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
SLC66A2_chr18_79897420_79956653	79919518	C C	CAAGGGAG others(516): Show CAAGGGAGAGGTCAAGCTCAGTGGGGAGAGATGGAACCGAGGGAGAGGTC AAGGTCAGTGGGGAGAGATGGAACCGACTGAGAGGTCAAGGTCAGTGGGG AGAGACGGAACCGAGTGAGAGGTCAAGGTCAGTGGGGAGAGACGGAACTG AGGGAGAGGTCAAGCTCAGTGGGGAGAGATGGAACCGACTGAGAGGTCAA GGTCAGTGGGGAGAGACGGAACCGAGTGAGAGGTCAGGGTCAGAGGAGGA GAGACGGGAACCGAGGGAGAGGTCAAGGTCAGTGGGGAGAGATGGAACCG ACTGAGAGGTCAAGGTCAGTGGGGAGAGACGGAACCGAGTGAGAGGTCAA GGTCAGTGGGGAGAGACGGAACTGAGGGAGAGGTCAAGCTCAGTGGGGAG AGATGGAACCGACTGAGAGGTCAAGGTCAGTGGGGAGAGACGGAACCGAG TGAGAGGTCAGGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAAG GTCAGAGGAGGAGAGACGGGAACT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	352	0.0028	523	c.392 others(538): Show c.392-119_392-118insAGTTCCCGTCTCTCCTCCTCTGACCTTGAC CTCTCCCTCGGTTCCTGTCTCTCCCCACTGACCCTGACCTCTCACTCGGT TCCGTCTCTCCCCACTGACCTTGACCTCTCAGTCGGTTCCATCTCTCCCC ACTGAGCTTGACCTCTCCCTCAGTTCCGTCTCTCCCCACTGACCTTGACC TCTCACTCGGTTCCGTCTCTCCCCACTGACCTTGACCTCTCAGTCGGTTC CATCTCTCCCCACTGACCTTGACCTCTCCCTCGGTTCCCGTCTCTCCTCC TCTGACCCTGACCTCTCACTCGGTTCCGTCTCTCCCCACTGACCTTGACC TCTCAGTCGGTTCCATCTCTCCCCACTGAGCTTGACCTCTCCCTCAGTTC CGTCTCTCCCCACTGACCTTGACCTCTCACTCGGTTCCGTCTCTCCCCAC TGACCTTGACCTCTCAGTCGGTTCCATCTCTCCCCACTGACCTTGACCTC TCCCTCGGTTCCATCTCTCCCCACTGAGCTTGACCTCTCCCTT	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC6A18_chr5_1220381_1251189	1238245	G G	GTCAGGTT others(516): Show GTCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAG TGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGGGCC TCAGGAAAGAGGTCAGGTTTGGAGTGAGCTTGGGGCCTCAGGAAAGAGGT CAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGT GAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGAC TCAGGAAAGACATCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACA TCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGT GGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGAGCCTGGGGCCT CAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACAT CAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTG GGCCTGGAGGACTCAGGAAAGACA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0146 a0001c0009t0002g0146	1	456	0.0022	523	c.732 others(538): Show c.732+243_732+244insGGCCTCAGGAAAGAGGTCAGGTTTGGAGTG GGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGAGCTTGGGGCCTC AGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATC AGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGG GCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGGGCCTGGAGGACT CAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTC AGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGA GCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGACTC AGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCA GGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGA GCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGG	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC6A18_chr5_1220381_1251189	1238543	G G	GTCAGGTT others(516): Show GTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGA GTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGG CCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAG GTCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAG TGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGGGCC TCAGGAAAGAGGTCAGGTTTGGAGTGAGCTTGGGGCCTCAGGAAAGAGGT CAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGT GAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGAC TCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGT CAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTG GGCCTGGAGGACTCAGGAAAGACA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0078 a0001c0002t0002g0078	1	456	0.0022	523	c.732 others(538): Show c.732+497_732+498insGGCCTGGAGGACTCAGGAAAGACATCAGGT TTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCC TGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGA AAGAGGTCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTT TGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTG GGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGAGCTTGGGGCCTCAGGAAA GAGGTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTT GGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGG AGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAA GAGGTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTG GAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTG	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SNX9_chr6_157818246_157950077	157827465	A A	AATATATT others(516): Show AATATATTATAGTTTATATAATATATAAAATATATTATAGTTTATATAAT ATATAAAATATATTATAGTTTATATAATATATAAAATATATTATAGTTTA TATAATATATACACATATATTATAGTTTATATAATATATACACATATATT ATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACA CATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAA TATATACACATATATTATAGTTTATATAATATATACACATATATTATAGT TTATATAATATATACACATATATTATAGTTTATATAATATATAAACATAT ATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATAT AAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATA TAATATATAAACATATATTATAGTTTATATAATATATAAACATATATTAT AGTTTATATAATATATAAACATAT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA19000.hp2 NA18952.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0174 a0001c0004t0001g0173 a0001c0001t0001g0174 a0001c0004t0001g0173	2	302	0.0066	523	c.12+ others(538): Show c.12+4019_12+4020insATATATTATAGTTTATATAATATATAAAAT ATATTATAGTTTATATAATATATAAAATATATTATAGTTTATATAATATA TAAAATATATTATAGTTTATATAATATATACACATATATTATAGTTTATA TAATATATACACATATATTATAGTTTATATAATATATACACATATATTAT AGTTTATATAATATATACACATATATTATAGTTTATATAATATATACACA TATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATA TATACACATATATTATAGTTTATATAATATATACACATATATTATAGTTT ATATAATATATAAACATATATTATAGTTTATATAATATATAAACATATAT TATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAA ACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATA ATATATAAACATATATTATAGTTTATATAATATATAAACATAT	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17			chr6	TogoVar
STAB2_chr12_103582273_103771719	103768604	G G	GGGGAGGG others(516): Show GGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTA GGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGACA GGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGACAGGGAGAGGGAGA GAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGGAGAGGGAGGGGAG GGGGAGAGGGGGGAGAGAGAGGGAGGGGGCGGGAGGGGAGGGAGGGGGAG GGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGG AGGGAGAGGGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGGGAGGGGGGA GGGAGAGAGATGGGGGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGA TGGGGGAGGGAGAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGGA GGGAGAGGGAGAGAGAGGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGA GAGAGGGAGAGAGAGGGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0047 a0047	a0047c0143 a0047c0143	a0047c0143t0001 a0047c0143t0001	a0047c0143t0001g0216 a0047c0143t0001g0216	1	256	0.0039	523	c.22 others(534): Show c.2268_*2269insGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAG GGAGAGGGAGGGGTAGGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGG GGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGG ACAGGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGG GGAGAGGGAGGGGAGGGGGAGAGGGGGGAGAGAGAGGGAGGGGGCGGGAG GGGAGGGAGGGGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGGGA GAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGGGAGGGGGGAGGGAGAGAGATGGGGGAGGGGGAGGGAGAGGGATG GGGGAGGGAGAGGGATGGGGGAGGGAGAGGGACAGGGGGAGGGAGAAGGA GAGGGAGAGGGGGGAGGGAGAGGGAGAGAGAGGGAGAGGGAGAGAGAGGG AAAGGGAGTGAGAGAGAGAGGGAGAGAGAGGGAGAGAGA	STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding		1886		chr12	TogoVar
