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
SGIP1_chr1_66529153_66756139	66659950	A A	AAGAAAAA others(25): Show AAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp1 HG02056.hp1 others(1): Show HG00642.hp1 HG00733.hp1 HG02056.hp1 NA18983.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0013 a0002c0002t0003 a0002c0002t0013	a0002c0002t0003g0239 a0002c0002t0003g0268 a0002c0002t0003g0279 others(1): Show a0002c0002t0003g0239 a0002c0002t0003g0268 a0002c0002t0003g0279 a0002c0002t0013g0241	4	302	0.0133	32	c.460 others(47): Show c.460-562_460-561insGAAAAAGAAAGAAAGAAAGAAAGAAAGAAA GA	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGIP1_chr1_66529153_66756139	66660011	A A	AAGGAAAG others(25): Show AAGGAAAGAAAGAAAGAAAGAAAGACAGGAAGG	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0038 a0002c0002t0038	a0002c0002t0038g0269 a0002c0002t0038g0269	1	302	0.0033	32	c.460 others(47): Show c.460-502_460-501insAGGAAAGAAAGAAAGAAAGAAAGACAGGAA GG	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	7/24			chr1	TogoVar
SGIP1_chr1_66529153_66756139	66660016	C C	CAGGAAGG others(25): Show CAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03669.hp1 NA18956.hp2 HG02896.hp1 HG03669.hp1 NA18956.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0046 a0002c0003t0003 a0002c0003t0005 a0001c0001t0046 a0002c0003t0003 a0002c0003t0005	a0001c0001t0046g0072 a0002c0003t0003g0150 a0002c0003t0005g0136 a0001c0001t0046g0072 a0002c0003t0003g0150 a0002c0003t0005g0136	3	302	0.0099	32	c.460 others(47): Show c.460-472_460-471insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AA	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGK1_chr6_134164256_134323112	134232413	G G	GAAAAGAA others(25): Show GAAAAGAAAGAAGAGAGAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	250	0.0040	32	c.286 others(51): Show c.286-24983_286-24982insTTCTCTCTCTCTCTCTCTCTCTTCTT TCTTTT	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	2/13			chr6	TogoVar
SGK3_chr8_66707781_66867022	66726801	T T	TAAAAAAA others(25): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02818.hp2 HG02559.hp1 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0013 a0001c0002t0003g0019 a0001c0002t0003g0013 a0001c0002t0003g0019	2	142	0.0141	32	c.-12 others(53): Show c.-122+13990_-122+13991insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	SGK3	ENSG00000104205.16	transcript	ENST00000521198.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
SGMS1_chr10_50300600_50628956	50574963	G G	GTATATAT others(25): Show GTATATATATATATATGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0238 a0001c0001t0003g0238	1	312	0.0032	32	c.-58 others(53): Show c.-589+15189_-589+15190insTATATATATATATACACATATATA TATATATA	SGMS1	ENSG00000198964.14	transcript	ENST00000361781.7	protein_coding	2/10			chr10	TogoVar
SGMS2_chr4_107819932_107920047	107902289	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0237 a0001c0002t0023g0237	1	270	0.0037	32	c.574 others(47): Show c.574-932_574-931insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	SGMS2	ENSG00000164023.15	transcript	ENST00000690982.1	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
SGPP2_chr2_222419543_222567621	222422285	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG04204.hp2 NA19003.hp1 HG03516.hp1 HG04204.hp2 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0026 a0001c0001t0041 a0001c0001t0007 a0001c0001t0026 a0001c0001t0041	a0001c0001t0007g0115 a0001c0001t0026g0065 a0001c0001t0041g0130 a0001c0001t0007g0115 a0001c0001t0026g0065 a0001c0001t0041g0130	3	272	0.0110	32	c.-23 others(43): Show c.-2318_-2317insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SGPP2	ENSG00000163082.10	transcript	ENST00000321276.8	protein_coding		2257		chr2	TogoVar
