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
RIPOR3_chr20_50581108_50696542	50666190	T T	TTTTCTTT others(96): Show TTTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT CTTCTCCTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCT CTTC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01167.hp2 HG01256.hp1 others(8): Show HG00639.hp2 HG01167.hp2 HG01256.hp1 HG01433.hp1 HG01975.hp2 HG02129.hp2 HG03239.hp2 HG03834.hp1 NA18960.hp2 NA18964.hp2 NA19055.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0171 a0001c0001t0001g0178 a0001c0001t0001g0188 others(8): Show a0001c0001t0001g0171 a0001c0001t0001g0178 a0001c0001t0001g0188 a0001c0001t0002g0182 a0001c0001t0002g0229 a0001c0003t0002g0123 a0002c0002t0001g0131 a0002c0002t0001g0141 a0002c0002t0001g0177 a0002c0002t0002g0140 a0002c0002t0002g0230	11	280	0.0393	103	c.3+2 others(118): Show c.3+24935_3+24936insGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAGGAGAAGAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAGAAA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RIPOR3_chr20_50581108_50696542	50666190	T T	TTTTCTTT others(96): Show TTTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTCTTCTCCTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCT CTTC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG02040.hp2 others(7): Show HG00423.hp2 HG00544.hp2 HG02040.hp2 HG03704.hp2 NA18945.hp1 NA18945.hp2 NA18966.hp1 NA18969.hp2 NA18983.hp2 NA18986.hp2	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0010 a0016	a0001c0001 a0002c0002 a0006c0013 others(2): Show a0001c0001 a0002c0002 a0006c0013 a0010c0031 a0016c0032	a0001c0001t0001 a0002c0002t0002 a0006c0013t0001 others(2): Show a0001c0001t0001 a0002c0002t0002 a0006c0013t0001 a0010c0031t0001 a0016c0032t0001	a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0138 others(7): Show a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0151 a0001c0001t0001g0212 a0001c0001t0001g0222 a0002c0002t0002g0173 a0006c0013t0001g0183 a0010c0031t0001g0226 a0016c0032t0001g0197	10	280	0.0357	103	c.3+2 others(118): Show c.3+24935_3+24936insGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAGGAGAAGAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAGAAA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RIPOR3_chr20_50581108_50696542	50666190	T T	TTTTCTTT others(96): Show TTTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTCTTCTCCTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCT CTTC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	280	0.0036	103	c.3+2 others(118): Show c.3+24935_3+24936insGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAGGAGAAGAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAGAAA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RPH3AL_chr17_207389_357807	242302	A A	ACCTTCCT others(96): Show ACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGAC TACCTTCCTCTATTGACTACCTTCCTCTATTGATTACCTTCCTCTATTGA TTAC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0057 a0001c0002t0001g0057	1	133	0.0075	103	c.613 others(120): Show c.613+4808_613+4809insGTAATCAATAGAGGAAGGTAATCAATAG AGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATA GAGGAAGGTAGTCAATAGAGGAAGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	243265	C C	CCTTCCTC others(96): Show CCTTCCTCTACTGATTGCCCCTCCTCTACTGATTACCCTTCCTTTATTGA TTACCCTCCGCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTG ACTA	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0005 a0001c0001t0012g0005	1	133	0.0075	103	c.613 others(120): Show c.613+3845_613+3846insTAGTCAATAGAGGAAGGTAGTCAATAGA GGAAGGTAGTCAATAGCGGAGGGTAATCAATAAAGGAAGGGTAATCAGTA GAGGAGGGGCAATCAGTAGAGGAAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RSPH10B2_chr7_6749103_6803765	6797863	A A	ATACACAC others(96): Show ATACACACACACACACACACACACACACACACACACACATATACATACAC ACACACACACACATATATATACACACACATATATATATACACACACACAC ACAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01978.hp2 HG02015.hp1 others(11): Show HG01884.hp2 HG01978.hp2 HG02015.hp1 HG02071.hp1 HG02135.hp2 HG02148.hp1 HG02602.hp1 HG02735.hp2 HG04184.hp1 HG04184.hp2 NA18747.hp2 NA18961.hp1 NA18965.hp1 NA19011.