STAB2_chr12_103582273_103771719	103768606	G G	GGAGGGAG others(516): Show GGAGGGAGGGGGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTAGGGG GAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGAGAGGGACAGGGAC AGGGAGAGGGAGAGAGAGGGAGGGAGAGGGAGAGGGAGAGGGACAGGGAG AGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGGAGAGGG AGGGGAGGGGGAGAGGGGGGAGAGAGAGGGAGGGGGCGGGAGGGGAGGGA GGGGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGAGAGGGAGGGA GAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGAGGGAGG GAGGGGGGAGGGAGAGAGATGGGGGAGGGGGAGGGAGAGGGATGGGGGAG GGAGAGGGATGGGGGAGGGAGAGGGACAGGGGGAGGGAGAAGGAGAGGGA GAGGGGGAGGGAGAGGGAGAGAGAGGGAGAGGGAGAGAGAGGGAAAGGGA GTGAGAGAGAGAGGGAGAGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG01106.hp2 HG01346.hp1 others(1): Show HG00733.hp1 HG01106.hp2 HG01346.hp1 HG01346.hp2	a0001 a0023 a0001 a0023	a0001c0014 a0001c0088 a0023c0072 a0001c0014 a0001c0088 a0023c0072	a0001c0014t0001 a0001c0088t0001 a0023c0072t0001 a0001c0014t0001 a0001c0088t0001 a0023c0072t0001	a0001c0014t0001g0180 a0001c0014t0001g0194 a0001c0088t0001g0113 others(1): Show a0001c0014t0001g0180 a0001c0014t0001g0194 a0001c0088t0001g0113 a0023c0072t0001g0041	4	256	0.0156	523	c.22 others(534): Show c.2270_*2271insGAGGGAGGGGGAGGGGGGACAGGGAGGGAGGGAG AGGGAGGGGTAGGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAG GAGAGGGACAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGAGAGG GAGAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGG GGAGGGGGGAGAGGGAGGGGAGGGGGAGAGGGGGGAGAGAGAGGGAGGGG GCGGGAGGGGAGGGAGGGGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAG GGAGAGAGGGAGGGAGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAG GGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGATGGGGGAGGGGGAGGG AGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGACAGGGGGAG GGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGAGAGAGAGGGAGAGGGAG AGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGAGAGGGA	STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding		1888		chr12	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(516): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGAAAG GAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGA AGGAGGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGGGGGAGG AAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGA GGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGG GAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAA AGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAG GAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGAAAGGAAGGAGGGA GGAAAGGAAGGAGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0314 a0001c0001t0035g0314	1	322	0.0031	523	c.597 others(540): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTCCTTT CCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCC TCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCCTC CCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCT TCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTC CCCCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTT CCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCC TCCCTCCTTCCTTTCCTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTC CCTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
SUFU_chr10_102498972_102638535	102637474	A A	ATTATATA others(516): Show ATTATATATTATATAACTATATATTATATATAATATATATATTATATATT ATATAACTATATATTATATATATTATATATTATATAACTATATATTATAT ATAATATATATATTATATATTATATAACTATATATTATATATAATATATA TATTATATATTATATAACTATATATTATATATAATATATATATTATATAA CTATATATTATATATAATATATATATTATATATTATATAACTATATATTA TATATAATATATATATTATATATTATATAACTATATATTATATATAATAT ATATATTATATATTATATAACTATATATTATATATAATATATATATTATA TATTATATAACTATATATTATATATAATATATATATTATATATTATATAA CTATATATTATATATAATATATATTATATATTATATAACTATATATTATA TATAATATATATATTATATATTATATAACTATATATTATATATAATATAA CTATATATTATATATAATATATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0249 a0001c0001t0013g0249	1	268	0.0037	523	c.73 others(534): Show c.7319_*7320insTTATATATTATATAACTATATATTATATATAATA TATATATTATATATTATATAACTATATATTATATATATTATATATTATAT AACTATATATTATATATAATATATATATTATATATTATATAACTATATAT TATATATAATATATATATTATATATTATATAACTATATATTATATATAAT ATATATATTATATAACTATATATTATATATAATATATATATTATATATTA TATAACTATATATTATATATAATATATATATTATATATTATATAACTATA TATTATATATAATATATATATTATATATTATATAACTATATATTATATAT AATATATATATTATATATTATATAACTATATATTATATATAATATATATA TTATATATTATATAACTATATATTATATATAATATATATTATATATTATA TAACTATATATTATATATAATATATATATTATATATTATATAACTATATA TTATATATAATATAACTATATATTATATATAATATATAG	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3940		chr10	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(516): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCGG GGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGGAGAACGG GGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGGTGGGAGAACGGGG TGGGGGTGGGAGGGGGTGGGAGAACGGGGTGGGAGCGAGGTGGGAGAACG GGGTGAGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAACGGG GAGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGA GAGAGCGGGGTGGGGGAACGGGGTGAGAGCGGGGTGGGGGAACGGGGAGA GAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGA GCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGC GGGGTGGGAGCGGGGTGGGAGAAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0001 a0009c0011t0001	a0009c0011t0001g0111 a0009c0011t0001g0111	1	364	0.0028	523	c.157 others(542): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGC TCCCACCCCGTTCTCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTC CCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCTC TCCCCGTTCCCCCACCCCGCTCTCACCCCGTTCCCCCACCCCGCTCTCTC CCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCCTCCC CGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCTCACCCCG TTCTCCCACCTCGCTCCCACCCCGTTCTCCCACCCCCTCCCACCCCCACC CCGTTCTCCCACCCCTCCCACCCTGCTCTCCCACCCCGCTCTCCCACCCC GTTCTCCCACCCCGCTGTCCCACCCCGCTCTCACCCCGTTCTCCCACCCC GCTCCCACCCCCACCCCGTTCTCCCACCCCGTTCTCCCACCCCGCTCCCA CCCCCACCCCGTTCTCCCACCCCGTTCTCCCACCCCGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
TCF25_chr16_89868592_89916379	89884880	C C	CCCTCTCC others(516): Show CCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCT CTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGAC GCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCC TCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGA CGCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCTCTC CGTCTGCCTGACGCCCTCTCCGTCTGCCTGACGCCCTCTCCGTCTGCCTG ACGCCCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACCCCCTCTCCC TCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTG ACGCCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCT CCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCT GACGCCCTCTCCCTCTGCCTGACG	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	300	0.0033	523	c.429 others(538): Show c.429+226_429+227insTCTCCCTCTGCCTGACGCCCTCTCCCTCTG CCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCC CTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCT GCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCC CCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCCTCTCCCT CTGCCTGACGCCCTCTCCGTCTGCCTGACGCCCTCTCCGTCTGCCTGACG CCCTCTCCGTCTGCCTGACGCCCTCCCTCTGCCTGACGCCCTCTCCCTCT GCCTGACCCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGC CCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCTCTCCC TCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGAC GCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCC	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
THEG_chr19_356747_381026	376691	T T	TGTGCCCC others(516): Show TGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCAGCCTCTCCCCC TCTGTGCCCCACCCAGCCTCTCCCCCCCTGTGCCCCACCCAGCCTCTCCC CCTCTGTACCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTC CCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCACCCAGCCT CTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGC CTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCA GCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCAC CCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCC CACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTAC CCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGT GCCCCACCCAGCCTCTCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0096 a0001c0001t0005g0096	1	370	0.0027	523	c.-72 others(532): Show c.-722_-721insGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAG AGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGG AGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGG GGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAG AGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCAC AGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGC ACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGG GCACAGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGT GGGGTACAGAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGG GTGGGGCACAGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCT GGGTGGGGCACGGGGGGGGAGAGGCTGGGTGGGGCAC	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		666		chr19	TogoVar