SGSM1_chr22_24801211_24932578	24900385	T T	TTCTTTCT others(25): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0003 a0003	a0003c0021 a0003c0021	a0003c0021t0044 a0003c0021t0044	a0003c0021t0044g0172 a0003c0021t0044g0172	1	338	0.0030	32	c.261 others(51): Show c.2611-1425_2611-1424insTTCTTTCTGTCTTTCTTTCTTTCTTT CTTTCT	SGSM1	ENSG00000167037.19	transcript	ENST00000400358.9	protein_coding	19/24		INFO_REALIGN_3_PRIME	chr22	TogoVar
SGSM2_chr17_2332501_2386054	2338774	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18979.hp2 NA19063.hp1 others(1): Show NA18970.hp2 NA18979.hp2 NA19063.hp1 NA19072.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0011 a0001c0001 a0004c0011	a0001c0001t0001 a0001c0001t0002 a0004c0011t0001 a0001c0001t0001 a0001c0001t0002 a0004c0011t0001	a0001c0001t0001g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 others(1): Show a0001c0001t0001g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0004c0011t0001g0155	4	422	0.0095	32	c.57+ others(47): Show c.57+1044_57+1045insTATATATATATATATATATATATATATATA TA	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SH2D1B_chr1_162390268_162417136	162416424	A A	AAGAAAAA others(25): Show AAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 NA18956.hp2 NA18967.hp2 others(7): Show HG03041.hp1 NA18956.hp2 NA18967.hp2 NA18993.hp2 NA19010.hp2 NA19057.hp2 NA19064.hp2 NA19068.hp2 NA19083.hp2 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0031 a0001c0002t0002g0119 others(2): Show a0001c0002t0002g0001 a0001c0002t0002g0031 a0001c0002t0002g0119 a0001c0002t0002g0133 a0001c0002t0002g0179	10	424	0.0236	32	c.-44 others(43): Show c.-4409_-4408insCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCT	SH2D1B	ENSG00000198574.6	transcript	ENST00000367929.3	protein_coding		4289		chr1	TogoVar
SH2D2A_chr1_156801243_156821848	156817047	T T	TTCTCTCT others(25): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	32	c.-34 others(41): Show c.-340_-339insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	SH2D2A	ENSG00000027869.12	transcript	ENST00000368199.8	protein_coding		200		chr1	TogoVar
SH2D4B_chr10_80532902_80651560	80533379	C C	CTCCTCTC others(25): Show CTCCTCTCCCTCTCCCTCTCCCTCTCCCCACGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0018 a0018	a0018c0029 a0018c0029	a0018c0029t0004 a0018c0029t0004	a0018c0029t0004g0032 a0018c0029t0004g0032	1	322	0.0031	32	c.-49 others(43): Show c.-4953_-4952insTCCTCTCCCTCTCCCTCTCCCTCTCCCCACGG	SH2D4B	ENSG00000178217.15	transcript	ENST00000646907.2	protein_coding		4522		chr10	TogoVar
SH2D7_chr15_78087561_78109362	78089517	G G	GTTTTTTT others(25): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	432	0.0023	32	c.-30 others(43): Show c.-3068_-3067insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SH2D7	ENSG00000183476.13	transcript	ENST00000328828.6	protein_coding		3043		chr15	TogoVar
SH3BGR_chr21_39446970_39520504	39499255	C C	CATCTATC others(25): Show CATCTATCTATCTATCTATCTATCTATCTATCT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01261.hp2 HG01978.hp2 others(10): Show HG00408.hp2 HG01261.hp2 HG01978.hp2 HG03654.hp2 HG03704.hp2 HG04184.hp2 NA18950.hp2 NA18960.hp2 NA18981.hp2 NA19005.hp1 NA19006.hp2 NA19077.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0048 a0001c0001t0001g0056 others(9): Show a0001c0001t0001g0006 a0001c0001t0001g0048 a0001c0001t0001g0056 a0001c0001t0001g0069 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0111 a0001c0001t0001g0117 a0001c0001t0001g0131 a0001c0001t0001g0140 a0001c0001t0001g0217	13	302	0.0431	32	c.313 others(47): Show c.313-564_313-563insATCTATCTATCTATCTATCTATCTATCTAT CT	SH3BGR	ENSG00000185437.16	transcript	ENST00000333634.10	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr21	TogoVar
