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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Select column to sort.

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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
MICAL3_chr22_17782649_18029561	17876865	G G	GGGAGGTT others(560): Show GGGAGGTTAGGGAGGTTATGAAGGTTAGGGAGGTTAGGGAAGTTATGGAG GTTAGGGAGATTATGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTGAG GGAGGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTGAGGGAGG TTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGATTATGGAGGTTAGG GAGGTTATGGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGT TAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGG AGGTTAGGGAGATTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTT ATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGA GGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGATTATGGAGGTGA GGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAG GTTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAT GGAGGTGAGGGAGGTTAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0083 a0002c0003t0004g0083	1	274	0.0037	567	c.224 others(586): Show c.2242-4843_2242-4842insATAACCTCCCTCACCTCCATAACCTC CCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCCTAACCTCCATAA CCTCCCTCACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCC ATAATCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCATAAC CTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCC TAACCTCCATAACCTCCCTCACCTCCATAATCTCCCTAACCTCCATAACT TCCCTAACCTCCCTAACCTCCATAACCTCCCTCACCTCCCTAACCTCCAT AACCTCCCTAACCTCCATAACCTCCATAACCTCCATAACCTCCCTAACCT CCATAATCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTC ACCTCCCTAACCTCCATAATCTCCCTAACCTCCATAACCTCCCTCACCTC CATAACCTCCCTCACCTCCCTAACCTCCATAATCTCCCTAACCTCCATAA CTTCCCTAACCTCCCTAACCTTCATAACCTCCCTAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877171	G G	GGGAGGTT others(560): Show GGGAGGTTAAGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAG GTTATGGAGGTTATGGCAGTTATGGAGGTTAGGGAGATTATGGAGGTTAG GGAGGTTATGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGTTAGGGAGG TTAGGGAAGTTATGGAGGTTATGGCAGTTATGGAGGTTAGGGAGATTATG GAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGT GAGGGAGGTTATGGAGGTGAGGGAGGTTAAGGAGGTTAGGGAGCTTATGG AGGTTAGGGAGGTTAAGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTT AGGGAGGTTATGGAGGTTATGGCAGTTATGGAGGTTAGGGAGATTATGGA GGTTAGGGAGGTTATGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGTTA AGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAG GTTAGGGAGCTTATGGAGGTTAGGGAGGTTAAGGAGGTTAGGGAGCTTAT GGAGGTTAGGGAGGTTAA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	274	0.0037	567	c.224 others(586): Show c.2242-5149_2242-5148insTTAACCTCCCTAACCTCCATAAGCTC CCTAACCTCCTTAACCTCCCTAACCTCCATAAGCTCCCTAACCTCCATAA CCTCCCTAACCTCCATAACCTCCATAACTTCCCTAACCTCCTTAACCTCC CTAACCTCCATAAGCTCCCTAACCTCCATAACCTCCCTAACCTCCATAAT CTCCCTAACCTCCATAACTGCCATAACCTCCATAACCTCCCTAACCTCCC TAACCTCCATAACTTCCCTAACCTCCTTAACCTCCCTAACCTCCATAAGC TCCCTAACCTCCTTAACCTCCCTCACCTCCATAACCTCCCTCACCTCCAT AACCTCCCTAACCTCCATAACCTCCATAACTTCCCTAACCTCCATAATCT CCCTAACCTCCATAACTGCCATAACCTCCATAACTTCCCTAACCTCCCTA ACCTCCCTAACCTCCATAAGCTCCCTAACCTCCATAACCTCCCTAACCTC CATAATCTCCCTAACCTCCATAACTGCCATAACCTCCATAACCTCCCTAA CCTCCCTAACCTCCATAACTTCCCTAACCTCCTTAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MPPED1_chr22_43407014_43512848	43432638	A A	AGGGAGGA others(560): Show AGGGAGGAGAGAGAGGGAAAGAGAGAGAGAAGGGGAGGAGAGAGAGAAAG GGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAA GGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAG AAAGGGAGGAGAGAGAGAGGGAAAGAGAAAGGGAGGAGAGAGAGGGAAAG AGAGAAGGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGA GAGAGAGAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGG AGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAG GGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGA AAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAG ATAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGA GAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGA GGAGAGAGAGAAAGGGAG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02970.hp1 HG03225.hp1 HG02258.hp2 HG02970.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0169 a0001c0001t0005g0171 a0001c0001t0005g0225 a0001c0001t0005g0169 a0001c0001t0005g0171 a0001c0001t0005g0225	3	250	0.0120	567	c.225 others(584): Show c.225-2395_225-2394insGGAGGAGAGAGAGGGAAAGAGAGAGAGA AGGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAG AAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGA GAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGGGAAAGAGAAA GGGAGGAGAGAGAGGGAAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAG AGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGG AGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGATAAA GGGAGGAGAGAGAGATAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAG AAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGA GAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGAGG AGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGG AGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
NLGN1_chr3_173392744_174299372	174199422	C C	CCAAGGTG others(560): Show CCAAGGTGATCTTTTCTTTTTTTTTTTTTTTTTTTTTCATTTATTTTTAT TTTATTTTATTTTATTTTTTTTATTATACTCTAAGTTTTAGGGTACATGT GCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATTACTGGGTA TATACCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGT ATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAA ATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCA TGGAATACTATGCATCCATAAAAAATGATGAGTTCATATCCTTTGTAGGG ACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACA AAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGA GATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGG GGTTGGGGGAGGGGGGGAGGGATAGTATTGGGAGATATACCTAATGCTAG ATGACACATTAGTGGGTG	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02717.hp1 HG02818.hp1 others(4): Show HG02523.hp1 HG02717.hp1 HG02818.hp1 HG02922.hp1 HG03041.hp1 HG03139.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 others(4): Show a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0028 a0001c0001t0034 a0001c0001t0037 a0001c0002t0024	a0001c0001t0015g0027 a0001c0001t0017g0023 a0001c0001t0018g0004 others(4): Show a0001c0001t0015g0027 a0001c0001t0017g0023 a0001c0001t0018g0004 a0001c0001t0028g0029 a0001c0001t0034g0025 a0001c0001t0037g0009 a0001c0002t0024g0037	7	44	0.1591	567	c.707 others(586): Show c.707-75877_707-75876insTTTTTTTTTTTTTTTTTTTTCATTTA TTTTTATTTTATTTTATTTTATTTTTTTTATTATACTCTAAGTTTTAGGG TACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATTA CTGGGTATATACCCAAATGAGTATAAATCATGCTGCTATAAAGACACATG CACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACC AACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATA TACACCATGGAATACTATGCATCCATAAAAAATGATGAGTTCATATCCTT TGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGC AAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGA ACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACT GTGGTGGGGTTGGGGGAGGGGGGGAGGGATAGTATTGGGAGATATACCTA ATGCTAGATGACACATTAGTGGGTGCAAGGTGATCTTTTCT	NLGN1	ENSG00000169760.18	transcript	ENST00000695368.1	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