TMTC2_chr12_82681906_83139866	82900745	T T	TGTATATA others(516): Show TGTATATACATATCCGGAATATAGATCTGTAGGAATGTATATACATATCC GGAATATAGATATGTAGGAATGTATATACATATCCGGAATATAGATCTGT AGGAATGTATATACATATCCGGAATATAGATATGTAGGAATGTATATACA TATCCGGAATATAGATCTGTAGGAATGTATATACATATCCGGAATATAGA TCTGTAGGAATGTATATACATATCCGGAATATAGATATGTAGGAATGTAT ATACATATCCGGAATATAGATATGTAGGAATGTATATACATATCCGGAAT ATAGATATGTAGGAATGTATATACATATCCGGAATATAGATATGTAGGAA TGTATATACATATCCGGAATATAGATATGTAGGAATGTATATACATATCC GGAATATAGATATGTAGGAATGTATATACATATCCGGAATATAGATATGT AGGAATGTATATACATATCCGGAATATAGATATGTAGGAATGTATATACA TATCCGGAATATAGATATGTAGGA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0060 a0001c0001t0010g0060	1	96	0.0104	523	c.148 others(542): Show c.1483+4099_1483+4100insGTATATACATATCCGGAATATAGATC TGTAGGAATGTATATACATATCCGGAATATAGATATGTAGGAATGTATAT ACATATCCGGAATATAGATCTGTAGGAATGTATATACATATCCGGAATAT AGATATGTAGGAATGTATATACATATCCGGAATATAGATCTGTAGGAATG TATATACATATCCGGAATATAGATCTGTAGGAATGTATATACATATCCGG AATATAGATATGTAGGAATGTATATACATATCCGGAATATAGATATGTAG GAATGTATATACATATCCGGAATATAGATATGTAGGAATGTATATACATA TCCGGAATATAGATATGTAGGAATGTATATACATATCCGGAATATAGATA TGTAGGAATGTATATACATATCCGGAATATAGATATGTAGGAATGTATAT ACATATCCGGAATATAGATATGTAGGAATGTATATACATATCCGGAATAT AGATATGTAGGAATGTATATACATATCCGGAATATAGATATGTAGGA	TMTC2	ENSG00000179104.9	transcript	ENST00000321196.8	protein_coding	3/11			chr12	TogoVar
TP53AIP1_chr11_128930370_128947871	128930666	C C	CAGGGGTT others(516): Show CAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGG GTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTT AGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGA GACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGC CGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCGGGGTTAGGGAGACCAAGG GTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTA GGGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGG AGGCCGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCAGGGGTTAGGGAGGC CAGGGTAGGGAGGCTGGGGGTTAGGAAGGCCGGGGTTAGGGAGACCAAGG GTCAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTA GGGAGGCCGGGGTTAGAGAGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG02129.hp2 NA18953.hp1 others(1): Show HG00423.hp2 HG02129.hp2 NA18953.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0056 a0001c0001t0004g0024 a0001c0001t0001g0056 a0001c0001t0004g0024	4	466	0.0086	523	c.49 others(534): Show c.4924_*4925insTGGCCTCTCTAACCCCGGCCTCCCTAACCCCGGC CTCCCTAACCCCGGCCTCCCTAACCCCTGGCCTCCCTGACCCTTGGTCTC CCTAACCCCGGCCTTCCTAACCCCCAGCCTCCCTACCCTGGCCTCCCTAA CCCCTGGCCTCTCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCC TGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCCCTAACCCCGGC CTCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTC CCTAACCCCGGCCTCTCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAA CCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCC CGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCC TCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCAGCCTCC CTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCT	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4703		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930739	G G	GCTGGGGT others(516): Show GCTGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCC GGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGACCAAGGG TCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAG AGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGA GGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGACCA AGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGG TTAGAGAGGCCAGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTA GGGAGGCCGGGGTTATGGAGGCAGGGATTATGGAGGCAGGGATTAGGGAG GCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGG GGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTT AGGGAGACCAAGGGTCAGGGAGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	466	0.0022	523	c.48 others(534): Show c.4851_*4852insGCCTCCCTGACCCTTGGTCTCCCTAACCCCAGCC TCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCC TAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGCCTCCCTAATC CCTGCCTCCATAATCCCTGCCTCCATAACCCCGGCCTCCCTAACCCCGGC CTCCCTAACCCCTGGCCTCCCTAACCCCTGGCCTCTCTAACCCCGGCCTC CCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCT AACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCC CTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCTCTAACCCCGG CCTCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCT CCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTA ATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCAG	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4630		chr11	TogoVar
UBR1_chr15_42937897_43111038	43076800	A A	AGCCGCCC others(516): Show AGCCGCCCCGTCCGGGAGGTGAGGGGCTCCTTTGCCCGGCCGCCCCTACT GGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCGTCCAGGAGGGAG GTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAG GGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCACC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGG CCAGCCGCCCTATCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGCGGGGGGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCCCGCCCGGCCG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0003 a0001c0019t0003	a0001c0019t0003g0113 a0001c0019t0003g0113	1	276	0.0036	523	c.418 others(540): Show c.418-1712_418-1711insCGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGACCCCCCCCCCCCCCGCCTCCCT CCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCTGGATAGGGCGGCTGGCCGG GCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTG GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCA CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCC CTCCTGGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAAAGGAGCCCCTCACCTCCCGGACGGGGCGGC	UBR1	ENSG00000159459.12	transcript	ENST00000290650.9	protein_coding	3/46			chr15	TogoVar
UCN3_chr10_5359966_5379692	5370413	G G	GTGTATAT others(516): Show GTGTATATGCGTGTGTATATGTGTGTATGTGTGTGTATATGTGTGTGTAT ATGCGTGTGTGTATGCGTGTGTATATGTGTGTGTGTATGTGTGTGTGTAT ATGTGTGTGTATGTGTGTATGTGTGTGTATATGTGTGTGTATGTGTGTGT ATATGCGTGTGTATATGTGTATGTGTGTGTATGTGTGTGTATATGTGTGT ATATGTGTGTGTATGTGTGTATGTGTGTGTATATGTGTGTGTATGTGTGT GTGTATATGTGTGTGTGTATGTGTGTGTATGTGTGTGTGTATGTGTGTGT GTATATGTGTGTATATGTGTGTGTATGTGTGTGTGTATGTGTGTGTGTAT ATGTGTGTGTATATGCGTGTGTATATGCGTGTGTGTGTATGTGTGTGTAT GTGTGTGTATGTGTGTGTATGTGTGTGTGTGTATGTGTGTGTGTATGTGT GTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTTCATGT GTATGTGTGTAAGGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0405 a0001c0002t0005g0405	1	468	0.0021	523	c.-6- others(538): Show c.-6-3299_-6-3298insATATGCGTGTGTATATGTGTGTATGTGTGT GTATATGTGTGTGTATATGCGTGTGTGTATGCGTGTGTATATGTGTGTGT GTATGTGTGTGTGTATATGTGTGTGTATGTGTGTATGTGTGTGTATATGT GTGTGTATGTGTGTGTATATGCGTGTGTATATGTGTATGTGTGTGTATGT GTGTGTATATGTGTGTATATGTGTGTGTATGTGTGTATGTGTGTGTATAT GTGTGTGTATGTGTGTGTGTATATGTGTGTGTGTATGTGTGTGTATGTGT GTGTGTATGTGTGTGTGTATATGTGTGTATATGTGTGTGTATGTGTGTGT GTATGTGTGTGTGTATATGTGTGTGTATATGCGTGTGTATATGCGTGTGT GTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTGTGTAT GTGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGT ATGTGTGTGTTCATGTGTATGTGTGTAAGGTGTGTGTGTATGT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
ULK4_chr3_41241599_41967103	41890887	G G	GGAAGGGA others(516): Show GGAAGGGACAGGAGGGGGAAGGAAGGGACAGGAGGGGGAAGGAAGGGACA GGAGGGGGAAAGAAGGGACGGGAGGGGGAAGGAAGGGACAGGAGGGGGAA AGAAGGGACGGGAGGGGGAAAGAAGGGACGGGAGGGGGAAAGAAGGGACG GGAGGGGGAAGGAAGGGACAGGAGGGGGAAAGAAGGGACGGGAGGGGGAA AGAAGGGACGGGAGGGGGAAAGAAGGGACGGGAGGGGGAAGGAAGGGACG GGAGGGGGAAAGAAGGGACGGGAGGGGGAAAGAAGGGACGGGAGGGGGAA AGAAGGGACGGGAGGGGGAAAGAAGGGACGGGAGGGGGAAAGAAGGGACG GGAGGGGGGAAGGAAGGGACGGGAGGGGGAAGGAAGGGACGGGAGCGGGG AAGGAAGGGACAGGAGGGGGAAAGAAGGGACGGGAGGGGGAAAGAAGGGA CGGGAGGGGGAAAGAAGGGACGGGAGGGGGAAAGAAGGGACGGGAGGGGG GAAGGAAGGGACAGGAGGGGGAAA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	72	0.0139	523	c.157 others(542): Show c.1577+4630_1577+4631insTTTCCCCCTCCTGTCCCTTCCTTCCC CCCTCCCGTCCCTTCTTTCCCCCTCCCGTCCCTTCTTTCCCCCTCCCGTC CCTTCTTTCCCCCTCCCGTCCCTTCTTTCCCCCTCCTGTCCCTTCCTTCC CCGCTCCCGTCCCTTCCTTCCCCCTCCCGTCCCTTCCTTCCCCCCTCCCG TCCCTTCTTTCCCCCTCCCGTCCCTTCTTTCCCCCTCCCGTCCCTTCTTT CCCCCTCCCGTCCCTTCTTTCCCCCTCCCGTCCCTTCTTTCCCCCTCCCG TCCCTTCCTTCCCCCTCCCGTCCCTTCTTTCCCCCTCCCGTCCCTTCTTT CCCCCTCCCGTCCCTTCTTTCCCCCTCCTGTCCCTTCCTTCCCCCTCCCG TCCCTTCTTTCCCCCTCCCGTCCCTTCTTTCCCCCTCCCGTCCCTTCTTT CCCCCTCCTGTCCCTTCCTTCCCCCTCCCGTCCCTTCTTTCCCCCTCCTG TCCCTTCCTTCCCCCTCCTGTCCCTTCCTTCCCCCTCCTGTCCCTTC	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	16/36			chr3	TogoVar
VCX3B_chrX_8459830_8471510	8466987	G G	GAGAGGTG others(516): Show GAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAG GAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGT GTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGGAGGGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0006 a0006	a0006c0043 a0006c0043	a0006c0043t0002 a0006c0043t0002	a0006c0043t0002g0006 a0006c0043t0002g0006	1	271	0.0037	523	c.60 others(532): Show c.604_*605insAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGA	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		478		chrX	TogoVar
