Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PARD3B_chr2_204540475_205625162	204705383	G G	GAGAGTGA others(552): Show GAGAGTGAGTGGTTGGAGGCAAAGGCATTTTAAATCAATCAGTTAAAGGA GGCTCTTCTAAGGAAGTGACATTTGAGAATAGCAGTGAATGAGGGTAATT GCTGCAGAGAACTGGAGCGAGGCATTATGTAGTAGTATTTATTAGAGCTG CCCAATTTTAATGTTTTTTGGACCAGAGACACTTAAATAAAAGGTTAAGC TGTTTGGGCACAAAAGAAGGAAGAAAAACTGCTCAGTGCTTGCAACACAT CAAATATAGTACAGGAAGGGTAGAATTAATTGAAAACTGTGCACCTACTT TCACTGACACTCAGCATCTTATTTTCAGTGATGAGCATGGCAGATGTAAT TCTTGGTTTATTTTCACTATGTTTAGTATTGGGAGCCGATTATGTGCTAG GGCACTGGTGATATGAGGGAAACGTGAAAGACAAGGGTCTCCCTTCATGA AGCCCATATTCTTGTGGGGAAAGGAGGCAGTAAGCAAAGCATCATTAATA ATATAGCAAGTAATGCTTGGTAATGGCTATAAAGACACACATAGTGGAGT AAAAGAACAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0007 a0007	a0007c0017 a0007c0017	a0007c0017t0012 a0007c0017t0012	a0007c0017t0012g0006 a0007c0017t0012g0006	1	54	0.0185	559	c.222 others(578): Show c.222+19195_222+19196insTAATTGCTGCAGAGAACTGGAGCGAG GCATTATGTAGTAGTATTTATTAGAGCTGCCCAATTTTAATGTTTTTTGG ACCAGAGACACTTAAATAAAAGGTTAAGCTGTTTGGGCACAAAAGAAGGA AGAAAAACTGCTCAGTGCTTGCAACACATCAAATATAGTACAGGAAGGGT AGAATTAATTGAAAACTGTGCACCTACTTTCACTGACACTCAGCATCTTA TTTTCAGTGATGAGCATGGCAGATGTAATTCTTGGTTTATTTTCACTATG TTTAGTATTGGGAGCCGATTATGTGCTAGGGCACTGGTGATATGAGGGAA ACGTGAAAGACAAGGGTCTCCCTTCATGAAGCCCATATTCTTGTGGGGAA AGGAGGCAGTAAGCAAAGCATCATTAATAATATAGCAAGTAATGCTTGGT AATGGCTATAAAGACACACATAGTGGAGTAAAAGAACAAAGAGTGAGTGG TTGGAGGCAAAGGCATTTTAAATCAATCAGTTAAAGGAGGCTCTTCTAAG GAAGTGACATTTGAGAATAGCAGTGAATGAGGG	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PGAM5_chr12_132705842_132727734	132718452	G G	GGTCCTGG others(552): Show GGTCCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCC TGGGTGGGGGGTCCTGAGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGT GGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGGGTCCTGGGTGGGGTG CGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCATGCTGGGTGGGGGTGTC CTGGGTGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTG GGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGG GGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCCTGGGTGGGGTGC GTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCCTGAGTGGGGTGCGTGCT GGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTG GGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGGGT CCTGAGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCATGCT GGGTGGGGGT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0187 a0001c0001t0043g0187	1	394	0.0025	559	c.719 others(574): Show c.719+345_719+346insGGTCCTGGGTGGGGTGCGTGCTGGGTGGGG GTGTCCTGGGTGGGGGGTCCTGAGTGGGGTGCGTGCTGGGTGGGGGTGTC CTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGGGTCCTGGGT GGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCATGCTGGGTGGG GGTGTCCTGGGTGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTGGGGTGC GTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCT GGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCCTGGGTG GGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCCTGAGTGGGGTG CGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCC TGGGTGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTG GGGGGTCCTGAGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTG CATGCTGGGTGGGGGTGTCCTGGGTGGGG	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
PPP6R2_chr22_50338327_50450090	50397832	A A	AGGGGGGC others(552): Show AGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGG AGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCAT CTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCT GTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTT GGGATGGGGGCGGGGGGGCTGTCCTCACCAGCCTTGTCATCTCTGAGTTT TTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCACCA GCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGG CGGGGGGCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGA GTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCTTGTCATC TCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCTGT CCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGG GATGGGGGCG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0281 a0001c0002t0016g0281	1	340	0.0029	559	c.227 others(576): Show c.227+3702_227+3703insGCCTGTCCTCACCAGCCCTGTCATCTCT GAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCC TCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGA TGGGGGCGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCT CTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCTGTCCTCACCAGCCT TGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGG GGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTG TGACTTGGGATGGGGGCGGGGGGCTGTCCTCACCAGCCTTGTCATCTCTG AGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCT CACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGAT GGGGGCGGGGGGCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCT GAGGAGTGTGACTTGGGATGGGGGCGGGGGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
RAB11FIP3_chr16_420649_528011	468269	A A	AGTCAGGG others(552): Show AGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAG GGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGA GGTGCAGGGAAGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGATGCT GGGACGTCAGGGAGGAGGTCCTTGGGCGTCAGGGAGGAGGTGCTGGGGCG TCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGG AGGAGGTGCTGGGGCGTCAGGGAGGAGGAGGTCCTGGGGCATCAGGGAGG AGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGC TGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGAGGTCCTGG GGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTC AGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAG GAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAG GTGCTGGGGC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02683.hp2 HG00099.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0193 a0001c0001t0010g0194 a0001c0001t0001g0193 a0001c0001t0010g0194	2	295	0.0068	559	c.809 others(576): Show c.809-2991_809-2990insTGCAGGGGCGTCAGGGAGGAGGTGCAGG GGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGAAGTC AGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGATGCTGGGACGTCAGGGAG GAGGTCCTTGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTG CTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGG CGTCAGGGAGGAGGAGGTCCTGGGGCATCAGGGAGGAGGTGCTGGGGCGT CAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGA GGAGGTGCAGGGGCGTCAGGGAGGAGGAGGTCCTGGGGCGTCAGGGAGGA GGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCT GGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGAGGTCCTGGG GCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCA GGGAGGAGGTGCAGGGGCGTCAGGGAGGAGG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	492486	C C	CTCCCCGG others(552): Show CTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGG CCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCG GGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCA GGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACC CGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCT CCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCC GCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGG AGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGG GCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCG AGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGTCCAGGGCCCTCC CCGGGAGACCCGAGGCCGTCCAGGGCCCTCCCCGGGAGACCCGAGGCCGT CCAGGGCCCT	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0098 a0002c0003t0005g0098	1	295	0.0034	559	c.126 others(578): Show c.1265+3490_1265+3491insCGGGAGACCCGAGGCCGCCCAGGGCC CTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGG CCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCG GGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCA GGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACC CGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCT CCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCC GCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGG AGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGG GCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCG AGGCCGTCCAGGGCCCTCCCCGGGAGACCCGAGGCCGTCCAGGGCCCTCC CCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAP1GAP2_chr17_2791438_3042741	2831059	C C	CTCCCCTC others(552): Show CTCCCCTCCCCTTCCTTCCTCTCCCCTCCCCTTCCCTCCCTTTCCCTCCC CTCCTTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCTTCCCCCCCTT CCCCTCCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCTCCCCTT CCTTCCCCTCCCCTCCTCCCCCCTCCCTCCCCTCTCCTTCCTTCCCCTCC CCTCCCCTTCCCTCCCTTTCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTC CCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCTCCCCTTTTCTCCC TTCCCCTCCCATCCCCTACACTTCCCTCCCCTCCCCTTCCCTACACTTCC GTCCCCTCCCCTTCCCTACACTTCCCTTCCCTCCCCTCCCCTCCCTTTCC CTCCTCTTCCCTCCCCTCCCTTCCCGTCCCCTTCCCTCCCTTCCCCTCCC CCCACCCTCCCTTCCCCTCCCTTCTTCTCTCCCCCTCCCCTCCCCTTCCC TCCCTTCCCCTCCCCTCCCCTCCCCTCCCTTTCCCTCCCCTCCCCTCCCC TCCCTTCCCA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0137 a0001c0009t0137	a0001c0009t0137g0016 a0001c0009t0137g0016	1	218	0.0046	559	c.80+ others(576): Show c.80+30515_80+30516insCCCCTTCCTTCCTCTCCCCTCCCCTTCC CTCCCTTTCCCTCCCCTCCTTCCCCTCCCCTTCCCTCCCTTCCCCTCCCC TCCCTTCCCCCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTCTCCCCT CCCTCCCCTCCCCTTCCTTCCCCTCCCCTCCTCCCCCCTCCCTCCCCTCT CCTTCCTTCCCCTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCCTTCC CCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCC CTCCCCTTTTCTCCCTTCCCCTCCCATCCCCTACACTTCCCTCCCCTCCC CTTCCCTACACTTCCGTCCCCTCCCCTTCCCTACACTTCCCTTCCCTCCC CTCCCCTCCCTTTCCCTCCTCTTCCCTCCCCTCCCTTCCCGTCCCCTTCC CTCCCTTCCCCTCCCCCCACCCTCCCTTCCCCTCCCTTCTTCTCTCCCCC TCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTCCCCTCCCTTTCCC TCCCCTCCCCTCCCCTCCCTTCCCATCCCCT	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPA3_chr7_7631518_7723607	7679098	C C	CATATATT others(552): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATAT TTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTAT ATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAATATATAT TTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATAT ATATTTATTTATTTAGTTTATAAATATATATTTATTTAGTTTATAAATAT ATATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATAC ATATTTACATATTTAGTTTATAAATATTTACATATTTAGTTTATAAATAC ATATTTACATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAA ATACATATTTATATATTTAGTTTATAAATATATATTTATATATTTAATTT ATAGATAAAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	308	0.0033	559	c.