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0002c0005 a0002c0029 others(1): Show a0002c0002 a0002c0005 a0002c0029 a0003c0003	a0002c0002t0001 a0002c0005t0001 a0002c0029t0004 others(1): Show a0002c0002t0001 a0002c0005t0001 a0002c0029t0004 a0003c0003t0001	a0002c0002t0001g0011 a0002c0002t0001g0041 a0002c0002t0001g0050 others(11): Show a0002c0002t0001g0011 a0002c0002t0001g0041 a0002c0002t0001g0050 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0074 a0002c0002t0001g0080 a0002c0005t0001g0069 a0002c0029t0004g0095 a0003c0003t0001g0008 a0003c0003t0001g0010 a0003c0003t0001g0017 a0003c0003t0001g0023 a0003c0003t0001g0027	14	108	0.1296	103	c.243 others(120): Show c.2433-500_2433-499insTACACACACACACACACACACACACACA CACACACACATATACATACACACACACACACACATATATATACACACACA TATATATATACACACACACACACAT	RSPH10B2	ENSG00000169402.16	transcript	ENST00000404077.6	protein_coding	20/20			chr7	TogoVar
RTN1_chr14_59590983_59875776	59750270	C C	CTATAATA others(96): Show CTATAATATATTATATATATATCTATAATATATATATTATATCTATAATA TATATATTATAGATATAAATATAATATATATATCTATAATATATATATTA TAGA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG03195.hp2 HG03540.hp1 others(3): Show HG01358.hp1 HG03195.hp2 HG03540.hp1 NA19030.hp2 NA19043.hp2 NA19240.hp1	a0002 a0007 a0002 a0007	a0002c0002 a0007c0009 a0002c0002 a0007c0009	a0002c0002t0001 a0002c0002t0004 a0007c0009t0001 a0002c0002t0001 a0002c0002t0004 a0007c0009t0001	a0002c0002t0001g0109 a0002c0002t0001g0163 a0002c0002t0004g0029 others(3): Show a0002c0002t0001g0109 a0002c0002t0001g0163 a0002c0002t0004g0029 a0002c0002t0004g0128 a0002c0002t0004g0129 a0007c0009t0001g0171	6	172	0.0349	103	c.242 others(120): Show c.242-3790_242-3789insTCTATAATATATATATTATAGATATATA TATTATATTTATATCTATAATATATATATTATAGATATAATATATATATT ATAGATATATATATAATATATTATA	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
SCAMP1_chr5_78355617_78485739	78460816	C C	CTTTCTTT others(96): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	332	0.0030	103	c.852 others(120): Show c.852+1454_852+1455insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8			chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460820	C C	CCTTCCTT others(96): Show CCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	332	0.0030	103	c.852 others(120): Show c.852+1461_852+1462insCCTTCCTTCCTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460820	C C	CCTTCTTT others(96): Show CCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0251 a0001c0001t0035g0251	1	332	0.0030	103	c.852 others(120): Show c.852+1461_852+1462insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCD5_chr4_82624539_82803796	82712297	T T	TATATATA others(96): Show TATATATATACATATATATATATATATATACGTATATATATATACATATA TATATATATATACGTATATATATATATATATATATACACATATATATATA TATA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	210	0.0048	103	c.233 others(120): Show c.233-6885_233-6884insTATATATATATATATGTGTATATATATA TATATATATATACGTATATATATATATATATGTATATATATATACGTATA TATATATATATATATGTATATATAT	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82712297	T T	TATATATA others(96): Show TATATATATATACATATATATATATATATACGTATATATATATACATATA TATATATATATACGTATATATATATATATATATATATACATATATATATA TATA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	210	0.0048	103	c.233 others(120): Show c.233-6885_233-6884insTATATATATATATATGTATATATATATA TATATATATATACGTATATATATATATATATGTATATATATATACGTATA TATATATATATATGTATATATATAT	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4			chr4	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGGGTTG others(96): Show GGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGGGGTTG GGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGA GTGA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0004 a0008c0007t0004	a0008c0007t0004g0266 a0008c0007t0004g0266	1	290	0.0035	103	c.464 others(116): Show c.464+85_464+86insTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGG GTTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGG GTGGGGGGGTTGAGTGAGGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEMA3A_chr7_83950777_84199789	84091120	A A	AAGAAAGA others(96): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAGAGAAAGAAAGAAAGAAGGAAGGAAGGAAAGAAAGAAAGAAAG AAAG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0232 a0001c0003t0012g0232	1	276	0.0036	103	c.453 others(122): Show c.453+19349_453+19350insCTTTCTTTCTTTCTTTCTTTCCTTCC TTCCTTCTTTCTTTCTTTCTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SERAC1_chr6_158104519_158173262	158169707	G G	GTATATTG others(96): Show GTATATTGTATAATATATTGTATATTGTATAATATATTGTATATTGTATA TTAATAATATATTGTATATTATATGTAATATATTGTATATTATATATTAT ATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	366	0.0027	103	c.-15 others(114): Show c.-1570_-1569insTTATATAATATATAATATACAATATATTACATAT AATATACAATATATTATTAATATACAATATACAATATATTATACAATATA CAATATATTATACAATATA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1446		chr6	TogoVar
SH3TC1_chr4_8194290_8246103	8211428	T T	TCTCCCTC others(96): Show TCTCCCTCCCTCTCCACCCTCCTCACCGTTGTCTCCCTTCTCCCTCCCTC TCCCCCTCCTGGTTTCTCCCCTCTCCCTCCCTCTCCCCCTCCTGGTTTCT CCCA	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0303 a0002c0003t0002g0303	1	374	0.0027	103	c.248 others(120): Show c.248-1255_248-1254insTCCTCACCGTTGTCTCCCTTCTCCCTCC CTCTCCCCCTCCTGGTTTCTCCCCTCTCCCTCCCTCTCCCCCTCCTGGTT TCTCCCACTCCCTCCCTCTCCACCC	SH3TC1	ENSG00000125089.18	transcript	ENST00000245105.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHC2_chr19_411589_466033	434239	C C	CATAAGTG others(96): Show CATAAGTGAGTGAGGTGAGTGAGTGAGATCGTGAGTCAGTGAGATCGTGA GTCTGTGAGTGAGATCGTGAGTCTGTGAGATGGTGAGTGAGATCGTGAGT CTGA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0071 a0001c0001t0003g0071	1	212	0.0047	103	c.111 others(120): Show c.1110+469_1110+470insTCAGACTCACGATCTCACTCACCATCTC ACAGACTCACGATCTCACTCACAGACTCACGATCTCACTGACTCACGATC TCACTCACTCACCTCACTCACTTAT	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	465769	G G	GTGGGTGG others(96): Show GTGGGTGGGTGGATAGCTGGACAGATGGGTAGGTGGGTGGATGGATGAGT GGGTGGGTGGATGGTGGATGGATGTGTGGATAGATGGATGGATGGGTGGG TGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02559.hp2 HG02818.hp1 others(1): Show HG02145.hp1 HG02559.hp2 HG02818.hp1 NA19240.hp2	a0003 a0010 a0003 a0010	a0003c0008 a0010c0022 a0003c0008 a0010c0022	a0003c0008t0003 a0003c0008t0005 a0003c0008t0006 others(1): Show a0003c0008t0003 a0003c0008t0005 a0003c0008t0006 a0010c0022t0002	a0003c0008t0003g0183 a0003c0008t0005g0182 a0003c0008t0006g0185 others(1): Show a0003c0008t0003g0183 a0003c0008t0005g0182 a0003c0008t0006g0185 a0010c0022t0002g0184	4	212	0.0189	103	c.-48 others(114): Show c.-4876_-4774dupTCCACCCACCCATCCATCCATCTATCCACACATC CATCCACCATCCACCCACCCACTCATCCATCCACCCACCTACCCATCTGT CCAGCTATCCACCCACCCA	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding		4737		chr19	TogoVar
SIGIRR_chr11_400716_419999	401785	G G	GGCCCCGC others(96): Show GGCCCCGCTCACACCCGCCCCGCTCACACCCCGCCCCGCTCACCCCCGGC CCCGCTCACACCCGCCCCGCTCACACCCCGGCACCGCTCACACCCGCCCC GCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	242	0.0041	103	c.41 others(114): Show c.4110_*4111insGAGCGGGGCGGGTGTGAGCGGTGCCGGGGTGTGA GCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGGTGTGAGCG GGGCGGGTGTGAGCGGGGC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3930		chr11	TogoVar
SIMC1_chr5_176233424_176350989	176305590	G G	GCCCCCCG others(96): Show GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGT CAGC	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA19011.hp2 NA18945.