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
SDK1_chr7_3296252_4274000	3299677	A A	AGCTGCTG others(14): Show AGCTGCTGCTGCTGCTGCTGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG02602.hp1 HG03471.hp2 others(1): Show HG01516.hp2 HG02602.hp1 HG03471.hp2 NA19030.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0019	a0001c0005 a0003c0001 a0005c0080 others(1): Show a0001c0005 a0003c0001 a0005c0080 a0019c0051	a0001c0005t0001 a0003c0001t0059 a0005c0080t0014 others(1): Show a0001c0005t0001 a0003c0001t0059 a0005c0080t0014 a0019c0051t0062	a0001c0005t0001g0023 a0003c0001t0059g0024 a0005c0080t0014g0078 others(1): Show a0001c0005t0001g0023 a0003c0001t0059g0024 a0005c0080t0014g0078 a0019c0051t0062g0019	4	116	0.0345	21	c.-19 others(32): Show c.-1910_-1909insGCTGCTGCTGCTGCTGCTGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding		1574		chr7	TogoVar
SDK1_chr7_3296252_4274000	3319878	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02809.hp1 HG02896.hp1 others(4): Show HG02622.hp2 HG02809.hp1 HG02896.hp1 HG03195.hp1 HG03491.hp2 HG03710.hp1 NA20129.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0008 a0001c0014 a0001c0037 others(4): Show a0001c0008 a0001c0014 a0001c0037 a0001c0060 a0002c0030 a0004c0058 a0006c0006	a0001c0008t0007 a0001c0014t0018 a0001c0037t0002 others(4): Show a0001c0008t0007 a0001c0014t0018 a0001c0037t0002 a0001c0060t0041 a0002c0030t0034 a0004c0058t0012 a0006c0006t0001	a0001c0008t0007g0067 a0001c0014t0018g0060 a0001c0037t0002g0077 others(4): Show a0001c0008t0007g0067 a0001c0014t0018g0060 a0001c0037t0002g0077 a0001c0060t0041g0080 a0002c0030t0034g0083 a0004c0058t0012g0063 a0006c0006t0001g0036	7	116	0.0603	21	c.298 others(40): Show c.298+18011_298+18012insTTTTTTTTTTTTTTTTTTTTT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3582683	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0023 a0023	a0023c0035 a0023c0035	a0023c0035t0005 a0023c0035t0005	a0023c0035t0005g0058 a0023c0035t0005g0058	1	116	0.0086	21	c.299 others(40): Show c.299-36391_299-36371dupAAAAAAAAAAAAAAAAAAAAA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3687056	A A	ACACACAC others(14): Show ACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0020 a0020	a0020c0089 a0020c0089	a0020c0089t0047 a0020c0089t0047	a0020c0089t0047g0056 a0020c0089t0047g0056	1	116	0.0086	21	c.713 others(40): Show c.713+44951_713+44952insCACACACACACACACACACAC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3938645	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0020 a0020	a0020c0089 a0020c0089	a0020c0089t0047 a0020c0089t0047	a0020c0089t0047g0056 a0020c0089t0047g0056	1	116	0.0086	21	c.848 others(40): Show c.848-12263_848-12262insAAAAAAAAAAAAAAAAAAAAA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	5/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK2_chr17_73329384_73649445	73355174	A A	ATATATAT others(14): Show ATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0097 a0001c0002t0014g0097	1	204	0.0049	21	c.559 others(40): Show c.5594-2538_5594-2537insAAAAAAATATATATATATATA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73355174	A A	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0015 a0015	a0015c0106 a0015c0106	a0015c0106t0012 a0015c0106t0012	a0015c0106t0012g0099 a0015c0106t0012g0099	1	204	0.0049	21	c.559 others(40): Show c.5594-2538_5594-2537insAAAAAAAAATATATATATATA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73355174	A A	ATATATAT others(14): Show ATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0024 a0001c0005t0024	a0001c0005t0024g0191 a0001c0005t0024g0191	1	204	0.0049	21	c.559 others(40): Show c.5594-2538_5594-2537insAAAAAAAAAAATATATATATA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73355175	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00621.hp2 HG02976.hp2 HG00544.hp1 HG00621.hp2 HG02976.hp2	a0001 a0011 a0001 a0011	a0001c0043 a0001c0071 a0011c0062 a0001c0043 a0001c0071 a0011c0062	a0001c0043t0033 a0001c0071t0071 a0011c0062t0001 