-75 others(578): Show c.-758+6731_-758+6732insATTTATCTATAAATTAAATATATAAA TATATATTTATAAACTAAATATATAAATATGTATTTATAAACTAAATATA TAAATATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAA TATGTAAATATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAA TAAATATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAA TAAATATATATTTATAAACTAAATAAATAAATATATATTTATAAACTAAA TATATAAATATATATTTATAAACTAAATATATAAATATATATTTATAAAC TAAATATATAAATATATGTTTATAAACTAAATATATAAATATATGTTTAT AAACTAAATATATAAATATATGTTTATAAACTAAATATATAAATATATGT TTATAAACTAAATATATAAATATATGTTTATAAACTAAATATATAAATAT ATGTTTATAAACTAAATATATAAATATATGTTTATAAACTAAATATATAA ATATATGTTTATAAACTAAATATATAAATATAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7679116	G G	GTTTATAA others(552): Show GTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATA TTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTA TATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATA TTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACA TATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTATA AATATATATTTATTTATTTAGTTTATAAATATATATTTATTTAGTTTATA AATATATATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATA AATACATATTTACATATTTAGTTTATAAATATTTACATATTTAGTTTATA AATACATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTATATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATATATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	308	0.0033	559	c.-75 others(578): Show c.-758+6713_-758+6714insTTAAATATATAAATATATATTTATCT ATAAATTAAATATATAAATATATATTTATAAACTAAATATATAAATATGT ATTTATAAACTAAATATATAAATATGTATTTATAAACTAAATATGTAAAT ATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATATGT AAATATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATAAAT ATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAAAT ATATATTTATAAACTAAATAAATAAATATATATTTATAAACTAAATATAT AAATATATGTTTATAAACTAAATATATAAATATATGTTTATAAACTAAAT ATATAAATATATGTTTATAAACTAAATATATAAATATATGTTTATAAACT AAATATATAAATATATGTTTATAAACTAAATATATAAATATATGTTTATA AACTAAATATATAAATATATGTTTATAAACTAAATATATAAATATATGTT TATAAACTAAATATATAAATATATGTTTATAAA	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7679116	G G	GTTTATAA others(552): Show GTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATA TTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTA TATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATA TTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAATA TATATTTACATATTTAGTTTATAAATATATATTTATATATTTAGTTTATA AATATATATTTACTTATTTAGTTTATAAATATATATTTATTTAGTTTATA AATATATATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATA AATACATATTTACATATTTAGTTTATAAATATTTACATATTTAGTTTATA AATACATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTATATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATATATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAA	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0091	1	308	0.0033	559	c.-75 others(578): Show c.-758+6713_-758+6714insTTAAATATATAAATATATATTTATCT ATAAATTAAATATATAAATATATATTTATAAACTAAATATATAAATATGT ATTTATAAACTAAATATATAAATATGTATTTATAAACTAAATATGTAAAT ATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATATGT AAATATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATAAAT ATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAAAT ATATATTTATAAACTAAATAAGTAAATATATATTTATAAACTAAATATAT AAATATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAAT ATATAAATATATGTTTATAAACTAAATATATAAATATATGTTTATAAACT AAATATATAAATATATGTTTATAAACTAAATATATAAATATATGTTTATA AACTAAATATATAAATATATGTTTATAAACTAAATATATAAATATATGTT TATAAACTAAATATATAAATATATGTTTATAAA	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7679116	G G	GTTTATAA others(552): Show GTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATA TTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTA TATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATA TTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAATA TATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATA AATATATATTTATTTATTTAGTTTATAAATATATATTTATTTAGTTTATA AATATATATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATA AATACATATTTACATATTTAGTTTATAAATATTTACATATTTAGTTTATA AATACATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTATATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATATATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 NA18968.hp1 NA19086.hp2 HG01175.hp1 NA18968.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 a0001c0001t0001 a0001c0001t0002 a0001c0001t0017	a0001c0001t0001g0066 a0001c0001t0002g0087 a0001c0001t0017g0090 a0001c0001t0001g0066 a0001c0001t0002g0087 a0001c0001t0017g0090	3	308	0.0097	559	c.-75 others(578): Show c.-758+6713_-758+6714insTTAAATATATAAATATATATTTATCT ATAAATTAAATATATAAATATATATTTATAAACTAAATATATAAATATGT ATTTATAAACTAAATATATAAATATGTATTTATAAACTAAATATGTAAAT ATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATATGT AAATATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATAAAT ATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAAAT ATATATTTATAAACTAAATAAATAAATATATATTTATAAACTAAATATAT AAATATATATTTATAAACTAAATATATAAATATATATTTATAAACTAAAT ATATAAATATATGTTTATAAACTAAATATATAAATATATGTTTATAAACT AAATATATAAATATATGTTTATAAACTAAATATATAAATATATGTTTATA AACTAAATATATAAATATATGTTTATAAACTAAATATATAAATATATGTT TATAAACTAAATATATAAATATATGTTTATAAA	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
SKI_chr1_2223319_2315213	2280735	G G	GGACGCCC others(552): Show GGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCC CGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAGG ACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCG GCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGG AGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTT CAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAG AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGACGC CCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAA GACAGGCGGTGGCGGAGATCTTCATAGAGAGGACGCCCGAGAAGACAGGC GGTGGCGGAGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCG GAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCT TCAGAGAGAC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0236 a0001c0001t0015g0236	1	330	0.0030	559	c.970 others(578): Show c.970-22243_970-22242insGACGCCCGAGAAGACAGGCGGCGGCG GCGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCT TCAGAGAGAGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGA GCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATG CCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGA AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGG CGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGC GGAGATCTTCATAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATC TTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCATAG AGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGCGGAC GCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAG AAGACAGGCGGTGGCGGAGATCTTCAGAGAGAC	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6			chr1	TogoVar
SLC22A18_chr11_2897278_2930246	2921552	A A	AAGCCTGT others(552): Show AAGCCTGTCCCACCGAGTCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTG TCCCACCGAGCCCATCCCAGGGAGCAGCCTGCGGCCGAGCCTGTCCCACC GAGTCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCA TCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGG GAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGC CTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGC CGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCT GTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCAC CGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCC ATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCG GGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAG CCTGCGGCCG	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0140 a0002c0002t0001g0140	1	405	0.0025	559	c.865 others(574): Show c.865-534_865-533insTCCATCCCCGGGAGCAGCCTGCGGCCGAGC CTGTCCCACCGAGCCCATCCCAGGGAGCAGCCTGCGGCCGAGCCTGTCCC ACCGAGTCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGC CCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCC CGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGC AGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGC GGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAG CCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCC CACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAG CCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCC CCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAG CAGCCTGCGGCCGAGCCTGTCCCACCGAG	SLC22A18	ENSG00000110628.16	transcript	ENST00000649076.2	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC45A1_chr1_8313114_8349165	8322414	G G	GGGTGGGT others(552): Show GGGTGGGTGGGTGAATGGATGGATGAGTGGGTGGATGGATGGGTGGATGA ATGGGTGGGTGGGTGCGTGGGTGGGTGGATGGATGGATGGGTGGATGGAT GCATGGGTGGGTGGATGTATGGGTGGATGGATGCGTGGGTGGGTGGATGG ATGGGTGGATGGGTGGATGGATGGATGGATAGATGGGTGTGTGGATGGAT GGATGAGTGGGTGGATGGATGGGTGGATGGATGGGTAGGTGGGTGGATGG ATGGGTGGATGAGTGGATGGATGGATAGATGGGTGGGTGGATGGATGGAT GAGTGGGTGGAGGGATGGGTGGATGATGGATGGGTGGGTGGATGGATGGG TGGGTGGGTGGATGGGTGGGTGGGTGGATGGATGGGTGGGTGGGTGGATG GGTGGATGGATGGGTGGGTGGGTGGATGGATGGATGGATGGATGGATGGA TGGATGGGTGGATGGATGGGTGGGTGGGTGTGGTTGATGGAGTGGGTGAT TGATGATGGATGGTGGGTGGGGTGGTGATGGATGATTGGGTGGTGATGGA TGTGGTGATT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0272 a0001c0003t0002g0272	1	388	0.0026	559	c.-24 others(576): Show c.