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0244 a0001c0001t0001g0219 a0001c0001t0001g0244	2	360	0.0056	103	c.173 others(122): Show c.1735-8098_1735-8097insCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGGGGTCAGCCCC	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072457	G G	GCACACGG others(96): Show GCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGG GCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACA CTTA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0004 a0001c0017t0004	a0001c0017t0004g0020 a0001c0017t0004g0020	1	118	0.0085	103	c.224 others(122): Show c.2241+1175_2241+1176insTAAGTGTGATGCCCGTGTGCTGGGGG CTCACTGGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGG GGGCTGCATAAGTGTGATGCCCGTGTG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1098164	C C	CCCAACAA others(96): Show CCCAACAACCCTCTGCAAGCCCAGCCCCAACAACCCTCTGCAAGCCCAGC CCCCCTCTAACCCTCTGCACGCCCAGCCCCCCTCTAACCCTCTGCACACC CAGA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0001 a0002c0015t0001	a0002c0015t0001g0027 a0002c0015t0001g0027	1	118	0.0085	103	c.125 others(120): Show c.125-3917_125-3916insTCTGGGTGTGCAGAGGGTTAGAGGGGGG CTGGGCGTGCAGAGGGTTAGAGGGGGGCTGGGCTTGCAGAGGGTTGTTGG GGCTGGGCTTGCAGAGGGTTGTTGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC22A23_chr6_3263973_3462050	3310416	C C	CCTGTCTC others(96): Show CCTGTCTCCCAGGGAGCACCCTGTCTCCCACTCAAGCACCCTGTCTCCCA CTCGAGCACCCTGTCTCCCACTCAAGCACCCTGTCTCCCACTCGAGCACC CTGT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03195.hp2 NA18522.hp2 HG03139.hp2 HG03195.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0014 a0001c0001t0005 a0001c0001t0007 a0001c0001t0014	a0001c0001t0005g0119 a0001c0001t0007g0055 a0001c0001t0014g0195 a0001c0001t0005g0119 a0001c0001t0007g0055 a0001c0001t0014g0195	3	222	0.0135	103	c.108 others(124): Show c.1083-12199_1083-12198insACAGGGTGCTCGAGTGGGAGACAG GGTGCTTGAGTGGGAGACAGGGTGCTCGAGTGGGAGACAGGGTGCTTGAG TGGGAGACAGGGTGCTCCCTGGGAGACAG	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	4/9			chr6	TogoVar
SLC25A22_chr11_785475_803281	800459	A A	ACAGGGGT others(96): Show ACAGGGGTGGGCTGAGCAAGGAGGGCTCGGGGAGGACGGTAAGGCTCCCC CTCCAGGACAGGGAGGGCCTATCAGCATCCACGCAGTCAGGGCAATCCAG GGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02698.hp1 HG03471.hp1 HG02572.hp1 HG02698.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0004 a0001c0001t0008g0020 a0001c0001t0003g0004 a0001c0001t0008g0020	3	410	0.0073	103	c.-24 others(114): Show c.-2407_-2406insCCCCCTGGATTGCCCTGACTGCGTGGATGCTGAT AGGCCCTCCCTGTCCTGGAGGGGGAGCCTTACCGTCCTCCCCGAGCCCTC CTTGCTCAGCCCACCCCTG	SLC25A22	ENSG00000177542.11	transcript	ENST00000628067.3	protein_coding		2179		chr11	TogoVar
SLC25A22_chr11_785475_803281	800486	C C	CGGGGAGG others(96): Show CGGGGAGGACGGTAAGGCTCCCCCTCCAGGACAGGGAGGGCCTATCAGCA TCCACGCAGTCAGGGCAATCCAGGGGACAGGGGTGGGCTGAGCAAGGAGG GCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 NA18942.hp1 NA19074.hp2 HG00438.hp1 NA18942.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	3	410	0.0073	103	c.-24 others(114): Show c.-2434_-2433insATGCCCTCCTTGCTCAGCCCACCCCTGTCCCCTG GATTGCCCTGACTGCGTGGATGCTGATAGGCCCTCCCTGTCCTGGAGGGG GAGCCTTACCGTCCTCCCC	SLC25A22	ENSG00000177542.11	transcript	ENST00000628067.3	protein_coding		2206		chr11	TogoVar
SLC25A22_chr11_785475_803281	800486	C C	CGGGGAGG others(96): Show CGGGGAGGACGGTAAGGCTCCCCCTCCAGGACAGGGAGGGCCTATCAGCA TCCACGCAGTCAGGGCAATCCAGGGGGCAGGGGTGGGCTGAGCAAGGAGG GCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG02071.hp2 others(8): Show HG01070.hp2 HG01071.hp2 HG02071.hp2 HG02615.hp1 HG02683.hp2 HG02976.hp2 HG03834.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp2 NA20805.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0010 a0001c0001 a0001c0002 a0006c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0002t0004 a0006c0010t0001	a0001c0001t0001g0054 a0001c0001t0003g0004 a0001c0001t0003g0071 others(4): Show a0001c0001t0001g0054 a0001c0001t0003g0004 a0001c0001t0003g0071 a0001c0001t0010g0116 a0001c0002t0004g0005 a0001c0002t0004g0091 a0006c0010t0001g0110	11	410	0.0268	103	c.-24 others(114): Show c.-2434_-2433insATGCCCTCCTTGCTCAGCCCACCCCTGCCCCCTG GATTGCCCTGACTGCGTGGATGCTGATAGGCCCTCCCTGTCCTGGAGGGG GAGCCTTACCGTCCTCCCC	SLC25A22	ENSG00000177542.11	transcript	ENST00000628067.3	protein_coding		2206		chr11	TogoVar
SLC28A1_chr15_84879662_84950798	84928603	T T	TCTCTTTC others(96): Show TCTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0007 a0001c0004t0003g0007	1	396	0.0025	103	c.108 others(122): Show c.1083+4493_1083+4494insCTCTTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTC	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18			chr15	TogoVar