a0001c0043t0033 a0001c0071t0071 a0011c0062t0001	a0001c0043t0033g0003 a0001c0071t0071g0092 a0011c0062t0001g0138 a0001c0043t0033g0003 a0001c0071t0071g0092 a0011c0062t0001g0138	3	204	0.0147	21	c.559 others(40): Show c.5594-2539_5594-2538insTATATATATATATATATATAT	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73426208	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0097 a0001c0002t0014g0097	1	204	0.0049	21	c.158 others(40): Show c.1584-2137_1584-2117dupAAAAAAAAAAAAAAAAAAAAA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	12/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73509902	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00738.hp2 others(2): Show HG00280.hp2 HG00323.hp2 HG00738.hp2 HG01106.hp2 HG02965.hp2	a0001 a0004 a0018 others(1): Show a0001 a0004 a0018 a0025	a0001c0026 a0001c0111 a0004c0027 others(2): Show a0001c0026 a0001c0111 a0004c0027 a0018c0086 a0025c0057	a0001c0026t0022 a0001c0111t0001 a0004c0027t0024 others(2): Show a0001c0026t0022 a0001c0111t0001 a0004c0027t0024 a0018c0086t0012 a0025c0057t0003	a0001c0026t0022g0115 a0001c0111t0001g0203 a0004c0027t0024g0033 others(2): Show a0001c0026t0022g0115 a0001c0111t0001g0203 a0004c0027t0024g0033 a0018c0086t0012g0204 a0025c0057t0003g0171	5	204	0.0245	21	c.65- others(36): Show c.65-2306_65-2305insTTTTTTTTTTTTTTTTTTTTT	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	1/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73545127	A A	ACACACAC others(14): Show ACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02155.hp2 HG02071.hp1 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0025 a0001c0002t0004 a0001c0001t0025 a0001c0002t0004	a0001c0001t0025g0085 a0001c0002t0004g0038 a0001c0001t0025g0085 a0001c0002t0004g0038	2	204	0.0098	21	c.65- others(38): Show c.65-37531_65-37530insGTGTGTGTGTGTGTGTGTGTG	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	1/44			chr17	TogoVar
SEC14L2_chr22_30392018_30430303	30404030	G G	GAAAAAAA others(14): Show GAAAAAAAAAAAAAAAAAAGAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0188 a0001c0001t0031g0188	1	420	0.0024	21	c.131 others(38): Show c.131-2299_131-2298insAAAAAGAAAAAAAAAAAAAAA	SEC14L2	ENSG00000100003.18	transcript	ENST00000615189.5	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEC14L3_chr22_30454229_30477017	30455145	T T	TATATATC others(14): Show TATATATCATATTTAATATTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02717.hp1 HG01243.hp2 HG02717.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0007 a0007c0009t0007	a0007c0009t0007g0128 a0007c0009t0007g0146 a0007c0009t0007g0128 a0007c0009t0007g0146	2	454	0.0044	21	c.48 others(32): Show c.4875_*4876insTAAATATTAAATATGATATAT	SEC14L3	ENSG00000100012.12	transcript	ENST00000215812.9	protein_coding		4083		chr22	TogoVar
SEC14L3_chr22_30454229_30477017	30455145	T T	TATATATT others(14): Show TATATATTATATTTAATATTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(82): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01123.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01928.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02055.hp1 HG02071.hp2 HG02148.hp1 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG03017.hp2 HG03139.hp2 HG03209.hp2 HG03490.hp1 HG03704.hp2 HG03831.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp1 NA18948.hp2 NA18951.hp1 NA18964.hp1 NA18966.hp1 NA18970.hp2 NA18990.hp2 NA18994.hp1 NA18999.hp2 NA19000.hp2 NA19004.hp1 NA19007.hp2 NA19062.hp1 NA19063.hp1 NA19067.hp2 NA19077.hp1 NA19081.hp2 NA19087.hp1 NA19088.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0011 a0001c0001t0001 a0002c0002t0001 a0002c0002t0011	a0001c0001t0001g0001 a0001c0001t0001g0039 a0001c0001t0001g0048 others(22): Show a0001c0001t0001g0001 a0001c0001t0001g0039 a0001c0001t0001g0048 a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0014 a0002c0002t0001g0018 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0062 a0002c0002t0001g0086 a0002c0002t0001g0114 a0002c0002t0001g0130 a0002c0002t0001g0133 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0159 a0002c0002t0001g0161 a0002c0002t0001g0163 a0002c0002t0011g0150	85	454	0.1872	21	c.48 others(32): Show c.4855_*4875dupTAAATATTAAATATAATATAT	SEC14L3	ENSG00000100012.12	transcript	ENST00000215812.9	protein_coding		4083		chr22	TogoVar