-24-1885_-24-1884insGGGTGAATGGATGGATGAGTGGGTGGAT GGATGGGTGGATGAATGGGTGGGTGGGTGCGTGGGTGGGTGGATGGATGG ATGGGTGGATGGATGCATGGGTGGGTGGATGTATGGGTGGATGGATGCGT GGGTGGGTGGATGGATGGGTGGATGGGTGGATGGATGGATGGATAGATGG GTGTGTGGATGGATGGATGAGTGGGTGGATGGATGGGTGGATGGATGGGT AGGTGGGTGGATGGATGGGTGGATGAGTGGATGGATGGATAGATGGGTGG GTGGATGGATGGATGAGTGGGTGGAGGGATGGGTGGATGATGGATGGGTG GGTGGATGGATGGGTGGGTGGGTGGATGGGTGGGTGGGTGGATGGATGGG TGGGTGGGTGGATGGGTGGATGGATGGGTGGGTGGGTGGATGGATGGATG GATGGATGGATGGATGGATGGGTGGATGGATGGGTGGGTGGGTGTGGTTG ATGGAGTGGGTGATTGATGATGGATGGTGGGTGGGGTGGTGATGGATGAT TGGGTGGTGATGGATGTGGTGATTGGTGGGT	SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLX9_chr21_44935029_44981973	44973392	A A	AGTGCCCT others(552): Show AGTGCCCTCACCCCGCCCACCCTCTCCAGGGGTTCAGCTCCTATGTGCCC TCACCCCGCCCACCCTCTCCAGGGGTTCAGCTCCTGAGTGCCCTCACCCC GCCCACCCTCTCCAGGGGTTCAGCTCCTGAGTGCCCTCACCCCGCCCACC CTCTCCAGGGATTCAGCTCCTGAGTGCCCTCACCCCGCCCACCCTCTCCA GGGGTTCAGCTCCTGAGTGCCCTCACCCCGCCCACCCTCTCCAGGGATTC AGCTCCTGAGTGCCCTCACCCCGCCCACCCTCTCCAGGGGTTCAGCTCCT ATGTGCCCTCACCCCGCCCACCCTCTCCAGGGGTTCAGCTCCTATGTGCC CTCACCCCGCCCACCCTCTCCAGGGGTTCAGCTCCTGAGTGCCCTCACCC CGCCCACCCTCTCCAGGGGTTCAGCTCCTGAGTGCCCTCACCCCGCCCAC CCTCTCCAGGGATTCAGCTCCTGAGTGCCCTCACCCCGCCCACCCTCTCC AGGGGTTCAGCTCCTGAGTGCCCTCACCCTGCCCACCCTCTCCAGGGGTT CAGCTCCTAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01109.hp2 others(2): Show HG01069.hp1 HG01071.hp2 HG01109.hp2 HG01981.hp2 NA20905.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0016 a0003c0003t0001g0216 a0003c0003t0001g0218 a0003c0003t0001g0016 a0003c0003t0001g0216 a0003c0003t0001g0218	5	334	0.0150	559	c.569 others(574): Show c.569+243_569+244insGTTCAGCTCCTGAGTGCCCTCACCCCGCCC ACCCTCTCCAGGGATTCAGCTCCTGAGTGCCCTCACCCCGCCCACCCTCT CCAGGGGTTCAGCTCCTGAGTGCCCTCACCCCGCCCACCCTCTCCAGGGA TTCAGCTCCTGAGTGCCCTCACCCCGCCCACCCTCTCCAGGGGTTCAGCT CCTATGTGCCCTCACCCCGCCCACCCTCTCCAGGGGTTCAGCTCCTATGT GCCCTCACCCCGCCCACCCTCTCCAGGGGTTCAGCTCCTGAGTGCCCTCA CCCCGCCCACCCTCTCCAGGGGTTCAGCTCCTGAGTGCCCTCACCCCGCC CACCCTCTCCAGGGATTCAGCTCCTGAGTGCCCTCACCCCGCCCACCCTC TCCAGGGGTTCAGCTCCTGAGTGCCCTCACCCTGCCCACCCTCTCCAGGG GTTCAGCTCCTATGTGCCCTCACCCCGCCCACCCTCTCCAGGGGTTCAGC TCCTATGTGCCCTCACCCCGCCCACCCTCTCCAGGGGTTCAGCTCCTGAG TGCCCTCACCCCGCCCACCCTCTCCAGGG	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
SLX9_chr21_44935029_44981973	44973478	A A	AGTGCCCT others(552): Show AGTGCCCTCACCCCGCCCACCCTCTCCAGGGGTTCAGCTCCTGAGTGCCC TCACCCCGCCCACCCTCTCCAGGGATTCAGCTCCTGAGTGCCCTCACCCC GCCCACCCTCTCCAGGGGTTCAGCTCCTGAGTGCCCTCACCCCGCCCACC CTCTCCAGGGATTCAGCTCCTGAGTGCCCTCACCCCGCCCACCCTCTCCA GGGGTTCAGCTCCTATGTGCCCTCACCCCGCCCACCCTCTCCAGGGGTTC AGCTCCTATGTGCCCTCACCCCGCCCACCCTCTCCAGGGGTTCAGCTCCT GAGTGCCCTCACCCCGCCCACCCTCTCCAGGGGTTCAGCTCCTGAGTGCC CTCACCCCGCCCACCCTCTCCAGGGATTCAGCTCCTGAGTGCCCTCACCC CGCCCACCCTCTCCAGGGGTTCAGCTCCTGAGTGCCCTCACCCCGCCCAC CCTCTCCAGGGATTCAGCTCCTGAGTGCCCTCACCCCGCCCACCCTCTCC AGGGGTTCAGCTCCTGAGTGCCCTCACCCTGCCCACCCTCTCCAGGGGTT CAGCTCCTAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0214 a0002c0002t0001g0214	1	334	0.0030	559	c.569 others(574): Show c.569+243_569+244insGTTCAGCTCCTGAGTGCCCTCACCCCGCCC ACCCTCTCCAGGGATTCAGCTCCTGAGTGCCCTCACCCCGCCCACCCTCT CCAGGGGTTCAGCTCCTGAGTGCCCTCACCCCGCCCACCCTCTCCAGGGA TTCAGCTCCTGAGTGCCCTCACCCCGCCCACCCTCTCCAGGGGTTCAGCT CCTATGTGCCCTCACCCCGCCCACCCTCTCCAGGGGTTCAGCTCCTATGT GCCCTCACCCCGCCCACCCTCTCCAGGGGTTCAGCTCCTGAGTGCCCTCA CCCCGCCCACCCTCTCCAGGGGTTCAGCTCCTGAGTGCCCTCACCCCGCC CACCCTCTCCAGGGATTCAGCTCCTGAGTGCCCTCACCCCGCCCACCCTC TCCAGGGGTTCAGCTCCTGAGTGCCCTCACCCCGCCCACCCTCTCCAGGG ATTCAGCTCCTGAGTGCCCTCACCCCGCCCACCCTCTCCAGGGGTTCAGC TCCTGAGTGCCCTCACCCTGCCCACCCTCTCCAGGGGTTCAGCTCCTATG TGCCCTCACCCCGCCCACCCTCTCCAGGG	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
SLX9_chr21_44935029_44981973	44973478	A A	AGTGCCCT others(552): Show AGTGCCCTCACCCCGCCCACCCTCTCCAGGGGTTCAGCTCCTGAGTGCCC TCACCCCGCCCACCCTCTCCAGGGATTCAGCTCCTGAGTGCCCTCACCCC GCCCACCCTCTCCAGGGGTTCAGCTCCTGAGTGCCCTCACCCCGCCCACC CTCTCCAGGGATTCAGCTCCTGAGTGCCCTCACCCCGCCCACCCTCTCCA GGGGTTCAGCTCCTATGTGCCCTCACCCCGCCCACCCTCTCCAGGGGTTC AGCTCCTGAGTGCCCTCACCCCGCCCACCCTCTCCAGGGATTCAGCTCCT GAGTGCCCTCACCCCGCCCACCCTCTCCAGGGGTTCAGCTCCTGAGTGCC CTCACCCCGCCCACCCTCTCCAGGGGTTCAGCTCCTATGTGCCCTCACCC CGCCCACCCTCTCCAGGGGTTCAGCTCCTGAGTGCCCTCACCCCGCCCAC CCTCTCCAGGGATTCAGCTCCTGAGTGCCCTCACCCCGCCCACCCTCTCC AGGGGTTCAGCTCCTGAGTGCCCTCACCCCGCCCACCCTCTCCAGGGGTT CAGCTCCTAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0223 a0004c0004t0001g0223	1	334	0.0030	559	c.569 others(574): Show c.569+243_569+244insGTTCAGCTCCTGAGTGCCCTCACCCCGCCC ACCCTCTCCAGGGATTCAGCTCCTGAGTGCCCTCACCCCGCCCACCCTCT CCAGGGGTTCAGCTCCTGAGTGCCCTCACCCCGCCCACCCTCTCCAGGGA TTCAGCTCCTGAGTGCCCTCACCCCGCCCACCCTCTCCAGGGGTTCAGCT CCTATGTGCCCTCACCCCGCCCACCCTCTCCAGGGGTTCAGCTCCTGAGT GCCCTCACCCCGCCCACCCTCTCCAGGGATTCAGCTCCTGAGTGCCCTCA CCCCGCCCACCCTCTCCAGGGGTTCAGCTCCTGAGTGCCCTCACCCCGCC CACCCTCTCCAGGGGTTCAGCTCCTATGTGCCCTCACCCCGCCCACCCTC TCCAGGGGTTCAGCTCCTGAGTGCCCTCACCCCGCCCACCCTCTCCAGGG ATTCAGCTCCTGAGTGCCCTCACCCCGCCCACCCTCTCCAGGGGTTCAGC TCCTGAGTGCCCTCACCCCGCCCACCCTCTCCAGGGGTTCAGCTCCTATG TGCCCTCACCCCGCCCACCCTCTCCAGGG	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
TEX29_chr13_111315642_111349248	111340777	A A	AATCATAA others(552): Show AATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATA ACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTG TTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTG AGCACCTGTGCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCACCT GTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTG TTGATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGA ACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCAT AACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGT GTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGT GAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACC TGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTT GTTGATGAAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0060 a0001c0002t0001g0060	1	416	0.0024	559	c.239 others(574): Show c.239+887_239+888insCATCATAACCCGTGTTTAGTGAGCACCTGT GCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTT GATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAC ATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAA CCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGTGT TTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGTGTTTAGTGA GCACCTGTGCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCACCTG TGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGT TGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAA AATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATA ACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGTG TTTAGTGAGCACCTGTGCTTGTTGATGAA	TEX29	ENSG00000153495.11	transcript	ENST00000283547.2	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
THEG_chr19_356747_381026	377606	G G	GCCCCCAC others(552): Show GCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCT CTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCC CCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCT CTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCAGC CTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACC CAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCC CACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTA CCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCG TGCCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCAGCCTCTCCCCCT CTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCC CTCTGTGCCCCACCCAGCCTCTCTCCCCCCGTGCCCCACCCAGCCTCTCC CCCTCTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0029 a0001c0003t0029	a0001c0003t0029g0028 a0001c0003t0029g0028	1	370	0.0027	559	c.-16 others(570): Show c.-1637_-1636insGCACAGAGGGGGAGAGGCTGGGTGGGGCACGGGG GGAGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAG AGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCAC GGGGGGGGAGAGGCTGGGTGGGGGCACGGGGGGGGAGAGGCTGGGTGGGG CACAGAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGG GGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGG GTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGG CTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACGGGGGGGGAG AGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGG GAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGA GGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCA CAGAGGGGGAGAGGCTGGGTGGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1581		chr19	TogoVar
THNSL2_chr2_88165346_88191627	88181332	C C	CCTCTCTC others(552): Show CCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTT CTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTTCTCTCTCTCC TCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTC CTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCT CCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCCT CTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCTCCTC TCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCT CTCTCTCTCTCCTCTCTCTCCCCTCTCTCTCCTCTCTCTCTCCTCTCTCT CTCCTCTCTCTCTCCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCCT CTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCC CCTCTCTCTCCCCTCTCTCTCCTCTCTCTCCTCTCTCTCTCTCTCTCCTC TCTCTCCTCT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	54	0.0185	559	c.803 others(576): Show c.803-1360_803-1359insTCCTCTCTCTCCTCTCTCTCTCCTCTCT CTCTCCTCTCTCTTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTC TCTTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCT CTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTC TCTCTCTCCTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCT CTCTCCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTC TCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCTCT CCTCTCTCCTCTCTCTCTCTCTCTCCTCTCTCTCCCCTCTCTCTCCTCTC TCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCTCCTCTCT CTCTCCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTC TCTCCTCTCTCTCCCCTCTCTCTCCCCTCTCTCTCCTCTCTCTCCTCTCT CTCTCTCTCTCCTCTCTCTCCTCTCTCTCTC	THNSL2	ENSG00000144115.18	transcript	ENST00000674334.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
