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
RTP5_chr2_241864729_241878823	241874962	G G	GGGGTCCT others(201): Show GGGGTCCTAGGAGAAACCCCAATCCAGGTCTCAGGGCCCAACTGCAGGGA CGAGGGTCCCAGGGGAAACCCCAATCCAGGTCTCAGGGCCCAACTGCAGG GACGAGGGTCCCAGGGGAAACCCCAATCCAGGTCTCAGGGCCCAACTGCA GGGACGAGGGTCCCAGGAGAAACCCCAATCCAGGTCTCAGGGCCCAACTG CAGGGACGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	365	0.0027	208	c.16 others(219): Show c.1688_*1689insGGGTCCTAGGAGAAACCCCAATCCAGGTCTCAGG GCCCAACTGCAGGGACGAGGGTCCCAGGGGAAACCCCAATCCAGGTCTCA GGGCCCAACTGCAGGGACGAGGGTCCCAGGGGAAACCCCAATCCAGGTCT CAGGGCCCAACTGCAGGGACGAGGGTCCCAGGAGAAACCCCAATCCAGGT CTCAGGGCCCAACTGCAGGGACGA	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		1140		chr2	TogoVar
RTP5_chr2_241864729_241878823	241874973	A A	AGAAACCC others(201): Show AGAAACCCCAATCCAGGTCTCAGGGCCCAACTGCAGGGACGAGGGTCCCA GGGGAAACCCCAATCCAGGTCTCAGGGCCCAACTGCAGGGACGAGGGTCC CAGGGGAAACCCCAATCCAGGTCTCAGGGCCCAACTGCAGGGACGAGGGT CCCAGGAGAAACCCCAATCCAGGTCTCAGGGCCCAACTGCAGGGACGAGG GTCCCAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp1 NA18969.hp1 NA18959.hp1 NA18969.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0001 a0003c0003t0002g0001	2	365	0.0055	208	c.16 others(219): Show c.1699_*1700insGAAACCCCAATCCAGGTCTCAGGGCCCAACTGCA GGGACGAGGGTCCCAGGGGAAACCCCAATCCAGGTCTCAGGGCCCAACTG CAGGGACGAGGGTCCCAGGGGAAACCCCAATCCAGGTCTCAGGGCCCAAC TGCAGGGACGAGGGTCCCAGGAGAAACCCCAATCCAGGTCTCAGGGCCCA ACTGCAGGGACGAGGGTCCCAGGG	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		1151		chr2	TogoVar
RXRA_chr9_134321455_134445585	134444375	C C	CTCCCTCC others(201): Show CTCCCTCCTTCCCCCTCCCTCCCTCCTTCCCCTTCCCTCCTGCTTTCCCC CTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCT CTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCTCTCCCTCCTTCCCCCTCC CTCCTCCCTTCCCCCTCCCTCTTCCCTTCCCCCTCCCTCCTCCCTTCCCC CTCCTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	232	0.0043	208	c.77 others(219): Show c.7761_*7762insTCCCTCCTTCCCCCTCCCTCCCTCCTTCCCCTTC CCTCCTGCTTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTC CCTCCTTCCTTCCCTCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCTCTC CCTCCTTCCCCCTCCCTCCTCCCTTCCCCCTCCCTCTTCCCTTCCCCCTC CCTCCTCCCTTCCCCCTCCTCCCT	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding		3791		chr9	TogoVar
SARDH_chr9_133658560_133743352	133668886	C C	CACCCTCC others(201): Show CACCCTCCATCTCCCCTCACCCTCCATCTCCCTCACCCTCCCTCTCCCCT CATCCTCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCCTCACCCT CCCTCTCCCTCACCCTCCCTCTCCCCTCATCCTCCCTCACCCTCCCTCTC CCTCACCCTCCCTCTCCCCTTACCCTCCCCCTCCCTCTCCCTCACCTTCC CTCTCCCCT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0003 a0003	a0003c0035 a0003c0035	a0003c0035t0004 a0003c0035t0004	a0003c0035t0004g0040 a0003c0035t0004g0040	1	262	0.0038	208	c.249 others(227): Show c.2495+1697_2495+1698insAGGGGAGAGGGAAGGTGAGGGAGAGG GAGGGGGAGGGTAAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGG AGGATGAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGGAGAGGG AGGGTGAGGGGAGAGGGAGGGTGAGGGAGGATGAGGGGAGAGGGAGGGTG AGGGAGATGGAGGGTGAGGGGAGATGGAGGGT	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SAT1_chrX_23778173_23791210	23780122	C C	CACACATA others(201): Show CACACATATATATGTGTATATATATACGTATATATACACACATATATATG TGTATATATATATACGTATATATACACACATATATATGTGTATATATATA CGTATATATACACATATATATGTGTATATATATACGTATATATACACATA TATATGTGTATATATACGTATATATATACACATATATATGTGTATATATA CGTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp1 NA18975.hp2 NA19010.hp1 others(1): Show NA18972.hp1 NA18975.hp2 NA19010.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0003 a0001c0001t0001g0006	4	330	0.0121	208	c.-32 others(219): Show c.-3230_-3229insACACATATATATGTGTATATATATACGTATATAT ACACACATATATATGTGTATATATATATACGTATATATACACACATATAT ATGTGTATATATATACGTATATATACACATATATATGTGTATATATATAC GTATATATACACATATATATGTGTATATATACGTATATATATACACATAT ATATGTGTATATATACGTATATAT	SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding		3050		chrX	TogoVar
SCART1_chr10_133448945_133474760	133472535	G G	GTCTGGTC others(201): Show GTCTGGTCAGTTGAGTGTGGCGTCTCCCTCCTGAGGTCTGGTCAGTTGAG TGTGGCGTCTCCCTCCTGAGATCTGGTCAGTTGAGTGTGGCGTCTCCCTC CTGAGATCTGGTCAGTTGAGTGTGGCGTCTCCCTCCTGAGATCTGGTCGT TGAGTGTGGCGTCTCCCTCCTGAGATCTGGTCGTTGAGTGTGGCGTCTCC CTTCTGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0003 a0004c0010t0003	a0004c0010t0003g0034 a0004c0010t0003g0034	1	434	0.0023	208	c.45 others(219): Show c.4567_*4568insTCTGGTCAGTTGAGTGTGGCGTCTCCCTCCTGAG GTCTGGTCAGTTGAGTGTGGCGTCTCCCTCCTGAGATCTGGTCAGTTGAG TGTGGCGTCTCCCTCCTGAGATCTGGTCAGTTGAGTGTGGCGTCTCCCTC CTGAGATCTGGTCGTTGAGTGTGGCGTCTCCCTCCTGAGATCTGGTCGTT GAGTGTGGCGTCTCCCTTCTGAGA	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding		2776		chr10	TogoVar
