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
SATB1_chr3_18340377_18430339	18344358	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 NA18968.hp2 HG02145.hp1 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0020 a0001c0001t0007 a0001c0001t0020	a0001c0001t0007g0093 a0001c0001t0020g0034 a0001c0001t0007g0093 a0001c0001t0020g0034	2	352	0.0057	19	c.47 others(30): Show c.4793_*4811dupAAAAAAAAAAAAAAAAAAA	SATB1	ENSG00000182568.18	transcript	ENST00000338745.11	protein_coding		1018		chr3	TogoVar
SATL1_chrX_85087284_85248779	85118087	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	232	0.0043	19	c.-31 others(38): Show c.-312-8808_-312-8807insAAAAAAAAAAAAAAAAAAA	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding	2/7			chrX	TogoVar
SAXO1_chr9_18922650_19038209	18925501	T T	TGTTTTGT others(12): Show TGTTTTGTTTTGTTTTTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0199 a0001c0001t0009g0199	1	364	0.0028	19	c.25 others(30): Show c.2532_*2550dupCACAAAAACAAAACAAAAC	SAXO1	ENSG00000155875.15	transcript	ENST00000380534.9	protein_coding		2148		chr9	TogoVar
SAYSD1_chr6_39099063_39120186	39117396	T T	TGGTTTGT others(12): Show TGGTTTGTAAGAGAAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0091 a0001c0001t0005g0091	1	460	0.0022	19	c.-23 others(30): Show c.-2308_-2307insTTCTTTTCTCTTACAAACC	SAYSD1	ENSG00000112167.11	transcript	ENST00000229903.5	protein_coding		2211		chr6	TogoVar
SBF2_chr11_9773668_10299219	10063881	A A	AGAGAGAG others(12): Show AGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	224	0.0045	19	c.142 others(38): Show c.142-20901_142-20900insCTCTCTCTCTCTCTCTCTC	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	2/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10211014	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG03669.hp1 HG00323.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0054 a0001c0001t0004g0008 a0001c0001t0001g0054 a0001c0001t0004g0008	2	224	0.0089	19	c.56- others(36): Show c.56-17046_56-17028dupTTTTTTTTTTTTTTTTTTT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10254900	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA19063.hp1 HG02074.hp1 NA19063.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0003 a0001c0001t0001 a0003c0004t0003	a0001c0001t0001g0120 a0003c0004t0003g0121 a0001c0001t0001g0120 a0003c0004t0003g0121	2	224	0.0089	19	c.55+ others(36): Show c.55+39096_55+39114dupTTTTTTTTTTTTTTTTTTT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBNO1_chr12_123284109_123369847	123297400	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp2 HG00738.hp1 others(21): Show HG00639.hp1 HG00735.hp2 HG00738.hp1 HG01071.hp2 HG01099.hp2 HG01109.hp1 HG01928.hp1 HG02071.hp1 HG02155.hp1 HG02451.hp1 HG02523.hp1 HG02683.hp2 HG02818.hp1 HG03492.hp2 HG03516.hp2 HG03688.hp2 HG04228.hp1 NA18747.hp1 NA18942.hp2 NA18949.hp1 NA18981.hp1 NA18999.hp1 NA19000.hp2 NA19090.hp2	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0001c0005 a0005c0017 others(1): Show a0001c0001 a0001c0005 a0005c0017 a0006c0016	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0017 a0001c0001t0018 a0001c0001t0027 a0001c0001t0033 a0001c0001t0056 a0001c0005t0015 a0001c0005t0025 a0005c0017t0059 a0006c0016t0001	a0001c0001t0001g0120 a0001c0001t0001g0153 a0001c0001t0001g0156 others(21): Show a0001c0001t0001g0120 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0161 a0001c0001t0001g0169 a0001c0001t0001g0175 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0199 a0001c0001t0001g0203 a0001c0001t0004g0214 a0001c0001t0007g0179 a0001c0001t0007g0215 a0001c0001t0017g0136 a0001c0001t0018g0194 a0001c0001t0027g0165 a0001c0001t0033g0186 a0001c0001t0056g0157 a0001c0005t0015g0205 a0001c0005t0015g0206 a0001c0005t0015g0207 a0001c0005t0025g0201 a0005c0017t0059g0184 a0006c0016t0001g0191	24	260	0.0923	19	c.403 others(36): Show c.4039+559_4039+577dupTTTTTTTTTTTTTTTTTTT	SBNO1	ENSG00000139697.14	transcript	ENST00000602398.3	protein_coding	31/31			chr12	TogoVar