SEC16A_chr9_136435105_136488040	136479086	T T	TTCAACAA others(14): Show TTCAACAACAGGCAGAATTGCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0074 a0001c0002t0002g0074	1	306	0.0033	21	c.-19 others(38): Show c.-191-277_-191-257dupGGCAATTCTGCCTGTTGTTGA	SEC16A	ENSG00000148396.19	transcript	ENST00000684901.1	protein_coding	1/31			chr9	TogoVar
SEC22A_chr3_123196943_123279136	123260131	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA18946.hp1 HG02723.hp2 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0331 a0001c0001t0001g0163 a0001c0001t0001g0331	2	340	0.0059	21	c.723 others(36): Show c.723+560_723+580dupAAAAAAAAAAAAAAAAAAAAA	SEC22A	ENSG00000121542.12	transcript	ENST00000492595.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
SEC22B_chr1_120145898_120181520	120163580	T T	TTTGTTTT others(14): Show TTTGTTTTTGTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18966.hp2 NA18961.hp1 NA18966.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0004 a0001c0002t0003 a0001c0002t0004	a0001c0002t0003g0115 a0001c0002t0004g0090 a0001c0002t0003g0115 a0001c0002t0004g0090	2	380	0.0053	21	c.186 others(36): Show c.186-211_186-210insGAAAAAAAAAAACAAAAACAA	SEC22B	ENSG00000265808.4	transcript	ENST00000578049.4	protein_coding	2/4			chr1	TogoVar
SEC24A_chr5_134643785_134732909	134705091	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA19003.hp2 NA18981.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0049 a0001c0001t0006g0050 a0001c0001t0006g0049 a0001c0001t0006g0050	2	318	0.0063	21	c.244 others(38): Show c.2441-236_2441-235insATATATATATATATATATATA	SEC24A	ENSG00000113615.13	transcript	ENST00000398844.7	protein_coding	16/22			chr5	TogoVar
SEC31A_chr4_82813509_82896153	82846366	C C	CATAATAA others(14): Show CATAATAATAATAATAATAATA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0290 a0001c0002t0001g0290	1	328	0.0031	21	c.250 others(40): Show c.2503-1878_2503-1858dupTATTATTATTATTATTATTAT	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	20/26			chr4	TogoVar
SEC31A_chr4_82813509_82896153	82846366	C C	CATCATAA others(14): Show CATCATAATAATAATAATAATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0313 a0002c0004t0001g0313	1	328	0.0031	21	c.250 others(40): Show c.2503-1858_2503-1857insTATTATTATTATTATTATGAT	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	20/26			chr4	TogoVar
SEC61A2_chr10_12124677_12170407	12170059	G G	GTCTCCAC others(14): Show GTCTCCACACAGTATCTCCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	360	0.0028	21	c.56 others(32): Show c.5605_*5606insTCTCCACACAGTATCTCCTCA	SEC61A2	ENSG00000065665.21	transcript	ENST00000298428.14	protein_coding		4653		chr10	TogoVar
SEC61G_chr7_54747253_54764211	54760999	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG02818.hp1 HG03834.hp1 others(2): Show HG00639.hp1 HG02818.hp1 HG03834.hp1 HG04204.hp1 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0039 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0039	5	406	0.0123	21	c.-18 others(32): Show c.-1849_-1848insTTTTTTTTTTTTTTTTTTTTT	SEC61G	ENSG00000132432.14	transcript	ENST00000352861.9	protein_coding		1789		chr7	TogoVar
SECISBP2L_chr15_48983638_49051446	49010124	G G	GACACACA others(14): Show GACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0254 a0002c0002t0004g0254	1	378	0.0027	21	c.186 others(38): Show c.1865-747_1865-746insGGTGTGTGTGTGTGTGTGTGT	SECISBP2L	ENSG00000138593.9	transcript	ENST00000559471.6	protein_coding	13/17			chr15	TogoVar
SECISBP2L_chr15_48983638_49051446	49010153	A A	ACACACAC others(14): Show ACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0085 a0001c0001t0018g0085	1	378	0.0027	21	c.186 others(38): Show c.1865-776_1865-775insGTGTGTGTGTGTGTGTGTGTG	SECISBP2L	ENSG00000138593.9	transcript	ENST00000559471.6	protein_coding	13/17			chr15	TogoVar
