Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
COPG2_chr7_130501238_130673748	130591387	A A	AAGGAGGT others(622): Show AAGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCACCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCTCTACTGGGAAGAGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCC CCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGAGGTCAGCCCCC CGCCCAGCCAGCTGCCCCGTCCGGGAAGGAGGTGGGGGGGTCAGCACCCC GCCTGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCTCTACTGGGAAGAGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCTGCCCTGTCTGGG AGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGACAGCCGCCCTGTCCGGGAG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	326	0.0031	629	c.737 others(648): Show c.737+19565_737+19566insCTCCCGGACAGGGCGGCTGTCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTC ACCTCCCAGACAGGGCAGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCTCTTCCCAGTA GAGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCC AGGCGGGGTGCTGACCCCCCCACCTCCTTCCCGGACGGGGCAGCTGGCTG GGCGGGGGGCTGACCTCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GTGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCTCTTCCCAGTAGAGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCT CCT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	9/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130591387	A A	AAGGAGGT others(622): Show AAGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCACCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCTCTACTGGGAAGAGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCC CCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGAGGTCAGCCCCC CGCCCAGCCAGCTGCCCCGTCCGGGAAGGAGGTGGGGGGGTCAGCACCCC GCCTGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCTCTACTGGGAAGAGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCTGCCCTGTCTGGG AGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGACAGCCGCCCTGTCCGGGAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp2 HG00558.hp2 others(67): Show HG00140.hp2 HG00438.hp2 HG00558.hp2 HG00639.hp1 HG01106.hp2 HG01167.hp2 HG01258.hp2 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01515.hp1 HG01517.hp2 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG02015.hp2 HG02080.hp2 HG02083.hp1 HG02145.hp2 HG02257.hp2 HG02300.hp1 HG02451.hp1 HG02523.hp2 HG02559.hp2 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03669.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03942.hp1 HG04115.hp2 NA18522.hp1 NA18939.hp2 NA18941.hp2 NA18945.hp1 NA18947.hp2 NA18952.hp2 NA18954.hp1 NA18957.hp2 NA18960.hp1 NA18961.hp2 NA18964.hp2 NA18967.hp1 NA18978.hp2 NA18980.hp1 NA18983.hp1 NA18994.hp1 NA18998.hp1 NA19003.hp2 NA19004.hp1 NA19009.hp1 NA19043.hp1 NA19054.hp1 NA19058.hp2 NA19066.hp2 NA19070.hp2 NA19078.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp2 NA19091.hp1 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0006 a0001c0012 others(1): Show a0001c0001 a0001c0006 a0001c0012 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 a0001c0006t0002 a0001c0012t0002 a0007c0009t0002	a0001c0001t0001g0200 a0001c0001t0001g0213 a0001c0001t0002g0024 others(67): Show a0001c0001t0001g0200 a0001c0001t0001g0213 a0001c0001t0002g0024 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0151 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0002g0171 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0208 a0001c0001t0002g0212 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0006g0149 a0001c0001t0006g0168 a0001c0001t0006g0172 a0001c0001t0006g0178 a0001c0001t0006g0182 a0001c0001t0006g0226 a0001c0001t0012g0206 a0001c0006t0002g0153 a0001c0006t0002g0154 a0001c0012t0002g0166 a0007c0009t0002g0217	70	326	0.2147	629	c.737 others(648): Show c.737+19565_737+19566insCTCCCGGACAGGGCGGCTGTCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTC ACCTCCCAGACAGGGCAGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCTCTTCCCAGTA GAGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCC AGGCGGGGTGCTGACCCCCCCACCTCCTTCCCGGACGGGGCAGCTGGCTG GGCGGGGGGCTGACCTCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GTGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCTCTTCCCAGTAGAGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCT CCT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	9/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130591387	A A	AAGGAGGT others(622): Show AAGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCACCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCTCTACTGGGAAGAGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCC CCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGAGGTCAGCCCCC CGCCCAGCCAGCTGCCCCGTCCGGGAAGGAGGTGGGGGGGTCAGCACCCC GCCTGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCTCTACTGGGAAGAGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGATCAGCCCCCTGCCCGGCCAGCTGCCCTGTCTGGG AGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGACAGCCGCCCTGTCCGGGAG	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0170 a0001c0001t0002g0170	1	326	0.0031	629	c.737 others(648): Show c.737+19565_737+19566insCTCCCGGACAGGGCGGCTGTCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTC ACCTCCCAGACAGGGCAGCTGGCCGGGCAGGGGGCTGATCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCTCTTCCCAGTA GAGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCC AGGCGGGGTGCTGACCCCCCCACCTCCTTCCCGGACGGGGCAGCTGGCTG GGCGGGGGGCTGACCTCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GTGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCTCTTCCCAGTAGAGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCT CCT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	9/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130591387	A A	AAGGAGGT others(622): Show AAGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCACCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCTCTACTGGGAAGAGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCC CCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGAGGTCAGCCCCC CGCCCGGCCAGCTGCCCCGTCCGGGAAGGAGGTGGGGGGGTCAGCACCCC GCCTGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCTCTACTGGGAAGAGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCTGCCCTGTCCGGG AGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGACAGCCGCCCTGTCCGGGAG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01070.hp1 HG00621.hp2 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0304 a0001c0002t0001g0041 a0001c0001t0001g0304 a0001c0002t0001g0041	2	326	0.0061	629	c.737 others(648): Show c.737+19565_737+19566insCTCCCGGACAGGGCGGCTGTCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTC ACCTCCCGGACAGGGCAGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCTCTTCCCAGTA GAGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCC AGGCGGGGTGCTGACCCCCCCACCTCCTTCCCGGACGGGGCAGCTGGCCG GGCGGGGGGCTGACCTCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GTGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCTCTTCCCAGTAGAGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCT CCT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	9/23			chr7	TogoVar
DCDC2_chr6_24166755_24363059	24238180	G G	GGGAGGAA others(622): Show GGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAATGAAGG GAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAATGGAGGGAGGGAGGGA GGGAGGGAGGAATGGAGGAATGGAGGGATGGGGAGGGGGAGGGGAGGGGG AGGGGAGTGGAAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGGAGGGG AGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGG GAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGG GAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGG AGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGG GAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGG GAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGAGGGGGAGGGGGAGG GGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGGAGACAGAGGGGAGGGGGA GGGGAAGGGGGAGACAGAGGGGAGGGGGAA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	216	0.0046	629	c.923 others(648): Show c.923-33079_923-33078insTTCCCCCTCCCCTCTGTCTCCCCCTT CCCCTCCCCCTCCCCTCTGTCTCCCCCTTCCCCTCCCCCTCCCCTTCCCC TTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCC CCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCCTTCCACTCCCCTCCCCCTCCCCTCCCCCTTCCACTC CCCTCCCCCTCCCCTCCCCCTCCCCATCCCTCCATTCCTCCATTCCTCCC TCCCTCCCTCCCTCCCTCCATTCCTCCCTCCCTCCCTCCCTTCCTCCCTC CCTCCCTTCATTCCTCCCTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCC TCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DECR2_chr16_396885_417482	397726	C C	CGGGGGGT others(622): Show CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGGTGAGGGAGTCGGGGGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	367	0.0027	629	c.-42 others(640): Show c.-4238_-4237insGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4158		chr16	TogoVar
DIDO1_chr20_62872743_62931505	62875242	C C	CCCACCCC others(622): Show CCCACCCCCACCCGCACCCGCACCCCCACCCCGCACCCCGCACCCCCCAC CCCCACCCCGCACCCCGCCACCCCCACCCCCACCCCCACCCCCCACCCCG CACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCAGCCCCC CCACCCCGCACCCCCACCCCCACCCCCACCCCCCTCCCCCCACCCCCACC CGCCACACCCGCACCCCCACCCCGCACCCCGCACCCCCACCCCCACCCCC ACCCCCACCCCCACCCCTCACCACCCACCCCGCACCCCCACCCCCACCCC ACCGCCCCGCACCCCCACCCCCACCCCCACCCGCACCCTCCCACCCCCCA CCCCCCCACCCGCACCCCGCACCCCCACCCGCACCCCCACCCCCACCCCC ACCCGCACCCGCACCCCCACCCGCACCCCGCACCCCCCACCCCGCACCCC CACCCCCACCTCCACCCCCACCCGCACCCGCACCCCCCACCCCCACCCGC ACCCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCCGCACCCCCC ACCCCACCCCGCACCCCCCACCCCCACCCACCACCCCCACCCTCACCCGC ACCCGCCACCCCCACCCTCACCCCCACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0001 a0001c0027t0001	a0001c0027t0001g0066 a0001c0027t0001g0066	1	320	0.0031	629	c.39 others(640): Show c.3990_*3991insAGGGTGGGGGTGAGGGTGGGGGTGGCGGGTGCGG GTGAGGGTGGGGGTGGTGGGTGGGGGTGGGGGGTGCGGGGTGGGGTGGGG GGTGCGGGTGAGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGGTGCGG GTGGGGGTGGGGGGTGCGGGTGCGGGTGGGGGTGGAGGTGGGGGTGGGGG TGCGGGGTGGGGGGTGCGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGG GTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGGTGCGGGTGGGGGGGTGGG GGGTGGGAGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGGCGGTGGGG TGGGGGTGGGGGTGCGGGGTGGGTGGTGAGGGGTGGGGGTGGGGGTGGGG GTGGGGGTGGGGGTGCGGGGTGCGGGGTGGGGGTGCGGGTGTGGCGGGTG GGGGTGGGGGGAGGGGGGTGGGGGTGGGGGTGGGGGTGCGGGGTGGGGGG GCTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGG GTGGGGGGTGGGGGTGGGGGTGGGGGTGGCGGGGTGCGGGGTGGGGGTGG GGGGTGCGGGGTGCGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2500		chr20	TogoVar