SBNO1_chr12_123284109_123369847	123307020	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02738.hp2 NA18942.hp1 NA18999.hp2 HG02738.hp2 NA18942.hp1 NA18999.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0089 a0001c0002t0090 a0001c0002t0003 a0001c0002t0089 a0001c0002t0090	a0001c0002t0003g0232 a0001c0002t0089g0247 a0001c0002t0090g0222 a0001c0002t0003g0232 a0001c0002t0089g0247 a0001c0002t0090g0222	3	260	0.0115	19	c.363 others(38): Show c.3630+2271_3630+2289dupTTTTTTTTTTTTTTTTTTT	SBNO1	ENSG00000139697.14	transcript	ENST00000602398.3	protein_coding	28/31			chr12	TogoVar
SBNO1_chr12_123284109_123369847	123324205	C C	CCAGTCAT others(12): Show CCAGTCATTTCAACTGCTCA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02630.hp2 HG02922.hp2 HG02145.hp1 HG02630.hp2 HG02922.hp2	a0001 a0001	a0001c0010 a0001c0013 a0001c0010 a0001c0013	a0001c0010t0060 a0001c0010t0061 a0001c0013t0070 a0001c0010t0060 a0001c0010t0061 a0001c0013t0070	a0001c0010t0060g0130 a0001c0010t0061g0119 a0001c0013t0070g0193 a0001c0010t0060g0130 a0001c0010t0061g0119 a0001c0013t0070g0193	3	260	0.0115	19	c.197 others(36): Show c.1974-393_1974-375dupTGAGCAGTTGAAATGACTG	SBNO1	ENSG00000139697.14	transcript	ENST00000602398.3	protein_coding	15/31			chr12	TogoVar
SBNO2_chr19_1102638_1179268	1134138	C C	CCACAGCT others(12): Show CCACAGCTCACGGGTGGACT	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA20905.hp1 HG02074.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0090 a0001c0001t0001g0065 a0001c0001t0001g0090	2	203	0.0099	19	c.280 others(36): Show c.280-6392_280-6374dupAGTCCACCCGTGAGCTGTG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	4/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1134316	A A	ACGGGTGG others(12): Show ACGGGTGGACCCACAGCTCC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG01099.hp2 others(26): Show HG00408.hp2 HG00438.hp2 HG01099.hp2 HG01255.hp2 HG01891.hp1 HG01928.hp1 HG01943.hp1 HG02129.hp2 HG02257.hp1 HG02258.hp1 HG02451.hp2 HG02602.hp2 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG03195.hp2 HG03688.hp1 HG04184.hp1 HG04228.hp1 HG06807.hp2 NA18906.hp2 NA18945.hp1 NA19005.hp1 NA19030.hp1 NA19043.hp1 NA19057.hp1 NA19080.hp1 NA19081.hp1 NA19085.hp1	a0000 a0001 a0003 others(1): Show a0000 a0001 a0003 a0009	a0000c0014 a0001c0005 a0001c0007 others(9): Show a0000c0014 a0001c0005 a0001c0007 a0001c0010 a0001c0011 a0001c0020 a0001c0023 a0001c0024 a0001c0034 a0001c0035 a0003c0012 a0009c0031	a0000c0014t0001 a0001c0005t0001 a0001c0007t0001 others(9): Show a0000c0014t0001 a0001c0005t0001 a0001c0007t0001 a0001c0010t0001 a0001c0011t0001 a0001c0020t0001 a0001c0023t0001 a0001c0024t0001 a0001c0034t0001 a0001c0035t0001 a0003c0012t0002 a0009c0031t0001	a0000c0014t0001g0002 a0000c0014t0001g0067 a0000c0014t0001g0098 others(26): Show a0000c0014t0001g0002 a0000c0014t0001g0067 a0000c0014t0001g0098 a0001c0005t0001g0024 a0001c0005t0001g0045 a0001c0005t0001g0051 a0001c0005t0001g0068 a0001c0005t0001g0088 a0001c0005t0001g0104 a0001c0005t0001g0117 a0001c0005t0001g0123 a0001c0005t0001g0135 a0001c0005t0001g0160 a0001c0007t0001g0099 a0001c0007t0001g0176 a0001c0007t0001g0182 