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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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
SGSM2_chr17_2332501_2386054	2354939	T T	TGGGGAAG others(784): Show TGGGGAAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTT GGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTG GGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGG GGCAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGG AAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGCG GAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGG CAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGG AAGGGACCCCGTATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGG AAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGC AGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGCGTTGGGGGA AGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGCGTTGGGGGA AGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGCGTTGGGGAA GGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGCGTTGGGGAAG GGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGGAAG GGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGAAGG GACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0166 a0002c0002t0004g0166	1	422	0.0024	791	c.134 others(808): Show c.134-6689_134-6688insGCCCCATATCTTAGAATGGTGGAATCGG GGTGTAAGGGTTGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGG GTGTAAGGGTTGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGG TGTAAGGGTTGGGGCAGGGACCCCATATCTTAGAATGGTGGAATCGGGGT GTAAGGGTTGGGAAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTG TAAGGGTTGGCGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTG TAAGGGTTGGGGCAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGT AAGGGTTGGGGGAAGGGACCCCGTATCTTAGAATGGTGGAATCGGGGTGT AAGGGTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGT AAGGGTTGGGGCAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTA AGCGTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTA AGCGTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTA AGCGTTGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAA GCGTTGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAG GGTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAG GGTTGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGG GTTGGGGGAAGGG	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2354949	A A	GCCCCATA others(784): Show GCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGAAAGGGA CCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGAAGGGAC CCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGAAGGGACC CCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGCAGGGACCC CATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGAAAGGGACCCC ATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGGAAGGGACCCC ATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGCAGGGGCCCCA TATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGGAAGGGACCCCA TATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGGAAGGGACCCCA TATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGCAGGGGCCCCAT ATCTTAGAATGGTGGAATCGGGGTGTAAGCGTTGGGGGAAGGGACCCCAT ATCTTAGAATGGTGGAATCGGGGTGTAAGCGTTGGGGGAAGGGACCCCAT ATCTTAGAATGGTGGAATCGGGGTGTAAGCGTTGGGGAAGGGACCCCATA TCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGGAAGGGACCCCATA TCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGAAGGGACCCCATAT CTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGGAAGGGA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0140 a0007c0007t0001g0140	1	422	0.0024	791	c.134 others(808): Show c.134-6689_134-6688insGCCCCATATCTTAGAATGGTGGAATCGG GGTGTAAGGGTTGGGAAAGGGACCCCATATCTTAGAATGGTGGAATCGGG GTGTAAGGGTTGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGG TGTAAGGGTTGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGT GTAAGGGTTGGGGCAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTG TAAGGGTTGGGAAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGT AAGGGTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGT AAGGGTTGGGGCAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTA AGGGTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTA AGGGTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTA AGGGTTGGGGCAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAA GCGTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAA GCGTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAA GCGTTGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAG GGTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAG GGTTGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGG GTTGGGGGAAGGG	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23			chr17	TogoVar
SMOC2_chr6_168436184_168672992	168659504	G G	GAGGGTGG others(784): Show GAGGGTGGAGGTTGTAGTATGGGTGAGGGTGGAGGTTGTAGTATGGGTGA GGGTAGAGGTTGTAGGTTGGGTGAGGGTGGAGGTTGTAGGTTGGGTGAAG GTGAAGGTTGTTTCCTGGTTGAGGGTGGAGGTTATAATATGGGTGAGGGT GGAGGTTGTATTGTGAGTGAGGGTGGAGGTTGTAGGCTGGGTAAGGGTAG AGGTTGTAGCTTGGATGAGGGTGGCAGTTGTAGGTTGGGTGATGGTGGAG GCTATAGTATGGGTGAGGGTAGAGGTTTTAGGTTGGTGAGGGTAGAGGTT GTAGGTTGGGTGAGGGTGGAGGTTGTTGGCTGGTTGATGGTGGAGGTTAT AGTATGGGTGAGGGTGGAGGTTTTTTGGTGATTGAGGGTGGAGGTTGTAG GCTGGGTAAGGGTAGATAGAGATTGTAGCTTGGATGAGGGTGGCGGTTGT AGGCTGGGTGAGGGTGGTGGTTGTAGGTTGGGTGATGGTGGAGGTTATAG TATGGGTGAGGGTAGAGGTTTTAGGTTGGTGAGGGTAGAGGTTGTAGGTT GGGTGAGGGTGGAGGTTGTTGGCTGGTTGATGGTGGAGGTTATAGTATGG GTGAGGGTGGAGGTTTGGTGATTGAGGGTGGAGGTTGTAGGCTAGGTGAG GGTAGAGGTTGTAGGTTGAGTGAGGGTGGAGGTTGTAGGTTGGGTGAGGT TGTAGATTAGAGGCTGGGTGAGGGTGTTGGTTGTTGTCTGGGTGAGAGTG GGGGTTGTAGGCTGGGTGAGGGTGGAGGTTGTAGGTTGGATA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp2 HG02083.hp1 others(9): Show HG00597.hp1 HG00609.hp2 HG02083.hp1 HG02738.hp1 HG04184.hp1 NA18612.hp2 NA18943.hp1 NA18945.hp1 NA18951.hp2 NA18963.hp1 NA18973.hp1 NA19000.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0006 a0001c0001 a0001c0002 a0003c0006	a0001c0001t0001 a0001c0002t0002 a0003c0006t0012 a0001c0001t0001 a0001c0002t0002 a0003c0006t0012	a0001c0001t0001g0093 a0001c0001t0001g0099 a0001c0001t0001g0110 others(9): Show a0001c0001t0001g0093 a0001c0001t0001g0099 a0001c0001t0001g0110 a0001c0001t0001g0140 a0001c0001t0001g0158 a0001c0002t0002g0011 a0001c0002t0002g0013 a0001c0002t0002g0021 a0001c0002t0002g0055 a0001c0002t0002g0059 a0001c0002t0002g0060 a0003c0006t0012g0018	12	180	0.0667	791	c.128 others(810): Show c.1286-4554_1286-4553insTATGGGTGAGGGTGGAGGTTGTAGTA TGGGTGAGGGTAGAGGTTGTAGGTTGGGTGAGGGTGGAGGTTGTAGGTTG GGTGAAGGTGAAGGTTGTTTCCTGGTTGAGGGTGGAGGTTATAATATGGG TGAGGGTGGAGGTTGTATTGTGAGTGAGGGTGGAGGTTGTAGGCTGGGTA AGGGTAGAGGTTGTAGCTTGGATGAGGGTGGCAGTTGTAGGTTGGGTGAT GGTGGAGGCTATAGTATGGGTGAGGGTAGAGGTTTTAGGTTGGTGAGGGT AGAGGTTGTAGGTTGGGTGAGGGTGGAGGTTGTTGGCTGGTTGATGGTGG AGGTTATAGTATGGGTGAGGGTGGAGGTTTTTTGGTGATTGAGGGTGGAG GTTGTAGGCTGGGTAAGGGTAGATAGAGATTGTAGCTTGGATGAGGGTGG CGGTTGTAGGCTGGGTGAGGGTGGTGGTTGTAGGTTGGGTGATGGTGGAG GTTATAGTATGGGTGAGGGTAGAGGTTTTAGGTTGGTGAGGGTAGAGGTT GTAGGTTGGGTGAGGGTGGAGGTTGTTGGCTGGTTGATGGTGGAGGTTAT AGTATGGGTGAGGGTGGAGGTTTGGTGATTGAGGGTGGAGGTTGTAGGCT AGGTGAGGGTAGAGGTTGTAGGTTGAGTGAGGGTGGAGGTTGTAGGTTGG GTGAGGTTGTAGATTAGAGGCTGGGTGAGGGTGTTGGTTGTTGTCTGGGT GAGAGTGGGGGTTGTAGGCTGGGTGAGGGTGGAGGTTGTAGGTTGGATAA GGGTGGAGGTTGTAG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168659504	G G	GAGGGTGG others(784): Show GAGGGTGGAGGTTGTAGTATGGGTGAGGGTGGAGGTTGTAGTATGGGTGA GGGTAGAGGTTGTAGGTTGGGTGAGGGTGGAGGTTGTAGGTTGGGTGAAG GTGAAGGTTGTTTGCTGGTTGAGGGTGGAGGTTATAATATGGGTGAGGGT GGAGGTTGTATTGTGAGTGAGGGTGGAGGTTGTAGGCTGGATAAGGGTAG AGGTTGTAGCTTGGATGAGGGTGGCAGTTGTAGGTTGGGTGATGGTGGAG GCTATAGTATGGGTGAGGGTAGAGGTTTTAGGTTGGTGAGGGTAGAGGTT GTAGGTTGGGTGAGGGTGGAGGTTGTTGGCTGGTTGATGGTGGAGGTTAT AGTATGGGTGAGGGTGGAGGTTTTTTGGTGATTGAGGGTGGAGGTTGTAG GCTGGGTAAGGGTAGATAGAGATTGTAGCTTGGATGAGGGTGGCGGTTGT AGGCTGGGTGAGGGTGGTGGTTGTAGGTTGGGTGATGGTGGAGGTTATAG TATGGGTGAGGGTAGAGGTTTTAGGTTGGTGAGGGTAGAGGTTGTAGGTT GGGTGAGGGTGGAGGTTGTTGGCTGGTTGATGGTGGAGGTTATAGTATGG GTGAGGGTGGAGGTTTGGTGATTGAGGGTGGAGGTTGTAGGCTAGGTGAG GGTAGAGGTTGTAGGTTGAGTGAGGGTGGAGGTTGTAGGTTGGGTGAGGT TGTAGATTAGAGGCTGGGTGAGGGTGTTGGTTGTTGTCTGGGTGAGAGTG GGGGTTGTAGGCTGGGTGAGGGTGGAGGTTGTAGGTTGGATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01261.hp2 HG01346.hp1 others(8): Show HG00738.hp1 HG01261.hp2 HG01346.hp1 HG01952.hp2 HG02135.hp1 HG02293.hp2 HG04204.hp2 NA18951.hp1 NA18983.hp1 NA19065.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0011 a0001c0002t0002 a0001c0001t0001 a0001c0001t0011 a0001c0002t0002	a0001c0001t0001g0092 a0001c0001t0001g0133 a0001c0001t0001g0134 others(8): Show a0001c0001t0001g0092 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0011g0119 a0001c0002t0002g0006 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0031	11	180	0.0611	791	c.128 others(810): Show c.1286-4554_1286-4553insTATGGGTGAGGGTGGAGGTTGTAGTA TGGGTGAGGGTAGAGGTTGTAGGTTGGGTGAGGGTGGAGGTTGTAGGTTG GGTGAAGGTGAAGGTTGTTTGCTGGTTGAGGGTGGAGGTTATAATATGGG TGAGGGTGGAGGTTGTATTGTGAGTGAGGGTGGAGGTTGTAGGCTGGATA AGGGTAGAGGTTGTAGCTTGGATGAGGGTGGCAGTTGTAGGTTGGGTGAT GGTGGAGGCTATAGTATGGGTGAGGGTAGAGGTTTTAGGTTGGTGAGGGT AGAGGTTGTAGGTTGGGTGAGGGTGGAGGTTGTTGGCTGGTTGATGGTGG AGGTTATAGTATGGGTGAGGGTGGAGGTTTTTTGGTGATTGAGGGTGGAG GTTGTAGGCTGGGTAAGGGTAGATAGAGATTGTAGCTTGGATGAGGGTGG CGGTTGTAGGCTGGGTGAGGGTGGTGGTTGTAGGTTGGGTGATGGTGGAG GTTATAGTATGGGTGAGGGTAGAGGTTTTAGGTTGGTGAGGGTAGAGGTT GTAGGTTGGGTGAGGGTGGAGGTTGTTGGCTGGTTGATGGTGGAGGTTAT AGTATGGGTGAGGGTGGAGGTTTGGTGATTGAGGGTGGAGGTTGTAGGCT AGGTGAGGGTAGAGGTTGTAGGTTGAGTGAGGGTGGAGGTTGTAGGTTGG GTGAGGTTGTAGATTAGAGGCTGGGTGAGGGTGTTGGTTGTTGTCTGGGT GAGAGTGGGGGTTGTAGGCTGGGTGAGGGTGGAGGTTGTAGGTTGGATAA GGGTGGAGGTTGTAG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168659504	G G	GAGGGTGG others(784): Show GAGGGTGGAGGTTGTAGTATGGGTGAGGGTGGAGGTTGTAGTATGGGTGA GGGTAGAGGTTGTAGGTTGGGTGAGGGTGGAGGTTGTAGGTTGGGTGAAG GTGAAGGTTGTTTGCTGGTTGAGGGTGGAGGTTATAATATGGGTGAGGGT GGAGGTTGTATTGTGAGTGAGGGTGGAGGTTGTAGGCTGGGTAAGGGTAG AGGTTGTAGCTTGGATGAGGGTGGCAGTTGTAGGTTGGGTGATGGTGGAG GCTATAGTATGGGTGAGGGTAGAGGTTTTAGGTTGGTGAGGGTAGAGGTT GTAGGTTGGGTGAGGGTGGAGGTTGTTGGCTGGTTGATGGTGGAGGTTAT AGTATGGGTGAGGGTGGAGGTTTTTTGGTGATTGAGGGTGGAGGTTGTAG GCTGGGTAAGGGTAGATAGAGATTGTAGCTTGGATGAGGGTGGCGGTTGT AGGCTGGGTGAGGGTGGTGGTTGTAGGTTGGGTGATGGTGGAGGTTATAG TATGGGTGAGGGTAGAGGTTTTAGGTTGGTGAGGGTAGAGGTTGTAGGTT GGGTGAGGGTGGAGGTTGTTGGCTGGTTGATGGTGGAGGTTATAGTATGG GTGAGGGTGGAGGTTTGGTGATTGAGGGTGGAGGTTGTAGGCTAGGTGAG GGTAGAGGTTGTAGGTTGAGTGAGGGTGGAGGTTGTAGGTTGGGTGAGGT TGTAGATTAGAGGCTGGGTGAGGGTGTTGGTTGTTGTCTGGGTGAGAGTG GGGGTTGTAGGCTGGGTGAGGGTGGAGGTTGTAGGTTGGATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00741.hp1 HG01069.hp1 others(18): Show HG00280.hp1 HG00741.hp1 HG01069.hp1 HG01256.hp2 HG01361.hp1 HG01361.hp2 HG01978.hp1 HG02735.hp1 HG02735.hp2 HG02970.hp2 HG02976.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03490.hp2 HG03492.hp2 HG04199.hp1 HG04228.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0007 others(2): Show a0001c0001 a0001c0002 a0001c0007 a0001c0011 a0004c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0002t0002 a0001c0002t0007 a0001c0002t0016 a0001c0007t0005 a0001c0011t0006 a0004c0009t0003	a0001c0001t0001g0131 a0001c0001t0003g0086 a0001c0001t0003g0087 others(18): Show a0001c0001t0001g0131 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0090 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0109 a0001c0001t0003g0116 a0001c0001t0003g0120 a0001c0001t0003g0135 a0001c0001t0003g0149 a0001c0001t0003g0169 a0001c0001t0003g0171 a0001c0001t0009g0161 a0001c0002t0002g0004 a0001c0002t0002g0034 a0001c0002t0007g0016 a0001c0002t0016g0046 a0001c0007t0005g0050 a0001c0011t0006g0167 a0004c0009t0003g0088	21	180	0.1167	791	c.128 others(810): Show c.1286-4554_1286-4553insTATGGGTGAGGGTGGAGGTTGTAGTA TGGGTGAGGGTAGAGGTTGTAGGTTGGGTGAGGGTGGAGGTTGTAGGTTG GGTGAAGGTGAAGGTTGTTTGCTGGTTGAGGGTGGAGGTTATAATATGGG TGAGGGTGGAGGTTGTATTGTGAGTGAGGGTGGAGGTTGTAGGCTGGGTA AGGGTAGAGGTTGTAGCTTGGATGAGGGTGGCAGTTGTAGGTTGGGTGAT GGTGGAGGCTATAGTATGGGTGAGGGTAGAGGTTTTAGGTTGGTGAGGGT AGAGGTTGTAGGTTGGGTGAGGGTGGAGGTTGTTGGCTGGTTGATGGTGG AGGTTATAGTATGGGTGAGGGTGGAGGTTTTTTGGTGATTGAGGGTGGAG GTTGTAGGCTGGGTAAGGGTAGATAGAGATTGTAGCTTGGATGAGGGTGG CGGTTGTAGGCTGGGTGAGGGTGGTGGTTGTAGGTTGGGTGATGGTGGAG GTTATAGTATGGGTGAGGGTAGAGGTTTTAGGTTGGTGAGGGTAGAGGTT GTAGGTTGGGTGAGGGTGGAGGTTGTTGGCTGGTTGATGGTGGAGGTTAT AGTATGGGTGAGGGTGGAGGTTTGGTGATTGAGGGTGGAGGTTGTAGGCT AGGTGAGGGTAGAGGTTGTAGGTTGAGTGAGGGTGGAGGTTGTAGGTTGG GTGAGGTTGTAGATTAGAGGCTGGGTGAGGGTGTTGGTTGTTGTCTGGGT GAGAGTGGGGGTTGTAGGCTGGGTGAGGGTGGAGGTTGTAGGTTGGATAA GGGTGGAGGTTGTAG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168659504	G G	GAGGGTGG others(784): Show GAGGGTGGAGGTTGTAGTATGGGTGAGGGTGGAGGTTGTAGTATGGGTGA GGGTAGAGGTTGTAGGTTGGGTGAGGGTGGAGGTTGTAGGTTGGGTGAAG GTGAAGGTTGTTTGCTGGTTGAGGGTGGAGGTTATAATATGGGTGAGGGT GGAGGTTGTATTGTGAGTGAGGGTGGAGGTTGTAGGCTGGGTAAGGGTAG AGGTTGTAGCTTGGATGAGGGTGGCAGTTGTAGGTTGGGTGATGGTGGAG GCTATAGTATGGGTGAGGGTAGAGGTTTTAGGTTGGTGAGGGTAGAGGTT GTAGGTTGGGTGAGGGTGGAGGTTGTTGGCTGGTTGATGGTGGAGGTTAT AGTATGGGTGAGGGTGGAGGTTTTTTGGTGATTGATGGTGGAGGTTGTAG GCTGGGTAAGGGTAGATAGAGATTGTAGCTTGGATGAGGGTGGCGGTTGT AGGCTGGGTGAGGGTGGTGGTTGTAGGTTGGGTGATGGTGGAGGTTATAG TATGGGTGAGGGTAGAGGTTTTAGGTTGGTGAGGGTAGAGGTTGTAGGTT GGGTGAGGGTGGAGGTTGTTGGCTGGTTGATGGTGGAGGTTATAGTATGG GTGAGGGTGGAGGTTTGGTGATTGAGGGTGGAGGTTGTAGGCTAGGTGAG GGTAGAGGTTGTAGGTTGAGTGAGGGTGGAGGTTGTAGGTTGGGTGAGGT TGTAGATTAGAGGCTGGGTGAGGGTGTTGGTTGTTGTCTGGGTGAGAGTG GGGGTTGTAGGCTGGGTGAGGGTGGAGGTTGTAGGTTGGATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp1 HG01891.hp1 others(25): Show HG01243.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG02109.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02630.hp1 HG02630.hp2 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03130.hp1 HG03195.hp2 HG03225.hp2 HG03579.hp2 HG03654.