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
SNX10_chr7_26286862_26379383	26325306	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp1 HG00639.hp2 others(11): Show HG00323.hp1 HG00639.hp1 HG00639.hp2 HG01071.hp2 HG01516.hp2 HG02129.hp2 HG02145.hp2 HG02818.hp2 HG02922.hp2 HG03486.hp1 HG03834.hp2 NA19055.hp2 NA19074.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0008 a0001c0001t0001g0088 a0001c0001t0001g0137 others(11): Show a0001c0001t0001g0008 a0001c0001t0001g0088 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0160 a0001c0001t0001g0170 a0001c0001t0001g0257 a0001c0001t0001g0281 a0001c0001t0001g0306 a0001c0001t0001g0310 a0001c0001t0001g0319 a0001c0001t0001g0345 a0001c0001t0001g0374 a0001c0001t0004g0121	14	390	0.0359	32	c.-23 others(51): Show c.-23-21092_-23-21091insATATATATATATATATATATATATAT ATATAT	SNX10	ENSG00000086300.17	transcript	ENST00000338523.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
SNX12_chrX_71054247_71073334	71071709	G G	GATATATA others(25): Show GATATATAAATATATATATAAATATATATTTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0096 a0001c0001t0011g0096	1	309	0.0032	32	c.-34 others(43): Show c.-3435_-3404dupATAAATATATATTTATATATATATTTATATAT	SNX12	ENSG00000147164.12	transcript	ENST00000374274.8	protein_coding		3376		chrX	TogoVar
SNX12_chrX_71054247_71073334	71071721	T T	TATATATA others(25): Show TATATATAAATATATATTTATATATATAAATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	309	0.0032	32	c.-34 others(43): Show c.-3447_-3416dupTTATTTATATATATAAATATATATTTATATAT	SNX12	ENSG00000147164.12	transcript	ENST00000374274.8	protein_coding		3388		chrX	TogoVar
SNX13_chr7_17785761_17945494	17805250	T T	TGTGTGTG others(25): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0117 a0001c0001t0004g0117	1	338	0.0030	32	c.206 others(51): Show c.2065-1671_2065-1670insGCGCGCACACACACACACACACACAC ACACAC	SNX13	ENSG00000071189.21	transcript	ENST00000428135.7	protein_coding	20/25			chr7	TogoVar
SNX18_chr5_54512759_54551586	54513720	T T	TTATATAT others(25): Show TTATATATAATATATAAATTTATATATTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp2 others(27): Show HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00733.hp1 HG00735.hp2 HG01070.hp1 HG01071.hp1 HG01109.hp1 HG01123.hp1 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01517.hp1 HG02040.hp1 HG02071.hp1 HG02647.hp2 HG02897.hp2 HG03471.hp1 HG03688.hp2 HG03710.hp1 HG03927.hp1 HG03942.hp1 HG04204.hp2 NA18954.hp1 NA18978.hp1 NA18980.hp2 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0005 a0001c0009 a0004c0018 a0001c0005 a0001c0009 a0004c0018	a0001c0005t0001 a0001c0005t0002 a0001c0005t0004 others(10): Show a0001c0005t0001 a0001c0005t0002 a0001c0005t0004 a0001c0005t0006 a0001c0005t0011 a0001c0005t0020 a0001c0005t0032 a0001c0005t0041 a0001c0005t0048 a0001c0009t0011 a0001c0009t0020 a0001c0009t0049 a0004c0018t0004	a0001c0005t0001g0182 a0001c0005t0002g0170 a0001c0005t0004g0007 others(20): Show a0001c0005t0001g0182 a0001c0005t0002g0170 a0001c0005t0004g0007 a0001c0005t0004g0022 a0001c0005t0004g0031 a0001c0005t0004g0168 a0001c0005t0004g0169 a0001c0005t0004g0173 a0001c0005t0004g0180 a0001c0005t0004g0183 a0001c0005t0006g0172 a0001c0005t0006g0184 a0001c0005t0011g0174 a0001c0005t0011g0176 a0001c0005t0011g0179 a0001c0005t0020g0022 a0001c0005t0032g0181 a0001c0005t0041g0022 a0001c0005t0048g0178 a0001c0009t0011g0177 a0001c0009t0020g0007 a0001c0009t0049g0171 a0004c0018t0004g0031	30	390	0.0769	32	c.-42 others(43): Show c.-4233_-4232insTATATATAATATATAAATTTATATATTATATA	SNX18	ENSG00000178996.14	transcript	ENST00000381410.5	protein_coding		4038		chr5	TogoVar
