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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
PPP1R14C_chr6_150138044_150255392	150167969	T T	TCTCCCCT others(651): Show TCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTC TCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCC CTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTC TCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCT CCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCT CCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCC CTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTC TTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTT CTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTC CCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCTCCT TCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCT TCTTCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTCCCCTTT CTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTC CTCCCCTTC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02451.hp1 HG02970.hp1 HG02258.hp2 HG02451.hp1 HG02970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0014 a0002c0002t0009 a0002c0002t0014	a0002c0002t0009g0240 a0002c0002t0014g0241 a0002c0002t0014g0242 a0002c0002t0009g0240 a0002c0002t0014g0241 a0002c0002t0014g0242	3	312	0.0096	658	c.306 others(677): Show c.306+24474_306+24475insCCCTTCTCTCCTCCCCTCTTTCTCCC CTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTT CTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCT CCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTC CCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCC CCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCT TTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTC TCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCC CCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCC TTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCT CTCCTCCCCCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCC TCCCCTCTTTCTCTCCTTCTTCTTCCCTCTTTCTCCCCTTCTCTCCTCCC CTCTTTCTCTCCTCCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCT CCCCTTTCTCCCCTTCTCTCCTCCCCTTCCTC	PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPP1R14C_chr6_150138044_150255392	150167969	T T	TCTCCCCT others(651): Show TCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCT CCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCT TCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCT CCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTC CCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTT TCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCC CCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCC TTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCT CTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTC CCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCC TTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCT CCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCT TCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTC CTCCCCTTC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	312	0.0032	658	c.306 others(677): Show c.306+24474_306+24475insCCCTTCTCTCCTCCCCTCTTTCTCTC CTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTC TCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCT CCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCC CTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTC TCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCC TTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCT CTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTC CTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCC CTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTT CTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCC CCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCT CTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCT CCCCTTTCTCCCCTTCTCTCCTCCCCTTCCTC	PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCNN1D_chr1_1275436_1297025	1289972	G G	GTCTCTGC others(651): Show GTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCC CGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0161 a0001c0001t0002g0161	1	290	0.0035	658	c.166 others(675): Show c.1663-296_1663-295insCTGCCCCGTCCCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCC GTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCC CGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCT	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDCCAG8_chr1_243251041_243505091	243480604	A A	ATGGATGG others(651): Show ATGGATGGATGGATGGGTGGATGGATGGATGGGTGGGTGGGATGGATGGG TGGATGGGTGGGATGGATGGATGGATGGGTGGGATGGATGGGGGATGGAT GGATGGGTGGGATGGATGGATGGATGGGTGGGATGGATGAATGGGGGATG GATGGATGGATGGGTGGGATGGATGGATGGGTGGGATGGATGGATGGATG GGTGGGATGGATGGATGGATGGGATGGATGGGTGGGATGGATGGATGGGT GGGTGGGATGGATGGGTGGATGGATGGATGGGTGGGATGGATGGATGGGT GGGATGGATGGATGGATGGTTGGGATGGATGGATGGATGGGTGGGATGGA TGGATGGATGGGTGGATGGATGGATGGGTGGTATGGATGGATGGGTGTGA TGGATGGATGGATGGGTGGGATGGATGGATGGATGGGTGGGATGGATGGA TGGGTGGGATGGATGGATGGATGGATGGATGGATGGGATGGATGAATGGG GGATGGATGGATGGGGGATGGATGGATGGATGGGTGGGATGGATGGATGG GTGGGATGGATGGATGGATGGATGGATGGATGGGTGGGATGGATGGATGG ATGGGTGGGATGGATGGATGGATGGGTGGATGGATGGGTGGGATGGATGG ATGGATGGG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01070.hp1 HG01071.hp2 others(48): Show HG00609.hp1 HG01070.hp1 HG01071.hp2 HG01175.hp1 HG01258.hp2 HG01261.hp1 HG01496.hp2 HG01891.hp1 HG01981.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02717.hp1 HG02735.hp1 HG02738.hp2 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03017.hp2 HG03139.hp2 HG03195.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG03669.hp2 HG03704.hp2 HG03942.hp1 HG04184.hp2 HG04228.hp1 NA18970.hp1 NA18982.hp1 NA19007.hp1 NA19043.hp1 NA19043.hp2 NA19068.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0009t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0004	a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0001g0042 others(48): Show a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0161 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0002t0002g0085 a0001c0009t0001g0188 a0002c0003t0001g0021 a0002c0003t0001g0130 a0002c0003t0001g0131 a0002c0003t0001g0132 a0002c0003t0001g0134 a0002c0003t0001g0136 a0002c0003t0001g0139 a0002c0003t0001g0142 a0002c0003t0001g0147 a0002c0003t0001g0149 a0002c0003t0001g0151 a0002c0003t0001g0158 a0002c0003t0001g0159 a0002c0003t0001g0160 a0002c0003t0001g0165 a0002c0003t0001g0167 a0002c0003t0001g0168 a0002c0003t0001g0169 a0002c0003t0001g0171 a0002c0003t0001g0173 a0002c0003t0001g0174 a0002c0003t0001g0175 a0002c0003t0001g0176 a0002c0003t0001g0180 a0002c0003t0002g0121 a0002c0003t0004g0135	51	189	0.2698	658	c.198 others(677): Show c.1986-8391_1986-8390insATGGATGGATGGGTGGGTGGGATGGA TGGGTGGATGGGTGGGATGGATGGATGGATGGGTGGGATGGATGGGGGAT GGATGGATGGGTGGGATGGATGGATGGATGGGTGGGATGGATGAATGGGG GATGGATGGATGGATGGGTGGGATGGATGGATGGGTGGGATGGATGGATG GATGGGTGGGATGGATGGATGGATGGGATGGATGGGTGGGATGGATGGAT GGGTGGGTGGGATGGATGGGTGGATGGATGGATGGGTGGGATGGATGGAT GGGTGGGATGGATGGATGGATGGTTGGGATGGATGGATGGATGGGTGGGA TGGATGGATGGATGGGTGGATGGATGGATGGGTGGTATGGATGGATGGGT GTGATGGATGGATGGATGGGTGGGATGGATGGATGGATGGGTGGGATGGA TGGATGGGTGGGATGGATGGATGGATGGATGGATGGATGGGATGGATGAA TGGGGGATGGATGGATGGGGGATGGATGGATGGATGGGTGGGATGGATGG ATGGGTGGGATGGATGGATGGATGGATGGATGGATGGGTGGGATGGATGG ATGGATGGGTGGGATGGATGGATGGATGGGTGGATGGATGGGTGGGATGG ATGGATGGATGGGTGGATGGATGGATGGGTGG	SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDCCAG8_chr1_243251041_243505091	243480604	A A	ATGGATGG others(651): Show ATGGATGGATGGATGGGTGGATGGATGGATGGGTGGGTGGGATGGATGGG TGGATGGGTGGGATGGATGGATGGATGGGTGGGATGGATGGGGGATGGAT GGATGGGTGGGATGGATGGATGGATGGGTGGGATGGATGAATGGGGGATG GATGGATGGATGGGTGGGATGGATGGATGGGTGGGATGGATGGATGGATG GGTGGGATGGATGGATGGATGGGATGGATGGGTGGGATGGATGGATGGGT GGGTGGGATGGATGGGTGGATGGATGGATGGGTGGGATGGATGGATGGGT GGGATGGATGGATGGATGGTTGGGATGGATGGATGGATGGGTGGGATGGA TGGATGGATGGGTGGATGGATGGATGGGTGGTATGGATGGATGGGTGTGA TGGATGGATGGATGGGTGGGATGGATGGATGGATGGGTGGGATGGATGGA TGGGTGGGATGGATGGATGGATGGATGGATGGGATGGATGAATGGGGGAT GGATGGATGGGGGATGGATGGATGGATGGGTGGGATGGATGGATGGGTGG GATGGATGGATGGATGGATGGATGGATGGATGGGTGGGATGGATGGATGG ATGGGTGGGATGGATGGATGGATGGGTGGATGGATGGGTGGGATGGATGG ATGGATGGG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG03704.hp1 others(2): Show HG02896.hp1 HG02897.hp2 HG03704.hp1 HG06807.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0001 a0001c0002t0002 a0002c0004t0001 a0001c0002t0001 a0001c0002t0002 a0002c0004t0001	a0001c0002t0001g0117 a0001c0002t0002g0029 a0001c0002t0002g0073 others(2): Show a0001c0002t0001g0117 a0001c0002t0002g0029 a0001c0002t0002g0073 a0002c0004t0001g0152 a0002c0004t0001g0154	5	189	0.0265	658	c.198 others(677): Show c.1986-8391_1986-8390insATGGATGGATGGGTGGGTGGGATGGA TGGGTGGATGGGTGGGATGGATGGATGGATGGGTGGGATGGATGGGGGAT GGATGGATGGGTGGGATGGATGGATGGATGGGTGGGATGGATGAATGGGG GATGGATGGATGGATGGGTGGGATGGATGGATGGGTGGGATGGATGGATG GATGGGTGGGATGGATGGATGGATGGGATGGATGGGTGGGATGGATGGAT GGGTGGGTGGGATGGATGGGTGGATGGATGGATGGGTGGGATGGATGGAT GGGTGGGATGGATGGATGGATGGTTGGGATGGATGGATGGATGGGTGGGA TGGATGGATGGATGGGTGGATGGATGGATGGGTGGTATGGATGGATGGGT GTGATGGATGGATGGATGGGTGGGATGGATGGATGGATGGGTGGGATGGA TGGATGGGTGGGATGGATGGATGGATGGATGGATGGGATGGATGAATGGG GGATGGATGGATGGGGGATGGATGGATGGATGGGTGGGATGGATGGATGG GTGGGATGGATGGATGGATGGATGGATGGATGGATGGGTGGGATGGATGG ATGGATGGGTGGGATGGATGGATGGATGGGTGGATGGATGGGTGGGATGG ATGGATGGATGGGTGGATGGATGGATGGGTGG	SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDCCAG8_chr1_243251041_243505091	243480604	A A	ATGGATGG others(651): Show ATGGATGGATGGATGGGTGGATGGATGGATGGGTGGGTGGGATGGATGGG TGGATGGGTGGGATGGATGGATGGATGGGTGGGATGGATGGGGGATGGAT GGATGGGTGGGATGGATGGATGGATGGGTGGGATGGATGAATGGGGGATG GATGGATGGATGGGTGGGATGGATGGATGGGTGGGATGGATGGATGGATG GGTGGGATGGATGGATGGATGGGATGGATGGGTGGGATGGATGGATGGGT GGGTGGGATGGATGGGTGGATGGATGGATGGGTGGGATGGATGGATGTGT GGGATGGATGGATGGATGGTTGGGATGGATGGATGGATGGGTGGGATGGA TGGATGGATGGGTGGATGGATGGATGGGTGGTATGGATGGATGGGTGTGA TGGATGGATGGATGGGTGGGATGGATGGATGGATGGGTGGGATGGATGGA TGGGTGGGATGGATGGATGGATGGATGGATGGATGGGATGGATGAATGGG GGATGGATGGATGGGGGATGGATGGATGGATGGGTGGGATGGATGGATGG GTGGGATGGATGGATGGATGGATGGATGGATGGGTGGGATGGATGGATGG ATGGGTGGGATGGATGGATGGATGGGTGGATGGATGGGTGGGATGGATGG ATGGATGGG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	189	0.0053	658	c.198 others(677): Show c.1986-8391_1986-8390insATGGATGGATGGGTGGGTGGGATGGA TGGGTGGATGGGTGGGATGGATGGATGGATGGGTGGGATGGATGGGGGAT GGATGGATGGGTGGGATGGATGGATGGATGGGTGGGATGGATGAATGGGG GATGGATGGATGGATGGGTGGGATGGATGGATGGGTGGGATGGATGGATG GATGGGTGGGATGGATGGATGGATGGGATGGATGGGTGGGATGGATGGAT GGGTGGGTGGGATGGATGGGTGGATGGATGGATGGGTGGGATGGATGGAT GTGTGGGATGGATGGATGGATGGTTGGGATGGATGGATGGATGGGTGGGA TGGATGGATGGATGGGTGGATGGATGGATGGGTGGTATGGATGGATGGGT GTGATGGATGGATGGATGGGTGGGATGGATGGATGGATGGGTGGGATGGA TGGATGGGTGGGATGGATGGATGGATGGATGGATGGATGGGATGGATGAA TGGGGGATGGATGGATGGGGGATGGATGGATGGATGGGTGGGATGGATGG ATGGGTGGGATGGATGGATGGATGGATGGATGGATGGGTGGGATGGATGG ATGGATGGGTGGGATGGATGGATGGATGGGTGGATGGATGGGTGGGATGG ATGGATGGATGGGTGGATGGATGGATGGGTGG	SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SHROOM2_chrX_9781429_9954443	9792159	T T	TAGAATAG others(651): Show TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	256	0.0039	658	c.165 others(675): Show c.165+5450_165+5451insGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SIGIRR_chr11_400716_419999	401812	C