VWA2_chr10_114234254_114299489	114253215	C C	CTCCCCAT others(516): Show CTCCCCATCCTCTCCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCTCCCCTCCCCTCTCCCC TCTTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCC CCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCCTCCCCCTCTCC CCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTCT CCCCCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCC TCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCTCTCCCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCT CCCCCTCCCCCTCCCCCTCTCCCCCCTCCCCCTCCCCTCCCCCTCTCCCC CTCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTCCCTCTCCCTCTCCCCCC CCTCCCCCCTCCCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0087 a0001c0001t0007g0087	1	246	0.0041	523	c.53- others(536): Show c.53-436_53-435insTCCCCATCCTCTCCCCCTCCCCCCTCCCTCCC CCTCCCCTCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCC TCCCCTCCCCTCTCCCCTCTTCCCCTCTCCTCCTCTCCCCTCCTCTCCCC TCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTC TCCCCCTCCCCCTCTCCCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTC CCCTCCCCCTCTCCTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCCCCTCC CCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCTCCCCCCCTCCCCCTCCC CCTCCCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCCTCCCCCT CCCCTCCCCCTCTCCCCCTCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTC CCTCTCCCTCTCCCCCCCCTCCCCCCTCCCCCCCTCCCCCT	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13			chr10	TogoVar
WDR64_chr1_241647281_241807777	241675052	T T	TGCCTCCC others(516): Show TGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTT CCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTC CCTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCC TCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTGCCTCCCT CCCTCCCTCCTGCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTT CCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTC CCTCCTGCCTCCCTCCCTCCCTCC	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0200 a0001c0002t0002g0200	1	326	0.0031	523	c.483 others(538): Show c.483+305_483+306insGCCTCCCTCCCTCCCTCCTGCCTCCCTCCC TCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTT CCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTC CCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCTTCCTGCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTCCCTCCCTCCC TCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCT CCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTT CCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTC CCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27			chr1	TogoVar
WDR64_chr1_241647281_241807777	241675052	T T	TTCCTCCC others(516): Show TTCCTCCCTCCTTCCTTCCTCACTCCCTCCTTCCTTCCTCCCTCCCTCCT TCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTCCCTCCCT CCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCCTCCTT CCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTC CCTCCTTCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCC CTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCC TGCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCC TCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCT CCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTG CCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTC CTTCCTTCCTCCCTCCCTCCTTCC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0013 a0013	a0013c0031 a0013c0031	a0013c0031t0003 a0013c0031t0003	a0013c0031t0003g0228 a0013c0031t0003g0228	1	326	0.0031	523	c.483 others(538): Show c.483+306_483+307insCCTCCCTCCTTCCTTCCTCACTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTC CCTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCC CTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCC CTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTGCCTCCC TCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCT GCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCTTCCTCCCTCCCTCCCT CCTTCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTC CCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGC CTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCC CTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCT	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
WDR87_chr19_37879823_37911594	37881029	T T	TATATATA others(516): Show TATATATATTATATATATATATATATAATATATATATATTATATATATAT ATAATATATATATATTATATATATAATATATATATATTATATATATAATA TATATATATTATATATATATATAATATATATAATATATATATAATATATA TATATTATATATATATTATATATATTATATATATTATATATATATTATAT ATATATAATATATATATAATATATATAATATATATATAATATATATTATA TATATAATATATATATATTATATATATAATATATATATTTAATATATATA TTATATATATAATATATATTATATATATAATATATATATTTAATATATAT TATATATATAATATATATATTATATATATAATATATATATAATATATATA TTATATATATAATATATATATAATATATATATTATATATATAATATATAT ATTATATATATAATATATATATTTAATATATATAATATATATAATATATA TTATATATATAATATATATATTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0001 a0010c0011t0001	a0010c0011t0001g0034 a0010c0011t0001g0034	1	330	0.0030	523	c.39 others(534): Show c.3902_*3903ins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	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3793		chr19	TogoVar
WDR87_chr19_37879823_37911594	37881138	T T	TATATATT others(516): Show TATATATTATATATATAATATATATATAATATATATATATTATATATATT ATATATATTATATATATTATATATATATTATATATATATTATATATATAT AATATATATAATATATATATAATATATATATTATATATATAATATATATA TATTATATATATAATATATATATTTAATATATATATTATATATAATATAT ATTATATATATAATATATATATTTAATATATATTATATATATAATATATA TATTATATATATAATATATATTTAATATATATATTATATATATAATATAT ATATTATATATATATAATATATATATTTAATATATATATTATATATATAA TATATATTATATATATAATATATATATTTAATATATATTATATATATAAT ATATATATTATATATATAATATATATATAATATATATATTATATATATAA TATATATATTATATATATATTATATATATATTATATATATTATATATATA TTATATATATATATAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0003 a0003	a0003c0045 a0003c0045	a0003c0045t0003 a0003c0045t0003	a0003c0045t0003g0156 a0003c0045t0003g0156	1	330	0.0030	523	c.37 others(534): Show c.3793_*3794insCTCTCTCTCTATATATATATATAATATATATATA ATATATATAATATATATATAATATATATATAATATATATATTATATATAT AATATATATATTATATATATATTATATATATAATATATATATTATATATA TAATATATATTAAATATATATATTATATATATAATATATATTATATATAT AATATATATATTAAATATATATATTATATATATATAATATATATATTATA TATATAATATATATATTAAATATATATTATATATATAATATATATATTAT ATATATAATATATATTAAATATATATATTATATATATAATATATATTATA TATAATATATATATTAAATATATATATTATATATATAATATATATATATT ATATATATAATATATATATTATATATATATTATATATATTATATATATAT AATATATATATAATATATATATAATATATATAATATATATAATATATATA ATATATATATATTATATATATATTATATATATAATATAT	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3684		chr19	TogoVar
ZNF365_chr10_62369369_62407450	62370782	C C	CATCATAT others(516): Show CATCATATACATCATATACATCATATACATCATATATCACACATATGATA TATACATCATATATCACACATATGATATATACATCATATATCACACATAT GATATATACATCATATATCACACATATGATATACATCATATATCACACAT ATGATATACATCATATATCACACATATGATATACATCATATATCACACAT ATGATATACATCATATATCACACATATGATATACATCATATATCACACAT ATGATATACATCATATATCACACATATGATATACATCATATATCACACAT ATGATATACATCATATATCACACATATGATATACATCATATATCACACAT ATGATATACATCATATATCACACATATGATATACATCATATATCACACAT ATGATATATATCATATATCACACATATGATATATATCATACATATCACAT ATATCATATATATCATACATATCACATATATCATATATATCATACATATC ACATATATGATATATATCATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0090 a0002c0002t0001g0090	1	350	0.0029	523	c.-36 others(534): Show c.-3690_-3689insATCATATACATCATATACATCATATACATCATAT ATCACACATATGATATATACATCATATATCACACATATGATATATACATC ATATATCACACATATGATATATACATCATATATCACACATATGATATACA TCATATATCACACATATGATATACATCATATATCACACATATGATATACA TCATATATCACACATATGATATACATCATATATCACACATATGATATACA TCATATATCACACATATGATATACATCATATATCACACATATGATATACA TCATATATCACACATATGATATACATCATATATCACACATATGATATACA TCATATATCACACATATGATATACATCATATATCACACATATGATATACA TCATATATCACACATATGATATATATCATATATCACACATATGATATATA TCATACATATCACATATATCATATATATCATACATATCACATATATCATA TATATCATACATATCACATATATGATATATATCATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3586		chr10	TogoVar
ZNF85_chr19_20918251_20955697	20919189	A A	ATACAAGT others(516): Show ATACAAGTATATATATATACTTGTATATATATACAAGTATATATATACTT GTATACATATATACTATATATATACATATATACACATATATACGTATATA TATGTATATATACGTATATACATGTATATACACGTATATACATGTATATA TATGTATATACACATATATACATGTATATATACGTATATATACACATATA TACATGTATATATATACGTATATATACACATATATACATGTATATATATA CGTATATATACACGTATATATACACGTATATACATGTATATATATATACG TATATATACGTGTATATATATATACGTATATATACGTATATATACGTGTA TATATATACGTATATATACGTATATATACGTGTATATATATACGTATATA TACGTATATATATACGTGTATATATATACGTATATATACGTATATATACG TATATATACATATATACATGTATATATATATACGTATATACACATATATA TACATGTATATATATATGTGTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	383	0.0026	523	c.-42 others(534): Show c.-4212_-4211insTACAAGTATATATATATACTTGTATATATATACA AGTATATATATACTTGTATACATATATACTATATATATACATATATACAC ATATATACGTATATATATGTATATATACGTATATACATGTATATACACGT ATATACATGTATATATATGTATATACACATATATACATGTATATATACGT ATATATACACATATATACATGTATATATATACGTATATATACACATATAT ACATGTATATATATACGTATATATACACGTATATATACACGTATATACAT GTATATATATATACGTATATATACGTGTATATATATATACGTATATATAC GTATATATACGTGTATATATATACGTATATATACGTATATATACGTGTAT ATATATACGTATATATACGTATATATATACGTGTATATATATACGTATAT ATACGTATATATACGTATATATACATATATACATGTATATATATATACGT ATATACACATATATATACATGTATATATATATGTGTATG	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4061		chr19	TogoVar