SCHIP1_chr3_159268244_159902359	159680706	T T	TATATATA others(201): Show TATATATAATATATGTATATATAATATACATATATTATATATGTATATAT ATATACATATATAATATATGTATATATATATACATATATAATATATGTAT ATATATACATATATTATATATGTATATATAATATACATATATAATATATG TATATATATAATATACATATATAATATATGTATATATATAATATACATAT ATAATATAC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0034 a0002c0003t0001g0034	1	100	0.0100	208	c.64- others(225): Show c.64-83715_64-83714insATATACATATATTATATATGTATATATA TATACATATATAATATATGTATATATATATACATATATAATATATGTATA TATATACATATATTATATATGTATATATAATATACATATATAATATATGT ATATATATAATATACATATATAATATATGTATATATATAATATACATATA TAATATACATATATAATATATGTATATATA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGGGGTT others(201): Show GGGGGGTTGGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGGT GGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGG GTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGT GAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGG GTTGAGTGA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03540.hp1 HG02896.hp2 HG03540.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0141 a0003c0004t0003g0148 a0003c0004t0003g0141 a0003c0004t0003g0148	2	290	0.0069	208	c.464 others(221): Show c.464+91_464+92insTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGA GGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGG GGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGT GTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGTGTTGGGTGAGG GGTTGGGGTTGAGTGAGGGGGTTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289395	C C	CCGTGTCT others(201): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGC CCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCTCCGT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0027 a0002c0003t0002g0027	1	290	0.0035	208	c.166 others(225): Show c.1663-875_1663-874insGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCCCCGTCCCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289973	T T	TCCCTGCT others(201): Show TCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGT CCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCT CCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTC TCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CCCGTGTCC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	290	0.0035	208	c.166 others(225): Show c.1663-297_1663-296insCCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTG CTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAG TCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCCCGTGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCTR_chr2_119434843_119529483	119444506	T T	TATATATA others(201): Show TATATATATACACATATATACGTACGAATATATATACACATATATACGTA CGAATATATATACACATATATACGTACGAATATATATACACATATATACG TACGAATATATATACACATATATACGTACGAATATATATACACATATATA CGTACGAATATATATACACATATATACGTACGAATATATATACACATATA TACGTACGA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0192 a0001c0002t0001g0192	1	290	0.0035	208	c.114 others(227): Show c.1140+2045_1140+2252dupTCGTACGTATATATGTGTATATATAT TCGTACGTATATATGTGTATATATATTCGTACGTATATATGTGTATATAT ATTCGTACGTATATATGTGTATATATATTCGTACGTATATATGTGTATAT ATATTCGTACGTATATATGTGTATATATATTCGTACGTATATATGTGTAT ATATATTCGTACGTATATATGTGTATATATAT	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12			chr2	TogoVar
SCTR_chr2_119434843_119529483	119444506	T T	TATATATA others(201): Show TATATATATACACATATATACGTACGTATATATATACACATATATACGTA CGAATATATATACACATATATACGTACGAATATATATACACATATATACG TACGAATATATATACACATATATACGTACGAATATATATACACATATATA CGTACGAATATATATACACATATATACGTACGAATATATATACACATATA TACGTACGA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0211 a0001c0002t0001g0211	1	290	0.0035	208	c.114 others(227): Show c.1140+2252_1140+2253insTCGTACGTATATATGTGTATATATAT TCGTACGTATATATGTGTATATATATTCGTACGTATATATGTGTATATAT ATTCGTACGTATATATGTGTATATATATTCGTACGTATATATGTGTATAT ATATTCGTACGTATATATGTGTATATATATTCGTACGTATATATGTGTAT ATATATACGTACGTATATATGTGTATATATAT	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12			chr2	TogoVar
SENP7_chr3_101319205_101518212	101364228	A A	AAAAGAAA others(201): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0010 a0001c0003t0002g0010	1	370	0.0027	208	c.147 others(225): Show c.1476+605_1476+606insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	10/23			chr3	TogoVar