SLC41A3_chr3_126001357_126089124	126059263	G G	GAAAGAAA others(96): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAGAGAGAGAGAGAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGA	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0143 a0001c0001t0003g0143	1	370	0.0027	103	c.274 others(120): Show c.274-8214_274-8213insTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTCTTCTCTCTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTT	SLC41A3	ENSG00000114544.17	transcript	ENST00000360370.9	protein_coding	2/10			chr3	TogoVar
SLC45A1_chr1_8313114_8349165	8331274	A A	AAAAAATA others(96): Show AAAAAATATTTTTAAAAAACACTTTTAAAAAATATTTTTAAAAAACACTT TTAAAAAATATTTTTAAAAAACACTTTTAAAAAATATTTTTAAAAAACAC TTTT	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0308 a0001c0005t0001g0308	1	388	0.0026	103	c.144 others(120): Show c.1443+344_1443+446dupTATTTTTAAAAAACACTTTTAAAAAATA TTTTTAAAAAACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAA TATTTTTAAAAAACACTTTTAAAAA	SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC66A2_chr18_79897420_79956653	79952602	G G	GGCGCGCG others(96): Show GGCGCGCGGGTGAGGGGTGAGGGGCGCGCGGGTGAAGAGTGAGGGGCGCG CTGGTGAGGCGTGAGTGATGCGCGGGTGAAGGGTGAGGGGCGCGCGGGTG AAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG03579.hp2 HG02258.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0293 a0001c0001t0014g0294 a0001c0001t0014g0293 a0001c0001t0014g0294	2	352	0.0057	103	c.-11 others(114): Show c.-1122_-1121insTCTTCACCCGCGCGCCCCTCACCCTTCACCCGCG CATCACTCACGCCTCACCAGCGCGCCCCTCACTCTTCACCCGCGCGCCCC TCACCCCTCACCCGCGCGC	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding		950		chr18	TogoVar
SLC7A10_chr19_33203664_33230850	33218661	A A	ATTTCTTT others(96): Show ATTTCTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTC TTTC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	410	0.0024	103	c.152 others(120): Show c.152-2689_152-2688insGAAAGAAAGAAAGAAAGAAAGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGAAAGAAAGAAA	SLC7A10	ENSG00000130876.11	transcript	ENST00000253188.8	protein_coding	1/10			chr19	TogoVar
SLC7A10_chr19_33203664_33230850	33218661	A A	ATTTCTTT others(96): Show ATTTCTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02293.hp2 HG01257.hp1 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0377 a0001c0001t0001g0378 a0001c0001t0001g0377 a0001c0001t0001g0378	2	410	0.0049	103	c.152 others(120): Show c.152-2689_152-2688insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGAAAGAAAGAAA	SLC7A10	ENSG00000130876.11	transcript	ENST00000253188.8	protein_coding	1/10			chr19	TogoVar
SLC9A3_chr5_465456_529449	495377	G G	GCTCCGCG others(96): Show GCTCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCCCCGCGCCATCGC CGACCCTCCCCACGCTCCACTCCCCGCGCCATCGCCGACCCTCCCCACGC TCCA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00423.hp2 others(15): Show HG00280.hp1 HG00408.hp1 HG00423.hp2 HG01071.hp1 HG01943.hp1 HG02056.hp1 HG02132.hp2 HG02148.hp2 HG02572.hp2 HG02809.hp1 HG03704.hp2 HG03710.hp1 NA18940.hp2 NA18975.hp1 NA19057.hp2 NA19074.hp1 NA19085.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0007 a0001c0019 others(2): Show a0001c0001 a0001c0007 a0001c0019 a0002c0002 a0007c0016	a0001c0001t0001 a0001c0001t0004 a0001c0001t0022 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0022 a0001c0007t0012 a0001c0019t0009 a0002c0002t0003 a0007c0016t0002	a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0041 others(15): Show a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0041 a0001c0001t0001g0059 a0001c0001t0001g0080 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0131 a0001c0001t0001g0142 a0001c0001t0004g0084 a0001c0001t0022g0070 a0001c0007t0012g0176 a0001c0019t0009g0008 a0002c0002t0003g0163 a0007c0016t0002g0017	18	218	0.0826	103	c.212 others(120): Show c.212-3307_212-3306insTGGAGCGTGGGGAGGGTCGGCGATGGCG CGGGGAGTGGAGCGTGGGGAGGGTCGGCGATGGCGCGGGGAGTGGAGCGT