AFF2_chrX_148495617_149005663	148581415	T T	TACACGTA others(517): Show TACACGTATATACGTATACGTGTACACACATATATATACACGTATATATA CGTATACGTGTACACACACACACGTATATATACGTATACGTGTACACACA CACGTATATATACGTATACGTGTACACACACACGTATATATACGTATACG TGTACACACACACGTATATATACGTATACGTGTACACACACACGTATATA TACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACACA CACGTATATACGTATACGTGTACACACATACACGTATATACGTATACGTG TACACACACATACACGTATATACGTCTACGTGTACACACACATACACGTC TACGTGTACACACACATACACGTCTACGTGTACACACACATACACGTCTA CGTGTACACACACATACACGTCTACGTGTACACACACATACACGTCTACG TGTACACACATATACACGTATACGTCTACGTGTACACACATATACACGTA TACGTCTACGTGTACACACATATAC	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	169	0.0059	524	c.48- others(541): Show c.48-70582_48-70581insACGTATATACGTATACGTGTACACACAT ATATATACACGTATATATACGTATACGTGTACACACACACACGTATATAT ACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACACAC ACGTATATATACGTATACGTGTACACACACACGTATATATACGTATACGT GTACACACACACGTATATATACGTATACGTGTACACACACACGTATATAT ACGTATACGTGTACACACACACGTATATACGTATACGTGTACACACATAC ACGTATATACGTATACGTGTACACACACATACACGTATATACGTCTACGT GTACACACACATACACGTCTACGTGTACACACACATACACGTCTACGTGT ACACACACATACACGTCTACGTGTACACACACATACACGTCTACGTGTAC ACACACATACACGTCTACGTGTACACACATATACACGTATACGTCTACGT GTACACACATATACACGTATACGTCTACGTGTACACACATATACAC	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
ANKLE2_chr12_132720503_132766832	132759517	A A	ATATGATA others(517): Show ATATGATATGTGCTATATGATATACACGTATCATATGCCATGATATACGT ATATTATACATCATATATAAAAACATATTTTTATATAAAATATCAGTATT TTATGTATATTATATGTGCTATATGATATACACGTATCATATGCCATGAT ATACGTATATTATACATCATATATAAAAACATATTTTTATATAAAATATC AGTATTTTATGTATACTATATGTGCTATATGATATACACGTATCATATGC CATGATATACGTATATTATACATCATATATAAAAACATATTTTTATATAA AATAAATCAGTATTTTATGTATATTATATGTGCTATATGATATACACGTA TCATATGCCATGATATACGTATATTATACATCATATATAAAAACATATTT TTATATAAAATATCAGTATTTTATGTATACTATATGTGCTATATGATATA CACGTATCATATGCCATGATATACGTATATTATACATCATATATAAAAAC ATTTTTATATAAAATATCAGTATTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	350	0.0029	524	c.181 others(541): Show c.181+2100_181+2101insAAATACTGATATTTTATATAAAAATGTT TTTATATATGATGTATAATATACGTATATCATGGCATATGATACGTGTAT ATCATATAGCACATATAGTATACATAAAATACTGATATTTTATATAAAAA TATGTTTTTATATATGATGTATAATATACGTATATCATGGCATATGATAC GTGTATATCATATAGCACATATAATATACATAAAATACTGATTTATTTTA TATAAAAATATGTTTTTATATATGATGTATAATATACGTATATCATGGCA TATGATACGTGTATATCATATAGCACATATAGTATACATAAAATACTGAT ATTTTATATAAAAATATGTTTTTATATATGATGTATAATATACGTATATC ATGGCATATGATACGTGTATATCATATAGCACATATAATATACATAAAAT ACTGATATTTTATATAAAAATATGTTTTTATATATGATGTATAATATACG TATATCATGGCATATGATACGTGTATATCATATAGCACATATCATA	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
APOOL_chrX_84998877_85098315	85088046	G G	GTATTTAT others(517): Show GTATTTATACATATATGTATAAATACGTATTAATACATATATGTATAAAT ACGTATTAATACATATATGTATAAATACATACATATTTATACATATATGT ATACATACATATTTATACATATATATGTATAAATACATACATATTTATAC ATATATATGTATAAATACGTACATATTTATACATATATATGTATAAATAC GTACATATTTATACATATATATGTATAAATACGTACATATTTATACATAT ATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGTAC ATATTTATACATATATATGTATAAATACGTACATATTTATACATATATAT GTATAAATACGTACATATTTATACATATATATGTATAAATACGTACATAT TTATACATATATATGTATAAATACGTACATATTTATACATATATGTATAA ATACATATACATATTTATACATATATGTATAAATACATATACATATTTAT ACATATATGTATAAATACATATACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0118 a0001c0001t0118	a0001c0001t0118g0066 a0001c0001t0118g0066	1	256	0.0039	524	c.39 others(533): Show c.393_*394insGTATTAATACATATATGTATAAATACGTATTAATAC ATATATGTATAAATACATACATATTTATACATATATGTATACATACATAT TTATACATATATATGTATAAATACATACATATTTATACATATATATGTAT AAATACGTACATATTTATACATATATATGTATAAATACGTACATATTTAT ACATATATATGTATAAATACGTACATATTTATACATATATATGTATAAAT ACGTACATATTTATACATATATATGTATAAATACGTACATATTTATACAT ATATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGT ACATATTTATACATATATATGTATAAATACGTACATATTTATACATATAT ATGTATAAATACGTACATATTTATACATATATGTATAAATACATATACAT ATTTATACATATATGTATAAATACATATACATATTTATACATATATGTAT AAATACATATACATATTTATACATATATGTATAAATAC	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	9/9	394	INFO_REALIGN_3_PRIME	chrX	TogoVar
APOOL_chrX_84998877_85098315	85088071	C C	CGTATTTA others(517): Show CGTATTTATACATATATGTATAAATACGTATTAATACATATATGTATAAA TACATACATATTTATACATATATGTATACATACATATTTATACATATATA TGTATAAATACATACATATTTATACATATATATGTATAAATACATACATA TTTATACATATATATGTATAAATACATACATATTTATACATATATATGTA TAAATACGTACATATTTATACATATATATGTATAAATACGTACATATTTA TACATATATATGTATAAATACGTACATATTTATACATATATATGTATAAA TACGTACATATTTATACATATATATGTATAAATACGTACATATTTATACA TATATATGTATAAATACGTACATATTTATACATATATGTATAAATACATA TACATATTTATACATATATGTATAAATACATATACATATTTATACATATA TGTATAAATACATATACATATATGTATAAATACATATACATATTTATACA TATATGTATAAATACATATACATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0212 a0001c0001t0029g0213 a0001c0001t0029g0212 a0001c0001t0029g0213	2	256	0.0078	524	c.39 others(533): Show c.393_*394insGTATTTATACATATATGTATAAATACGTATTAATAC ATATATGTATAAATACATACATATTTATACATATATGTATACATACATAT TTATACATATATATGTATAAATACATACATATTTATACATATATATGTAT AAATACATACATATTTATACATATATATGTATAAATACATACATATTTAT ACATATATATGTATAAATACGTACATATTTATACATATATATGTATAAAT ACGTACATATTTATACATATATATGTATAAATACGTACATATTTATACAT ATATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGT ACATATTTATACATATATATGTATAAATACGTACATATTTATACATATAT GTATAAATACATATACATATTTATACATATATGTATAAATACATATACAT ATTTATACATATATGTATAAATACATATACATATATGTATAAATACATAT ACATATTTATACATATATGTATAAATACATATACATAT	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	9/9	394		chrX	TogoVar
ATP13A3_chr3_194397677_194492002	194421136	A A	ATATATAG others(517): Show ATATATAGTTTATATATATATAGTTTATATATATATACTATATATATAGT TTATATATACTATATATATAGTTTATATATATATACTATATATAGTTTAT ATATATATACTATATATAGTATATATATACTATATATATACTATATATAT AGTTTATATATATATACTATATATATAGTTTATATATATACTATATATAT AGTTTATATATATACTATATATATAGTTTATATATATACTATATATATAG TTTATATATATATACTATATATATAGTTTATATATATATACTATATATAT AGTATATATATATATAAACTATATATATAGTTTATATATATATAAACTAT ATATATAGTTTATATATATATATACTATATATATAGTTTATATATATATA CTATATATATAGTTTATATATATATATACTATATATATAGTTTATATATA TATACTATATATATAGTTTATATATATATATACTATATATATAGTTTATA TATATATATACTATATATATAGTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19043.hp2 NA19030.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0190 a0001c0001t0011g0295 a0001c0001t0002g0190 a0001c0001t0011g0295	2	304	0.0066	524	c.331 others(543): Show c.3314-1170_3314-1169insAAACTATATATATAGTATATATATAT ATAAACTATATATATAGTATATATATATATAAACTATATATATAGTATAT ATATATAAACTATATATATAGTATATATATATATAAACTATATATATAGT ATATATATATAAACTATATATATAGTATATATATATATAAACTATATATA TAGTTTATATATATATAAACTATATATATAGTTTATATATATATATACTA TATATATAGTATATATATATAAACTATATATATAGTATATATATATAAAC TATATATATAGTATATATATAAACTATATATATAGTATATATATAAACTA TATATATAGTATATATATAAACTATATATATAGTATATATATATAAACTA TATATATAGTATATATATAGTATATATATACTATATATAGTATATATATA TAAACTATATATAGTATATATATATAAACTATATATATAGTATATATAAA CTATATATATAGTATATATATATAAACTATATATATATAAACTATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCGGCCC others(517): Show TGCGGCCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCTGTCCA GGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCC GACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCG GCCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCCAC CCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCC CGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCC CCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTG CGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCAC CCCGCAGCCCCGTCCAGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	391	0.0026	524	c.36 others(535): Show c.3604_*3605insGCGGCCCCCCACCCCGCAGCCCCGTCCAGGCCCC GACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCA GCCCCCACCCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACC CCGCAGCCCTGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAG CCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAG GCCCCGACGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCC CCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGC AGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCC AGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC GCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