SETBP1_chr18_44675888_45073510	44721942	C C	CAAATCTT others(201): Show CAAATCTTTGTGGCTTCTGATAATTTGCATATTGTCACTTGTTTGCCAAC TAGAGGGTATCTGGACATGTGTATGTGAGAGGGCATCTGCGTGGACATGC ATGTGAAATCTTTGTGGCTTCTGATAATTTGCATATTGTCACTTGTTTGC CAACTAGAGGGTATCTGGACATGTGTATGTGAGAGGGCATCTGCGTGGAC ATGCATGTG	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	140	0.0071	208	c.486 others(227): Show c.486+20111_486+20318dupAAATCTTTGTGGCTTCTGATAATTTG CATATTGTCACTTGTTTGCCAACTAGAGGGTATCTGGACATGTGTATGTG AGAGGGCATCTGCGTGGACATGCATGTGAAATCTTTGTGGCTTCTGATAA TTTGCATATTGTCACTTGTTTGCCAACTAGAGGGTATCTGGACATGTGTA TGTGAGAGGGCATCTGCGTGGACATGCATGTG	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SH3TC1_chr4_8194290_8246103	8211402	T T	TCCTCTCC others(201): Show TCCTCTCCCCCTCCCAGTTTCTCCCCTCTCCCTCCCTCTCCACCCTCCTC ACCGTTGTCTCCCTTCTCCCTCCCTCTCCCCCTCCTGGTTTCTCCCCTCT TCCTTCCTCTCCCCCTCCTGGTTTCTCCCCTCTTCCTTCCTCTCCCCCTC CCAGTTTCTCCCCTCTCCCTCCCTCTCCACCCTCCTCACCGTTGTCTCCC TTCTCCCTC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03139.hp2 HG03098.hp1 HG03139.hp2	a0001 a0001	a0001c0021 a0001c0033 a0001c0021 a0001c0033	a0001c0021t0001 a0001c0033t0001 a0001c0021t0001 a0001c0033t0001	a0001c0021t0001g0364 a0001c0033t0001g0105 a0001c0021t0001g0364 a0001c0033t0001g0105	2	374	0.0054	208	c.248 others(225): Show c.248-1286_248-1285insCAGTTTCTCCCCTCTCCCTCCCTCTCCA CCCTCCTCACCGTTGTCTCCCTTCTCCCTCCCTCTCCCCCTCCTGGTTTC TCCCCTCTTCCTTCCTCTCCCCCTCCTGGTTTCTCCCCTCTTCCTTCCTC TCCCCCTCCCAGTTTCTCCCCTCTCCCTCCCTCTCCACCCTCCTCACCGT TGTCTCCCTTCTCCCTCCCTCTCCCCCTCC	SH3TC1	ENSG00000125089.18	transcript	ENST00000245105.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(201): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCT TCCCTTCCC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0087 a0001c0001t0087	a0001c0001t0087g0206 a0001c0001t0087g0206	1	214	0.0047	208	c.691 others(227): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTC CCCCTCCCTTCCCTTCCCTTCCCTTCCCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SIGIRR_chr11_400716_419999	402345	C C	CCCACTCA others(201): Show CCCACTCACACCCGGCCCCGCTCACCCCCGCCCCGCTCACCCCCGACCCG CTCACACCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCA CCCCGGACCCCGCTCACACCCCGACCCGCTCACCCCGGCCCCGCTCACCC CCAGCCCCGCTCACACCCGCCCCGCTCACCCGGGACCCCGCTCACACCCG CCCCGCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	242	0.0041	208	c.35 others(219): Show c.3550_*3551insTGAGCGGGGCGGGTGTGAGCGGGGTCCCGGGTGA GCGGGGCGGGTGTGAGCGGGGCTGGGGGTGAGCGGGGCCGGGGTGAGCGG GTCGGGGTGTGAGCGGGGTCCGGGGTGAGCGGGGCGGGTGTGAGCGGGGC CGGGGTGAGCGGGGCCGGGTGTGAGCGGGTCGGGGGTGAGCGGGGCGGGG GTGAGCGGGGCCGGGTGTGAGTGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3370		chr11	TogoVar
SIGIRR_chr11_400716_419999	411476	A A	AGGGGGGG others(201): Show AGGGGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGAGGGGGG TGCCCAGCTCTGACCATGTCTGGATACAGTCGGCGGGGGGTGCCCAGCTC TGACCATGTCTGGATGCAGTCGGGGGGTGCCCAGCTCTGACCATGTCTGG ATACAGTCGGTGGGGGTTGCCCAGCTCTGACCATGTCTGGATACAGTCGG TGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03654.hp1 HG02109.hp1 HG03654.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0003c0007t0001 a0001c0001t0001 a0003c0007t0001	a0001c0001t0001g0198 a0003c0007t0001g0199 a0001c0001t0001g0198 a0003c0007t0001g0199	2	242	0.0083	208	c.-15 others(227): Show c.-153-1450_-153-1449insCCCCCCCCACCGACTGTATCCAGACA TGGTCAGAGCTGGGCAACCCCCACCGACTGTATCCAGACATGGTCAGAGC TGGGCACCCCCCGACTGCATCCAGACATGGTCAGAGCTGGGCACCCCCCG CCGACTGTATCCAGACATGGTCAGAGCTGGGCACCCCCCTCCCCGACTGC ATCCAGACATGGTCAGAGCTGGGCACCCCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGIRR_chr11_400716_419999	411476	A A	AGGGGGGT others(201): Show AGGGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGAGGGGGGG TGCCCAGCTCTGACCATGTCTGGATACAGTCGGCGGGGGGTGCCCAGCTC TGACCATGTCTGGATGCAGTCGGGGGGTGCCCAGCTCTGACCATGTCTGG ATACAGTCGGTGGGGGTTGCCCAGCTCTGACCATGTCTGGATACAGTCGG TGGGGGGGG	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	242	0.0041	208	c.-15 others(227): Show c.-153-1450_-153-1449insCCCCCCCCACCGACTGTATCCAGACA TGGTCAGAGCTGGGCAACCCCCACCGACTGTATCCAGACATGGTCAGAGC TGGGCACCCCCCGACTGCATCCAGACATGGTCAGAGCTGGGCACCCCCCG CCGACTGTATCCAGACATGGTCAGAGCTGGGCACCCCCCCTCCCCGACTG CATCCAGACATGGTCAGAGCTGGGCACCCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGIRR_chr11_400716_419999	411476	A A	AGGGGGGT others(201): Show AGGGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGAGGGGGGT GCCCAGCTCTGACCATGTCTGGATACAGTCGGCGGGGGGTGCCCAGCTCT GACCATGTCTGGATGCAGTCGGGGGGTGCCCAGCTCTGACCATGTCTGGA TACAGTCGGTGGGGGTTGCCCAGCTCTGACCATGTCTGGATACAGTCGGT GGGGGGGGG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01175.hp1 HG01175.hp2 others(17): Show HG00438.hp1 HG01175.hp1 HG01175.hp2 HG01261.hp1 HG01993.hp1 HG02132.hp1 HG02145.hp2 HG02258.hp2 HG02451.hp2 HG02615.hp1 HG02630.hp2 HG02809.hp1 HG03579.