GGGGAGGGTCGGCGATGGCGCGGAG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLCO3A1_chr15_91848708_92170903	92047039	T T	TAAATATA others(96): Show TAAATATATATATATAAATATATATATAATATATAAATATATATATATAA ATATATATAATATATAAATATATATATAAATATATAATATATAAATATAT ATAC	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0119 a0001c0001t0016g0119	1	190	0.0053	103	c.647 others(122): Show c.647-47829_647-47828insTAAATATATATATAATATATAAATAT ATATATATAAATATATATAATATATAAATATATATATAAATATATAATAT ATAAATATATATACAAATATATATATA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMOC2_chr6_168436184_168672992	168668970	C C	CGTCCCCC others(96): Show CGTCCCCCTCCCCCACACCCTACGCCCCCCTCCCCCACACCCCCCCTCCC CCACACCCCAGGTCCCCCTCCCCAACACCCTGCATCCCCTCCCCCACGCC TGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0016 a0001c0002t0007g0016	1	180	0.0056	103	c.25 others(114): Show c.2532_*2533insGTCCCCCTCCCCCACACCCTACGCCCCCCTCCCC CACACCCCCCCTCCCCCACACCCCAGGTCCCCCTCCCCAACACCCTGCAT CCCCTCCCCCACGCCTGCT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding		979		chr6	TogoVar
SMOC2_chr6_168436184_168672992	168668970	C C	CGTCCCCC others(96): Show CGTCCCCCTCCCCCACACCCTACGCCCCCCTCCCCCACGCCCCCCCTCCC CCACACCCCAGGTCCCCCTCCCCAACACCCTGCATCCCCTCCCCCACGCC TGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(66): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01081.hp1 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01346.hp2 HG01361.hp2 HG01496.hp1 HG01516.hp1 HG01884.hp2 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02056.hp1 HG02056.hp2 HG02129.hp2 HG02293.hp1 HG02735.hp1 HG02735.hp2 HG02896.hp1 HG02970.hp1 HG02970.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18943.hp2 NA18950.hp1 NA18960.hp2 NA18963.hp2 NA18971.hp1 NA18973.hp2 NA18990.hp1 NA18990.hp2 NA19012.hp2 NA19030.hp2 NA19065.hp1 NA19068.hp2 NA19079.hp1 NA19080.hp1 NA19085.hp1 NA19091.hp2 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0011 a0004c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0015 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0016 a0001c0004t0005 a0001c0007t0005 a0001c0011t0006 a0004c0009t0003	a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 others(66): Show a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0123 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0090 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0109 a0001c0001t0003g0116 a0001c0001t0003g0120 a0001c0001t0003g0135 a0001c0001t0003g0149 a0001c0001t0003g0169 a0001c0001t0003g0171 a0001c0001t0006g0128 a0001c0001t0006g0160 a0001c0001t0009g0161 a0001c0001t0015g0163 a0001c0002t0002g0008 a0001c0002t0002g0015 a0001c0002t0002g0023 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0066 a0001c0002t0005g0069 a0001c0002t0007g0053 a0001c0002t0008g0045 a0001c0002t0008g0047 a0001c0002t0016g0046 a0001c0004t0005g0048 a0001c0004t0005g0051 a0001c0007t0005g0050 a0001c0011t0006g0167 a0004c0009t0003g0088	69	180	0.3833	103	c.25 others(114): Show c.2532_*2533insGTCCCCCTCCCCCACACCCTACGCCCCCCTCCCC CACGCCCCCCCTCCCCCACACCCCAGGTCCCCCTCCCCAACACCCTGCAT CCCCTCCCCCACGCCTGCT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding		979		chr6	TogoVar
SMOC2_chr6_168436184_168672992	168668970	C C	CGTCCCCC others(96): Show CGTCCCCCTCCCCCACACCCTACGCCCCCCTCCCCCACGTCCCCCCTCCC CCACACCCCAGGTCCCCCTCCCCCACACCCTGCATCCCCTCCCCCACGCC TGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00738.hp2 HG01081.hp2 others(3): Show HG00099.hp2 HG00738.hp2 HG01081.hp2 HG01167.hp2 HG01496.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0004 a0001c0001t0004 a0001c0003t0004	a0001c0001t0004g0118 a0001c0001t0004g0122 a0001c0001t0004g0129 others(3): Show a0001c0001t0004g0118 a0001c0001t0004g0122 a0001c0001t0004g0129 a0001c0003t0004g0100 a0001c0003t0004g0101 a0001c0003t0004g0102	6	180	0.0333	103	c.25 others(114): Show c.2532_*2533insGTCCCCCTCCCCCACACCCTACGCCCCCCTCCCC CACGTCCCCCCTCCCCCACACCCCAGGTCCCCCTCCCCCACACCCTGCAT CCCCTCCCCCACGCCTGCT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding		979		chr6	TogoVar