SH3BP2_chr4_2788085_2846096	2802634	G G	GGTGTGTG others(25): Show GGTGTGTGTATATATATATGTATATGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0155 a0001c0002t0002g0155	1	378	0.0027	32	c.-5+ others(47): Show c.-5+9521_-5+9552dupGTGTGTGTGTGTGTGTATATATATATGTAT AT	SH3BP2	ENSG00000087266.17	transcript	ENST00000503393.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
SH3BP4_chr2_234947017_235060714	235038241	T T	TATATATT others(25): Show TATATATTATATATAATATATATATTATATATA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0188 a0002c0001t0002g0188	1	348	0.0029	32	c.119 others(49): Show c.119-2641_119-2640insTATATATAATATATATATTATATATAAT ATAT	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3BP5_chr3_15249353_15337586	15265512	T T	TCACACAC others(25): Show TCACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	376	0.0027	32	c.496 others(49): Show c.496-3255_496-3224dupTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTG	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding	4/8			chr3	TogoVar
SH3BP5_chr3_15249353_15337586	15272527	C C	CTAAAGAC others(25): Show CTAAAGACATTACAAAACAGAGTGCCCGTAGGA	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0091 a0001c0001t0003g0091	1	376	0.0027	32	c.331 others(49): Show c.331-2651_331-2650insTCCTACGGGCACTCTGTTTTGTAATGTC TTTA	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding	3/8			chr3	TogoVar
SH3BP5_chr3_15249353_15337586	15272527	C C	CTAAAGAC others(25): Show CTAAAGACATTACAAAACAGAGTGCCTGTAGGA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp2 HG02056.hp2 others(16): Show HG00280.hp2 HG00544.hp2 HG02056.hp2 HG02080.hp2 HG02165.hp1 HG02622.hp1 HG03471.hp1 HG03831.hp2 HG04115.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18951.hp1 NA18978.hp2 NA18985.hp1 NA18985.hp2 NA19005.hp1 NA19084.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0024 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0024 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0008t0001	a0001c0001t0001g0172 a0001c0001t0001g0241 a0001c0001t0001g0245 others(16): Show a0001c0001t0001g0172 a0001c0001t0001g0241 a0001c0001t0001g0245 a0001c0001t0001g0285 a0001c0001t0001g0310 a0001c0001t0002g0009 a0001c0001t0002g0040 a0001c0001t0002g0044 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0024g0192 a0001c0002t0001g0215 a0001c0002t0001g0275 a0001c0002t0001g0289 a0001c0002t0001g0305 a0001c0002t0002g0050 a0001c0002t0003g0102 a0001c0008t0001g0191	19	376	0.0505	32	c.331 others(49): Show c.331-2682_331-2651dupTCCTACAGGCACTCTGTTTTGTAATGTC TTTA	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding	3/8			chr3	TogoVar
SH3BP5_chr3_15249353_15337586	15272553	T T	TGTAGGAT others(25): Show TGTAGGATAAAGACATTACAAAACAGAGTGCCC	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0264 a0005c0011t0001g0264	1	376	0.0027	32	c.331 others(49): Show c.331-2677_331-2676insGGGCACTCTGTTTTGTAATGTCTTTATC CTAC	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding	3/8			chr3	TogoVar