DOCK8_chr9_209865_470255	400472	C C	CCACCTCC others(622): Show CCACCTCCACCATCACCACCACCTCCACCATCACCACCACCACCTCCACC ACCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCAT CTTCACCATCACCACCACCTCCACCACCACCACCACCTCCACCATCACCA CCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACC ACCACCAGCATCTTCACCATCACCACCACCTCCACCACCACCAGCATCTT CACCATCACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCA CCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCACC ACCAGCATCTTCACCATCACCACCACCTCCACCACCACCAGCATCTTCAC CATCACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCACCA CCTCCACCATCACCACCACCTCCACCATCACCATCACCACCACCTCCACC ATCACCACCTCCTCCACCATCACCACCACCTCCACCACCACCACCTCCCC CACTACCAACAGCTCCTTCACCATCACCACAACATCCACCACCACCATCA CCACCACCACCACCACCTCCTCCACCATCA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0051 a0001c0051	a0001c0051t0004 a0001c0051t0004	a0001c0051t0004g0059 a0001c0051t0004g0059	1	256	0.0039	629	c.323 others(648): Show c.3234+1214_3234+1215insACCTCCACCATCACCACCACCTCCAC CATCACCACCACCACCTCCACCACCATCACCACCACCTCCACCATCACCA CCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCACC ACCACCACCTCCACCATCACCACCACCACCTCCACCACCACCAGCATCTT CACCATCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCA CCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCACCACC ACCACCTCCACCATCACCACCACCACCTCCACCACCACCAGCATCTTCAC CATCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCT CCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCACCACCACC ACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCAT CACCATCACCACCACCTCCACCATCACCACCTCCTCCACCATCACCACCA CCTCCACCACCACCACCTCCCCCACTACCAACAGCTCCTTCACCATCACC ACAACATCCACCACCACCATCACCACCACCACCACCACCTCCTCCACCAT CAC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400472	C C	CCTCCACC others(622): Show CCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACC ACCACCTCCACCATCACCACCTCCTTCACCATCACCACCACCACCACCTC CACTATCACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCA CCATCACCTCCACCATCACCACCACCTCCACCATCACCACCACCACCTCC ACCATCACCACCACCACCTCCACCATCACCACCTCCTTCACCATCACCAT CACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCA CCACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCACCTCC ACCATCACCACCACCACCTCCACCATCACCACCTCCTTCACCATCACCAT CACCACCACCTCCACTATCACCACCACCTCCACCATCACCACCACCACCT CCACCATCACCACCTCCTTCACCATCACCATCACCTCCACCTCCACCATC ACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCACCACCTC CACCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACCACCA CCTCCACCACCACCACCTCCTTCACCATCA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0097 a0002c0097	a0002c0097t0002 a0002c0097t0002	a0002c0097t0002g0121 a0002c0097t0002g0121	1	256	0.0039	629	c.323 others(648): Show c.3234+1214_3234+1215insTCCACCATCACCACCACCTCCACCAT CACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCTCCTTCA CCATCACCACCACCACCACCTCCACTATCACCACCACCACCTCCACCATC ACCACCACCTCCACCACCACCACCATCACCTCCACCATCACCACCACCTC CACCATCACCACCACCACCTCCACCATCACCACCACCACCTCCACCATCA CCACCTCCTTCACCATCACCATCACCATCACCACCACCTCCACCATCACC ACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCACCTC CACCATCACCACCACCACCTCCACCATCACCACCACCACCTCCACCATCA CCACCTCCTTCACCATCACCATCACCACCACCTCCACTATCACCACCACC TCCACCATCACCACCACCACCTCCACCATCACCACCTCCTTCACCATCAC CATCACCTCCACCTCCACCATCACCACCACCTCCACCACCACCACCACCT CCACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCATCACC ACCACCTCCACCACCACCACCACCTCCACCACCACCACCTCCTTCACCAT CAC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
EGFR_chr7_55014017_55216628	55167504	G G	GTGGTGGT others(622): Show GTGGTGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGTGGTG TTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGTGGTG TTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTG TTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGTGGTG TTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTG TTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTG GTGATGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGCGGTGTTGATGGTG GTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTG GTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTG GTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTG GTGATGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGTGGTGATGAGGGTG GTGATGGTGATGAGGAGGTGGGAGTCACAACGTTGGTGGTGATGATGGTG TTACTGGTGGTGACGAGGTGGGAGTCACAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0060 a0001c0004t0060	a0001c0004t0060g0108 a0001c0004t0060g0108	1	250	0.0040	629	c.188 others(648): Show c.1880+2195_1880+2196insGGAGTCACAATGGTGGTGGTGTTGAT GGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGTGGTGTTGAT GGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGAT GGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGGTGAT GGTGGTGAGGAGGTGGGAGTCACAGTGGTGGCGGTGTTGATGGTGGTGAT GGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTGAT GGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTGAT GGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTGAT GGTGGTGAGGAGGTGGGAGTCACAGTGGTGGTGGTGATGAGGGTGGTGAT GGTGATGAGGAGGTGGGAGTCACAACGTTGGTGGTGATGATGGTGTTACT GGTGGTGACGAGGTGGGAGTCACAATGGTGGTGGTGATGGTGGTGAGGAG GTGGGAGTCACAGTGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAGGAG GTGGGAGTCACAGTGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAGGAG GTG	EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	15/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIPR1_chr2_3183970_3382818	3315868	C C	CCACACCC others(622): Show CCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTAC CACCACCATCACCACCATCCCCATCCACACCCCCTACCACCATCCTCACC ACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCC ACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCA CCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCAC CATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCAC ACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACC ACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCA TCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCACACACAC CCCCTACCACCATCCTCACCACCATCCCCATCCACACCCCCTACCACCAC CATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATC CCCATCCACAGCCCCTACCACCACCATCACCACCATCCCCATCCACACCC CCTACCACCACCATCACCACCATCCCCATA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	250	0.0040	629	c.259 others(648): Show c.259+22148_259+22149insTATGGGGATGGTGGTGATGGTGGTGG TAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGA TGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGT GATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGAGGATGGTGGTA GGGGGTGTGTGTGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATG GGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGA TGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGG GGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGG GATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATG GTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGG GTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGA TGGTGGTGAGGATGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGT GGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGT GTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3315905	C C	CCACACCC others(622): Show CCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTAC CACCATCCTCACCACCATCCCCATCCACACCCCCTACCACCACCATCACC ACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCC ACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCA CCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCAC CATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCAC ACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACC ACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCA TCCCCACACACACCCCCTACCACCATCCTCACCACCATCCCCATCCACAC CCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCAC CATCACCACCATCCCCATCCACAGCCCCTACCACCACCATCACCACCATC CCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCC CCTACCACCACCATCACCACCATCCCCATA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	250	0.0040	629	c.259 others(648): Show c.259+22111_259+22112insTATGGGGATGGTGGTGATGGTGGTGG TAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGA TGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGT GATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTA GGGGGTGTGGATGGGGATGGTGGTGAGGATGGTGGTAGGGGGTGTGTGTG GGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGA TGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGG GGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGG GATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATG GTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGG GTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGA TGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGAGGAT GGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGT GTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3315905	C C	CCACACCC others(622): Show CCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTAC CACCATCCTCACCACCATCCCCATCCACACCCCCTACCACCACCATCACC ACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCC ACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCA CCACCATCACCACCATCCCTATCCACACCCCCTACCACCACCATCACCAC CATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCAC ACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACC ACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCA TCCCCACACACACCCCCTACCACCATCCTCACCACCATCCCCATCCACAC CCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCAC CATCACCACCATCCCCATCCACAGCCCCTACCACCACCATCACCACCATC CCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCC CCTACCACCACCATCACCACCATCCCCATA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	250	0.0040	629	c.259 others(648): Show c.259+22111_259+22112insTATGGGGATGGTGGTGATGGTGGTGG TAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGA TGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGT GATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTA GGGGGTGTGGATGGGGATGGTGGTGAGGATGGTGGTAGGGGGTGTGTGTG GGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGA TGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGG GGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGG GATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATAGGGATGGTGGTGATG GTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGG GTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGA TGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGAGGAT GGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGT GTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EXD3_chr9_137301896_137428162	137329429	G G	GGGGTCAC others(622): Show GGGGTCACACGGGACTACACGGGACTACACGGGGCTACACGGGGTCACAC GGGACTACACGGGACTACACGGGACTACACGGGACTACACGGGGTCACAC GGGACTACACGGGACTACACGGGACTACACGGGGTCACACGGGACTACAC GGGACTACACGGGACTACACGGGACTACACGGGGTCACACGGGACTACAC GGGACTACACGGGGCTACACGGGACTACACGGGGTCACACGGGACTACAC GGGGTCACATGGGGCTACACGGGACTACACGGGACTACACGGGACTACAC GGGGTCACACGGGACTACACGGGACTACACGGGACTACACGGGGTCACAC GGGACTACACGGGACTACACGGGGCTACACGGGACTACACGGGGTCACAC GGGACTACACGGGACTACACGGGGCTACACGGGACTACACGGGGTCACAC GGGACTACACGGGACTACACGGGGCTACACGGGACTACACGGGGTCACAC GGGACTACACGGGACTACACGGGGCTACACGGGACTACACGGGGTCACAC GGGACTACACGGGACTACACGGGACTACACGGGGCTACACGGGACTACAC GGGGTCACACGGGACTACACGGGACTACAC	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0076 a0002c0002t0001g0076	1	82	0.0122	629	c.199 others(648): Show c.1999-5287_1999-5286insGTGTAGTCCCGTGTAGTCCCGTGTGA CCCCGTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGTGTAGTCCCGTGTAG TCCCGTGTGACCCCGTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGTGTAG TCCCGTGTGACCCCGTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGTGTAG TCCCGTGTGACCCCGTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGTGTAG TCCCGTGTGACCCCGTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGTGTAG TCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTGA CCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTAGCCCCATGTGA CCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGCCCCGTGTAG TCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTAG TCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTAG TCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTAG TCCCGTGTGACCCCGTGTAGCCCCGTGTAGTCCCGTGTAGTCCCGTGTGA CCC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
F13A1_chr6_6139084_6325662	6261873	G G	GTGACCCT others(622): Show GTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGG TGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTG CTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGT GACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTG ATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCT CCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGCTGA CCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGAT TCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCC AAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACC CTCCAGGTGATTCTGATGTGCTCCAAGCGTGCTGACCCTCCAGGTGATTC TGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAA GCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCT CCAGGTGATTCTGATGTGCTCCAAGCGTGC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	292	0.0034	629	c.571 others(646): Show c.571+4684_571+4685insGCACGCTTGGAGCACATCAGAATCACCT GGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCAC GCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACAT CAGAATCACCTGGAGGGTCAGCACGCTTGGAGCACATCAGAATCACCTGG AGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGC TTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCA GAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAG GGTCAGCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTT GGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGA ATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGG TCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGG AGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAAT CACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTC A	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	4/14			chr6	TogoVar
F13A1_chr6_6139084_6325662	6262021	G G	GTGACCCT others(622): Show GTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGG TGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTG CTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGCT GACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTG ATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCT CCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGCTGA CCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGAT TCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCC AAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACC CTCCAGGTGATTCTGATGTGCTCCAAGCGTGCTGACCCTCCAGGTGATTC TGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAA GCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCT CCAGGTGATTCTGATGTGCTCCAAGCGTGC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0175 a0001c0001t0002g0175	1	292	0.0034	629	c.571 others(646): Show c.571+4536_571+4537insGCACGCTTGGAGCACATCAGAATCACCT GGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCAC GCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACAT CAGAATCACCTGGAGGGTCAGCACGCTTGGAGCACATCAGAATCACCTGG AGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGC TTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCA GAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAG GGTCAGCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTT GGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGA ATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGG TCAGCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGG AGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAAT CACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTC A	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	4/14			chr6	TogoVar
FAM234A_chr16_229821_271096	267540	C C	CATGCATG others(622): Show CATGCATGCCTCACAGTACACCTGCACACGTGCACTACACACAATCACAC GTGCTATGCATACACACCACACGTGTGCCTCACAGTGCTACACATGCCTC ATACACATGACACGTGCACACACCACATATGCATGCCTCAGTACACCTGC ACACGTGCACTAAACACAATCACACATGCTATGCGTACACACCACACGTG TGCCTCTCAGTGCTACACATGCATCCTACACGACACGTGCACACACACCA CACATGCATGCCTCACAGTACACCTGCACACGTGCACTACACACAATCAC ACATGCTATGTGTACACACCACACGTGTGCCTCACAGTGCTACACATGCC TCATACACATGACACGTGCACACACCACATATGCATGCCTCAGTACACCT GCACACGTGCACTAAACACAATCACACATGCTATGCGTACACACCACACG TGTGCCTCTCAGTGCTACACATGCATCCTACACGACACGTGCACACACAC CACACATGCATGCCTCACAGTACACCTGCACACGTGCACTACACACAATC ACACATGCTATGTGTACACACCACACGTGTGCCTCAGTGCTACACATGCC TCATACACACGACACGTGCACACACCACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0124 a0001c0001t0009g0125 a0001c0001t0009g0124 a0001c0001t0009g0125	2	408	0.0049	629	c.25 others(640): Show c.2518_*2519insATGCATGCCTCACAGTACACCTGCACACGTGCAC TACACACAATCACACGTGCTATGCATACACACCACACGTGTGCCTCACAG TGCTACACATGCCTCATACACATGACACGTGCACACACCACATATGCATG CCTCAGTACACCTGCACACGTGCACTAAACACAATCACACATGCTATGCG TACACACCACACGTGTGCCTCTCAGTGCTACACATGCATCCTACACGACA CGTGCACACACACCACACATGCATGCCTCACAGTACACCTGCACACGTGC ACTACACACAATCACACATGCTATGTGTACACACCACACGTGTGCCTCAC AGTGCTACACATGCCTCATACACATGACACGTGCACACACCACATATGCA TGCCTCAGTACACCTGCACACGTGCACTAAACACAATCACACATGCTATG CGTACACACCACACGTGTGCCTCTCAGTGCTACACATGCATCCTACACGA CACGTGCACACACACCACACATGCATGCCTCACAGTACACCTGCACACGT GCACTACACACAATCACACATGCTATGTGTACACACCACACGTGTGCCTC AGTGCTACACATGCCTCATACACACGACACGTGCACACACCACAT	FAM234A	ENSG00000167930.17	transcript	ENST00000399932.8	protein_coding		1445		chr16	TogoVar
FBN2_chr5_128252909_128543245	128539836	T T	TATGATAT others(622): Show TATGATATATATGATAGATCATATATTATATCATATATATCATATATATG AGATCATATATGATCTATCATATATATCATATCATATATATCATATCATT ATCATATATCACATATATCATATATCACATATATCACATATATCATATAT CACATATATCACATATATCATATATCACATATATCACATATATCATATAT ATCATATATCACATATATCATATATATCATATATTATATATATCATATAT CATATATATCATATATATCATATATATCATATATATCATATATATCATAT ATATCATATATATCATATATCATATATATCATATATATCATATATCATAT ATATCATATATATCATATATCATATATATCATATATATCATATATCATAT ATATCATATATATCATATATCATATATATCATATATATCATATATATTAT ATATCATATATATCATATATATTATATATCATATATCATATATATCATAT ATATTATATATCATATATCATATATATCATATATATTATATATCATATAT CATATATATCATATATATTATATATCATATATCATATATCATATATATCA TATATATTATATATCATATATCATATATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0004 a0003c0006t0004	a0003c0006t0004g0047 a0003c0006t0004g0047	1	236	0.0042	629	c.-22 others(640): Show c.-2234_-2233insTGATATATGATATATGATATATAATATATATGAT ATATATGATATATGATATATGATATATAATATATATGATATATATGATAT ATGATATATAATATATATGATATATATGATATATGATATATAATATATAT GATATATATGATATATGATATATAATATATATGATATATATGATATATAA TATATATGATATATATGATATATATGATATATGATATATATGATATATAT GATATATGATATATATGATATATATGATATATGATATATATGATATATAT GATATATGATATATATGATATATATGATATATGATATATATGATATATAT GATATATATGATATATATGATATATATGATATATATGATATATATGATAT ATGATATATATAATATATGATATATATGATATATGTGATATATGATATAT ATGATATATGTGATATATGTGATATATGATATATGTGATATATGTGATAT ATGATATATGTGATATATGTGATATATGATATATGTGATATATGATAATG ATATGATATATATGATATGATATATATGATAGATCATATATGATCTCATA TATATGATATATATGATATAATATATGATCTATCATATATATCAT	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1592		chr5	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATATAC others(622): Show GTATATACATATAAATATATATGTATATACATATAAATATATATGTATGT ATATTATATACATATAAATATATATATTTATATACATATAAATATATATA TTTATATACATATAAATATATATTTATATACATATAAATATATATATTTA TATACATATAAATATATATTTATATACATATAAATATATATTTATATACA TATAAATATATATATTTATATACATATAAATATATATATTTATATACATA TAAATATATATTTACATACATATAAATATATATTTACATACATATAAATA TATACATTTATATACATATAAATATATACATATATACATATAAATATATA TTTATATACATATAAATATATATATTTATATATATTTATATATATATAAA TATATATATATTTGTATATATATATAAATATATATATATTTATATATATA TAAATATATATATATTTATATATATATACATATAAATATATATTTATATA CATATAAATATATAATTATATACATATAAATATATAATTATATACATATA AATATATATAATTATATACATATAAATATATATTTATATACATATAAATT TATATACATATAAATATAAATATTTATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	292	0.0034	629	c.49 others(640): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATT TATATGTATATAAATATATATTTATATGTATATAATTATATATATTTATA TGTATATAATTATATATTTATATGTATATAATTATATATTTATATGTATA