SORCS2_chr4_7187538_7747827	7449141	C C	CTCCCTCC others(96): Show CTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCTCTTCCT CCCTCCCTCCCTCCCTCCCTCCCTTCCTCTTTTCCCTCTCTCCCTCCCTT CCTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0058 a0001c0002t0058	a0001c0002t0058g0019 a0001c0002t0058g0019	1	168	0.0060	103	c.548 others(122): Show c.548+52788_548+52789insCCTCCCTTCCTCCCTCCCTTCCTCCC TCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTC TTTTCCCTCTCTCCCTCCCTTCCTGTC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7676799	T T	TTCTCTCT others(96): Show TTCTCTCTCTCTCCCTCTCCCTCTCTCCACCCCAGCCCCTTCGTCTCCTC CTTCCTCTCCCTCTGTGTGTCTGAAGTCTGCCTTTCTCTCTCTCTCTCTC TCTC	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA19030.hp2 HG06807.hp1 NA19030.hp2	a0001 a0016 a0001 a0016	a0001c0010 a0016c0019 a0001c0010 a0016c0019	a0001c0010t0027 a0016c0019t0018 a0001c0010t0027 a0016c0019t0018	a0001c0010t0027g0105 a0016c0019t0018g0027 a0001c0010t0027g0105 a0016c0019t0018g0027	2	168	0.0119	103	c.134 others(120): Show c.1341+573_1341+574insCTCTCTCTCCCTCTCCCTCTCTCCACCC CAGCCCCTTCGTCTCCTCCTTCCTCTCCCTCTGTGTGTCTGAAGTCTGCC TTTCTCTCTCTCTCTCTCTCTCTCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPAG16_chr2_213279464_214415501	213833494	A A	ATATTATA others(96): Show ATATTATATATAATATATAATATATATTATATATATAATATATATTATAT ATATAATATATATATTATATATAATATATATAATATATATTATATATATA TTAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0010 a0002c0002t0001g0010	1	86	0.0116	103	c.107 others(124): Show c.1071-28991_1071-28990insTATTATATATAATATATAATATAT ATTATATATATAATATATATTATATATATAATATATATATTATATATAAT ATATATAATATATATTATATATATATTAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15			chr2	TogoVar
SPINT4_chr20_45717347_45730830	45724995	A A	AAAAAAAT others(96): Show AAAAAAATATATATATATATATATATATATATATATATACACATATATAT ATATATATACACATATATATATATATACACATATATATATATATATACAC ATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0079 a0002c0002t0001g0079	1	458	0.0022	103	c.294 others(118): Show c.294-633_294-632insAAAAATATATATATATATATATATATATAT ATATATACACATATATATATATATATACACATATATATATATATACACAT ATATATATATATATACACATATA	SPINT4	ENSG00000149651.4	transcript	ENST00000279058.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPRTN_chr1_231333293_231360023	231359395	C C	CATTAGAA others(96): Show CATTAGAAAGAAGAAAAGAAGTCAGCTAAGACAGAGGACGAGCAATCAGA GGAGTGACTGGAAACCAGGAATGACAGTGTTGCCACAACAAGAGGGAAGC AAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	352	0.0028	103	c.60 others(114): Show c.6034_*6035insATTAGAAAGAAGAAAAGAAGTCAGCTAAGACAGA GGACGAGCAATCAGAGGAGTGACTGGAAACCAGGAATGACAGTGTTGCCA CAACAAGAGGGAAGCAAGA	SPRTN	ENSG00000010072.16	transcript	ENST00000295050.12	protein_coding		4373		chr1	TogoVar
SPRY3_chrX_155607586_155787459	155755124	T T	TCATTTGT others(96): Show TCATTTGTATGGATATAACCACTCTACCATTTGCCCCTATAACAGTGCAG AATTTGCAATATATCTACAAAAATTGTAAAAATTGTTTGAGTCCTGGTGA AGTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp2 HG02717.hp1 others(12): Show HG02055.hp1 HG02109.hp2 HG02717.hp1 HG02723.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02976.hp1 HG03225.hp1 HG03471.hp1 HG03486.hp1 HG03540.hp1 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0001t0021 a0001c0001t0042 others(11): Show a0001c0001t0007 a0001c0001t0021 a0001c0001t0042 a0001c0001t0043 a0001c0001t0068 a0001c0001t0069 a0001c0001t0077 a0001c0001t0081 a0001c0001t0092 a0001c0001t0122 a0001c0002t0029 a0001c0002t0076 a0001c0002t0125 a0001c0002t0131	a0001c0001t0007g0131 a0001c0001t0021g0059 a0001c0001t0021g0060 others(12): Show a0001c0001t0007g0131 a0001c0001t0021g0059 a0001c0001t0021g0060 a0001c0001t0042g0070 a0001c0001t0043g0132 a0001c0001t0068g0206 a0001c0001t0069g0109 a0001c0001t0077g0078 a0001c0001t0081g0108 a0001c0001t0092g0076 a0001c0001t0122g0107 a0001c0002t0029g0121 a0001c0002t0076g0103 a0001c0002t0125g0215 a0001c0002t0131g0012	15	231	0.0649	103	c.-28 others(124): Show c.-281-12838_-281-12837insCATTTGTATGGATATAACCACTCT ACCATTTGCCCCTATAACAGTGCAGAATTTGCAATATATCTACAAAAATT GTAAAAATTGTTTGAGTCCTGGTGAAGTC	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2			chrX	TogoVar