SNX18_chr5_54512759_54551586	54514091	T T	TATATATG others(25): Show TATATATGATATATAAATTTATATAATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0118 a0001c0003t0005g0118	1	390	0.0026	32	c.-38 others(43): Show c.-3862_-3861insATATATGATATATAAATTTATATAATATATAA	SNX18	ENSG00000178996.14	transcript	ENST00000381410.5	protein_coding		3667		chr5	TogoVar
SNX1_chr15_64090982_64149231	64124147	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0153 a0001c0001t0003g0153	1	270	0.0037	32	c.510 others(47): Show c.510+602_510+633dupATATATATATATATATATATATATATATAT AT	SNX1	ENSG00000028528.15	transcript	ENST00000559844.6	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
SNX25_chr4_185204598_185368966	185300840	G G	GACACACA others(25): Show GACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	276	0.0036	32	c.116 others(51): Show c.1163-9791_1163-9760dupCACACACACACACACACACACACACA CACACA	SNX25	ENSG00000109762.17	transcript	ENST00000652585.2	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
SNX27_chr1_151607050_151704080	151681235	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01515.hp1 HG01433.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0034 a0001c0001t0009 a0001c0001t0034	a0001c0001t0009g0196 a0001c0001t0034g0241 a0001c0001t0009g0196 a0001c0001t0034g0241	2	366	0.0055	32	c.115 others(51): Show c.1150-2097_1150-2096insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SNX27	ENSG00000143376.14	transcript	ENST00000458013.7	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SNX27_chr1_151607050_151704080	151696498	T T	TTTCTTTC others(25): Show TTTCTTTCTTTCTTTCGTTCTTTCGTTCTTTCG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp1 NA18962.hp2 NA18979.hp1 others(1): Show HG00323.hp1 NA18962.hp2 NA18979.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0052 a0001c0001t0051 a0001c0001t0052	a0001c0001t0051g0215 a0001c0001t0051g0272 a0001c0001t0052g0235 others(1): Show a0001c0001t0051g0215 a0001c0001t0051g0272 a0001c0001t0052g0235 a0001c0001t0052g0238	4	366	0.0109	32	c.20 others(43): Show c.2088_*2089insTTTCTTTCGTTCTTTCGTTCTTTCGTTCTTTC	SNX27	ENSG00000143376.14	transcript	ENST00000458013.7	protein_coding	12/12	2089	INFO_REALIGN_3_PRIME	chr1	TogoVar
SNX29_chr16_11971734_12579287	12393416	T T	TCATTCAT others(25): Show TCATTCATTCATTCATGCATGCATGCATGCATG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03225.hp2 HG01891.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0003t0062 a0001c0001t0006 a0001c0003t0062	a0001c0001t0006g0064 a0001c0003t0062g0075 a0001c0001t0006g0064 a0001c0003t0062g0075	2	176	0.0114	32	c.190 others(51): Show c.1900-5015_1900-5014insGCATGCATGCATGCATGCATTCATTC ATTCAT	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX29_chr16_11971734_12579287	12476397	T T	TATATATA others(25): Show TATATATATATACATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0083 a0001c0004t0083	a0001c0004t0083g0068 a0001c0004t0083g0068	1	176	0.0057	32	c.203 others(51): Show c.2038-1311_2038-1310insCATATATATATATATATATACATATA TATATA	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX29_chr16_11971734_12579287	12483114	G G	GTTTTTTT others(25): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0043 a0001c0003t0043	a0001c0003t0043g0074 a0001c0003t0043g0074	1	176	0.0057	32	c.217 others(51): Show c.2178+5284_2178+5285insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	19/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX2_chr5_122770080_122839543	122806142	G G	GCGCGCAC others(25): Show GCGCGCACGCGCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02300.hp1 NA19003.hp1 HG01975.hp2 HG02300.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0165 a0001c0001t0003g0184 a0001c0001t0004g0221 a0001c0001t0003g0165 a0001c0001t0003g0184 a0001c0001t0004g0221	3	372	0.0081	32	c.644 others(49): Show c.644-2134_644-2133insGCGCACGCGCACACACACACACACACAC ACAC	SNX2	ENSG00000205302.7	transcript	ENST00000379516.7	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