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA19030.hp1 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0005c0010	a0001c0001t0001 a0001c0002t0002 a0001c0002t0007 others(2): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0007 a0001c0005t0001 a0005c0010t0001	a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0125 others(25): Show a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0001g0141 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0002t0002g0001 a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0022 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0052 a0001c0002t0002g0054 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0180 a0001c0002t0007g0053 a0001c0005t0001g0126 a0001c0005t0001g0162 a0005c0010t0001g0130	28	180	0.1556	791	c.128 others(810): Show c.1286-4554_1286-4553insTATGGGTGAGGGTGGAGGTTGTAGTA TGGGTGAGGGTAGAGGTTGTAGGTTGGGTGAGGGTGGAGGTTGTAGGTTG GGTGAAGGTGAAGGTTGTTTGCTGGTTGAGGGTGGAGGTTATAATATGGG TGAGGGTGGAGGTTGTATTGTGAGTGAGGGTGGAGGTTGTAGGCTGGGTA AGGGTAGAGGTTGTAGCTTGGATGAGGGTGGCAGTTGTAGGTTGGGTGAT GGTGGAGGCTATAGTATGGGTGAGGGTAGAGGTTTTAGGTTGGTGAGGGT AGAGGTTGTAGGTTGGGTGAGGGTGGAGGTTGTTGGCTGGTTGATGGTGG AGGTTATAGTATGGGTGAGGGTGGAGGTTTTTTGGTGATTGATGGTGGAG GTTGTAGGCTGGGTAAGGGTAGATAGAGATTGTAGCTTGGATGAGGGTGG CGGTTGTAGGCTGGGTGAGGGTGGTGGTTGTAGGTTGGGTGATGGTGGAG GTTATAGTATGGGTGAGGGTAGAGGTTTTAGGTTGGTGAGGGTAGAGGTT GTAGGTTGGGTGAGGGTGGAGGTTGTTGGCTGGTTGATGGTGGAGGTTAT AGTATGGGTGAGGGTGGAGGTTTGGTGATTGAGGGTGGAGGTTGTAGGCT AGGTGAGGGTAGAGGTTGTAGGTTGAGTGAGGGTGGAGGTTGTAGGTTGG GTGAGGTTGTAGATTAGAGGCTGGGTGAGGGTGTTGGTTGTTGTCTGGGT GAGAGTGGGGGTTGTAGGCTGGGTGAGGGTGGAGGTTGTAGGTTGGATAA GGGTGGAGGTTGTAG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNTG2_chr2_945849_1372613	1111962	C C	CAGTCCTT others(784): Show CAGTCCTTTGAGAAGAATCGTGTGTACTAAGTGAGGTTTAACCCTTATAC TCCTTTGAGGAGGATCGTGTGTACTGAGGTTTAACCCTTAGAGTCCTTTG AGGAGGATCGTGTGTACTGAGGTTTAACCCTTACAGTCCTTTGAGAAGAA TCGTGTGTACTAAGTGAGGTTTAACCCTTATACTCCTTTGAGGAGGATCG TGTGTACTAAGTGAGGTTTAACCCTTAGAGTCCTTTGAGGAGGATCGTGT GTACTAAGTGAGGTTTAACCCTTACAGTCCTTTGAGAAGAATCGTGTGTA CTAAGTGAGGTTTAACCCTTATACTCCTTTGAGGAGGATCGTGTGTACTA AGTGAGGTTTAACCCTTAGAGTCCTTTGAGGAGGATCGTGTGTACTAAGT GAGGTTTAACCCTTACAGTCCTTTGAGAAGAATCGTGTGTACTAAGTGAG GTTTAACCCTTATACTCCTTTGAGGAGGATCGTGTGTACTAAGTGAGGTT TAACCCTTAGAGTCCTTTGAGGAGGATCGTGTGTACTAAGTGAGGTTTAA CCCTTACAGTCCTTTGAGAAGAATCGTGTGTACTAAGTGAGGTTTAACCC TTATACTCCTTTGAGGAGGATCGTGTGTACTAAGTGAGGTTTAACCCTTA GAGTCCTTTGAGGAGGATCGTGTGTACTAAGTGAGGTTTAACCCTTACAG TCCTTTGAGAAGAATCGTGTGTACTAAGTGAGGTTTAACCCTTATACTCC TTTGAGGAGGATCGTGTGTACTAAGTGAGGTTTAACCCTTAG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0050 a0006c0009t0001g0050	1	190	0.0053	791	c.325 others(810): Show c.325+13563_325+13564insAAGAATCGTGTGTACTAAGTGAGGTT TAACCCTTATACTCCTTTGAGGAGGATCGTGTGTACTGAGGTTTAACCCT TAGAGTCCTTTGAGGAGGATCGTGTGTACTGAGGTTTAACCCTTACAGTC CTTTGAGAAGAATCGTGTGTACTAAGTGAGGTTTAACCCTTATACTCCTT TGAGGAGGATCGTGTGTACTAAGTGAGGTTTAACCCTTAGAGTCCTTTGA GGAGGATCGTGTGTACTAAGTGAGGTTTAACCCTTACAGTCCTTTGAGAA GAATCGTGTGTACTAAGTGAGGTTTAACCCTTATACTCCTTTGAGGAGGA TCGTGTGTACTAAGTGAGGTTTAACCCTTAGAGTCCTTTGAGGAGGATCG TGTGTACTAAGTGAGGTTTAACCCTTACAGTCCTTTGAGAAGAATCGTGT GTACTAAGTGAGGTTTAACCCTTATACTCCTTTGAGGAGGATCGTGTGTA CTAAGTGAGGTTTAACCCTTAGAGTCCTTTGAGGAGGATCGTGTGTACTA AGTGAGGTTTAACCCTTACAGTCCTTTGAGAAGAATCGTGTGTACTAAGT GAGGTTTAACCCTTATACTCCTTTGAGGAGGATCGTGTGTACTAAGTGAG GTTTAACCCTTAGAGTCCTTTGAGGAGGATCGTGTGTACTAAGTGAGGTT TAACCCTTACAGTCCTTTGAGAAGAATCGTGTGTACTAAGTGAGGTTTAA CCCTTATACTCCTTTGAGGAGGATCGTGTGTACTAAGTGAGGTTTAACCC TTAGAGTCCTTTGAG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(784): Show TGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGG GGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGG GGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGA GTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCC CAGCGGGGGTGGAGTTGCCTGTGGGGGGGCCCAGCGGGGGTGGAGTTGCC TGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGG GGGTGGGGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGG GGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGTGCCCAGCGG GGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGG GGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGATGG GGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCC CAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCT GTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGG GGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGG GGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGT GGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0134 a0001c0001t0005g0134	1	422	0.0024	791	c.64 others(802): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCC CCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCAC CCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCC AGGCAACCCCATCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCT GGGCCTCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCACCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CTCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAA CCCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCC CCACCACAGGCAACTCCACCCCCGCTGGGCCCCCCCACAGGCAACTCCAC CCCCGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCC CAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGC TGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTGGGC CCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
ST3GAL3_chr1_43702536_43936159	43905595	C C	CGCCACTG others(784): Show CGCCACTGTTTCTCCCCCTCCTTCTGCTTCTCTTCCCGCCACTGTTTCTC CCCCTCCTCCTGCTTCTCTTCCCGCCACTGTTTCTCCCCCTCCTCCTGTT CCCCTTCCCACCACTCTTCCTCCCCCTCCTCCTGTTCCCCTTCCTGCCAC TCTCCCTTCCCCTCCTCCTGCTCCTCTTTCTGCCACTCTTCCTCCCCTTC CTGCTCCTCTTCCCACCACTCTTCCCCCTCCTCCTGCTCCTCTTCCCACC ACTCTTCCTCCTCCTCCCCCTGCTCCTCTTCCCACCACTCTTCCTCCTCC TCCCCCTGCTCCTCTTCCCACCACTCTTCCTACCCTTCATCCTCTTCCTG CCACTCTTCCTCCTCCTCCTCCTGCTCCTCTTCCCACCACTCTTCTCCTC CCCCTCCTCCTGTTTCTCTTCCTGCCACTCTTCCTCCCCCTCCTTCTGTT CCTCTTCCCGCCACTCTTCCTCCCCCTCCTCCTCCTGTTCCTCTTCCTGC CACTCTTCCTCTCCTGCCTCCTTCTGCTCCTCTTCCTGCCACTTTTCCTC CCCCTCCTCCTGTTCCCCTTCCCACCACTCTTCCCCCTCCTCCTTCTGTT CCTCTTCCCACCACTCTTCCTCCCCCTCCCCCTTCTGCTCCTCTTCCTGC CACTTTTCCTCCCCCTCGTCCTGCTCCTCTTCCCACCACTGTTCCTCCCC CTCCTCCTGTTCCCCTTCCCACCACTCTTCCTCTCCGTCCTCCTGTTCCC CTTCCTGTCACTTTTCCTCCCCCTCCTTCTGCTCCTATTCCT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	274	0.0037	791	c.744 others(808): Show c.744+5889_744+5890insTCTGCTTCTCTTCCCGCCACTGTTTCTC CCCCTCCTCCTGCTTCTCTTCCCGCCACTGTTTCTCCCCCTCCTCCTGTT CCCCTTCCCACCACTCTTCCTCCCCCTCCTCCTGTTCCCCTTCCTGCCAC TCTCCCTTCCCCTCCTCCTGCTCCTCTTTCTGCCACTCTTCCTCCCCTTC CTGCTCCTCTTCCCACCACTCTTCCCCCTCCTCCTGCTCCTCTTCCCACC ACTCTTCCTCCTCCTCCCCCTGCTCCTCTTCCCACCACTCTTCCTCCTCC TCCCCCTGCTCCTCTTCCCACCACTCTTCCTACCCTTCATCCTCTTCCTG CCACTCTTCCTCCTCCTCCTCCTGCTCCTCTTCCCACCACTCTTCTCCTC CCCCTCCTCCTGTTTCTCTTCCTGCCACTCTTCCTCCCCCTCCTTCTGTT CCTCTTCCCGCCACTCTTCCTCCCCCTCCTCCTCCTGTTCCTCTTCCTGC CACTCTTCCTCTCCTGCCTCCTTCTGCTCCTCTTCCTGCCACTTTTCCTC CCCCTCCTCCTGTTCCCCTTCCCACCACTCTTCCCCCTCCTCCTTCTGTT CCTCTTCCCACCACTCTTCCTCCCCCTCCCCCTTCTGCTCCTCTTCCTGC CACTTTTCCTCCCCCTCGTCCTGCTCCTCTTCCCACCACTGTTCCTCCCC CTCCTCCTGTTCCCCTTCCCACCACTCTTCCTCTCCGTCCTCCTGTTCCC CTTCCTGTCACTTTTCCTCCCCCTCCTTCTGCTCCTATTCCTGCCACTGT TTCTCCCCCTCCT	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
TERT_chr5_1248167_1300068	1273332	A A	ACATCAGA others(784): Show ACATCAGACCCCACGACCGCCATCCACAGTCACATCAGACCCTACGACCG CCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCAC CACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCA CGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCACCATCCAC AGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAG ACCCCACGACCACCATCCACAGTCACATCAGACCCCACGACCGCCATCCA CAGTCACCACATCAGACCCCATGACCGCCATCCACAGTCACCACACATCA GACCCCACAACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCA TCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACATCAG ACCCTACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCC ATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACA CATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGAC CGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCAC CACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCA CGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCAC AGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18999.hp1 NA19054.hp1 NA18955.hp1 NA18999.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0240 a0001c0001t0001g0245 a0001c0001t0001g0246	3	392	0.0077	791	c.228 others(810): Show c.2287-1053_2287-1052insGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGT CGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTG GTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCG GTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGA TGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGG ATGGCGGTCGTAGGGTCTGATGTGACTGTGGATGGCGGTCGTGGGGTCTG ATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGA TGGCGGTTGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCATGGGG TCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGACTGTGG ATGGTGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGTGGTGACTGTGGATGGTGGTCGTGGGGTCTGATGTGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGT CGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTG TGGTGACTGTGGATGGCGGTCGTAGGGTCTGATGTGACTGTGGATGGCGG TCGTGGGGTCTGATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TTLL8_chr22_50013575_50063298	50028618	G G	GAAGACCC others(784): Show GAAGACCCCCACACACACTCGTAGAGACCCCCATCACACCGTCCTGAAGA CCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCCAC ATACCCTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACCCT CGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACACTCGTAAAG ACCCCCATCACACCGTCCTGAAGACCCCCACACACCCTCGTAAAGACCCC CATCACACCGTCCTGAAGACCCACACATACCCTCGTAAAGACCCCATCAC ACCGTCCTGAAGACCCACACATACCCTCGTAAAGACCCCATCACACCATC CTAAAGACCCACACATACCCTCGTAAAGACCCCCATCACACCATCCTAAA GACCCCCACACACACTCGTAGAGACCCCCATCACACCGTCCTGAAGACCC CACACACACTCGTAAAGACCCCCGTCATACCATCCTGAAGACCCCACACA CCCTCGTAAAGACCCCCATCATACCATCCTAAAGACCCCCACACACACTC GTAAAGACCCCATCACACCGTCCTAAAGACCCCCACACACCCTCGTGAAG ACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCAT CACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCG TCCTAAAGACCCACACACACACTCGTAAAGACCCCATCACACCATCCTGA AGACCCCACATACCCTCGTAAAGACCCCATCACACCATCCTA	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	224	0.0045	791	c.225 others(810): Show c.2251+1811_2251+1812insTAGGATGGTGTGATGGGGTCTTTACG AGGGTATGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGTGTGT GTGTGGGTCTTTAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGG TCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAG GACGGTGTGATGGGGTCTTCACGAGGGTGTGTGGGGGTCTTTAGGACGGT GTGATGGGGTCTTTACGAGTGTGTGTGGGGGTCTTTAGGATGGTATGATG GGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTATGACGGGGGTC TTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGGTCTCTACG AGTGTGTGTGGGGGTCTTTAGGATGGTGTGATGGGGGTCTTTACGAGGGT ATGTGTGGGTCTTTAGGATGGTGTGATGGGGTCTTTACGAGGGTATGTGT GGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTATGTGTGGGTCT TCAGGACGGTGTGATGGGGGTCTTTACGAGGGTGTGTGGGGGTCTTCAGG ACGGTGTGATGGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGATGGTG TGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGGG GTCTTTACGAGGGTATGTGGGGGTCTTCAGGACGGTGTGATGGGGTCTTT ACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGGTCTCTACGAGT GTGTGTGGGGGTCTT	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TWIST2_chr2_238843085_238915534	238870237	C C	CACCCTAC others(784): Show CACCCTACACACCCCACACACACCACACACCACACACACCCCACACACAC CACACCCCACACACACCACACACCCCCCACACACACCACACCCCATACAC ACCACACCCCACACACACCACACCCCATACACACCACACACCCCACACAC ACCACACACCCCACACACACCACACCCCATACACACCACACACACCACAC ACACCACACCCCACACACACCACACACACACCACACCCCACACACACCAC ACACCCCCCACACACACCACACCCCATACACACCACACCCCACACACACC ACACCCCACACACACCACACACCCCACACACACCACACACCCCACACACA CCACACCCCACACACACCACACCCCATACACACCACACCCCACACACACC ACACCCCATACACACCACACCCCATACACACCACACCCCACACACACCAC ACACCCCACACACACCACACACCCCACACACACCACACCCCACACACACC ACACAAACCACACACCCTACACACCCCACACACACCACACACCACACACA CCCCACACACACCACACCCCACACACACCACACACCCCCCACACACACCA CACCCCATACACACCACACCCCACACACACCACACCCCATACACACCACA CACCCCACACACACCACACACCCCACACACACCACACCCCATACACACCA CACCCCCCACACACCACACACCCCACACACACCACACCCCATACACACCA CACCCCACACACACCACACACCCCACACACACCACACCCCAT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG03688.hp2 HG02071.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0136 a0001c0001t0003g0271 a0001c0001t0001g0136 a0001c0001t0003g0271	2	338	0.0059	791	c.35 others(810): Show c.35+21506_*35+21507insCCTACACACCCCACACACACCACACA CCACACACACCCCACACACACCACACCCCACACACACCACACACCCCCCA CACACACCACACCCCATACACACCACACCCCACACACACCACACCCCATA CACACCACACACCCCACACACACCACACACCCCACACACACCACACCCCA TACACACCACACACACCACACACACCACACCCCACACACACCACACACAC ACCACACCCCACACACACCACACACCCCCCACACACACCACACCCCATAC ACACCACACCCCACACACACCACACCCCACACACACCACACACCCCACAC ACACCACACACCCCACACACACCACACCCCACACACACCACACCCCATAC ACACCACACCCCACACACACCACACCCCATACACACCACACCCCATACAC ACCACACCCCACACACACCACACACCCCACACACACCACACACCCCACAC ACACCACACCCCACACACACCACACAAACCACACACCCTACACACCCCAC ACACACCACACACCACACACACCCCACACACACCACACCCCACACACACC ACACACCCCCCACACACACCACACCCCATACACACCACACCCCACACACA CCACACCCCATACACACCACACACCCCACACACACCACACACCCCACACA CACCACACCCCATACACACCACACCCCCCACACACCACACACCCCACACA CACCACACCCCATACACACCACACCCCACACACACCACACACCCCACACA CACCACACCCCATAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UMAD1_chr7_7635752_7884223	7679098	C C	CATATATT others(784): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATAT TTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTAT ATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATAT TTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAATAT ATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAA ATATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTT ATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTT ATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTT ATAAATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTT ATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTTA GTTTATAAATACATATTTATATATTTAGTTTATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAGTT TATAGATAAATATATATTTATATATTTAGTTTATAGATAAAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0094 a0001c0001t0006g0094	1	250	0.0040	791	c.82+ others(806): Show c.82+5669_82+5670insAACATATATTTATATATTTAGTTTATAAAC ATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTAT AAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGT TTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATT TAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATA TATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAATATATATT TATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATA TATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAA TATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAA TATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAA TATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAA TACATATTTACATATTTAGTTTATAAATACATATTTATATATTTAGTTTA TAAATACATATTTATATATTTAGTTTATAAATATATATTTATATATTTAA TTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATAT TTATATATTTAATTTATAGATAAATATATATTTATATATTTAGTTTATAG ATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATA TTTAGTTTATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