a0001c0007t0001g0185 a0001c0010t0001g0003 a0001c0010t0001g0022 a0001c0010t0001g0035 a0001c0011t0001g0073 a0001c0011t0001g0112 a0001c0020t0001g0028 a0001c0023t0001g0102 a0001c0024t0001g0179 a0001c0034t0001g0148 a0001c0035t0001g0158 a0003c0012t0002g0005 a0009c0031t0001g0196	29	203	0.1429	19	c.280 others(36): Show c.280-6570_280-6552dupGGAGCTGTGGGTCCACCCG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	4/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1134336	C C	CGGGTGGA others(12): Show CGGGTGGACCCACAGCTCCT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp2 HG02572.hp1 others(2): Show HG01243.hp1 HG02055.hp2 HG02572.hp1 HG02647.hp2 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0010 a0001c0032 a0001c0038 others(1): Show a0001c0010 a0001c0032 a0001c0038 a0003c0012	a0001c0010t0001 a0001c0032t0001 a0001c0038t0001 others(2): Show a0001c0010t0001 a0001c0032t0001 a0001c0038t0001 a0003c0012t0002 a0003c0012t0007	a0001c0010t0001g0193 a0001c0032t0001g0156 a0001c0038t0001g0153 others(2): Show a0001c0010t0001g0193 a0001c0032t0001g0156 a0001c0038t0001g0153 a0003c0012t0002g0178 a0003c0012t0007g0195	5	203	0.0246	19	c.280 others(36): Show c.280-6572_280-6571insAGGAGCTGTGGGTCCACCC	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	4/31			chr19	TogoVar
SBSPON_chr8_73059543_73098172	73067607	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00738.hp1 HG01884.hp2 others(2): Show HG00323.hp1 HG00738.hp1 HG01884.hp2 HG02559.hp2 NA20805.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0002c0002t0003 a0003c0003t0006 others(1): Show a0002c0002t0002 a0002c0002t0003 a0003c0003t0006 a0003c0003t0007	a0002c0002t0002g0209 a0002c0002t0003g0143 a0003c0003t0006g0085 others(2): Show a0002c0002t0002g0209 a0002c0002t0003g0143 a0003c0003t0006g0085 a0003c0003t0007g0053 a0003c0003t0007g0078	5	414	0.0121	19	c.678 others(34): Show c.678-150_678-149insATATATATATATATATATA	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SCAF8_chr6_154728416_154839221	154784155	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	282	0.0036	19	c.160 others(36): Show c.160-3703_160-3702insATATATATATATATATTAT	SCAF8	ENSG00000213079.10	transcript	ENST00000367178.8	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCAF8_chr6_154728416_154839221	154790489	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	282	0.0036	19	c.322 others(36): Show c.322-2313_322-2295dupTTTTTTTTTTTTTTTTTTT	SCAF8	ENSG00000213079.10	transcript	ENST00000367178.8	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCAI_chr9_124937608_125148528	125002488	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03098.hp2 HG01109.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0043 a0001c0001t0027g0044 a0001c0001t0027g0043 a0001c0001t0027g0044	2	306	0.0065	19	c.106 others(36): Show c.1066-446_1066-445insAAAAAAAAAAAAAAAAAAA	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	11/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106120	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0193 a0001c0001t0002g0193	1	306	0.0033	19	c.98+ others(36): Show c.98+36512_98+36513insATATATATATATATATATA	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0169 a0001c0001t0003g0169	1	306	0.0033	19	c.98+ others(36): Show c.98+36510_98+36511insATATTTTTTTTTTTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA19065.hp1 NA19065.hp2 HG00558.hp1 NA19065.hp1 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0013 a0001c0001t0064 a0002c0002t0032 a0001c0001t0013 a0001c0001t0064 a0002c0002t0032	a0001c0001t0013g0134 a0001c0001t0064g0158 a0002c0002t0032g0247 a0001c0001t0013g0134 a0001c0001t0064g0158 a0002c0002t0032g0247	3	306	0.0098	19	c.98+ others(36): Show c.98+36510_98+36511insATATATTTTTTTTTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00741.hp2 HG00609.hp1 HG00741.