SH3BP5_chr3_15249353_15337586	15272632	T T	TATTACAA others(25): Show TATTACAAAACAGAGTGCCTGTAGGATAAAGAC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01496.hp1 HG02738.hp1 others(3): Show HG01256.hp2 HG01496.hp1 HG02738.hp1 HG03491.hp1 HG03492.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0001 a0001c0001t0001g0176 a0001c0002t0001g0202 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0176 a0001c0002t0001g0202 a0001c0002t0001g0239 a0001c0002t0002g0086	6	376	0.0160	32	c.331 others(49): Show c.331-2787_331-2756dupGTCTTTATCCTACAGGCACTCTGTTTTG TAAT	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding	3/8			chr3	TogoVar
SH3D21_chr1_36301368_36326347	36313972	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0136 a0001c0002t0001g0136	1	376	0.0027	32	c.769 others(49): Show c.769+4402_769+4403insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	SH3D21	ENSG00000214193.11	transcript	ENST00000453908.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SH3D21_chr1_36301368_36326347	36325108	T T	TTCCAAAC others(25): Show TTCCAAACACCCTACCCAGCTTACAATCTCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0015 a0001c0002t0001g0015	1	376	0.0027	32	c.39 others(43): Show c.3981_*3982insTCCAAACACCCTACCCAGCTTACAATCTCTCA	SH3D21	ENSG00000214193.11	transcript	ENST00000453908.8	protein_coding		3762		chr1	TogoVar
SH3GL2_chr9_17574066_17802124	17738641	T T	TATATATA others(25): Show TATATATATATATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	260	0.0039	32	c.46- others(47): Show c.46-8424_46-8423insTATATATATATATATATAGAGAGAGAGAGA GA	SH3GL2	ENSG00000107295.10	transcript	ENST00000380607.5	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
SH3GLB2_chr9_129002036_129033331	129025611	G G	GAGGAAGG others(25): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG00642.hp2 others(45): Show HG00621.hp1 HG00621.hp2 HG00642.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01891.hp2 HG01928.hp2 HG02015.hp1 HG02040.hp2 HG02083.hp2 HG02129.hp2 HG02155.hp2 HG02273.hp2 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02896.hp1 HG03017.hp1 HG03017.hp2 HG03579.hp2 HG03669.hp2 NA18943.hp2 NA18945.hp1 NA18950.hp2 NA18954.hp2 NA18955.hp2 NA18964.hp2 NA18971.hp1 NA18975.hp1 NA18978.hp2 NA18979.hp1 NA18983.hp1 NA18984.hp1 NA18999.hp1 NA19000.hp1 NA19004.hp2 NA19007.hp2 NA19009.hp2 NA19043.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19077.hp1 NA19087.hp2 NA19240.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0007 others(2): Show a0001c0001 a0001c0002 a0001c0007 a0002c0003 a0003c0008	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(10): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0028 a0001c0001t0029 a0001c0002t0002 a0001c0002t0003 a0001c0002t0017 a0001c0007t0003 a0002c0003t0003 a0003c0008t0002	a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0075 others(42): Show a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0075 a0001c0001t0003g0014 a0001c0001t0003g0033 a0001c0001t0003g0316 a0001c0001t0003g0318 a0001c0001t0003g0319 a0001c0001t0003g0321 a0001c0001t0003g0323 a0001c0001t0003g0324 a0001c0001t0003g0326 a0001c0001t0003g0327 a0001c0001t0003g0328 a0001c0001t0008g0284 a0001c0001t0009g0347 a0001c0001t0009g0348 a0001c0001t0014g0035 a0001c0001t0028g0315 a0001c0001t0029g0351 a0001c0002t0002g0038 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0107 a0001c0002t0003g0313 a0001c0002t0017g0065 a0001c0007t0003g0314 a0002c0003t0003g0317 a0002c0003t0003g0320 a0002c0003t0003g0322 a0002c0003t0003g0325 a0002c0003t0003g0329 a0002c0003t0003g0330 a0003c0008t0002g0037	48	436	0.1101	32	c.63+ others(47): Show c.63+2480_63+2481insTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CT	SH3GLB2	ENSG00000148341.18	transcript	ENST00000372564.8	protein_coding	1/10			chr9	TogoVar