VPS53_chr17_503668_719839	594611	G G	GGAGGAAG others(784): Show GGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTTCCTGATTTGAT GATGCACTCTAGTGTCCCCCTGGAGGAAGCTGGGAGATGGGAAGGGGTCT GGATCAATTTCCTGGTGTGATGATGCACTCTAGTGTCCCCCCTGGAGGAA GCTGGGAGATGGGAAGGGGTCTGGATCAATTTCCTGGTTTGATGATGCAC TCTAGTGCCCTGCCCTCGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATC AATTTCCTGATTTGATGATGCACTCTAGTGTCCCCCTGGAGGAAGCTGGG AGATGGGAAGGGGTCTGGATCAATTTCCTGGTTTGATGATGCACTCTAGT GCCCCGCCCTGGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTTC CTCGTTTGATGATGCACTCTAGTGTCCCCCTGGAGGAAGCTGGGAGATGG GAAGGGGTCTGGACCAATTTCCTCGTTTGATGATGCACTCTAGTGTCCCC CTGGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTTCCTCGTTTG ATGATGCACTCTAGTGCCCTGCCCTGGAGGAAGCTGGGAGATGGGAAGGG GTCTGGATCAATTTCCTGATTTGATGATGCACTCTAGTGTCCCCCTGGAG GAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTTCCTGGTTTGATGATG CACTCTAGTGTCCCCCCTGGAGGAAGCTGGGAGATGGGAAGGGGTCTGGA TCAATTTCCTGGTTTGATGATGCACTCTAGTGCCCTGCCCTC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01106.hp2 HG01109.hp1 others(5): Show HG00741.hp1 HG01106.hp2 HG01109.hp1 HG02886.hp2 HG02895.hp2 HG03225.hp1 HG04204.hp1 NA20129.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0013 a0001c0001 a0007c0013	a0001c0001t0017 a0001c0001t0033 a0001c0001t0034 others(4): Show a0001c0001t0017 a0001c0001t0033 a0001c0001t0034 a0001c0001t0111 a0001c0001t0112 a0001c0001t0141 a0007c0013t0132	a0001c0001t0017g0158 a0001c0001t0033g0205 a0001c0001t0033g0206 others(5): Show a0001c0001t0017g0158 a0001c0001t0033g0205 a0001c0001t0033g0206 a0001c0001t0034g0162 a0001c0001t0111g0164 a0001c0001t0112g0157 a0001c0001t0141g0165 a0007c0013t0132g0163	8	232	0.0345	791	c.121 others(810): Show c.1218+7183_1218+7184insGAGGGCAGGGCACTAGAGTGCATCAT CAAACCAGGAAATTGATCCAGACCCCTTCCCATCTCCCAGCTTCCTCCAG GGGGGACACTAGAGTGCATCATCAAACCAGGAAATTGATCCAGACCCCTT CCCATCTCCCAGCTTCCTCCAGGGGGACACTAGAGTGCATCATCAAATCA GGAAATTGATCCAGACCCCTTCCCATCTCCCAGCTTCCTCCAGGGCAGGG CACTAGAGTGCATCATCAAACGAGGAAATTGATCCAGACCCCTTCCCATC TCCCAGCTTCCTCCAGGGGGACACTAGAGTGCATCATCAAACGAGGAAAT TGGTCCAGACCCCTTCCCATCTCCCAGCTTCCTCCAGGGGGACACTAGAG TGCATCATCAAACGAGGAAATTGATCCAGACCCCTTCCCATCTCCCAGCT TCCTCCAGGGCGGGGCACTAGAGTGCATCATCAAACCAGGAAATTGATCC AGACCCCTTCCCATCTCCCAGCTTCCTCCAGGGGGACACTAGAGTGCATC ATCAAATCAGGAAATTGATCCAGACCCCTTCCCATCTCCCAGCTTCCTCG AGGGCAGGGCACTAGAGTGCATCATCAAACCAGGAAATTGATCCAGACCC CTTCCCATCTCCCAGCTTCCTCCAGGGGGGACACTAGAGTGCATCATCAC ACCAGGAAATTGATCCAGACCCCTTCCCATCTCCCAGCTTCCTCCAGGGG GACACTAGAGTGCATCATCAAATCAGGAAATTGATCCAGACCCCTTCCCA TCTCCCAGCTTCCTC	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	12/21			chr17	TogoVar
VPS53_chr17_503668_719839	594611	G G	GGAGGAAG others(784): Show GGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTTCCTGATTTGAT GATGCACTCTAGTGTCCCCCTGGAGGAAGCTGGGAGATGGGAAGGGGTCT GGATCAATTTCCTGGTGTGATGATGCACTCTAGTGTCCCCCCTGGAGGAA GCTGGGAGATGGGAAGGGGTCTGGATCAATTTCCTGGTTTGATGATGCAC TCTAGTGCCCTGCCCTCGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATC AATTTCCTGATTTGATGATGCACTCTAGTGTCCCCCTGGAGGAAGCTGGG AGATGGGAAGGGGTCTGGATCAATTTCCTGGTTTGATGATGCACTCTAGT GCCCCGCCCTGGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTTC CTCGTTTGATGATGCACTCTAGTGTCCCCCTGGAGGAAGCTGGGAGATGG GAAGGGGTCTGGATCAATTTCCTCGTTTGATGATGCACTCTAGTGTCCCC CTGGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTTCCTCGTTTG ATGATGCACTCTAGTGCCCTGCCCTGGAGGAAGCTGGGAGATGGGAAGGG GTCTGGATCAATTTCCTGATTTGATGATGCACTCTAGTGTCCCCCTGGAG GAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTTCCTGGTTTGATGATG CACTCTAGTGTCCCCCCTGGAGGAAGCTGGGAGATGGGAAGGGGTCTGGA TCAATTTCCTGGTTTGATGATGCACTCTAGTGCCCTGCCCTC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0204 a0001c0001t0032g0204	1	232	0.0043	791	c.121 others(810): Show c.1218+7183_1218+7184insGAGGGCAGGGCACTAGAGTGCATCAT CAAACCAGGAAATTGATCCAGACCCCTTCCCATCTCCCAGCTTCCTCCAG GGGGGACACTAGAGTGCATCATCAAACCAGGAAATTGATCCAGACCCCTT CCCATCTCCCAGCTTCCTCCAGGGGGACACTAGAGTGCATCATCAAATCA GGAAATTGATCCAGACCCCTTCCCATCTCCCAGCTTCCTCCAGGGCAGGG CACTAGAGTGCATCATCAAACGAGGAAATTGATCCAGACCCCTTCCCATC TCCCAGCTTCCTCCAGGGGGACACTAGAGTGCATCATCAAACGAGGAAAT TGATCCAGACCCCTTCCCATCTCCCAGCTTCCTCCAGGGGGACACTAGAG TGCATCATCAAACGAGGAAATTGATCCAGACCCCTTCCCATCTCCCAGCT TCCTCCAGGGCGGGGCACTAGAGTGCATCATCAAACCAGGAAATTGATCC AGACCCCTTCCCATCTCCCAGCTTCCTCCAGGGGGACACTAGAGTGCATC ATCAAATCAGGAAATTGATCCAGACCCCTTCCCATCTCCCAGCTTCCTCG AGGGCAGGGCACTAGAGTGCATCATCAAACCAGGAAATTGATCCAGACCC CTTCCCATCTCCCAGCTTCCTCCAGGGGGGACACTAGAGTGCATCATCAC ACCAGGAAATTGATCCAGACCCCTTCCCATCTCCCAGCTTCCTCCAGGGG GACACTAGAGTGCATCATCAAATCAGGAAATTGATCCAGACCCCTTCCCA TCTCCCAGCTTCCTC	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	12/21			chr17	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(784): Show GTATATATACATGTATATATATACAAGTATATATACATGTATATATATAC AAGTATATATATATACTTGTATATATATATACAAGTATATATATATACTT GTATACATATATACTATATATATACGTATATACACGTATATACGTATATA TACGTATATATACGTATATACATGTATATATACGTATATACATGTATATA CGTATATATACACATATATACATGTATATATACGTATATATACACATATA TACATGTATATATATACGTATATATACACATATATACATGTATATATATA CGTATATATACACATATATACATGTATATATATACGTATATATACACATA TATACATGTATATATACATGTATATATACACATATATACATGCGTATATA TATACGTATATATACATGTATATATATACGTATATATACACATATATACA TGTATATATACGTATATATACACATATATACATGTATATATATACGTATA TATACACATATATACATGTATATATATACGTATATATACACATATATACA TGTATATATATACGTATATATACACATATATACATGTATATATATACGTA TATATACACATATATACATGTATATATACACATATATACATGCGTATATA TATACGTATGTATATATGTATATATACGTATATACATGTATATATATATA CGTATATATACATATATACGTATATATATATACGTATATATACATATATA TACATGTATATATATGTGTGTATATATATACGTATATATACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG06807.hp2 HG00738.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0254 a0001c0001t0001g0255	2	383	0.0052	791	c.-42 others(802): Show c.-4232_-4231insTATATATACATGTATATATATACAAGTATATATA CATGTATATATATACAAGTATATATATATACTTGTATATATATATACAAG TATATATATATACTTGTATACATATATACTATATATATACGTATATACAC GTATATACGTATATATACGTATATATACGTATATACATGTATATATACGT ATATACATGTATATACGTATATATACACATATATACATGTATATATACGT ATATATACACATATATACATGTATATATATACGTATATATACACATATAT ACATGTATATATATACGTATATATACACATATATACATGTATATATATAC GTATATATACACATATATACATGTATATATACATGTATATATACACATAT ATACATGCGTATATATATACGTATATATACATGTATATATATACGTATAT ATACACATATATACATGTATATATACGTATATATACACATATATACATGT ATATATATACGTATATATACACATATATACATGTATATATATACGTATAT ATACACATATATACATGTATATATATACGTATATATACACATATATACAT GTATATATATACGTATATATACACATATATACATGTATATATACACATAT ATACATGCGTATATATATACGTATGTATATATGTATATATACGTATATAC ATGTATATATATATACGTATATATACATATATACGTATATATATATACGT ATATATACATATATATACATGTATATATATGTGTGTATATATATACGTAT ATATACA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(784): Show GTATATATACATGTATATATATACAAGTATATATACATGTATATATATAC AAGTATATATATATACTTGTATATATATATACAAGTATATATATATACTT GTATACATATATACTATATATATACGTATATACACGTATATACGTATATA TATGTATATATACGTATATACATGTATATATACGTATATACATGTATATA CGTATATATACACATATATACATGTATATATACGTATATATACACATATA TACATGTATATATATACGTATATATACACATATATACATGTATATATATA CGTATATATACACATATATACATGTATATATATACGTATATATACACATA TATACATGTATATATACATGTATATATACACATATATACATGCGTATATA TATACGTATATATACATGTATATATATACGTATATATACACATATATACA TGTATATATACGTATATATACACATATATACATGTATATATATACGTATA TATACACATATATACATGTATATATATACGTATATATACACATATATACA TGTATATATATACGTATATATACACATATATACATGTATATATATACGTA TATATACACATATATACATGTATATATACACATATATACATGCGTATATA TATACGTATGTATATATGTATATATACGTATATACATGTATATATATATA CGTATATATACATATATACGTATATATATATACGTATATATACATATATA TACATGTATATATATGTGTGTATATATATACGTATATATACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0262 a0002c0002t0003g0262	1	383	0.0026	791	c.-42 others(802): Show c.-4232_-4231insTATATATACATGTATATATATACAAGTATATATA CATGTATATATATACAAGTATATATATATACTTGTATATATATATACAAG TATATATATATACTTGTATACATATATACTATATATATACGTATATACAC GTATATACGTATATATATGTATATATACGTATATACATGTATATATACGT ATATACATGTATATACGTATATATACACATATATACATGTATATATACGT ATATATACACATATATACATGTATATATATACGTATATATACACATATAT ACATGTATATATATACGTATATATACACATATATACATGTATATATATAC GTATATATACACATATATACATGTATATATACATGTATATATACACATAT ATACATGCGTATATATATACGTATATATACATGTATATATATACGTATAT ATACACATATATACATGTATATATACGTATATATACACATATATACATGT ATATATATACGTATATATACACATATATACATGTATATATATACGTATAT ATACACATATATACATGTATATATATACGTATATATACACATATATACAT GTATATATATACGTATATATACACATATATACATGTATATATACACATAT ATACATGCGTATATATATACGTATGTATATATGTATATATACGTATATAC ATGTATATATATATACGTATATATACATATATACGTATATATATATACGT ATATATACATATATATACATGTATATATATGTGTGTATATATATACGTAT ATATACA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
ADAMTS3_chr4_72275969_72574221	72456228	G G	GTACTATA others(785): Show GTACTATATATTTTATATATAGTATGTACTATATATTTTATATATAGTAT GTACTATATATATTTTATATATAGTATGTACATTGTATATACTATATATA TATTTTATGTATAGTATGTACTATATATATTTTATGTATAGTATGTACAT TGTATATACTATATATATATTTTATGTATAGTATGTACTATATATATTTT ATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATA TATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGT ACTATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATT TTATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTA TATATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTAT GTACTATATATATTTTATGTATAGTATATATACTGTATGTACTATATATA TTTTATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAG TATATATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGT ATGTACTATATATATTTTATGTATAGTATATATACTGTATGTACTATATA TATTTTATGTATAGTATATATACTGTATATACTATATATATTTTATGTAT AGTATATATACTGTATATACTATATATATTTTATGTATAGTATATATACT GTATATACTATATATATTTTATGTATAGTATATATACTGTATA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0021 a0001c0001t0003g0021	1	182	0.0055	792	c.505 others(811): Show c.505-41258_505-41257insTATACAGTATATATACTATACATAAA ATATATATAGTATATACAGTATATATACTATACATAAAATATATATAGTA TATACAGTATATATACTATACATAAAATATATATAGTATATACAGTATAT ATACTATACATAAAATATATATAGTACATACAGTATATATACTATACATA AAATATATATAGTACATACAGTATATATACTATACATAAAATATATATAG TACATACAGTATATATACTATACATAAAATATATATAGTACATACAGTAT ATATACTATACATAAAATATATATAGTACATACAGTATATATACTATACA TAAAATATATATAGTACATACAGTATATATACTATACATAAAATATATAT AGTACATACAGTATATATACTATACATAAAATATATATAGTACATACAGT ATATATACTATACATAAAATATATATAGTACATACAGTATATATACTATA CATAAAATATATATAGTACATACAGTATATATACTATACATAAAATATAT ATAGTACATACAGTATATATACTATACATAAAATATATATAGTACATACA GTATATATACTATACATAAAATATATATAGTACATACTATACATAAAATA TATATATAGTATATACAATGTACATACTATACATAAAATATATATAGTAC ATACTATACATAAAATATATATATAGTATATACAATGTACATACTATATA TAAAATATATATAGTACATACTATATATAAAATATATAGTACATACTATA TATAAAATATATAGTA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADARB2_chr10_1172313_1742525	1464536	C C	CCCCCACA others(785): Show CCCCCACACACGCGCGGGGGGCAGTCACAGTGGGCAGCGTGCTGGAGAAG AGGGTGGACACACACTCCCCCACACACGCGCGGGGGGCAGTCACAGCAGG CAGCGCGCCGGAGAAGAGGGTGGACACACACTCCCCCACACACGCGCGGG GGGCAGTCACAGTGGGCAGCGTGCTGGAGAAGACGGTGGACACACACTCC CCCGCACACGCGCTGGGGGCAGTCACAGCGGGCAGCGCGCTGGAGAAGAG GGTGGACACACACTCCCCCACACACGCGCTGGGGGCAGTCACAGCGGGCA GTGCGCCGGAGAAGAGGGTGGACACACACTCCCCCACACACGCGCTGGGG ACAGTCACAGCGGGCAGCGTGCTGGAGAAGAGGGTGGACACACACTCCCC CACACACGCGCTGGGGGCAGTCACAGCGGGCAGCGTGCTGGAGAAGAGGG TGGACACACACTCCCCCACACACGCGCTGGGGGCAGTCACAGTGGGCAGC GTGCTGGAGAAGAGGGTGGACACACACTCCCCCGCACACGCGCTGGGGGC AGTCACAGCAGGCAGTGCGCCGGAGAAGAGGGTGGACACACACTCCCCCA CACACGCGCGGGGGGCAGTCACAGTGGGCAGCGTGCTGGAGAAGAGGGTG GACACACACTCCCCCGCACACGCGCTGGGGGCAGTCACAGCAGGCAGTGC GCCGGAGAAGAGGGTGGACACACACTCCCCCACACACGCGCTGGGGGCAG TCACAGCGGGCAGCGTGCTGGAGAAGAGGGTGGACACACACTA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0029 a0002c0004t0005g0029	1	106	0.0094	792	c.101 others(811): Show c.101-85377_101-85376insTAGTGTGTGTCCACCCTCTTCTCCAG CACGCTGCCCGCTGTGACTGCCCCCAGCGCGTGTGTGGGGGAGTGTGTGT CCACCCTCTTCTCCGGCGCACTGCCTGCTGTGACTGCCCCCAGCGCGTGT GCGGGGGAGTGTGTGTCCACCCTCTTCTCCAGCACGCTGCCCACTGTGAC TGCCCCCCGCGCGTGTGTGGGGGAGTGTGTGTCCACCCTCTTCTCCGGCG CACTGCCTGCTGTGACTGCCCCCAGCGCGTGTGCGGGGGAGTGTGTGTCC ACCCTCTTCTCCAGCACGCTGCCCACTGTGACTGCCCCCAGCGCGTGTGT GGGGGAGTGTGTGTCCACCCTCTTCTCCAGCACGCTGCCCGCTGTGACTG CCCCCAGCGCGTGTGTGGGGGAGTGTGTGTCCACCCTCTTCTCCAGCACG CTGCCCGCTGTGACTGTCCCCAGCGCGTGTGTGGGGGAGTGTGTGTCCAC CCTCTTCTCCGGCGCACTGCCCGCTGTGACTGCCCCCAGCGCGTGTGTGG GGGAGTGTGTGTCCACCCTCTTCTCCAGCGCGCTGCCCGCTGTGACTGCC CCCAGCGCGTGTGCGGGGGAGTGTGTGTCCACCGTCTTCTCCAGCACGCT GCCCACTGTGACTGCCCCCCGCGCGTGTGTGGGGGAGTGTGTGTCCACCC TCTTCTCCGGCGCGCTGCCTGCTGTGACTGCCCCCCGCGCGTGTGTGGGG GAGTGTGTGTCCACCCTCTTCTCCAGCACGCTGCCCACTGTGACTGCCCC CCGCGCGTGTGTGGGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ANXA2_chr15_60342151_60402986	60349939	C C	CAGGGGAA others(785): Show CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCA GGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGG GGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGG GAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01070.hp2 homoSapiens_chm13v2.hp1 HG01070.