TAAATATATATTTATATGTATATATATATAAATATATATATATTTATATA TATATAAATATATATATATTTATATATATATACAAATATATATATATTTA TATATATATAAATATATATAAATATATATATTTATATGTATATAAATATA TATTTATATGTATATATGTATATATTTATATGTATATAAATGTATATATT TATATGTATGTAAATATATATTTATATGTATGTAAATATATATTTATATG TATATAAATATATATATTTATATGTATATAAATATATATATTTATATGTA TATAAATATATATTTATATGTATATAAATATATATTTATATGTATATAAA TATATATATTTATATGTATATAAATATATATTTATATGTATATAAATATA TATATTTATATGTATATAAATATATATATTTATATGTATATAATATACAT ACATATATATTTATATGTATATACATATATATTTATATGTATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATATAC others(622): Show GTATATACATATAAATATATATGTATATACATATAAATATATATGTATGT ATATTATATACATATAAATATATATATTTATATACATATAAATATATATA TTTATATACATATAAATATATATTTATATACATATAAATATATATATTTA TATACATATAAATATATATTTATATACATATAAATATATATTTATATACA TATAAATATATATATTTATATACATATAAATATATATTTACATACATATA AATATATATTTACATACATATAAATATATACATTTATATACATATAAATA TATACATATATACATATAAATATATATTTATATACATATAAATATATATA TTTATATACATATAAATATATATATTTATATATATTTATATATATATAAA TATATATATATTTGTATATATATATAAATATATATATATTTATATATATA TAAATATATATATATTTATATATATATACATATAAATATATATTTATATA CATATAAATATATAATTATATACATATAAATATATAATTATATACATATA AATATATATAATTATATACATATAAATATATATTTATATACATATAAATT TATATACATATAAATATAAATATTTATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	292	0.0034	629	c.49 others(640): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATT TATATGTATATAAATATATATTTATATGTATATAATTATATATATTTATA TGTATATAATTATATATTTATATGTATATAATTATATATTTATATGTATA TAAATATATATTTATATGTATATATATATAAATATATATATATTTATATA TATATAAATATATATATATTTATATATATATACAAATATATATATATTTA TATATATATAAATATATATAAATATATATATTTATATGTATATAAATATA TATATTTATATGTATATAAATATATATTTATATGTATATATGTATATATT TATATGTATATAAATGTATATATTTATATGTATGTAAATATATATTTATA TGTATGTAAATATATATTTATATGTATATAAATATATATATTTATATGTA TATAAATATATATTTATATGTATATAAATATATATTTATATGTATATAAA TATATATATTTATATGTATATAAATATATATTTATATGTATATAAATATA TATATTTATATGTATATAAATATATATATTTATATGTATATAATATACAT ACATATATATTTATATGTATATACATATATATTTATATGTATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATATAC others(622): Show GTATATACATATAAATATATATGTATGTATATTATATACATATAAATATA TATATTTATATACATATAAATATATATATTTATATACATATAAATATATA TTTATATACATATAAATATATATATTTATATACATATAAATATATATTTA TATACATATAAATATATATATTTATATACATATAAATATATATTTATATA CATATAAATATATATATTTATATACATATAAATATATATTTACATACATA TAAATATATATTTACATACATATAAATATATACATTTACATACATATAAA TATATACATATATACATATAAATATATACATATATACATATAAATATATA TTTATATACATATAAATATATATATTTATATATATTTATATATATATAAA TATATATATATTTGTATATATATATAAATATATATATATTTATATATATA TAAATATATATATATTTATATATATATACATATAAATATATATTTATATA CATATAAATATATAATTATATACATATAAATATATAATTATATACATATA AATATATATAATTATATACATATAAATATATATTTATATACATATAAATT TATATACATATAAATATAAATATTTATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	292	0.0034	629	c.49 others(640): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATT TATATGTATATAAATATATATTTATATGTATATAATTATATATATTTATA TGTATATAATTATATATTTATATGTATATAATTATATATTTATATGTATA TAAATATATATTTATATGTATATATATATAAATATATATATATTTATATA TATATAAATATATATATATTTATATATATATACAAATATATATATATTTA TATATATATAAATATATATAAATATATATATTTATATGTATATAAATATA TATTTATATGTATATATGTATATATTTATATGTATATATGTATATATTTA TATGTATGTAAATGTATATATTTATATGTATGTAAATATATATTTATATG TATGTAAATATATATTTATATGTATATAAATATATATATTTATATGTATA TAAATATATATTTATATGTATATAAATATATATATTTATATGTATATAAA TATATATTTATATGTATATAAATATATATATTTATATGTATATAAATATA TATTTATATGTATATAAATATATATATTTATATGTATATAAATATATATA TTTATATGTATATAATATACATACATATATATTTATATGTATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATATAC others(622): Show GTATATACATATAAATATATATGTATGTATATTATATACATATAAATATA TATATTTATATACATATAAATATATATATTTATATACATATAAATATATA TTTATATACATATAAATATATATATTTATATACATATAAATATATATTTA TATACATATAAATATATATTTATATACATATAAATATATATATTTATATA CATATAAATATATATTTATATACATATAAATATATATATTTATATACATA TAAATATATATTTACATACATATAAATATATATTTACATACATATAAATA TATACATTTATATACATATAAATATATACATATATACATATAAATATATA TTTATATACATATAAATATATATATTTATATATATTTATATATATATAAA TATATATATATTTGTATATATATATAAATATATATATATTTATATATATA TAAATATATATATATTTATATATATATACATATAAATATATATTTATATA CATATAAATATATAATTATATACATATAAATATATAATTATATACATATA AATATATATAATTATATACATATAAATATATATTTATATACATATAAATT TATATACATATAAATATAAATATTTATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01975.hp1 HG01358.hp1 HG01975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0120 a0002c0002t0002g0121	2	292	0.0069	629	c.49 others(640): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATT TATATGTATATAAATATATATTTATATGTATATAATTATATATATTTATA TGTATATAATTATATATTTATATGTATATAATTATATATTTATATGTATA TAAATATATATTTATATGTATATATATATAAATATATATATATTTATATA TATATAAATATATATATATTTATATATATATACAAATATATATATATTTA TATATATATAAATATATATAAATATATATATTTATATGTATATAAATATA TATTTATATGTATATATGTATATATTTATATGTATATAAATGTATATATT TATATGTATGTAAATATATATTTATATGTATGTAAATATATATTTATATG TATATAAATATATATATTTATATGTATATAAATATATATTTATATGTATA TAAATATATATATTTATATGTATATAAATATATATTTATATGTATATAAA TATATATTTATATGTATATAAATATATATATTTATATGTATATAAATATA TATTTATATGTATATAAATATATATATTTATATGTATATAAATATATATA TTTATATGTATATAATATACATACATATATATTTATATGTATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATGTAT others(622): Show GTATGTATATTATATACATATAAATATATATATTTATATACATATAAATA TATATATTTATATACATATAAATATATATTTATATACATATAAATATATA TATTTATATACATATAAATATATATTTATATACATATAAATATATATTTA TATACATATAAATATATATATTTATATACATATAAATATATATTTACATA CATATAAATATATATATTTATATACATATAAATATATATTTACATACATA TAAATATATATTTACATACATATAAATATATACATTTATATACATATAAA TATATACATATATACATATAAATATATATTTATATACATATAAATATATA TTTATATACATATAAATATATATATTTATATATATTTATATATATATAAA TATATATATATTTGTATATATATATAAATATATATATATTTATATATATA TAAATATATATATATTTATATATATATACATATAAATATATATTTATATA CATATAAATATATAATTATATACATATAAATATATAATTATATACATATA AATATATATAATTATATACATATAAATATATATTTATATACATATAAATT TATATACATATAAATATAAATATTTATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp2 NA19081.hp1 NA18991.hp2 NA19081.hp1	a0003 a0004 a0003 a0004	a0003c0010 a0004c0005 a0003c0010 a0004c0005	a0003c0010t0002 a0004c0005t0002 a0003c0010t0002 a0004c0005t0002	a0003c0010t0002g0262 a0004c0005t0002g0264 a0003c0010t0002g0262 a0004c0005t0002g0264	2	292	0.0069	629	c.49 others(640): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATT TATATGTATATAAATATATATTTATATGTATATAATTATATATATTTATA TGTATATAATTATATATTTATATGTATATAATTATATATTTATATGTATA TAAATATATATTTATATGTATATATATATAAATATATATATATTTATATA TATATAAATATATATATATTTATATATATATACAAATATATATATATTTA TATATATATAAATATATATAAATATATATATTTATATGTATATAAATATA TATTTATATGTATATAAATATATATTTATATGTATATATGTATATATTTA TATGTATATAAATGTATATATTTATATGTATGTAAATATATATTTATATG TATGTAAATATATATTTATATGTATATAAATATATATATTTATATGTATG TAAATATATATTTATATGTATATAAATATATATATTTATATGTATATAAA TATATATTTATATGTATATAAATATATATTTATATGTATATAAATATATA TATTTATATGTATATAAATATATATTTATATGTATATAAATATATATATT TATATGTATATAAATATATATATTTATATGTATATAATATACATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATGTAT others(622): Show GTATGTATATTATATACATATAAATATATATATTTATATACATATAAATA TATATATTTATATACATATAAATATATATTTATATACATATAAATATATA TATTTATATACATATAAATATATATTTATATACATATAAATATATATTTA TATACATATAAATATATATATTTATATACATATAAATATATATTTATATA CATATAAATATATATATTTATATACATATAAATATATATTTACATACATA TAAATATATATTTACATACATATAAATATATACATTTATATACATATAAA TATATACATATATACATATAAATATATATTTATATACATATAAATATATA TTTATATACATATAAATATATATATTTATATATATTTATATATATATAAA TATATATATATTTGTATATATATATAAATATATATATATTTATATATATA TAAATATATATATATTTATATATATATACATATAAATATATATTTATATA CATATAAATATATAATTATATACATATAAATATATAATTATATACATATA AATATATATAATTATATACATATAAATATATATTTATATACATATAAATT TATATACATATAAATATAAATATTTATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp2 HG04199.hp1 NA18953.hp1 others(2): Show HG04184.hp2 HG04199.hp1 NA18953.hp1 NA19066.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0002 a0001c0004t0002 a0002c0002t0002 a0001c0001t0002 a0001c0004t0002 a0002c0002t0002	a0001c0001t0002g0028 a0001c0001t0002g0075 a0001c0004t0002g0105 others(2): Show a0001c0001t0002g0028 a0001c0001t0002g0075 a0001c0004t0002g0105 a0001c0004t0002g0111 a0002c0002t0002g0109	5	292	0.0171	629	c.49 others(640): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATT TATATGTATATAAATATATATTTATATGTATATAATTATATATATTTATA TGTATATAATTATATATTTATATGTATATAATTATATATTTATATGTATA TAAATATATATTTATATGTATATATATATAAATATATATATATTTATATA TATATAAATATATATATATTTATATATATATACAAATATATATATATTTA TATATATATAAATATATATAAATATATATATTTATATGTATATAAATATA TATTTATATGTATATAAATATATATTTATATGTATATATGTATATATTTA TATGTATATAAATGTATATATTTATATGTATGTAAATATATATTTATATG TATGTAAATATATATTTATATGTATATAAATATATATATTTATATGTATA TAAATATATATTTATATGTATATAAATATATATATTTATATGTATATAAA TATATATTTATATGTATATAAATATATATTTATATGTATATAAATATATA TATTTATATGTATATAAATATATATTTATATGTATATAAATATATATATT TATATGTATATAAATATATATATTTATATGTATATAATATACATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATGTAT others(622): Show GTATGTATATTATATACATATAAATATATATATTTATATACATATAAATA TATATATTTATATACATATAAATATATATTTATATACATATAAATATATA TATTTATATACATATAAATATATATTTATATACATATAAATATATATTTA TATACATATAAATATATATATTTATATACATATAAATATATATTTATATA CATATAAATATATATATTTATATACATATAAATATATATTTACATATATA TAAATATATATTTACATACATATAAATATATACATTTATATACATATAAA TATATACATATATACATATAAATATATATTTATATACATATAAATATATA TTTATATACATATAAATATATATATTTATATATATTTATATATATATAAA TATATATATATTTGTATATATATATAAATATATATATATTTATATATATA TAAATATATATATATTTATATATATATACATATAAATATATATTTATATA CATATAAATATATAATTATATACATATAAATATATAATTATATACATATA AATATATATAATTATATACATATAAATATATATTTATATACATATAAATT TATATACATATAAATATAAATATTTATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0199 a0003c0003t0002g0199	1	292	0.0034	629	c.49 others(640): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATT TATATGTATATAAATATATATTTATATGTATATAATTATATATATTTATA TGTATATAATTATATATTTATATGTATATAATTATATATTTATATGTATA TAAATATATATTTATATGTATATATATATAAATATATATATATTTATATA TATATAAATATATATATATTTATATATATATACAAATATATATATATTTA TATATATATAAATATATATAAATATATATATTTATATGTATATAAATATA TATTTATATGTATATAAATATATATTTATATGTATATATGTATATATTTA TATGTATATAAATGTATATATTTATATGTATGTAAATATATATTTATATA TATGTAAATATATATTTATATGTATATAAATATATATATTTATATGTATA TAAATATATATTTATATGTATATAAATATATATATTTATATGTATATAAA TATATATTTATATGTATATAAATATATATTTATATGTATATAAATATATA