THOP1_chr19_2780503_2820807	2811790	T T	TGGGGACA others(552): Show TGGGGACAGGGAGGGCGTCCTGAACGGCAAGGTACGCGGGGACCGGGGAC AGGGAGGGCGTCCTGAATGGCAAGGTACGCGGGGACTGGGGACAGGGAGG GCGTCCTGAACGGCAAGGTACGCGGGGACCGGGGACAGGGAGGGCGTCCT GAATGGCAAGGTACGCGGGGACTGGGGACAGGGAGGGCGTCCTGAACGGC AAGGTACGCGGGGACCGGGGACAGGGAGGGCGTCCTGAACGGCAAGGTAC GCGGGGACCGGGGACAGGGAGGGCGTCCTGAATGGCAAGGTACGCGGGGA CCGGGGACAGGGAGGGCGTCCTGAATGGCAAGGTACGCGGGGACTGGGGA CAGGGAGGGCGTCCTGAACGGCAAGGTACGCGGGGACCGGGGACAGGGAG GGCGTCCTGAATGGCAAGGTACGCGGGGACTGGGGACAGGGAGGGCGTCC TGAACGGCAAGGTACGCGGGGACCGGGGACAGGGAGGGCGTCCTGAACGG CAAGGTACGCGGGGACCGGGGACAGGGAGGGCGTCCTGAATGGCAAGGTA CGCGGGGACC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02630.hp1 HG02809.hp1 others(6): Show HG02451.hp1 HG02630.hp1 HG02809.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG03225.hp2 NA18906.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0006 a0001c0001t0005g0047 a0001c0001t0005g0080 others(1): Show a0001c0001t0005g0006 a0001c0001t0005g0047 a0001c0001t0005g0080 a0001c0001t0005g0175	9	370	0.0243	559	c.190 others(574): Show c.1908+79_1908+80insCGGCAAGGTACGCGGGGACCGGGGACAGGG AGGGCGTCCTGAATGGCAAGGTACGCGGGGACTGGGGACAGGGAGGGCGT CCTGAACGGCAAGGTACGCGGGGACCGGGGACAGGGAGGGCGTCCTGAAT GGCAAGGTACGCGGGGACTGGGGACAGGGAGGGCGTCCTGAACGGCAAGG TACGCGGGGACCGGGGACAGGGAGGGCGTCCTGAACGGCAAGGTACGCGG GGACCGGGGACAGGGAGGGCGTCCTGAATGGCAAGGTACGCGGGGACCGG GGACAGGGAGGGCGTCCTGAATGGCAAGGTACGCGGGGACTGGGGACAGG GAGGGCGTCCTGAACGGCAAGGTACGCGGGGACCGGGGACAGGGAGGGCG TCCTGAATGGCAAGGTACGCGGGGACTGGGGACAGGGAGGGCGTCCTGAA CGGCAAGGTACGCGGGGACCGGGGACAGGGAGGGCGTCCTGAACGGCAAG GTACGCGGGGACCGGGGACAGGGAGGGCGTCCTGAATGGCAAGGTACGCG GGGACCGGGGACAGGGAGGGCGTCCTGAA	THOP1	ENSG00000172009.15	transcript	ENST00000307741.11	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(552): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCC CTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCC CCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCC TCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCC TCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCC TCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTC CTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCC TTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTC CTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02280.hp1 HG03471.hp2 HG01496.hp2 HG02280.hp1 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0022 a0001c0002t0002g0133 a0001c0002t0002g0022 a0001c0002t0002g0133	3	334	0.0090	559	c.657 others(574): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCC CTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCC CCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCC CCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTC CCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTC CCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTT TCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCC TTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCC CCTTCCTCCCTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(552): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCC CTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCC CCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCC TCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCC TCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCC TCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTC CTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCC TTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTC CTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0109 a0001c0002t0002g0109	1	334	0.0030	559	c.657 others(574): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCC CCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCC CCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTC CCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTC CCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTT TCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCC TTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCC CCTTCCTCCCTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
UCN3_chr10_5359966_5379692	5369985	A A	ATGTGTGT others(552): Show ATGTGTGTATGTGTGTGTATATGTGTGTGTATGTGTGTGTGTATGTGTGT GTATATGTGTGTGTGTATGTGTGTGTGTATGTGTGTGTGTGTATATGTGT GTGTATATGTGTGTGTATGTGTGTGTATATGTGTGTGTATATGCGTGTGT ATATGCGTGTGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTGT ATATGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTATATGTGTGT GTATATGTGTGTTCATGTGTATGTGTGTAAGGTGTGTATGTGTGTGTATG TGTGTATATATGTGTGTATGTGTGTGTATGTGTGTGTGTATATGCGTGTA TATGCGTGTGTATGCGTGTGTATGCGTGTGTATGTGTGTGTATGTGTGTA TGTGTGTATGTGTGTGTATGTGTGTGTATATGTGTGTGTGTATATGTGCG TGTATGTGTGTGTATGTGTGTATGTGTGTGTATATGTGTGTATATGTGTG TGTGTATATGTGCGTGTATATGTGTGTGTGTATGTGTGTATGTGTGTGTA TATGTGTGTG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0025 a0001c0006t0025	a0001c0006t0025g0379 a0001c0006t0025g0379	1	468	0.0021	559	c.-6- others(574): Show c.-6-3729_-6-3728insGTGTGTATGTGTGTGTATATGTGTGTGTAT GTGTGTGTGTATGTGTGTGTATATGTGTGTGTGTATGTGTGTGTGTATGT GTGTGTGTGTATATGTGTGTGTATATGTGTGTGTATGTGTGTGTATATGT GTGTGTATATGCGTGTGTATATGCGTGTGTGTGTGTATGTGTGTGTATGT GTGTGTATGTGTGTGTGTATATGTGTGTATGTGTGTGTATGTGTGTGTAT GTGTGTGTATATGTGTGTGTATATGTGTGTTCATGTGTATGTGTGTAAGG TGTGTATGTGTGTGTATGTGTGTATATATGTGTGTATGTGTGTGTATGTG TGTGTGTATATGCGTGTATATGCGTGTGTATGCGTGTGTATGCGTGTGTA TGTGTGTGTATGTGTGTATGTGTGTATGTGTGTGTATGTGTGTGTATATG TGTGTGTGTATATGTGCGTGTATGTGTGTGTATGTGTGTATGTGTGTGTA TATGTGTGTATATGTGTGTGTGTATATGTGCGTGTATATGTGTGTGTGTA TGTGTGTATGTGTGTGTATATGTGTGTGT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UMAD1_chr7_7635752_7884223	7679098	C C	CATATATT others(552): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATAT TTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTAT ATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAATATATAT TTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATAT ATATTTATTTATTTAGTTTATAAATATATATTTATTTAGTTTATAAATAT ATATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATAC ATATTTACATATTTAGTTTATAAATATTTACATATTTAGTTTATAAATAC ATATTTACATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAA ATACATATTTATATATTTAGTTTATAAATATATATTTATATATTTAATTT ATAGATAAAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0249 a0001c0001t0023g0249	1	250	0.0040	559	c.82+ others(574): Show c.82+5669_82+5670insAACATATATTTATATATTTAGTTTATAAAC ATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTAT AAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGT TTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATT TAGTTTATAAACATATATTTATATATTTAGTTTATAAATATATATTTATA TATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATATT TATTTATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATATT TACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATATT TACATATTTAGTTTATAAATATTTACATATTTAGTTTATAAATACATATT TACATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAATACA TATTTATATATTTAGTTTATAAATATATATTTATATATTTAATTTATAGA TAAATATATATTTATATATTTAGTTTATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679116	G G	GTTTATAA others(552): Show GTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATA TTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTA TATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATA TTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACA TATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTATA AATATATATTTATTTATTTAGTTTATAAATATATATTTATTTAGTTTATA AATATATATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATA AATACATATTTACATATTTAGTTTATAAATATTTACATATTTAGTTTATA AATACATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTATATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATATATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0013 a0001c0001t0049g0013	1	250	0.0040	559	c.82+ others(574): Show c.82+5669_82+5670insAACATATATTTATATATTTAGTTTATAAAC ATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTAT AAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGT TTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATT TAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATA TATTTAGTTTATAAATATATATTTATTTATTTAGTTTATAAATATATATT TATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATT TATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATATTTACA TATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATATT TACATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAATACA TATTTATATATTTAGTTTATAAATATATATTTATATATTTAATTTATAGA TAAATATATATTTATATATTTAATTTATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679116	G G	GTTTATAA others(552): Show GTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATA TTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTA TATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATA TTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAATA TATATTTACATATTTAGTTTATAAATATATATTTATATATTTAGTTTATA AATATATATTTACTTATTTAGTTTATAAATATATATTTATTTAGTTTATA AATATATATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATA AATACATATTTACATATTTAGTTTATAAATATTTACATATTTAGTTTATA AATACATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTATATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATATATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAA	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0245 a0001c0001t0023g0245	1	250	0.0040	559	c.82+ others(574): Show c.82+5669_82+5670insAACATATATTTATATATTTAGTTTATAAAC ATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTAT AAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGT TTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATT TAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTATA TATTTAGTTTATAAATATATATTTACTTATTTAGTTTATAAATATATATT TATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATT TATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATATTTACA TATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATATT TACATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAATACA TATTTATATATTTAGTTTATAAATATATATTTATATATTTAATTTATAGA TAAATATATATTTATATATTTAATTTATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679116	