C	CCGCTCAC others(651): Show CCGCTCACCCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCG CTCACACCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCA CACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACC CGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGG CCCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCC GCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCA CACCCGCCCCGCTCACACCCGGCCCCGCTCACCCCCGGCCCCGCTCACAC CCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGG CCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCC CGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTC ACACCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACA CCCGCCCCGCTCACCCCCCGGCCCCGCTCACACCCGGCCCCGCTCACACC CGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCC CCGCTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	242	0.0041	658	c.40 others(669): Show c.4083_*4084insTGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTG AGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGC GGGGCCGGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGG GCCGGGGGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCG GGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGT GTGAGCGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGGGTG AGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCG GGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGGTGAGCGGGGC GGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGTGAGCGGGGCCGGGG GTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGA GCGGGGCCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCG GGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGG CGGGTGTGAGCGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCGGGT GTGAGCGGGGCCGGGGGGTGAGCG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3903		chr11	TogoVar
SLC25A41_chr19_6421037_6438763	6429376	G G	GGAAGGGA others(651): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAGGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGAGA AAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAGG GACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGA AGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGA GGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGA GGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGGG GAGGAGGAGAGAAGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAG AAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGAAGAGG AGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGA GGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGGAGGGGAGGAG GAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAAGAGTCCGGGAG GAGGAGGGA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	350	0.0029	658	c.624 others(673): Show c.624+347_624+348insTCCCTCCTCCTCCCGGACTCTTTCCTCTCC TCCTCCCCCTCCTTCCTCCTTTCTGCCTCCTCCTCCCCTCCTCCTTCCTC TCCTCCTCCTCCTCTCTTCCTTCCTCTCCTCCTCCCCTCTTCTCTCCTCC TCCCCTCCTTCCTCTCCTCCTCCTCCCCTCCTCTTCTCTCCTCCTCCCCT CCTTCCTCTCCTCCTCCTCCCCTCCTCTTCTCTCCTCCTCCCCTCCTCCT CTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCC TCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCTCCTTTCTCC CTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCTCCTTTCTCT TCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCTCCTCCCCTT TCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCTCCTCCCTTT CACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCCTCCCCTCAT CTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTATTCTCCCTCC TCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCCTTCCTCCTC CTCCTCTTTTCTCCCTCCACCTCCCTTC	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGAAGGG others(651): Show AGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGA AGGGAGGGGGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGG GGAGGAGGGAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGA GGGCAGAGGAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGA GAGGGGAGGGGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGG GGAAGGGGAGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGA GGGGAGGAGGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGA GGGGAGGGGAGGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGG GAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGGGGGAGGAGGGAGGGG GAGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGG AGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAG GGGAGGAGGGAGGGGGAGGGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGA GAGGGGAGGGGGGAGGGGGAGAGGGGAGAGGAGGGGGAGGGGGAGGGGTG GCGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02886.hp1 NA18747.hp1 others(2): Show HG02015.hp1 HG02886.hp1 NA18747.hp1 NA18983.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	5	352	0.0142	658	c.12 others(669): Show c.1218_*1219insCTCTCCCGCCACCCCTCCCCCTCCCCCTCCTCTC CCCTCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCC TTCCCCCCTCCCCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCC TCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCT TCCCCCCTTCCCCTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCCTCC CCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCC CCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCC CATCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCT CCCCTCCCCCTCCCCCTCCCCTTCCCCTCCTCTGCCCTCCCCTCCCCTCT CCCCGTCCCCCTTCCCCCTCCCCTCTCCTCTCCTCCTCACCCCTCCTCTC CCCTCTCCCTTCCCCTCCTCTGCCCTCCCCTCCCTCCTCCCCCTCTCCCC TCCTCTGCCCTCACCTCCCTCCTCCCCCTCTCCCCTCCCTGCCCTGCCCT CCCCTCCCCACCCTCCCCCCTCCCTTCCCCTTCCTTCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTCCCTTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1134		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGAAGGG others(651): Show AGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGA AGGGAGGGGGGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGG GGGAGGAGGGAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGG AGGGCAGAGGAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGG AGAGGGGAGGGGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAG GGGAAGGGGAGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGG AGGGGAGGAGGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAG AGGGGAGGGGAGGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGG GGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGGGGAGGAGGGAGGGG GAGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGG AGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAG GGGAGGAGGGAGGGGGAGGGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGA GAGGGGAGGGGGGAGGGGGAGAGGGGAGAGGAGGGGGAGGGGGAGGGGTG GCGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	352	0.0028	658	c.12 others(669): Show c.1218_*1219insCTCTCCCGCCACCCCTCCCCCTCCCCCTCCTCTC CCCTCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCC TTCCCCCCTCCCCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCC TCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCT TCCCCCCTTCCCCTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCTCCTCCC CCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCCC CCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCC ATCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCTC CCCTCCCCCTCCCCCTCCCCTTCCCCTCCTCTGCCCTCCCCTCCCCTCTC CCCGTCCCCCTTCCCCCTCCCCTCTCCTCTCCTCCTCACCCCTCCTCTCC CCTCTCCCTTCCCCTCCTCTGCCCTCCCCTCCCTCCTCCCCCTCTCCCCT CCTCTGCCCTCACCTCCCTCCTCCCCCTCTCCCCTCCCTGCCCTGCCCTC CCCTCCCCACCCTCCCCCCCTCCCTTCCCCTTCCTTCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTCCCTTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1134		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGGAGGG others(651): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGA AGGGAGGGGGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGG GGAGGAGGGAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGA GGGCAGAGGAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGA GAGGGGAGGGGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGG GGAAGGGGAGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGA GGGGAGGAGGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGA GGGGAGGGGAGGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGG GAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGGGGGAGGAGGGAGGGG GAGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGG AGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAG GGGAGGAGGGAGGGGGAGGGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGA GAGGGGAGGGGGGAGGGGGAGAGGGGAGAGGAGGGGGAGGGGGAGGGGTG GCGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	658	c.12 others(669): Show c.1218_*1219insCTCTCCCGCCACCCCTCCCCCTCCCCCTCCTCTC CCCTCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCC TTCCCCCCTCCCCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCC TCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCT TCCCCCCTTCCCCTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCCTCC CCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCC CCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCC CATCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCT CCCCTCCCCCTCCCCCTCCCCTTCCCCTCCTCTGCCCTCCCCTCCCCTCT CCCCGTCCCCCTTCCCCCTCCCCTCTCCTCTCCTCCTCACCCCTCCTCTC CCCTCTCCCTTCCCCTCCTCTGCCCTCCCCTCCCTCCTCCCCCTCTCCCC TCCTCTGCCCTCACCTCCCTCCTCCCCCTCTCCCCTCCCTGCCCTGCCCT CCCCTCCCCACCCTCCCCCCTCCCTTCCCCTTCCTTCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTCCCTCCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1134		chr19	TogoVar
SMOC2_chr6_168436184_168672992	168614186	C C	CACCTACA others(651): Show CACCTACAGCCAGCACAGGGCCTCTTCATACTTACAGCTTGCACAGGGCC TCTTTACATCTACAGCCAGCACAGGGCCTCTTCATACCTACAGCCAGCAC AGGGGGCCTCTTCACACCTACAGCCAGCACAGGACCTCTTCACACCTACA GCCAGCACAGGGGGCCTCTTCACACCTACAGCCAGCACAGGGGGCCTCTT CACACCTACAGCCAGCACAGGGCCTCTTCACACCTAAAGCCAGCACAGGG GGCCTCTTCACATTTACAGCCAGCACAGGGTCTCTTCATACTTACAGCCG GCACAGGGCCTCTTTACATCTACAGCCAGCACAGGACCTCTTCACACCTA CAGCCAGCACAGGGGGCCTCTTCACACCTACAGCCAGCACAGGGCCTCTT CATACCTACAGCCAGCACAGGGGGCCTCTTCACACCTACAGCCAGCACAG GGGACCTCTTCACACCTACAGCCAGCACAGGGCCTCTTCACACCTACAGC CAGCACAGGGCCCCTTCATACTTACAGCCGGCACAGGGCCTCTTTACATC TACAGCCGGCACAGGGCCTCTTCACACCTACAGCCAGCACAGGGCCTCTT CATACCTACAGCCAGCACAGGGCCTCTTCATACCTACAGCCAGCACAGGG CCTCTTTAT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	180	0.0056	658	c.907 others(675): Show c.907+5964_907+5965insGGCCTCTTCATACTTACAGCTTGCACAG GGCCTCTTTACATCTACAGCCAGCACAGGGCCTCTTCATACCTACAGCCA GCACAGGGGGCCTCTTCACACCTACAGCCAGCACAGGACCTCTTCACACC TACAGCCAGCACAGGGGGCCTCTTCACACCTACAGCCAGCACAGGGGGCC TCTTCACACCTACAGCCAGCACAGGGCCTCTTCACACCTAAAGCCAGCAC AGGGGGCCTCTTCACATTTACAGCCAGCACAGGGTCTCTTCATACTTACA GCCGGCACAGGGCCTCTTTACATCTACAGCCAGCACAGGACCTCTTCACA CCTACAGCCAGCACAGGGGGCCTCTTCACACCTACAGCCAGCACAGGGCC TCTTCATACCTACAGCCAGCACAGGGGGCCTCTTCACACCTACAGCCAGC ACAGGGGACCTCTTCACACCTACAGCCAGCACAGGGCCTCTTCACACCTA CAGCCAGCACAGGGCCCCTTCATACTTACAGCCGGCACAGGGCCTCTTTA CATCTACAGCCGGCACAGGGCCTCTTCACACCTACAGCCAGCACAGGGCC TCTTCATACCTACAGCCAGCACAGGGCCTCTTCATACCTACAGCCAGCAC AGGGCCTCTTTATACCTACAGCCAGCACAG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