SH3KBP1_chrX_19528977_19892600	19531524	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02647.hp1 HG03239.hp2 HG02622.hp2 HG02647.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0004g0032 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0004g0032	3	204	0.0147	32	c.48 others(43): Show c.4892_*4893insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding		2452		chrX	TogoVar
SH3PXD2A_chr10_103589027_103860576	103596663	A A	ACACACAC others(25): Show ACACACACACACACACACACACACACACACTCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0062 a0001c0003t0062	a0001c0003t0062g0012 a0001c0003t0062g0012	1	250	0.0040	32	c.51 others(43): Show c.5152_*5153insAGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	15/15	5152		chr10	TogoVar
SH3PXD2A_chr10_103589027_103860576	103801542	T T	TACACACA others(25): Show TACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG01109.hp1 others(14): Show HG00408.hp1 HG00423.hp1 HG01109.hp1 HG01243.hp2 HG02055.hp1 HG02056.hp1 HG02258.hp1 HG02717.hp1 HG02896.hp2 HG03130.hp2 HG03516.hp2 NA18522.hp2 NA18945.hp2 NA19057.hp1 NA19062.hp1 NA19070.hp1 NA19091.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0009	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0002c0006 a0004c0011 a0009c0018	a0001c0001t0005 a0001c0001t0006 a0001c0001t0017 others(10): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0017 a0001c0001t0023 a0001c0002t0009 a0001c0003t0011 a0001c0003t0032 a0001c0003t0033 a0001c0009t0039 a0002c0006t0018 a0002c0006t0059 a0004c0011t0114 a0009c0018t0008	a0001c0001t0005g0218 a0001c0001t0005g0224 a0001c0001t0005g0229 others(14): Show a0001c0001t0005g0218 a0001c0001t0005g0224 a0001c0001t0005g0229 a0001c0001t0006g0238 a0001c0001t0006g0242 a0001c0001t0017g0031 a0001c0001t0023g0228 a0001c0002t0009g0225 a0001c0003t0011g0035 a0001c0003t0032g0002 a0001c0003t0033g0085 a0001c0009t0039g0112 a0002c0006t0018g0078 a0002c0006t0018g0080 a0002c0006t0059g0081 a0004c0011t0114g0107 a0009c0018t0008g0155	17	250	0.0680	32	c.73- others(45): Show c.73-181_73-180insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	1/14			chr10	TogoVar
SH3PXD2B_chr5_172328499_172459525	172368468	T T	TTATATAT others(25): Show TTATATATATATATAAAATATATATATATTATA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0188 a0001c0003t0015g0188	1	280	0.0036	32	c.427 others(49): Show c.427+5290_427+5321dupTATAATATATATATATTTTATATATATA TATA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	6/12			chr5	TogoVar
SH3PXD2B_chr5_172328499_172459525	172368496	T T	TTATATAT others(25): Show TTATATATATATATATAAAATATATATATATTA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0248 a0001c0001t0003g0248	1	280	0.0036	32	c.427 others(49): Show c.427+5262_427+5293dupTAATATATATATATTTTATATATATATA TATA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	6/12			chr5	TogoVar
SH3RF3_chr2_109124205_109509634	109249647	C C	CTCTTTCT others(25): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA19240.hp2 HG02451.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0029 a0001c0003t0036 a0001c0001t0029 a0001c0003t0036	a0001c0001t0029g0057 a0001c0003t0036g0056 a0001c0001t0029g0057 a0001c0003t0036g0056	2	172	0.0116	32	c.574 others(51): Show c.574-98007_574-98006insTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTT	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3RF3_chr2_109124205_109509634	109458572	C C	CAGAGAGA others(25): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG03239.hp2 HG04184.hp2 HG01169.hp1 HG03239.hp2 HG04184.