126 a0001c0001t0134 a0001c0003t0004 a0001c0006t0016 a0001c0014t0072	a0001c0001t0126g0128 a0001c0001t0134g0121 a0001c0003t0004g0146 others(2): Show a0001c0001t0126g0128 a0001c0001t0134g0121 a0001c0003t0004g0146 a0001c0006t0016g0081 a0001c0014t0072g0064	5	196	0.0255	32	c.117 others(53): Show c.1171+10533_1171+10534insTCCTATTATATATATATATATATA TATATCTC	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	5/19			chr12	TogoVar
KSR2_chr12_117448012_117973990	117794000	A A	ACACACAC others(25): Show ACACACACCAACATGCACACTCACACCAACATG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA19043.hp1 NA18906.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0111 a0001c0001t0125 a0001c0001t0111 a0001c0001t0125	a0001c0001t0111g0148 a0001c0001t0125g0174 a0001c0001t0111g0148 a0001c0001t0125g0174	2	196	0.0102	32	c.473 others(51): Show c.473-32508_473-32477dupCATGTTGGTGTGAGTGTGCATGTTGG TGTGTG	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	3/19			chr12	TogoVar
KYNU_chr2_142872664_143060833	142977372	G G	GAGATATA others(25): Show GAGATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0270 a0001c0001t0038g0270	1	332	0.0030	32	c.730 others(49): Show c.730-7711_730-7710insGATATATATATATATATATATATATATA TATA	KYNU	ENSG00000115919.15	transcript	ENST00000264170.9	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
KYNU_chr2_142872664_143060833	142977372	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02273.hp1 HG03710.hp1 others(5): Show HG02027.hp2 HG02273.hp1 HG03710.hp1 HG04204.hp1 NA18522.hp2 NA18973.hp2 NA19062.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0008 a0001c0001t0014 others(4): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0014 a0001c0001t0015 a0001c0001t0082 a0001c0001t0155 a0002c0002t0003	a0001c0001t0001g0008 a0001c0001t0008g0185 a0001c0001t0014g0239 others(5): Show a0001c0001t0001g0008 a0001c0001t0008g0185 a0001c0001t0014g0239 a0001c0001t0015g0007 a0001c0001t0015g0055 a0001c0001t0082g0131 a0001c0001t0155g0111 a0002c0002t0003g0266	8	332	0.0241	32	c.730 others(49): Show c.730-7698_730-7697insATATATATATATATATATATATATATAT ATAT	KYNU	ENSG00000115919.15	transcript	ENST00000264170.9	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
L1CAM_chrX_153856516_153891173	153859456	A A	AAAGGAAG others(25): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0049 a0001c0001t0012g0049	1	283	0.0035	32	c.32 others(43): Show c.3206_*3207insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	L1CAM	ENSG00000198910.14	transcript	ENST00000370060.7	protein_coding		2059		chrX	TogoVar
L1TD1_chr1_62189849_62217328	62216224	A A	AAAACAAA others(25): Show AAAACAAACACCTCTTTTCTTTTTATTGCTAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0288 a0001c0004t0005g0288	1	414	0.0024	32	c.48 others(43): Show c.4852_*4853insAAACAAACACCTCTTTTCTTTTTATTGCTAGT	L1TD1	ENSG00000240563.2	transcript	ENST00000498273.2	protein_coding		3897		chr1	TogoVar
L3MBTL4_chr18_5949717_6419911	5960047	T T	TATATATA others(25): Show TATATATATATATACATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0093 a0001c0001t0006g0093	1	94	0.0106	32	c.167 others(47): Show c.1677+46_1677+47insGTGTGTGTATATATATATGTATATATATAT AT	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	18/18			chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	6099585	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG03017.hp1 HG03486.hp1 others(1): Show HG01952.hp2 HG03017.hp1 HG03486.hp1 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0002 a0001c0004t0006 a0002c0002t0001 a0001c0001t0002 a0001c0004t0006 a0002c0002t0001	a0001c0001t0002g0029 a0001c0001t0002g0062 a0001c0004t0006g0074 others(1): Show a0001c0001t0002g0029 a0001c0001t0002g0062 a0001c0004t0006g0074 a0002c0002t0001g0061	4	94	0.0426	32	c.120 others(51): Show c.1200-6058_1200-6057insATATATATATATATATATATATATAT ATATAT	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	14/18			chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	6118208	A A	AACACACA others(25): Show AACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01981.hp2 NA19009.hp2 HG00558.hp2 HG01981.hp2 NA19009.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0006 a0001c0001t0002g0044 a0002c0002t0001g0021 a0001c0001t0002g0006 a0001c0001t0002g0044 a0002c0002t0001g0021	3	94	0.0319	32	c.119 others(53): Show c.1199+19985_1199+19986insGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	14/18			chr18	TogoVar
LAMA1_chr18_6936742_7122797	7021794	A A	AATAATAT others(25): Show AATAATATATAATATAATATATTATTATATAAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0053 a0053	a0053c0126 a0053c0126	a0053c0126t0002 a0053c0126t0002	a0053c0126t0002g0095 a0053c0126t0002g0095	1	278	0.0036	32	c.270 others(51): Show c.2701+1369_2701+1370insATTATATAATAATATATTATATTATA TATTAT	LAMA1	ENSG00000101680.16	transcript	ENST00000389658.4	protein_coding	19/62			chr18	TogoVar
LAMA1_chr18_6936742_7122797	7031680	C C	CAAATAAA others(25): Show CAAATAAATAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03098.hp2 HG03453.hp2 others(2): Show HG02109.hp2 HG03098.hp2 HG03453.hp2 HG03486.hp1 NA18906.hp2	a0041 a0079 a0101 others(2): Show a0041 a0079 a0101 a0110 a0111	a0041c0208 a0079c0153 a0101c0051 others(2): Show a0041c0208 a0079c0153 a0101c0051 a0110c0043 a0111c0037	a0041c0208t0003 a0079c0153t0001 a0101c0051t0001 others(2): Show a0041c0208t0003 a0079c0153t0001 a0101c0051t0001 a0110c0043t0002 a0111c0037t0006	a0041c0208t0003g0126 a0079c0153t0001g0241 a0101c0051t0001g0276 others(2): Show a0041c0208t0003g0126 a0079c0153t0001g0241 a0101c0051t0001g0276 a0110c0043t0002g0114 a0111c0037t0006g0242	5	278	0.0180	32	c.227 others(49): Show c.2274+385_2274+386insATTTATTTATTTATTTATTTATTTATTT ATTT	LAMA1	ENSG00000101680.16	transcript	ENST00000389658.4	protein_coding	16/62			chr18	TogoVar

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