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0006 a0001c0001t0003 a0002c0002t0006	a0001c0001t0003g0148 a0002c0002t0006g0258 a0001c0001t0003g0148 a0002c0002t0006g0258	2	306	0.0065	19	c.98+ others(36): Show c.98+36510_98+36511insATATATATTTTTTTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03710.hp1 HG02055.hp1 HG03710.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0025 a0002c0004t0004 a0002c0002t0025 a0002c0004t0004	a0002c0002t0025g0280 a0002c0004t0004g0230 a0002c0002t0025g0280 a0002c0004t0004g0230	2	306	0.0065	19	c.98+ others(36): Show c.98+36510_98+36511insATATATATATTTTTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(12): Show AAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0274 a0002c0002t0014g0274	1	306	0.0033	19	c.98+ others(36): Show c.98+36510_98+36511insATATATATATATTTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAMP1_chr5_78355617_78485739	78430084	A A	AGTATTTA others(12): Show AGTATTTATTTATAAATACT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0324 a0001c0001t0003g0324	1	332	0.0030	19	c.632 others(36): Show c.632+8142_632+8143insTGTATTTATTTATAAATAC	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460796	C C	CTTTCTTT others(12): Show CTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03831.hp1 NA18984.hp1 HG03831.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0287 a0001c0001t0003g0319 a0001c0001t0003g0287 a0001c0001t0003g0319	2	332	0.0060	19	c.852 others(36): Show c.852+1434_852+1435insTTTCTTTCTTTCTTTCTTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8			chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460800	C C	CTTTCTTT others(12): Show CTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA18945.hp2 NA18994.hp2 HG03453.hp1 NA18945.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0279 a0001c0001t0003g0285 a0001c0001t0003g0289 a0001c0001t0003g0279 a0001c0001t0003g0285 a0001c0001t0003g0289	3	332	0.0090	19	c.852 others(36): Show c.852+1438_852+1439insTTTCTTTCTTTCTTTCTTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8			chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460804	C C	CTTTCTTT others(12): Show CTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03209.hp2 HG04184.hp1 others(1): Show HG02809.hp2 HG03209.hp2 HG04184.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0160 a0001c0001t0003g0288 a0001c0001t0003g0301 others(1): Show a0001c0001t0003g0160 a0001c0001t0003g0288 a0001c0001t0003g0301 a0001c0001t0003g0324	4	332	0.0121	19	c.852 others(36): Show c.852+1442_852+1443insTTTCTTTCTTTCTTTCTTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8			chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460808	C C	CTTTCTTT others(12): Show CTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0312 a0001c0001t0003g0312	1	332	0.0030	19	c.852 others(36): Show c.852+1446_852+1447insTTTCTTTCTTTCTTTCTTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8			chr5	TogoVar
SCAMP2_chr15_74838730_74878365	74873426	G G	GCCCGCCC others(12): Show GCCCGCCCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0300 a0001c0001t0019g0300	1	386	0.0026	19	c.-17 others(28): Show c.-172_-171insGGGGGGGGGGGGGGGCGGG	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding		62		chr15	TogoVar