TATTTATATGTATATAAATATATATTTATATGTATATAAATATATATATT TATATGTATATAAATATATATATTTATATGTATATAATATACATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATGTAT others(622): Show GTATGTATATTATATACATATAAATATATATATTTATATACATATAAATA TATATATTTATATACATATAAATATATATTTATATACATATAAATATATA TATTTATATACATATAAATATATATTTATATACATATAAATATATATTTA TATACATATAAATATATATTTATATACATATAAATATATATATTTATATA CATATAAATATATATTTATATACATATAAATATATATATTTATATACATA TAAATATATATTTACATACATATAAATATATATTTACATACATATAAATA TATACATTTATATACATATAAATATATACATATATACATATAAATATATA TTTATATACATATAAATATATATATTTATATATATTTATATATATATAAA TATATATATATTTGTATATATATATAAATATATATATATTTATATATATA TAAATATATATATATTTATATATATATACATATAAATATATATTTATATA CATATAAATATATAATTATATACATATAAATATATAATTATATACATATA AATATATATAATTATATACATATAAATATATATTTATATACATATAAATT TATATACATATAAATATAAATATTTATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	292	0.0034	629	c.49 others(640): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATT TATATGTATATAAATATATATTTATATGTATATAATTATATATATTTATA TGTATATAATTATATATTTATATGTATATAATTATATATTTATATGTATA TAAATATATATTTATATGTATATATATATAAATATATATATATTTATATA TATATAAATATATATATATTTATATATATATACAAATATATATATATTTA TATATATATAAATATATATAAATATATATATTTATATGTATATAAATATA TATTTATATGTATATATGTATATATTTATATGTATATAAATGTATATATT TATATGTATGTAAATATATATTTATATGTATGTAAATATATATTTATATG TATATAAATATATATATTTATATGTATATAAATATATATTTATATGTATA TAAATATATATATTTATATGTATATAAATATATATTTATATGTATATAAA TATATATTTATATGTATATAAATATATATTTATATGTATATAAATATATA TATTTATATGTATATAAATATATATTTATATGTATATAAATATATATATT TATATGTATATAAATATATATATTTATATGTATATAATATACATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
FOXK2_chr17_82514732_82609602	82586454	G G	GGGGAAAG others(622): Show GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGAGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGG GAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGG AAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGCAGGGGGGGA AAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGAAA GGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGAGGGGAAAGG AGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGCAGGGGGGGAAAGGA GGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGAAAGGAGG AGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGAAAGGAGGAG AGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGAAAGGAGGAGAG GGGAGACCACAGGGAGGTGAAAGGTGGGCAGGGGGGGAAAGGAGGAGAGG GGAGACCACAGGGAGGTGAAAGGTAGGCAGGGGGGGAAAGGAGGAGAGGG GAGACCACAGGGAGGTCAAAGGTAGGCGGA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	308	0.0033	629	c.157 others(646): Show c.1576+257_1576+258insAAAGGAGGAGAGGGGAGACCACAGGGAG GTGAAAGGTGGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGT GAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTG AAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGA AAGGTAGGCAGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAA AGGTGGGCAGTGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAG GTGGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGT AGGCAGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTG GGCAGTGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGG CAGTGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCA GTGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGG GGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGCAGGG GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTAGGCGGAGG G	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
GAK_chr4_844277_937316	926877	C C	CCTCCCCG others(622): Show CCTCCCCGCTCACCTGCGCTCCGCACTGCCCCGCACCCCTCCCGGCTCAC CTGCAGTCCGCACTGCCCCGCAACCCCCCCCACCCCGCTCACCTGCGCTC CGCACTGCCCCGCACCCCTCCCCGCTCACCTGCAGTCCGCACTGCCCCGC ACCCCTCCCCGCTCACCTGCAGTCCGCACTGCCCCACACCCCTCCCCGCT CACCTGCGCTCCGCACTGCCCCGCACCCCTCCCCGCTCACCTGCAGTCCG CACTGCCCCGCACCCCTCCCCGCTCACCTGCAGTCCGCACTGCCCCGCAC CCCTCCCCGCTCACCTGCAGTCCGCACTGCCCCGCACCCCTCCCCGCTCA CCTGCAGTCCGCACTGCCCCACACCCCTCCCCGCTCACCTGCGCTCCGCA CTGCCCCGCACCCCTCCCCGCTCACCTGCGCCCCGCACTGCCCCGCACCC CTCCCCGCTCACCTGCGGTCCGCACTGCCCCGCACCCCTCCCGGCTCACC TGCCCTCCGCACTGCCCCACACCCCTCCCCGCTCACCTGCGCTCCGCACT GCCCCACACCCCTCCCGGCTCACCTGCGCTCCGCACTGCCCCACACCCCT CCCGGCTCACCTGCGCTCCGCACTGCCCCA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0352 a0001c0001t0001g0352	1	390	0.0026	629	c.145 others(646): Show c.145+5165_145+5166insTGGGGCAGTGCGGAGCGCAGGTGAGCCG GGAGGGGTGTGGGGCAGTGCGGAGCGCAGGTGAGCCGGGAGGGGTGTGGG GCAGTGCGGAGCGCAGGTGAGCGGGGAGGGGTGTGGGGCAGTGCGGAGGG CAGGTGAGCCGGGAGGGGTGCGGGGCAGTGCGGACCGCAGGTGAGCGGGG AGGGGTGCGGGGCAGTGCGGGGCGCAGGTGAGCGGGGAGGGGTGCGGGGC AGTGCGGAGCGCAGGTGAGCGGGGAGGGGTGTGGGGCAGTGCGGACTGCA GGTGAGCGGGGAGGGGTGCGGGGCAGTGCGGACTGCAGGTGAGCGGGGAG GGGTGCGGGGCAGTGCGGACTGCAGGTGAGCGGGGAGGGGTGCGGGGCAG TGCGGACTGCAGGTGAGCGGGGAGGGGTGCGGGGCAGTGCGGAGCGCAGG TGAGCGGGGAGGGGTGTGGGGCAGTGCGGACTGCAGGTGAGCGGGGAGGG GTGCGGGGCAGTGCGGACTGCAGGTGAGCGGGGAGGGGTGCGGGGCAGTG CGGAGCGCAGGTGAGCGGGGTGGGGGGGGTTGCGGGGCAGTGCGGACTGC AGGTGAGCCGGGAGGGGTGCGGGGCAGTGCGGAGCGCAGGTGAGCGGGGA G	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GAK_chr4_844277_937316	927307	G G	GTCCGCAC others(622): Show GTCCGCACTGCCCCACACCCCTCCCGGCTCACCTGCGCTCCGCACTGCCC CGCACCCCTCCCGGCTCACCTGCAGTCCGCACTGCCCCGCACCCCTCCCG GCTCACCTGCCCTCCGCACTGCCCCGCACCCCTCCCCGCTCACCTGCAGT CCGCACTGCCCCACACCCCTCCCGGCTCACCTGCGCTCCGCACTGCCCCG CACCCCTCCCGGCTCACCTGCAGTCCGCACTGCCCCGCACCCCTCCCGGC TCACCTGCCCTCCGCACTGCCCCACACCCCTCCCGGCTCACCTGCGCTCC GCACTGCCCCGCACCCCTCCCCGCTCACCTGCAGTCCGCACTGCCCCACA CCCCTCCCGGCTCACCTGCGCTCCGCACTGCCCCGCACCCCTCCCGGCTC ACCTGCGGTCCGCACTGCCCCGCACCCCTCCCAGCTCACCTGCCCTCCGC ACTGCCCCGCACCCCTCCCAGCTCACCTGCAGTCCGCACTGCCCCACACC CCTCCCGGCTCACCTGCGCTCCGCACTGCCCCGCACCCCTCCCGGCTCAC CTGCAGTCCGCACTGCCCCGCACCCCTCCCGGCTCACCTGCCCTCCGCAC TGCCCCACACCCCTCCCGGCTCACCTGCGC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0352 a0001c0001t0001g0352	1	390	0.0026	629	c.145 others(646): Show c.145+4735_145+4736insGCGCAGGTGAGCCGGGAGGGGTGTGGGG CAGTGCGGAGGGCAGGTGAGCCGGGAGGGGTGCGGGGCAGTGCGGACTGC AGGTGAGCCGGGAGGGGTGCGGGGCAGTGCGGAGCGCAGGTGAGCCGGGA GGGGTGTGGGGCAGTGCGGACTGCAGGTGAGCTGGGAGGGGTGCGGGGCA GTGCGGAGGGCAGGTGAGCTGGGAGGGGTGCGGGGCAGTGCGGACCGCAG GTGAGCCGGGAGGGGTGCGGGGCAGTGCGGAGCGCAGGTGAGCCGGGAGG GGTGTGGGGCAGTGCGGACTGCAGGTGAGCGGGGAGGGGTGCGGGGCAGT GCGGAGCGCAGGTGAGCCGGGAGGGGTGTGGGGCAGTGCGGAGGGCAGGT GAGCCGGGAGGGGTGCGGGGCAGTGCGGACTGCAGGTGAGCCGGGAGGGG TGCGGGGCAGTGCGGAGCGCAGGTGAGCCGGGAGGGGTGTGGGGCAGTGC GGACTGCAGGTGAGCGGGGAGGGGTGCGGGGCAGTGCGGAGGGCAGGTGA GCCGGGAGGGGTGCGGGGCAGTGCGGACTGCAGGTGAGCCGGGAGGGGTG CGGGGCAGTGCGGAGCGCAGGTGAGCCGGGAGGGGTGTGGGGCAGTGCGG A	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GALNT17_chr7_71127144_71718599	71679943	T T	TCCTCCTC others(622): Show TCCTCCTCCCTCTCTCCCTTCCTCCTCCCTCTCTCCCTTCCTCCCTCCCG CTCTCTCTTCCTCCCTCCTGCTCTCTCTTCCTCCCTCCCTCTCTCCCTTC CTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTGTCTTCCTCCCTCCCT CTCTCCCTTCCTCCCTCCCGCTCTCTCTTCCTCCCTCCCTCTCTCCCTTC CTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCTCTTCCTCCCTCCCT CTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCTCTTC CTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCT CTCTCCCTTCCTCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTC CTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCT GTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCC CTCCCTGTCTTCCTCCCTCCCTCTCTCTCTTCCTCCCTCCCTCTCTCCCT TCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCT CTCCTTCCTCCCTCCCTCTCTCCCTTCCTC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0023 a0001c0005t0008g0023	1	76	0.0132	629	c.150 others(648): Show c.1500+2642_1500+2643insTCCCTCTCTCCCTTCCTCCTCCCTCT CTCCCTTCCTCCCTCCCGCTCTCTCTTCCTCCCTCCTGCTCTCTCTTCCT CCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCC CTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCGCTCTCTCTTCCT CCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCT CTCTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCT CCCTCCCTCTCTCTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCT CTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTGTCTTCCT CCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCT CTCCCTTCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCT CCCTCTCTCCCTTCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCTCTTC CTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCT CTCTCCCTTCCTCCCTCTCTCCTTCCTCCCTCCCTCTCTCCCTTCCTCCC TCC	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
IFFO2_chr1_18899280_18961676	18926001	T T	TGGATGGA others(622): Show TGGATGGATGGCTGGATGGATGGATGGATGGATGGATTGGTTGGATGGAT GGATGGATGGTTGGATGGATGGATGGATGGATGGTTGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATG GAGGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGTTGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATG GATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGA TGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATT GGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTG GATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGTTGGATGG ATGGATGGATGGATTGGTTGGATGGATGGA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0236 a0001c0001t0003g0236	1	376	0.0027	629	c.666 others(646): Show c.666-4881_666-4880insTCCATCCATCCAACCAATCCATCCATCC ATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCAACCAATCCA TCCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAA CCAATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATC CATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCA TCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCAACCAACCAACCAATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCAACC ATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCC TCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCAACCATCCAT CCATCCATCCAACCAATCCATCCATCCATCCATCCATCCAGCCATCCATC C	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFNAR1_chr21_33319970_33364864	33322754	A A	ATGGAATA others(622): Show ATGGAATATATATATATGGAATATATATATATGGAATATATATATATGGA ATATATATATATGGAATATATATATGGAATATATATATATGGAATATATA TATATGGAATATATATATATGGAATATATATATATGGAATATATATATAT GGAATATATATATGGAATATATATATATGGAATATATATATATGGAATAT ATATATATGGAATATATATATATGGAATATATATATATGGAATATATATA TATGGAATATATATATGGAATATATATATATGGAATATATATATGGAATA TATATATATGGAATATATATATGGAATATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATATGGAATATATATATATGGA ATATATATATATGGAATATATATATATGGAATATATATATGGAATATATA TATATGGAATATATATATGGAATATATATACATGGAATATATATACATGG AATATATATACATGGAATATATATACATGGAATATATATACATGGAATAT ATATACATGGAATATATACATGGAATATATATATGGAATGTTTATATGGA ATATATATATGGAATATATATATATGGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	323	0.0031	629	c.