TBCD_chr17_82747065_82950914	82764855	G G	GTGTGCTC others(651): Show GTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTC ATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTG CTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTT ACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTT GCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGT CTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGCTCATAG TCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTT TCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAA GCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGG GTGTCTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGCTC ATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTG CTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTT ACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTT GCGGGTGTC	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA18962.hp1 NA19240.hp1 HG03516.hp2 NA18962.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0006 a0001c0002 a0002c0006	a0001c0002t0029 a0002c0006t0021 a0001c0002t0029 a0002c0006t0021	a0001c0002t0029g0256 a0002c0006t0021g0139 a0002c0006t0021g0141 a0001c0002t0029g0256 a0002c0006t0021g0139 a0002c0006t0021g0141	3	318	0.0094	658	c.333 others(673): Show c.333+795_333+796insTGCTCATAGTCTGCTTTTCTTACAAGCTTG CGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTC TGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCT CATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCT GCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCT TACAAGCTTGCGGGTGTCTGTGCTCATAGTCTGCTTTTCTTACAAGCTTG CGGGTGTCTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTG TGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATA GTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTT TTCTTACAAGCTTGCGGGTGTCTGTGCTCATAGTCTGCTTTTCTTACAAG CTTGCGGGTGTCTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTC TGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCT CATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCT GCTTTTCTTACAAGCTTGCGGGTGTCTG	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	3/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TCF25_chr16_89868592_89916379	89908674	T T	TCCTCCCA others(651): Show TCCTCCCAGCTCCCACCTCCCTCCTCCCACCTCCCACCTCCCTCCTCCCA CCTCCCAGTTCCCGCCTCCCACCTCTCACCTCCCACCTCCCTCCTCCCAG TTCCCAGCTCCCAGCTCCCACCTCCCAGCTCCAACCTTCCAGCTCCCAGC TCCCACCTAGCAGCTCCCGGCTCCTGGCTCCCACCTCCCTCCTCCCACCT CCCACCTCCCAGCTCCCACCTCCCTCCTCCCACCTCCCACCTCCCTCCTC CCAGTTCCTACCTCCCATCTCCCAGCTCCCAGCTGCCACCTCCCAGCTTC TGCCTCCCTCCTCCCAGTTCCCACCTCCCAGCTCCCACCTCCCAGCTCCC GCCTCCCTCATCCTAGTTCCCACCTCCCAGCTCCCAGCTCCCTCCTCCCA CCTCCCACCTCCCTCCTTTCACCTCCCACCTGCCACCTCCCGCCTCCCAC CTTCCAGCTCCCGCCTCCCACCTTCCAGCTCCCGCCTCCCTCCTCCCAGT TCCCACCTCCCACCTCCCAGCTCCCACCTCCCAACTCCCTCCTCCCACCC CCCACCTCCCTCCTCCCAGTTTCCACCTCCCCGTTCCCACCTCCCACCTC CCTCCTCCCACCTCTCTCCTCCCACCTTCCAGTTCCCACCTCCTTCCTCG CAGTTCCCA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0056 a0007c0008t0001g0056	1	300	0.0033	658	c.179 others(677): Show c.1799+1372_1799+1373insTCCTCCCACCTCCCACCTCCCTCCTC CCACCTCCCAGTTCCCGCCTCCCACCTCTCACCTCCCACCTCCCTCCTCC CAGTTCCCAGCTCCCAGCTCCCACCTCCCAGCTCCAACCTTCCAGCTCCC AGCTCCCACCTAGCAGCTCCCGGCTCCTGGCTCCCACCTCCCTCCTCCCA CCTCCCACCTCCCAGCTCCCACCTCCCTCCTCCCACCTCCCACCTCCCTC CTCCCAGTTCCTACCTCCCATCTCCCAGCTCCCAGCTGCCACCTCCCAGC TTCTGCCTCCCTCCTCCCAGTTCCCACCTCCCAGCTCCCACCTCCCAGCT CCCGCCTCCCTCATCCTAGTTCCCACCTCCCAGCTCCCAGCTCCCTCCTC CCACCTCCCACCTCCCTCCTTTCACCTCCCACCTGCCACCTCCCGCCTCC CACCTTCCAGCTCCCGCCTCCCACCTTCCAGCTCCCGCCTCCCTCCTCCC AGTTCCCACCTCCCACCTCCCAGCTCCCACCTCCCAACTCCCTCCTCCCA CCCCCCACCTCCCTCCTCCCAGTTTCCACCTCCCCGTTCCCACCTCCCAC CTCCCTCCTCCCACCTCTCTCCTCCCACCTTCCAGTTCCCACCTCCTTCC TCGCAGTTCCCACCTCCCAGCTCCCACCTCCC	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TECPR1_chr7_98209624_98257232	98242993	C C	CCCACCCA others(651): Show CCCACCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCGCA CACCCACCCATCTGTCCATCTGCACACACCTTCCATCCATCCACACATAT ACCCACCTATCCATCTACCCATGCACTCACCCACCCACTCACTCACCCAT CCACACACCCACCCACACACCCATCCATCCACACACCCACCCACCCATCC ATCCACACATCCACCCACACATCCATCCATCCACCCATCCATACATCCAT CTGCACAACCACCCATCTGTCCATCTGCACATACCTTCCATTCATCCACA CATACACCCACCCACCCACTCACCCACCCATCCACACACCCATCCACCCA TCCACACACCCACCCACCCATCCATCCACACATCCACCCACACACCCATC CATCCATCCATCCGCACACCCACCCATCTGTCCATCTGCACACACCTTCC ATCCATCCACACATATACCCACCTATCCATCTACCCATGCACCCACCCAC CCACCCACTCACCCATCCACACACCCACCCACACACCCATCCATCCACAC AAACACCCACCCATCCATCCATCCACCCATCCATCCATCCATCTGCCCAC ACACCCACCCATCCACCCATCCATCCACACACCCACCTATCCATCCTTCT GCCCACACA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00438.hp1 others(91): Show HG00280.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG00673.hp2 HG00735.hp2 HG01074.hp1 HG01099.hp1 HG01109.hp2 HG01123.hp1 HG01243.hp1 HG01261.hp1 HG01358.hp2 HG01361.hp1 HG01516.hp1 HG01517.hp2 HG01891.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02273.hp1 HG02602.hp2 HG02738.hp2 HG02965.hp2 HG03041.hp2 HG03239.hp1 HG03492.hp2 HG03540.hp1 HG03704.hp1 HG03710.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp2 NA18939.hp2 NA18942.hp2 NA18946.hp1 NA18947.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18963.hp1 NA18964.hp2 NA18967.hp2 NA18968.hp1 NA18971.hp2 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18989.hp1 NA18998.hp2 NA18999.hp2 NA19004.hp1 NA19009.hp1 NA19011.hp2 NA19012.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp2 NA19067.hp2 NA19070.hp1 NA19081.hp2 NA19085.hp1 NA19087.hp2 NA19091.hp1 NA20300.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0008 a0009 a0013	a0001c0004 a0001c0029 a0002c0002 others(9): Show a0001c0004 a0001c0029 a0002c0002 a0002c0007 a0002c0014 a0002c0026 a0002c0027 a0002c0030 a0003c0005 a0008c0016 a0009c0028 a0013c0034	a0001c0004t0001 a0001c0004t0002 a0001c0004t0006 others(48): Show a0001c0004t0001 a0001c0004t0002 a0001c0004t0006 a0001c0004t0025 a0001c0004t0036 a0001c0004t0090 a0001c0004t0095 a0001c0004t0097 a0001c0004t0109 a0001c0004t0110 a0001c0004t0111 a0001c0004t0112 a0001c0029t0002 a0002c0002t0001 a0002c0002t0004 a0002c0002t0007 a0002c0002t0011 a0002c0002t0013 a0002c0002t0016 a0002c0002t0017 a0002c0002t0020 a0002c0002t0026 a0002c0002t0027 a0002c0002t0028 a0002c0002t0038 a0002c0002t0050 a0002c0002t0051 a0002c0002t0052 a0002c0002t0053 a0002c0002t0054 a0002c0002t0057 a0002c0002t0060 a0002c0002t0091 a0002c0002t0092 a0002c0002t0103 a0002c0007t0008 a0002c0007t0029 a0002c0014t0004 a0002c0014t0089 a0002c0026t0013 a0002c0027t0007 a0002c0030t0004 a0003c0005t0002 a0003c0005t0003 a0003c0005t0010 a0003c0005t0016 a0003c0005t0025 a0003c0005t0099 a0008c0016t0001 a0009c0028t0011 a0013c0034t0001	a0001c0004t0001g0004 a0001c0004t0001g0014 a0001c0004t0002g0165 others(86): Show a0001c0004t0001g0004 a0001c0004t0001g0014 a0001c0004t0002g0165 a0001c0004t0002g0267 a0001c0004t0002g0296 a0001c0004t0006g0264 a0001c0004t0025g0265 a0001c0004t0036g0237 a0001c0004t0036g0248 a0001c0004t0090g0268 a0001c0004t0095g0263 a0001c0004t0097g0280 a0001c0004t0109g0269 a0001c0004t0110g0301 a0001c0004t0111g0234 a0001c0004t0112g0266 a0001c0029t0002g0312 a0002c0002t0001g0279 a0002c0002t0001g0300 a0002c0002t0001g0306 a0002c0002t0001g0307 a0002c0002t0001g0308 a0002c0002t0004g0015 a0002c0002t0004g0228 a0002c0002t0004g0231 a0002c0002t0004g0240 a0002c0002t0004g0241 a0002c0002t0004g0251 a0002c0002t0004g0254 a0002c0002t0004g0259 a0002c0002t0004g0276 a0002c0002t0004g0303 a0002c0002t0004g0317 a0002c0002t0007g0258 a0002c0002t0007g0277 a0002c0002t0011g0216 a0002c0002t0011g0230 a0002c0002t0011g0275 a0002c0002t0011g0304 a0002c0002t0013g0246 a0002c0002t0013g0256 a0002c0002t0013g0257 a0002c0002t0013g0270 a0002c0002t0013g0311 a0002c0002t0016g0225 a0002c0002t0016g0291 a0002c0002t0017g0226 a0002c0002t0017g0232 a0002c0002t0017g0278 a0002c0002t0020g0249 a0002c0002t0020g0260 a0002c0002t0020g0261 a0002c0002t0020g0274 a0002c0002t0026g0262 a0002c0002t0026g0297 a0002c0002t0027g0222 a0002c0002t0027g0250 a0002c0002t0028g0224 a0002c0002t0028g0252 a0002c0002t0038g0305 a0002c0002t0050g0313 a0002c0002t0051g0245 a0002c0002t0052g0298 a0002c0002t0053g0223 a0002c0002t0054g0253 a0002c0002t0057g0302 a0002c0002t0060g0271 a0002c0002t0091g0208 a0002c0002t0092g0255 a0002c0002t0103g0309 a0002c0007t0008g0210 a0002c0007t0029g0229 a0002c0007t0029g0233 a0002c0014t0004g0215 a0002c0014t0089g0281 a0002c0026t0013g0272 a0002c0027t0007g0227 a0002c0030t0004g0273 a0003c0005t0002g0294 a0003c0005t0002g0295 a0003c0005t0002g0299 a0003c0005t0003g0242 a0003c0005t0010g0016 a0003c0005t0016g0292 a0003c0005t0025g0243 a0003c0005t0099g0289 a0008c0016t0001g0293 a0009c0028t0011g0244 a0013c0034t0001g0211	94	346	0.2717	658	c.657 others(673): Show c.657+473_657+474insTGTGTGGGCAGAAGGATGGATAGGTGGGTG TGTGGATGGATGGGTGGATGGGTGGGTGTGTGGGCAGATGGATGGATGGA TGGGTGGATGGATGGATGGGTGGGTGTTTGTGTGGATGGATGGGTGTGTG GGTGGGTGTGTGGATGGGTGAGTGGGTGGGTGGGTGGGTGCATGGGTAGA TGGATAGGTGGGTATATGTGTGGATGGATGGAAGGTGTGTGCAGATGGAC AGATGGGTGGGTGTGCGGATGGATGGATGGATGGGTGTGTGGGTGGATGT GTGGATGGATGGGTGGGTGGGTGTGTGGATGGGTGGATGGGTGTGTGGAT GGGTGGGTGAGTGGGTGGGTGGGTGTATGTGTGGATGAATGGAAGGTATG TGCAGATGGACAGATGGGTGGTTGTGCAGATGGATGTATGGATGGGTGGA TGGATGGATGTGTGGGTGGATGTGTGGATGGATGGGTGGGTGGGTGTGTG GATGGATGGGTGTGTGGGTGGGTGTGTGGATGGGTGAGTGAGTGGGTGGG TGAGTGCATGGGTAGATGGATAGGTGGGTATATGTGTGGATGGATGGAAG GTGTGTGCAGATGGACAGATGGGTGGGTGTGCGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGGTGG	TECPR1	ENSG00000205356.10	transcript	ENST00000447648.7	protein_coding	6/25			chr7	TogoVar
TLL2_chr10_96359608_96518926	96415729	G G	GTCTCTCT others(651): Show GTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGT CTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCT CTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCT CTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCT GTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCT CTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCT GTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTTTCT CTCTCTGTCTCTCTCTCTCTCTCTTGTCTCTCTCTCTCTCTCTCTGTCTC TTTCCTCTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTTTCTCTCTGTCT CTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCT CTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCT CTCTGTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCT CTCTGTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTCTCTCTGTCTCTCT CTCTCTGTC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0241 a0002c0004t0003g0241	1	256	0.0039	658	c.924 others(675): Show c.924-2414_924-2413insGACAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGA GACAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAAAGAGACAGA GAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAGAGAGAAAGAGA CAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGACAGAGAGAAAGAGACA GAGAGAGACAGAGAGAGAGAGAGAGAGGAAAGAGACAGAGAGAGAGAGAG AGAGACAAGAGAGAGAGAGAGAGACAGAGAGAGAAAGAGACAGAGAGAGA GAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAGAGACA GAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGA GACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGA GAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACA GAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGA GAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGACAGA GAGAGAGAGAGAGAGAGAGACAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96415729	G G	GTCTCTCT others(651): Show GTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGT CTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCT CTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCT CTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGT CTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCT CTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCT GTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTTTCT CTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTGTCT CTTTCTCTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTTTCTCTCTGTCT CTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCT CTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCT CTCTGTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCT CTCTGTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTCTCTCTGTCTCTCT CTCTCTGTC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0075 a0001c0001t0005g0075	1	256	0.0039	658	c.924 others(675): Show c.924-2414_924-2413insGACAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGA GACAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAAAGAGACAGA GAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAGAGAGAAAGAGA CAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGACAGAGAGAAAGAGACA GAGAGAGACAGAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGA GAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAAAGAGACAGAGAGAGA GAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAGAGACA GAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGA GACAGAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGA GAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACA GAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGA GAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGACAGA GAGAGAGAGAGAGAGAGAGACAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96415729	G G	GTCTCTCT others(651): Show GTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGT CTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCT CTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCT CTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGT CTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCT CTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTGT CTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTTTCTCT CTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTGTCTCT TTCTCTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTTTCTCTCTGTCTCT CTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCT CTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCT CTGTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCT CTCTGTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTCTCTCTGTCTCTCT CTCTCTGTC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0133 a0001c0001t0002g0133	1	256	0.0039	658	c.924 others(675): Show c.924-2414_924-2413insGACAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGA GACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAAAGAGACA GAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAGAGAGAAAGA GACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGACAGAGAGAAAGAGA CAGAGAGAGACAGAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGA GAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAAAGAGACAGAGAGA GAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAGAGA CAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGA GAGACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGA GAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACA GAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGA GAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGACAGA GAGAGAGAGAGAGAGAGAGACAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96415739	G G	GTCTCTCT others(651): Show GTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCT GTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTGTCT CTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCT CTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCT GTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCT CTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCT CTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTTTCTCTCTCTGTCTCT CTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCT CTCTCTCTCTGTCTCTCTCTGTCTCTTTCTCTCTGTCTCTCTCTGTCTCT TTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTCTCTCTGT CTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTGT CTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCT CTCTCTCTGTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCT CTCTCTGTC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG03831.hp2 HG04199.hp2 others(2): Show HG00408.hp1 HG03831.hp2 HG04199.hp2 NA18998.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0004 a0001c0001t0001 a0001c0001t0002 a0001c0002t0004	a0001c0001t0001g0044 a0001c0001t0001g0137 a0001c0001t0002g0039 others(2): Show a0001c0001t0001g0044 a0001c0001t0001g0137 a0001c0001t0002g0039 a0001c0001t0002g0100 a0001c0002t0004g0151	5	256	0.0195	658	c.924 others(675): Show c.924-2424_924-2423insGACAGAGAGAGAGACAGAGAGAGAGAGA CAGAGAGAGAGACAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGA GAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGA GAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGACAGA GAGAAAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAGAAAGAGACAGA GAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAAAGA GACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGA GAGAGAGAGACAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGA GAGACAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGACAGA GAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGA GAGACAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGA GAGAGACAGAGAGAGAGAGAGAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96415739	G G	GTCTCTCT others(651): Show GTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCT GTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTGTCT CTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCT CTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCT GTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCT CTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCT CTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTTTCTCTCTCTGTCTCT CTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCT CTCTCTCTCTGTCTCTCTCTGTCTCTTTCTCTCTGTCTCTCTCTGTCTCT TTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTCTCTCTGT CTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTGT CTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCT CTCTCTCTGTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCT CTCTCTGTC	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0108 a0001c0001t0022g0108	1	256	0.0039	658	c.924 others(675): Show c.924-2424_924-2423insGACAGAGAGAGAGACAGAGAGAGAGAGA CAGAGAGAGAGACAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGAGACAGAGACAGAGACAGAGAGAGAGA GAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGA GAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGACAGA GAGAAAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAGAAAGAGACAGA GAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAAAGA GACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGA GAGAGAGAGACAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGA GAGACAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGACAGA GAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGA GAGACAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGA GAGAGACAGAGAGAGAGAGAGAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TMEM120B_chr12_121707752_121787068	121747979	G G	GCTGGGGT others(651): Show GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGG GTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG CGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC ACTGGGATAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAG TCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCG GGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTG GGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAA GGCGGGAGT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0309 a0002c0002t0008g0309	1	314	0.0032	658	c.189 others(673): Show c.189-334_189-333insCGGGAGGCTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC ACTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCACTGGGATAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGG CGGGAGTCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGG AGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCACTGGG GTAGAAGGCGGGAGTCTGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMPRSS9_chr19_2355265_2431261	2377592	C C	CTCTCCCC others(651): Show CTCTCCCCTCCCCTCTCCCCCCGTCTCCCCTCTCCTCTGTCCCCTCCCCT CTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTTT CCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCT CCCCTCTCCCCTCTCCCCTCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC TCCCCTCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTC CCCTCCCCCTCCCCTCTCCCCTCCCCCCTCTCCCCTCTCCCCTACCCTCT CCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCT CCCCTTCTCTCTCCTCCCCTCCTCTCTCTTCCCCTCTCCTCCCCTCTCTC CTCTCCTCCCCTCTCCTCCCCTCTCCCCTCTCCCCTCTCCTCTCTCCTCC CCTCTCCCCTCCCCTCGCCCTTCCCCTCCCCTCGCCCTTCCCCTCTTCCC TCCCCTCTCCCCTCTCCCCTCCCCTCCCATCTCCCCTCTCATCTCCCCTC TCCCCTCCTCTCCCCTTCCCTCCCGTCCCCTCTCCCCTTCCCTCCCCTCC CCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCCC CCTCCCCCT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0014 a0014	a0014c0026 a0014c0026	a0014c0026t0002 a0014c0026t0002	a0014c0026t0002g0102 a0014c0026t0002g0102	1	114	0.0088	658	c.-25 others(677): Show c.-25-12167_-25-12166insTCCCCTCCCCTCTCCCCCCGTCTCCC CTCTCCTCTGTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCC CTCCCCTCTCCCCTCCCCTTTCCCCTCTCCCCTCCCCTCTCCCCTCTCCC CTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCCCCCCTCCCC TCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCTCCCCTCCCCCCT CTCCCCTCTCCCCTACCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCC CTCCCCTCTCCCCTCTCCCCTCCCCTTCTCTCTCCTCCCCTCCTCTCTCT TCCCCTCTCCTCCCCTCTCTCCTCTCCTCCCCTCTCCTCCCCTCTCCCCT CTCCCCTCTCCTCTCTCCTCCCCTCTCCCCTCCCCTCGCCCTTCCCCTCC CCTCGCCCTTCCCCTCTTCCCTCCCCTCTCCCCTCTCCCCTCCCCTCCCA TCTCCCCTCTCATCTCCCCTCTCCCCTCCTCTCCCCTTCCCTCCCGTCCC CTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCC CCTTCCCTCCCCTCCCCTCCCCCTCCCCCTTC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TOX_chr8_58800412_59124147	59092275	A A	ATATTATA others(651): Show ATATTATATATACATTATATATATATATATTATATATACATTATATATAT ATATATTATATATACATTATATATATATATTATATATACATTATATATAT ATATTATATATACATTATATATATATATTATATATACATTATATATATAT ATATTATATATACATTATATATATATATTATATATACATTATATATATAT ATACATTATATATATATTATATATACATTATATATATATATTATATATAC ATTATATATATATATTATATATACATTATATATATATATTATATATACAT TATATATATATATTATATATACATTATATATATATTATATATACATTATA TATATATTATATATACATTATATATATATTATATATACATTATATATATA TATTATATATACATTATATATATATATTATATATACATTATATATATTAT ATATTATATATACATTATATATATTATATATTATATATACATTATATATA TCATATATTATATATACATTATATATATCATATATTATATATACATTATA TATATTATATATTATATATACATTATATATATTATATATTATATATACAT TATATATATTATATATTATATATACATTATATATTATATATTATATATAC ATTATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0188 a0001c0001t0003g0188	1	224	0.0045	658	c.102 others(677): Show c.102+26610_102+26611insATATATAATGTATATATAATATATAA TATATAATGTATATATAATATATAATATATATAATGTATATATAATATAT AATATATATAATGTATATATAATATATAATATATATAATGTATATATAAT ATATGATATATATAATGTATATATAATATATGATATATATAATGTATATA TAATATATAATATATATAATGTATATATAATATATAATATATATAATGTA TATATAATATATATATATAATGTATATATAATATATATATATAATGTATA TATAATATATATATAATGTATATATAATATATATATAATGTATATATAAT ATATATATAATGTATATATAATATATATATATAATGTATATATAATATAT ATATATAATGTATATATAATATATATATATAATGTATATATAATATATAT ATATAATGTATATATAATATATATATAATGTATATATATATATAATGTAT ATATAATATATATATATAATGTATATATAATATATATATATATAATGTAT ATATAATATATATATATAATGTATATATAATATATATATATAATGTATAT ATAATATATATATATAATGTATATATAATATATATATATATAATGTATAT ATAATATATATATATATAATGTATATATAATA	TOX	ENSG00000198846.6	transcript	ENST00000361421.2	protein_coding	1/8			chr8	TogoVar