SNX2_chr5_122770080_122839543	122806142	G G	GCGCGCAC others(25): Show GCGCGCACGCGCGCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0214 a0001c0001t0003g0214	1	372	0.0027	32	c.644 others(49): Show c.644-2134_644-2133insGCGCACGCGCGCACACACACACACACAC ACAC	SNX2	ENSG00000205302.7	transcript	ENST00000379516.7	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
SNX2_chr5_122770080_122839543	122806142	G G	GCGCGCAC others(25): Show GCGCGCACGCGCGCGCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0198 a0001c0001t0003g0198	1	372	0.0027	32	c.644 others(49): Show c.644-2134_644-2133insGCGCACGCGCGCGCACACACACACACAC ACAC	SNX2	ENSG00000205302.7	transcript	ENST00000379516.7	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
SNX2_chr5_122770080_122839543	122806142	G G	GCGCGCGC others(25): Show GCGCGCGCACGCGCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0211 a0001c0001t0004g0211	1	372	0.0027	32	c.644 others(49): Show c.644-2134_644-2133insGCGCGCACGCGCACACACACACACACAC ACAC	SNX2	ENSG00000205302.7	transcript	ENST00000379516.7	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
SNX2_chr5_122770080_122839543	122806142	G G	GCGCGCGC others(25): Show GCGCGCGCGCGCACACGCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0151 a0001c0002t0024g0151	1	372	0.0027	32	c.644 others(49): Show c.644-2134_644-2133insGCGCGCGCGCACACGCACACACACACAC ACAC	SNX2	ENSG00000205302.7	transcript	ENST00000379516.7	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
SNX30_chr9_112745760_112879987	112817401	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0053 a0001c0002t0053	a0001c0002t0053g0222 a0001c0002t0053g0222	1	338	0.0030	32	c.349 others(47): Show c.349-274_349-273insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	SNX30	ENSG00000148158.17	transcript	ENST00000374232.8	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
SNX30_chr9_112745760_112879987	112865661	A A	ATATGTGT others(25): Show ATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0016 a0002c0003t0004g0016	1	338	0.0030	32	c.125 others(51): Show c.1254+1263_1254+1264insATGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	SNX30	ENSG00000148158.17	transcript	ENST00000374232.8	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
SNX31_chr8_100567889_100654665	100635222	T T	TTTTATTT others(25): Show TTTTATTTATTTATTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01346.hp1 others(7): Show HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01496.hp1 HG01943.hp2 HG01975.hp1 HG03490.hp2 HG03492.hp1 HG03579.hp1 NA18989.hp1	a0003 a0005 a0007 others(1): Show a0003 a0005 a0007 a0008	a0003c0003 a0005c0005 a0007c0007 others(1): Show a0003c0003 a0005c0005 a0007c0007 a0008c0008	a0003c0003t0004 a0005c0005t0004 a0007c0007t0004 others(1): Show a0003c0003t0004 a0005c0005t0004 a0007c0007t0004 a0008c0008t0004	a0003c0003t0004g0006 a0003c0003t0004g0138 a0003c0003t0004g0146 others(6): Show a0003c0003t0004g0006 a0003c0003t0004g0138 a0003c0003t0004g0146 a0005c0005t0004g0153 a0007c0007t0004g0154 a0008c0008t0004g0141 a0008c0008t0004g0144 a0008c0008t0004g0145 a0008c0008t0004g0155	10	304	0.0329	32	c.256 others(47): Show c.256+674_256+675insTAAATAAATAAATAAATAAATAAATAAATA AA	SNX31	ENSG00000174226.9	transcript	ENST00000311812.7	protein_coding	3/13			chr8	TogoVar