NOTCH1_chr9_136489433_136551048	136535607	G G	GGTGCAGG others(560): Show GGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATG GGTGCAGGGTGGGTGGGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAA TGAGTGCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAA TGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGC AATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGC AATGGGTGCAGGGTGGGTGGGGGGGGGAGCACTCAGGATCCCTCCCAGGG GCAATGGGTGCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGG GCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAG GGGCAATGGGTGCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAG GGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCC AGGGGCAATGGGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGA TCCCTCCCGGGGCAATGA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0007 a0001c0003t0008g0007	1	324	0.0031	567	c.140 others(584): Show c.140+8416_140+8417insTCATTGCCCCGGGAGGGATCCTGAGTGC TCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCTGGGAGGGATC CTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGA TCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTGGGAGGGA TCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGG GATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTGGGAGG GATCCTGAGTGCTCCCCCCCCCACCCACCCTGCACCCATTGCCCCTGGGA GGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGGA GGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGG GAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACTCATTGCCCCTGG GAGGGATCCTGAGTGCTCCCCCCCCCACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535823	G G	GGGTGGGT others(560): Show GGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAGTGC AGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGG GTGCAGGGTGGGTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATG GGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATG GGTGCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATG GGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAAT GGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCA ATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCA ATGGGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCC CGGGGCAATGAGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTC CTGGGGCAATGGGTGCAT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA19064.hp2 NA18950.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0305 a0001c0001t0007g0306 a0001c0001t0003g0305 a0001c0001t0007g0306	2	324	0.0062	567	c.140 others(584): Show c.140+8200_140+8201insATGCACCCATTGCCCCAGGAGGGATCCT GAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCCGGGAGGGATCC TGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCTGGG AGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGG AGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCGG GAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCTCCACCCACCCTGCACCCATTGCCCC TGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCC CCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACTCATTG CCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NRDE2_chr14_90262860_90336941	90300868	A A	AGGAGGGG others(560): Show AGGAGGGGAGGGGGAGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGG GAGGGGAGGGGGAGGGGAGGGAGAGGGGAGGAGGAAGGAGGACGGAGAAG GGGGAGGGAGGAGGATGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAA GGGAGGGGATGGGGGAGGGAGAAGGGAGGGGATGGGGGAGGGGGAGGGGA GGGGGAGGGGAGGGGGATGGGGGAGGGGGAGGGGAGGGGGGGAGGGGGAG GGGAGGGGGAGGGGGGAGGGAGAAGGGAGGGGGAGGGGATGGGGGAGGGA GAAGGGAGGGGGAGGGGGAGGAGAGGGGGAGGGGGAGGGGAGGGGGAGGG GAAAGGGGGGAAGGGAGAAGGGGGAGGGGAAGGGAGGGGAAGGGGAGGAA GAGGGGAGGGGAGGAGGAAGGGGGAGGGGGAGGGGGGAGGGGAAAGGAGG AGGAAGGGGGAGGGGGAAGGGGAGGGAGGGGAGGAGGGGGAAGGGAGGGG AGGAGGGGGAAGGGAGGGGAGGGGAGGAGGGGGGATGGGAGAGGGGAGGG GAGGAAGAAGGGGAAGGG	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0061 a0001c0004t0001g0061	1	344	0.0029	567	c.154 others(584): Show c.1545+370_1545+371insCCCTTCCCCTTCTTCCTCCCCTCCCCTC TCCCATCCCCCCTCCTCCCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTT CCCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCCCTTCCTCCTCCTTTCC CCTCCCCCCTCCCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCT TCCCCTCCCTTCCCCTCCCCCTTCTCCCTTCCCCCCTTTCCCCTCCCCCT CCCCTCCCCCTCCCCCTCTCCTCCCCCTCCCCCTCCCTTCTCCCTCCCCC ATCCCCTCCCCCTCCCTTCTCCCTCCCCCCTCCCCCTCCCCTCCCCCTCC CCCCCTCCCCTCCCCCTCCCCCATCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCCATCCCCTCCCTTCTCCCTCCCCCATCCCCTCCCTTCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCATCCTCCTCCCTCCCCCTTCTCCGTC CTCCTTCCTCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCCTCCCTCCCCCTCCCCTCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NT5DC3_chr12_103767310_103846234	103768604	G G	GGGGAGGG others(560): Show GGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTA GGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGACA GGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGAGAGGGAGAGGGACA GGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGGA GAGGGAGGGGAGGGGGAGAGGGGGAGAGAGAGGGAGGGGGCAGGAGGGGA GGGAGGGGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGAGAGGGA GGGAGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAGG GAGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGAGGGAG AGAGATGGGGGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGG GAGGGAGAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGA GGGAGAGAGAGGGAGAGGGAGAGAGAGGGAGAGGGAGTGAGAGAGAGAGG GAGAGAGAGGGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0345 a0001c0001t0038g0345	1	386	0.0026	567	c.92 others(578): Show c.9224_*9225insTCTCTCTCCCTCTCTCTCCCTCTCTCTCTCACTC CCTCTCCCTCTCTCTCCCTCTCCCTCTCTCTCCCTCTCCCTCCCCCTCTC CCTCTCCTTCTCCCTCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCT CCCCCATCCCTCTCCCTCCCCCTCCCCCATCTCTCTCCCTCCCCCCTCCC TCCCTCTCCCTCTCCCTCCCTCTCCCTCCCTCTCCCTCTCCCTCTCCCTC CCTCTCCCTCCCTCTCCCTCCCTCTCCCTCTCCCTCCCTCTCTCCCTCTC CCTCCCTCTCCCTGTCCCTCTCCCTCCCCCTCCCTCCCCTCCTGCCCCCT CCCTCTCTCTCCCCCTCTCCCCCTCCCCTCCCTCTCCCCCCTCCCCTCCC TCTCCCTCTCTCCCTCCCTCTCTCTCCCTCTCCCTGTCCCTCTCCCTCTC CCTCTCCCTCCCTCTCTCTCCCTCTCCCTGTCCCTGTCCCTCTCCCTCCC CCCTCCCCCTCCCTCTCTGTCCCCCCTCTCCCCCTACCCCTCCCTCTCCC TCCCTCCCTGTCCCCCCTCTCCCCCTCCCTCCC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3705		chr12	TogoVar
NT5DC3_chr12_103767310_103846234	103768604	G G	GGGGAGGG others(560): Show GGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTA GGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGACA GGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGAGAGGGAGAGGGACA GGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGGA GAGGGAGGGGAGGGGGAGAGGGGGGAGAGAGAGGGAGGGGGCGGGAGGGG AGGGAGGGGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGAGAGGG AGGGAGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAG GGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGAGGGA GAGAGATGGGGGAGGGGGAGGGAGAGGGATGGGGAGGGAGAGGGATGGGG GAGGGAGAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGA GGGAGAGAGAGGGAGAGGGAGAGAGAGGGAGAGGGAGTGAGAGAGAGAGG GAGAGAGAGGGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0179 a0001c0001t0037g0179	1	386	0.0026	567	c.92 others(578): Show c.9224_*9225insTCTCTCTCCCTCTCTCTCCCTCTCTCTCTCACTC CCTCTCCCTCTCTCTCCCTCTCCCTCTCTCTCCCTCTCCCTCCCCCTCTC CCTCTCCTTCTCCCTCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCT CCCCATCCCTCTCCCTCCCCCTCCCCCATCTCTCTCCCTCCCCCCTCCCT CCCTCTCCCTCTCCCTCCCTCTCCCTCCCTCTCCCTCTCCCTCTCCCTCC CTCTCCCTCCCTCTCCCTCCCTCTCCCTCTCCCTCCCTCTCTCCCTCTCC CTCCCTCTCCCTGTCCCTCTCCCTCCCCCTCCCTCCCCTCCCGCCCCCTC CCTCTCTCTCCCCCCTCTCCCCCTCCCCTCCCTCTCCCCCCTCCCCTCCC TCTCCCTCTCTCCCTCCCTCTCTCTCCCTCTCCCTGTCCCTCTCCCTCTC CCTCTCCCTCCCTCTCTCTCCCTCTCCCTGTCCCTGTCCCTCTCCCTCCC CCCTCCCCCTCCCTCTCTGTCCCCCCTCTCCCCCTACCCCTCCCTCTCCC TCCCTCCCTGTCCCCCCTCTCCCCCTCCCTCCC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3705		chr12	TogoVar
NT5DC3_chr12_103767310_103846234	103768606	G G	GGAGGGAG others(560): Show GGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTAGG GGGAGAGGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGACAG GGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGGGAGGGGGGAGGGAGA GGGAGAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGA GGGGAGGGGGGAGAGGGAGGGGGAGGGGGAGAGGAGGGGAGAGAGAGGGA GGGGGTGGGAGGGGGAGGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGG GAGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGAGGGAGAGG GAGGGAGGGGAGAGGGAGGGAGAGGGAGGGAGGGGGGGAGGGGAGAGAGA TGGGGGAGGGGGAGGGAGAGGGAGGGGGGAGGGAGAGGGATGGGGGAGGG GAGAGGGACGGGGGAGGGAGAGGAGAGGGAGAGGGGCTGGGAGAGGGAGA GGGAGAGGGAGAGAGGGGAGGGGAGAGAGAGGGAAGGGAGTGAGAGAGAG AGAGGGAGAGAGAGGGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0058 a0001c0004t0058	a0001c0004t0058g0298 a0001c0004t0058g0298	1	386	0.0026	567	c.92 others(578): Show c.9222_*9223insATCCCTCTCTCTCCCTCTCTCTCTCTCACTCCCT TCCCTCTCTCTCCCCTCCCCTCTCTCCCTCTCCCTCTCCCTCTCCCAGCC CCTCTCCCTCTCCTCTCCCTCCCCCGTCCCTCTCCCCTCCCCCATCCCTC TCCCTCCCCCCTCCCTCTCCCTCCCCCTCCCCCATCTCTCTCCCCTCCCC CCCTCCCTCCCTCTCCCTCCCTCTCCCCTCCCTCCCTCTCCCTCTCCCTC CCTCTCCCTCTCCCTCCCTCTCCCTCCCTCTCTCCCTCTCCCTCCCTCTC CCTGTCCCTCTCCCTCCCTCCCCCTCCCACCCCCTCCCTCTCTCTCCCCT CCTCTCCCCCTCCCCCTCCCTCTCCCCCCTCCCCTCCCTCTCCCTCTCTC CCTCCCTCTCTCTCCCTCTCCCTGTCCCTCTCCCTCTCCCTCCCCCCTCC CCCTCTCCCTCCCTCTCTCTCCCTCTCCCTGTCCCTGTCCCTCTCCCTCC CCCCTCCCCCTCCCTCTCTGTCCCCCCCTCTCCCCCTACCCCTCCCTCTC CCTCCCTCCCTGTCCCCCCTCTCCCCCTCCCTC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3703		chr12	TogoVar