SEH1L_chr18_12943011_12992531	12981850	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0321 a0001c0001t0004g0321	1	388	0.0026	21	c.762 others(36): Show c.762-661_762-641dupTTTTTTTTTTTTTTTTTTTTT	SEH1L	ENSG00000085415.16	transcript	ENST00000399892.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
SEL1L2_chr20_13844247_13995614	13848313	G G	GAGAAGAA others(14): Show GAGAAGAAGAAGAAGAAGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00735.hp2 HG01975.hp2 others(13): Show HG00733.hp2 HG00735.hp2 HG01975.hp2 HG02040.hp1 HG02145.hp1 HG02145.hp2 HG03017.hp1 HG03492.hp2 NA18968.hp1 NA18971.hp2 NA18984.hp1 NA19011.hp2 NA19012.hp2 NA19080.hp2 NA19087.hp2 homoSapiens_chm13v2.hp1	a0001 a0007 a0009 others(1): Show a0001 a0007 a0009 a0010	a0001c0001 a0007c0010 a0009c0014 others(1): Show a0001c0001 a0007c0010 a0009c0014 a0010c0017	a0001c0001t0001 a0007c0010t0001 a0009c0014t0002 others(1): Show a0001c0001t0001 a0007c0010t0001 a0009c0014t0002 a0010c0017t0002	a0001c0001t0001g0092 a0001c0001t0001g0105 a0001c0001t0001g0111 others(13): Show a0001c0001t0001g0092 a0001c0001t0001g0105 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0172 a0001c0001t0001g0234 a0001c0001t0001g0247 a0007c0010t0001g0215 a0009c0014t0002g0063 a0010c0017t0002g0040	16	324	0.0494	21	c.11 others(32): Show c.1171_*1172insTCTTCTTCTTCTTCTTCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		933		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848319	G G	GAGAAGAA others(14): Show GAGAAGAAGAAGAAGAAGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG06807.hp2 NA18975.hp1 HG03098.hp1 HG06807.hp2 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0013t0002 a0001c0001t0001 a0001c0013t0002	a0001c0001t0001g0211 a0001c0001t0001g0290 a0001c0013t0002g0057 a0001c0001t0001g0211 a0001c0001t0001g0290 a0001c0013t0002g0057	3	324	0.0093	21	c.11 others(32): Show c.1165_*1166insTCTTCTTCTTCTTCTTCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		927		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848319	G G	GAGAAGAA others(14): Show GAGAAGAAGAAGAAGAAGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG02895.hp2 HG02897.hp1 others(1): Show HG00741.hp1 HG02895.hp2 HG02897.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 others(1): Show a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208	4	324	0.0124	21	c.11 others(32): Show c.1165_*1166insTCCTCTTCTTCTTCTTCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		927		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848319	G G	GAGAAGGA others(14): Show GAGAAGGAGAAGAAGAAGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	324	0.0031	21	c.11 others(32): Show c.1165_*1166insTCTTCTTCTTCTTCTCCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		927		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848357	G G	GAAGAAGA others(14): Show GAAGAAGAAGAAGAAGAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0268 a0002c0002t0003g0268	1	324	0.0031	21	c.11 others(32): Show c.1127_*1128insTTTCTTCTTCTTCTTCTTCTT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		889		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848546	A A	AAGAAGAA others(14): Show AAGAAGAAGAAGAAGAAGAAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	324	0.0031	21	c.93 others(30): Show c.938_*939insGCTTCTTCTTCTTCTTCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		700		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848555	G G	GAGAAGAA others(14): Show GAGAAGAAGAAGAAGAAGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	324	0.0031	21	c.92 others(30): Show c.929_*930insTCTTCTTCTTCTTCTTCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		691		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13934418	C C	CATATATA others(14): Show CATATATATATATATTCCATAT	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	324	0.0031	21	c.115 others(38): Show c.115-2648_115-2647insATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13983023	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp2 HG02280.hp1 others(2): Show HG01891.hp1 HG02109.hp2 HG02280.hp1 HG02486.