SNX32_chr11_65828963_65858701	65839223	G G	GTTTTTTT others(25): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0242 a0001c0001t0002g0242	1	390	0.0026	32	c.36+ others(47): Show c.36+5123_36+5124insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	SNX32	ENSG00000172803.18	transcript	ENST00000308342.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
SNX4_chr3_125441650_125525202	125495250	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03704.hp2 NA18951.hp1 HG03704.hp2 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0128 a0001c0001t0001g0038 a0001c0001t0001g0128	2	360	0.0056	32	c.597 others(49): Show c.597+2090_597+2091insTATATATATATATATATATATATATATA TATA	SNX4	ENSG00000114520.11	transcript	ENST00000251775.9	protein_coding	5/13			chr3	TogoVar
SNX4_chr3_125441650_125525202	125495277	T T	TATATATA others(25): Show TATATATATATATATATATATATATACATACAC	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA19065.hp1 NA18943.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0303 a0001c0001t0002g0306 a0001c0001t0002g0303 a0001c0001t0002g0306	2	360	0.0056	32	c.597 others(49): Show c.597+2063_597+2064insGTGTATGTATATATATATATATATATAT ATAT	SNX4	ENSG00000114520.11	transcript	ENST00000251775.9	protein_coding	5/13			chr3	TogoVar
SNX4_chr3_125441650_125525202	125495277	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03942.hp1 NA18999.hp1 HG03942.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0217 a0001c0001t0002g0242 a0001c0001t0001g0217 a0001c0001t0002g0242	2	360	0.0056	32	c.597 others(49): Show c.597+2063_597+2064insGTGTATATATATATATATATATATATAT ATAT	SNX4	ENSG00000114520.11	transcript	ENST00000251775.9	protein_coding	5/13			chr3	TogoVar
SNX4_chr3_125441650_125525202	125495277	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	360	0.0028	32	c.597 others(49): Show c.597+2063_597+2064insGTATATATATATATATATATATATATAT ATAT	SNX4	ENSG00000114520.11	transcript	ENST00000251775.9	protein_coding	5/13			chr3	TogoVar
SNX7_chr1_98656721_98765500	98763441	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0310	1	378	0.0027	32	c.33 others(43): Show c.3310_*3311insATATATATATATATATATATATATATATATAT	SNX7	ENSG00000162627.17	transcript	ENST00000306121.8	protein_coding		2942		chr1	TogoVar
SNX7_chr1_98656721_98765500	98763443	A A	AAAATATA others(25): Show AAAATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG03669.hp1 HG02630.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0284 a0001c0001t0001g0281 a0001c0001t0001g0284	2	378	0.0053	32	c.33 others(43): Show c.3312_*3313insAAATATATATATATATATATATATATATATAT	SNX7	ENSG00000162627.17	transcript	ENST00000306121.8	protein_coding		2944		chr1	TogoVar
SNX9_chr6_157818246_157950077	157914469	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	302	0.0033	32	c.949 others(49): Show c.949+4467_949+4468insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SOAT1_chr1_179288797_179363680	179313506	C C	CTGTGTAT others(25): Show CTGTGTATATATGTGTATATATATATGTATATG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02293.hp2 NA18983.hp2 HG01978.hp1 HG02293.hp2 NA18983.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0004 a0002c0003t0002 a0001c0001t0004 a0002c0003t0002	a0001c0001t0004g0264 a0001c0001t0004g0272 a0002c0003t0002g0273 a0001c0001t0004g0264 a0001c0001t0004g0272 a0002c0003t0002g0273	3	382	0.0079	32	c.119 others(49): Show c.119-9887_119-9856dupGTGTATATATATATGTATATGTGTGTAT ATAT	SOAT1	ENSG00000057252.13	transcript	ENST00000367619.8	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SOCS4_chr14_55022236_55054489	55041783	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA20752.hp2 HG02258.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0153 a0001c0001t0003g0129 a0001c0001t0002g0153 a0001c0001t0003g0129	2	394	0.0051	32	c.-90 others(49): Show c.-90-1143_-90-1142insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	SOCS4	ENSG00000180008.9	transcript	ENST00000555846.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr14	TogoVar