AZU1_chr19_822837_837018	835488	A A	AGCCCCCA others(517): Show AGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAG CCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAG GCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGC GTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAG CCCCGTCCAGGCCCCGACGCGTGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	391	0.0026	524	c.36 others(535): Show c.3611_*3612insGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCA GCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCC CGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCG TCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCC GACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCG GCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3471		chr19	TogoVar
AZU1_chr19_822837_837018	835488	A A	AGCCCCCA others(517): Show AGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAG GCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGC GTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAG CCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAG GCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGC GTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAG CCCCGTCCAGGCCCCGACGCGTGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0009 a0001c0002t0001g0009	1	391	0.0026	524	c.36 others(535): Show c.3611_*3612insGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCT CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCC CGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCG TCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCC GACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCG GCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCC CGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCG TCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCC GACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCG GCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3471		chr19	TogoVar
BFSP2_chr3_133395056_133480208	133425964	A A	AGGGGAGG others(517): Show AGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGG GAGGGGAGGGGGATGGGAGGGGGAGGGGAGGGGATGGGAGGGGGAGGGGA GGGGATGGGAGGGGGATGGGAGGGGATGGGAGGGGGAGGGGAGGGGGAGG GGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAG GGGGAAGGGGAGGGGGAGGGGAGGGGGAGGGGAAGGGGAGGGGGAGGGGA GGGGGAGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGAGAGG GAGGGGATGGGGAGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAG GGGAGGGGGAGAGGGAGGGGATGGGGAGGGGGAGGGGAGGGGGGGAGGGG AGGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGAGGGGAGGGGG AGGGGGGAGGGGAGGGGGAGGGGAT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0131 a0001c0002t0001g0131	1	276	0.0036	524	c.490 others(543): Show c.490-21348_490-21347insGGGGGAGGGGGAGGGGAGGGGGAGGG GAGGGGGAGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGGGGAGGGGAGGG GGAGGGGGAGGGGGAGGGGAGGGGAGGGGGATGGGAGGGGGAGGGGAGGG GATGGGAGGGGGAGGGGAGGGGATGGGAGGGGGATGGGAGGGGATGGGAG GGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAG GGGGAGGGGGAGGGGGAGGGGGAAGGGGAGGGGGAGGGGAGGGGGAGGGG AAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGGAGG GGGAGGGGGAGGGAGAGGGAGGGGATGGGGAGGGGAGGGGGAGGGGGAGG GGGGAGGGGGAGGGGGAGGGGAGGGGGAGAGGGAGGGGATGGGGAGGGGG AGGGGAGGGGGGGAGGGGAGGGGGGGAGGGGGAGGGGGAGGGGGAGGGGG AGGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGGATGGGGA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BRD3OS_chr9_134020481_134036587	134025267	C C	CAGCCCCT others(517): Show CAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAGCTCCTCCTCCAACAG CCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCAGCCCCTCCTCCTTCA GCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCAGCCCCTCCTCC TCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTCCAGCCCTTCCTCCTT CAGCCCCTCCTCCTCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTCAT CCAGCCCCTCCTCCTCATCCAGCCCTTCTCCTCTCCCAGCCCCTCCTCTC CCAGCTCCTCCTCCTCCTCCAGCCCCTCCTCCTCTCCCAGCCCCTCCTCC CCAGCTCCTCCTCCTCCAGCCCCTCCTCCTCCTCGCGCAGACCCTCACCA TCCAGCCCCTCCTCCTTCAGCCCCTCCTCCAGCCCTTCCTCCTTCAGCCC CTCCTCCTCCTCCAGCCCCTCCTCCTCCAGCCCTTCCTCCTTCAGCCCTT CCTCCTTCAGCCCCTCCTCCTCCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	334	0.0030	524	c.-10 others(535): Show c.-1056_-1055insAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAG CTCCTCCTCCAACAGCCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCA GCCCCTCCTCCTTCAGCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCC TCCAGCCCCTCCTCCTCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTC CAGCCCTTCCTCCTTCAGCCCCTCCTCCTCCAGCCCCTCCTCCTCCTCCA GCCCCTCCTCCTCATCCAGCCCCTCCTCCTCATCCAGCCCTTCTCCTCTC CCAGCCCCTCCTCTCCCAGCTCCTCCTCCTCCTCCAGCCCCTCCTCCTCT CCCAGCCCCTCCTCCCCAGCTCCTCCTCCTCCAGCCCCTCCTCCTCCTCG CGCAGACCCTCACCATCCAGCCCCTCCTCCTTCAGCCCCTCCTCCAGCCC TTCCTCCTTCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTCCAGCCCTT CCTCCTTCAGCCCTTCCTCCTTCAGCCCCTCCTCCTCCAG	BRD3OS	ENSG00000235106.10	transcript	ENST00000603928.3	protein_coding		213		chr9	TogoVar
C8orf82_chr8_144520733_144534111	144531242	C C	CAGGGCAG others(517): Show CAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGC AGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGC AGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCT AGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGG GAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCA GCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGG CAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAG GGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCA CGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACA TAGCAGGCACGGCAGAAGGGCACAGGGCAGAGAGCAGCAGGTGGGGAGTG GGCTAGACATAGCAGGCACGGCAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0008 a0001c0002t0002g0008	1	398	0.0025	524	c.-23 others(535): Show c.-2327_-2326insTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCA CCTGCTGCTCTCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCC CACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTA TGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCG TGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCC CTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTG CCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGC TGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTC CCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCT AGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCT GCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCT	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2132		chr8	TogoVar
CAPN15_chr16_522712_559636	544746	T T	TCGCCTCC others(517): Show TCGCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGC CTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCC ACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTC GTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCC TCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCC CACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGC CTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCC CCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCC CCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGT CGCCTCCCCCACGTCGCCTCCCCCA	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0169 a0001c0002t0002g0169	1	410	0.0024	524	c.-22 others(541): Show c.-22-2069_-22-2068insCCTCCCCCACGTCGTCGTCTCCCCCACG TCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCT CCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCC ACGTCGCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGT CGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCC CCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTC CCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCT CCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCC CCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCC CACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	544825	C C	CCTCCCCC others(517): Show CCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTC CCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACG TCGCCTCCCCTCACGTCGTCGTCTCCCCCCACGTCGCCTCCCCCACGTCG CCTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTC CCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCT CCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCC CCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCC CACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGT CGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGTCGCC TCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCC CACGTCGCCTCCCCCACGTCGTCGT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0178 a0001c0001t0002g0178	1	410	0.0024	524	c.