-23 others(640): Show c.-2302_-2301insTGGAATATATATATATGGAATATATATATATGGA ATATATATATATGGAATATATATATATGGAATATATATATGGAATATATA TATATGGAATATATATATATGGAATATATATATATGGAATATATATATAT GGAATATATATATATGGAATATATATATGGAATATATATATATGGAATAT ATATATATGGAATATATATATATGGAATATATATATATGGAATATATATA TATGGAATATATATATATGGAATATATATATGGAATATATATATATGGAA TATATATATGGAATATATATATATGGAATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATATGGAATATATATATATGGA ATATATATATATGGAATATATATATATGGAATATATATATATGGAATATA TATATGGAATATATATATATGGAATATATATATGGAATATATATACATGG AATATATATACATGGAATATATATACATGGAATATATATACATGGAATAT ATATACATGGAATATATATACATGGAATATATACATGGAATATATATATG GAATGTTTATATGGAATATATATATGGAATATATATATATGGAAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2215		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322909	T T	TAATATAT others(622): Show TAATATATATATATATGGAATATATATATACGGAATGTATATATAATATA TATATATGGAATATATATATACGGAATGTATATATAATATATATACGGAA TATATATATACGGAATGTATATATAATATATATACGGAATATATATATAC GGAATGTATATATAATATATATACGGAATATATATATACGGAATGTATAT ATAATATATATACGGAATATATATATACGGAATGTATATATAATATATAT ACGGAATATATATATACGGAATGTATATATAATATATATACGGAATATAT ATATACGGAATGTATATATAATATATATACGGAATATATATATACGGAAT GTATATATAATATATATACGGAATATATATATACGGAATGTATATATAAT ATATATACGGAATATATATATACGGAATGTATATATAATATATATACGGA ATATATATATACGGAATGTATATATAATATATATACGGAATGTATATATA CGGAATGTATATATATGGAATATATATACGGAATGTATATATATGGAATG TATATACGGAATGTATATATATGGAATGTATATATATGGAATATATATAT GGAATATATATATATGGAATATATATATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	323	0.0031	629	c.-21 others(640): Show c.-2147_-2146insAATATATATATATATGGAATATATATATACGGAA TGTATATATAATATATATATATGGAATATATATATACGGAATGTATATAT AATATATATACGGAATATATATATACGGAATGTATATATAATATATATAC GGAATATATATATACGGAATGTATATATAATATATATACGGAATATATAT ATACGGAATGTATATATAATATATATACGGAATATATATATACGGAATGT ATATATAATATATATACGGAATATATATATACGGAATGTATATATAATAT ATATACGGAATATATATATACGGAATGTATATATAATATATATACGGAAT ATATATATACGGAATGTATATATAATATATATACGGAATATATATATACG GAATGTATATATAATATATATACGGAATATATATATACGGAATGTATATA TAATATATATACGGAATATATATATACGGAATGTATATATAATATATATA CGGAATGTATATATACGGAATGTATATATATGGAATATATATACGGAATG TATATATATGGAATGTATATACGGAATGTATATATATGGAATGTATATAT ATGGAATATATATATGGAATATATATATATGGAATATATATATGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2060		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322909	T T	TACGGAAT others(622): Show TACGGAATATATATACGGAATGTATATACGGAATATATATACGGAATGTA TATACGGAATATATATACGGAATGTATATATACGGAATATATATATACGG AATGTATATATACGGAATGTATATATACGGAATATATATATACGGAATAT ATATACGGAATATATATATACGGAATATATATATACGGAATATATATATA CGGAATATATATATACGGAATATATATATACGGAATATATATATACGGAA TATATATATACGGAATATATATATACGGAATATATATATACGGAATATAT ATATACGGAATATATATATGGAATATATATATACGGAATATATATATGGA ATATATATATACGGAATATATATATGGAATATATATATACGGAATATATA TATATGGAATATATATATACGGAATATATATATATGGAATATATATATAT GGAATATATATATATGGAATGTATATATGTGGAATGTATATATGTGGAAT GTATATATGTGGAATGTATATATGTGGAATGTATATATGTGGAATGTATA TATGTGGAATGTATATATGTGGAATGTATATATGTGGAATGTATATGTGG AATGTATATATGTGGAATGTATATATATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0128 a0001c0001t0043g0128	1	323	0.0031	629	c.-21 others(640): Show c.-2147_-2146insACGGAATATATATACGGAATGTATATACGGAATA TATATACGGAATGTATATACGGAATATATATACGGAATGTATATATACGG AATATATATATACGGAATGTATATATACGGAATGTATATATACGGAATAT ATATATACGGAATATATATACGGAATATATATATACGGAATATATATATA CGGAATATATATATACGGAATATATATATACGGAATATATATATACGGAA TATATATATACGGAATATATATATACGGAATATATATATACGGAATATAT ATATACGGAATATATATATACGGAATATATATATGGAATATATATATACG GAATATATATATGGAATATATATATACGGAATATATATATGGAATATATA TATACGGAATATATATATATGGAATATATATATACGGAATATATATATAT GGAATATATATATATGGAATATATATATATGGAATGTATATATGTGGAAT GTATATATGTGGAATGTATATATGTGGAATGTATATATGTGGAATGTATA TATGTGGAATGTATATATGTGGAATGTATATATGTGGAATGTATATATGT GGAATGTATATGTGGAATGTATATATGTGGAATGTATATATATGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2060		chr21	TogoVar
IGLON5_chr19_51306644_51335891	51310531	A A	AGGGTCTG others(622): Show AGGGTCTGAGGGAGGAGGGACTGGGGACCTGGACTCCTGGGTCTGAGGGA GGAGGGGCTGGGGGCCTGGACTCCTAGGTCTGAGGGAGGAGGGGCTGGGG GCCTGGACTCCTAGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAG GGTCTGAGGGAGGAGGGACTGGGGACCTGGACTCCTGGGTCTGAGGGAGG AGGGGCTGGGGGCCTGGACTCCTAGGTCTGAGGGAGGAGGAACTGGGGAC CTGGACTCCTGGGCCTGAGGGAGGAGGGGCTGGGGACCTGGACTCCTGGC TCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAG GAGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCT GGACTCCTGGGTCTGAGGGACGAGGGGCTGGGGGCCTGGGCTCCAGGGTC TGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGG GCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGG GCTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTG AGGGAGGAGGGGCTGGGGGCCTGGACTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	418	0.0024	629	c.-13 others(640): Show c.-1317_-1316insGGGTCTGAGGGAGGAGGGACTGGGGACCTGGACT CCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTAGGTCTGAGG GAGGAGGGGCTGGGGGCCTGGACTCCTAGGTCTGAGGGAGGAGGGGCTGG GGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGACTGGGGACCTGGACTCC TGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTAGGTCTGAGGGA GGAGGAACTGGGGACCTGGACTCCTGGGCCTGAGGGAGGAGGGGCTGGGG ACCTGGACTCCTGGCTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAG GGTCTGAGGGAGGAGGAGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGG AGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGACGAGGGGCTGGGGGC CTGGGCTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGG TCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAG GGGCTGGGGGCCTGGGCTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCT GGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCT	IGLON5	ENSG00000142549.10	transcript	ENST00000270642.9	protein_coding		1112		chr19	TogoVar
INPP5D_chr2_233055342_233212903	233176499	G G	GGATGGAG others(622): Show GGATGGAGGGACGGATGGATGAATGGGTAGGTGGGTGGGCGGATGGGTGA ATGGGTAGGTGGGTGGGCGGATGGATGGATGGATGAGTAGATGGATGGAT GAACAGGAGAATGGGTGGATGGATGGATGGATGGATGAATGGATGAACAG ATGGTTGGATGGATGAATAGGCGAATGGATAGGTGGGTGGGTGGATGGAT GGATAGATGGATGGATGTGTGGGTGGGTGAATGGATGGATGGATGGGTGG ATAGGTGGATGAATGGATGAATAGATGGAAGGATGGATAGATGGATGGAT AGGTGAATGGGTAGGTGGGTGGGCAGATGGATGGATGGATGGATGGATGA GTAGATGAATGGATGAATAGGAGAATGGGTAGATGGGTGGGTGGATGGAT GGATGTGTGGGTGGGTGGAGGGAAGGATGGATGGATGGATAAATGGATGG ATAGGTGGATGGGTGGATGGAGGGATGGATGGATGGATAGGTAAATGGGT AGGTGGGTGGGCGGAGGGATGGATGGATGGATGGATGGATGGATGGATAG GTGAAGGTTAGATGGGTGGGGCGGAGGGATGGATGGATGGATGGATAGGT GGATGAATGGATGAATAGATGGATGGATGA	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0057 a0001c0001t0004g0057	1	310	0.0032	629	c.199 others(646): Show c.1990-766_1990-765insGATGGAGGGACGGATGGATGAATGGGTA GGTGGGTGGGCGGATGGGTGAATGGGTAGGTGGGTGGGCGGATGGATGGA TGGATGAGTAGATGGATGGATGAACAGGAGAATGGGTGGATGGATGGATG GATGGATGAATGGATGAACAGATGGTTGGATGGATGAATAGGCGAATGGA TAGGTGGGTGGGTGGATGGATGGATAGATGGATGGATGTGTGGGTGGGTG AATGGATGGATGGATGGGTGGATAGGTGGATGAATGGATGAATAGATGGA AGGATGGATAGATGGATGGATAGGTGAATGGGTAGGTGGGTGGGCAGATG GATGGATGGATGGATGGATGAGTAGATGAATGGATGAATAGGAGAATGGG TAGATGGGTGGGTGGATGGATGGATGTGTGGGTGGGTGGAGGGAAGGATG GATGGATGGATAAATGGATGGATAGGTGGATGGGTGGATGGAGGGATGGA TGGATGGATAGGTAAATGGGTAGGTGGGTGGGCGGAGGGATGGATGGATG GATGGATGGATGGATGGATAGGTGAAGGTTAGATGGGTGGGGCGGAGGGA TGGATGGATGGATGGATAGGTGGATGAATGGATGAATAGATGGATGGATG A	INPP5D	ENSG00000168918.14	transcript	ENST00000445964.6	protein_coding	17/26			chr2	TogoVar
INSR_chr19_7107265_7299414	7153470	A A	ACACACAC others(622): Show ACACACACCATACACGCACCACACACACACTACATGCACACCTCACACAC CACACCACACACCGCACACACACCACACAAATCACACACACACCACACAC ACCCACGCCACACACCACAGACCACACACACCACACACCCCACACACACC ACACACCACACACACCAAACACACCATACATGCACCACACAACCACATGC ACACCTCACACACCATACCACACACCACACACACCACACAAATCACACAC ATACTACACACACCCACGCCACACACCACACACACACCACACACGCCACA CAACGGACCACACATACACCACACACCACAAACACAACCACACACACACT ATACACACACACCACACACACCACACAACAGACCACACATACACACACCA CACACCACACACACCATACACACACACCACACATACCACACACACCACAC ACACAACCACACACACACACCACACACACAACACACAACAGACCACACAT ACACACACCACAAACACAACCACACACACCACACCATACACACACACCAT ACACGCACCACACACACACCACATACACACTTCACACACACCACACACCA CACAAATCACACACACCACCACACCCACGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG00621.hp1 others(68): Show HG00099.hp1 HG00423.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01361.hp1 HG01361.hp2 HG01884.hp1 HG01934.hp1 HG01943.hp2 HG01978.hp2 HG02004.hp1 HG02135.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp2 HG02970.hp1 HG03017.hp1 HG03239.hp2 HG03490.hp1 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18747.hp2 NA18960.hp1 NA18985.hp2 NA18998.hp1 NA19002.hp1 NA19011.hp2 NA19030.hp2 NA19065.hp1 NA19065.