SOCS7_chr17_38346844_38410593	38389865	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATGTACATA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0173 a0001c0001t0017g0173	1	289	0.0035	32	c.168 others(51): Show c.1682-5442_1682-5441insTATATATATATATATATATATATGTA CATATA	SOCS7	ENSG00000274211.6	transcript	ENST00000612932.6	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
SOCS7_chr17_38346844_38410593	38389871	A A	ATATATGT others(25): Show ATATATGTACATATATATATATGTGTATGTGTG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	289	0.0035	32	c.168 others(51): Show c.1682-5433_1682-5432insGTACATATATATATATGTGTATGTGT GTATAT	SOCS7	ENSG00000274211.6	transcript	ENST00000612932.6	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
SOCS7_chr17_38346844_38410593	38389894	T T	TATATATG others(25): Show TATATATGTACATATATATATATATATATGTAC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0015 a0001c0001t0013g0015	1	289	0.0035	32	c.168 others(51): Show c.1682-5410_1682-5409insTGTACATATATATATATATATATGTA CATATA	SOCS7	ENSG00000274211.6	transcript	ENST00000612932.6	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
SOGA1_chr20_36772447_36868538	36826326	T T	TCCCCCCT others(25): Show TCCCCCCTCCCTCCCCCTCCCCCCCTCCCCCTC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03471.hp1 HG02622.hp2 HG03471.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0009 a0002c0004t0012 a0002c0004t0009 a0002c0004t0012	a0002c0004t0009g0061 a0002c0004t0012g0080 a0002c0004t0009g0061 a0002c0004t0012g0080	2	282	0.0071	32	c.107 others(51): Show c.1071+2727_1071+2728insGAGGGGGAGGGGGGGAGGGGGAGGGA GGGGGG	SOGA1	ENSG00000149639.15	transcript	ENST00000237536.9	protein_coding	3/14			chr20	TogoVar
SOGA1_chr20_36772447_36868538	36826326	T T	TCCCCCCT others(25): Show TCCCCCCTCCCTCCCCCTCCCCCCTCCCCCCTC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0010 a0002c0004t0010	a0002c0004t0010g0125 a0002c0004t0010g0125	1	282	0.0036	32	c.107 others(51): Show c.1071+2727_1071+2728insGAGGGGGGAGGGGGGAGGGGGAGGGA GGGGGG	SOGA1	ENSG00000149639.15	transcript	ENST00000237536.9	protein_coding	3/14			chr20	TogoVar
SOHLH2_chr13_36163217_36219556	36184460	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG03239.hp2 HG01192.hp1 HG03239.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0012 a0001c0001 a0007c0012	a0001c0001t0001 a0007c0012t0001 a0001c0001t0001 a0007c0012t0001	a0001c0001t0001g0198 a0007c0012t0001g0329 a0001c0001t0001g0198 a0007c0012t0001g0329	2	420	0.0048	32	c.641 others(49): Show c.641+5485_641+5486insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	SOHLH2	ENSG00000120669.16	transcript	ENST00000379881.8	protein_coding	6/10			chr13	TogoVar
SORBS1_chr10_95306773_95566371	95347441	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0002 a0001c0029t0002	a0001c0029t0002g0129 a0001c0029t0002g0129	1	300	0.0033	32	c.238 others(49): Show c.2383-990_2383-989insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	SORBS1	ENSG00000095637.23	transcript	ENST00000371247.7	protein_coding	25/32			chr10	TogoVar