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0185 a0001c0001t0001g0119 a0001c0001t0001g0185	2	334	0.0060	792	c.838 others(807): Show c.838-743_838-742insCCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCC CTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60349957	C C	CAGGGGAA others(785): Show CAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGG CAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAA GGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGG GGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGG CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	334	0.0030	792	c.838 others(807): Show c.838-761_838-760insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCC CTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCC CTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350065	C C	CAGGGGAA others(785): Show CAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCA GGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGG GGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGG CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	334	0.0030	792	c.838 others(807): Show c.838-869_838-868insCCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGC CTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCC CTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCC CTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ASAP2_chr2_9201812_9410678	9406284	C C	CGTCTTCC others(785): Show CGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTG ACATCTAGTCTTCCTCAGGCAGGCCTTCAGTGTGTGTTTGTCACTGAGTG GACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCAC TGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTT TGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTG TGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCT TCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTC AGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTC TTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACAT CTAGTCTTCCTCAGGCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACC TCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAG TGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTC ACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTG TTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAG TGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGC CTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0178 a0001c0011t0001g0178	1	210	0.0048	792	c.29 others(803): Show c.2957_*2958insGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACT GAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCAGGCCTTCAGTGTGT GTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCA GTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGG CCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTC CTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTA GTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGA CATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCT CTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGT GGACCTCTGTGACATCTAGTCTTCCTCAGGCAGGCCTTCAGTGTGTGTTT GTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGT GTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTT CAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCA GGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCT TCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATC TAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGT GACATCTA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding		607		chr2	TogoVar
ATP9B_chr18_79064394_79383283	79200703	T T	TGTCAGAG others(785): Show TGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGG AGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGG GTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGA GGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGG TCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAG GTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGG TGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGT GGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCA GAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTG GGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAG AGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGCGGAGGTGG GAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGA GCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGG AACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGG	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0050 a0001c0001t0010g0050	1	298	0.0034	792	c.955 others(809): Show c.955-6211_955-6210insAACTGTCGGGGTCAGAGCAGAGGTGGAG GTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGG TGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGT GGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCA GAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTG GGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAG AGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGG GAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGA GCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGG GACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAG CAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGA ACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGC AGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAA CTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCA GAGGTGGAGGTGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	9/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79308962	C C	CTGAGGAG others(785): Show CTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCC CCAGCAGGTAGAAGGTCAGAGGCTGAGGAGTGATCCCCAGCAGGTAGAAG GTCAGAGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGG AGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCA GGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGG GGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTGGAGGAGTGAT CCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGA AGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGAGGCTGA GGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAG CAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCA GGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTGGAGGAGTG ATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTA GAAGGTCAGGGGCTGAGTAGTGATCCTCCGCAGGTAGAAGGTCAGGGGCT GAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCTC CGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGT CAGGGGTGGAGGAGTGATCTCCAGCAGGTAGAAGGTCAGGGGT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	298	0.0034	792	c.177 others(811): Show c.1773+1763_1773+1764insCTGAGGAGTGATCCCCAGCAGGTAGA AGGTCAGAGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGAGGCTGA GGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAG CAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCA GGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTG ATCCCCAGCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCCCCAGCAGGTA GAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCT GAGGAGTGATCCCCAGCAGGTAGAAGGTCAGAGGCTGAGGAGTGATCCCC AGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGT CAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAG TGATCCCCAGCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCCCCAGCAGG TAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGG CTGAGTAGTGATCCTCCGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCC CCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCTCCGCAGGTAGAAG GTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTGGAGG AGTGATCTCCAGCAGGTAGAAGGTCAGGGGTTGAGGAGTGATCCCCAGCA GGTAGAAGGTCAGGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79309107	G G	GGAGGAGT others(785): Show GGAGGAGTGATCTCCAGCAGGTAGAAGGTCAGGGGTTGAGGAGTGATCCC CAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGG TCAGGGGCGGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGATGGAGGA GTGATCCCCAGCAGGTAGAAGGTCAGGGGTTGAGGAGTGATCCCCAGCAG GTAGAAGGTCAGGGGTTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGG GTGGAGGAGTGATCTCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATC CCCAGCAGGTAGAAGGTCAGGGGCTGAGTAGTGATCCTCCGCAGGTAGAA GGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTGGAG GAGTGATCTCCAGCAGGTAGAAGGTCAGGGGTTGAGGAGTGATCTCCAGC AGGTAGAAGGTCAGGGGTGGAGGAGTGATCTCCAGCAGGTAGAAGGTCAG GGGTTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGA TCCCCAGCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCCCCAGCAGGTAG AAGGTCAGGGGTGGAGGAGTGATCTCCAGCAGGTAGAAGGTCAGGGGTGG AGGAGTGATCTCCAGCAGGTAGAAGGTCAGGGATTGAGGAGTGATCCCCA GCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTC AGGGGTTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0006 a0001c0014t0006	a0001c0014t0006g0017 a0001c0014t0006g0017	1	298	0.0034	792	c.177 others(811): Show c.1773+1874_1773+1875insAGGAGTGATCTCCAGCAGGTAGAAGG TCAGGGGTTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGA GTGATCCCCAGCAGGTAGAAGGTCAGGGGCGGAGGAGTGATCCCCAGCAG GTAGAAGGTCAGGGATGGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGG GTTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTTGAGGAGTGATC CCCAGCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCTCCAGCAGGTAGAA GGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAG TAGTGATCCTCCGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGC AGGTAGAAGGTCAGGGGTGGAGGAGTGATCTCCAGCAGGTAGAAGGTCAG GGGTTGAGGAGTGATCTCCAGCAGGTAGAAGGTCAGGGGTGGAGGAGTGA TCTCCAGCAGGTAGAAGGTCAGGGGTTGAGGAGTGATCCCCAGCAGGTAG AAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTGG AGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCTCCA GCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCTCCAGCAGGTAGAAGGTC AGGGATTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGT GATCCCCAGCAGGTAGAAGGTCAGGGGTTGAGGAGTGATCCCCAGCAGGT AGAAGGTCAGGGGTTG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
BAIAP2L2_chr22_38079900_38115684	38110135	G G	GGAGAGAG others(785): Show GGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAG AGAGAGAGAGAGGGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGAGAG GGAGGGGGGGAGAGAGAGAGGAGGGAGAGAGAGAGGAGAGAGGGGAGAGA GAAGAGGAGAGAGCAGAGAGAGAGAGAGAGAGAGAGAGGGACGGGGGAGG ACGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGA GAGAGAGAGAGAGAGGGGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAG AGAGAGGGAGGGGGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGGGAG AGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGAGAGGGAGGGGGAGAGAG AGAGAGAGAGGGATAGAGAGAGAGAGAGAGAGGTGAGAGAGAGAGAGAGA GAGAGGGAGAGAGAGAGAGAGAGGGAGAGAGAGAAGAGAGAGAGAGGGAG AGAGAGAGAGAGACATGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGA GGGATAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGGGATA GAGAGAGAGAGAGAGAGAGGGAGAGGAGAGAGGGAGAGAGGAGAGAGAGG AGAGAGAGAGAGAGAGAGGGAGAGAGAGACAGAGAGAGAGAGAGGGGAGA GAGAGAGAGAGAGGGAGAGGAGAGAGAGAGAGAGAGGGAGAGGAGAGAGA GAGAGAGAGAGGGAGAGAGAGAGAGAGACAGGGAGAGAGAGAC	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0007 a0007	a0007c0005 a0007c0005	a0007c0005t0002 a0007c0005t0002	a0007c0005t0002g0016 a0007c0005t0002g0016	1	18	0.0556	792	c.51+ others(805): Show c.51+339_51+340insGTCTCTCTCTCCCTGTCTCTCTCTCTCTCTCC CTCTCTCTCTCTCTCTCTCCTCTCCCTCTCTCTCTCTCTCTCCTCTCCCT CTCTCTCTCTCTCTCCCCTCTCTCTCTCTCTGTCTCTCTCTCCCTCTCTC TCTCTCTCTCTCCTCTCTCTCCTCTCTCCCTCTCTCCTCTCCCTCTCTCT CTCTCTCTCTCTATCCCTCTCTCTCTCTCTCTCTCCCTCTCTCTCTCTCT CTCTCTATCCCTCTCTCTCTCTCTCTCCCTCTCTCTCTCTCTCTCATGTC TCTCTCTCTCTCTCCCTCTCTCTCTCTTCTCTCTCTCCCTCTCTCTCTCT CTCTCCCTCTCTCTCTCTCTCTCTCTCACCTCTCTCTCTCTCTCTCTATC CCTCTCTCTCTCTCTCTCCCCCTCCCTCTCTCTCTCTCTCTCTCTCTGTC TCTCTCTCTCTCTCCCTCTCTCTCTCTCTCTCCCTCTCTCTCTCTCTCCC CCTCCCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCCCCTCT CTCTCTCTCTCTCTCTCTCCCTCTCTCTCTCTCTCTCTCTCTCCCTCTCT CTCTCTCTCGTCCTCCCCCGTCCCTCTCTCTCTCTCTCTCTCTCTCTGCT CTCTCCTCTTCTCTCTCCCCTCTCTCCTCTCTCTCTCCCTCCTCTCTCTC TCCCCCCCTCCCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCCC TCTCTCTCTCTCTCTCTCTCTCTCCCTCTCTCTCTCTCTCTCTCTCCCTC TCTCTCTCTC	BAIAP2L2	ENSG00000128298.18	transcript	ENST00000381669.8	protein_coding	1/13			chr22	TogoVar