NXN_chr17_794310_984776	948880	C C	CCCTGCCT others(560): Show CCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCC TCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCC TCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCC CGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTC CTCTCCCCGCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTG CCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTC CCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCGGCCTCC TCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCT GCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCT CCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCC TCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCC TGCCTCCTCCTCTCCCCG	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	242	0.0041	567	c.360 others(586): Show c.360+30438_360+30439insCGGGGAGAGGAGGAGGCAGGGGGGAG AGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAG GGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGG AGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAG AGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCG GGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAG GAGGCAGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCAGGGGGG AGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGC AGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGG AGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGG GAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGG CAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OR11H4_chr14_20234286_20249349	20237638	T T	TATATACT others(560): Show TATATACTATACATACTATATAGTATATATAGTATATATACTATTTATAC TATATTATATATACTATATATACTATAGTATATATACTATATATACTATA TATACTATATATACTATAGTATATATACTATATATACTATATATACTATA GTATATATCGTATATATACTATATATACCATAGTATATATCGTATATATA CTATATATACTATAGTATATATAGTATATATACGATATATACTATAGTAT ATATAGTATATATACGATATATACTATAGTATATATAGTATATATATATA CTACTATATATAATAGTATATATAGGATATATATATACTACTATATATAG TATATATAGTAGATATACTATATATACTATATAGTATACATAGTATATCT ACTATATAGTACATATAGTATATATAGTATATCTACTATATAGTATATAT ACTATATATACTCTATAGTATATATAGTATATATACTATAGAGTATATAT AGTATATATACTATATATACTGTATATAGTATATATACTATATATACTAT AGAGTATATATAGTATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	439	0.0023	567	c.-17 others(578): Show c.-1705_-1704insATATACTATACATACTATATAGTATATATAGTAT ATATACTATTTATACTATATTATATATACTATATATACTATAGTATATAT ACTATATATACTATATATACTATATATACTATAGTATATATACTATATAT ACTATATATACTATAGTATATATCGTATATATACTATATATACCATAGTA TATATCGTATATATACTATATATACTATAGTATATATAGTATATATACGA TATATACTATAGTATATATAGTATATATACGATATATACTATAGTATATA TAGTATATATATATACTACTATATATAATAGTATATATAGGATATATATA TACTACTATATATAGTATATATAGTAGATATACTATATATACTATATAGT ATACATAGTATATCTACTATATAGTACATATAGTATATATAGTATATCTA CTATATAGTATATATACTATATATACTCTATAGTATATATAGTATATATA CTATAGAGTATATATAGTATATATACTATATATACTGTATATAGTATATA TACTATATATACTATAGAGTATATATAGTATAG	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1647		chr14	TogoVar
OR11H4_chr14_20234286_20249349	20237654	A A	ATAGTATA others(560): Show ATAGTATATATAGTATATAGTATATATAGTATATATAGGATATATAGGAT ATATAGGATATATATAATATAGTATATATAGTATATATACTCTATAGTAT ATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGT ATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATACTATAGAGTATATATACTATATATA CTCTATAGTATATATAGTATATATACTATAGAGTATATATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTCTATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	439	0.0023	567	c.-16 others(578): Show c.-1689_-1688insTAGTATATATAGTATATAGTATATATAGTATATA TAGGATATATAGGATATATAGGATATATATAATATAGTATATATAGTATA TATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTATA TATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATACTC TATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATACTATAGAGTA TATATACTATATATACTCTATAGTATATATAGTATATATACTATAGAGTA TATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTCTATAGT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1631		chr14	TogoVar
OR11H4_chr14_20234286_20249349	20237654	A A	ATAGTATA others(560): Show ATAGTATATATAGTATATAGTATATATAGTATATATAGGATATATAGGAT ATATAGGATATATATAATATAGTATATATAGTATATATACTCTATAGTAT ATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGT ATATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTATAGAGTATATATACTATATATACTCTATAGTATATATAGTATATATA CTATAGAGTATATATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTCTATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0094	1	439	0.0023	567	c.-16 others(578): Show c.-1689_-1688insTAGTATATATAGTATATAGTATATATAGTATATA TAGGATATATAGGATATATAGGATATATATAATATAGTATATATAGTATA TATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTATA TATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTATAGAGTATATATACTATATATACTCTATAGTA TATATAGTATATATACTATAGAGTATATATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTCTATAGT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1631		chr14	TogoVar
OR11H4_chr14_20234286_20249349	20237654	A A	ATAGTATA others(560): Show ATAGTATATATAGTATATAGTATATATAGTATATATAGGATATATAGGAT ATATATAATATAGTATATATAGTATATATACTCTATAGTATATATAGTAT ATATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATACT CTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGT ATATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTATAGAGTATATATACTATATATACTCTATAGT ATATATAGTATATATACTATAGAGTATATATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATA GTATACATACTCTATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTCTATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	439	0.0023	567	c.-16 others(578): Show c.-1689_-1688insTAGTATATATAGTATATAGTATATATAGTATATA TAGGATATATAGGATATATATAATATAGTATATATAGTATATATACTCTA TAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATA TATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATA TATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTATAGAGTATATATACTA TATATACTCTATAGTATATATAGTATATATACTATAGAGTATATATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATAC TCTATAGTATATATAGTATACATACTCTATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTCTATAGT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1631		chr14	TogoVar
OR11H4_chr14_20234286_20249349	20237654	A A	ATAGTATA others(560): Show ATAGTATATATAGTATATAGTATATATAGTATATATAGGATATATAGGAT ATATATAATATAGTATATATAGTATATATACTCTATAGTATATATAGTAT ATATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATACT CTATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGT ATATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTATAGAGTATATATACTATATATACTCTATAGTATATATAGTATATATA CTATAGAGTATATATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTCTATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG02735.hp1 NA18965.hp2 others(4): Show HG01516.hp2 HG02735.hp1 NA18965.hp2 NA18982.hp2 NA19076.hp1 NA19082.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0001t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0002g0028 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0002g0028 a0001c0001t0002g0248 a0001c0001t0002g0258 a0001c0003t0001g0002	7	439	0.0160	567	c.-16 others(578): Show c.-1689_-1688insTAGTATATATAGTATATAGTATATATAGTATATA TAGGATATATAGGATATATATAATATAGTATATATAGTATATATACTCTA TAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATA TATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATACTC TATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTATAGAGTATATATACTATATATACTCTATAGTA TATATAGTATATATACTATAGAGTATATATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTCTATAGT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1631		chr14	TogoVar