SORBS2_chr4_185580523_185817194	185588592	T T	TTCCTCCT others(25): Show TTCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00408.hp1 others(69): Show HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00738.hp1 HG01069.hp1 HG01071.hp1 HG01106.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01515.hp2 HG02071.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02273.hp2 HG02293.hp1 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02698.hp2 HG02818.hp2 HG03492.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03942.hp2 HG04115.hp1 NA18612.hp2 NA18747.hp2 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18949.hp1 NA18955.hp2 NA18964.hp1 NA18964.hp2 NA18971.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19057.hp2 NA19074.hp2 NA19077.hp1 NA19085.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1	a0001 a0008 a0011 a0001 a0008 a0011	a0001c0001 a0001c0002 a0001c0010 others(4): Show a0001c0001 a0001c0002 a0001c0010 a0001c0018 a0001c0037 a0008c0035 a0011c0039	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(22): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0023 a0001c0001t0024 a0001c0001t0029 a0001c0001t0047 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0061 a0001c0001t0065 a0001c0001t0066 a0001c0001t0075 a0001c0002t0002 a0001c0010t0029 a0001c0018t0002 a0001c0037t0030 a0008c0035t0002 a0011c0039t0003	a0001c0001t0002g0014 a0001c0001t0002g0047 a0001c0001t0002g0053 others(69): Show a0001c0001t0002g0014 a0001c0001t0002g0047 a0001c0001t0002g0053 a0001c0001t0002g0065 a0001c0001t0002g0086 a0001c0001t0002g0092 a0001c0001t0002g0109 a0001c0001t0002g0126 a0001c0001t0002g0130 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0153 a0001c0001t0002g0167 a0001c0001t0002g0181 a0001c0001t0002g0184 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0204 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0214 a0001c0001t0002g0241 a0001c0001t0002g0259 a0001c0001t0002g0261 a0001c0001t0002g0269 a0001c0001t0002g0296 a0001c0001t0002g0300 a0001c0001t0002g0304 a0001c0001t0003g0186 a0001c0001t0003g0280 a0001c0001t0009g0050 a0001c0001t0009g0196 a0001c0001t0009g0227 a0001c0001t0009g0228 a0001c0001t0009g0233 a0001c0001t0009g0243 a0001c0001t0009g0260 a0001c0001t0009g0267 a0001c0001t0012g0133 a0001c0001t0012g0134 a0001c0001t0013g0144 a0001c0001t0013g0145 a0001c0001t0013g0154 a0001c0001t0013g0173 a0001c0001t0013g0236 a0001c0001t0015g0080 a0001c0001t0015g0208 a0001c0001t0015g0225 a0001c0001t0015g0246 a0001c0001t0015g0253 a0001c0001t0017g0102 a0001c0001t0023g0119 a0001c0001t0024g0251 a0001c0001t0024g0275 a0001c0001t0029g0271 a0001c0001t0047g0177 a0001c0001t0052g0266 a0001c0001t0053g0274 a0001c0001t0054g0112 a0001c0001t0055g0052 a0001c0001t0061g0191 a0001c0001t0065g0180 a0001c0001t0066g0103 a0001c0001t0075g0076 a0001c0002t0002g0131 a0001c0010t0029g0043 a0001c0018t0002g0237 a0001c0037t0030g0088 a0008c0035t0002g0025 a0011c0039t0003g0312	72	312	0.2308	32	c.384 others(49): Show c.3842-905_3842-904insGGAGGGAGGAGGAGGAGGGAGGAGGAGG AGGA	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	26/26			chr4	TogoVar
SORBS2_chr4_185580523_185817194	185751190	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03139.hp1 HG03486.hp2 HG02922.hp2 HG03139.hp1 HG03486.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0036 a0001c0001 a0009c0036	a0001c0001t0021 a0001c0001t0036 a0009c0036t0070 a0001c0001t0021 a0001c0001t0036 a0009c0036t0070	a0001c0001t0021g0058 a0001c0001t0036g0002 a0009c0036t0070g0218 a0001c0001t0021g0058 a0001c0001t0036g0002 a0009c0036t0070g0218	3	312	0.0096	32	c.-96 others(51): Show c.-96-17037_-96-17036insCTCTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	2/26			chr4	TogoVar
SORCS1_chr10_106568663_107169706	106878646	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	130	0.0077	32	c.627 others(51): Show c.627-48974_627-48973insAATATATATATATATATATATATATA TATATA	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	2/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	107065415	T T	TTTTCTTT others(25): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01258.hp1 HG01891.hp1 HG00639.hp2 HG01258.hp1 HG01891.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0005 a0004c0008 a0001c0001 a0001c0005 a0004c0008	a0001c0001t0002 a0001c0005t0001 a0004c0008t0005 a0001c0001t0002 a0001c0005t0001 a0004c0008t0005	a0001c0001t0002g0023 a0001c0005t0001g0062 a0004c0008t0005g0092 a0001c0001t0002g0023 a0001c0005t0001g0062 a0004c0008t0005g0092	3	130	0.0231	32	c.558 others(51): Show c.558+98522_558+98553dupGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAA	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	1/25			chr10	TogoVar