SCAMP2_chr15_74838730_74878365	74874661	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0309 a0001c0001t0003g0309	1	386	0.0026	19	c.-14 others(30): Show c.-1407_-1406insATATTTTTTTTTTTTTTTT	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding		1297		chr15	TogoVar
SCAMP2_chr15_74838730_74878365	74874661	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0338 a0001c0001t0006g0338	1	386	0.0026	19	c.-14 others(30): Show c.-1407_-1406insATATATTTTTTTTTTTTTT	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding		1297		chr15	TogoVar
SCAMP2_chr15_74838730_74878365	74874661	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0323 a0001c0001t0003g0323	1	386	0.0026	19	c.-14 others(30): Show c.-1407_-1406insATATATATTTTTTTTTTTT	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding		1297		chr15	TogoVar
SCAMP2_chr15_74838730_74878365	74874661	A A	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp2 NA18956.hp1 NA19070.hp2 HG02004.hp2 NA18956.hp1 NA19070.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0002 a0001c0001t0004 a0003c0005t0003 a0001c0001t0002 a0001c0001t0004 a0003c0005t0003	a0001c0001t0002g0291 a0001c0001t0004g0324 a0003c0005t0003g0315 a0001c0001t0002g0291 a0001c0001t0004g0324 a0003c0005t0003g0315	3	386	0.0078	19	c.-14 others(30): Show c.-1407_-1406insATATATATATTTTTTTTTT	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding		1297		chr15	TogoVar
SCAMP4_chr19_1900399_1931013	1906865	A A	AATTGTGT others(12): Show AATTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	1	442	0.0023	19	c.-42 others(36): Show c.-42+1426_-42+1427insATTGTGTGTGTGTGTGTGT	SCAMP4	ENSG00000227500.11	transcript	ENST00000316097.13	protein_coding	1/6			chr19	TogoVar
SCAMP4_chr19_1900399_1931013	1906866	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0096 a0001c0001t0030g0096	1	442	0.0023	19	c.-42 others(36): Show c.-42+1427_-42+1428insGTGTGTGTGTGTGTGTGTG	SCAMP4	ENSG00000227500.11	transcript	ENST00000316097.13	protein_coding	1/6			chr19	TogoVar
SCAPER_chr15_76342904_76910340	76431676	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA18993.hp1 NA19043.hp2 HG02622.hp2 NA18993.hp1 NA19043.hp2	a0002 a0003 a0016 a0002 a0003 a0016	a0002c0002 a0003c0003 a0016c0019 a0002c0002 a0003c0003 a0016c0019	a0002c0002t0002 a0003c0003t0002 a0016c0019t0001 a0002c0002t0002 a0003c0003t0002 a0016c0019t0001	a0002c0002t0002g0304 a0003c0003t0002g0199 a0016c0019t0001g0127 a0002c0002t0002g0304 a0003c0003t0002g0199 a0016c0019t0001g0127	3	312	0.0096	19	c.331 others(38): Show c.3311+2383_3311+2401dupTTTTTTTTTTTTTTTTTTT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	26/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76488714	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG02132.hp2 NA18939.hp2 others(2): Show HG01516.hp1 HG02132.hp2 NA18939.hp2 NA18990.hp1 NA18993.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0222 a0002c0002t0002g0223 a0002c0002t0002g0260 others(2): Show a0002c0002t0002g0222 a0002c0002t0002g0223 a0002c0002t0002g0260 a0002c0002t0002g0269 a0002c0002t0002g0304	5	312	0.0160	19	c.295 others(40): Show c.2954+16126_2954+16144dupAAAAAAAAAAAAAAAAAAA	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	24/31			chr15	TogoVar
SCAP_chr3_47408681_47480941	47473080	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02280.hp1 HG02622.hp2 others(4): Show HG02055.hp1 HG02280.hp1 HG02622.hp2 HG03130.hp2 HG03516.hp1 HG03540.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 others(4): Show a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040	7	304	0.0230	19	c.-99 others(36): Show c.-99+2700_-99+2718dupTTTTTTTTTTTTTTTTTTT	SCAP	ENSG00000114650.21	transcript	ENST00000265565.10	protein_coding	1/22			chr3	TogoVar