STIMATE_chr3_52831733_52902548	52832664	T T	TGCAGGCA others(96): Show TGCAGGCAGGGAGAGGGGTTTTGAGGTCCCTAGTGCAGTGCAGGGAGAGG GGTTTTTGAGGTCCTAGTGCAGTGCAGGGAGAGGGGTTTTGAGGTCCCTA GGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	334	0.0030	103	c.78 others(114): Show c.7829_*7830insCACCTAGGGACCTCAAAACCCCTCTCCCTGCACT GCACTAGGACCTCAAAAACCCCTCTCCCTGCACTGCACTAGGGACCTCAA AACCCCTCTCCCTGCCTGC	STIMATE	ENSG00000213533.13	transcript	ENST00000355083.11	protein_coding		4068		chr3	TogoVar
SV2C_chr5_76078383_76338956	76172129	C C	CGCCCGGC others(96): Show CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGTCGGCCC CCCT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0067 a0001c0001t0018g0067	1	234	0.0043	103	c.581 others(122): Show c.581-22770_581-22769insCGGGAGGGAGGTGGGGGGGTCGGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGTCGG CCCCCCTGCCCGGCCAGCCGCCCCGTC	SV2C	ENSG00000122012.14	transcript	ENST00000502798.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
SV2C_chr5_76078383_76338956	76172420	T T	TGGGGGGG others(96): Show TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02976.hp2 HG03139.hp2 others(1): Show HG01255.hp1 HG02976.hp2 HG03139.hp2 NA19001.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0131 a0001c0001t0136 a0001c0002t0029 others(1): Show a0001c0001t0131 a0001c0001t0136 a0001c0002t0029 a0002c0003t0017	a0001c0001t0131g0181 a0001c0001t0136g0095 a0001c0002t0029g0141 others(1): Show a0001c0001t0131g0181 a0001c0001t0136g0095 a0001c0002t0029g0141 a0002c0003t0017g0030	4	234	0.0171	103	c.581 others(122): Show c.581-22492_581-22491insTCGGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGGGGGG	SV2C	ENSG00000122012.14	transcript	ENST00000502798.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
SV2C_chr5_76078383_76338956	76172426	G G	GGTCGGCC others(96): Show GGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG GGGT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0095 a0002c0006t0095	a0002c0006t0095g0091 a0002c0006t0095g0091	1	234	0.0043	103	c.581 others(122): Show c.581-22492_581-22491insTCGGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGGGGTG	SV2C	ENSG00000122012.14	transcript	ENST00000502798.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
SYNM_chr15_99100080_99140593	99104555	A A	ATATATAT others(96): Show ATATATATATATATATATATATATATATATGTATATATATATGTATATAT ATGTGTATATATATATATGTGTGTGTATATATATATATATATATATATAT TTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0007 a0002c0005t0007	a0002c0005t0007g0009 a0002c0005t0007g0009	1	420	0.0024	103	c.-64 others(112): Show c.-645_-644insTATATATATATATATATATATATATATATGTATATA TATATGTATATATATGTGTATATATATATATGTGTGTGTATATATATATA TATATATATATATTTTT	SYNM	ENSG00000182253.15	transcript	ENST00000336292.11	protein_coding		524		chr15	TogoVar
TALDO1_chr11_742464_770012	763172	C C	CTGGGCGT others(96): Show CTGGGCGTCGGGGTTCAAGCTGGGCAGAGTTAAAACTTTGGTGAGACCCC AGGTCTCATTCACGTGCTGTCCAGCAAGTGGGGCCTGTTGAGGCCATCCC AGGG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01175.hp2 NA20805.hp2 HG00738.hp2 HG01175.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0058 a0001c0001t0001g0025 a0001c0001t0001g0058	3	416	0.0072	103	c.462 others(118): Show c.462-169_462-168insGCGTCGGGGTTCAAGCTGGGCAGAGTTAAA ACTTTGGTGAGACCCCAGGTCTCATTCACGTGCTGTCCAGCAAGTGGGGC CTGTTGAGGCCATCCCAGGGTGG	TALDO1	ENSG00000177156.11	transcript	ENST00000319006.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
TAOK1_chr17_29385363_29556903	29397672	T T	TATACATG others(96): Show TATACATGTATACATGTACATTCATGTATGATACATGTATACATGTATAC ATGTATATTCATGTATGATACATGTATACATGTATACATGTATATTCATG TATG	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0276 a0001c0001t0006g0276	1	326	0.0031	103	c.-95 others(120): Show c.-95+6665_-95+6666insCATTCATGTATGATACATGTATACATGT ATACATGTATATTCATGTATGATACATGTATACATGTATACATGTATATT CATGTATGATACATGTATACATGTA	TAOK1	ENSG00000160551.12	transcript	ENST00000261716.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr17	TogoVar

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