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0009 a0002c0002t0001 a0001c0001t0001 a0001c0001t0009 a0002c0002t0001	a0001c0001t0001g0025 a0001c0001t0009g0143 a0002c0002t0001g0162 a0001c0001t0001g0025 a0001c0001t0009g0143 a0002c0002t0001g0162	3	172	0.0174	32	c.214 others(51): Show c.2148+9112_2148+9113insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGA	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SHANK1_chr19_50654255_50724802	50692456	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02735.hp1 NA18522.hp2 others(1): Show HG01081.hp1 HG02735.hp1 NA18522.hp2 NA18971.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0004 a0001c0003t0023 a0002c0001t0002 a0001c0003t0004 a0001c0003t0023 a0002c0001t0002	a0001c0003t0004g0097 a0001c0003t0023g0078 a0002c0001t0002g0211 others(1): Show a0001c0003t0004g0097 a0001c0003t0023g0078 a0002c0001t0002g0211 a0002c0001t0002g0275	4	316	0.0127	32	c.196 others(51): Show c.1965-3178_1965-3177insATATATATATATATATATATATATAT ATATAT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	15/23			chr19	TogoVar
SHCBP1L_chr1_182894865_182958166	182924797	A A	AAAGAGAA others(25): Show AAAGAGAAAGAAAGAGAGAGAAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0060 a0003c0006t0001g0060	1	302	0.0033	32	c.118 others(51): Show c.1182+4849_1182+4850insCCTTCCTTCCTTTCTCTCTCTTTCTT TCTCTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182924935	G G	GAAGAAAG others(25): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA18962.hp1 NA18991.hp2 others(1): Show HG03209.hp2 NA18962.hp1 NA18991.hp2 NA19063.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0167 a0004c0004t0001g0120 a0004c0004t0001g0141 others(1): Show a0001c0001t0001g0167 a0004c0004t0001g0120 a0004c0004t0001g0141 a0004c0004t0001g0152	4	302	0.0133	32	c.118 others(51): Show c.1182+4680_1182+4711dupTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182924935	G G	GAAGGAAG others(25): Show GAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01981.hp1 NA18956.hp2 HG01168.hp2 HG01981.hp1 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0203 a0001c0001t0001g0215 a0001c0001t0001g0196 a0001c0001t0001g0203 a0001c0001t0001g0215	3	302	0.0099	32	c.118 others(51): Show c.1182+4711_1182+4712insTCTTTCTTTCTTTCTTTCTTTCTTTC TTCCTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHISA9_chr16_12896598_13245416	12970406	T T	TATATATA others(25): Show TATATATATACATATATGTATATATATATATAC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04228.hp2 HG04204.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0092 a0001c0001t0001 a0001c0001t0092	a0001c0001t0001g0091 a0001c0001t0092g0144 a0001c0001t0001g0091 a0001c0001t0092g0144	2	214	0.0094	32	c.691 others(51): Show c.691+53600_691+53601insCATATATGTATATATATATATACATA TATATA	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	12970408	T T	TATATATA others(25): Show TATATATACATATATGTATATATATATGCACAC	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0096 a0001c0001t0003g0096	1	214	0.0047	32	c.691 others(51): Show c.691+53600_691+53601insCATATATGTATATATATATGCACACA TATATA	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13015853	C C	CCTTTCTT others(25): Show CCTTTCTTTGTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0084 a0001c0001t0084	a0001c0001t0084g0151 a0001c0001t0084g0151	1	214	0.0047	32	c.691 others(51): Show c.691+99046_691+99047insGTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13071557	T T	TTTCCTTC others(25): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0076 a0001c0001t0066g0076	1	214	0.0047	32	c.692 others(53): Show c.692-131824_692-131823insTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCT	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13071575	T T	TCCTTCCT others(25): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0118 a0001c0001t0055g0118	1	214	0.0047	32	c.692 others(53): Show c.692-131816_692-131815insTCCTTCCTTCCTTCCTTCCTTCCT TCCTCCCT	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISAL1_chr22_44238665_44317951	44241646	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0006 a0001c0015t0006	a0001c0015t0006g0007 a0001c0015t0006g0007	1	380	0.0026	32	c.80 others(43): Show c.8038_*8039insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding		2018		chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44261077	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01175.hp2 HG02027.hp2 others(2): Show HG00609.hp2 HG01175.hp2 HG02027.hp2 HG02074.hp1 HG02647.hp2	a0001 a0001	a0001c0031 a0001c0050 a0001c0108 others(2): Show a0001c0031 a0001c0050 a0001c0108 a0001c0118 a0001c0169	a0001c0031t0039 a0001c0050t0001 a0001c0108t0049 others(2): Show a0001c0031t0039 a0001c0050t0001 a0001c0108t0049 a0001c0118t0031 a0001c0169t0002	a0001c0031t0039g0012 a0001c0050t0001g0315 a0001c0108t0049g0047 others(2): Show a0001c0031t0039g0012 a0001c0050t0001g0315 a0001c0108t0049g0047 a0001c0118t0031g0339 a0001c0169t0002g0080	5	380	0.0132	32	c.600 others(51): Show c.600-11393_600-11392insTATATATATATATATATATATATATA TATATA	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	4/4			chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44284897	G G	GCCTGCCT others(25): Show GCCTGCCTGCCTGCCTGCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02083.hp2 HG02145.hp2 others(3): Show HG00639.hp1 HG02083.hp2 HG02145.hp2 HG06807.hp1 NA18950.hp1 NA18950.hp2	a0001 a0001	a0001c0034 a0001c0035 a0001c0084 others(3): Show a0001c0034 a0001c0035 a0001c0084 a0001c0085 a0001c0343 a0001c0344	a0001c0034t0051 a0001c0035t0042 a0001c0084t0006 others(3): Show a0001c0034t0051 a0001c0035t0042 a0001c0084t0006 a0001c0085t0013 a0001c0343t0097 a0001c0344t0015	a0001c0034t0051g0127 a0001c0035t0042g0033 a0001c0084t0006g0078 others(3): Show a0001c0034t0051g0127 a0001c0035t0042g0033 a0001c0084t0006g0078 a0001c0085t0013g0056 a0001c0343t0097g0331 a0001c0344t0015g0318	6	380	0.0158	32	c.599 others(47): Show c.599+530_599+531insAAGGAAGGAAGGAAGGCAGGCAGGCAGGCA GG	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	4/4			chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44284897	G G	GCCTGCCT others(25): Show GCCTGCCTGCCTGCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02300.hp1 HG02647.hp2 others(5): Show HG02071.hp1 HG02300.hp1 HG02647.hp2 HG03688.hp1 NA19003.hp2 NA19030.hp2 NA19082.hp1 NA19084.hp2	a0001 a0001	a0001c0031 a0001c0058 a0001c0059 others(5): Show a0001c0031 a0001c0058 a0001c0059 a0001c0060 a0001c0061 a0001c0062 a0001c0063 a0001c0064	a0001c0031t0039 a0001c0058t0001 a0001c0059t0027 others(5): Show a0001c0031t0039 a0001c0058t0001 a0001c0059t0027 a0001c0060t0001 a0001c0061t0007 a0001c0062t0002 a0001c0063t0001 a0001c0064t0062	a0001c0031t0039g0012 a0001c0058t0001g0116 a0001c0059t0027g0129 others(5): Show a0001c0031t0039g0012 a0001c0058t0001g0116 a0001c0059t0027g0129 a0001c0060t0001g0234 a0001c0061t0007g0025 a0001c0062t0002g0292 a0001c0063t0001g0143 a0001c0064t0062g0259	8	380	0.0211	32	c.599 others(47): Show c.599+530_599+531insAAGGAAGGAAGGAAGGAAGGCAGGCAGGCA GG	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	4/4			chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44284897	G G	GCCTGCCT others(25): Show GCCTGCCTGCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA19240.hp1 HG02809.hp2 NA19240.hp1	a0001 a0001	a0001c0028 a0001c0049 a0001c0028 a0001c0049	a0001c0028t0034 a0001c0049t0074 a0001c0028t0034 a0001c0049t0074	a0001c0028t0034g0306 a0001c0049t0074g0137 a0001c0028t0034g0306 a0001c0049t0074g0137	2	380	0.0053	32	c.599 others(47): Show c.599+530_599+531insAAGGAAGGAAGGAAGGAAGGAAGGCAGGCA GG	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	4/4			chr22	TogoVar