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA19043.hp1 NA19066.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0144 a0001c0001t0001g0145 others(17): Show a0001c0001t0001g0137 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0200 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0218 a0001c0001t0001g0219	20	242	0.0826	208	c.-15 others(227): Show c.-153-1450_-153-1449insCCCCCCCCCACCGACTGTATCCAGAC ATGGTCAGAGCTGGGCAACCCCCACCGACTGTATCCAGACATGGTCAGAG CTGGGCACCCCCCGACTGCATCCAGACATGGTCAGAGCTGGGCACCCCCC GCCGACTGTATCCAGACATGGTCAGAGCTGGGCACCCCCCTCCCCGACTG CATCCAGACATGGTCAGAGCTGGGCACCCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SLC12A1_chr15_48201302_48309078	48270750	G G	GTATATAT others(201): Show GTATATATATATATATATATATATATATATATACTCTAAGTATTATATAT TATATACTCCAAAACTGTGTGTGTGTGTGTATATATATATATATATATGT ATATATATATATATTTATACACACATATATATACATACACATATATATAT ACACACACACACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTAT ATATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18997.hp2 HG00544.hp1 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0196 a0001c0002t0001g0146 a0001c0001t0001g0196 a0001c0002t0001g0146	2	266	0.0075	208	c.240 others(227): Show c.2402+1018_2402+1019insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTGTATATATATATATATATATGTATATATATA TATATTTATACACACATATATATACATACACATATATATATACACACACA CACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATATATATA TATATATATATATATATATATATATATATATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A1_chr15_48201302_48309078	48270750	G G	GTATATAT others(201): Show GTATATATATATATATATATATATATATATATATACTCTAAGTATTATAT ATTATATACTCCAAAACTGTGTGTGTGTGTGTATATATATATATATATAT GTATATATATATATATTTATACACACATATATATACATACACATATATAT ATACACACACACACAGAGTTTTGGAGTATATAATATATAATACTTAGAGT ATATATATA	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0198 a0001c0004t0001g0198	1	266	0.0038	208	c.240 others(227): Show c.2402+1020_2402+1021insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTGTATATATATATATATATATGTATATATATA TATATTTATACACACATATATATACATACACATATATATATACACACACA CACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATATATATA TATATATATATATATATATATATATATATATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC25A41_chr19_6421037_6438763	6429421	A A	AAGGAAGA others(201): Show AAGGAAGAAAGGAGGAGGGAAGGAGGAGGAAGAAAGGAGGGGAGGAGGAG AGGAAAGAGGAGGGGAGGAGGAGGGAGAAAGGAGGAGGAGGAGGAGGAAG AAAGGAGGGGAGGAGGAGAGGAAAGAGGAGGGGAGGAGAAGGGAGAAAGG AGGAGGGAAGGAGGAGGAAGAAAGGAGGGGAGGAGGAGAGGAAAGAGGAG GGGAGGAGG	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	350	0.0029	208	c.624 others(223): Show c.624+302_624+303insCCTCCTCCCCTCCTCTTTCCTCTCCTCCTC CCCTCCTTTCTTCCTCCTCCTTCCCTCCTCCTTTCTCCCTTCTCCTCCCC TCCTCTTTCCTCTCCTCCTCCCCTCCTTTCTTCCTCCTCCTCCTCCTCCT TTCTCCCTCCTCCTCCCCTCCTCTTTCCTCTCCTCCTCCCCTCCTTTCTT CCTCCTCCTTCCCTCCTCCTTTCTTCCT	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC27A5_chr19_58493333_58516992	58502464	C C	CAGAGTAG others(201): Show CAGAGTAGTGAGTGAGAAGATGGATGGGTGAACAGTTAGAGTAGTGAGTG AGTGGATGGATGGGTGGACAGTTAGAGTAGTGAGTGAGTAGATGGATGGG TGGACAGAGTAGTGAGTGAGAAGATGGATGTGTGGACAGAGTAGTGAGTG AGAAGATGGATGGGTGAACAGTTAGAGTAGTGAGTGAGTAGATGGATGGG TGGACAGTT	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	424	0.0024	208	c.105 others(227): Show c.1058-1055_1058-1054insAACTGTCCACCCATCCATCTACTCAC TCACTACTCTAACTGTTCACCCATCCATCTTCTCACTCACTACTCTGTCC ACACATCCATCTTCTCACTCACTACTCTGTCCACCCATCCATCTACTCAC TCACTACTCTAACTGTCCACCCATCCATCCACTCACTCACTACTCTAACT GTTCACCCATCCATCTTCTCACTCACTACTCT	SLC27A5	ENSG00000083807.10	transcript	ENST00000263093.7	protein_coding	3/9			chr19	TogoVar
SLC35F3_chr1_233899676_234329511	234140002	A A	AATAAAAT others(201): Show AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA TAAAAAAAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	158	0.0063	208	c.284 others(227): Show c.284-91415_284-91414insATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAATAAAAAAAT	SLC35F3	ENSG00000183780.13	transcript	ENST00000366618.8	protein_coding	2/7			chr1	TogoVar
SLC45A4_chr8_141202174_141313288	141203446	A A	AGGGAGAG others(201): Show AGGGAGAGAGAGACCGTGGAGAGAGGGAGAGGGAGACCGTGGAGAGAGAG AGAGAGAGAGGGAGAGAGAGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAG GGAGAGAGGGAGAGGGAGAGAGGGAGAGAGGGAGAGAGAGGGAGAGGGAG AGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGAGAGAGAGGGAGAG AGGGAGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0005 a0005	a0005c0025 a0005c0025	a0005c0025t0024 a0005c0025t0024	a0005c0025t0024g0110 a0005c0025t0024g0110	1	188	0.0053	208	c.81 others(219): Show c.8125_*8126insCCTCTCCCTCTCTCCCTCTCTCTCTCTCTCCCTC TCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCCCTCTCTCTCCCTCTC TCCCTCTCTCCCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCC TCTCTCTCTCTCTCCCTCTCTCTCTCTCTCTCTCCACGGTCTCCCTCTCC CTCTCTCCACGGTCTCTCTCTCCC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3727		chr8	TogoVar