C1QTNF12_chr1_1237453_1251722	1249037	G G	GCGAGGGA others(785): Show GCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCA GCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACA GGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCT CCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACC GAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGC CCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGG CCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCC CACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGA GGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCC TGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCC GGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCA CTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGG GAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTG GGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGG GACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACT CCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	328	0.0031	792	c.-23 others(803): Show c.-2348_-2347insGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCT GTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCT GCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGT CCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGG CCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGT AGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGC CCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCC AGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCC CAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAG GGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCC GTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAG CCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCA GCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGG CGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGT GTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCC TCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGC CTCCCTCG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding		2316		chr1	TogoVar
C1QTNF12_chr1_1237453_1251722	1249037	G G	GCGAGGGA others(785): Show GCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCA GCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACA GGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCT CCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACC GAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGC CCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGG CCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCC CACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGAGCGA GGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCC TGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCC GGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCA CTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGG GAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTG GGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGG GACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACT CCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	328	0.0031	792	c.-23 others(803): Show c.-2348_-2347insGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCT GTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCT GCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGT CCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGG CCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGT AGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGC CCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCC AGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCC CAGCCTCCCTCGCTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAG GGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCC GTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAG CCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCA GCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGG CGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGT GTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCC TCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGC CTCCCTCG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding		2316		chr1	TogoVar
CDON_chr11_125951821_126067866	126065159	G G	GTGATAGT others(785): Show GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTA AGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0226 a0004c0005t0002g0226	1	334	0.0030	792	c.-26 others(803): Show c.-2643_-2642insATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCAAT CACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCA	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2294		chr11	TogoVar
CFAP20DC_chr3_58737008_59055025	58786706	T T	TAAGATAT others(785): Show TAAGATATGCCAAAGAGCGACCCCTCTCCAAGAGGGATCACTCACAGGCA CTGGTTATTGGCTGGGAGCTCAGCCTGGATTGAGAGATAGGAACTTCATT CCTCTCCATGTGGGTCTCTTCATGTAGCCCAGGCTTCCTCACTGCACGGT GGCTGGCTGCTGAGGGAAAGTGACTCAAGGACCGTATTGCCTCTTAAGAC CCAGGCTTGGAAGTTATACAGTGTTGTCTATCACGTGTGTCAGTCTAATG ACACACAAATTAAGGGGAAGGGACATAACCCCCACCTCTTGAGGGTGAGT GGCAAAGTTTTGGAAGAGCATGTGGGATGGGATATATTGTTGTAGTTATT TTTGAAAAATACAATTTGCTACGTCAGGTATGACATTTTATTACATTCTT TAAAATGTGACAATTGTCCTTCCCTTTTTAAGTTACAAACAAAAAGTAAA ACTAAAGAAGTATCGTGATTTTCTTTAGGCAAAAATCAGTCAACTAGTTT GAAAGTCATTAGTGAAAATATGGAGAAATATTAATTCCAGATAATCAGGT TAAAATGGAGACCTAGCATTATTTGGCCAATTAATTGACAGAATGTTACA AGATGCCAAAGACTGGTAGCATCAAATACTGTATTCCAGACTATAATAGG CAGTAAACTGGAAACATAATCTGTAATTCTGTAAATTGAATTATTGTTGA ATGAATTAATTTTTCCGTATCTGTAATATTTTTACCTTATGTAATAAAAA CCATAAATCTGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA19001.hp2 NA18939.hp2 NA19001.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0023 a0001c0002t0002g0031 a0001c0002t0002g0023 a0001c0002t0002g0031	2	204	0.0098	792	c.223 others(813): Show c.2237+19688_2237+19689insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTCCAGATTTATGGTTTTTATTACATAAGGTAAAAATATTACAGA TACGGAAAAATTAATTCATTCAACAATAATTCAATTTACAGAATTACAGA TTATGTTTCCAGTTTACTGCCTATTATAGTCTGGAATACAGTATTTGATG CTACCAGTCTTTGGCATCTTGTAACATTCTGTCAATTAATTGGCCAAATA ATGCTAGGTCTCCATTTTAACCTGATTATCTGGAATTAATATTTCTCCAT ATTTTCACTAATGACTTTCAAACTAGTTGACTGATTTTTGCCTAAAGAAA ATCACGATACTTCTTTAGTTTTACTTTTTGTTTGTAACTTAAAAAGGGAA GGACAATTGTCACATTTTAAAGAATGTAATAAAATGTCATACCTGACGTA GCAAATTGTATTTTTCAAAAATAACTACAACAATATATCCCATCCCACAT GCTCTTCCAAAACTTTGCCACTCACCCTCAAGAGGTGGGGGTTATGTCCC TTCCCCTTAATTTGTGTGTCATTAGACTGACACACGTGATAGACAACACT GTATAACTTCCAAGCCTGGGTCTTAAGAGGCAATACGGTCCTTGAGTCAC TTTCCCTCAGCAGCCAGCCACCGTGCAGTGAGGAAGCCTGGGCTACATGA AGAGACCCACATGGAGAGGAATGAAGTTCCTATCTCTCAATCCAGGCTGA GCTCCCAGCCAATAACCAGTGCCTGTGAGTGATCCCTCTTGGAGAGGGGT CGCTCTTTGGCATATCTT	CFAP20DC	ENSG00000163689.21	transcript	ENST00000482387.7	protein_coding	15/16			chr3	TogoVar
CFAP20DC_chr3_58737008_59055025	58786706	T T	TAAGATAT others(785): Show TAAGATATGCCAAAGAGCGACCCCTCTCCAAGAGGGATCACTCACAGGCA CTGGTTATTGGCTGGGAGCTCAGCCTGGATTGAGAGATAGGAACTTCATT CCTCTCCATGTGGGTCTCTTCATGTAGCCCAGGCTTCCTCACTGCACGGT GGCTGGCTGCTGAGGGAAAGTGACTCAAGGACCGTATTGCCTCTTAAGAC CCAGGCTTGGAAGTTATACAGTGTTGTCTATCACGTGTGTCAGTCTAATG ACACACAAATTAAGGGGAAGGGACATGACCCCCACCTCTTGAGGGTGAGT GGCAAAGTTTTGGAAGAGCATGTGGGATGGGATATATTGTTGTAGTTATT TTTGAAAAATACAATTTGCTACGTCAGGTATGACATTTTATTACATTCTT TAAAATGTGACAATTGTCCTTCCCTTTTTAAGTTACAAACAAAAAGTAAA ACTAAAGAAGTATCGTGATTTTCTTTAGGCAAAAATCAGTCAACTAGTTT GAAAGTCATTAGTGAAAATATGGAGAAATATTAATTCCAGATAATCAGGT TAAAATGGAGACCTAGCATTATTTGGCCAATTAATTGACAGAATGTTACA AGATGCCAAAGACTGGTAGCATCAAATACTGTATTCCAGACTATAATAGG CAGTAAACTGGAAACATAATCTGTAATTCTGTAAATTGAATTATTGTTGA ATGAATTAATTTTTCCGTATCTGTAATATTTTTACCTTATGTAATAAAAA CCATAAATCTGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0114 a0001c0002t0002g0114	1	204	0.0049	792	c.223 others(813): Show c.2237+19688_2237+19689insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTCCAGATTTATGGTTTTTATTACATAAGGTAAAAATATTACAGA TACGGAAAAATTAATTCATTCAACAATAATTCAATTTACAGAATTACAGA TTATGTTTCCAGTTTACTGCCTATTATAGTCTGGAATACAGTATTTGATG CTACCAGTCTTTGGCATCTTGTAACATTCTGTCAATTAATTGGCCAAATA ATGCTAGGTCTCCATTTTAACCTGATTATCTGGAATTAATATTTCTCCAT ATTTTCACTAATGACTTTCAAACTAGTTGACTGATTTTTGCCTAAAGAAA ATCACGATACTTCTTTAGTTTTACTTTTTGTTTGTAACTTAAAAAGGGAA GGACAATTGTCACATTTTAAAGAATGTAATAAAATGTCATACCTGACGTA GCAAATTGTATTTTTCAAAAATAACTACAACAATATATCCCATCCCACAT GCTCTTCCAAAACTTTGCCACTCACCCTCAAGAGGTGGGGGTCATGTCCC TTCCCCTTAATTTGTGTGTCATTAGACTGACACACGTGATAGACAACACT GTATAACTTCCAAGCCTGGGTCTTAAGAGGCAATACGGTCCTTGAGTCAC TTTCCCTCAGCAGCCAGCCACCGTGCAGTGAGGAAGCCTGGGCTACATGA AGAGACCCACATGGAGAGGAATGAAGTTCCTATCTCTCAATCCAGGCTGA GCTCCCAGCCAATAACCAGTGCCTGTGAGTGATCCCTCTTGGAGAGGGGT CGCTCTTTGGCATATCTT	CFAP20DC	ENSG00000163689.21	transcript	ENST00000482387.7	protein_coding	15/16			chr3	TogoVar
CFAP46_chr10_132803392_132947570	132914127	C C	CCCCGAGG others(785): Show CCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG CCCGAGGCTGTGTCCAGCCACACTGCACCCCGCCCCGAGGCTGTGTCCAG CCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGC CCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGC CACACTGCACCCCGCCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCC CGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCC ACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCC GAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCA CACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCG AGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCAC ACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGA GGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACA CTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAG GCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACAC TGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0122 a0008c0009t0001g0122	1	246	0.0041	792	c.212 others(809): Show c.2121-870_2121-869insCCGGGGTGCAGTGTGGCTGGACACAGCC TCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGT GTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCT CGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTG TGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTC GGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGT GGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCG GGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTG GCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGG GCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGG CTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGG GCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGC TGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGC CGGGGTGCAGTGTGGCTGGACACAGCCTCGGGGCGGGGTGCAGTGTGGCT GGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCC GGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTG GACACAGCCTCGGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
CHRNA3_chr15_78590309_78625996	78599765	T T	TAGCACTT others(785): Show TAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCG AGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCACCCCACCCACCGAC CTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACACCTGTA GTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCCCAGGAG TTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATGTGGATG ACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAATTAAAAAAAGGCTAA AAATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTTGGTAGAAAT AGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCG ATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCAC TTTACCCATCCCCTCACTTTTATTATTTATTATCTTTTAAGAGATGAGGT CTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGCAATCCT CCTGCTTTGGCCTTCCAAACTGCTGGGATTACAGGTGTGAGCCACTGTGC CTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAAAACTCTTCA GCTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCCGGCCTCAGC TACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGAAACTCAAGA ATAGTAAAACTGGCCGGGTGCAGTGGCTCACACCTGTAATCCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00423.hp2 others(83): Show HG00280.hp1 HG00280.hp2 HG00423.hp2 HG00544.hp1 HG00673.hp1 HG00733.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01496.hp2 HG01884.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02074.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02486.hp1 HG02559.hp1 HG02698.hp1 HG02717.hp2 HG02735.hp1 HG02818.hp1 HG02896.hp1 HG02922.hp1 HG03041.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03540.hp2 HG03579.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18947.hp2 NA18962.hp1 NA18963.hp2 NA18965.hp1 NA18968.hp2 NA18969.hp2 NA18974.hp2 NA18975.hp1 NA18984.hp2 NA18988.hp1 NA18990.hp1 NA18992.hp2 NA18994.hp1 NA19000.hp2 NA19009.hp1 NA19012.hp1 NA19056.hp1 NA19057.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19074.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20805.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0003 a0001c0004 a0001c0006 others(6): Show a0001c0003 a0001c0004 a0001c0006 a0002c0002 a0002c0009 a0002c0014 a0003c0010 a0004c0011 a0005c0013	a0001c0003t0002 a0001c0004t0002 a0001c0004t0008 others(10): Show a0001c0003t0002 a0001c0004t0002 a0001c0004t0008 a0001c0006t0002 a0002c0002t0002 a0002c0002t0005 a0002c0002t0015 a0002c0002t0024 a0002c0009t0005 a0002c0014t0002 a0003c0010t0002 a0004c0011t0004 a0005c0013t0016	a0001c0003t0002g0289 a0001c0004t0002g0134 a0001c0004t0008g0007 others(47): Show a0001c0003t0002g0289 a0001c0004t0002g0134 a0001c0004t0008g0007 a0001c0004t0008g0033 a0001c0004t0008g0110 a0001c0006t0002g0207 a0001c0006t0002g0208 a0002c0002t0002g0001 a0002c0002t0002g0010 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0066 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0072 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0083 a0002c0002t0002g0085 a0002c0002t0002g0087 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0005g0030 a0002c0002t0015g0084 a0002c0002t0024g0296 a0002c0009t0005g0071 a0002c0014t0002g0078 a0003c0010t0002g0019 a0004c0011t0004g0101 a0004c0011t0004g0102 a0005c0013t0016g0093	86	410	0.2098	792	c.138 others(811): Show c.1389+1487_1389+1488insGGGATTACAGGTGTGAGCCACTGCAC CCGGCCAGTTTTACTATTCTTGAGTTTCATATAAATGGAATCACATAGTA TATAAACTTTTCCCGTAGCTGAGGCCGGGGCTGTTTGGTCCCTGATGTGT GGAACTTCAGTCTTAGCTGAAGAGTTTTGTATCCAGCTACTCTCTCTTTA AGTGAGGCTATGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCAGTT TGGAAGGCCAAAGCAGGAGGATTGCTTGAGGCCAGGAGTTAGAGACCAGC CTGGGCAACATAGTGAGACCTCATCTCTTAAAAGATAATAAATAATAAAA GTGAGGGGATGGGTAAAGTGGCTCATGCCTATAATCCCAGCACTTTGGGA GGCTGAGATGGGTAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGG CAACATGGCAAAACCCTATTTCTACCAAAAAAAATAAAAAAATAAAAGTG AGACTGCAATAAAATTTTTAGCCTTTTTTTAATTTTTTTTTTTTTTTTTG GGACAGTCTTGCTCTGTCATCCACATTGGAGTGCAGTGGAGCCATCGTAG CTCACTGTAGCCTCTAACTCCTGGGCTCAAGCGATCCTCCAACCTCAGCC TCCCAAATAGCTGGGACTACAGGTGTATGCCACCACACCCAGCTAATTTT TTTTTTAATTTGAAGAGGTCGGTGGGTGGGGTGGGGGGGGGTCTCACTGT GTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCAGTTCTCCTGCCTT GGCCTCCCAAAGTGCT	CHRNA3	ENSG00000080644.16	transcript	ENST00000326828.6	protein_coding	5/5			chr15	TogoVar