SORCS2_chr4_7187538_7747827	7373478	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0036 a0003c0012t0036	a0003c0012t0036g0010 a0003c0012t0036g0010	1	168	0.0060	32	c.481 others(51): Show c.481-22809_481-22808insATATATATATATATATATATATATAT ATTTTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7373478	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0006 a0006	a0006c0022 a0006c0022	a0006c0022t0039 a0006c0022t0039	a0006c0022t0039g0153 a0006c0022t0039g0153	1	168	0.0060	32	c.481 others(51): Show c.481-22809_481-22808insATATATATATATATATATATATATAT TTTTTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7373478	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0055 a0003c0012t0055	a0003c0012t0055g0033 a0003c0012t0055g0033	1	168	0.0060	32	c.481 others(51): Show c.481-22809_481-22808insATATATATATATATATATATATATTT TTTTTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7448854	C C	CCCTTCCT others(25): Show CCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0061 a0001c0002t0061	a0001c0002t0061g0121 a0001c0002t0061g0121	1	168	0.0060	32	c.548 others(51): Show c.548+52502_548+52503insTCCTCCCTCCCTTCCTCCCTCCCTCC CTTCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7449253	C C	CCCTCCCT others(25): Show CCCTCCCTTCCTCCCTCCCTCCCTCCCTCTCTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0014 a0001c0005t0014	a0001c0005t0014g0102 a0001c0005t0014g0102	1	168	0.0060	32	c.548 others(51): Show c.548+52905_548+52906insTCCTCCCTCCCTCCCTCCCTCTCTTC CTCCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7543879	C C	CCCAGCCA others(25): Show CCCAGCCACCCACCCACCCACCCATCCATCCAT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0024 a0002c0004t0024	a0002c0004t0024g0114 a0002c0004t0024g0114	1	168	0.0060	32	c.648 others(51): Show c.648+12253_648+12254insGCCACCCACCCACCCACCCATCCATC CATCCA	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS3_chr10_104636290_105270242	104818360	T T	TCTTCCTT others(25): Show TCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02738.hp1 NA19012.hp2 HG02738.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0113 a0001c0001t0002g0103 a0001c0001t0001g0113 a0001c0001t0002g0103	2	134	0.0149	32	c.628 others(51): Show c.628-24419_628-24388dupCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTC	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORL1_chr11_121447314_121638763	121547417	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03098.hp2 HG03516.hp1 others(1): Show HG02738.hp1 HG03098.hp2 HG03516.hp1 NA19012.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0007 a0003c0027 others(1): Show a0001c0002 a0002c0007 a0003c0027 a0003c0071	a0001c0002t0001 a0002c0007t0017 a0003c0027t0005 others(1): Show a0001c0002t0001 a0002c0007t0017 a0003c0027t0005 a0003c0071t0014	a0001c0002t0001g0139 a0002c0007t0017g0122 a0003c0027t0005g0173 others(1): Show a0001c0002t0001g0139 a0002c0007t0017g0122 a0003c0027t0005g0173 a0003c0071t0014g0146	4	272	0.0147	32	c.205 others(51): Show c.2051+2016_2051+2017insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	SORL1	ENSG00000137642.13	transcript	ENST00000260197.12	protein_coding	14/47		INFO_REALIGN_3_PRIME	chr11	TogoVar

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