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 others(2): Show a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0323	5	324	0.0154	21	c.58+ others(36): Show c.58+7433_58+7453dupTTTTTTTTTTTTTTTTTTTTT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	1/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13995274	A A	AGCCCCCT others(14): Show AGCCCCCTCGCTCCCTGGCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	324	0.0031	21	c.-47 others(32): Show c.-4761_-4741dupGGAGCCAGGGAGCGAGGGGGC	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		4661		chr20	TogoVar
SELENBP1_chr1_151359304_151377705	151367355	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03139.hp1 NA20300.hp2 HG01891.hp2 HG03139.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0061 a0001c0001t0003g0222 a0001c0001t0001g0061 a0001c0001t0003g0222	3	438	0.0069	21	c.482 others(36): Show c.482-452_482-451insCTTTTCTTTTTTTTTTTTTTT	SELENBP1	ENSG00000143416.21	transcript	ENST00000368868.10	protein_coding	5/11			chr1	TogoVar
SELENOI_chr2_26341143_26400885	26381198	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0262 a0001c0001t0005g0262	1	334	0.0030	21	c.683 others(38): Show c.683-2090_683-2070dupTTTTTTTTTTTTTTTTTTTTT	SELENOI	ENSG00000138018.19	transcript	ENST00000260585.12	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SELENOT_chr3_150598321_150635436	150631202	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG01891.hp2 HG02155.hp2 others(3): Show HG00438.hp1 HG01891.hp2 HG02155.hp2 NA18940.hp2 NA18949.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0022 a0001c0001t0023 a0001c0001t0002 a0001c0001t0022 a0001c0001t0023	a0001c0001t0002g0002 a0001c0001t0002g0193 a0001c0001t0002g0204 others(3): Show a0001c0001t0002g0002 a0001c0001t0002g0193 a0001c0001t0002g0204 a0001c0001t0002g0209 a0001c0001t0022g0009 a0001c0001t0023g0014	6	380	0.0158	21	c.35 others(32): Show c.3573_*3574insAAAAAAAAAAAAAAAAAAAAA	SELENOT	ENSG00000198843.14	transcript	ENST00000471696.6	protein_coding		767		chr3	TogoVar
SELENOV_chr19_39510139_39525675	39517964	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	436	0.0023	21	c.810 others(36): Show c.810-637_810-617dupAAAAAAAAAAAAAAAAAAAAA	SELENOV	ENSG00000186838.15	transcript	ENST00000335426.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
SELENOV_chr19_39510139_39525675	39517991	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0189 a0001c0002t0001g0189	1	436	0.0023	21	c.810 others(36): Show c.810-617_810-616insAAAAAAAAAAAAAAAAAAAAG	SELENOV	ENSG00000186838.15	transcript	ENST00000335426.9	protein_coding	1/5			chr19	TogoVar
SELPLG_chr12_108616895_108638894	108627161	C C	CTGGCCCT others(14): Show CTGGCCCTCACAATTATCCCCA	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0120 a0003c0003t0002g0120	1	486	0.0021	21	c.-5- others(36): Show c.-5-2870_-5-2850dupTGGGGATAATTGTGAGGGCCA	SELPLG	ENSG00000110876.10	transcript	ENST00000550948.2	protein_coding	1/1			chr12	TogoVar
SEMA3A_chr7_83950777_84199789	83965666	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0050 a0001c0001t0003g0050	1	276	0.0036	21	c.171 others(40): Show c.1718-2320_1718-2319insATATATATATATATATATATA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	15/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	83980603	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAACAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02280.hp1 NA20129.hp1 HG02055.hp1 HG02280.