-22 others(541): Show c.-22-1979_-22-1978insTCGTCTCCCCCACGTCGCCTCCCCCCAC GTCGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCT CCCCCACGTCGCCTCCCCTCACGTCGTCGTCTCCCCCCACGTCGCCTCCC CCACGTCGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTC GCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGT CGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACG TCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTC GCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTC CCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACG TCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGCCTCCCCCACGTCGTCGTCTCCCCCACGTCG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CASZ1_chr1_10631604_10801646	10744731	C C	CACCACGA others(517): Show CACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCA CCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCACC ACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCACCAC GAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCACCACGA GCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCACCACGAGC AGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAG GCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGC ATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCAT GTCCTGGGCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGT CCTGGGCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCC TGGGCACCACGAGCAGGCATGTCCT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0139 a0001c0002t0004g0139	1	236	0.0042	524	c.-77 others(543): Show c.-77+15969_-77+15970insAGGACATGCCTGCTCGTGGTGCCCAG GACATGCCTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGA CATGCCTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACA TGCCTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACATG CCTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACATGCC TGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACATGCCTG CTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACATGCCTGCT CGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACATGCCTGCTCG TGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACATGCCTGCTCGTG GTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGT GCCCAGGACATGCCTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGT	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	2/20			chr1	TogoVar
CBFA2T3_chr16_88869858_88982207	88894454	G G	GCACACAT others(517): Show GCACACATGCACACACACATGCATACATATACACATGCACACAATGTACA CACATGCACGCACACATGCACACACACATGCATACATATACACATGCACA CAATGTACACACATGCACGCACACATGCACACACACATGCATACATATAC ACATGCACACAATGTACACACATGCACGCACACATGCACACACACATGCA TACATATACACATGCACACAATGTACACACATGCACGCACACATGCACAC ACACATGCATACATATACACATGCACACAATGTACACACATGCACGCACA CATGCACACACACATGCATACATATACACATGCACGCACACATGCACACA CACATGCATACATATACACATGCACACAATGTACACACATGCACGCACAC ATGCACACACACATGCATACATATACACATGCACACAATGTACACACATG CACGCACACATGCACACACACATGCATACATATACACATGCACACAATGT ACACACATGCACGCACACATGCACA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	284	0.0035	524	c.380 others(541): Show c.380-1970_380-1969insTGTGCATGTGTGCGTGCATGTGTGTACA TTGTGTGCATGTGTATATGTATGCATGTGTGTGTGCATGTGTGCGTGCAT GTGTGTACATTGTGTGCATGTGTATATGTATGCATGTGTGTGTGCATGTG TGCGTGCATGTGTGTACATTGTGTGCATGTGTATATGTATGCATGTGTGT GTGCATGTGTGCGTGCATGTGTATATGTATGCATGTGTGTGTGCATGTGT GCGTGCATGTGTGTACATTGTGTGCATGTGTATATGTATGCATGTGTGTG TGCATGTGTGCGTGCATGTGTGTACATTGTGTGCATGTGTATATGTATGC ATGTGTGTGTGCATGTGTGCGTGCATGTGTGTACATTGTGTGCATGTGTA TATGTATGCATGTGTGTGTGCATGTGTGCGTGCATGTGTGTACATTGTGT GCATGTGTATATGTATGCATGTGTGTGTGCATGTGTGCGTGCATGTGTGT ACATTGTGTGCATGTGTATATGTATGCATGTGTGTGTGCATGTGTG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	3/11			chr16	TogoVar
CEP72_chr5_607340_658553	650982	C C	CTGTGAGG others(517): Show CTGTGAGGGGTGACTGTGAGGCGTGGACTGTGAGGCGTGGACTGTGAGGT GTGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGA GGTGTGACTGTGAGGCGTGGACTGTGAGGCGTGGACTGTGAGGCGTGGAC TGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGT GACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAG GTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCATGGACTG TGAGGTGTGACTGAGGTGTGACTGAGGTGTGACTGTGAGGCGTGGACTGT GAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGA CTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTG TGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGA GGTGTGACTGAGGTGTGACTGTGGG	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA19007.hp2 NA18963.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0029 a0001c0001t0001g0032	2	91	0.0220	524	c.177 others(543): Show c.1779-1999_1779-1998insGGTGACTGTGAGGCGTGGACTGTGAG GCGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGCGTGGACTG TGAGGTGTGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGCGTGG ACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGG TGTGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTG AGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGAC TGTGAGGCATGGACTGTGAGGTGTGACTGAGGTGTGACTGAGGTGTGACT GTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGT GACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGG CGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGT GAGGCGTGGACTGTGAGGTGTGACTGAGGTGTGACTGTGGGTGTGAGG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(517): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCC CTCCCCCTCCTCTTCCTCCCCCTCTTCCTCCTCTTCCTCCTCCTCTTCCT CCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCC CCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTC TTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0006 a0001c0001t0005g0006	1	270	0.0037	524	c.162 others(545): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCC CCTCCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCTTCC TCCTCTTCCTCCTCCTCTTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCAC TTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTT CCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(517): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCC CTCCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCTTCCT CCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCC CCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTC TTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0039 a0001c0001t0031g0039	1	270	0.0037	524	c.162 others(545): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCC CCTCCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCCCCC TCCTCTTCCTCCCCCTCTTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCAC TTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTT CCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL4A1_chr13_110143963_110312157	110219870	G G	GTATATAT others(517): Show GTATATATATGTATATATATGTGTGTATATATATGTATATATGTGTGTAT ATATATGTATATATATGTGTGTATATATATGTATATACATATGTGTATAT ATGCGTATATATGTATATATATGCGTATATATGTGTATATATGTATATAT GTATATATGTATATATGTGTATATATGTATATATGTGTATATATATGTAT ATATATGTGTGTATATATATGTATATATATGTGTGTATATATATGTATAT ATATGTGTGTATATATATGTATATATATGTGTGTGTATATATGTATATAT ATGTGTGTGTATATATATGTATATATATGTGTGTATATATATGTATATAT ATGTGTGTATATATATGTATATATATGTGTGTATATATATGTATATACAT ATGTGTATATATGCGTATATATGTATATATATGCGTATATATGTGTATAT ATGTATATATGTGTATATATGTATATATATGTATATATGTGTATATGTGT ATATATATGTATATATATGTGTGTA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0001 a0001c0037t0001	a0001c0037t0001g0134 a0001c0037t0001g0134	1	344	0.0029	524	c.145 others(541): Show c.145-5856_145-5855insTACACACATATATATACATATATATACA CATATACACATATATACATATATATACATATATACACATATATACATATA TACACATATATACGCATATATATACATATATACGCATATATACACATATG TATATACATATATATACACACATATATATACATATATATACACACATATA TATACATATATATACACACATATATATACATATATATACACACACATATA TATACATATATACACACACATATATATACATATATATACACACATATATA TACATATATATACACACATATATATACATATATATACACACATATATATA CATATATATACACATATATACATATATACACATATATACATATATACATA TATACATATATACACATATATACGCATATATATACATATATACGCATATA TACACATATGTATATACATATATATACACACATATATATACATATATATA CACACATATATACATATATATACACACATATATATACATATATATA	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	2/51			chr13	TogoVar