CHRNA3_chr15_78590309_78625996	78599765	T T	TAGCACTT others(785): Show TAGCACTTTGGGCGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCG AGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCACCCCACCCACCGAC CTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACACCTGTA GTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCCCAGGAG TTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATGTGGATG ACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAATTAAAAAAAGGCTAA AAATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTTGGTAGAAAT AGGGATTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCG ATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCAC TTTACCCATCCCCTCACTTTTATTATTTATTATCTTTTAAGAGATGAGGT CTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGCAATCCT CCTGCTTTGGCCTTCCAAACTGCTGGGATTACAGGTGTGAGCCACTGTGC CTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAAAACTCTTCA GCTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCCGGCCTCAGC TACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGAAACTCAAGA ATAGTAAAACTGGCCGGGTGCAGTGGCTCACACCTGTAATCCC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0002 a0006c0012t0002	a0006c0012t0002g0065 a0006c0012t0002g0065	1	410	0.0024	792	c.138 others(811): Show c.1389+1487_1389+1488insGGGATTACAGGTGTGAGCCACTGCAC CCGGCCAGTTTTACTATTCTTGAGTTTCATATAAATGGAATCACATAGTA TATAAACTTTTCCCGTAGCTGAGGCCGGGGCTGTTTGGTCCCTGATGTGT GGAACTTCAGTCTTAGCTGAAGAGTTTTGTATCCAGCTACTCTCTCTTTA AGTGAGGCTATGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCAGTT TGGAAGGCCAAAGCAGGAGGATTGCTTGAGGCCAGGAGTTAGAGACCAGC CTGGGCAACATAGTGAGACCTCATCTCTTAAAAGATAATAAATAATAAAA GTGAGGGGATGGGTAAAGTGGCTCATGCCTATAATCCCAGCACTTTGGGA GGCTGAGATGGGTAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGG CAACATGGCAAATCCCTATTTCTACCAAAAAAAATAAAAAAATAAAAGTG AGACTGCAATAAAATTTTTAGCCTTTTTTTAATTTTTTTTTTTTTTTTTG GGACAGTCTTGCTCTGTCATCCACATTGGAGTGCAGTGGAGCCATCGTAG CTCACTGTAGCCTCTAACTCCTGGGCTCAAGCGATCCTCCAACCTCAGCC TCCCAAATAGCTGGGACTACAGGTGTATGCCACCACACCCAGCTAATTTT TTTTTTAATTTGAAGAGGTCGGTGGGTGGGGTGGGGGGGGGTCTCACTGT GTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCAGTTCTCCTGCCTT GGCCGCCCAAAGTGCT	CHRNA3	ENSG00000080644.16	transcript	ENST00000326828.6	protein_coding	5/5			chr15	TogoVar
CHRNA5_chr15_78560520_78600269	78599765	T T	TAGCACTT others(785): Show TAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCG AGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCACCCCACCCACCGAC CTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACACCTGTA GTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCCCAGGAG TTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATGTGGATG ACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAATTAAAAAAAGGCTAA AAATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTTGGTAGAAAT AGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCG ATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCAC TTTACCCATCCCCTCACTTTTATTATTTATTATCTTTTAAGAGATGAGGT CTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGCAATCCT CCTGCTTTGGCCTTCCAAACTGCTGGGATTACAGGTGTGAGCCACTGTGC CTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAAAACTCTTCA GCTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCCGGCCTCAGC TACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGAAACTCAAGA ATAGTAAAACTGGCCGGGTGCAGTGGCTCACACCTGTAATCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00423.hp2 others(77): Show HG00280.hp1 HG00280.hp2 HG00423.hp2 HG00544.hp2 HG00673.hp1 HG00733.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01496.hp2 HG01884.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02074.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02486.hp1 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02818.hp1 HG02896.hp2 HG02922.hp2 HG03041.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03490.hp2 HG03540.hp2 HG03579.hp2 HG03834.hp2 HG03927.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18947.hp1 NA18962.hp1 NA18963.hp2 NA18965.hp2 NA18968.hp2 NA18969.hp2 NA18974.hp1 NA18975.hp2 NA18990.hp1 NA18992.hp1 NA19000.hp2 NA19009.hp2 NA19012.hp1 NA19056.hp2 NA19057.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19074.hp2 NA19078.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 others(6): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0026 a0001c0004t0008	a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0006 others(61): Show a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0027 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0069 a0001c0001t0002g0078 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0133 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0006g0083 a0001c0001t0006g0085 a0001c0001t0006g0097 a0001c0001t0006g0102 a0001c0001t0006g0108 a0001c0001t0006g0119 a0001c0001t0006g0120 a0001c0001t0006g0124 a0001c0001t0006g0134 a0001c0001t0006g0147 a0001c0001t0006g0248 a0001c0001t0006g0262 a0001c0001t0008g0135 a0001c0001t0011g0011 a0001c0001t0011g0079 a0001c0001t0011g0080 a0001c0001t0012g0136 a0001c0001t0012g0137 a0001c0001t0012g0219 a0001c0001t0013g0016 a0001c0001t0013g0027 a0001c0001t0013g0148 a0001c0001t0017g0220 a0001c0001t0017g0221 a0001c0001t0026g0157 a0001c0004t0008g0010 a0001c0004t0008g0071 a0001c0004t0008g0072 a0001c0004t0008g0073 a0001c0004t0008g0074	80	382	0.2094	792	c.65 others(803): Show c.6512_*6513insAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTT GAGTCCAGGAGTTCGAGACCAGCCTGGGCAACACAGTGAGACCCCCCCCC ACCCCACCCACCGACCTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGG TGGCATACACCTGTAGTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATC GCTTGAGCCCAGGAGTTAGAGGCTACAGTGAGCTACGATGGCTCCACTGC ACTCCAATGTGGATGACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAA TTAAAAAAAGGCTAAAAATTTTATTGCAGTCTCACTTTTATTTTTTTATT TTTTTTGGTAGAAATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAAC TCCTGGGCTCAAGCGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATT ATAGGCATGAGCCACTTTACCCATCCCCTCACTTTTATTATTTATTATCT TTTAAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTG GCCTCAAGCAATCCTCCTGCTTTGGCCTTCCAAACTGCTGGGATTACAGG TGTGAGCCACTGTGCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGG ATACAAAACTCTTCAGCTAAGACTGAAGTTCCACACATCAGGGACCAAAC AGCCCCGGCCTCAGCTACGGGAAAAGTTTATATACTATGTGATTCCATTT ATATGAAACTCAAGAATAGTAAAACTGGCCGGGTGCAGTGGCTCACACCT GTAATCCC	CHRNA5	ENSG00000169684.13	transcript	ENST00000299565.9	protein_coding		4497		chr15	TogoVar
CHRNA5_chr15_78560520_78600269	78599765	T T	TAGCACTT others(785): Show TAGCACTTTGGGCGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCG AGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCACCCCACCCACCGAC CTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACACCTGTA GTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCCCAGGAG TTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATGTGGATG ACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAATTAAAAAAAGGCTAA AAATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTTGGTAGAAAT AGGGATTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCG ATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCAC TTTACCCATCCCCTCACTTTTATTATTTATTATCTTTTAAGAGATGAGGT CTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGCAATCCT CCTGCTTTGGCCTTCCAAACTGCTGGGATTACAGGTGTGAGCCACTGTGC CTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAAAACTCTTCA GCTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCCGGCCTCAGC TACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGAAACTCAAGA ATAGTAAAACTGGCCGGGTGCAGTGGCTCACACCTGTAATCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0002 a0007c0008t0002	a0007c0008t0002g0153 a0007c0008t0002g0153	1	382	0.0026	792	c.65 others(803): Show c.6512_*6513insAGCACTTTGGGCGGCCAAGGCAGGAGAACTGCTT GAGTCCAGGAGTTCGAGACCAGCCTGGGCAACACAGTGAGACCCCCCCCC ACCCCACCCACCGACCTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGG TGGCATACACCTGTAGTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATC GCTTGAGCCCAGGAGTTAGAGGCTACAGTGAGCTACGATGGCTCCACTGC ACTCCAATGTGGATGACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAA TTAAAAAAAGGCTAAAAATTTTATTGCAGTCTCACTTTTATTTTTTTATT TTTTTTGGTAGAAATAGGGATTTGCCATGTTGCCCAGGCTGGTCTTGAAC TCCTGGGCTCAAGCGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATT ATAGGCATGAGCCACTTTACCCATCCCCTCACTTTTATTATTTATTATCT TTTAAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTG GCCTCAAGCAATCCTCCTGCTTTGGCCTTCCAAACTGCTGGGATTACAGG TGTGAGCCACTGTGCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGG ATACAAAACTCTTCAGCTAAGACTGAAGTTCCACACATCAGGGACCAAAC AGCCCCGGCCTCAGCTACGGGAAAAGTTTATATACTATGTGATTCCATTT ATATGAAACTCAAGAATAGTAAAACTGGCCGGGTGCAGTGGCTCACACCT GTAATCCC	CHRNA5	ENSG00000169684.13	transcript	ENST00000299565.9	protein_coding		4497		chr15	TogoVar
COL27A1_chr9_114150537_114317511	114278403	T T	TGGTGATA others(785): Show TGGTGATAGTGGGGGTGGGAGTGGAGTGGAGGTGAGGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGATGGTGATGGTGGTGGTGATGATGATGGTGGTG GTGATGGTGGTGGTGGTTGGTGGTGGTGATGATGGCGGGGGTGATGGTGG TGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTG GTGGTGATGATGATGGCGGGGGTGGTGGTGGTGGTGATGATGGCGGGGGT GATGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGG GGGTGGTGGTGGTGATGTTGATGGCGGGGGTGGTGGTGGTGATGATGATG GCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGGTGAT GATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGA TGATGATGGCGGGGGTGGTGGTGGTGATGTTGATGGCGGGGGTGGTGGTG GTGATGATGATGGCGGGGGTGGTGGTGGTGATGTTGATGGCGGGGGTGGT GGTGGTGATGATGATGGCAGGGGTGGTGGTGGTGATGATGATGGCGGGGG TGGTGGTGGTGATGTTGATGGCGGGGGTGGTGGTGGTGATGATGATGGCG GGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGAT GGCGGGGGTGGTGGTGGTGATGTTGATGGCGGGGGTGGTGGTGGTGATGA TGATGGCGGGGGTGGTGGTGGTGGTGATGATGGTGGGGGTGGG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0005 a0005	a0005c0026 a0005c0026	a0005c0026t0006 a0005c0026t0006	a0005c0026t0006g0024 a0005c0026t0006g0024	1	308	0.0033	792	c.371 others(811): Show c.3717+2639_3717+2640insATAGTGGGGGTGGGAGTGGAGTGGAG GTGAGGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGATGGTGGT GGTGATGATGATGGTGGTGGTGATGGTGGTGGTGGTTGGTGGTGGTGATG ATGGCGGGGGTGATGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGAT GATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGG TGGTGATGATGGCGGGGGTGATGGTGGTGATGATGATGGCGGGGGTGGTG GTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGTTGATGGCGGGGGT GGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGG GGGTGGTGGTGGTGGTGATGATGGCGGGGGTGGTGGTGGTGATGATGATG GCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGTT GATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGA TGTTGATGGCGGGGGTGGTGGTGGTGATGATGATGGCAGGGGTGGTGGTG GTGATGATGATGGCGGGGGTGGTGGTGGTGATGTTGATGGCGGGGGTGGT GGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGG TGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGTTGATGGCG GGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGGTGATGAT GGTGGGGGTGGGGGTG	COL27A1	ENSG00000196739.15	transcript	ENST00000356083.8	protein_coding	37/60		INFO_REALIGN_3_PRIME	chr9	TogoVar
COMMD9_chr11_36267292_36294424	36287120	T T	TACAATGT others(785): Show TACAATGTATATCATGTAGTATGTATACTACATACTATGTATATCATGTA GTATGTATACTACATACTATGTATATCATGTAGTATGTATACTACTATGT ATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTAT ACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATAT CATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCA CATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATG TAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATA CTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGT ATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACTAT GTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGT ATACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTAT ATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATAC CACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCA TGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACA TACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTA GTATGTATACCACATACTATGTATATCATGTAGTATGTATACC	intron_variant intron_variant	MODIFIER	HG03492.hp2 NA18941.hp1 HG03492.hp2 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	2	448	0.0045	792	c.51+ others(807): Show c.51+2241_51+2242insGGTATACATACTACATGATATACATAGTAT GTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTACAT GATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGG TATACATACTACATGATATACATAGTATGTGGTATACATACTACATGATA TACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATA CATACTACATGATATACATAGTATGTGGTATACATACTACATGATATACA TAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATA CTACATGATATACATAGTATGTGGTATACATACTACATGATATACATAGT ATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTAC ATGATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGT GGTATACATACTACATGATATACATAGTATGTGGTATACATACTACATGA TATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTA TACATACTACATGATATACATAGTATGTGGTATACATACTACATGATATA CATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACA TACTACATGATATACATAGTAGTATACATACTACATGATATACATAGTAT GTAGTATACATACTACATGATATACATAGTATGTAGTATACATACTACAT GATATACATTGT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COX6A1_chr12_120433113_120445730	120437284	T T	TTCAGGAG others(785): Show TTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCGGGAGGCGGAGATTG CAGTGAGCTGAGATCGCGCCACTGCACTCCTCCAGCCTGGCAACAGAGCA AGATTCCGTTTCAAAAAAAAAAAAAAAAAAGTTTACTGTCATTTTATGTT ATATACTTTTTTTTTAAAGTTTTATTTTTAAAGCTGCTTTTAGACAAGTC GAAGGAAGAAAGAAGGGGATAAGGAGGAAAGAATTTTGTAGACAAAATTT AACAGAGGTCAATTTTTTTTTTTTTTTTTTGTCTCCCAGGCTGGAGTGCA GTGGCATGATCTCAGCTCACTGCAACTTGCCCTCCCAGGTTCAAGCGATT CCTGTGCCTCAGCCACCCGGGTAGCTGGGATTACAGGTGTGCGCCACCAT GCCCAGGTAATTTTTGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGG CCAGGCGGGTCTCGAACTTCTGACGTCAAGTGATCAGCCAGTCTCGGCAT CCCAAAGTGCTGGGATTACAGGCGTGAACCACCACTCCCGGCCAGATGTC AATTTTTGTTTCCACAATTTCAAGGAAGAGAAAGCCAGTGTGACCAGAGG TCAAAAGATGAGAATGTTGGCCGGGTACGGTGGCTCATGCCTGTCATCCC ACTATTTTGGGAGGCCGAGGCAGACAGATCACCTGAGGTCAAGAGTTTGA GACCAGCCTGGCTAACATGGTGAAACACCGTCTCTACTAAAAATACAAAA GAATTTGCTGGGCGTGGTGGTGCGTGCCTGTAATCCCAGCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(167): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01070.hp2 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01517.