SLC8A1_chr2_40092270_40457090	40200177	T T	TATATATA others(201): Show TATATATATATATATTTATATATATATATAAATATATATATATATTTATA TATATATATAAATATATATATATATTTATATATATATATAAATATATATA TATATTTATATATATATATAAATATATATATATATTTATATATATATAAA TATATATATATATTTATATATATATATAAATATATATATATATTTATATA TATATATAA	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0140 a0001c0001t0140	a0001c0001t0140g0032 a0001c0001t0140g0032	1	236	0.0042	208	c.180 others(229): Show c.1809-21685_1809-21684insTTATATATATATATAAATATATAT ATATATTTATATATATATATAAATATATATATATATTTATATATATATAA ATATATATATATATTTATATATATATATAAATATATATATATATTTATAT ATATATATAAATATATATATATATTTATATATATATATAAATATATATAT ATATTTATATATATATATAAATATATATATATAT	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC8A1_chr2_40092270_40457090	40200192	T T	TTATATAT others(201): Show TTATATATATATATAAATATATATATATATTTATATATATATATAAATAT ATATATATATTTATATATATATATAAATATATATATATATTTATATATAT ATAAATATATATATATATTTATATATATATAAATATATATATATATTTAT ATATATATATAAATATATATATATATTTATATATATATATAAATATATAT ATATATTTA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0183 a0001c0001t0183	a0001c0001t0183g0232 a0001c0001t0183g0232	1	236	0.0042	208	c.180 others(229): Show c.1809-21700_1809-21699insTAAATATATATATATATTTATATA TATATATAAATATATATATATATTTATATATATATATAAATATATATATA TATTTATATATATATAAATATATATATATATTTATATATATATAAATATA TATATATATTTATATATATATATAAATATATATATATATTTATATATATA TATAAATATATATATATATTTATATATATATATA	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC8A1_chr2_40092270_40457090	40200194	A A	ATATATAT others(201): Show ATATATATATATAAATATATATATATATTTATATATATATATAAATATAT ATATATATTTATATATATATATAAATATATATATATATTTATATATATAT ATAAATATATATATATATTTATATATATATATAAATATATATATATATTT ATATATATATATAAATATATATATATATTTATATATATATATAAATATAT ATATATATT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0064 a0001c0001t0030g0064	1	236	0.0042	208	c.180 others(229): Show c.1809-21702_1809-21701insAATATATATATATATTTATATATA TATATAAATATATATATATATTTATATATATATATAAATATATATATATA TTTATATATATATATAAATATATATATATATTTATATATATATATAAATA TATATATATATTTATATATATATATAAATATATATATATATTTATATATA TATATAAATATATATATATATTTATATATATATA	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC9A3_chr5_465456_529449	495377	G G	GCTCCGCG others(201): Show GCTCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCCCCGCACCATCAC CGACCCTCCCCACGCTCCACTCCCCGCGCCATCGCCAACCCTCCCCACGC TCCACTCCCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCCCCGCGCC ATCGCCGACCCTCCCCACGCTCCACTCCCCGCGCCATCGCCGACCCTCCC CACGCTCCA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0188 a0001c0001t0033g0188	1	218	0.0046	208	c.212 others(225): Show c.212-3307_212-3306insTGGAGCGTGGGGAGGGTCGGCGATGGCG CGGGGAGTGGAGCGTGGGGAGGGTCGGCGATGGCGCGGGGAGTGGAGCGT GGGGAGGGTCGGCGATGGCGCGGGGAGTGGAGCGTGGGGAGGGTTGGCGA TGGCGCGGGGAGTGGAGCGTGGGGAGGGTCGGTGATGGTGCGGGGAGTGG AGCGTGGGGAGGGTCGGCGATGGCGCGGAG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A3_chr5_465456_529449	495377	G G	GCTCCGCG others(201): Show GCTCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCCCCGCGCCATCGC CGACCCTCCCCACGCTCCACTCCCCGCGCCATCGCCGACCCTCCCCACGC TCCACTCCCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCCCCGCGCC ATCGCCGACCCTCCCCACGCTCCACTCCCCGCGCCATCGCCGACCCTCCC CACGCTCCA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG02004.hp1 others(1): Show HG00099.hp2 HG00280.hp2 HG02004.hp1 NA18971.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0066 a0002c0002t0002g0005 a0002c0002t0002g0009 others(1): Show a0001c0001t0001g0066 a0002c0002t0002g0005 a0002c0002t0002g0009 a0002c0002t0002g0023	4	218	0.0184	208	c.212 others(225): Show c.212-3307_212-3306insTGGAGCGTGGGGAGGGTCGGCGATGGCG CGGGGAGTGGAGCGTGGGGAGGGTCGGCGATGGCGCGGGGAGTGGAGCGT GGGGAGGGTCGGCGATGGCGCGGGGAGTGGAGCGTGGGGAGGGTCGGCGA TGGCGCGGGGAGTGGAGCGTGGGGAGGGTCGGCGATGGCGCGGGGAGTGG AGCGTGGGGAGGGTCGGCGATGGCGCGGAG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A3_chr5_465456_529449	507780	A A	ACCCCACA others(201): Show ACCCCACAGACGCCCGAATCCCCACCCCGCAGACGCCCGAATCCTCACCC CGCAGACGCCCGAATCCCCACCCCGCAGACGCCCGAATCCTCACCCCGCA GACGCCCGAATCCCCACCCCGCAGACGCCCGAATCCCCACCCCGCAGACG CCCGAATCCCCACCCCACAGACGCCCGAATCCTCACCCCACAGACGCCCG AATCCCCAC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0003 