TP53AIP1_chr11_128930370_128947871	128930770	C C	CTGGGGTT others(651): Show CTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGACCAAG GGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTT AGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGG AGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGC CGGGGTTAGAGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGG GATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTA GGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGG AGGCCGGGGTTAGAGAGGCCAGGGGTTAGGGAGGCCAGGGTAGGGAGGCT GGGGGTTAGGAAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGG GGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTA GAGAGGCCAGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTTAGGG AGGCCAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGC CGGGGTTAGGGAGGCCGGGGTTATGGAGGCAGGGATTATGGAGGCAGGGA TTAGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	466	0.0022	658	c.48 others(669): Show c.4820_*4821insCCTCCCTAATCCCTGCCTCCATAATCCCTGCCTC CATAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAA CCCCAGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCC TGGCCTCCCTAACCCCTGGCCTCTCTAACCCCGGCCTCCCTAACCCCGGC CTCCCTAACCCCGGCCTCCCTAACCCCTGGCCTCCCTGACCCTTGGTCTC CCTAACCCCGGCCTTCCTAACCCCCAGCCTCCCTACCCTGGCCTCCCTAA CCCCTGGCCTCTCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCC TGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCCCTAACCCCGGC CTCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTC CCTAACCCCGGCCTCTCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAA CCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCC CGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCC TCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCAGCCTCC CTAACCCCGGCCTCCCTAACCCCA	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4599		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273323	T T	TTATATAT others(651): Show TTATATATATATTATATATATAAAAATTATATATATATTATATATATATA AAAATTATATATATATTATATATATATAAAAATTATATATATATTATATA TATATAAAAATTATATATATATTATATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATAAAAATTATATATAT TATATATATAAAAATTATATATATATTATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATTATATATATATAAAAATTATATATAT ATTATATATATAAAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATTATATATATATAAAAA TTATATATATTATATATATATAAAAATTATATATATATTATATATATATA AAAATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	272	0.0037	658	c.28 others(669): Show c.2888_*2889insTATATATATATTATATATATAAAAATTATATATA TATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTA TATATATATTATATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATAAAAATTATATATATATTATATAT AAAAATTATATATATTATATATATAAAAATTATATATATATTATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATTATATATATAT AAAAATTATATATATATTATATATATAAAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATT ATATATATATAAAAATTATATATATTATATATATATAAAAATTATATATA TATTATATATATATAAAAATTATA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2210		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273358	T T	TTATATAT others(651): Show TTATATATATAAAAATTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATAAAAATTATATATATTATATATATAAAAATTA TATATATATTATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATATTATATATAT ATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTAT ATATATATAAAAATTATATATATATTATATATATATAAAAATTATATATA TATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTA TATATATATTATATATATAAAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATAAAAATTATATATATAATATATAT ATAAAAATTATATATATAATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTGTATATATATAAAAATTATATATATA TTGTATATATATAAAAATTATATATATATTGTATATATATAAAAATTATA TATATATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	272	0.0037	658	c.29 others(669): Show c.2923_*2924insTATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATATTATATATAAAAATTATATATATTA TATATATAAAAATTATATATATATTATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATTATATATATATAAAAATTATATATATATTATATATATATAAAAA TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATAAAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATAATATATATATAAAAATTATATATATAATATATATATAAAAATT ATATATATATTATATATATATAAAAATTATATATATATTGTATATATATA AAAATTATATATATATTGTATATATATAAAAATTATATATATATTGTATA TATATAAAAATTATATATATATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2245		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273429	T T	TTATATAT others(651): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATATTATATATACATAAAAATTATATAT ATATTATATATACATAAAAATTATATATATATTATATATATATAAAAATT ATATATATAATATATATATATAAAAATTATATATATATATTATATATATA TAAAAATTATATATATATATTATATATATATAAAAATTATATATATATAT TATATATATATAAAAATTATATATATATATTATATATATATAAAAATTAT ATATATATATTATATATATATAAAAATTATATATATATATTATATATATA TAAAAATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0026 a0001c0003t0001g0026	1	272	0.0037	658	c.29 others(669): Show c.2994_*2995insTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATATTATATATAC ATAAAAATTATATATATATTATATATACATAAAAATTATATATATATTAT ATATATATAAAAATTATATATATAATATATATATATAAAAATTATATATA TATATTATATATATATAAAAATTATATATATATATTATATATATATAAAA ATTATATATATATATTATATATATATAAAAATTATATATATATATTATAT ATATATAAAAATTATATATATATATTATATATATATAAAAATTATATATA TATATTATATATATATAAAAATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2316		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273429	T T	TTATATAT others(651): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATATTATATATATATAAAAATTATATAT ATATTATATATATATAAAAATTATATATATATTATATATATATAAAAATT ATATATATATTATATATATATAAAAATTATATATATATAATATATATATA TAAAAATTATATATATATATTATATATATATAAAAATTATATATATATAT TATATATATATAAAAATTATATATATATATTATATATATATAAAAATTAT ATATATATATTATATATATATAAAAATTATATATATATATTATATATATA TAAAAATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	272	0.0037	658	c.29 others(669): Show c.2994_*2995insTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATATTATATATAT ATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTAT ATATATATAAAAATTATATATATATTATATATATATAAAAATTATATATA TATAATATATATATATAAAAATTATATATATATATTATATATATATAAAA ATTATATATATATATTATATATATATAAAAATTATATATATATATTATAT ATATATAAAAATTATATATATATATTATATATATATAAAAATTATATATA TATATTATATATATATAAAAATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2316		chr11	TogoVar
TRIML1_chr4_188134441_188152743	188152398	A A	AGGTGAGG others(651): Show AGGTGAGGGGTGAGAGGGGAGTGAGAGTGGGGGTTGAGAAGGGGAGTGAG AGAGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGGAGTGAGAGA GGGGGTGAGAAGGGAAGGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAG GAGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGG GGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGG GTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGGT GAGAAGGGGGAGTGAGAGAGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGA GAAGCGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGAGGGTG AGAAGGGGTGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGGTT GAGAAGGGGAGTGAGAGTTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTG AGAAGGGGAGTGAGAGTCGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAG AAGGGGAGTGAGAGAGGGGGGTGAGAAGGGGAGTGAGAGTGGGGGGTGAG AAGGGGAGTGAGAGAGGGGGTGAGAAGGGAAGTGAGAGTGGGGGGTTGAG AAGGGGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0070 a0001c0001t0003g0070	1	228	0.0044	658	c.50 others(669): Show c.5026_*5027insGGTGAGGGGTGAGAGGGGAGTGAGAGTGGGGGTT GAGAAGGGGAGTGAGAGAGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGA AGGGGGAGTGAGAGAGGGGGTGAGAAGGGAAGGTGAGAGTGGGGGTGAGA AGGGGAGTGAGAGAGGAGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAA GGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGG GGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGG AGTGAGAGAGGGGGTGAGAAGGGGGAGTGAGAGAGGGGTGAGAAGGGGAG TGAGAGTGGGGGTGAGAAGCGGAGTGAGAGTGGGGGTGAGAAGGGGAGTG AGAGTGGGGAGGGTGAGAAGGGGTGAGTGAGAGTGGGGGTGAGAAGGGGA GTGAGAGAGGGGGTTGAGAAGGGGAGTGAGAGTTGGGGGTGAGAAGGGGA GTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTCGGGGTGAGAAGGGGAGT GAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGGGTGAGAAGGGGAGTG AGAGTGGGGGGTGAGAAGGGGAGTGAGAGAGGGGGTGAGAAGGGAAGTGA GAGTGGGGGGTTGAGAAGGGGTGT	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4656		chr4	TogoVar
TWIST2_chr2_238843085_238915534	238870128	A A	ACACCACA others(651): Show ACACCACACAAACCACACACCCCACACACACCACACACACCACACCCCAC ACACACCACACACCCCACACACACCACACACCCCCCCACACCACACCCCA TACACACCACACACCACACCCCACACACACCACACCCCACACACACCACA CCCCACACACACCACACACCCCACACACACCACACCCCACACACACCACA CACCCCCCACACACCACACCCCATACACACCACACACCACACCCCACACA CACCACACCCCACACACACCACACACCCCACACACACCACACCCCACACA CACCACACACCCCCCACACACCACACCCCATACACACCACACACCACACC CCACACACACCACACCCCACACACACCACACCCCACACACACCACACACC CCCCACACACCACACCCCACACACACCACACACCCCCCACACACCACACA CCATACACACCACACCCCACACACACCACACCCCCCACACACCACACCCC ACACACCACACCCCACACACACCACACACCACACACACCACACCCCATAC ACACCACACCCCATACACACCACACCCCACACACACCACACCCCACACAC CACACACCCCACACACACCACACCCCACACACACCACACCCCACACACAC CACACCCCC	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	338	0.0030	658	c.35 others(677): Show c.35+21398_*35+21399insCACACAAACCACACACCCCACACACA CCACACACACCACACCCCACACACACCACACACCCCACACACACCACACA CCCCCCCACACCACACCCCATACACACCACACACCACACCCCACACACAC CACACCCCACACACACCACACCCCACACACACCACACACCCCACACACAC CACACCCCACACACACCACACACCCCCCACACACCACACCCCATACACAC CACACACCACACCCCACACACACCACACCCCACACACACCACACACCCCA CACACACCACACCCCACACACACCACACACCCCCCACACACCACACCCCA TACACACCACACACCACACCCCACACACACCACACCCCACACACACCACA CCCCACACACACCACACACCCCCCACACACCACACCCCACACACACCACA CACCCCCCACACACCACACACCATACACACCACACCCCACACACACCACA CCCCCCACACACCACACCCCACACACCACACCCCACACACACCACACACC ACACACACCACACCCCATACACACCACACCCCATACACACCACACCCCAC ACACACCACACCCCACACACCACACACCCCACACACACCACACCCCACAC ACACCACACCCCACACACACCACACCCCCCAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
ULK1_chr12_131889622_131928150	131917081	C C	CTCGGAGG others(651): Show CTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGACGGGGGTCGGGGG GAGCTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGATGGGGCTCGG AGGCTGTGGGACGGGGGTCGGAGGCTGTGGGATGGGGCTCGAGGCTGTGG GACGGGGGTCGGAGGCTGTGGGATGGGGCTCGAGGCTGTGGGACGGGGGT CGGGTTCGGCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGG GCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGACGGGGGTCGGAG GCTGTGGGATGGGGCTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGG ATGGGGCTCGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGATGGGGCTC GAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGC TCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGCTCGGAGGC TGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGAT GGGGGTTGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGATGGGGCTCG AGGCTGTGGGATGGGGGTTGGAGGCTGTGGGATGGGGCTCGGAGGCTGTG GGATGGGGG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0170 a0001c0006t0003g0170	1	344	0.0029	658	c.218 others(673): Show c.2182+34_2182+35insCGGGGGTCGGAGGCTGTGGGACGGGGGTCG GGGGGAGCTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGATGGGGC TCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGATGGGGCTCGAGGCT GTGGGACGGGGGTCGGAGGCTGTGGGATGGGGCTCGAGGCTGTGGGACGG GGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGA TGGGGCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGACGGGGGTC GGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGACGGGGGTCGGAGGCTG TGGGATGGGGCTCGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGATGGG GCTCGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATG GGGCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGCTCGG AGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTG GGATGGGGGTTGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGATGGGG CTCGAGGCTGTGGGATGGGGGTTGGAGGCTGTGGGATGGGGCTCGGAGGC TGTGGGATGGGGGTCGGAGGCTGTGGGA	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