PJA2_chr5_109329722_109414974	109354392	G G	GCTATCTA others(560): Show GCTATCTAGAGATATCTATAGATTAGATATCTGTGATATCTAGAGATATC TATAGATTGGATATCTATATCTAGAGATATCTATAGATTGGATATCTATG ATATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAGATATCT ATAGATTAGATGTCTATGATATCTAGAGATATCTATAGATTAGATAGATA TCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAGATATCTATA GATTAGATATCTATGATATCTCGAGATATCTATAGATTAGATATCTATGA TATCTCGAGATATCTATAGATTAGATATCTATGATATCTAGAGATATCTA TAGATTAGATATCTATGATATCTAGAGATATCTATAGATTAGATATCTAT GATATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAGATATC TATAGATTAGATATCTATGATATCTAGAGATATCTATAGATTAGATATCT ATGATATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAGATA TCTATAGATTGGATATCT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0008 a0003c0003t0008	a0003c0003t0008g0320 a0003c0003t0008g0320	1	346	0.0029	567	c.176 others(586): Show c.1764+1522_1764+1523insAGATATCCAATCTATAGATATCTCTA GATATCATAGATATCTAATCTATAGATATCTCTAGATATCATAGATATCT AATCTATAGATATCTCTAGATATCATAGATATCTAATCTATAGATATCTC TAGATATCATAGATATCTAATCTATAGATATCTCTAGATATCATAGATAT CTAATCTATAGATATCTCTAGATATCATAGATATCTAATCTATAGATATC TCTAGATATCATAGATATCTAATCTATAGATATCTCGAGATATCATAGAT ATCTAATCTATAGATATCTCGAGATATCATAGATATCTAATCTATAGATA TCTCTAGATATCATAGATATCTAATCTATAGATATCTCTAGATATCTATC TAATCTATAGATATCTCTAGATATCATAGACATCTAATCTATAGATATCT CTAGATATCATAGATATCTAATCTATAGATATCTCTAGATATCATAGATA TCCAATCTATAGATATCTCTAGATATAGATATCCAATCTATAGATATCTC TAGATATCACAGATATCTAATCTATAGATATCTCTAGATAG	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	7/9			chr5	TogoVar
PPP6R2_chr22_50338327_50450090	50397547	A A	AGGGGGGC others(560): Show AGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGG AGCATGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCA TCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGC CTGTCCTCACCAGCCCTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGAC TTGGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGT TTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCA CCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGG GGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCT GAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCCT GTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGG GGGCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGCAT GACTTGGGATGGGGGCAG	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0007 a0001c0002t0003g0007	1	340	0.0029	567	c.227 others(584): Show c.227+3417_227+3418insGCCTGTCCTCACCAGCCTTGTCATCTCT GAGCTTTTCTCTGAGGAGCATGACTTGGGATGGGGGCAGGGGGGCCTGTC CTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGG ATGGGGGCAGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGTTTTT CTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCACCAGC CTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCA GGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGA GTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCAT CTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCC TGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACT TGGGATGGGGGCGGGGGGGCTGTCCTCACCAGCCTTGTCATCTCTGAGCT TTTCTCTGAGGAGCATGACTTGGGATGGGGGCAGGGGGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50397547	A A	AGGGGGGC others(560): Show AGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGG AGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCCTGTCAT CTCTGAGCTTTTCTCTGAGGAGCATGACTTGGGATGGGGGCAGGGGGGCC TGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGCATGACT TGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGC TTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCA CCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGG GGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCT GAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTT GTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGG GGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTG TGACTTGGGATGGGGGCG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0003 a0001c0031t0003	a0001c0031t0003g0329 a0001c0031t0003g0329	1	340	0.0029	567	c.227 others(584): Show c.227+3417_227+3418insGCCTGTCCTCACCAGCCTTGTCATCTCT GAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCC TCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGCATGACTTGGGA TGGGGGCAGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTC TCTGAGGAGCATGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGC CTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCA GGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGA GTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCAT CTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCC TGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACT TGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGT TTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PRDM16_chr1_3064203_3443621	3351532	C C	CCTCCTCT others(560): Show CCTCCTCTCTCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTC TCCCCCACCTCCCCCCTCCCTCTCTCCCCCTCCTTCTCTCTTCCCCTCCC TCTCTCCCCTCCCTCTCTCCCCTCCCTCTTTCCCCCCCCCTCCTTCTCTC TCCCCTTCCCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTCTCATCCC CTTCCTCTTTCTCTCCCTCCCTCTCCTTCCCCTCCCTCCCACTCTCCCCC TCCCTCTCTCCCCCTTTCCCTCCCTCTCTCCCCCTCTCTCTCTTCTGCTC CTTCTCTCTCCCCTTTCCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTCT CTCATCCCCTTCCTCTTTCTCTCCCTCTCTCTTCCCCTCCCTCCCTCTCT CCCCCTCCCTCTGTCCCGTCCCTCTCTCCCCCTCCCTCTCTCCCCTCCCT CTCCTCCCTCTTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCC CCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCTTCTCTCTCCCCTCCC TCTCTCCCCTCCCTCTCT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0025 a0001c0004t0025	a0001c0004t0025g0205 a0001c0004t0025g0205	1	210	0.0048	567	c.439 others(586): Show c.439-33619_439-33618insTCCTCTCTCCCCTCCCTCTCTCCCCC TCCCTCTCTCCCCCTCCCTCTCTCCCCCACCTCCCCCCTCCCTCTCTCCC CCTCCTTCTCTCTTCCCCTCCCTCTCTCCCCTCCCTCTCTCCCCTCCCTC TTTCCCCCCCCCTCCTTCTCTCTCCCCTTCCCTCTCTCCCCTCCCTCTCT GTCCCCCTCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTCCCTCTCCTT CCCCTCCCTCCCACTCTCCCCCTCCCTCTCTCCCCCTTTCCCTCCCTCTC TCCCCCTCTCTCTCTTCTGCTCCTTCTCTCTCCCCTTTCCTCTCTCCCCT CCCTCTCTGTCCCCCTCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTCT CTCTTCCCCTCCCTCCCTCTCTCCCCCTCCCTCTGTCCCGTCCCTCTCTC CCCCTCCCTCTCTCCCCTCCCTCTCCTCCCTCTTCCCTCTCTCCCCCTCC CTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCC CCCTCCTTCTCTCTCCCCTCCCTCTCTCCCCTCCCTCTCTC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
RAB37_chr17_74732256_74752335	74733454	G G	GTGTGGTG others(560): Show GTGTGGTGTGATTTGAGGTGTGTGTGGTGAGGTGTGTGGTGTGATTTGAG GGGTTAGGTGTGTGTGGTGTGAGTGTGTGTGTATGGTGAGGTACGTGTGT CTGTGGTGTGATTTGAAGTGTGTGGTGTGTGTGGTGTGAGGTGTGTGTCT GTGGTGTGATTTGAGGGTGTGTGTGTGGTGTGAGGTGTATGTGGTGTGAT TTGATGTGTGTGTGGTGAGGTCTGTGGTGTGATTTGAGGGGTGAGGTGTG TGTGGTGTGAGGTGTGTGTGGTGTGATTTGAGGTGTATGTGTGTGGTTTG AGGTGTGTGGTGTGATTTGAGGTGTGTGTGGTGAGGTGTGTGGTGTAACT TGAGGGGTGTGTGTGGTGTGAGGTGTGTGGTGTGATTTGAGGTGTGTTGG TGAGGTGTGTGGTGTGATTTGAGGTGTGTGTGGTGAGGTGTGTGGTGTAA CTTGAGGGGTGTGTGTGGTGTGAGGTGTGTGGTGTGATTTGAGGTGTGTT GGTGAGGTGTGTGGTGTGATTTGAGGTATGAGGTGTGTGGTGTGATTTGA GGTATGAGGTGTGTGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	432	0.0023	567	c.-38 others(578): Show c.-3819_-3818insTGTGGTGTGATTTGAGGTGTGTGTGGTGAGGTGT GTGGTGTGATTTGAGGGGTTAGGTGTGTGTGGTGTGAGTGTGTGTGTATG GTGAGGTACGTGTGTCTGTGGTGTGATTTGAAGTGTGTGGTGTGTGTGGT GTGAGGTGTGTGTCTGTGGTGTGATTTGAGGGTGTGTGTGTGGTGTGAGG TGTATGTGGTGTGATTTGATGTGTGTGTGGTGAGGTCTGTGGTGTGATTT GAGGGGTGAGGTGTGTGTGGTGTGAGGTGTGTGTGGTGTGATTTGAGGTG TATGTGTGTGGTTTGAGGTGTGTGGTGTGATTTGAGGTGTGTGTGGTGAG GTGTGTGGTGTAACTTGAGGGGTGTGTGTGGTGTGAGGTGTGTGGTGTGA TTTGAGGTGTGTTGGTGAGGTGTGTGGTGTGATTTGAGGTGTGTGTGGTG AGGTGTGTGGTGTAACTTGAGGGGTGTGTGTGGTGTGAGGTGTGTGGTGT GATTTGAGGTGTGTTGGTGAGGTGTGTGGTGTGATTTGAGGTATGAGGTG TGTGGTGTGATTTGAGGTATGAGGTGTGTGTGA	RAB37	ENSG00000172794.20	transcript	ENST00000392613.10	protein_coding		3801		chr17	TogoVar