a0002c0010t0003	a0002c0010t0003g0201 a0002c0010t0003g0201	1	218	0.0046	208	c.212 others(227): Show c.212-15710_212-15709insGTGGGGATTCGGGCGTCTGTGGGGTG AGGATTCGGGCGTCTGTGGGGTGGGGATTCGGGCGTCTGCGGGGTGGGGA TTCGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTGCGGGGTGAGGATTCG GGCGTCTGCGGGGTGGGGATTCGGGCGTCTGCGGGGTGAGGATTCGGGCG TCTGCGGGGTGGGGATTCGGGCGTCTGTGGGG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLIT2_chr4_20246905_20625561	20472555	G G	GATATATC others(201): Show GATATATCTATATAGATATAGATATATCTATATAGATATATATAGATATA TCTATATATATCGATATATATCGATATATATAGATATATCGATATATAGA TATATCTATATATATCGATATATATCGATATATCTATATATATCGATATA TATAGATATATCTATATATATCGATATATATAGATATATCGATATATATA GATATATCT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01256.hp1 HG01516.hp1 HG01070.hp1 HG01256.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0006 a0001c0002t0009 a0001c0001t0005 a0001c0001t0006 a0001c0002t0009	a0001c0001t0005g0057 a0001c0001t0006g0145 a0001c0002t0009g0102 a0001c0001t0005g0057 a0001c0001t0006g0145 a0001c0002t0009g0102	3	230	0.0130	208	c.467 others(225): Show c.467+4738_467+4739insCTATATAGATATAGATATATCTATATAG ATATATATAGATATATCTATATATATCGATATATATCGATATATATAGAT ATATCGATATATAGATATATCTATATATATCGATATATATCGATATATCT ATATATATCGATATATATAGATATATCTATATATATCGATATATATAGAT ATATCGATATATATAGATATATCTATATAT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMOC2_chr6_168436184_168672992	168560505	T T	TGAGGCTC others(201): Show TGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGA CACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGA GACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCT GAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCC CTGAGACAC	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	180	0.0056	208	c.637 others(227): Show c.637+11315_637+11316insTGTTCTCGGAGGAGGTGTCATTTTCC TGCCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTT CCTGCCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATT TTCCTGCCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCA TTTTCCTGCCCTGAGACACGAGGCTCTCACTG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560733	T T	TGGAGGAG others(201): Show TGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTT CTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTG TTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTG TGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCTCTCAC TGTGTTCTC	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	180	0.0056	208	c.637 others(227): Show c.637+11575_637+11576insTGTTCTCGGAGGAGGTGTCATTTTCC TGCCCTGAGACACGAGGCTCTCACTGTGTTCTTGGAGGAGGTGTCATTTT CCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATT TTCCTGCCCTGAGACACAAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCA TTTTCCTGCCCTGAGACACGAGGCTCTCACTG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560785	T T	TGGAGGAG others(201): Show TGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATT CTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTG TTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTG CATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCAC TGTGTTCTC	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	180	0.0056	208	c.637 others(227): Show c.637+11679_637+11680insTGTTCTCGGAGGAGGTGTCATTTTCC TGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTT CCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATT TTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCA TTTTCCTGCCCTGAGACACGAGGCTCTCACTG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560870	G G	GAGGCTCT others(201): Show GAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGAC ACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAG ACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTG AGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCC TGAGACACA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	180	0.0056	208	c.637 others(227): Show c.637+11679_637+11680insTGTTCTCGGAGGAGGTGTCATTTTCC TGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTT CCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATT TTCCTGCCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCA TTTTCCTGCCCTGAGACACAAGGCTCTCACTG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560910	A A	ACCCTGAG others(201): Show ACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTC CTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTT TCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCAT TTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTC ATTTTCCTG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	180	0.0056	208	c.637 others(227): Show