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02129.hp2 HG02132.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02293.hp2 HG02451.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03942.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp2 NA18947.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp2 NA18962.hp1 NA18964.hp1 NA18965.hp1 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18999.hp1 NA19002.hp2 NA19003.hp1 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19055.hp1 NA19057.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19065.hp1 NA19066.hp1 NA19070.hp2 NA19072.hp2 NA19079.hp2 NA19082.hp1 NA19083.hp2 NA19084.hp1 NA19087.hp2 NA19088.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0032 a0001c0001t0001g0041 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0015 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0034 a0001c0001t0003g0001	170	426	0.3991	792	c.-84 others(801): Show c.-843_-842insTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCGG GAGGCGGAGATTGCAGTGAGCTGAGATCGCGCCACTGCACTCCTCCAGCC TGGCAACAGAGCAAGATTCCGTTTCAAAAAAAAAAAAAAAAAAGTTTACT GTCATTTTATGTTATATACTTTTTTTTTAAAGTTTTATTTTTAAAGCTGC TTTTAGACAAGTCGAAGGAAGAAAGAAGGGGATAAGGAGGAAAGAATTTT GTAGACAAAATTTAACAGAGGTCAATTTTTTTTTTTTTTTTTTGTCTCCC AGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACTTGCCCTCCCA GGTTCAAGCGATTCCTGTGCCTCAGCCACCCGGGTAGCTGGGATTACAGG TGTGCGCCACCATGCCCAGGTAATTTTTGTATTTTTAGTAGAGTTGGGGT TTCACCATGTTGGCCAGGCGGGTCTCGAACTTCTGACGTCAAGTGATCAG CCAGTCTCGGCATCCCAAAGTGCTGGGATTACAGGCGTGAACCACCACTC CCGGCCAGATGTCAATTTTTGTTTCCACAATTTCAAGGAAGAGAAAGCCA GTGTGACCAGAGGTCAAAAGATGAGAATGTTGGCCGGGTACGGTGGCTCA TGCCTGTCATCCCACTATTTTGGGAGGCCGAGGCAGACAGATCACCTGAG GTCAAGAGTTTGAGACCAGCCTGGCTAACATGGTGAAACACCGTCTCTAC TAAAAATACAAAAGAATTTGCTGGGCGTGGTGGTGCGTGCCTGTAATCCC AGCTAC	COX6A1	ENSG00000111775.3	transcript	ENST00000229379.3	protein_coding		828		chr12	TogoVar
COX6A1_chr12_120433113_120445730	120437284	T T	TTCAGGAG others(785): Show TTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCGGGAGGCGGAGATTG CAGTGAGCTGAGATCGCGCCACTGCACTCCTCCAGCCTGGCAACAGAGCA AGATTCCGTTTCAAAAAAAAAAAAAAAAAAGTTTACTGTCATTTTATGTT ATATACTTTTTTTTTAAAGTTTTATTTTTAAAGCTGCTTTTAGACAAGTC GAAGGAAGAAAGAAGGGGATAAGGAGGAAAGAATTTTGTAGACAAAATTT AACAGAGGTCAATTTTTTTTTTTTTTTTTTGTCTCCCAGGCTGGAGTGCA GTGGCATGATCTCAGCTCACTGCAACTTGCCCTCCCAGGTTCAAGCGATT CCTGTGCCTCAGCCACCCGGGTAGCTGGGATTACAGGTGTGCGCCACCAT GCCCAGGTAATTTTTGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGG CCAGGCGGGTCTCGAACTTCTGACGTCAAGTGATCAGCCAGTCTCGGCAT CCCAAAGTGCTGGGATTACAGGCGTGAACCACCACTCCCGGCCAGATGTC AATTTTTGTTTCCACAATTTCAAGGAAGAGAAAGCCAGTGTGACCAGAGG TCAAAAGATGAGAATGTTGGCCGGGTGCGGTGGCTCATGCCTGTCATCCC ACTATTTTGGGAGGCCGAGGCAGACAGATCACCTGAGGTCAAGAGTTTGA GACCAGCCTGGCTAACATGGTGAAACACCGTCTCTACTAAAAATACAAAA GAATTTGCTGGGCGTGGTGGTGCGTGCCTGTAATCCCAGCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	426	0.0024	792	c.-84 others(801): Show c.-843_-842insTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCGG GAGGCGGAGATTGCAGTGAGCTGAGATCGCGCCACTGCACTCCTCCAGCC TGGCAACAGAGCAAGATTCCGTTTCAAAAAAAAAAAAAAAAAAGTTTACT GTCATTTTATGTTATATACTTTTTTTTTAAAGTTTTATTTTTAAAGCTGC TTTTAGACAAGTCGAAGGAAGAAAGAAGGGGATAAGGAGGAAAGAATTTT GTAGACAAAATTTAACAGAGGTCAATTTTTTTTTTTTTTTTTTGTCTCCC AGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACTTGCCCTCCCA GGTTCAAGCGATTCCTGTGCCTCAGCCACCCGGGTAGCTGGGATTACAGG TGTGCGCCACCATGCCCAGGTAATTTTTGTATTTTTAGTAGAGTTGGGGT TTCACCATGTTGGCCAGGCGGGTCTCGAACTTCTGACGTCAAGTGATCAG CCAGTCTCGGCATCCCAAAGTGCTGGGATTACAGGCGTGAACCACCACTC CCGGCCAGATGTCAATTTTTGTTTCCACAATTTCAAGGAAGAGAAAGCCA GTGTGACCAGAGGTCAAAAGATGAGAATGTTGGCCGGGTGCGGTGGCTCA TGCCTGTCATCCCACTATTTTGGGAGGCCGAGGCAGACAGATCACCTGAG GTCAAGAGTTTGAGACCAGCCTGGCTAACATGGTGAAACACCGTCTCTAC TAAAAATACAAAAGAATTTGCTGGGCGTGGTGGTGCGTGCCTGTAATCCC AGCTAC	COX6A1	ENSG00000111775.3	transcript	ENST00000229379.3	protein_coding		828		chr12	TogoVar
COX6A1_chr12_120433113_120445730	120437284	T T	TTCAGGAG others(785): Show TTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCGGGAGGCGGAGATTG CAGTGAGCTGAGATCGCGCCACTGCACTCCTCCAGCCTGGCAACAGAGCA AGATTCCGTTTCAAAAAAAAAAAAAAAAAAGTTTACTGTCATTTTATGTT ATATACTTTTTTTTTAAAGTTTTATTTTTAAAGCTGCTTTTAGACAAGTC GAAGGAAGAAAGAAGGGGATAAGGAGGAAAGAATTTTGTAGACAAAATTT AACAGAGGTCAATTTTTTTTTTTTTTTTTTGTCTCCCAGGCTGGAGTGCA GTGGCATGATCTCAGCTCACTGCAACTTGCCCTCCCAGGTTCAAGCGATT CCTGTGCCTCAGCCACCCGGGTAGCTGGGATTACAGGTGTGCGCCACCAT GCCCAGGTAATTTTTGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGG CCAGGCGGGTCTCGAACTTCTGACGTCAAGTGATCAGCCAGTCTCGGCAT CCCAAAGTGCTGGGATTACAGGCGTGAACCACCACTCCCGGCCAGATGTC AATTTTTGTTTCCACAATTTCAAGGAAGAGAAAGCTAGTGTGACCAGAGG TCAAAAGATGAGAATGTTGGCCGGGTACGGTGGCTCATGCCTGTCATCCC ACTATTTTGGGAGGCCGAGGCAGACAGATCACCTGAGGTCAAGAGTTTGA GACCAGCCTGGCTAACATGGTGAAACACCGTCTCTACTAAAAATACAAAA GAATTTGCTGGGCGTGGTGGTGCGTGCCTGTAATCCCAGCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	426	0.0024	792	c.-84 others(801): Show c.-843_-842insTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCGG GAGGCGGAGATTGCAGTGAGCTGAGATCGCGCCACTGCACTCCTCCAGCC TGGCAACAGAGCAAGATTCCGTTTCAAAAAAAAAAAAAAAAAAGTTTACT GTCATTTTATGTTATATACTTTTTTTTTAAAGTTTTATTTTTAAAGCTGC TTTTAGACAAGTCGAAGGAAGAAAGAAGGGGATAAGGAGGAAAGAATTTT GTAGACAAAATTTAACAGAGGTCAATTTTTTTTTTTTTTTTTTGTCTCCC AGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACTTGCCCTCCCA GGTTCAAGCGATTCCTGTGCCTCAGCCACCCGGGTAGCTGGGATTACAGG TGTGCGCCACCATGCCCAGGTAATTTTTGTATTTTTAGTAGAGTTGGGGT TTCACCATGTTGGCCAGGCGGGTCTCGAACTTCTGACGTCAAGTGATCAG CCAGTCTCGGCATCCCAAAGTGCTGGGATTACAGGCGTGAACCACCACTC CCGGCCAGATGTCAATTTTTGTTTCCACAATTTCAAGGAAGAGAAAGCTA GTGTGACCAGAGGTCAAAAGATGAGAATGTTGGCCGGGTACGGTGGCTCA TGCCTGTCATCCCACTATTTTGGGAGGCCGAGGCAGACAGATCACCTGAG GTCAAGAGTTTGAGACCAGCCTGGCTAACATGGTGAAACACCGTCTCTAC TAAAAATACAAAAGAATTTGCTGGGCGTGGTGGTGCGTGCCTGTAATCCC AGCTAC	COX6A1	ENSG00000111775.3	transcript	ENST00000229379.3	protein_coding		828		chr12	TogoVar
COX6A1_chr12_120433113_120445730	120437284	T T	TTCAGGAG others(785): Show TTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCGGGAGGCGGAGATTG CAGTGAGCTGAGATCGCGCCACTGCACTCCTCCAGCCTGGCAACAGAGCA AGATTCCGTTTCAAAAAAAAAAAAAAAAAAGTTTACTGTCATTTTATGTT ATATACTTTTTTTTTAAAGTTTTATTTTTAAAGCTGCTTTTAGACAAGTC GAAGGAAGAAAGAAGGGGATAAGGAGGAAAGAATTTTGTAGACAAAATTT AACAGAGGTCAATTTTTTTTTTTTTTTTTTTGTCTCCCAGGCTGGAGTGC AGTGGCATGATCTCAGCTCACTGCAACTTGCCCTCCCAGGTTCAAGCGAT TCCTGTGCCTCAGCCACCGGGTAGCTGGGATTACAGGTGTGCGCCACCAT GCCCAGGTAATTTTTGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGG CCAGGCGGGTCTCGAACTTCTGACGTCAAGTGATCAGCCAGTCTCGGCAT CCCAAAGTGCTGGGATTACAGGCGTGAACCACCACTCCCGGCCAGATGTC AATTTTTGTTTCCACAATTTCAAGGAAGAGAAAGCCAGTGTGACCAGAGG TCAAAAGATGAGAATGTTGGCCGGGTACGGTGGCTCATGCCTGTCATCCC ACTATTTTGGGAGGCCGAGGCAGACAGATCACCTGAGGTCAAGAGTTTGA GACCAGCCTGGCTAACATGGTGAAACACCGTCTCTACTAAAAATACAAAA GAATTTGCTGGGCGTGGTGGTGCGTGCCTGTAATCCCAGCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG03130.hp2 HG03486.hp1 HG02486.hp1 HG03130.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0033 a0001c0001t0001g0046 a0001c0001t0001g0001 a0001c0001t0001g0033 a0001c0001t0001g0046	3	426	0.0070	792	c.-84 others(801): Show c.-843_-842insTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCGG GAGGCGGAGATTGCAGTGAGCTGAGATCGCGCCACTGCACTCCTCCAGCC TGGCAACAGAGCAAGATTCCGTTTCAAAAAAAAAAAAAAAAAAGTTTACT GTCATTTTATGTTATATACTTTTTTTTTAAAGTTTTATTTTTAAAGCTGC TTTTAGACAAGTCGAAGGAAGAAAGAAGGGGATAAGGAGGAAAGAATTTT GTAGACAAAATTTAACAGAGGTCAATTTTTTTTTTTTTTTTTTTGTCTCC CAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACTTGCCCTCCC AGGTTCAAGCGATTCCTGTGCCTCAGCCACCGGGTAGCTGGGATTACAGG TGTGCGCCACCATGCCCAGGTAATTTTTGTATTTTTAGTAGAGTTGGGGT TTCACCATGTTGGCCAGGCGGGTCTCGAACTTCTGACGTCAAGTGATCAG CCAGTCTCGGCATCCCAAAGTGCTGGGATTACAGGCGTGAACCACCACTC CCGGCCAGATGTCAATTTTTGTTTCCACAATTTCAAGGAAGAGAAAGCCA GTGTGACCAGAGGTCAAAAGATGAGAATGTTGGCCGGGTACGGTGGCTCA TGCCTGTCATCCCACTATTTTGGGAGGCCGAGGCAGACAGATCACCTGAG GTCAAGAGTTTGAGACCAGCCTGGCTAACATGGTGAAACACCGTCTCTAC TAAAAATACAAAAGAATTTGCTGGGCGTGGTGGTGCGTGCCTGTAATCCC AGCTAC	COX6A1	ENSG00000111775.3	transcript	ENST00000229379.3	protein_coding		828		chr12	TogoVar
COX6A1_chr12_120433113_120445730	120437284	T T	TTCAGGAG others(785): Show TTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCGGGAGGCGGAGATTG CAGTGAGCTGAGATCGCGCCACTGCACTCCTCCAGCCTGGCAACAGAGCA AGATTCCGTTTCAAAAAAAAAAAAAAAAAGTTTACTGTCATTTTATGTTA TATACTTTTTTTTTAAAGTTTTATTTTTAAAGCTGCTTTTAGACAAGTCG AAGGAAGAAAGAAGGGGATAAGGAGGAAAGAATTTTGTAGACAAAATTTA ACAGAGGTCAATTTTTTTTTTTTTTTTTTTGTCTCCCAGGCTGGAGTGCA GTGGCATGATCTCAGCTCACTGCAACTTGCCCTCCCAGGTTCAAGCGATT CCTGTGCCTCAGCCACCCGGGTAGCTGGGATTACAGGTGTGCGCCACCAT GCCCAGGTAATTTTTGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGG CCAGGCGGGTCTCGAACTTCTGACGTCAAGTGATCAGCCAGTCTCGGCAT CCCAAAGTGCTGGGATTACAGGCGTGAACCACCACTCCCGGCCAGATGTC AATTTTTGTTTCCACAATTTCAAGGAAGAGAAAGCCAGTGTGACCAGAGG TCAAAAGATGAGAATGTTGGCCGGGTACGGTGGCTCATGCCTGTCATCCC ACTATTTTGGGAGGCCGAGGCAGACAGATCACCTGAGGTCAAGAGTTTGA GACCAGCCTGGCTAACATGGTGAAACACCGTCTCTACTAAAAATACAAAA GAATTTGCTGGGCGTGGTGGTGCGTGCCTGTAATCCCAGCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	426	0.0024	792	c.-84 others(801): Show c.-843_-842insTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCGG GAGGCGGAGATTGCAGTGAGCTGAGATCGCGCCACTGCACTCCTCCAGCC TGGCAACAGAGCAAGATTCCGTTTCAAAAAAAAAAAAAAAAAGTTTACTG TCATTTTATGTTATATACTTTTTTTTTAAAGTTTTATTTTTAAAGCTGCT TTTAGACAAGTCGAAGGAAGAAAGAAGGGGATAAGGAGGAAAGAATTTTG TAGACAAAATTTAACAGAGGTCAATTTTTTTTTTTTTTTTTTTGTCTCCC AGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACTTGCCCTCCCA GGTTCAAGCGATTCCTGTGCCTCAGCCACCCGGGTAGCTGGGATTACAGG TGTGCGCCACCATGCCCAGGTAATTTTTGTATTTTTAGTAGAGTTGGGGT TTCACCATGTTGGCCAGGCGGGTCTCGAACTTCTGACGTCAAGTGATCAG CCAGTCTCGGCATCCCAAAGTGCTGGGATTACAGGCGTGAACCACCACTC CCGGCCAGATGTCAATTTTTGTTTCCACAATTTCAAGGAAGAGAAAGCCA GTGTGACCAGAGGTCAAAAGATGAGAATGTTGGCCGGGTACGGTGGCTCA TGCCTGTCATCCCACTATTTTGGGAGGCCGAGGCAGACAGATCACCTGAG GTCAAGAGTTTGAGACCAGCCTGGCTAACATGGTGAAACACCGTCTCTAC TAAAAATACAAAAGAATTTGCTGGGCGTGGTGGTGCGTGCCTGTAATCCC AGCTAC	COX6A1	ENSG00000111775.3	transcript	ENST00000229379.3	protein_coding		828		chr12	TogoVar
CPNE7_chr16_89570758_89602246	89587845	G G	GCCCCCCG others(785): Show GCCCCCCGTGTTACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTC ACCCACAGATACACGGCCCCCCGTGTTACCCGCGTGTCACCCACAGATAC ACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTG TTACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATA CACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCG TGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTG TCACCCACAGATACACGGCCCCCCGTGTTACCCACAGATACACGGCCCCC GTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCGCG TGTCACCCACAGATACACGGCCCCCCGTGTTACCCACAGATACACGGCCC CCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCG CGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCAC AGATACACGGCCCCCCGTGTTACCCGCGTGTCACCCACAGAAACACGGCC CCCCGTGTTACCCACAGATACACGGCCCCCCGTGTTACCCGCGTGTCACC CACAGAAACACGGCCCCCGTGTTACCCACAGATACACGGCCCCCCGTGTT ACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCACAGATAC ACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGC	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0124 a0002c0003t0003g0124	1	348	0.0029	792	c.927 others(807): Show c.927+748_927+749insCGTGTTACCCACAGATACACGGCCCCCCGT GTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCGCGTG TCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATA CACGGCCCCCCGTGTTACCCACAGATACACGGCCCCCGTGTCACCCGCGT GTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGA TACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCC GTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCACA GATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCC CCGTGTTACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCA CAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGC CCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACC CGCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCGCGTGTCACCC ACAGAAACACGGCCCCCCGTGTTACCCACAGATACACGGCCCCCCGTGTT ACCCGCGTGTCACCCACAGAAACACGGCCCCCGTGTTACCCACAGATACA CGGCCCCCCGTGTTACCCGCGTGTCACCCACAGATACACGGCCCCCCGTG TTACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGAT ACACGGCCCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CSMD1_chr8_2930361_4999914	4258514	G G	GGAGGGAG others(785): Show GGAGGGAGGGAGGGAGGGAGGGGAGGATGGAAGGAGGGAGGGAGGGAGGG AGGGGAGGATGGAAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAG GGGAGGATGGAAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAGGG GAGGATGGAAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAGGGGA GGACGGAAGGAGGGAAGGAGGGAGGCGAGGCTAGAAGGAGGGAGGGATGG AGGGAGGGATGGAAGGATGGAGGGAGGAAAGAATGGAGGGAGGGAGGGAA GAATGGAGGGAGGGAGGGAGGGAAGAATGGAGGAAGGGAGGGAGGGAGGG AAGAATGGAGGAAGGGAGGGATGGAGGGAAGAATGGAGGGAGGGAGGGAG GGAGGGAAGAATGGAGGGAGGGAGGGAAGGAAGAATGGAGGGAGGTAAGA ATGGAGGGAGGGAGGGAAGAATGCAGGGAGGGAGGGAGGGAAGAATGCAG AGAGGGAGGGAAGAATGGAAGAATGGAGGGAGGGAAGAATGGAGGGAGGG AAGAGTGGAAGAATGGAGAGAGGGAAGAGTGGAAGAATGGAGGGAGGGAA GAGTGGAAAAATGGAGGGAGCGAGTGAGGGAGGGAAGAATGGAAGAATGG AAGAATGGAGGGAGGGAAGAATGCAAGACTGGAGGGAGGGAAGAATGCAA GACTGGAGGGAGGGAAGAATGGAAGAATGGACGGAAGGAAGAGTGGAAGA ATGGAGGGAGGGAGGGAGGGAGGGAGGCAGGGAAGAGTGGAAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00423.hp2 others(31): Show HG00099.hp1 HG00099.hp2 HG00423.hp2 HG00735.