CRLF2_chrX_1185490_1217649	1198339	C C	CCCAGGAA others(517): Show CCCAGGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACAC CCTCCCTCCCACCTCGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAA GGCAGGACACCCTCCCTCCCACCTCGAAGGCAGGACACCCTCCCTCCCAC CTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTAGAAGGCAGGACACCC TCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCGAAGG CAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCC ACCTCCTAGGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGG ACACCCTCCCTCCCACCTCGAAGGCAGGACAGCCTCCCTCCCACCTCCCG GGAAGATAGGACACCCTCCCTCCCACCTCCCGGGAAGACAGGACACCCTC CCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCGAAGGCA GGACAGCCTCCCTCCCACCTCCCGG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02155.hp2 HG00423.hp2 HG02155.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0039 a0001c0007t0001g0040 a0001c0007t0001g0039 a0001c0007t0001g0040	2	167	0.0120	524	c.646 others(539): Show c.646+222_646+223insCCGGGAGGTGGGAGGGAGGCTGTCCTGCCT TCGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGG TGTCCTGTCTTCCCGGGAGGTGGGAGGGAGGGTGTCCTATCTTCCCGGGA GGTGGGAGGGAGGCTGTCCTGCCTTCGAGGTGGGAGGGAGGGTGTCCTGC CTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTAGGAGGTGGGAG GGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTC GAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTG TCCTGCCTTCTAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGG AGGGAGGGTGTCCTGCCTTCGAGGTGGGAGGGAGGGTGTCCTGCCTTCCT GGGAGGTGGGAGGGAGGGTGTCCTGCCTTCGAGGTGGGAGGGAGGGTGTC CTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGG	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	5/7			chrX	TogoVar
CROCC2_chr2_240901336_240998311	240924912	G G	GCCCCCCA others(517): Show GCCCCCCACACTACCCCGGCCCCCCACACTACCCCGGCCCCCACACTGAC CCAGTCCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCACACTA ACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCCACA CTAACCCAGCCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCA CACTAACCCAGTCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCC CACACTAACCCAGTCCCCACACTAACCCAGCCCCCCACACTAACCCAGCC CCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAG TCCCCACACTGACCCAGCCCCCACACTAACCCAGCCCCCACACTAACCCA GTCCCCACACTGACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACC CAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTA ACCCGGCCCCCCACACTAACCCAGC	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0340 a0001c0001t0004g0340	1	350	0.0029	524	c.489 others(539): Show c.489-807_489-806insCACACTACCCCGGCCCCCCACACTACCCCG GCCCCCACACTGACCCAGTCCCCCACACTAACCCAGTCCCCACACTAACC CAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTAA CCCAGCCCCCCACACTAACCCAGCCCCCACACTAACCCAGCCCCCACACT AACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCACA CTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCC ACACTAACCCAGCCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCC CCACACTAACCCAGTCCCCACACTGACCCAGCCCCCACACTAACCCAGCC CCCACACTAACCCAGTCCCCACACTGACCCAGCCCCCACACTAACCCGGC CCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACC CAGTCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CRTC3_chr15_90524923_90650345	90647237	C C	CCCTCCTC others(517): Show CCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTC CACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCAATCCTCC TCCACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCAAT CCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCAATC CTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCCA CAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTC CTCCTCAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACAC CCCTCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTC CACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCCACAA TCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTC CTCCACAATCCTCCTCCACACCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0021 a0008c0012t0021	a0008c0012t0021g0029 a0008c0012t0021g0029	1	276	0.0036	524	c.50 others(535): Show c.5097_*5098insCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCC TCCACAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCT CCTCCTCAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACA CCCCTCCTCCTCAATCCTCCACACCCCTCCTCCTCAATCCTCCTCCACAC CCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCAC ACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCCACAATCC TCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCCAC AATCCTCCTCCACACCCCTCCTCCTCCTCAATCCTCCTCCACACCCCTCC TCCTCAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACACC CCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCC TCCACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCT	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		1893		chr15	TogoVar
DOCK3_chr3_50669927_51389198	51015844	G G	GATATATA others(517): Show GATATATATATCATATATTTCTATATATGATATATATATCATATATTTCT ATATATGATATATATATCATATATTTCTATATATGATATATATATCATAT ATTTCTATATATGATATATATATCATATATTTCTATATATGATATATATA TCATATATTTCTATATATGATATATATATCATATATATGATATATATATC ATATATTTCTATATATGATATATATATCATATATATGATATATATATCAT ATATTTCTATATATGATATATATATCATATATATGATATATATATCATAT ATTTCTATATATGATATATATATCATATATATGATATATATATCATATAT TTCTATATATGATATATATATCATATATATGATATATATATCATATATAT GATATATATATCATATATTTCTATATATGATATATATATCATATATATGA TATATATATCATATATTTCTATATATGATATATATAATATATATGATATA TATATCATATATTTCTATATATGAT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	212	0.0047	524	c.316 others(543): Show c.316-48596_316-48595insATCATATATTTCTATATATGATATAT ATATCATATATTTCTATATATGATATATATATCATATATTTCTATATATG ATATATATATCATATATTTCTATATATGATATATATATCATATATTTCTA TATATGATATATATATCATATATTTCTATATATGATATATATATCATATA TATGATATATATATCATATATTTCTATATATGATATATATATCATATATA TGATATATATATCATATATTTCTATATATGATATATATATCATATATATG ATATATATATCATATATTTCTATATATGATATATATATCATATATATGAT ATATATATCATATATTTCTATATATGATATATATATCATATATATGATAT ATATATCATATATATGATATATATATCATATATTTCTATATATGATATAT ATATCATATATATGATATATATATCATATATTTCTATATATGATATATAT AATATATATGATATATATATCATATATTTCTATATATGATATATATAT	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	5/52		INFO_REALIGN_3_PRIME	chr3	TogoVar
DPEP1_chr16_89608642_89643433	89634819	C C	CCTTCCTT others(517): Show CCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTCCTTCTCCTTTCCCT TCCTTCCCTTTCCCCTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCC TTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTC TCCTTTCCCTTCCTTCCCTTTCCCCTCCTTCTCCTTTCCCTTCCTTCTCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTC CTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCC TTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCTTT CCCTTCCTTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTT CCTTCCCTTTCCCCTTCCTTCTCCTTTACCTTCCTTCTCCTTTCCCTTCC TTCCCTTTCCCTTCCTTCTCCTTTA	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0027 a0002c0002t0001g0027	1	250	0.0040	524	c.105 others(541): Show c.105-1088_105-1087insTTCCTTCTCCTTTCCCTTCCTTCCCTTT CCCCTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTCCTTCTCCTTTCCC TTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTT CCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTCCTT CTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCC CTTTCCCTTCCTTCCCTTTCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCC CTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTT CCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTT CCCTTTCCCTTCCTTCCTTTCCCTTCCTTCCTTTCCCTTCCTTCCCTTTC CCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTACC TTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTAC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
EBF2_chr8_25836725_26050413	26005369	T T	TATATAAT others(517): Show TATATAATATATATAATATATAATTATATAAAATATATAATATATTATAT ATTATATATATTATATAAATATATAATATATTATATATAATTATATAAAT ATATAATATATTACATATAATTATATATTATATATTATATATAATATATA ATTATATGTAATATATTATATATATTATATATTATATATATATTATATAT ATAATATATTTTATATATTAAATTATATATAATATATATTATATATAATT TATATATATAAAATATATTATATATTATATAAATATATATATTTTATATA TATAAAATATATATTTTATAATATATAATATAGAAATATATATTATATAA TATATAATTATATATAATTATATATTATATAATATATATTTCTATATTAT ATATTTATAATGTATAATATATAAATATATTATAAATATATATTATATAC TATATAATGCATTATAAATATATTATATTTATATATTATAAATATATTAC ATATTTATATATTATATATATAATA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03041.hp1 NA19240.hp2 HG02280.hp2 HG03041.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0002c0003 a0001c0002 a0001c0004 a0002c0003	a0001c0002t0011 a0001c0004t0003 a0002c0003t0035 a0001c0002t0011 a0001c0004t0003 a0002c0003t0035	a0001c0002t0011g0199 a0001c0004t0003g0197 a0002c0003t0035g0157 a0001c0002t0011g0199 a0001c0004t0003g0197 a0002c0003t0035g0157	3	220	0.0136	524	c.551 others(543): Show c.551+27715_551+27716insTATTATATATATAATATATAAATATG TAATATATTTATAATATATAAATATAATATATTTATAATGCATTATATAG TATATAATATATATTTATAATATATTTATATATTATACATTATAAATATA TAATATAGAAATATATATTATATAATATATAATTATATATAATTATATAT TATATAATATATATTTCTATATTATATATTATAAAATATATATTTTATAT ATATAAAATATATATATTTATATAATATATAATATATTTTATATATATAA ATTATATATAATATATATTATATATAATTTAATATATAAAATATATTATA TATATAATATATATATAATATATAATATATATAATATATTACATATAATT ATATATTATATATAATATATAATATATAATTATATGTAATATATTATATA TTTATATAATTATATATAATATATTATATATTTATATAATATATATAATA TATAATATATTATATATTTTATATAATTATATATTATATATATTATAT	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar

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Search Results (Total: 10000 hits)