G G	GTTTATAA others(552): Show GTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATA TTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTA TATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATA TTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAATA TATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATA AATATATATTTATTTATTTAGTTTATAAATATATATTTATTTAGTTTATA AATATATATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATA AATACATATTTACATATTTAGTTTATAAATATTTACATATTTAGTTTATA AATACATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTATATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATATATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 NA18968.hp1 HG01175.hp2 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0030 a0001c0001t0006 a0001c0001t0030	a0001c0001t0006g0176 a0001c0001t0030g0248 a0001c0001t0006g0176 a0001c0001t0030g0248	2	250	0.0080	559	c.82+ others(574): Show c.82+5669_82+5670insAACATATATTTATATATTTAGTTTATAAAC ATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTAT AAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGT TTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATT TAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATATTTATA TATTTAGTTTATAAATATATATTTATTTATTTAGTTTATAAATATATATT TATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATT TATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATATTTACA TATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATATT TACATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAATACA TATTTATATATTTAGTTTATAAATATATATTTATATATTTAATTTATAGA TAAATATATATTTATATATTTAATTTATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
VCX_chrX_7838171_7849143	7844261	G G	GGTGGTGT others(552): Show GGTGGTGTGAGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGG GAGGAAGAGGTGTGTGGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGA GGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGAAGAGGTGTGTGGGGAGG GAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGG AAGAGGTGGTGTGTGGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGA AGAGGTGTGTGGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGAAGAGGT GTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGG AGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAG GTGTGTGGGGAGGGAGGGAGGGAGGAATAGGTGGTGTGTGGGGAGGGAGG GAGGGAGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0031 a0031	a0031c0104 a0031c0104	a0031c0104t0001 a0031c0104t0001	a0031c0104t0001g0001 a0031c0104t0001g0001	1	341	0.0029	559	c.24 others(568): Show c.245_*246insGTGGTGTGAGGGGAGGGAGGGAGGAAGAGGAGGTGT GTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGAAGAGGTGTGT GGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGAAGAG GTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAG GGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGGGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGG GAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGAAGAGGTGTGTGGGGA GGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTG TGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGG GAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAATAGGTGGTGT GTGGGGAGGGAGGGAGGGAGGAA	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		119		chrX	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(552): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCTCC TCCCCCTCCCCTCTCCTCCTCTCCCCCTCCTCCTCTCCCCTCCTCTCCCC TCCCCTCCCCCTCTCCCCTCCTCCCCTCCCCTCCCCCTCTCCCCCTCCCC TCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCTCC CCTCGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTC CTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCC CTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCC CTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCCC CCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCC CCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCC CTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0102 a0002c0002t0001g0102	1	246	0.0041	559	c.53- others(572): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCC TCCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCCTCCTCCTCTCCCCTCCT CTCCCCTCCCCTCCCCCTCTCCCCTCCTCCCCTCCCCTCCCCCTCTCCCC CTCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCCTCCCCCTCTC CCCTCCCCTCGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTCTC CCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCC CTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT CTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCC TCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCC TCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCC CCCTCCCTTCCCCCTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA2_chr10_114234254_114299489	114253208	T T	TCCCCCTC others(552): Show TCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCTCCCCCTCCCC TCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCC CTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCC CTCTCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTC CCCTCCCCCTCTCCTCTCCCCCTCCCCCTCCCCCTCTCCTCTCCCCCTCC CCCTCTCCCCCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCCCCCT CCCCCTCTCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCC CCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCTCCCCCTCCCCCTCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCTC CCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTT TCCCCCCTCC	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	246	0.0041	559	c.53- others(572): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCT CTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTC CCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTGTCCCC CTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCCCCCTCCCCC TCTCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCTCCCCCTCTC CTCTCCCCCTCCCCCTCCCCCTCTCCTCTCCCCCTCCCCCTCTCCCCCTC CCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCTCCCC CTCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCC CCCTCCCCCTCCCCTTTCCCCCCTCCC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
ZFYVE28_chr4_2264597_2423645	2299660	G G	GGGAAAGG others(552): Show GGGAAAGGAAGGGAGGGGAGGGAGGGAGGGAGAAAAGGGAAGTGAGAGGA AGGAGGGAGGGAGGAAAGGGAAGGGAGAGGAGGGAGGGAGTGAGGGAAGG GAAGGGAGGGGAGGGAGGTAGGCAGGGAAGGGAGGGGAGGGAGGGAGGGG AGGGAGGGGAGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGG GAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGGAGGGAGG GAAGTGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGGC AGGGAGGGGAGGGAGGGAGGGGAGGGAGGGGAGGGAGGGGAGGGGAGGGA GGGGAGGGAAGGGGAGGGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGA GGGAGGGAAGGCAGGGAGGGGAGGGAGGGAGGGAAGGGAGGGGAGGGAGG GAGGGAAGTGAAGGAAAGGGAAAGAGGGAGGGAGGGAAGGGAAGGGAAGG GAAGGGAGGGGAGGGTGGGGAGGGTGGGATGAAGGAAATGGAAAGAAAGG AAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02027.hp2 HG02129.hp1 others(2): Show HG00609.hp1 HG02027.hp2 HG02129.hp1 HG02683.hp2 NA19080.hp1	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0002 a0001c0005t0002 a0001c0004t0002 a0001c0005t0002	a0001c0004t0002g0029 a0001c0004t0002g0087 a0001c0004t0002g0145 others(2): Show a0001c0004t0002g0029 a0001c0004t0002g0087 a0001c0004t0002g0145 a0001c0004t0002g0260 a0001c0005t0002g0055	5	290	0.0172	559	c.205 others(578): Show c.2051+4628_2051+4629insTTCTTTCTTTCCTTTCTTTCCATTTC CTTCATCCCACCCTCCCCACCCTCCCCTCCCTTCCCTTCCCTTCCCTTCC CTCCCTCCCTCTTTCCCTTTCCTTCACTTCCCTCCCTCCCTCCCCTCCCT TCCCTCCCTCCCTCCCCTCCCTGCCTTCCCTCCCTCCCTCCCCTCACTTC CCTCCCTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTCCCCTC CCTCCCCTCCCTCCCCTCCCTCCCTCCCCTCCCTGCCTTCCCTCCCTCCC TCCCCTCACTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCT CCCTCCCCTTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTTCC CTCCCCTCCCTCCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCTCCCTCCC CTCCCTTCCCTGCCTACCTCCCTCCCCTCCCTTCCCTTCCCTCACTCCCT CCCTCCTCTCCCTTCCCTTTCCTCCCTCCCTCCTTCCTCTCACTTCCCTT TTCTCCCTCCCTCCCTCCCCTCCCTTCCTTTCC	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	8/12			chr4	TogoVar
ZNF365_chr10_62369369_62407450	62370997	A A	ATATATAT others(552): Show ATATATATCATATATGTGATATATATCATATATATCAAATATATGATATA TATCATATATGTGATATATATCACATATGTGATATATATCATATCACATA TCATATGACATATCATATCACATATCACATATCACATATCACATATCATA TGATATATATCACATGTGATATATAGCATATGTGATATATATCATATATA TCACATGTGATATATAGCATATGTGATATATATCATATATATCACATATG ATATATAGCATATGTGATATATATCATATATATCACATATGCTATATAGC ATACGTGATATATATCATATATATCATATATGATGTATAGCATGATATAT ATGCTATATATCACATGTGATATATAGCATATATATCACATGTGATATAT AGCATATATATCACATGTGATATATAGCATATATATCACATGTGATATAT AGCATATGTGATATATATGATATATGTGATATATATCATATGTGATATAT ATGATATATATCACATATATATGATATATATCACATATATATCATATATA TCATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp1 NA19001.hp1 NA18993.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	2	350	0.0057	559	c.-34 others(570): Show c.-3475_-3474insTATATATCATATATGTGATATATATCATATATAT CAAATATATGATATATATCATATATGTGATATATATCACATATGTGATAT ATATCATATCACATATCATATGACATATCATATCACATATCACATATCAC ATATCACATATCATATGATATATATCACATGTGATATATAGCATATGTGA TATATATCATATATATCACATGTGATATATAGCATATGTGATATATATCA TATATATCACATATGATATATAGCATATGTGATATATATCATATATATCA CATATGCTATATAGCATACGTGATATATATCATATATATCATATATGATG TATAGCATGATATATATGCTATATATCACATGTGATATATAGCATATATA TCACATGTGATATATAGCATATATATCACATGTGATATATAGCATATATA TCACATGTGATATATAGCATATGTGATATATATGATATATGTGATATATA TCATATGTGATATATATGATATATATCACATATATATGATATATATCACA TATATATCATATATATCATATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3371		chr10	TogoVar