SCARA3_chr8_27628902_27678018	27634807	G G	GAGCCAGC others(12): Show GAGCCAGCAGCAGGGTGGCC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03209.hp1 NA19240.hp2 HG02886.hp1 HG03209.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0004 a0001c0001t0005 a0002c0002t0004	a0001c0001t0005g0108 a0001c0001t0005g0368 a0002c0002t0004g0107 a0001c0001t0005g0108 a0001c0001t0005g0368 a0002c0002t0004g0107	3	408	0.0074	19	c.7+6 others(30): Show c.7+601_7+619dupAGCCAGCAGCAGGGTGGCC	SCARA3	ENSG00000168077.14	transcript	ENST00000301904.4	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
SCARA3_chr8_27628902_27678018	27668546	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	408	0.0025	19	c.137 others(38): Show c.1370-2338_1370-2337insAAAAAAAAAAAAAAAAAAA	SCARA3	ENSG00000168077.14	transcript	ENST00000301904.4	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
SCARA5_chr8_27864883_27997673	27907572	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03017.hp1 HG04184.hp1 others(3): Show HG01891.hp2 HG03017.hp1 HG04184.hp1 NA18943.hp2 NA19000.hp1 NA19087.hp1	a0002 a0002	a0002c0006 a0002c0010 a0002c0015 others(1): Show a0002c0006 a0002c0010 a0002c0015 a0002c0017	a0002c0006t0001 a0002c0010t0003 a0002c0015t0014 others(1): Show a0002c0006t0001 a0002c0010t0003 a0002c0015t0014 a0002c0017t0020	a0002c0006t0001g0153 a0002c0006t0001g0284 a0002c0006t0001g0299 others(3): Show a0002c0006t0001g0153 a0002c0006t0001g0284 a0002c0006t0001g0299 a0002c0010t0003g0177 a0002c0015t0014g0227 a0002c0017t0020g0033	6	314	0.0191	19	c.998 others(34): Show c.998-345_998-327dupAAAAAAAAAAAAAAAAAAA	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	5/8			chr8	TogoVar
SCARA5_chr8_27864883_27997673	27936592	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01261.hp1 HG01884.hp2 HG00733.hp2 HG01261.hp1 HG01884.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0004 a0001c0007t0064 a0001c0007t0001 a0001c0007t0004 a0001c0007t0064	a0001c0007t0001g0117 a0001c0007t0004g0159 a0001c0007t0064g0314 a0001c0007t0001g0117 a0001c0007t0004g0159 a0001c0007t0064g0314	3	314	0.0096	19	c.242 others(38): Show c.242-14366_242-14348dupTTTTTTTTTTTTTTTTTTT	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	3/8			chr8	TogoVar
SCARB1_chr12_124771856_124868864	124837594	A A	AAAAGAAA others(12): Show AAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 NA18994.hp2 HG00140.hp1 NA18994.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0081 a0001c0002t0001g0269 a0001c0002t0001g0081 a0001c0002t0001g0269	2	356	0.0056	19	c.127 others(38): Show c.127-19888_127-19887insCTTTTCTTTTCTTTTCTTT	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCARF1_chr17_1628858_1650732	1643238	T T	TCCCCGCC others(12): Show TCCCCGCCCACCGGTGTCCG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG00639.hp2 others(40): Show HG00544.hp2 HG00558.hp2 HG00639.hp2 HG00738.hp2 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01981.hp2 HG01993.hp1 HG02027.hp1 HG02055.hp1 HG02132.hp1 HG02451.hp1 HG02572.hp1 HG02698.hp2 HG03490.hp1 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03831.hp1 HG03942.hp2 HG04199.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp2 NA18948.hp2 NA18951.hp1 NA18956.hp1 NA18960.hp1 NA18964.hp2 NA18967.hp2 NA18969.hp2 NA18971.hp2 NA18979.hp2 NA18992.hp1 NA18992.hp2 NA18999.hp2 NA19055.hp2 NA19060.hp1 NA19066.hp2 NA19085.