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0214 a0001c0001t0004g0215 a0001c0001t0004g0216 a0001c0001t0004g0214 a0001c0001t0004g0215 a0001c0001t0004g0216	3	276	0.0109	21	c.165 others(38): Show c.1652+717_1652+718insTTTTTTGTTTTTTTTTTTTTT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	14/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	83980623	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01168.hp2 HG01169.hp1 others(2): Show HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0004 a0001c0005t0004 a0001c0001t0004 a0001c0005t0004	a0001c0001t0004g0094 a0001c0001t0004g0108 a0001c0005t0004g0027 others(2): Show a0001c0001t0004g0094 a0001c0001t0004g0108 a0001c0005t0004g0027 a0001c0005t0004g0028 a0001c0005t0004g0194	5	276	0.0181	21	c.165 others(38): Show c.1652+697_1652+698insATATATTTTTTTTTTTTTTTT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	14/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	83980623	A A	AACAAAAA others(14): Show AACAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0022 a0001c0001t0004 a0001c0001t0022	a0001c0001t0004g0224 a0001c0001t0022g0225 a0001c0001t0004g0224 a0001c0001t0022g0225	2	276	0.0073	21	c.165 others(38): Show c.1652+697_1652+698insATATATTTTTTTTTTTTTTGT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	14/16			chr7	TogoVar
SEMA3B_chr3_50264147_50282546	50272855	A A	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02083.hp2 HG02258.hp2 others(2): Show HG01934.hp2 HG02083.hp2 HG02258.hp2 HG03130.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 a0001c0001t0001 a0001c0001t0002 a0002c0002t0003	a0001c0001t0001g0057 a0001c0001t0002g0035 a0001c0001t0002g0068 others(1): Show a0001c0001t0001g0057 a0001c0001t0002g0035 a0001c0001t0002g0068 a0002c0002t0003g0085	5	390	0.0128	21	c.665 others(36): Show c.665-437_665-417dupTAATAATAATAATAATAATAA	SEMA3B	ENSG00000012171.20	transcript	ENST00000616701.5	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
SEMA3B_chr3_50264147_50282546	50272879	T T	TAATAATA others(14): Show TAATAATAATAATAATAAAAAA	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0080 a0002c0002t0001g0080	1	390	0.0026	21	c.665 others(36): Show c.665-417_665-416insTAATAATAATAATAAAAAAAA	SEMA3B	ENSG00000012171.20	transcript	ENST00000616701.5	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
SEMA3B_chr3_50264147_50282546	50272879	T T	TAATAATA others(14): Show TAATAATAATAATAATAATAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00544.hp1 others(42): Show HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00673.hp1 HG00735.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG02004.hp2 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02132.hp1 HG02135.hp1 HG02293.hp1 HG02300.hp1 NA18612.hp1 NA18941.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18960.hp2 NA18961.hp2 NA18966.hp1 NA18971.hp1 NA18974.hp2 NA18975.hp1 NA18979.hp1 NA18982.hp1 NA18989.hp1 NA19000.hp2 NA19060.hp1 NA19062.hp1 NA19067.hp1 NA19075.hp2 NA19077.hp1 NA19078.hp1 NA19079.hp2 NA19084.hp1 NA19085.hp1 NA19088.hp2 NA19089.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0003 a0002c0002t0001g0024 a0002c0002t0001g0036 others(10): Show a0002c0002t0001g0003 a0002c0002t0001g0024 a0002c0002t0001g0036 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0074 a0002c0002t0001g0082 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0003g0003 a0002c0002t0003g0036 a0002c0002t0003g0039 a0002c0002t0003g0077	45	390	0.1154	21	c.665 others(36): Show c.665-417_665-416insTAATAATAATAATAATAAAAA	SEMA3B	ENSG00000012171.20	transcript	ENST00000616701.5	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
SEMA3C_chr7_80737538_80924051	80754948	T T	TTTTTTTT others(14): Show TTTTTTTTTGTTTTTTGTTTTG	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18969.hp2 NA19007.hp1 others(2): Show NA18950.hp1 NA18969.hp2 NA19007.hp1 NA19063.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0222 others(2): Show a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0002t0001g0014 a0001c0002t0001g0235	5	244	0.0205	21	c.164 others(40): Show c.1643+3382_1643+3383insCAAAACAAAAAACAAAAAAAA	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	15/17			chr7	TogoVar

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