ZNF85_chr19_20918251_20955697	20919189	A A	ATACAAGT others(552): Show ATACAAGTATATATATATACTTGTATATATATACAAGTATATATATACTT GTATACATATATACTATATATATACATATATACACATATATACGTATATA TATGTATATATACGTATATACATGTATATACACGTATATACATGTATATA TATGTATATACACATATATACATGTATATATACGTATATATACACATATA TACATGTATATATATACGTATATATACACATATATACATGTATATATATA CGTATATATACACGTATATATACACGTATATACATGTATATATATATACG TATATATACGTGTATATATATATACGTATATATACGTATATATACGTGTA TATATATACGTATATATACGTATATATACGTGTATATATATACGTATATA TACGTATATATATACGTGTATATATATACGTATATATACGTATATATATA CGTGTATATATATACGTATATATACGTATATATACGTATATATACATATA TACATGTATATATATATACGTATATACACATATATATACATGTATATATA TATGTGTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	383	0.0026	559	c.-42 others(570): Show c.-4212_-4211insTACAAGTATATATATATACTTGTATATATATACA AGTATATATATACTTGTATACATATATACTATATATATACATATATACAC ATATATACGTATATATATGTATATATACGTATATACATGTATATACACGT ATATACATGTATATATATGTATATACACATATATACATGTATATATACGT ATATATACACATATATACATGTATATATATACGTATATATACACATATAT ACATGTATATATATACGTATATATACACGTATATATACACGTATATACAT GTATATATATATACGTATATATACGTGTATATATATATACGTATATATAC GTATATATACGTGTATATATATACGTATATATACGTATATATACGTGTAT ATATATACGTATATATACGTATATATATACGTGTATATATATACGTATAT ATACGTATATATATACGTGTATATATATACGTATATATACGTATATATAC GTATATATACATATATACATGTATATATATATACGTATATACACATATAT ATACATGTATATATATATGTGTATG	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4061		chr19	TogoVar
ACTRT3_chr3_169761921_169774561	169771253	A A	ATTTATAT others(553): Show ATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAAT TTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATA TATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATT TATATATCATATATAAAAATTTATGTTTATATATCATAAATATAAAAAAT TATGTTTATATATCATAAATATAAAAAATTATGTTTATATATCATAAATA TAAAAAATTATGTTTATATATCATAAATATAAAAAATTATGTTTATATAT CATAAATATAAAAAATTATGTTTATATATCATAAATATAAAAAATTATGT TTATATATCATAAATATATAAAAATTTATGTTTATATATCATAAATATAT AAAAATTTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0012 a0002c0004t0001g0012	1	418	0.0024	560	c.-17 others(571): Show c.-1734_-1733insCATAAATTTTTATATATTTATGATATATAAACAT AAATTTTTATATATTTATGATATATAAACATAATTTTTTATATTTATGAT ATATAAACATAATTTTTTATATTTATGATATATAAACATAATTTTTTATA TTTATGATATATAAACATAATTTTTTATATTTATGATATATAAACATAAT TTTTTATATTTATGATATATAAACATAATTTTTTATATTTATGATATATA AACATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGATA TATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATAT GATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTAT ATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTT TTATATATGATATATAAATATAAATTTTTATATATGATATATAAATATAA ATTTTTATATATGATATATAAATATAAATTTTTATATATGATATATAAAT ATAAATTTTTATATATGATATATAAA	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1693		chr3	TogoVar
ARHGAP8_chr22_44747575_44867784	44800725	G G	GGCGCCCC others(553): Show GGCGCCCCTCCCCGCAGCTGTCCATGTGTGGGGGGCGCCCCTCCCCGCAG CTGTCCGTGTGTGGGGGCGCCCCTCCCCGCAGCTGTCCGTGTGTGGGGGT GCCTCTCCCCGCAGCTGTCCGTGTGTGGGGGCCGCCTCTCCCCGCAGCTG TCCGTGTGTGGGGGCCGCCTCTCCCCGCAGCTGTCCGTGTGTGGGGGCCG CCTCTCCCCGCAGCTGTCCGTGTGTGGGGGGCGCCTCTCCCCGCAGCTGT CCGTGTGTGGGGGGCGCCTCTCCCCGCAGCTGTCCGTGTGTGGGGGCCGC CTCTCCCCGCAGCTGTCCGTGTGTGGGGGCCGCCTCTCCCCGCAGCTGTC CGTGTGTGGGGGGCGCCTCTCCCCGCAGCTGTCCGTGTGTGGGGGGCGCC TCTCCCCGCAGCTGTCCGTGTGTGGGGGCCGCCTCTCCCCGCAGCTGTCC GTGTGTGGGGGCCGCCTCTCCCCGCAGCTGTCCGTGTGTGGGGGCCGCCT CTCCCCGCAGCTGTCCGTGTGTGGGGGCCGCCTCTCCCCGCAGCTGTCCG TGTGTGGGGGC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0005 a0008c0014t0005	a0008c0014t0005g0022 a0008c0014t0005g0022	1	390	0.0026	560	c.80- others(575): Show c.80-1352_80-1351insGCGCCCCTCCCCGCAGCTGTCCATGTGTGG GGGGCGCCCCTCCCCGCAGCTGTCCGTGTGTGGGGGCGCCCCTCCCCGCA GCTGTCCGTGTGTGGGGGTGCCTCTCCCCGCAGCTGTCCGTGTGTGGGGG CCGCCTCTCCCCGCAGCTGTCCGTGTGTGGGGGCCGCCTCTCCCCGCAGC TGTCCGTGTGTGGGGGCCGCCTCTCCCCGCAGCTGTCCGTGTGTGGGGGG CGCCTCTCCCCGCAGCTGTCCGTGTGTGGGGGGCGCCTCTCCCCGCAGCT GTCCGTGTGTGGGGGCCGCCTCTCCCCGCAGCTGTCCGTGTGTGGGGGCC GCCTCTCCCCGCAGCTGTCCGTGTGTGGGGGGCGCCTCTCCCCGCAGCTG TCCGTGTGTGGGGGGCGCCTCTCCCCGCAGCTGTCCGTGTGTGGGGGCCG CCTCTCCCCGCAGCTGTCCGTGTGTGGGGGCCGCCTCTCCCCGCAGCTGT CCGTGTGTGGGGGCCGCCTCTCCCCGCAGCTGTCCGTGTGTGGGGGCCGC CTCTCCCCGCAGCTGTCCGTGTGTGGGGGC	ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	2/11			chr22	TogoVar
ASAP2_chr2_9201812_9410678	9406079	G G	GTGTGTGT others(553): Show GTGTGTGTTTGTCACTGAGTGGGCCTCTGTGACATCTCGTCTTCCTCAGG CCTTCAATGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGGCTTC CTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTA GGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGGCCTCTGTGA CATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCT CTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGT GGGCCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCA CTGAGTGGGCCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGT TTGTCACTGAGTGGGCCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGT GTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCC TTCAGTGTGTGTTTGTCACTGAGTGGGCCTCTGTGACATCTAGGCTTCCT CAGGCCTTCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0152 a0001c0002t0003g0152	1	210	0.0048	560	c.27 others(571): Show c.2752_*2753insTGTGTGTTTGTCACTGAGTGGGCCTCTGTGACAT CTCGTCTTCCTCAGGCCTTCAATGTGTGTTTGTCACTGAGTGGACCTCTG TGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGA CCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTG AGTGGGCCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTG TCACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTG TGTTTGTCACTGAGTGGGCCTCTGTGACATCTCGTCTTCCTCAGGCCTTC AGTGTGTGTTTGTCACTGAGTGGGCCTCTGTGACATCTAGGCTTCCTCAG GCCTTCAGTGTGTGTTTGTCACTGAGTGGGCCTCTGTGACATCTCGTCTT CCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCT AGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGGCCTCTGTG ACATCTAGGCTTCCTCAGGCCTTCAA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding		402		chr2	TogoVar
ATP10A_chr15_25673712_25868327	25758488	C C	CCACCTGC others(553): Show CCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCA TTCCTATCACCTGCTCCACCCTAACTCATTCCTATCACCTGCTCCACCCT AACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCTATCACCTGCTC CACCCTAACTCATTCCTATCACCTGCTCCACCCTAACTCATTCCGACCAC CTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCC GACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACT CATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACC CTAACTCATTCCTATCACCTGCTCCACCCTAACTCATTCCTATCACCTGC TCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCTATC ACCTGCTCCACCCTAACTCATTCCTATCACCTGCTCCACCCTAACTCATT CCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAA CTCATTCCTAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0199 a0002c0002t0001g0199	1	300	0.0033	560	c.655 others(579): Show c.655-22348_655-22347insATAGGAATGAGTTAGGGTGGAGCAGG TGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGG AGCAGGTGATAGGAATGAGTTAGGGTGGAGCAGGTGATAGGAATGAGTTA GGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGATAGGAAT GAGTTAGGGTGGAGCAGGTGATAGGAATGAGTTAGGGTGGAGCAGGTGAT CGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCA GGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGT GGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGT TAGGGTGGAGCAGGTGATAGGAATGAGTTAGGGTGGAGCAGGTGATAGGA ATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTG ATAGGAATGAGTTAGGGTGGAGCAGGTGATAGGAATGAGTTAGGGTGGAG CAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10B_chr5_160558120_160857211	160652904	T T	TGTATTGC others(553): Show TGTATTGCATATAGATTGTACATACGTGTACATACAATGTATTGCATATA GATTGTACATACGTGTACATACAATGTATTGCATATAGATTGTACATACG TGTACATACAATGTATTGCATATAGATTGTACATACGTGTACATACAATG TATTGCATATAGATTGTACATACGTGTACATACAATGTATTGCATATAGA TTGTACATACGTGTACATACAATGTATTGCATATAGATTGTACATACGTG TACATACAATGTATTGCATATAGATTGTACATACGTGTACATACAATGTA TTGCATATAGATTGTACATACGTGTACATACAATGTATTGCATATAGATT GTACATACGTGTACATACAATGTATTGCATATAGATTGTACATACGTGTA CATACAATGTATTGCATATAGATTGTACATACGTGTACATACAATGTATT GCATAGATTGTACATACGTGTACATACAATGTATTGCATATAGATTGTAC ATACGTGTACATACAATGTATTGCATATAGATTGTACATACGTGTACATA CAATGTATTGC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0020 a0020	a0020c0030 a0020c0030	a0020c0030t0030 a0020c0030t0030	a0020c0030t0030g0217 a0020c0030t0030g0217	1	236	0.0042	560	c.676 others(577): Show c.676-3649_676-3648insGCAATACATTGTATGTACACGTATGTAC AATCTATATGCAATACATTGTATGTACACGTATGTACAATCTATATGCAA TACATTGTATGTACACGTATGTACAATCTATGCAATACATTGTATGTACA CGTATGTACAATCTATATGCAATACATTGTATGTACACGTATGTACAATC TATATGCAATACATTGTATGTACACGTATGTACAATCTATATGCAATACA TTGTATGTACACGTATGTACAATCTATATGCAATACATTGTATGTACACG TATGTACAATCTATATGCAATACATTGTATGTACACGTATGTACAATCTA TATGCAATACATTGTATGTACACGTATGTACAATCTATATGCAATACATT GTATGTACACGTATGTACAATCTATATGCAATACATTGTATGTACACGTA TGTACAATCTATATGCAATACATTGTATGTACACGTATGTACAATCTATA TGCAATACATTGTATGTACACGTATGTACAATCTATATGCAATACATTGT ATGTACACGTATGTACAATCTATATGCAATAC	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP13A3_chr3_194397677_194492002	194421136	A A	ATATATAG others(553): Show ATATATAGTTTATATATATATAGTTTATATATATATACTATATATATAGT TTATATATACTATATATATAGTTTATATATATATACTATATATAGTTTAT ATATATATACTATATATAGTATATATATACTATATATATACTATATATAT AGTTTATATATATATACTATATATATAGTTTATATATATACTATATATAT AGTTTATATATATACTATATATATAGTTTATATATATATACTATATATAT AGTTTATATATATATACTATATATATAGTATATATATATATAAACTATAT ATATAGTTTATATATATATAAACTATATATATAGTTTATATATATATATA CTATATATATAGTTTATATATATATATACTATATATATAGTTTATATATA TATATACTATATATATAGTTTATATATATATATACTATATATATAGTTTA TATATATATACTATATATATAGTTTATATATATATATACTATATATATAG TTTATATATATATATACTATATATATAGTTTATATATATATATACTATAT ATATAGTTTAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG06807.hp2 NA18906.hp2 HG02970.hp2 HG06807.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0232 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0232 a0001c0001t0002g0248 a0001c0001t0002g0249	3	304	0.0099	560	c.331 others(579): Show c.3314-1170_3314-1169insATAAACTATATATATAGTATATATAT ATATAAACTATATATATAGTATATATATATATAAACTATATATATAGTAT ATATATATATAAACTATATATATAGTATATATATATAAACTATATATATA GTATATATATATATAAACTATATATATAGTATATATATATATAAACTATA TATATAGTATATATATATATAAACTATATATATAGTATATATATATATAA ACTATATATATAGTTTATATATATATAAACTATATATATAGTTTATATAT ATATATACTATATATATAGTATATATATATAAACTATATATATAGTATAT ATATATAAACTATATATATAGTATATATATAAACTATATATATAGTATAT ATATAAACTATATATATAGTATATATATATAAACTATATATATAGTATAT ATATAGTATATATATACTATATATAGTATATATATATAAACTATATATAG TATATATATATAAACTATATATATAGTATATATAAACTATATATATAGTA TATATATATAAACTATATATATATAAACTATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