VIPR2_chr7_159023175_159149867	159129257	C C	CTGGACTC others(651): Show CTGGACTCTGGTGGGGACAGGGCCAGGTGACCAGCTTCACACTCTGTTCC CTCAAACTGGCCTCTGGGGGGGACAGGGCTGGGGGGACAGGGCCAGGTGA CCAGCTTCACACTCTGTTCCCTCAAACTGGACTCTGGTGGGGACAGGGCC AGGTGACCAGCTTCACACTCTGTTCCCTCAAACTGGACTCTGGTGGGGAC AGGGCCAGGTGACCAGCTTCACACTCTGTTCCCTCAAACTGGCCTCTGGG GGGGACAGGGCTGGGGGGACAGGGCCAGGTGACCAGCTTCACACTCTGTT CCCTCAAACTGGACTCTGGTGGGGACAGGGCCAGGTGACCAGCTTCACAC TCTGTTCCCTCAAACTGGCCTCTGGGGAGGACAGGGCTGGGGGGACAGGG CCAGGTGACCAGCTTCACACTCTGTTCCCTCAAACTGGACTCTGGTGGGG ACAGGGCCAGGTGACCAGCTTCACACTCTGTTCCCTCAAACTGGCCTCTG GGGGGGACAGGGCCAGGTGACCAGCTTCACACTCTGTTCCCTCAAACTGG ACTCTGGTGGGGACAGGGTCAGGTGACCAGCTTCACACTCTGTTCCCTCA AACTGGACTCTGGTGGGGACAGGGCCAGGTGACCAGCTTCACACTCTGTT CCCTCAAAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0047 a0001c0005t0047	a0001c0005t0047g0327 a0001c0005t0047g0327	1	336	0.0030	658	c.151 others(677): Show c.151+13188_151+13189insATTTGAGGGAACAGAGTGTGAAGCTG GTCACCTGGCCCTGTCCCCACCAGAGTCCAGTTTGAGGGAACAGAGTGTG AAGCTGGTCACCTGACCCTGTCCCCACCAGAGTCCAGTTTGAGGGAACAG AGTGTGAAGCTGGTCACCTGGCCCTGTCCCCCCCAGAGGCCAGTTTGAGG GAACAGAGTGTGAAGCTGGTCACCTGGCCCTGTCCCCACCAGAGTCCAGT TTGAGGGAACAGAGTGTGAAGCTGGTCACCTGGCCCTGTCCCCCCAGCCC TGTCCTCCCCAGAGGCCAGTTTGAGGGAACAGAGTGTGAAGCTGGTCACC TGGCCCTGTCCCCACCAGAGTCCAGTTTGAGGGAACAGAGTGTGAAGCTG GTCACCTGGCCCTGTCCCCCCAGCCCTGTCCCCCCCAGAGGCCAGTTTGA GGGAACAGAGTGTGAAGCTGGTCACCTGGCCCTGTCCCCACCAGAGTCCA GTTTGAGGGAACAGAGTGTGAAGCTGGTCACCTGGCCCTGTCCCCACCAG AGTCCAGTTTGAGGGAACAGAGTGTGAAGCTGGTCACCTGGCCCTGTCCC CCCAGCCCTGTCCCCCCCAGAGGCCAGTTTGAGGGAACAGAGTGTGAAGC TGGTCACCTGGCCCTGTCCCCACCAGAGTCCA	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	2/12			chr7	TogoVar
VSIG4_chrX_66016738_66045080	66037121	A A	AATATATA others(651): Show AATATATAATATATATAATATATATAATATAATATAATGCAATATATAAT AATTATATAATATAATATATAATATATAATATATATTATATATTATATAT AATATATATTATATATTATATATAATATATAATATATAATATACATTATA TAATAATATAATATATAATTATTACATTATATAATAATATAATGTATATT ATATAATAATAATGTAATATATAACATATATTATATAATAATAATATAAT ATATATTATATAATTAATATAATATATAATATATTTTATATAATAATAAT ATAATATATATTATATAATTAATATAATATATAATATATATTATATAATA ATAATATAATATATATAATAATTATATAATATAGTATATAATATATATTA TATAATAATAATATAATATATATAATAATTATATAATATTAGAATATATA TTATACAATAATAATATAATATATTATACAATAATAATATAATATATATA TAATTATATAATATAATATATATAATAATAATATAATATAATATATAATA TATATTATATAGTAATAATATAATATAATATATAATATATATTATATAGT AATAATATAATATAATATATAATATATATTATATGATAATATAATATAAT ATATATTAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	218	0.0046	658	c.55+ others(673): Show c.55+2822_55+2823insATAATATATATTATATTATATTATCATATA ATATATATTATATATTATATTATATTATTACTATATAATATATATTATAT ATTATATTATATTATTACTATATAATATATATTATATATTATATTATATT ATTATTATATATATTATATTATATAATTATATATATATTATATTATTATT GTATAATATATTATATTATTATTGTATAATATATATTCTAATATTATATA ATTATTATATATATTATATTATTATTATATAATATATATTATATACTATA TTATATAATTATTATATATATTATATTATTATTATATAATATATATTATA TATTATATTAATTATATAATATATATTATATTATTATTATATAAAATATA TTATATATTATATTAATTATATAATATATATTATATTATTATTATATAAT ATATGTTATATATTACATTATTATTATATAATATACATTATATTATTATA TAATGTAATAATTATATATTATATTATTATATAATGTATATTATATATTA TATATTATATATAATATATAATATATATTATATATAATATATAATATATA TTATATATTATATATTATATTATATAATTATTATATATTGCATTATATTA TATTATATATATTATATATATTATATAT	VSIG4	ENSG00000155659.15	transcript	ENST00000374737.9	protein_coding	1/7			chrX	TogoVar
WDR64_chr1_241647281_241807777	241675123	C C	CCTTCCTT others(651): Show CCTTCCTTCCTCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCTTCCATCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTTCC TTCCTCCCTCCCTTCCTTCCTCCCTCCTCCTTCCTTCCTCCCTCCCTCCT CCTTCCTCCCCTCCCTCCTTCCTGCCGTCCCTCCCTCCTTCCTTCCTCCC TCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCCTCCC TCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCT TCCTCCCTCCCTCCTTCCTTCCTCCCTCCTCCTTCCTTCCTCCCTCCCTC CTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTGCCTCC CTCCCTCCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCTCCCTCCCTTC CTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCCTCCTTCCTTCCTCCCTC CTCCTTCCTCCTCCTCCTTCCTTCCTCCCTCCTCCCTCCTTCTTCCTCCC TCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCCCCCTCCTTCCT CCCTCCCTT	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0296	1	326	0.0031	658	c.483 others(673): Show c.483+381_483+382insTTCCTCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCTTCCATCCTCCCTCCCTCCCTCCTT CCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCTCCTTCCTT CCTCCCTCCCTCCTCCTTCCTCCCCTCCCTCCTTCCTGCCGTCCCTCCCT CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCTCCTTCC TTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTGCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCCTCC TTCCTTCCTCCCTCCTCCTTCCTCCTCCTCCTTCCTTCCTCCCTCCTCCC TCCTTCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCCCCCTCCTTCCTCCCTCCCTTCTTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
AMER2_chr13_25156679_25177288	25159099	T T	TATATATA others(652): Show TATATATATAATATATATTACATGTATATATTATATATTATATGTTTATA TATTATATGTATATATGTATATATTATATATTATATATTATATATATTAT ATACATATAATATATATTCTCATATATATTATATATACTCATATATATAA TATATATTCTCATATATATATATTATATATTCTCATATATATAATATATA TATTCTCATATATAATATATATTCTCATATATATAATATATACTCATATA TTATATATATTCTCATATATTATATATATACTCATATATAATGTATATAT TCTAATATATAATATATATTTTCTCATTTATATAATATATATTCTCATAT ATAATATATATTCTCATATATGACATATTATATATATTCTCATATATATT ATATATTCTCATATATAATATATATTCTCATATAATATATTATATATTCT CATATAATATATTATATATGCTCATATATAATATATTATATATGCTCATA TATAATATATTATATATGCTCATATATAATATATTATATATGCTCATATA TAATATATTATATATGCTCATATATAATATATTATATATGCTCATATATA ATATATTATATATGCTCATATATAATATATTATATATGCTCATATATATT ATATATGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01167.hp1 HG01099.hp2 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0000 a0001c0001t0007g0000 a0001c0001t0003g0000 a0001c0001t0007g0000	2	416	0.0048	659	c.10 others(672): Show c.10504_*10505insGAGCATATATAATATATATGAGCATATATAAT ATATTATATATGAGCATATATAATATATTATATATGAGCATATATAATAT ATTATATATGAGCATATATAATATATTATATATGAGCATATATAATATAT TATATATGAGCATATATAATATATTATATATGAGCATATATAATATATTA TATATGAGCATATATAATATATTATATGAGAATATATAATATATTATATG AGAATATATATTATATATGAGAATATATAATATATATGAGAATATATATA ATATGTCATATATGAGAATATATATTATATATGAGAATATATATTATATA AATGAGAAAATATATATTATATATTAGAATATATACATTATATATGAGTA TATATATAATATATGAGAATATATATAATATATGAGTATATATTATATAT ATGAGAATATATATTATATATGAGAATATATATATTATATATATGAGAAT ATATAATATATATATATGAGAATATATATTATATATATGAGTATATATAA TATATATGAGAATATATATTATATGTATATAATATATATAATATATAATA TATAATATATACATATATACATATAATATATAAACATATAATATATAATA TATACATGTAATATATATTATATATAT	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2579		chr13	TogoVar
AMER2_chr13_25156679_25177288	25159099	T T	TATATATA others(652): Show TATATATATAATATATATTACATGTATATATTATATATTATATGTTTATA TATTATATGTATATATGTATATATTATATATTATATATTATATATATTAT ATACATATAATATATATTCTCATATATATTATATATACTCATATATATAA TATATATTCTCATATATATATATTATATATTCTCATATATATAATATATA TATTCTCATATATAATATATATTCTCATATATATAATATATACTCATATA TTATATATATTCTCATATATTATATATATACTCATATATAATGTATATAT TCTAATATATAATATATATTTTCTCATTTATATAATATATATTCTCATAT ATAATATATATTCTCATATATGACATATTATATATATTCTCATATATATT ATATATTCTCATATATAATATATATTCTCATATAATATATTATATATTCT CATATAATATATTATATATTCTCATATATAATATATTATATATGCTCATA TATAATATATTATATATGCTCATATATAATATATTATATATGCTCATATA TAATATATTATATATGCTCATATATAATATATTATATATGCTCATATATA ATATATTATATATGCTCATATATAATATATTATATATGCTCATATATATT ATATATGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG02698.hp1 HG02698.hp2 others(3): Show HG01106.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG03654.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0068 a0001c0001t0007 a0001c0001t0068	a0001c0001t0007g0000 a0001c0001t0068g0000 a0001c0001t0007g0000 a0001c0001t0068g0000	6	416	0.0144	659	c.10 others(672): Show c.10504_*10505insGAGCATATATAATATATATGAGCATATATAAT ATATTATATATGAGCATATATAATATATTATATATGAGCATATATAATAT ATTATATATGAGCATATATAATATATTATATATGAGCATATATAATATAT TATATATGAGCATATATAATATATTATATATGAGCATATATAATATATTA TATATGAGAATATATAATATATTATATGAGAATATATAATATATTATATG AGAATATATATTATATATGAGAATATATAATATATATGAGAATATATATA ATATGTCATATATGAGAATATATATTATATATGAGAATATATATTATATA AATGAGAAAATATATATTATATATTAGAATATATACATTATATATGAGTA TATATATAATATATGAGAATATATATAATATATGAGTATATATTATATAT ATGAGAATATATATTATATATGAGAATATATATATTATATATATGAGAAT ATATAATATATATATATGAGAATATATATTATATATATGAGTATATATAA TATATATGAGAATATATATTATATGTATATAATATATATAATATATAATA TATAATATATACATATATACATATAATATATAAACATATAATATATAATA TATACATGTAATATATATTATATATAT	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2579		chr13	TogoVar
C20orf96_chr20_265863_295750	279071	G G	GGAGGGAG others(652): Show GGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGG CGGGAGGGCGGGACGGAGGGACGGAGGGAGGGCGGGACGGAGGGCGGGAG GGCGGGACGGAGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGG AGGGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGGAG GGCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGG AGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAG GGAGGGAGGGCGGGACGGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGG AGGGAGGGAGGGAGGGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAG GGACGGAGGGAGGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGAGGG AGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGCGGGACGGAG GGAGGGCGGGACGGAGGGAGGGAGGGAGGGACGGAGGGACGGAGGGAGGG AGGGAGGGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGAGG GAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGA GGGAGGGAGC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03471.hp2 HG03486.hp1 HG02717.hp2 HG03471.hp2 HG03486.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0030 a0002c0004t0003g0031 a0002c0004t0003g0032 a0002c0004t0003g0030 a0002c0004t0003g0031 a0002c0004t0003g0032	3	410	0.0073	659	c.465 others(674): Show c.465+100_465+101insGCTCCCTCCCTCCGTCCCGCCCTCCGTCCC TCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCTCCCTCC CTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCCTCCGT CCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCGTCCCGCCCTCCCTCC CTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCT CCCGCCCTCCGTCCCGCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCGCC GTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCT CCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCC CTCCGTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCT CCGTCCCGCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCGTCCCTCCGTCC CGCCCTCCCGCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCG CCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCGCCCTCCGTCCCGCC CTCCCTCCGTCCCTCCGTCCCGCCCTCCCGCCGTCCCGCCCTCCGTCCCT CCCTCCCTCCCTCCGTCCCGCCCTCCCTC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