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01123.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01934.hp1 HG02074.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02683.hp1 HG02886.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03579.hp1 HG03669.hp1 HG03834.hp1 HG03834.hp2 HG04204.hp2 HG04228.hp2 NA18971.hp2 NA18982.hp1 NA18984.hp1	a0001 a0002 a0004 others(8): Show a0001 a0002 a0004 a0005 a0006 a0016 a0019 a0023 a0028 a0032 a0037	a0001c0001 a0001c0003 a0001c0005 others(30): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0017 a0001c0020 a0001c0021 a0001c0033 a0001c0040 a0001c0047 a0001c0049 a0001c0059 a0001c0073 a0001c0108 a0002c0012 a0002c0031 a0002c0041 a0002c0051 a0002c0053 a0002c0078 a0002c0089 a0002c0091 a0004c0056 a0004c0086 a0004c0087 a0005c0107 a0006c0116 a0016c0063 a0019c0018 a0023c0095 a0028c0097 a0032c0011 a0037c0101	a0001c0001t0002 a0001c0003t0008 a0001c0003t0019 others(31): Show a0001c0001t0002 a0001c0003t0008 a0001c0003t0019 a0001c0005t0007 a0001c0006t0002 a0001c0017t0005 a0001c0020t0016 a0001c0021t0005 a0001c0033t0003 a0001c0040t0019 a0001c0047t0014 a0001c0049t0002 a0001c0059t0001 a0001c0073t0007 a0001c0108t0054 a0002c0012t0017 a0002c0031t0015 a0002c0041t0027 a0002c0051t0006 a0002c0053t0022 a0002c0078t0044 a0002c0089t0001 a0002c0091t0002 a0004c0056t0062 a0004c0086t0002 a0004c0087t0001 a0005c0107t0068 a0006c0116t0004 a0016c0063t0010 a0019c0018t0058 a0023c0095t0002 a0028c0097t0018 a0032c0011t0065 a0037c0101t0008	a0001c0001t0002g0102 a0001c0003t0008g0053 a0001c0003t0019g0107 others(31): Show a0001c0001t0002g0102 a0001c0003t0008g0053 a0001c0003t0019g0107 a0001c0005t0007g0070 a0001c0006t0002g0109 a0001c0017t0005g0003 a0001c0020t0016g0065 a0001c0021t0005g0012 a0001c0033t0003g0059 a0001c0040t0019g0123 a0001c0047t0014g0024 a0001c0049t0002g0071 a0001c0059t0001g0036 a0001c0073t0007g0108 a0001c0108t0054g0074 a0002c0012t0017g0088 a0002c0031t0015g0001 a0002c0041t0027g0018 a0002c0051t0006g0081 a0002c0053t0022g0041 a0002c0078t0044g0064 a0002c0089t0001g0037 a0002c0091t0002g0114 a0004c0056t0062g0072 a0004c0086t0002g0118 a0004c0087t0001g0022 a0005c0107t0068g0073 a0006c0116t0004g0039 a0016c0063t0010g0045 a0019c0018t0058g0068 a0023c0095t0002g0124 a0028c0097t0018g0089 a0032c0011t0065g0101 a0037c0101t0008g0023	34	126	0.2698	792	c.415 others(813): Show c.415+161438_415+161439insGTTCCACTCTTCCCTGCCTCCCTC CCTCCCTCCCTCCCTCCATTCTTCCACTCTTCCTTCCGTCCATTCTTCCA TTCTTCCCTCCCTCCAGTCTTGCATTCTTCCCTCCCTCCAGTCTTGCATT CTTCCCTCCCTCCATTCTTCCATTCTTCCATTCTTCCCTCCCTCACTCGC TCCCTCCATTTTTCCACTCTTCCCTCCCTCCATTCTTCCACTCTTCCCTC TCTCCATTCTTCCACTCTTCCCTCCCTCCATTCTTCCCTCCCTCCATTCT TCCATTCTTCCCTCCCTCTCTGCATTCTTCCCTCCCTCCCTCCCTGCATT CTTCCCTCCCTCCCTCCATTCTTACCTCCCTCCATTCTTCCTTCCCTCCC TCCCTCCATTCTTCCCTCCCTCCCTCCCTCCCTCCATTCTTCCCTCCATC CCTCCCTTCCTCCATTCTTCCCTCCCTCCCTCCCTTCCTCCATTCTTCCC TCCCTCCCTCCCTCCATTCTTCCCTCCCTCCCTCCATTCTTTCCTCCCTC CATCCTTCCATCCCTCCCTCCATCCCTCCCTCCTTCTAGCCTCGCCTCCC TCCTTCCCTCCTTCCGTCCTCCCCTCCCTCCCTCCCTCTGTCCTCCCCTC CCTCCCTCCTTCCATCCTCCCCTCCCTCCCTCCCTCTGTCCTCCCCTCCC TCCCTCCTTCCATCCTCCCCTCCCTCCCTCCCTCTGTCCTCCCCTCCCTC CCTCCTTCCATCCTCCCCTCCCTCCCTCCCTCCCTCCTTCCATCCTCCCC TCCCTCCCTCCCTCCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4258514	G G	GGAGGGAT others(785): Show GGAGGGATGGAAGGAGGGAGGGAGGGAGGGGAGGATGGAAGGAGGGAGGG AGGGAGGGAGGGGAGGATGGAAGGAGGGAGGGAGGGAGGGAGGGGAGGAT GGAAGGAGGGAGGGAGGGGAGGACAGAGGGAGGCAGGGAGGGGAGGATGG AAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAGGGGAGGATGGAA GGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAGGGGAGGACGGAAGG AGGGAAGGAGGGAGGCGAGGCTAGAAGGAGGGAGGGATGGAGGGAGGGAT GGAAGGATGGAGGGAGGAAAGAATGGAGGGAGGGACGGAAGAATGGAGGG AGGGAGGGAGGGAGGGAAGAATGGAGGGAGGGAGGGAAGGAAGAATGGAG GGAGGGAGGGAAGGAAGAATGGAGGGAGGTAAGAATGGAGGGAGGGAGGG AAGAATGCAGGGAGGGAGGGAGGGAAGAATGCAGAGAGGGAGGGAGGGAA GAATGCAGAGAGGGAGGGAAGAATGGAAGAATGGAGGGAGGGAAGAATGG AGGGAGGGAAGAGTGGAAGAATGGAGAGAGGGAAGAGTGGAAGAATGGAG GGAGGGAAGAGTGGAAAAATGGAGGGAGCGAGTGAGGGAGGAAAGAATGG AAGAATGGAGGGAGGGAAGAATGCAAGACTGGAGGGAGGGAAGAATGCAA GACTGGAGGGAGGGAAGAATGGAAGAATGGACGGAAGGAAGAGTGGAAGA ATGGAGGGAGGGAGGGAGGGAGGCAGGCAGGGAAGAGTGGAAC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0037 a0002c0037	a0002c0037t0009 a0002c0037t0009	a0002c0037t0009g0046 a0002c0037t0009g0046	1	126	0.0079	792	c.415 others(813): Show c.415+161438_415+161439insGTTCCACTCTTCCCTGCCTGCCTC CCTCCCTCCCTCCCTCCATTCTTCCACTCTTCCTTCCGTCCATTCTTCCA TTCTTCCCTCCCTCCAGTCTTGCATTCTTCCCTCCCTCCAGTCTTGCATT CTTCCCTCCCTCCATTCTTCCATTCTTTCCTCCCTCACTCGCTCCCTCCA TTTTTCCACTCTTCCCTCCCTCCATTCTTCCACTCTTCCCTCTCTCCATT CTTCCACTCTTCCCTCCCTCCATTCTTCCCTCCCTCCATTCTTCCATTCT TCCCTCCCTCTCTGCATTCTTCCCTCCCTCCCTCTCTGCATTCTTCCCTC CCTCCCTCCCTGCATTCTTCCCTCCCTCCCTCCATTCTTACCTCCCTCCA TTCTTCCTTCCCTCCCTCCCTCCATTCTTCCTTCCCTCCCTCCCTCCATT CTTCCCTCCCTCCCTCCCTCCCTCCATTCTTCCGTCCCTCCCTCCATTCT TTCCTCCCTCCATCCTTCCATCCCTCCCTCCATCCCTCCCTCCTTCTAGC CTCGCCTCCCTCCTTCCCTCCTTCCGTCCTCCCCTCCCTCCCTCCCTCTG TCCTCCCCTCCCTCCCTCCTTCCATCCTCCCCTCCCTCCCTCCCTCTGTC CTCCCCTCCCTCCCTCCTTCCATCCTCCCCTCCCTGCCTCCCTCTGTCCT CCCCTCCCTCCCTCCTTCCATCCTCCCCTCCCTCCCTCCCTCCCTCCTTC CATCCTCCCCTCCCTCCCTCCCTCCCTCCTTCCATCCTCCCCTCCCTCCC TCCCTCCTTCCATCCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4258514	G G	GGAGGGAT others(785): Show GGAGGGATGGAAGGAGGGAGGGAGGGAGGGGAGGATGGAAGGAGGGAGGG AGGGAGGGAGGGGAGGATGGAAGGAGGGAGGGAGGGAGGGAGGGGAGGAT GGAAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAGGGGAGGATGG AAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAGGGGAGGATGGAA GGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAGGGGAGGACGGAAGG AGGGAAGGAGGGAGGCGAGGCTAGAAGGAGGGAGGGATGGAGGGAGGGAT GGAAGGATGGAGGGAGGAAAGAATGGAGGGAGGGACGGAAGAATGGAGGG AGGGAGGGAGGGAGGGAAGAATGGAGGGAGGGAGGGAAGGAAGAATGGAG GGAGGGAGGGAAGGAAGAATGGAGGGAGGTAAGAATGGAGGGAGGGAGGG AAGAATGCAGGGAGGGAGGGAGGGAAGAATGCAGAGAGGGAGGGAGGGAA GAATGCAGAGAGGGAGGGAAGAATGGAAGAATGGAGGGAGGGAAGAATGG AGGGAGGGAAGAGTGGAAGAATGGAGAGAGGGAAGAGTGGAAGAATGGAG GGAGGGAAGAGTGGAAAAATGGAGGGAGCGAGTGAGGGAGGAAAGAATGG AAGAATGGAGGGAGGGAAGAATGCAAGACTGGAGGGAGGGAAGAATGCAA GACTGGAGGGAGGGAAGAATGGAAGAATGGACGGAAGGAAGAGTGGAAGA ATGGAGGGAGGGAGGGAGGGAGGCAGGCAAGGAAGAGTGGAAC	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp2 NA19090.hp1 NA18995.hp1 NA18995.hp2 NA19090.hp1	a0001 a0039 a0001 a0039	a0001c0102 a0001c0109 a0039c0009 a0001c0102 a0001c0109 a0039c0009	a0001c0102t0005 a0001c0109t0038 a0039c0009t0001 a0001c0102t0005 a0001c0109t0038 a0039c0009t0001	a0001c0102t0005g0034 a0001c0109t0038g0013 a0039c0009t0001g0002 a0001c0102t0005g0034 a0001c0109t0038g0013 a0039c0009t0001g0002	3	126	0.0238	792	c.415 others(813): Show c.415+161438_415+161439insGTTCCACTCTTCCTTGCCTGCCTC CCTCCCTCCCTCCCTCCATTCTTCCACTCTTCCTTCCGTCCATTCTTCCA TTCTTCCCTCCCTCCAGTCTTGCATTCTTCCCTCCCTCCAGTCTTGCATT CTTCCCTCCCTCCATTCTTCCATTCTTTCCTCCCTCACTCGCTCCCTCCA TTTTTCCACTCTTCCCTCCCTCCATTCTTCCACTCTTCCCTCTCTCCATT CTTCCACTCTTCCCTCCCTCCATTCTTCCCTCCCTCCATTCTTCCATTCT TCCCTCCCTCTCTGCATTCTTCCCTCCCTCCCTCTCTGCATTCTTCCCTC CCTCCCTCCCTGCATTCTTCCCTCCCTCCCTCCATTCTTACCTCCCTCCA TTCTTCCTTCCCTCCCTCCCTCCATTCTTCCTTCCCTCCCTCCCTCCATT CTTCCCTCCCTCCCTCCCTCCCTCCATTCTTCCGTCCCTCCCTCCATTCT TTCCTCCCTCCATCCTTCCATCCCTCCCTCCATCCCTCCCTCCTTCTAGC CTCGCCTCCCTCCTTCCCTCCTTCCGTCCTCCCCTCCCTCCCTCCCTCTG TCCTCCCCTCCCTCCCTCCTTCCATCCTCCCCTCCCTCCCTCCCTCTGTC CTCCCCTCCCTCCCTCCTTCCATCCTCCCCTCCCTCCCTCCCTCTGTCCT CCCCTCCCTCCCTCCTTCCATCCTCCCCTCCCTCCCTCCCTCCCTCCTTC CATCCTCCCCTCCCTCCCTCCCTCCCTCCTTCCATCCTCCCCTCCCTCCC TCCCTCCTTCCATCCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4258514	G G	GGAGGGAT others(785): Show GGAGGGATGGAAGGAGGGAGGGAGGGAGGGGAGGATGGAAGGAGGGAGGG AGGGAGGGAGGGGAGGATGGAAGGAGGGAGGGAGGGAGGGAGGGGAGGAT GGAAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAGGGGAGGATGG AAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAGGGGAGGATGGAA GGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAGGGGAGGACGGAAGG AGGGAAGGAGGGAGGCGAGGCTAGAAGGAGGGAGGGATGGAGGGAGGGAT GGAAGGATGGAGGGAGGAAAGAATGGAGGGAGGGACGGAAGAATGGAGGG AGGGAGGGAGGGAGGGAAGAATGGAGGGAGGGAGGGAAGGAAGAATGGAG GGAGGGAGGGAAGGAAGAATGGAGGGAGGTAAGAATGGAGGGAGGGAGGG AAGAATGCAGGGAGGGAGGGAGGGAAGAATGCAGAGAGGGAGGGAGGGAA GAATGCAGAGAGGGAGGGAAGAATGGAAGAATGGAGGGAGGGAAGAATGG AGGGAGGGAAGAGTGGAAGAATGGAGAGAGGGAAGAGTGGAAGAATGGAG GGAGGGAAGAGTGGAAAAATGGAGGGAGCGAGTGAGGGAGGAAAGAATGG AAGAATGGAGGGAGGGAAGAATGCAAGACTGGAGGGAGGGAAGAATGCAA GACTGGAGGGAGGGAAGAATGGAAGAATGGACGGAAGGAAGAGTGGAAGA ATGGAGGGAGGGAGGGAGGGAGGCAGGCAGGGAAGAGTGGAAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG01243.hp2 others(23): Show HG00438.hp1 HG00438.hp2 HG01243.hp2 HG01934.hp2 HG02055.hp1 HG02056.hp1 HG02074.hp1 HG02129.hp1 HG02280.hp2 HG02486.hp2 HG02615.hp1 HG02647.hp2 HG02723.hp2 HG02965.hp1 HG03017.hp1 HG03516.hp1 HG03579.hp2 HG06807.hp1 NA18906.hp2 NA18971.hp1 NA18982.hp2 NA19060.hp1 NA19060.hp2 NA19074.hp2 NA19090.hp2 NA19240.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0020 a0026 a0030 a0035	a0001c0002 a0001c0005 a0001c0007 others(22): Show a0001c0002 a0001c0005 a0001c0007 a0001c0045 a0001c0079 a0001c0081 a0001c0090 a0001c0094 a0001c0103 a0002c0035 a0002c0048 a0002c0070 a0002c0077 a0002c0084 a0002c0092 a0003c0014 a0003c0034 a0004c0099 a0005c0065 a0006c0083 a0008c0067 a0020c0024 a0026c0082 a0030c0052 a0035c0098	a0001c0002t0002 a0001c0002t0061 a0001c0005t0002 others(23): Show a0001c0002t0002 a0001c0002t0061 a0001c0005t0002 a0001c0007t0001 a0001c0045t0012 a0001c0079t0072 a0001c0081t0037 a0001c0090t0001 a0001c0094t0002 a0001c0103t0033 a0002c0035t0047 a0002c0048t0013 a0002c0070t0046 a0002c0077t0001 a0002c0084t0018 a0002c0092t0001 a0003c0014t0055 a0003c0034t0030 a0004c0099t0014 a0005c0065t0023 a0006c0083t0004 a0008c0067t0059 a0020c0024t0077 a0026c0082t0052 a0030c0052t0049 a0035c0098t0025	a0001c0002t0002g0083 a0001c0002t0061g0069 a0001c0005t0002g0111 others(23): Show a0001c0002t0002g0083 a0001c0002t0061g0069 a0001c0005t0002g0111 a0001c0007t0001g0035 a0001c0045t0012g0010 a0001c0079t0072g0113 a0001c0081t0037g0030 a0001c0090t0001g0027 a0001c0094t0002g0110 a0001c0103t0033g0028 a0002c0035t0047g0076 a0002c0048t0013g0015 a0002c0070t0046g0092 a0002c0077t0001g0016 a0002c0084t0018g0087 a0002c0092t0001g0011 a0003c0014t0055g0056 a0003c0034t0030g0038 a0004c0099t0014g0020 a0005c0065t0023g0050 a0006c0083t0004g0006 a0008c0067t0059g0079 a0020c0024t0077g0104 a0026c0082t0052g0097 a0030c0052t0049g0098 a0035c0098t0025g0019	26	126	0.2064	792	c.415 others(813): Show c.415+161438_415+161439insGTTCCACTCTTCCCTGCCTGCCTC CCTCCCTCCCTCCCTCCATTCTTCCACTCTTCCTTCCGTCCATTCTTCCA TTCTTCCCTCCCTCCAGTCTTGCATTCTTCCCTCCCTCCAGTCTTGCATT CTTCCCTCCCTCCATTCTTCCATTCTTTCCTCCCTCACTCGCTCCCTCCA TTTTTCCACTCTTCCCTCCCTCCATTCTTCCACTCTTCCCTCTCTCCATT CTTCCACTCTTCCCTCCCTCCATTCTTCCCTCCCTCCATTCTTCCATTCT TCCCTCCCTCTCTGCATTCTTCCCTCCCTCCCTCTCTGCATTCTTCCCTC CCTCCCTCCCTGCATTCTTCCCTCCCTCCCTCCATTCTTACCTCCCTCCA TTCTTCCTTCCCTCCCTCCCTCCATTCTTCCTTCCCTCCCTCCCTCCATT CTTCCCTCCCTCCCTCCCTCCCTCCATTCTTCCGTCCCTCCCTCCATTCT TTCCTCCCTCCATCCTTCCATCCCTCCCTCCATCCCTCCCTCCTTCTAGC CTCGCCTCCCTCCTTCCCTCCTTCCGTCCTCCCCTCCCTCCCTCCCTCTG TCCTCCCCTCCCTCCCTCCTTCCATCCTCCCCTCCCTCCCTCCCTCTGTC CTCCCCTCCCTCCCTCCTTCCATCCTCCCCTCCCTCCCTCCCTCTGTCCT CCCCTCCCTCCCTCCTTCCATCCTCCCCTCCCTCCCTCCCTCCCTCCTTC CATCCTCCCCTCCCTCCCTCCCTCCCTCCTTCCATCCTCCCCTCCCTCCC TCCCTCCTTCCATCCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
DCDC2C_chr2_3698575_3853008	3725401	G G	GGCAGAGA others(785): Show GGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGGAGACGAGCAGA GAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGA GGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGC TGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAG GTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGAT CCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGA GGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGA CGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCGGAGGAAGACGAGCA GAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGG GAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAG GCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCC AGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGG ATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCG GAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAA GACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAG CAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0171 a0001c0005t0008g0171	1	324	0.0031	792	c.340 others(809): Show c.340-1594_340-1593insGGAGGAGGCTGCCCGGTGGATCCCGGAG GGAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGAC GAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAG AGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGG AGGAGGCTGCCAGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGG CTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCA GGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGA TCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCGG AGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAG ACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGC AGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAG GGAGGAGGCTGCCAGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGA GGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGC CAGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTG GATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCC AGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGA AGACGAGCAGAGAG	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar

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Search Results (Total: 8931 hits)