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(19): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0011 a0001c0013 a0001c0014 a0001c0015 a0001c0016 a0001c0024 a0001c0035 a0001c0045 a0001c0047 a0001c0052 a0001c0053 a0002c0020 a0007c0036 a0008c0032	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(56): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0038 a0001c0001t0050 a0001c0001t0067 a0001c0001t0070 a0001c0001t0081 a0001c0001t0086 a0001c0001t0111 a0001c0001t0116 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0036 a0001c0002t0083 a0001c0002t0108 a0001c0002t0114 a0001c0002t0170 a0001c0003t0001 a0001c0003t0003 a0001c0003t0066 a0001c0003t0132 a0001c0004t0068 a0001c0005t0002 a0001c0005t0043 a0001c0005t0104 a0001c0005t0121 a0001c0006t0011 a0001c0006t0075 a0001c0006t0166 a0001c0007t0001 a0001c0007t0120 a0001c0007t0137 a0001c0009t0001 a0001c0009t0003 a0001c0011t0001 a0001c0013t0017 a0001c0013t0135 a0001c0014t0034 a0001c0014t0136 a0001c0015t0001 a0001c0016t0003 a0001c0016t0056 a0001c0016t0057 a0001c0024t0023 a0001c0035t0003 a0001c0045t0003 a0001c0047t0158 a0001c0052t0014 a0001c0053t0157 a0002c0020t0001 a0007c0036t0131 a0008c0032t0106	a0001c0001t0001g0210 a0001c0001t0001g0228 a0001c0001t0002g0015 others(68): Show a0001c0001t0001g0210 a0001c0001t0001g0228 a0001c0001t0002g0015 a0001c0001t0002g0040 a0001c0001t0007g0155 a0001c0001t0007g0229 a0001c0001t0007g0264 a0001c0001t0008g0134 a0001c0001t0009g0243 a0001c0001t0011g0060 a0001c0001t0014g0125 a0001c0001t0014g0188 a0001c0001t0015g0141 a0001c0001t0038g0182 a0001c0001t0038g0262 a0001c0001t0050g0023 a0001c0001t0067g0069 a0001c0001t0070g0054 a0001c0001t0081g0165 a0001c0001t0086g0226 a0001c0001t0111g0202 a0001c0001t0116g0198 a0001c0002t0001g0122 a0001c0002t0001g0154 a0001c0002t0001g0156 a0001c0002t0002g0005 a0001c0002t0004g0261 a0001c0002t0036g0253 a0001c0002t0083g0227 a0001c0002t0108g0123 a0001c0002t0114g0138 a0001c0002t0170g0295 a0001c0003t0001g0230 a0001c0003t0003g0222 a0001c0003t0003g0280 a0001c0003t0066g0050 a0001c0003t0132g0207 a0001c0004t0068g0073 a0001c0005t0002g0066 a0001c0005t0043g0056 a0001c0005t0104g0153 a0001c0005t0121g0097 a0001c0006t0011g0001 a0001c0006t0075g0084 a0001c0006t0166g0296 a0001c0007t0001g0168 a0001c0007t0001g0269 a0001c0007t0001g0273 a0001c0007t0120g0180 a0001c0007t0137g0267 a0001c0009t0001g0271 a0001c0009t0003g0258 a0001c0011t0001g0216 a0001c0011t0001g0217 a0001c0013t0017g0279 a0001c0013t0135g0171 a0001c0014t0034g0169 a0001c0014t0136g0142 a0001c0015t0001g0194 a0001c0016t0003g0206 a0001c0016t0056g0002 a0001c0016t0057g0010 a0001c0024t0023g0032 a0001c0035t0003g0246 a0001c0045t0003g0275 a0001c0047t0158g0288 a0001c0052t0014g0219 a0001c0053t0157g0287 a0002c0020t0001g0212 a0007c0036t0131g0178 a0008c0032t0106g0160	71	300	0.2367	629	c.203 others(646): Show c.2030-544_2030-543insGCGTGGGTGTGGTGGTGTGTGTGATTTG TGTGGTGTGTGGTGTGTGTGAAGTGTGTATGTGGTGTGTGTGTGGTGCGT GTATGGTGTGTGTGTATGGTGTGGTGTGTGTGGTTGTGTTTGTGGTGTGT GTATGTGTGGTCTGTTGTGTGTTGTGTGTGTGGTGTGTGTGTGTGGTTGT GTGTGTGGTGTGTGTGGTATGTGTGGTGTGTGTGTATGGTGTGTGTGGTG TGTGGTGTGTGTATGTGTGGTCTGTTGTGTGGTGTGTGTGGTGTGTGTGT ATAGTGTGTGTGTGGTTGTGTTTGTGGTGTGTGGTGTATGTGTGGTCCGT TGTGTGGCGTGTGTGGTGTGTGTGTGGTGTGTGGCGTGGGTGTGTGTAGT ATGTGTGTGATTTGTGTGGTGTGTGTGGTGTGTGGTATGGTGTGTGAGGT GTGCATGTGGTTGTGTGGTGCATGTATGGTGTGTTTGGTGTGTGTGGTGT GTGGTGTGTGTGGGGTGTGTGGTGTGTGTGGTCTGTGGTGTGTGGCGTGG GTGTGTGTGGTGTGTGTGTGATTTGTGTGGTGTGTGTGCGGTGTGTGGTG TGGTGTGTGAGGTGTGCATGTAGTGTGTGTGTGGTGCGTGTATGGTGTGT G	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	9/21			chr19	TogoVar
LHPP_chr10_124456823_124619141	124471506	A A	ATATATAA others(622): Show ATATATAAATTTTTTTATATTTATATATTTTTTATATATTTATATATATT ACATATATTTTTATATTTTATATATATTTATATATTTTATATATTTATAT ATTTTTTATATATTTATATATTTATATATATATTTATATATATTTATGTA TATTTATATATATATTTATATATATTTATGTATATTTATATATATATTTA TATATATTTATGTATATTTATATATATATTTATATATATTTATGTATATT TATATATATTTATATATTTATGTCTATATTTATATATATTTATATATTTA TGTATAAATTTATATATATTTATATGTATTTATATATATATTTATATGTA TTTATATATATTTATATATTTATATGTATTTATACATATATATTTATATG TATTTATATATATTTATATATATTTTTTATGTATTTATATATATTTATAT ATATATTTATATATATTTATATATATATTTATATATATTTATATATATAT TTATATATATTTATATATATATTTATATATATTTATATATATATTTATAT ATATTTATATATATATTTATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATTTATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0058 a0002c0002t0001g0058	1	260	0.0039	629	c.125 others(646): Show c.125+9520_125+9521insATATAAATTTTTTTATATTTATATATTT TTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTTA TATATTTTATATATTTATATATTTTTTATATATTTATATATTTATATATA TATTTATATATATTTATGTATATTTATATATATATTTATATATATTTATG TATATTTATATATATATTTATATATATTTATGTATATTTATATATATATT TATATATATTTATGTATATTTATATATATTTATATATTTATGTCTATATT TATATATATTTATATATTTATGTATAAATTTATATATATTTATATGTATT TATATATATATTTATATGTATTTATATATATTTATATATTTATATGTATT TATACATATATATTTATATGTATTTATATATATTTATATATATTTTTTAT GTATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATATTTAT ATATATTTATATATATATTTATATATATTTATATATATTTATATATATAT T	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(622): Show CCACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGCC ACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACC CGGGCCACTTACTTACTACATACCCGGGCCACGTACTTACTACATACCGG GCCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACAT ACCCGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACCTACTAC ATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACC TACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA CTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGC CGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATAC CCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACT ACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTA CCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCT TACTTACCTACTACATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0029 a0003c0005t0002g0029	1	296	0.0034	629	c.368 others(646): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAG TAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGT ATGTAGTAGGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGG GTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTG GCCCGGTATGTAGTAAGTACGTGGCCCGGGTATGTAGTAAGTAAGTGGCC CGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAA GTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGT G	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(622): Show AAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAA GGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGAGGGG GAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCAGGGGGAAGGGGGAAAGGG GTGGGGGGAAAGGGGGAAGGGGAAAGGGGTGAGGGGAAAGGGGGAAGGGG GAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGGAGGGGGGAGGG GAGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGGAG GGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAG GGGGAGGGGAGGGGGGGGAAGGGAGGGGGGAGGGGAGGGGGAGGGAAGAG GGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGGGAGGGGGAGGGAAGGG AGGGAGGGGAGGGGGAGGGAGGGGAGGGAGGGGAGGGGGAGGGAGGGGAG GGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGG GGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAG GGGGAGGGAGGGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0010 a0003c0003t0007g0010	1	272	0.0037	629	c.250 others(644): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCC CTCCCCTCCCTCCCCCTCCCCTCCCTCCCCTCCCTCCCCCTCCCCTCCCT CCCTTCCCTCCCCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCC CTCTTCCCTCCCCCTCCCCTCCCCCCTCCCTTCCCCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCC CTCCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCCTCCCCCTCCATCCTCCCCTCACCCCTTTC CCCCTTCCCCCTTTCCCCTCACCCCTTTCCCCTTCCCCCTTTCCCCCCAC CCCTTTCCCCCTTCCCCCTGCCCCTTTTCCCCCCTTCCCCGCCCCTTTTC CCCCTCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCGCCTTCCTCC TTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MPG_chr16_73225_90846	81854	G G	CGCGCTGA others(622): Show CGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAA TGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCC TCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGG GAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTA CCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCAC CACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTC TTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGA CCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCC GCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAAT GCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCAGGAAGCCCT CCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGG AAGGCCTCCTGAATGCTCCCGGCGCTGACCCCTTCTTCCCACCACCCTAT CTCCGGGAAGGCCTCCTGAATACTCCCCCG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0091 a0001c0002t0001g0091	1	442	0.0023	629	c.301 others(646): Show c.301-1199_301-1198insCGCGCTGACCCCTTCTTCCCACCACCCT ACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCA CCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTT CTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTG ACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCC CGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAA TGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCC TCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGG GAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTA CCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCAC CACCCTACCTCCAGGAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTC TTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCGGCGCTGA CCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATACTCCCC C	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3			chr16	TogoVar
MTERF3_chr8_96234402_96266610	96250610	T T	TGAGGAGG others(622): Show TGAGGAGGAGGAAGAAGAAGAAAGAAGAAGAAGAAGAAGAAGAAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAGGAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAAGAG GAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGA AGAGGAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAAGAGG AGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAA GAGGAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAAGAGGA GGAAGAGGAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAAG AGGAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAAGAGGAG GAAGAGGAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAAGA GGAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAAGAAGAAGAAGAGGAAGAGGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	294	0.0034	629	c.677 others(644): Show c.677+295_677+296insTTCTTCTTCCTCTTCCTCTTCTTCTTCTTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCTTCCTCCTCTTCCTCC TCTTCCTCCTCTTCCTCCTCTTCCTCCTCTTCCTCCTCTTCCTCCTCTTC CTCCTCTTCCTCCTCTTCCTCCTCTTCCTCCTCTTCCTCCTCTTCCTCCT CTTCCTCCTCTTCCTCCTCTTCCTCCTCTTCCTCCTCTTCCTCCTCTTCC TCCTCTTCCTCCTCTTCCTCCTCTTCCTCCTCTTCCTCCTCTTCCTCCTC TTCCTCCTCTTCCTCCTCTTCCTCCTCTTCCTCCTCTTCCTCCTCTTCCT CCTCTTCCTCCTCTTCCTCCTCTTCCTCCTCTTCCTCCTCTTCCTCCTCT TCCTCCTCTTCCTCCTCTTCCTCCTCTTCCTCCTCTTCCTCCTCTTCCTC CTCTTCCTCCTCTTCCTCCTCTTCCTCCTCTTCCTCCTCTTCCTCCTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTTCTTCTTCTTCTTCTTCTTCTTTCTTCTTCTTCCTCCTCCTC	MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7			chr8	TogoVar