CACNA1C_chr12_2047987_2702950	2539214	C C	CTTCATAA others(652): Show CTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAA GATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAAGATGCAGGC AGGGTTTAAGGACTTAACGAGGGCTTCATAAAGATGCAGGCAGGGTTTAA GGACTTAAGGAGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAG GAGGGCTTCATAAAGATGCAGGCAGGGGGCCGGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGG AGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT TGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGC AGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCACGGT TTAAGGACTTAAGGAGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGACT TAAGGAGGGT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0018	a0001c0003t0018g0068 a0001c0003t0018g0068	1	104	0.0096	659	c.139 others(680): Show c.1391-10648_1391-10647insTTTCATAAAGATGCAGGCAGGGTT TAAGGACTTAACGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTT AAGGAGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGC TTCATAAAGATGCAGGCAGGGGGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGCAGGCAG GGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCACGGTTTAAGG ACTTAAGGAGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGA GGGTTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCAT AAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CAMTA1_chr1_6780454_7774706	6940912	A A	AGGGGGTC others(652): Show AGGGGGTCCTCACAGGGAGGGGGGTCCTCAGAGGGAGAGGGATCCTCCCG GGGAAGGGGGATCCTCACGGGGAAGGGCATCCTCAGGGGGAAGGGGGATC CTCATGGGGAGGGGGATCCTCAGGGGGAGGGGAGATCCTCATGAGGAGGG GGGATCCTCACGGGGAAGGGGGATCCTCACGGGGAGGGGATCCTCAGGGG GAGGGGGATCCTCACGGGGAAGGGGGATCCTCACGGGGAGGGGATCCTCA GGGGGAGGGGGATCCTCACGGGGAAGGGGGATCCTCACGGGGAGGGGGAT CCTCAGGGGGAGGGGGATCCTCCTCAGGGGGAGGGGGATCCTCACGGGGA AGGGGGATCCTCACGGGGAGGCGGGTCCTCACGGGGAGGGGGATCCTCAC GGGGAGAGGGATCCTCACGGGGAGGGGGATCCTCAGGGGGAGGGGGATCC TCAGGGGGAGGGGGATCCTCACGGGGAGGGGGATCCTCACGGGGAGGGGG ATCCTCACGGGGAGGGGGATCCTCACGGGGAGGGGGATCCTCACGGGGAG AGGGATCCTCACGGGGAGGGGGATCCTCAGAGGGAGGGGGGATCCTTGGG GGGAGGGGGATCCTCATGGGGAGGGGGATCCTCACAGGGTGGGGGGATCC TCACAGGGAG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0038 a0001c0001t0005g0038	1	58	0.0172	659	c.234 others(680): Show c.234+115706_234+115707insGTCCTCACAGGGAGGGGGGTCCTC AGAGGGAGAGGGATCCTCCCGGGGAAGGGGGATCCTCACGGGGAAGGGCA TCCTCAGGGGGAAGGGGGATCCTCATGGGGAGGGGGATCCTCAGGGGGAG GGGAGATCCTCATGAGGAGGGGGGATCCTCACGGGGAAGGGGGATCCTCA CGGGGAGGGGATCCTCAGGGGGAGGGGGATCCTCACGGGGAAGGGGGATC CTCACGGGGAGGGGATCCTCAGGGGGAGGGGGATCCTCACGGGGAAGGGG GATCCTCACGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTCCTCAGGG GGAGGGGGATCCTCACGGGGAAGGGGGATCCTCACGGGGAGGCGGGTCCT CACGGGGAGGGGGATCCTCACGGGGAGAGGGATCCTCACGGGGAGGGGGA TCCTCAGGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTCACGGGGAGG GGGATCCTCACGGGGAGGGGGATCCTCACGGGGAGGGGGATCCTCACGGG GAGGGGGATCCTCACGGGGAGAGGGATCCTCACGGGGAGGGGGATCCTCA GAGGGAGGGGGGATCCTTGGGGGGAGGGGGATCCTCATGGGGAGGGGGAT CCTCACAGGGTGGGGGGATCCTCACAGGGAGGGGG	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	6940912	A A	AGGGGGTC others(652): Show AGGGGGTCCTCACAGGGAGGGGGGTCCTCAGAGGGAGAGGGATCCTCCCG GGGAAGGGGGATCCTCACGGGGAAGGGCATCCTCAGGGGGAAGGGGGATC CTCATGGGGAGGGGGATCCTCAGGGGGAGGGGAGATCCTCATGAGGAGGG GGGATCCTCACGGGGAGGGGGGGATCCTCCTCACAGGGAGGTGGATCCTC ACGGGGAAGGGATCCTCAGGGGGAGGGGGATCCTCACAGGGAGGGGATCC TCGGGAAGGTGGATCCTCACGGGGAGGAGGATCCTCACGGGGAGGGGGAT CCTCAGGGGGAGGGGGATCCTCACGGGGAGGGGATCCTCAGGGGGAGGGG GATCCTCAGGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTCAGGGGGA GGGGGATCCTCACGGGGAGGGGATCCTCAGGGGGAGGAGGATCCTCACGG GGAGGGGGATCCTCAGGCGGAGGGGGATCCTCCTCAGGGGGAGGGGGGAT CCTCACGGGGAGTGGGGATCCTCCAAGGGGAGGGGGATCCTCACGGGGAG GGGGATCCTCATGGGGAGAGGGATCCTCACGGGGAGGGGGATCCTCAGAG GGAGGGGGGATCCTTGGGGGGAGGGGGATCCTCACAGGGTGGGGGGATCC TCACAGGGAG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0028 a0001c0003t0005g0028	1	58	0.0172	659	c.234 others(680): Show c.234+115706_234+115707insGTCCTCACAGGGAGGGGGGTCCTC AGAGGGAGAGGGATCCTCCCGGGGAAGGGGGATCCTCACGGGGAAGGGCA TCCTCAGGGGGAAGGGGGATCCTCATGGGGAGGGGGATCCTCAGGGGGAG GGGAGATCCTCATGAGGAGGGGGGATCCTCACGGGGAGGGGGGGATCCTC CTCACAGGGAGGTGGATCCTCACGGGGAAGGGATCCTCAGGGGGAGGGGG ATCCTCACAGGGAGGGGATCCTCGGGAAGGTGGATCCTCACGGGGAGGAG GATCCTCACGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTCACGGGGA GGGGATCCTCAGGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTCAGGG GGAGGGGGATCCTCAGGGGGAGGGGGATCCTCACGGGGAGGGGATCCTCA GGGGGAGGAGGATCCTCACGGGGAGGGGGATCCTCAGGCGGAGGGGGATC CTCCTCAGGGGGAGGGGGGATCCTCACGGGGAGTGGGGATCCTCCAAGGG GAGGGGGATCCTCACGGGGAGGGGGATCCTCATGGGGAGAGGGATCCTCA CGGGGAGGGGGATCCTCAGAGGGAGGGGGGATCCTTGGGGGGAGGGGGAT CCTCACAGGGTGGGGGGATCCTCACAGGGAGGGGG	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CCDC77_chr12_396644_447642	419929	T T	TTCCATTA others(652): Show TTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGATAAA CACACATAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTGTGTG TGTGCTGGGAGTGAGAGGGTAAAACACACATAGCAGCACACTCCATGTTC CATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATA CACATAGCAGCACACTCCATGTTCCATTACAGTGCTCTTCTGTGTGTGTG TGCTGGGAGTGAGAGGATAAACACACATAGCAGCACACTCCATGTTCCAT TACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACAC ATAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGC TGGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCATGTTCCATTA CAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGATAAACACACATA GCAGCACACTCCATGTTCCATTACAGTGCTCTTCTGTGTGTGCTGGGAGT GAGAGGGTAAAATACACATAGCAGCACACTCCATGTTCCATTACAGTGCT CTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACACACATAGCAGCA CACTCCATGC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	432	0.0023	659	c.413 others(676): Show c.413+1306_413+1307insTCTTCTGTGTGTGTGTGCTGGGAGTGAG AGGATAAACACACATAGCAGCACACTCCATGTTCCATTACAGTGCACTTC TGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACACACATAGCAGCACACT CCATGTTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGG GTAAAATACACATAGCAGCACACTCCATGTTCCATTACAGTGCTCTTCTG TGTGTGTGTGCTGGGAGTGAGAGGATAAACACACATAGCAGCACACTCCA TGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTA AAATACACATAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTGT GTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCATG TTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGATAAA CACACATAGCAGCACACTCCATGTTCCATTACAGTGCTCTTCTGTGTGTG CTGGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCATGTTCCATT ACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACACACA TAGCAGCACACTCCATGCTCCATTACAGTGC	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CDH23_chr10_71391920_71820947	71688976	G G	GGTGGTGG others(652): Show GGTGGTGGAGCCAGGGGTAGAGGAGTCAGGGATGGTGGAGTCAAGTGCCG TGGACCCAGGGATGGTGGAGCCAGGGGTGGTGGAGTCAGGGATGGTGGAG TCAGGGATGGTGGAGCCAGAGGTGGTGGAGCCAGGGATGGTGGAGCCAGG GGTGGTGGAGCCAGGGGTGGTGGAGCCAACGGTGGTGGAGTCAGGGATGG TGGAGCCAGGGGTGGTGGAGCCAGGGGTGGTGGAGTCAGGGGTGGTGGAG CCAGGGATGGTGGAGCCAGGTGTGGTGGAGTCAGGGGTGGTGGAGCCAGG GATGGTGGAGTCAGGGGTGGTGGAGCCAGGGGTGGTGGAGCCAACGGTGG TGGAGTCAGGGATGGTGGAGCCAGGGGTGGTGGAGTCAGGGGTGGTGGAG CCAGGGGTGGTGGAGTCAGGGGTGGTGGAGCCAGGGGTGGTGGAGCCAAC GGTGGTGGAGTCAGGGGTGGTGGAGTCCAGGGTGGTGGAGCCAGGGGTAG AGGAGTCAGGGATGGTGGAGTCAAGTGCCGTGGACCCAGGGATGGTGGAG CCAGGGGTGGTGGAGTCAGGGATGGTGGAGTCAGGGATGGTGGAGCCAGA GGTGGTGGAGCCAGGGATGGTGGAGCCAGGGGTGGTGGAGCCAGGGGTGG TGGAGCCAAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02280.hp1 HG02723.hp2 others(4): Show HG00642.hp1 HG02280.hp1 HG02723.hp2 HG02895.hp2 HG02965.hp2 HG03130.hp2 NA20129.hp1	a0001 a0003 a0043 others(4): Show a0001 a0003 a0043 a0059 a0070 a0075 a0103	a0001c0102 a0003c0090 a0043c0141 others(4): Show a0001c0102 a0003c0090 a0043c0141 a0059c0157 a0070c0056 a0075c0040 a0103c0023	a0001c0102t0001 a0003c0090t0001 a0043c0141t0008 others(4): Show a0001c0102t0001 a0003c0090t0001 a0043c0141t0008 a0059c0157t0029 a0070c0056t0001 a0075c0040t0001 a0103c0023t0007	a0001c0102t0001g0192 a0003c0090t0001g0194 a0043c0141t0008g0017 others(4): Show a0001c0102t0001g0192 a0003c0090t0001g0194 a0043c0141t0008g0017 a0059c0157t0029g0182 a0070c0056t0001g0179 a0075c0040t0001g0135 a0103c0023t0007g0174	7	196	0.0357	659	c.205 others(678): Show c.2059+1258_2059+1259insTGGTGGAGCCAGGGGTAGAGGAGTCA GGGATGGTGGAGTCAAGTGCCGTGGACCCAGGGATGGTGGAGCCAGGGGT GGTGGAGTCAGGGATGGTGGAGTCAGGGATGGTGGAGCCAGAGGTGGTGG AGCCAGGGATGGTGGAGCCAGGGGTGGTGGAGCCAGGGGTGGTGGAGCCA ACGGTGGTGGAGTCAGGGATGGTGGAGCCAGGGGTGGTGGAGCCAGGGGT GGTGGAGTCAGGGGTGGTGGAGCCAGGGATGGTGGAGCCAGGTGTGGTGG AGTCAGGGGTGGTGGAGCCAGGGATGGTGGAGTCAGGGGTGGTGGAGCCA GGGGTGGTGGAGCCAACGGTGGTGGAGTCAGGGATGGTGGAGCCAGGGGT GGTGGAGTCAGGGGTGGTGGAGCCAGGGGTGGTGGAGTCAGGGGTGGTGG AGCCAGGGGTGGTGGAGCCAACGGTGGTGGAGTCAGGGGTGGTGGAGTCC AGGGTGGTGGAGCCAGGGGTAGAGGAGTCAGGGATGGTGGAGTCAAGTGC CGTGGACCCAGGGATGGTGGAGCCAGGGGTGGTGGAGTCAGGGATGGTGG AGTCAGGGATGGTGGAGCCAGAGGTGGTGGAGCCAGGGATGGTGGAGCCA GGGGTGGTGGAGCCAGGGGTGGTGGAGCCAACG	CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	19/69		INFO_REALIGN_3_PRIME	chr10	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(652): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTA AGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAG AGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAG GTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTA AGAGGTGATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	334	0.0030	659	c.-25 others(670): Show c.-2517_-2516insCATCACCTCTTAATACTATCACCTCTTAATACTA TCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATC ACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCAC CTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCT CTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCT TAATACTATCACCTCTTAATACTATCACCTCTTAATACTACCACCTCTTA ATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAAT ACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATAC TACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTA CCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACC ACCTCTTAATACTACCACCTCTTAATACTATCACCTCTTAATACTATCAC CTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCT CTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCT TAATACTATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CECR2_chr22_17364460_17563151	17524554	G G	GGCTAATT others(652): Show GGCTAATTTTTTGTATTGTTAGTAGAGACGGGGTTTCACCGTGTTAGCCA GGATGATCTAGAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCACTTTTTTTCTG TTTAGAGTTCTGCAAGCAAAGGATAATAACTGTCTTTAGATGTTTTCTTA GATAACAATTGTATTTATAAGTTCAACCTGATAAATCATGTGATAACAGA TCACTTGGTGTAATTGAAGATAGTCCAAGATTTACCTTTTAAATAAGTGT ATTGAATATTTTTAATTTTTCAATACAACAGCATAGCATATGGATTTGGC TTTTTGAATGCAGTGTTTTGCAGGGCAAGATTTCAGTAAATTTTGGCTAA GAAAATTGAAGTATTCTGGCCTTATGTACCTATTAAGTAACAGAAAGTTA CTTAACCTATTATGTGCACCTCATTCCTACCAAGATCTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACTCCGTCTCGGTTTGTCGCCCAGGCTGGAG TGCAGTGGCACGATCTCGTCTCACTGCAAGCTCCGCATCCCGGGTTCTCG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACT ACCACGCCCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01071.hp1 HG01123.hp1 others(29): Show HG00099.hp1 HG01071.hp1 HG01123.hp1 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01993.hp1 HG02056.hp1 HG02056.hp2 HG02258.hp2 HG02300.hp1 HG02818.hp2 HG02970.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03831.hp1 NA18939.hp1 NA18939.hp2 NA18950.hp2 NA18955.hp1 NA18955.hp2 NA18972.hp1 NA18973.hp1 NA18975.hp1 NA18977.hp1 NA18994.hp2 NA18999.hp1 NA19010.hp2 NA19074.hp2 NA19081.