RANBP10_chr16_67718070_67811560	67782758	T T	TCACTTTT others(560): Show TCACTTTTAAGAGCCATCTCTTAAAAGCCACTTTTAAGAGCCATCTCTTA AAAGCCACTTTTAAGAGCCATCTCTTAAAAGCCACTTTTAAGAGCCATCT CTTAAAAGCCACTTTTAAGAGCCATCTCTTAAAAGCCACTTTTAAGAGCC ATCTCTTAAAAGCCACTTTTAAGAGCCATCTCTTAAAAGCCACTTTTAAG AGCCATCTCTTAAAAGCCACTTTTAAGAGCCATCTCTTAAAAGCCACTTT TAAGAGCCATCTCTTAAAAGCCACTTTTAAGAGCCATCTCTTAAAAGCCA CTTTTAAGAGCCATCTCTTAAAAGCCACTTTTAAGAGCCATCTCTTAAAA GCCACTTTTAAGAGCCATCTCTTAAAAGCCACTTTTAAGAGCCATCTCTT AAAAGCCACTTTTAAGAGCCATCTCTTAAAAGCCACTTTTAAGAGCCATC TCTTAAAAGCCACTTTTAAGAGCCATCTCTTAAAAGCCACTTTTAAGAGC CATCTCTTAAAAGCCACTTTTAAGAGCCATCTCTTAAAAGCCACTTTTAA GAGCCATCTCTTAAAAGC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01070.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0085 a0001c0001t0006g0086 a0001c0001t0006g0085 a0001c0001t0006g0086	2	152	0.0132	567	c.348 others(586): Show c.348-10673_348-10672insGCTTTTAAGAGATGGCTCTTAAAAGT GGCTTTTAAGAGATGGCTCTTAAAAGTGGCTTTTAAGAGATGGCTCTTAA AAGTGGCTTTTAAGAGATGGCTCTTAAAAGTGGCTTTTAAGAGATGGCTC TTAAAAGTGGCTTTTAAGAGATGGCTCTTAAAAGTGGCTTTTAAGAGATG GCTCTTAAAAGTGGCTTTTAAGAGATGGCTCTTAAAAGTGGCTTTTAAGA GATGGCTCTTAAAAGTGGCTTTTAAGAGATGGCTCTTAAAAGTGGCTTTT AAGAGATGGCTCTTAAAAGTGGCTTTTAAGAGATGGCTCTTAAAAGTGGC TTTTAAGAGATGGCTCTTAAAAGTGGCTTTTAAGAGATGGCTCTTAAAAG TGGCTTTTAAGAGATGGCTCTTAAAAGTGGCTTTTAAGAGATGGCTCTTA AAAGTGGCTTTTAAGAGATGGCTCTTAAAAGTGGCTTTTAAGAGATGGCT CTTAAAAGTGGCTTTTAAGAGATGGCTCTTAAAAGTGGCTTTTAAGAGAT GGCTCTTAAAAGTGGCTTTTAAGAGATGGCTCTTAAAAGTG	RANBP10	ENSG00000141084.12	transcript	ENST00000317506.8	protein_coding	2/13			chr16	TogoVar
RNF213_chr17_80255852_80403794	80355670	A A	ATGGAGGA others(560): Show ATGGAGGAAGAAGCGGGGTGAATGGGAATGGGGGCTCACAGAGGAAGAAG CGGGGTGACCGGGAATGGGGGCTTACAGGGGGAAGAAGCGGGGTGGACGG GAATGGGGGCTTATGGAGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTA CAGAGGAAGAAGCGGGGTGACCGGGAATGGGGGCTTACAGGGGAAGAAGC GGGGTGGACGGGAATGGGGGCTTATGGAGGAAGAAGCGGGGTGAATGGGA ATGGGGGCTCACAGAGGAAGAAGCGGGGTGACCGGGAATGGGGGCTTACA GGGGGAAGAAGCGGGGTGGACGGGAATGGGGGCTTACAGGGGAAGAAGCG GGGTGAATGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAATGGGAA TGGGGGCTTACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACGG GGGAAGAAGCGGGGTGGACGGGAATGGGGGCTTACAGAGGAAGAAGCGAC GAAGAAGTGGGGTGACCGGGAATGGGGGCTCACAGGGGAAGAAGTGGGGT GAACAGGATTGGGGGCTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0070 a0070	a0070c0066 a0070c0066	a0070c0066t0040 a0070c0066t0040	a0070c0066t0040g0030 a0070c0066t0040g0030	1	292	0.0034	567	c.108 others(588): Show c.10862+1094_10862+1095insTGGAGGAAGAAGCGGGGTGAATGG GAATGGGGGCTCACAGAGGAAGAAGCGGGGTGACCGGGAATGGGGGCTTA CAGGGGGAAGAAGCGGGGTGGACGGGAATGGGGGCTTATGGAGGAAGAAG CGGGGTGAATGGGAATGGGGGCTTACAGAGGAAGAAGCGGGGTGACCGGG AATGGGGGCTTACAGGGGAAGAAGCGGGGTGGACGGGAATGGGGGCTTAT GGAGGAAGAAGCGGGGTGAATGGGAATGGGGGCTCACAGAGGAAGAAGCG GGGTGACCGGGAATGGGGGCTTACAGGGGGAAGAAGCGGGGTGGACGGGA ATGGGGGCTTACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACA GGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACAGGGGAAGAAGCGG GGTGAATGGGAATGGGGGCTTACGGGGGAAGAAGCGGGGTGGACGGGAAT GGGGGCTTACAGAGGAAGAAGCGACGAAGAAGTGGGGTGACCGGGAATGG GGGCTCACAGGGGAAGAAGTGGGGTGAACAGGATTGGGGGCTT	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67			chr17	TogoVar
RPA3_chr7_7631518_7723607	7679096	A A	AATATATA others(560): Show AATATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTACATATTTAGTTTATAAATATATATTTACATATTT AGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTACAT ATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTT ACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATAT ATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACAT ATTTACATATTTAGTTTATAAATACATATTTATTTAGTTTATAAATACAT ATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAAT ACATATTTATATATTTAGTTTATAAGTACATATTTATATATTTAGTTTAT AAGTACATATTTATATATTTAATTTATAAGTATATATTTATATATTTAAT TTATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATTTA TATATTTAATTTATAGAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	308	0.0033	567	c.-75 others(586): Show c.-758+6733_-758+6734insATCTATAAATTAAATATATAAATATA TTTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAATA TATAAATATATACTTATAAATTAAATATATAAATATGTACTTATAAACTA AATATATAAATATGTACTTATAAACTAAATATATAAATATGTATTTATAA ACTAAATATGTAAATATGTATTTATAAACTAAATATGTAAATATGTATTT ATAAACTAAATAAATATGTATTTATAAACTAAATATGTAAATATGTATTT ATAAACTAAATAAATATATATTTATAAACTAAATATGTAAATATATATTT ATAAACTAAATATGTAAATATATATTTATAAACTAAATATGTAAATATAT ATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATATGTAAAT ATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATATGT AAATATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAAT ATGTAAATATATATTTATAAACTAAATATGTAAATATATAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7679098	C C	CATATATT others(560): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATAT TTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATATTTAT ATATTTAGTTTATAAATATATATTTATTTATTTAGTTTATAAATATATAT TTATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATAT TTATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATATTTAC ATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATAT TTACATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAATAC ATATTTATATATTTAGTTTATAAATATATATTTATATATTTAATTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATA TTTAGTTTATAGATAAAT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03927.hp2 HG03834.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0067 a0001c0001t0001g0068	2	308	0.0065	567	c.-75 others(586): Show c.-758+6731_-758+6732insATTTATCTATAAACTAAATATATAAA TATATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAAAT TAAATATATAAATATATATTTATAAACTAAATATATAAATATGTATTTAT AAACTAAATATATAAATATGTATTTATAAACTAAATATGTAAATATGTAT TTATAAACTAAATATGTAAATATGTATTTATAAACTAAATATGTAAATAT TTATAAACTAAATATGTAAATATGTATTTATAAACTAAATAAATATATAT TTATAAACTAAATATGTAAATATATATTTATAAACTAAATAAATATATAT TTATAAACTAAATAAATAAATATATATTTATAAACTAAATATATAAATAT ATATTTATAAACTAAATATATAAATATATATTTATAAACTAAATATATAA ATATATGTTTATAAACTAAATATATAAATATATGTTTATAAACTAAATAT ATAAATATATGTTTATAAACTAAATATATAAATATATGTTTATAAACTAA ATATATAAATATATGTTTATAAACTAAATATATAAATATAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPH3AL_chr17_207389_357807	304998	A A	AGGGGGAC others(560): Show AGGGGGACAGGGCGAGAGGGGACAGGGCGAGAGGGGGACAGGGCGGGAGG GGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGG GACAGGGCGAGAGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACA GGGCGGGAGGGGGACAGGGCGAGAGGGGACAGGGCGAGAGGGGACAGGGC GGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGGACAGGGCGA GAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAG GGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGG GACAGGGCGGGAGGGGGACAGGGCGAGAGGGGGACAGGGCGAGAGGGGAC AGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAG GGCGAGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGC GGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGACAGGGCGGG AGGGGGACAGGGCGGGAG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02080.hp1 HG02135.hp2 others(4): Show HG00280.hp2 HG02080.hp1 HG02135.hp2 NA18940.hp2 NA18959.hp2 NA19005.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0012 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0001t0012 a0001c0004t0001 a0001c0004t0004 a0001c0004t0026	a0001c0001t0001g0065 a0001c0001t0012g0053 a0001c0004t0001g0046 others(4): Show a0001c0001t0001g0065 a0001c0001t0012g0053 a0001c0004t0001g0046 a0001c0004t0001g0062 a0001c0004t0001g0078 a0001c0004t0004g0014 a0001c0004t0026g0013	7	133	0.0526	567	c.351 others(586): Show c.351+14421_351+14422insCTCCCGCCCTGTCCCCCTCCCGCCCT GTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTC CCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCC CTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTC TCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCC GCCCTGTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCC CTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTG TCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTC CCCTCTCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCC TCCCGCCCTGTCCCCTCTCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCCC GCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGC CCTGTCCCCCTCTCGCCCTGTCCCCTCTCGCCCTGTCCCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	304998	A A	AGGGGGAC others(560): Show AGGGGGACAGGGCGAGAGGGGACAGGGCGAGAGGGGGACAGGGCGGGAGG GGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGG GACAGGGCGGGAGGGGGACAGGGCGAGAGGGGACAGGGCGAGAGGGGACA GGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGACAGGG CGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGA GAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAG GGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGG GACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGGA CAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAG GGCGGGAGGGGGACAGGGCGAGAGGGGGACAGGGCGAGAGGGGACAGGGC GGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGA GAGGGGACAGGGCGGGAG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0107 a0001c0001t0013g0107	1	133	0.0075	567	c.351 others(586): Show c.351+14421_351+14422insCTCCCGCCCTGTCCCCTCTCGCCCTG TCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTC CCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCC CTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTC TCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCG CCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCC CTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCTCGCCCTG TCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCC CCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCT CTCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCC GCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGC CCTGTCCCCCTCTCGCCCTGTCCCCTCTCGCCCTGTCCCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCCTC others(560): Show CCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTACCTC CTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTC CCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCT CCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCCCTCCCCCTCC CCTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCC TCCCCTCCCCTCCCCCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCACCC CTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCCTTCCCCC TCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0019 a0001c0001t0005g0019	1	150	0.0067	567	c.77- others(584): Show c.77-45385_77-45384insCTCCCCTCCCCCTCCCCCTCCCCCTCCC CTCCCCTCCCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCC CTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCACCC CTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCC ACCCCCTCCCCATCCCCTCCCCTCCCCTCCCCCCCCCTCCCCTCCCCCTC CCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCT CCCCACCCCCTTCCCCCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(560): Show CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCC CACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTC CCCCCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCCCTCCCCCTCCCCT CCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCCTCC CCTCCCCTCCCCCCCCTCCCCTCCCCCTCCCCCTCTCCTCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCACC CCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCC TCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	150	0.0067	567	c.77- others(584): Show c.77-45374_77-45373insTCCCCTCCCCCTCCCCTCCCCTCCCCTA CCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCC CCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCT CCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCCCTCCCCC TCCCCTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATC CCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCCTCCCCCTCTCCTCCCCT CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCT TCCCCCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(560): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTAC CTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCC CCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCA TCCCCTCCCCTCCCCCCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCACC CCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCC TCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0135 a0001c0001t0010g0135	1	150	0.0067	567	c.77- others(584): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCC TCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCC TCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCC TCCCCATCCCCTCCCCTCCCCCCCCCTCCCCTCCCCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCT TCCCCCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCCTC others(560): Show CCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTACCTC CTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTC CCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCT CCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCCCTCCCCCTCC CCTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCC TCCCCTCCCCTCCCCCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCACCC CTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCCTTCCCCC TCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	158	0.0063	567	c.22+ others(584): Show c.22+36326_22+36327insCTCCCCTCCCCCTCCCCCTCCCCCTCCC CTCCCCTCCCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCC CTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCACCC CTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCC ACCCCCTCCCCATCCCCTCCCCTCCCCTCCCCCCCCCTCCCCTCCCCCTC CCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCT CCCCACCCCCTTCCCCCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(560): Show CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCC CACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTC CCCCCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCCCTCCCCCTCCCCT CCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCCTCC CCTCCCCTCCCCCCCCTCCCCTCCCCCTCCCCCTCTCCTCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCACC CCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCC TCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	158	0.0063	567	c.22+ others(584): Show c.22+36337_22+36338insTCCCCTCCCCCTCCCCTCCCCTCCCCTA CCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCC CCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCT CCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCCCTCCCCC TCCCCTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATC CCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCCTCCCCCTCTCCTCCCCT CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCT TCCCCCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(560): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTAC CTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCC CCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCA TCCCCTCCCCTCCCCCCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCACC CCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCC TCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0138 a0001c0001t0003g0138	1	158	0.0063	567	c.22+ others(584): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCC TCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCC TCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCC TCCCCATCCCCTCCCCTCCCCCCCCCTCCCCTCCCCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCT TCCCCCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SERINC2_chr1_31408213_31439678	31431776	A A	AATAGGGT others(560): Show AATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG ACAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGG GTGGTTAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTG GATAGGGTGGACAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG ATAGGGTGGATAGGGTGG	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0306 a0002c0002t0001g0306	1	376	0.0027	567	c.101 others(586): Show c.1014-1182_1014-1181insTTAGGGTGGTTAGGGTGGATAGGATG GTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAG GGTGGATAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGG ACAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGATAGGGTGGATAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAC AGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGTTA GGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGTTAGGGTG GATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431985	T T	TAGGATGG others(560): Show TAGGATGGTTAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGG TGGAGAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGTTAGTGTGGAGAGGGTGGACAGGGTGGAGAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGACAGGGTGGACA GGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTG GAGAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGATAG GGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGG AGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGG GTGGATAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGA GAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGG TGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGAC AGGGTGGACAGGGTGGAC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0122 a0001c0003t0002g0122	1	376	0.0027	567	c.101 others(584): Show c.1014-979_1014-978insATGGTTAGGGTGGACAGGGTGGACAGGG TGGACAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGTTAGTGTGGAGAGGGTGGACAGGGT GGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGA GGGTGGACAGGGTGGACAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTG GATAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGAGAG GGTGGAGAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGG ATAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGG GTGGAGAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGA GAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGACAGGGTGGACAGGG TGGACAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGAC AGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC12A7_chr5_1045384_1117063	1098431	G G	GCCCCCTT others(560): Show GCCCCCTTCTAACCCTCTGCATGCCCAGGCCCCCTCTAACCCTCTGCACA CCCAGCCCCCCTCTAACCCTCTGCACACCCAGGCCCCCCTCTAACCCTCT GCACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACC CTCTGCTCACCCAGCCCCCCTCTAACCCTCTGCATGCCCAGCCCCCCTCT AACCCTCTGCACGCCCAGGCCCCCTCTAACCCTCTGCACACCCAGCCCCC CTCTAACCCTCTGCTCACCCAGCCCCCTTCTAACCCTCTGCACGCCCAGG CCCCCTCTAACCCTCTGCACGCCCAGCCCCCCTCTAACCCTCTGCACACC CAGCCCCCCTCTAACCCTCTGCATGCCCAGCCCCCCTCTAACCCTCTGCA CACCCAGCCCCCTTCTAACCCTCTGCACGTCCAGCCCCCCTCTAACCCTC TGCACACCCAGCCCCCCTCTAACCCTCTGCACGCCCAGCCCCCCTCTAAC CCTCTGCACACCCAGCCCCCTTCTAACCCTCTGCATGCCCAGCCCCCCTC TAACCCTCTGCTCACCCA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0004 a0002c0023t0004	a0002c0023t0004g0010 a0002c0023t0004g0010	1	118	0.0085	567	c.125 others(584): Show c.125-4184_125-4183insTGGGTGAGCAGAGGGTTAGAGGGGGGCT GGGCATGCAGAGGGTTAGAAGGGGGCTGGGTGTGCAGAGGGTTAGAGGGG GGCTGGGCGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGA GGGGGGCTGGACGTGCAGAGGGTTAGAAGGGGGCTGGGTGTGCAGAGGGT TAGAGGGGGGCTGGGCATGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGA GGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTTAGAGGGGGCCTGGGCGTG CAGAGGGTTAGAAGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGG TGTGCAGAGGGTTAGAGGGGGCCTGGGCGTGCAGAGGGTTAGAGGGGGGC TGGGCATGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGG GGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAG AGGGGGGCCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGG GTTAGAGGGGGCCTGGGCATGCAGAGGGTTAGAAGGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1098431	G G	GGCCCCCT others(560): Show GGCCCCCTCTAACCCTCTGCACGCCCAGCCCCCCTCTAACCCTCTGCTCA CCCAGCCCCCCTCTAACCCTCTGCACGCCCAGGCCCCCTCTAACCCTCTG CACGCCCAGCCCCCCTCTAACCCTCTGCACGCCCAGCCCCCCTCTAACCC TCTGCTCACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTA ACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCC TCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTGCATGCCCAGCC CCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTGCTCACCC AGCCCCCTTCTAACCCTCTGCTCGCCCAGCCCCCCTCTAACCCTCTGCAC ACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCT GCACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACC CTCTGCACACCCAGGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTC TAACCCTCTGCACACCCA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0006 a0001c0009t0006	a0001c0009t0006g0064 a0001c0009t0006g0064	1	118	0.0085	567	c.125 others(584): Show c.125-4184_125-4183insTGGGTGTGCAGAGGGTTAGAGGGGGGCT GGGTGTGCAGAGGGTTAGAGGGGGGCCTGGGTGTGCAGAGGGTTAGAGGG GGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAG AGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGG TTAGAGGGGGGCTGGGCGAGCAGAGGGTTAGAAGGGGGCTGGGTGAGCAG AGGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGCAT GCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGG GTGTGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGG CTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGAGG GGGGCTGGGCGTGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTTA GAGGGGGCCTGGGCGTGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGAGG GTTAGAGGGGGGCTGGGCGTGCAGAGGGTTAGAGGGGGC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1098506	A A	ATGCCCAG others(560): Show ATGCCCAGGCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCT CTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAA CCCTCTGCATGCCCAGCCCCCCTCTAACCCTCTGCACGCCCAGGCCCCCT CTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCC CCTTCTAACCCTCTGCACGCCCAGGCCCCCTCTAACCCTCTGCACGCCCA GCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCATG CCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCTTCTAACCCTCTG CACGTCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCC TCTGCACGCCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCTTCTA ACCCTCTGCATGCCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCC TCTAACCTTCTGCACACCCAGCCCCCTTCTAACCCTCTGCTCACCCAGCC CCCCTCTAACCCTCTGCT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp1 HG03516.hp1 HG01884.hp1 HG02055.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0010 a0001c0003 a0001c0010	a0001c0003t0003 a0001c0010t0005 a0001c0003t0003 a0001c0010t0005	a0001c0003t0003g0005 a0001c0003t0003g0006 a0001c0010t0005g0009 a0001c0003t0003g0005 a0001c0003t0003g0006 a0001c0010t0005g0009	3	118	0.0254	567	c.125 others(584): Show c.125-4259_125-4258insAGCAGAGGGTTAGAGGGGGGCTGGGTGA GCAGAGGGTTAGAAGGGGGCTGGGTGTGCAGAAGGTTAGAGGGGGGCTGG GTGAGCAGAGGGTTAGAGGGGGGCTGGGCATGCAGAGGGTTAGAAGGGGG CTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTTAGAGG GGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGACGTGCAGAGGGTTA GAAGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGCATGCAGAGG GTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGCGTGCA GAGGGTTAGAGGGGGCCTGGGCGTGCAGAGGGTTAGAAGGGGGCTGGGTG AGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGCCTG GGCGTGCAGAGGGTTAGAGGGGGGCTGGGCATGCAGAGGGTTAGAGGGGG GCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAG GGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGCCTGGGCA	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC45A4_chr8_141202174_141313288	141203522	G G	GAGGGAGA others(560): Show GAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGA GGGAGAGAGAGAGAGAGAGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGGAGAGAGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGAGGGAGAGAGGGAG AGAGGGAGAGAGGGAGAGAGGGAGAGGGAGAGGGAGAGGGAGAGAGGGAG AGAGGGAGAGAGGAGAGAGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGAGGGAGAGAGGGGAGAGGGGAGAGAGGGAGAGAGG GAGAGAGGGAGAGGGAGAGGGAGAGGGAGAGAGGGAGAGAGGGGAGAGAG GGAGAGAGAGAGAGGGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAG AGAGAGAGAGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGAGGGAG AGGGAGAGAGGGAGAGAGGGAGAGAGGGAGGAGGGAGAGAGGGAGAGAGG GAGAGAGGGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0018 a0001c0023t0018	a0001c0023t0018g0176 a0001c0023t0018g0176	1	188	0.0053	567	c.80 others(578): Show c.8049_*8050insTCTCCCTCTCCCTCTCTCCCTCTCTCCCTCTCTC CCTCCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCCCTCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCTCTCTCTCTCTCTCCCTCTCTCCCT CTCTCCCTCTCTCCCTCTCCCTCTCTCTCTCTCCCTCTCTCCCCTCTCTC CCTCTCTCCCTCTCCCTCTCCCTCTCCCTCTCTCCCTCTCTCCCTCTCTC CCCTCTCCCCTCTCTCCCTCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCTCTCTCCTCTCTCCCTCTCTCCCTCTCTCCCTCT CCCTCTCCCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCTCTCT CCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCTCTCTCTCTCTCTCTCCCTCTCTCCCTCTCTCCC TCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCT	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3651		chr8	TogoVar