ATP13A3_chr3_194397677_194492002	194421136	A A	ATATATAT others(553): Show ATATATATAGTTTATATATATATAGTTTATATATATATACTATATATATA GTTTATATATACTATATATATAGTTTATATATATATACTATATATAGTTT ATATATATACTATATATAGTATATATATACTATATATATACTATATATAT AGTTTATATATATATACTATATATATAGTTTATATATATACTATATATAT AGTTTATATATATACTATATATATAGTTTATATATATATACTATATATAT AGTATATATATATAAACTATATATATAGTTTATATATATATAAACTATAT ATATAGTTTATATATATATATACTATATATATAGTATATATATATATAAA CTATATATATAGTTTATATATATATAAACTATATATATAGTTTATATATA TATATACTATATATATAGTTTATATATATATATATACTATATATATAGTA TATATATATATACTATATATATAGTTTATATATATATACTATATATATAG TTTATATATATATATACTATATATATAGTTTATATATATATATACTATAT ATATAGTTTAT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0217 a0001c0001t0002g0217	1	304	0.0033	560	c.331 others(579): Show c.3314-1170_3314-1169insATAAACTATATATATAGTATATATAT ATATAAACTATATATATAGTATATATATATATAAACTATATATATAGTAT ATATATATAAACTATATATATAGTATATATATATATACTATATATATAGT ATATATATATATATAAACTATATATATAGTATATATATATATAAACTATA TATATAGTTTATATATATATAAACTATATATATAGTTTATATATATATAT ACTATATATATAGTATATATATATATAAACTATATATATAGTTTATATAT ATATAAACTATATATATAGTTTATATATATATACTATATATATAGTATAT ATATATAAACTATATATATAGTATATATATAAACTATATATATAGTATAT ATATAAACTATATATATAGTATATATATATAAACTATATATATAGTATAT ATATAGTATATATATACTATATATAGTATATATATAAACTATATATAGTA TATATATATAAACTATATATATAGTATATATAAACTATATATATAGTATA TATATATAAACTATATATATATAAACTATATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
ATP9B_chr18_79064394_79383283	79200703	T T	TGTCAGAG others(553): Show TGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGG AGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGG GTCAGAGCAGAGGTGGAGGTGGGAACGTTGGGGTCAGAGCAGAGGTGGAG GTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGG TGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGT GGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCA GAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGCGGAGGTG GGAACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGTCAG AGCAGAGGCGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGG GAACTGTCGGG	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	298	0.0034	560	c.955 others(577): Show c.955-6211_955-6210insAACTGTCGGGGTCAGAGCAGAGGTGGAG GTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGAACGTTGGGGTCAGAGCAGAGGTGGAGGT GGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCA GAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTG GGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAG AGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGG GAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGA GCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGG AACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGTCAGAG CAGAGGCGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGA ACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	9/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(553): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGGA AGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGG AGGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGG AAGGGGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGA CGGAGGAGGAGGAAGGGGAAGGGGAGTGGGAGGAGGAAGGGGAAGAAGGA GGAGGAAGGGGGGAAGGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGA GGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGG AGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAG GAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGA AGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGGGGAAGTGG GGAAGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	300	0.0033	560	c.-70 others(569): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GGGGGAGGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGT GGGGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGG AGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGG AGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGGGGAGTGGGAGGAGGA AGGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGGGAGCGGGAGGAGGAAGG GGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGG AAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAA GAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGA AGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAG GAGGGGGAAGTGGGGAAGGGGAAG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar
C10orf90_chr10_126419997_126675693	126672434	G G	GCAGGACT others(553): Show GCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACC CCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCA GCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGG TCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAG GACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGA GACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTA CCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCAT CAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACT GGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACC AGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCC GAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGC TACCCCGAGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0048 a0002c0003t0001g0048	1	218	0.0046	560	c.-19 others(571): Show c.-1955_-1954insGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCG GGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTG GTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCA GTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGA TGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGT AGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCT CGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCC TGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGAC CAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCT GATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGG GTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGT CTCGGGGTAGCTGATGACCAGTCCTG	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding		1742		chr10	TogoVar
C10orf90_chr10_126419997_126675693	126672875	C C	CCCGAGAC others(553): Show CCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATC AGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTG GTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCA GGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCG AGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCT ACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCA TCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGAC TGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGAC CAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCC CGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAG CTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGT CATCAGCTACT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02896.hp2 HG02897.hp2 HG02615.hp1 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0023	3	218	0.0138	560	c.-23 others(571): Show c.-2396_-2395insAGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGC TGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGG GGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGG TCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAG TCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGAT GACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTA GCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTC GGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCT GGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACC AGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTG ATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGG TAGCTGATGACCAGTCCTGGTCTCGG	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding		2183		chr10	TogoVar
C1QTNF8_chr16_1083226_1101244	1092978	T T	TGCACACA others(553): Show TGCACACAGTCGGCGCTCAACCAATCCGTGCACACAGTCAGCACTCAACC AATCACAGCACACAGTCGGCGCTCAACCAATCACTGCACACAGTCGGCGC TCAACCAATCCGTGCACACAGTCGGCGCTCAACCAATCCCTGCACACAGT CGGCGCTCAACAAATCACAGCACACAGTCGGCGCTCAATCAATCCCTGCA CACAGTCGGCGCTCAACGAATCCCTGCACACAGTCGGCGCTCAATCAATC CCTGCACACAGTCGGCGCTCAACCAATCCCTGCACACAGTCGGCGCTCAA CAAATCACAGCACACAGTCGGCGCTCAATCAATCCCTGCACACAGTCGGC GCTCAACCAATCCGTGCACACAGTCGGCGCTCAACCAATCACTGCACACA GTCGGCGCTCAACCAATCACAGCACACAGTCGGCGCTCAATCAATCCCTG CACACAGTCGGCGCTCAACGAATCCGTGCACACAGTCGGCGCTCAATCAA TCCCTGCACACAGTCGGCGCTCAACCAATCCCTGCACACAGTCGGCGCTC AACAAATCACA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02109.hp1 HG02602.hp1 others(1): Show HG00733.hp1 HG02109.hp1 HG02602.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0073 a0001c0001t0004g0024 a0001c0001t0001g0073 a0001c0001t0004g0024	4	396	0.0101	560	c.4+ others(573): Show c.4+518_*4+519insTGTGATTTGTTGAGCGCCGACTGTGTGCAGGG ATTGGTTGAGCGCCGACTGTGTGCAGGGATTGATTGAGCGCCGACTGTGT GCACGGATTCGTTGAGCGCCGACTGTGTGCAGGGATTGATTGAGCGCCGA CTGTGTGCTGTGATTGGTTGAGCGCCGACTGTGTGCAGTGATTGGTTGAG CGCCGACTGTGTGCACGGATTGGTTGAGCGCCGACTGTGTGCAGGGATTG ATTGAGCGCCGACTGTGTGCTGTGATTTGTTGAGCGCCGACTGTGTGCAG GGATTGGTTGAGCGCCGACTGTGTGCAGGGATTGATTGAGCGCCGACTGT GTGCAGGGATTCGTTGAGCGCCGACTGTGTGCAGGGATTGATTGAGCGCC GACTGTGTGCTGTGATTTGTTGAGCGCCGACTGTGTGCAGGGATTGGTTG AGCGCCGACTGTGTGCACGGATTGGTTGAGCGCCGACTGTGTGCAGTGAT TGGTTGAGCGCCGACTGTGTGCTGTGATTGGTTGAGTGCTGACTGTGTGC ACGGATTGGTTGAGCGCCGACTGTGTGC	C1QTNF8	ENSG00000184471.10	transcript	ENST00000328449.6	protein_coding	4/4			chr16	TogoVar