SHLD1_chr20_5745401_5869395	5852415	C C	CCCTTCCT others(25): Show CCCTTCCTTCCTACCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02486.hp1 HG02615.hp1 others(1): Show HG01243.hp2 HG02486.hp1 HG02615.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0005 a0001c0001t0001 a0001c0002t0005	a0001c0001t0001g0005 a0001c0001t0001g0074 a0001c0001t0001g0257 others(1): Show a0001c0001t0001g0005 a0001c0001t0001g0074 a0001c0001t0001g0257 a0001c0002t0005g0015	4	328	0.0122	32	c.179 others(51): Show c.179-10598_179-10597insACCTTCCTTCCTTCCTTCCTTCCTTC CTTCCT	SHLD1	ENSG00000171984.15	transcript	ENST00000303142.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SHOC1_chr9_111681171_111799937	111729195	A A	AACCTCCA others(25): Show AACCTCCAACTCCTGGGCCCAAGCAGTCCTCCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00642.hp2 others(38): Show HG00140.hp1 HG00408.hp2 HG00642.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp1 HG01256.hp2 HG01261.hp1 HG01346.hp1 HG01891.hp2 HG01928.hp2 HG01952.hp1 HG01975.hp1 HG01993.hp2 HG02055.hp1 HG02148.hp2 HG02273.hp1 HG02280.hp1 HG02300.hp1 HG02622.hp2 HG02717.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02922.hp2 HG03098.hp2 HG03195.hp2 HG03239.hp1 HG03486.hp2 HG03669.hp2 HG03834.hp1 NA18998.hp2 NA19043.hp1 NA20129.hp2 NA20905.hp2 NA21309.hp2	a0003 a0008 a0012 others(1): Show a0003 a0008 a0012 a0017	a0003c0003 a0008c0009 a0012c0016 others(1): Show a0003c0003 a0008c0009 a0012c0016 a0017c0030	a0003c0003t0002 a0008c0009t0001 a0012c0016t0002 others(1): Show a0003c0003t0002 a0008c0009t0001 a0012c0016t0002 a0017c0030t0002	a0003c0003t0002g0011 a0003c0003t0002g0019 a0003c0003t0002g0077 others(37): Show a0003c0003t0002g0011 a0003c0003t0002g0019 a0003c0003t0002g0077 a0003c0003t0002g0082 a0003c0003t0002g0083 a0003c0003t0002g0085 a0003c0003t0002g0086 a0003c0003t0002g0087 a0003c0003t0002g0088 a0003c0003t0002g0090 a0003c0003t0002g0091 a0003c0003t0002g0092 a0003c0003t0002g0093 a0003c0003t0002g0094 a0003c0003t0002g0095 a0003c0003t0002g0096 a0003c0003t0002g0097 a0003c0003t0002g0098 a0003c0003t0002g0099 a0003c0003t0002g0105 a0003c0003t0002g0106 a0003c0003t0002g0108 a0003c0003t0002g0111 a0003c0003t0002g0222 a0003c0003t0002g0223 a0003c0003t0002g0225 a0003c0003t0002g0226 a0003c0003t0002g0227 a0008c0009t0001g0084 a0008c0009t0001g0100 a0008c0009t0001g0101 a0008c0009t0001g0102 a0008c0009t0001g0103 a0008c0009t0001g0104 a0008c0009t0001g0107 a0008c0009t0001g0109 a0008c0009t0001g0110 a0008c0009t0001g0224 a0012c0016t0002g0081 a0017c0030t0002g0089	41	296	0.1385	32	c.141 others(51): Show c.1418-1178_1418-1147dupGGGAGGACTGCTTGGGCCCAGGAGTT GGAGGT	SHOC1	ENSG00000165181.17	transcript	ENST00000682961.1	protein_coding	12/27			chr9	TogoVar
SHOC1_chr9_111681171_111799937	111781750	A A	AAATAAAT others(25): Show AAATAAATAAATAAATAAATTAATTAATTAATT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0104 a0008c0009t0001g0104	1	296	0.0034	32	c.170 others(47): Show c.170-734_170-733insAATTAATTAATTAATTTATTTATTTATTTA TT	SHOC1	ENSG00000165181.17	transcript	ENST00000682961.1	protein_coding	3/27			chr9	TogoVar

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