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0005 a0006 a0011 a0014 a0032	a0001c0001 a0001c0010 a0002c0002 others(7): Show a0001c0001 a0001c0010 a0002c0002 a0002c0019 a0004c0004 a0005c0005 a0006c0007 a0011c0012 a0014c0015 a0032c0035	a0001c0001t0001 a0001c0001t0006 a0001c0010t0001 others(13): Show a0001c0001t0001 a0001c0001t0006 a0001c0010t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0019t0001 a0004c0004t0002 a0005c0005t0002 a0005c0005t0003 a0006c0007t0004 a0011c0012t0002 a0011c0012t0008 a0014c0015t0002 a0032c0035t0002	a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0053 others(25): Show a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0006g0178 a0001c0010t0001g0066 a0002c0002t0001g0177 a0002c0002t0002g0026 a0002c0002t0002g0047 a0002c0002t0002g0172 a0002c0002t0002g0175 a0002c0002t0003g0174 a0002c0002t0005g0048 a0002c0002t0005g0173 a0002c0002t0005g0184 a0002c0019t0001g0057 a0004c0004t0002g0050 a0005c0005t0002g0176 a0005c0005t0003g0171 a0006c0007t0004g0183 a0011c0012t0002g0051 a0011c0012t0008g0207 a0014c0015t0002g0049 a0032c0035t0002g0206	43	401	0.1072	19	c.791 others(34): Show c.791+185_791+203dupCGGACACCGGTGGGCGGGG	SCARF1	ENSG00000074660.17	transcript	ENST00000263071.9	protein_coding	4/10			chr17	TogoVar
SCARF1_chr17_1628858_1650732	1643241	C C	CCGCCCAC others(12): Show CCGCCCACCGGTGTCCGCCG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0128 a0002c0002t0002g0128	1	401	0.0025	19	c.791 others(34): Show c.791+200_791+201insCGGCGGACACCGGTGGGCG	SCARF1	ENSG00000074660.17	transcript	ENST00000263071.9	protein_coding	4/10			chr17	TogoVar
SCART1_chr10_133448945_133474760	133453920	G G	GTGACTCT others(12): Show GTGACTCTGGGCTGTGACCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	1	434	0.0023	19	c.-78 others(26): Show c.-78_-77insTGACTCTGGGCTGTGACCT	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding		24		chr10	TogoVar
SCD5_chr4_82624539_82803796	82670642	C C	CATATCAA others(12): Show CATATCAATTGATATGGCAA	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	210	0.0048	19	c.569 others(38): Show c.569+10064_569+10065insTTGCCATATCAATTGATAT	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	3/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82679211	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAGAG	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA19007.hp2 HG02109.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0170 a0001c0001t0009g0198 a0001c0001t0001g0170 a0001c0001t0009g0198	2	210	0.0095	19	c.569 others(36): Show c.569+1495_569+1496insCTCTCTTTCTTTCTTTCTT	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	3/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82679220	A A	AAAGAAAG others(12): Show AAAGAAAGAGAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	210	0.0048	19	c.569 others(36): Show c.569+1486_569+1487insCTTTCTTTCTCTCTTTCTT	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	3/4			chr4	TogoVar
SCEL_chr13_77530706_77650263	77633442	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG03041.hp2 HG03225.hp1 others(3): Show HG02015.hp2 HG03041.hp2 HG03225.hp1 NA18612.hp2 NA18975.hp1 NA18998.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0086 a0001c0004t0002g0122 a0001c0004t0002g0123 others(3): Show a0001c0004t0002g0086 a0001c0004t0002g0122 a0001c0004t0002g0123 a0001c0004t0002g0224 a0001c0004t0002g0288 a0001c0004t0002g0289	6	356	0.0169	19	c.169 others(36): Show c.1692-931_1692-913dupAAAAAAAAAAAAAAAAAAA	SCEL	ENSG00000136155.17	transcript	ENST00000349847.4	protein_coding	28/32		INFO_REALIGN_3_PRIME	chr13	TogoVar

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