C1QTNF8_chr16_1083226_1101244	1092978	T T	TGCACACA others(553): Show TGCACACAGTCGGCGCTCAACCAATCCGTGCACACAGTCAGCGCTCAACC AATCACAGCACACAGTCGGCGCTCAACCAATCACTGCACACAGTCGGCGC TCAACCAATCCGTGCACACAGTCGGCGCTCAACCAATCCCTGCACACAGT CGGCGCTCAACAAATCACAGCACACAGTCGGCGCTCAATCAATCCCTGCA CACAGTCGGCACTCAACGAATCCCTGCACACAGTCGGCGCTCAATCAATC CCTGCACACAGTCGGCGCTCAACCAATCCCTGCACACAGTCGGCGCTCAA CAAATCACAGCACACAGTCGGCGCTCAATCAATCCCTGCACACAGTCGGC GCTCAACCAATCCGTGCACACAGTCGGCGCTCAACCAATCACTGCACACA GTCGGCGCTCAACCAATCACAGCACACAGTCGGCGCTCAATCAATCCCTG CACACAGTCGGCGCTCAACGAATCCGTGCACACAGTCGGCGCTCAATCAA TCCCTGCACACAGTCGGCGCTCAACCAATCCCTGCACACAGTCGGCGCTC AACAAATCACA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02738.hp1 NA18946.hp2 others(5): Show HG00609.hp1 HG02738.hp1 NA18946.hp2 NA18990.hp2 NA18998.hp1 NA19085.hp1 NA19088.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	8	396	0.0202	560	c.4+ others(573): Show c.4+518_*4+519insTGTGATTTGTTGAGCGCCGACTGTGTGCAGGG ATTGGTTGAGCGCCGACTGTGTGCAGGGATTGATTGAGCGCCGACTGTGT GCACGGATTCGTTGAGCGCCGACTGTGTGCAGGGATTGATTGAGCGCCGA CTGTGTGCTGTGATTGGTTGAGCGCCGACTGTGTGCAGTGATTGGTTGAG CGCCGACTGTGTGCACGGATTGGTTGAGCGCCGACTGTGTGCAGGGATTG ATTGAGCGCCGACTGTGTGCTGTGATTTGTTGAGCGCCGACTGTGTGCAG GGATTGGTTGAGCGCCGACTGTGTGCAGGGATTGATTGAGCGCCGACTGT GTGCAGGGATTCGTTGAGTGCCGACTGTGTGCAGGGATTGATTGAGCGCC GACTGTGTGCTGTGATTTGTTGAGCGCCGACTGTGTGCAGGGATTGGTTG AGCGCCGACTGTGTGCACGGATTGGTTGAGCGCCGACTGTGTGCAGTGAT TGGTTGAGCGCCGACTGTGTGCTGTGATTGGTTGAGCGCTGACTGTGTGC ACGGATTGGTTGAGCGCCGACTGTGTGC	C1QTNF8	ENSG00000184471.10	transcript	ENST00000328449.6	protein_coding	4/4			chr16	TogoVar
C1QTNF8_chr16_1083226_1101244	1092978	T T	TGCACACA others(553): Show TGCACACAGTCGGCGCTCAACCAATCCGTGCACACAGTCAGCGCTCAACC AATCACAGCACACAGTCGGCGCTCAACCAATCACTGCACACAGTCGGCGC TCAACCAATCCGTGCACACAGTCGGCGCTCAACCAATCCCTGCACACAGT CGGCGCTCAACAAATCACAGCACACAGTCGGCGCTCAATCAATCCCTGCA CACAGTCGGCGCTCAACCAATCCCTGCACACAGTCGGCGCTCAATCAATC CCTGCACACAGTCGGCGCTCAACCAATCCCTGCACACAGTCGGCGCTCAA CAAATCACAGCACACAGTCGGCGCTCAATCAATCCCTGCACACAGTCGGC GCTCAACCAATCCGTGCACACAGTCGGCGCTCAACCAATCACTGCACACA GTCGGCGCTCAACCAATCACAGCACACAGTCGGCGCTCAATCAATCCCTG CACACAGTCGGCGCTCAACGAATCCGTGCACACAGTCGGCGCTCAATCAA TCCCTGCACACAGTCCGCGCTCAACCAATCCCTGCACACAGTCGGCGCTC AACAAATCACA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00609.hp2 HG00673.hp1 others(5): Show HG00558.hp2 HG00609.hp2 HG00673.hp1 HG02027.hp1 HG02155.hp2 NA18942.hp1 NA18952.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0039 a0001c0001t0001g0011 a0001c0001t0001g0039	8	396	0.0202	560	c.4+ others(573): Show c.4+518_*4+519insTGTGATTTGTTGAGCGCCGACTGTGTGCAGGG ATTGGTTGAGCGCGGACTGTGTGCAGGGATTGATTGAGCGCCGACTGTGT GCACGGATTCGTTGAGCGCCGACTGTGTGCAGGGATTGATTGAGCGCCGA CTGTGTGCTGTGATTGGTTGAGCGCCGACTGTGTGCAGTGATTGGTTGAG CGCCGACTGTGTGCACGGATTGGTTGAGCGCCGACTGTGTGCAGGGATTG ATTGAGCGCCGACTGTGTGCTGTGATTTGTTGAGCGCCGACTGTGTGCAG GGATTGGTTGAGCGCCGACTGTGTGCAGGGATTGATTGAGCGCCGACTGT GTGCAGGGATTGGTTGAGCGCCGACTGTGTGCAGGGATTGATTGAGCGCC GACTGTGTGCTGTGATTTGTTGAGCGCCGACTGTGTGCAGGGATTGGTTG AGCGCCGACTGTGTGCACGGATTGGTTGAGCGCCGACTGTGTGCAGTGAT TGGTTGAGCGCCGACTGTGTGCTGTGATTGGTTGAGCGCTGACTGTGTGC ACGGATTGGTTGAGCGCCGACTGTGTGC	C1QTNF8	ENSG00000184471.10	transcript	ENST00000328449.6	protein_coding	4/4			chr16	TogoVar
C1QTNF8_chr16_1083226_1101244	1092978	T T	TGCACACA others(553): Show TGCACACAGTCGGCGCTCAACCAATCCGTGCACACAGTCAGCGCTCAACC AATCACAGCACACAGTCGGCGCTCAACCAATCACTGCACACAGTCGGCGC TCAACCAATCCGTGCACACAGTCGGCGCTCAACCAATCCCTGCACACAGT CGGCGCTCAACAAATCACAGCACACAGTCGGCGCTCAATCAATCCCTGCA CACAGTCGGCGCTCAACGAATCCCTGCACACAGTCGGCGCTCAATCAATC CCTGCACACAGTCGGCGCTCAACCAATCCCTGCACACAGTCGGCGCTCAA CAAATCACAGCACACAGCCGGCGCTCAATCAATCCCTGCACACAGTCGGC GCTCAACCAATCCGTGCACACAGTCGGCGCTCAACCAATCACTGCACACA GTCGGCGCTCAACCAATCACAGCACACAGTCGGCGCTCAATCAATCCCTG CACACAGTCGGCGCTCAACGAATCCGTGCACACAGTCGGCGCTCAATCAA TCCCTGCACACAGTCGGCGCTCAACCAATCCCTGCACACAGTCGGCGCTC AACAAATCACA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0056 a0001c0001t0024g0056	1	396	0.0025	560	c.4+ others(573): Show c.4+518_*4+519insTGTGATTTGTTGAGCGCCGACTGTGTGCAGGG ATTGGTTGAGCGCCGACTGTGTGCAGGGATTGATTGAGCGCCGACTGTGT GCACGGATTCGTTGAGCGCCGACTGTGTGCAGGGATTGATTGAGCGCCGA CTGTGTGCTGTGATTGGTTGAGCGCCGACTGTGTGCAGTGATTGGTTGAG CGCCGACTGTGTGCACGGATTGGTTGAGCGCCGACTGTGTGCAGGGATTG ATTGAGCGCCGGCTGTGTGCTGTGATTTGTTGAGCGCCGACTGTGTGCAG GGATTGGTTGAGCGCCGACTGTGTGCAGGGATTGATTGAGCGCCGACTGT GTGCAGGGATTCGTTGAGCGCCGACTGTGTGCAGGGATTGATTGAGCGCC GACTGTGTGCTGTGATTTGTTGAGCGCCGACTGTGTGCAGGGATTGGTTG AGCGCCGACTGTGTGCACGGATTGGTTGAGCGCCGACTGTGTGCAGTGAT TGGTTGAGCGCCGACTGTGTGCTGTGATTGGTTGAGCGCTGACTGTGTGC ACGGATTGGTTGAGCGCCGACTGTGTGC	C1QTNF8	ENSG00000184471.10	transcript	ENST00000328449.6	protein_coding	4/4			chr16	TogoVar
C1QTNF8_chr16_1083226_1101244	1092978	T T	TGCACACA others(553): Show TGCACACAGTCGGCGCTCAACCAATCCGTGCACACAGTCAGCGCTCAACC AATCACAGCACACAGTCGGCGCTCAACCAATCACTGCACACAGTCGGCGC TCAACCAATCCGTGCACACAGTCGGCGCTCAACCAATCCCTGCACACAGT CGGCGCTCAACAAATCACAGCACACAGTCGGCGCTCAATCAATCCCTGCA CACAGTCGGCGCTCAACGAATCCCTGCACACAGTCGGCGCTCAATCAATC CCTGCACACAGTCGGCGCTCAACCAATCCCTGCACACAGTCGGCGCTCAA CAAATCACAGCACACAGTCGGCGCTCAATCAATCCCTGCACACAGTCGGC GCTCAACCAATCCGTGCACACAGTCGGCGCTCAACCAATCACTGCACACA GTCGGCGCTCAACCAATCACAGCACACAGTCGGCGCTCAATCAATCCCTG CACACAGTCGGCGCTCAACGAATCCGTGCACACAGTCGGCGCTCAATCAA TCCCTGCACACAGTCCGCGCTCAACCAATCCCTGCACACAGTCGGCGCTC AACAAATCACA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp2 HG02015.hp1 others(41): Show HG00423.hp2 HG00597.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02129.hp2 HG02135.hp2 NA18612.hp1 NA18747.hp2 NA18942.hp2 NA18943.hp2 NA18948.hp1 NA18950.hp1 NA18955.hp1 NA18956.hp1 NA18964.hp2 NA18971.hp2 NA18973.hp2 NA18975.hp1 NA18978.hp1 NA18980.hp2 NA18983.hp1 NA18990.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19011.hp1 NA19011.hp2 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19060.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19080.hp2 NA19087.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0022 a0001c0001t0046 a0004c0008t0001	a0001c0001t0001g0002 a0001c0001t0001g0020 a0001c0001t0001g0112 others(7): Show a0001c0001t0001g0002 a0001c0001t0001g0020 a0001c0001t0001g0112 a0001c0001t0001g0123 a0001c0001t0006g0085 a0001c0001t0008g0044 a0001c0001t0008g0063 a0001c0001t0022g0109 a0001c0001t0046g0110 a0004c0008t0001g0080	44	396	0.1111	560	c.4+ others(573): Show c.4+518_*4+519insTGTGATTTGTTGAGCGCCGACTGTGTGCAGGG ATTGGTTGAGCGCGGACTGTGTGCAGGGATTGATTGAGCGCCGACTGTGT GCACGGATTCGTTGAGCGCCGACTGTGTGCAGGGATTGATTGAGCGCCGA CTGTGTGCTGTGATTGGTTGAGCGCCGACTGTGTGCAGTGATTGGTTGAG CGCCGACTGTGTGCACGGATTGGTTGAGCGCCGACTGTGTGCAGGGATTG ATTGAGCGCCGACTGTGTGCTGTGATTTGTTGAGCGCCGACTGTGTGCAG GGATTGGTTGAGCGCCGACTGTGTGCAGGGATTGATTGAGCGCCGACTGT GTGCAGGGATTCGTTGAGCGCCGACTGTGTGCAGGGATTGATTGAGCGCC GACTGTGTGCTGTGATTTGTTGAGCGCCGACTGTGTGCAGGGATTGGTTG AGCGCCGACTGTGTGCACGGATTGGTTGAGCGCCGACTGTGTGCAGTGAT TGGTTGAGCGCCGACTGTGTGCTGTGATTGGTTGAGCGCTGACTGTGTGC ACGGATTGGTTGAGCGCCGACTGTGTGC	C1QTNF8	ENSG00000184471.10	transcript	ENST00000328449.6	protein_coding	4/4			chr16	TogoVar
C1QTNF8_chr16_1083226_1101244	1092978	T T	TGCACACA others(553): Show TGCACACAGTCGGCGCTCAACCAATCCGTGCACACAGTCAGCGCTCAACC AATCACAGCACACAGTCGGCGCTCAACCAATCACTGCACACAGTCGGCGC TCAACCAATCCGTGCACACAGTCGGCGCTCAACCAATCCCTGCACACAGT CGGCGCTCAACAAATCACAGCACACAGTCGGCGCTCAATCAATCCCTGCA CACAGTCGGCGCTCAACGAATCCCTGCACACAGTCGGCGCTCAATCAATC CCTGCACACAGTCGGCGCTCAACCAATCCCTGCACACAGTCGGCGCTCAA CAAATCACAGCACACAGTCGGCGCTCAATCAATCCCTGCACACAGTCGGC GCTCAACCAATCCGTGCACACAGTCGGCGCTCAACCAATCACTGCACACA GTCGGCGCTCAACCAATCACAGCACACAGTCGGCGCTCAATCAATCCCTG CACACAGTCGGCGCTCAACGAATCCGTGCACACAGTCGGCGCTCAATCAA TCCCTGCACACAGTCGGCGCTCAACCAATCCCTGCACACAGTCGGCGCTC AACAAATCACA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(155): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp2 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01169.hp1 HG01192.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02135.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02602.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03239.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18978.hp2 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19054.hp1 NA19055.hp2 NA19060.hp2 NA19063.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19079.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp2 NA19090.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0005 a0001c0010 others(3): Show a0001c0001 a0001c0005 a0001c0010 a0002c0004 a0003c0006 a0006c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(24): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0025 a0001c0001t0032 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0049 a0001c0001t0051 a0001c0005t0001 a0001c0005t0022 a0001c0010t0003 a0002c0004t0001 a0003c0006t0004 a0006c0007t0003	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0070 others(51): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0070 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0096 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0118 a0001c0001t0001g0126 a0001c0001t0001g0156 a0001c0001t0003g0003 a0001c0001t0003g0036 a0001c0001t0003g0122 a0001c0001t0004g0019 a0001c0001t0004g0097 a0001c0001t0006g0006 a0001c0001t0006g0067 a0001c0001t0006g0076 a0001c0001t0006g0083 a0001c0001t0006g0094 a0001c0001t0006g0095 a0001c0001t0008g0017 a0001c0001t0008g0018 a0001c0001t0008g0027 a0001c0001t0008g0043 a0001c0001t0008g0051 a0001c0001t0008g0053 a0001c0001t0015g0023 a0001c0001t0019g0037 a0001c0001t0020g0042 a0001c0001t0021g0038 a0001c0001t0025g0054 a0001c0001t0032g0068 a0001c0001t0033g0069 a0001c0001t0035g0135 a0001c0001t0036g0098 a0001c0001t0038g0134 a0001c0001t0039g0099 a0001c0001t0043g0157 a0001c0001t0044g0100 a0001c0001t0045g0101 a0001c0001t0049g0102 a0001c0001t0051g0103 a0001c0005t0001g0119 a0001c0005t0022g0120 a0001c0010t0003g0121 a0002c0004t0001g0034 a0003c0006t0004g0077 a0006c0007t0003g0079	158	396	0.3990	560	c.4+ others(573): Show c.4+518_*4+519insTGTGATTTGTTGAGCGCCGACTGTGTGCAGGG ATTGGTTGAGCGCCGACTGTGTGCAGGGATTGATTGAGCGCCGACTGTGT GCACGGATTCGTTGAGCGCCGACTGTGTGCAGGGATTGATTGAGCGCCGA CTGTGTGCTGTGATTGGTTGAGCGCCGACTGTGTGCAGTGATTGGTTGAG CGCCGACTGTGTGCACGGATTGGTTGAGCGCCGACTGTGTGCAGGGATTG ATTGAGCGCCGACTGTGTGCTGTGATTTGTTGAGCGCCGACTGTGTGCAG GGATTGGTTGAGCGCCGACTGTGTGCAGGGATTGATTGAGCGCCGACTGT GTGCAGGGATTCGTTGAGCGCCGACTGTGTGCAGGGATTGATTGAGCGCC GACTGTGTGCTGTGATTTGTTGAGCGCCGACTGTGTGCAGGGATTGGTTG AGCGCCGACTGTGTGCACGGATTGGTTGAGCGCCGACTGTGTGCAGTGAT TGGTTGAGCGCCGACTGTGTGCTGTGATTGGTTGAGCGCTGACTGTGTGC ACGGATTGGTTGAGCGCCGACTGTGTGC	C1QTNF8	ENSG00000184471.10	transcript	ENST00000328449.6	protein_coding	4/4			chr16	TogoVar

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Search Results (Total: 10000 hits)