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0002 a0001c0001 a0001c0008 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0039 a0001c0008t0083 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0006 a0002c0002t0009 a0002c0002t0011 a0002c0002t0014 a0002c0002t0022 a0002c0002t0032 a0002c0002t0054 a0002c0002t0065	a0001c0001t0001g0093 a0001c0001t0001g0246 a0001c0001t0002g0070 others(29): Show a0001c0001t0001g0093 a0001c0001t0001g0246 a0001c0001t0002g0070 a0001c0001t0002g0147 a0001c0001t0008g0308 a0001c0001t0009g0168 a0001c0001t0039g0278 a0001c0008t0083g0047 a0002c0002t0001g0175 a0002c0002t0001g0185 a0002c0002t0001g0247 a0002c0002t0002g0081 a0002c0002t0002g0106 a0002c0002t0003g0032 a0002c0002t0003g0056 a0002c0002t0003g0061 a0002c0002t0003g0110 a0002c0002t0003g0130 a0002c0002t0003g0131 a0002c0002t0003g0145 a0002c0002t0003g0201 a0002c0002t0005g0149 a0002c0002t0006g0010 a0002c0002t0009g0206 a0002c0002t0011g0095 a0002c0002t0014g0025 a0002c0002t0014g0208 a0002c0002t0022g0274 a0002c0002t0032g0086 a0002c0002t0032g0087 a0002c0002t0054g0306 a0002c0002t0065g0217	32	324	0.0988	659	c.110 others(676): Show c.1108+299_1108+300insGTTAGTAGAGACGGGGTTTCACCGTGTT AGCCAGGATGATCTAGAACTCCTGACCTTGTGATCCACCCGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCACTTTTT TTCTGTTTAGAGTTCTGCAAGCAAAGGATAATAACTGTCTTTAGATGTTT TCTTAGATAACAATTGTATTTATAAGTTCAACCTGATAAATCATGTGATA ACAGATCACTTGGTGTAATTGAAGATAGTCCAAGATTTACCTTTTAAATA AGTGTATTGAATATTTTTAATTTTTCAATACAACAGCATAGCATATGGAT TTGGCTTTTTGAATGCAGTGTTTTGCAGGGCAAGATTTCAGTAAATTTTG GCTAAGAAAATTGAAGTATTCTGGCCTTATGTACCTATTAAGTAACAGAA AGTTACTTAACCTATTATGTGCACCTCATTCCTACCAAGATCTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACTCCGTCTCGGTTTGTCGCCCAGGC TGGAGTGCAGTGGCACGATCTCGTCTCACTGCAAGCTCCGCATCCCGGGT TCTCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCAC CCACTACCACGCCCAGCTAATTTTTTGTATT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CFAP61_chr20_20047532_20365698	20356953	T T	TACTGTGA others(652): Show TACTGTGAGTGAGGAGGTAGTCACACTGAGGGGAAGTGGTCACACTGAGG GGAGGTGGTCACACTGAGGGGAGGTGGTCATACTGTGAGTGAGGAGGTAG TCACACTGAGGGGAGGTGGTCATACTGCGAGTGGAGGTAGTCACACTGTG AAGGGTGGTAGTCACACTGAGAGGAGGTGGTCACACTGAGGGGAAGTGGT CACACTGAGGGGAGGTGGTCATACTGTGAGGGGAAGTGGTCACACTGAGG GGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTC ACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGG GAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCA CAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGG GGAGATGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTC ACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGG GAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCA CACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGATGGTCACACTGAGGGG AGGTGGTCAC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03195.hp2 HG03130.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0004 a0001c0001t0001 a0001c0003t0004	a0001c0001t0001g0178 a0001c0003t0004g0005 a0001c0001t0001g0178 a0001c0003t0004g0005	2	236	0.0085	659	c.351 others(678): Show c.3514-3256_3514-3255insCTGTGAGTGAGGAGGTAGTCACACTG AGGGGAAGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGT CATACTGTGAGTGAGGAGGTAGTCACACTGAGGGGAGGTGGTCATACTGC GAGTGGAGGTAGTCACACTGTGAAGGGTGGTAGTCACACTGAGAGGAGGT GGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATACTGTG AGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTG GTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGA GGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGG TCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAG GGGAGGTGGTCACAGTGTGAGGGGAGATGGTCACACTGAGGGGAGGTGGT CACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGA GGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTC ACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAG GGGAGATGGTCACACTGAGGGGAGGTGGTCACA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL21A1_chr6_56051590_56252580	56098080	A A	AATAAATA others(652): Show AATAAATATATATAAATATATATAAATATAAATATATATATAAATATGTA ATTCTAAATATATATGTAAATATATATAAATATAAATATATTTATAAATA TATAAATATATATATATTTATAAATATATAAATATATATATATTTATAAA TATATAAATATATATATATTTATAAATATATAAATATATATAAAAATATA TATAAATATATAAAAAATATAAATATATATAAATATATAAATATATGTAA ATATATATAAATATATATATAAATATATATATAAATATATATATAAATAT ATATATAAATATATATATATAAATATATATAAATATATAACTATATAAAT AAATATATATAAATATATAAATATATAAAAATATATATAAATATATATGT AAATATATAAATATATATAAATATATATAAATATATATAAGTATATAAAT ATATATAAATATATATAAGTATATAAATATATATATAAATATATATAAGT ATATAAATATATATATAAATATATATAAGTATATAAATATATATAAATAT ATATAAGTATATAAATATATATATAAATATATATAAGTATATATAAATAT ATATAAATATATATAAGTATATATAAATATATAAAAATATATATAAGTAT ATATAAATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00639.hp2 others(23): Show HG00099.hp2 HG00408.hp1 HG00639.hp2 HG01099.hp2 HG01123.hp2 HG01168.hp1 HG01255.hp2 HG01515.hp1 HG01517.hp1 HG02132.hp1 HG02155.hp2 HG02165.hp1 HG03017.hp2 HG03710.hp1 HG03834.hp2 NA18946.hp2 NA18953.hp2 NA18971.hp1 NA18975.hp2 NA18979.hp1 NA18986.hp2 NA18989.hp2 NA19004.hp2 NA19005.hp1 NA19064.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0022 a0001c0001 a0001c0022	a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 a0001c0022t0003	a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0118 others(23): Show a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0174 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0256 a0001c0001t0003g0038 a0001c0001t0003g0043 a0001c0001t0016g0144 a0001c0001t0016g0237 a0001c0022t0003g0063	26	264	0.0985	659	c.181 others(678): Show c.1812+3391_1812+3392insATATTTATATATACTTATATATATTT TTATATATTTATATATACTTATATATATTTATATATATTTATATATACTT ATATATATTTATATATATATTTATATACTTATATATATTTATATATATTT ATATACTTATATATATTTATATATATATTTATATACTTATATATATTTAT ATATATATTTATATACTTATATATATTTATATATATTTATATACTTATAT ATATTTATATATATTTATATATATTTATATATTTACATATATATTTATAT ATATTTTTATATATTTATATATTTATATATATTTATTTATATAGTTATAT ATTTATATATATTTATATATATATATTTATATATATATTTATATATATAT TTATATATATATTTATATATATATTTATATATATTTACATATATTTATAT ATTTATATATATTTATATTTTTTATATATTTATATATATTTTTATATATA TTTATATATTTATAAATATATATATATTTATATATTTATAAATATATATA TATTTATATATTTATAAATATATATATATTTATATATTTATAAATATATT TATATTTATATATATTTACATATATATTTAGAATTACATATTTATATATA TATTTATATTTATATATATTTATATATATTTAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL21A1_chr6_56051590_56252580	56098080	A A	AATAAATA others(652): Show AATAAATATATATAAATATATATAAATATAAATATATATATAAATATGTA ATTCTAAATATATATGTAAATATATATAAATATAAATATATTTATAAATA TATAAATATATATATATTTATAAATATATAAATATATATATATTTATAAA TATATAAATATATATATATTTATAAATATATAAATATATATAAAAATATA TATAAATATATAAAAAATATAAATATATATAAATATATAAATATATGTAA ATATATATAAATATATATATAAATATATATATAAATATATATATAAATAT ATATATAAATATATATATATAAATATATATAAATATATAACTATATAAAT AAATATATATAAATATATAAATATATAAAAATATATATAAATATATATGT AAATATATAAATATATATAAATATATATAAATATATATAAGTATATAAAT ATATATAAATATATATAAGTATATAAATATATATATAAATATATATAAGT ATATAAATATATATATAAATATATATAAGTATATAAATATATATAAATAT ATATAAGTATATAAATATATATATAAATATATATAAGTATATATAAATAT ATATAAATATATATAAGTATATATAAATATATATAAATATATATAAGTAT ATATAAATAT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	264	0.0038	659	c.181 others(678): Show c.1812+3391_1812+3392insATATTTATATATACTTATATATATTT ATATATATTTATATATACTTATATATATTTATATATATTTATATATACTT ATATATATTTATATATATATTTATATACTTATATATATTTATATATATTT ATATACTTATATATATTTATATATATATTTATATACTTATATATATTTAT ATATATATTTATATACTTATATATATTTATATATATTTATATACTTATAT ATATTTATATATATTTATATATATTTATATATTTACATATATATTTATAT ATATTTTTATATATTTATATATTTATATATATTTATTTATATAGTTATAT ATTTATATATATTTATATATATATATTTATATATATATTTATATATATAT TTATATATATATTTATATATATATTTATATATATTTACATATATTTATAT ATTTATATATATTTATATTTTTTATATATTTATATATATTTTTATATATA TTTATATATTTATAAATATATATATATTTATATATTTATAAATATATATA TATTTATATATTTATAAATATATATATATTTATATATTTATAAATATATT TATATTTATATATATTTACATATATATTTAGAATTACATATTTATATATA TATTTATATTTATATATATTTATATATATTTAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL21A1_chr6_56051590_56252580	56098080	A A	AATAAATA others(652): Show AATAAATATATATAAATATATATAAATATAAATATATATATAAATATGTA ATTCTAAATATATATGTAAATATATATAAATATAAATATATTTATAAATA TATAAATATATATATATTTATAAATATATAAATATATATATATTTATAAA TATATAAATATATATATATTTATAAATATATAAATATATATAAAAATATA TATAAATATATAAAAAATATAAATATATATAAATATATAAATATATGTAA ATATATATAAATATATATATAAATATATATATAAATATATATATAAATAT ATATATAAATATATATATATAAATATATATAAATATATAACTATATAAAT AAATATATATAAATATATAAATATATAAAAATATATATAAATATATATGT AAATATATAAATATATATAAATATATATAAATATATATAAGTATATAAAT ATATATAAATATATATAAGTATATAAATATATATATAAATATATATAAGT ATATAAATATATATATAAATATATATAAGTATATAAATATATATAAATAT ATATAAGTATATAAATATATATATAAATATCTATAAGTATATATAAATAT ATATAAATATATATAAGTATATATAAATATATAAAAATATATATAAGTAT ATATAAATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01928.hp2 HG01993.hp1 others(1): Show HG00280.hp1 HG01928.hp2 HG01993.hp1 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0145 a0001c0001t0001g0223 a0001c0001t0001g0224 others(1): Show a0001c0001t0001g0145 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0006g0012	4	264	0.0152	659	c.181 others(678): Show c.1812+3391_1812+3392insATATTTATATATACTTATATATATTT TTATATATTTATATATACTTATATATATTTATATATATTTATATATACTT ATAGATATTTATATATATATTTATATACTTATATATATTTATATATATTT ATATACTTATATATATTTATATATATATTTATATACTTATATATATTTAT ATATATATTTATATACTTATATATATTTATATATATTTATATACTTATAT ATATTTATATATATTTATATATATTTATATATTTACATATATATTTATAT ATATTTTTATATATTTATATATTTATATATATTTATTTATATAGTTATAT ATTTATATATATTTATATATATATATTTATATATATATTTATATATATAT TTATATATATATTTATATATATATTTATATATATTTACATATATTTATAT ATTTATATATATTTATATTTTTTATATATTTATATATATTTTTATATATA TTTATATATTTATAAATATATATATATTTATATATTTATAAATATATATA TATTTATATATTTATAAATATATATATATTTATATATTTATAAATATATT TATATTTATATATATTTACATATATATTTAGAATTACATATTTATATATA TATTTATATTTATATATATTTATATATATTTAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL21A1_chr6_56051590_56252580	56098080	A A	AATAAATA others(652): Show AATAAATATATATAAATATATATAAATATAAATATATATATAAATATGTA ATTCTAAATATATATGTAAATATATATAAATATAAATATATTTATAAATA TATAAATATATATATATTTATAAATATATAAATATATATATATTTATAAA TATATAAATATATATATATTTATAAATATATAAATATATATAAAAATATA TATAAATATATAAAAAATATAAATATATATAAATATATAAATATATGTAA ATATATATAAATATATATATAAATATATATATAAATATATATATAAATAT ATATATAAATATATATATATAAATATATATAAATATATAACTATATAAAT AAATATATATAAATATATAAATATATAAAAATATATATAAATATATATGT AAATATATAAATATATATAAATATATATAAATATATATAAGTATATAAAT ATATATAAATATATATAAGTATATAAATATATATATAAATATATATAAGT ATATAAATATATATATAAATATATATAAGTATATAAATATATATAAATAT ATATTAGTATATAAATATATATATAAATATATATAAGTATATATAAATAT ATATAAATATATATAAGTATATATAAATATATAAAAATATATATAAGTAT ATATAAATAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00609.hp1 NA18747.hp1 others(2): Show HG00544.hp1 HG00609.hp1 NA18747.hp1 NA18968.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 others(2): Show a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0250 a0001c0001t0001g0253	5	264	0.0189	659	c.181 others(678): Show c.1812+3391_1812+3392insATATTTATATATACTTATATATATTT TTATATATTTATATATACTTATATATATTTATATATATTTATATATACTT ATATATATTTATATATATATTTATATACTAATATATATTTATATATATTT ATATACTTATATATATTTATATATATATTTATATACTTATATATATTTAT ATATATATTTATATACTTATATATATTTATATATATTTATATACTTATAT ATATTTATATATATTTATATATATTTATATATTTACATATATATTTATAT ATATTTTTATATATTTATATATTTATATATATTTATTTATATAGTTATAT ATTTATATATATTTATATATATATATTTATATATATATTTATATATATAT TTATATATATATTTATATATATATTTATATATATTTACATATATTTATAT ATTTATATATATTTATATTTTTTATATATTTATATATATTTTTATATATA TTTATATATTTATAAATATATATATATTTATATATTTATAAATATATATA TATTTATATATTTATAAATATATATATATTTATATATTTATAAATATATT TATATTTATATATATTTACATATATATTTAGAATTACATATTTATATATA TATTTATATTTATATATATTTATATATATTTAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)