MYNN_chr3_169768396_169794716	169770602	A A	AATATAAA others(622): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAAT TTATATTTATATATCATAAATATATAAAAATTTATATTTATATATCATAA ATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTTATATATC ATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATA TATCATATATAAAAATTTATATTTATATATCATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATT TATATTTATATATCATATATAAAAATTTATATATATCATATATAAAAATT TATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAA AATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATA TAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCA TATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATAT ATCATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	1	350	0.0029	629	c.-28 others(640): Show c.-2892_-2891insATATAAATATATAAAAATTTATATTTATATATCA TAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAATTTAT ATTTATATATCATAAATAAAAATTTATATTTATATATCATAAATAAAAAT TTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT AAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCAT ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATT TATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAA AATTTATATTTATATATCATATATAAAAATTTATATTTATATATC	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2793		chr3	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAC others(622): Show CTGTATACAGCATGTATACTGTATACAGCATGTATACTGTATACAGCATG TATACTGTATACAGCATGTATACTGTATGTATGTATACTGTATGTATGTA TACTGTATGTATGTATACCGTATATATACACAGTATGTATACCGTATATA TACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATATATA CACAGTATGTATACCGTATATATACACAGTATGTATACCGTATATATACA CAGTATGTATACCGTATATATACACAGTATGTATACTGTGTATATATACA CAGTATGTATACTGCATGCAGTATGTATACTGTATACATACTGCATGCAG TATGTATACTGTATACATACTGCATGCAGTATGTATACTGTATATATACA CTATACAGTATGTATACTGTATATATACACTATACAGTATGTATACTGTA TATATACACAATACAGTATGTATACTGTATATATACACAATACAGTATGT ATACTGTATATATACACAATACAGTATGTATACTGTATATATACACACAG TATGTATACTGTATATATACACACAGTATGTATACTGTATATATACACAC AGTATGTATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0013 a0001c0001t0006g0013	1	362	0.0028	629	c.-75 others(648): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTATTGTGTATATATACA GTATACATACTGTATTGTGTATATATACAGTATACATACTGTATTGTGTA TATATACAGTATACATACTGTATAGTGTATATATACAGTATACATACTGT ATAGTGTATATATACAGTATACATACTGCATGCAGTATGTATACAGTATA CATACTGCATGCAGTATGTATACAGTATACATACTGCATGCAGTATACAT ACTGTGTATATATACACAGTATACATACTGTGTATATATACGGTATACAT ACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACATAC TGTGTATATATACGGTATACATACTGTGTATATATACGGTATACATACTG TGTATATATACGGTATACATACTGTGTATATATACGGTATACATACATAC AGTATACATACATACAGTATACATACATACAGTATACATGCTGTATACAG TATACATGCTGTATACAGTATACATGCTGTATACAGTATACATGCTGTAT ACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NKAIN2_chr6_123798865_124830640	124687570	T T	TTCCATAT others(622): Show TTCCATATATATACATACATGGTATATATTCCATATATATACATACATGG TATATATTCCATATATATACATACATGGTATATATTCCATATATATACAT ACATGGTATATATTCCATATATACATACATGGTATATATTCCTATATATA CATACATGGTATATATTCCATATATATACATACATGGTATATATTCCATA TATATATATACATACATGGTATATATACATACATGGTATATATTCCTATA TATACATACATGGTATATATTCCATATATATATACATACATGGTATATAT TCCATATATATACATACATGGAATATATATATTCCATATATACATATATA TATTCCATATATACACATATATATATTCCATATATACACATATACATGGA ATATATATCTGTATATATATGGAATATATATATATGTATATATATGGAAT ATATATGTATATGTATTTATATTATGTATTTATATTATAAATATATATTA TGTATATATATTTATATTATAAATATATATTATGTATATATATTTATATT ATAAATATATATTATGTATATATATTTATATTATAAATATATATTATGTA TATATATTTATATTATAAATATATATTATG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0020 a0001c0002t0005g0020	1	66	0.0152	629	c.474 others(648): Show c.474+29184_474+29185insTCCATATATATACATACATGGTATAT ATTCCATATATATACATACATGGTATATATTCCATATATATACATACATG GTATATATTCCATATATATACATACATGGTATATATTCCATATATACATA CATGGTATATATTCCTATATATACATACATGGTATATATTCCATATATAT ACATACATGGTATATATTCCATATATATATATACATACATGGTATATATA CATACATGGTATATATTCCTATATATACATACATGGTATATATTCCATAT ATATATACATACATGGTATATATTCCATATATATACATACATGGAATATA TATATTCCATATATACATATATATATTCCATATATACACATATATATATT CCATATATACACATATACATGGAATATATATCTGTATATATATGGAATAT ATATATATGTATATATATGGAATATATATGTATATGTATTTATATTATGT ATTTATATTATAAATATATATTATGTATATATATTTATATTATAAATATA TATTATGTATATATATTTATATTATAAATATATATTATGTATATATATTT ATATTATAAATATATATTATGTATATATATTTATATTATAAATATATATT ATG	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	4/6			chr6	TogoVar
NME4_chr16_392199_405754	397726	C C	CGGGGGGT others(622): Show CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGGTGAGGGAGTCGGGGGGTGG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0198 a0001c0002t0001g0198	1	356	0.0028	629	c.91+ others(642): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NPRL3_chr16_80386_143673	81854	G G	CGCGCTGA others(622): Show CGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAA TGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCC TCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGG GAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTA CCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCAC CACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTC TTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGA CCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCC GCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAAT GCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCAGGAAGCCCT CCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGG AAGGCCTCCTGAATGCTCCCGGCGCTGACCCCTTCTTCCCACCACCCTAT CTCCGGGAAGGCCTCCTGAATACTCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0022 a0002c0003t0022	a0002c0003t0022g0347 a0002c0003t0022g0347	1	350	0.0029	629	c.48 others(640): Show c.4851_*4852insGGGGGAGTATTCAGGAGGCCTTCCCGGAGATAGG GTGGTGGGAAGAAGGGGTCAGCGCCGGGAGCATTCAGGAGGCCTTCCCGG AGGTAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGGC TTCCTGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCA GGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGA GCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGC GCGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGG GGTCAGCGCGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGG AAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGG TGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGCCTTCCCGGA GGTAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGCCT TCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAG GAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGCGCG	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding		3532		chr16	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(622): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGT TTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGTTT TAAACTAGTTTATATAGTTTAAAACTATATAGTTTATATAGTTTAAAACT ATATAGTTTATATAGTTTAAAACTATATAGTTTATATAGTTTAAAACTAT AGTTTATATAGTTTAAAACTATATAGTTTATATAGTTTAAAACTATATAG TTTATATAGTTTAAAACTATAGTTTATATAGTTTAAAACTATATAGTTTA TATAGTTTTAAACTATATAGTTTAAACTATATAGTTTTAAACTATATAAA CTATATAGTTTTAAACTAGTTTATATATAGTTTTAAACTAGTTTAAACTA TATAGTTTATGTAGTTTTAAACTATATAGTTTATGTAGTTTTAAACTATA TAGTTTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAAC TATATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTCATGTAGTTTT AAACTATATAGTTTAAAACTATATAGTTTATGTAGTTTTAAACTAGTTTA TATTTTTTTATATAGTTTAAACTATATAGT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02615.hp2 HG02723.hp2 others(3): Show HG02055.hp1 HG02615.hp2 HG02723.hp2 NA18522.hp1 NA19030.hp1 NA19240.hp1	a0002 a0002	a0002c0001 a0002c0007 a0002c0001 a0002c0007	a0002c0001t0001 a0002c0007t0001 a0002c0001t0001 a0002c0007t0001	a0002c0001t0001g0208 a0002c0001t0001g0209 a0002c0001t0001g0210 others(3): Show a0002c0001t0001g0208 a0002c0001t0001g0209 a0002c0001t0001g0210 a0002c0001t0001g0211 a0002c0001t0001g0212 a0002c0007t0001g0207	6	244	0.0246	629	c.342 others(648): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA AATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATA GTTTAAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTA TATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAA ACTATATAGTTTAAAACTACATAAACTATATAGTTTAAAACTACATAAAC TATATAGTTTAAACTAGTTTAAAACTATATATAAACTAGTTTAAAACTAT ATAGTTTATATAGTTTAAAACTATATAGTTTAAACTATATAGTTTAAAAC TATATAAACTATATAGTTTTAAACTATATAAACTATAGTTTTAAACTATA TAAACTATATAGTTTTAAACTATATAAACTATATAGTTTTAAACTATATA AACTATAGTTTTAAACTATATAAACTATATAGTTTTAAACTATATAAACT ATATAGTTTTAAACTATATAAACTATATAGTTTTAAACTATATAAACTAG TTTAAAACTATATATAAACTATATAGTTTAAAACTATAAACTATATAGTT TAAAACTATATATAAACTATATAGTTTAAAACTATAAACTATATAGTTTA AAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(622): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGG GGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCC CGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCA GTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGT CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAG CCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGAGGGGTCAG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	155	0.0065	629	c.155 others(648): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCTCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCC GGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTG GACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCC CCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCT CCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(622): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCC CGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCA GTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGT CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAG CCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG03688.hp1 NA18983.hp1 HG03688.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0010 a0001c0001t0002 a0001c0003t0010	a0001c0001t0002g0055 a0001c0003t0010g0089 a0001c0001t0002g0055 a0001c0003t0010g0089	2	155	0.0129	629	c.155 others(648): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCC GGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTG GACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCC CCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCT CCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar

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Search Results (Total: 10000 hits)