c.637+11732_637+11733insGTTCTTGGAGGAGGTGTCATTTTCCT GCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC CTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTT TCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCAT TTTCCTGCCCTGAGACACGAGGCTCTCACTGC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560921	C C	CAAGGCTC others(201): Show CAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGA CACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGA GACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCT GAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCC CTGAGACGT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0013 a0001c0002t0002g0013	1	180	0.0056	208	c.637 others(227): Show c.637+11718_637+11719insAAGGCTCTCACTGCATTCTTGGAGGA GGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAG GAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGG AGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTC GGAGGAGGTGTCATTTTCCTGCCCTGAGACGT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560941	T T	TGGAGGAG others(201): Show TGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTT CTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTG TTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTG TGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCTCTCAC TGTGTTCTC	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	180	0.0056	208	c.637 others(227): Show c.637+11756_637+11757insCTGCCCTGAGACACGAGGCTCTCACT GTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCA CTGTGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCT CACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCT CTCACTGTGTTCTCGGAGGAGGTGTCATTTTC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561040	G G	GTTCTTGG others(201): Show GTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACT GTGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCA CTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCTCT CACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCT CTCACTGCA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	180	0.0056	208	c.637 others(227): Show c.637+11887_637+11888insTGTTCTTGGAGGAGGTGTCATTTTCC TGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTT CCTGCCCTGAGACACAAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATT TTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCA TTTTCCTGCCCTGAGACACGAGGCTCTCACTG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561097	T T	TGGAGGAG others(201): Show TGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTT CTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTG TTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTG TGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCAC TGTGTTCTC	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	180	0.0056	208	c.637 others(227): Show c.637+11912_637+11913insCTGCCCTGAGACACGAGGCTCTCACT GTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCA CTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCT CACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCT CTCACTGTGTTCTCGGAGGAGGTGTCATTTTC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561130	G G	GAGGCTCT others(201): Show GAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGAC ACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAG ACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTG AGATGTGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCC TGAGACACA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0149 a0001c0001t0003g0149	1	180	0.0056	208	c.637 others(227): Show c.637+11940_637+11941insATTCTTGGAGGAGGTGTCATTTTCCT GCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTC CTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTT TCCTGCCCTGAGATGTGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCAT TTTCCTGCCCTGAGACACAAGGCTCTCACTGC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561300	G G	GTTCTTGG others(201): Show GTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACT GTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCA CTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCT CACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCT CTCACTGCA	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0008 a0001c0002t0002g0008	1	180	0.0056	208	c.637 others(227): Show c.637+12199_637+12200insTGTTCTCGGAGGAGGTGTCATTTTCC TGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTT CCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATT TTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCA TTTTCCTGCCCTGAGACACGAGGCTCTCACTG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561390	G G	GAGGCTTT others(201): Show GAGGCTTTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGAC ACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAG ACACGAGGCTTTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTG AGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCC TGAGACACA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0045 a0001c0002t0008g0045	1	180	0.0056	208	c.637 others(227): Show c.637+12192_637+12193insTTCACTGCATTCTTGGAGGAGGTGTC ATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTG TCATTTTCCTGCCCTGAGACACGAGGCTTTCACTGCATTCTTGGAGGAGG TGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGA GGTGTCATTTTCCTGCCCTGAGACACAAGGCT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561409	T T	TGGAGGAG others(201): Show TGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTT CTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTG TTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTG TGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCAC TGTGTTCTC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01978.hp2 HG00738.hp1 HG01978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0023 a0001c0002t0002g0025 a0001c0002t0002g0023 a0001c0002t0002g0025	2	180	0.0111	208	c.637 others(227): Show c.637+12251_637+12252insTGTTCTCGGAGGAGGTGTCATTTTCC TGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTT CCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATT TTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCA TTTTCCTGCCCTGAGACACGAGGCTCTCACTG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561442	G G	GAGGCTCT others(201): Show GAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGAC ACAAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAG ACACGAGGCTCTCACTGTGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTG AGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCC TGAGACACA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	180	0.0056	208	c.637 others(227): Show c.637+12251_637+12252insTGTTCTCGGAGGAGGTGTCATTTTCC TGCCCTGAGACACAAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTT CCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTTGGAGGAGGTGTCATT TTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCA TTTTCCTGCCCTGAGACACAAGGCTCTCACTG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561669	C C	CGGAGGAG others(201): Show CGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTT CTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTG TTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTG TGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCAC TGCATTCTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0024 a0001c0002t0002g0024	1	180	0.0056	208	c.637 others(227): Show c.637+12511_637+12512insTGTTCTCGGAGGAGGTGTCATTTTCC TGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTT CCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATT TTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCA TTTTCCTGCCCTGAGACACGAGGCTCTCACTG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168562013	C C	CGAGGCTC others(201): Show CGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGA CACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGA GACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCT GAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCC CTGAGATGT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0149 a0001c0001t0003g0149	1	180	0.0056	208	c.637 others(227): Show c.637+12810_637+12811insGAGGCTCTCACTGTGTTCTCGGAGGA GGTGTCATTTTCCTGCCCTGAGACACAAGGCTCTCACTGCATTCTTGGAG GAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGG AGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTC GGAGGAGGTGTCATTTTCCTGCCCTGAGATGT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SMOC2_chr6_168436184_168672992	168562033	T T	TGGAGGAG others(201): Show TGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGTGTT CTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTG TTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCTCTCACTG CGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCAC TGTGTTCTC	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0008 a0001c0002t0002g0008	1	180	0.0056	208	c.637 others(227): Show c.637+12848_637+12849insATACCCTGAGACACGAGGCTCTCACT GTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCA CTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCTCT CACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCT CTCACTGTGTTCTCGGAGGAGGTGTCATTTTC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar

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Search Results (Total: 10000 hits)