SMIM36_chr17_55444856_55516452	55501395	T T	TATATATT others(560): Show TATATATTATTATATATTATAAAATATAATATATTATTATATATTATAAA ATATAATATATTATTATATATTATAAAATATAATATATTATTATATATTA TAAAATATAATATATTATTATATATTATAAAATATAATATATTATTATAT ATTATAAAATATAATATATTATTATATATTATAAAATATAATATATTATT ATATATTATAAAATATAATATATTATTATATATTATAAAATATAATATAT TATTATATATTATAAAATATAATATATTATTATATATTATAAAATATAAT ATATTATTATATATTATAAAATATAATATATTATTATATATTATAAAATA TAATATATTATTATATATTATAAAATATAATATATTATTATATATTATAA AATATAATATATTATTATATATTATAAAATATAATATATTATTATATATT ATAAAATATAATATATTATTATATATTATAAAATATAATATATTATTATA TATTATAAAATATAATATATTATTATATATTATAAAATATAATATATTAT TATATATTATAAAATATA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0152 a0001c0001t0003g0152	1	340	0.0029	567	c.17 others(586): Show c.174+9483_*174+9484insTATATTTTATAATATATAATAATATA TTATATTTTATAATATATAATAATATATTATATTTTATAATATATAATAA TATATTATATTTTATAATATATAATAATATATTATATTTTATAATATATA ATAATATATTATATTTTATAATATATAATAATATATTATATTTTATAATA TATAATAATATATTATATTTTATAATATATAATAATATATTATATTTTAT AATATATAATAATATATTATATTTTATAATATATAATAATATATTATATT TTATAATATATAATAATATATTATATTTTATAATATATAATAATATATTA TATTTTATAATATATAATAATATATTATATTTTATAATATATAATAATAT ATTATATTTTATAATATATAATAATATATTATATTTTATAATATATAATA ATATATTATATTTTATAATATATAATAATATATTATATTTTATAATATAT AATAATATATTATATTTTATAATATATAATAATATATTATATTTTATAAT ATATAATAATATATTATATTTTATAATATATAATAATATAT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SNTG2_chr2_945849_1372613	1346222	C C	CCCCTGTT others(560): Show CCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTC CTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTG GACTCGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGG ACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACAT GCATAGGAAGAGTGGACTCGCACTTTTCCCCTGTTCTGGGCACGCCTGGC CCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTG GGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCCCCCTGTTC TGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTG GGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCAC TTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCA GCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAA GAGTGGACTCGCACTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01496.hp1 HG01975.hp1 others(9): Show HG01081.hp2 HG01496.hp1 HG01975.hp1 HG02071.hp1 HG02132.hp1 HG02165.hp2 HG02293.hp1 NA18943.hp2 NA18969.hp2 NA18990.hp1 NA19084.hp1 NA20300.hp1	a0001 a0002 a0020 others(1): Show a0001 a0002 a0020 a0022	a0001c0002 a0002c0003 a0002c0005 others(3): Show a0001c0002 a0002c0003 a0002c0005 a0002c0022 a0020c0032 a0022c0021	a0001c0002t0001 a0002c0003t0001 a0002c0005t0001 others(3): Show a0001c0002t0001 a0002c0003t0001 a0002c0005t0001 a0002c0022t0001 a0020c0032t0001 a0022c0021t0001	a0001c0002t0001g0031 a0002c0003t0001g0026 a0002c0003t0001g0030 others(9): Show a0001c0002t0001g0031 a0002c0003t0001g0026 a0002c0003t0001g0030 a0002c0003t0001g0158 a0002c0003t0001g0174 a0002c0003t0001g0175 a0002c0003t0001g0183 a0002c0005t0001g0020 a0002c0005t0001g0167 a0002c0022t0001g0155 a0020c0032t0001g0059 a0022c0021t0001g0111	12	190	0.0632	567	c.148 others(588): Show c.1489-21118_1489-21117insTGTTCTGGGCACGCCTGGCCCAGC TCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAG CAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCCCCCTGTTCTGGGC ACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACT TTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTC CCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCC TCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGG ACTCGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGA CAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATG CATAGGAAGAGTGGACTCGCACTTTTCCCCCTGTTCTGGGCACGCCTGGC CCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTG GGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCCC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SRXN1_chr20_641615_658200	642261	G G	GGGGGGGG others(560): Show GGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGAGGCCCAGCGGG GGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGG GGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGT GGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGGGT TGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAG CGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTG GGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGG TGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGG GGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGCCCAGCGGGGGTGGAG TTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGTTGCCTGGGGGGGGCCC AGCGGGGGTGGAGTTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0013 a0001c0001t0005g0013	1	422	0.0024	567	c.64 others(578): Show c.6452_*6453insGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCA ACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCTGGG CCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCAACT CCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCC CCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTCCACC CCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCCGCTGG GCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAGGCAACTC CACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCC CCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAACTCCACC CCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCC CCCCAGGCAACCCCACCCCCGCTGGGCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4353		chr20	TogoVar
SRXN1_chr20_641615_658200	642261	G G	GGGGGGGG others(560): Show GGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGT GGGGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAG GCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGATGGGGTT GCCTGGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGC GGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGG GGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGT TGCCTGTGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCC AGCAGGGGTGGAGTTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0096 a0001c0001t0005g0096	1	422	0.0024	567	c.64 others(578): Show c.6452_*6453insGGCAACTCCACCCCTGCTGGGCCCCCCCCCACAG GCAACTCCACCCCCGCTGGGCCCCCCCACAGGCAACTCCACCCCCGCTGG GCCCCCCACCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAAC TCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCC CCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACC CCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCA GGCAACCCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCATCCCCGCTG GGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAA CTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACC CCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTC CACCCCCGCTGGGCCTCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCC CCCCAGGCAACCCCACCCCCGCTGGGCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4353		chr20	TogoVar
STAB2_chr12_103582273_103771719	103768604	G G	GGGGAGGG others(560): Show GGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTA GGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGACA GGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGAGAGGGAGAGGGACA GGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGGA GAGGGAGGGGAGGGGGAGAGGGGGGAGAGAGAGGGAGGGGGCGGGAGGGG AGGGAGGGGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGAGAGGG AGGGAGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAG GGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGAGGGA GAGAGATGGGGGAGGGGGAGGGAGAGGGATGGGGAGGGAGAGGGATGGGG GAGGGAGAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGA GGGAGAGAGAGGGAGAGGGAGAGAGAGGGAGAGGGAGTGAGAGAGAGAGG GAGAGAGAGGGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0064 a0002c0064	a0002c0064t0001 a0002c0064t0001	a0002c0064t0001g0139 a0002c0064t0001g0139	1	256	0.0039	567	c.22 others(578): Show c.2268_*2269insGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAG GGAGAGGGAGGGGTAGGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGG GGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGG AGAGGGAGAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAG GGAGGGGAGGGGGGAGAGGGAGGGGAGGGGGAGAGGGGGGAGAGAGAGGG AGGGGGCGGGAGGGGAGGGAGGGGGAGGGAGAGGGACAGGGAGAGGGAGG GAGAGGGAGAGAGGGAGGGAGAGGGAGAGGGAGGGAGAGGGAGGGAGAGG GAGGGAGAGGGAGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGA GGGAGGGGGGAGGGAGAGAGATGGGGGAGGGGGAGGGAGAGGGATGGGGA GGGAGAGGGATGGGGGAGGGAGAGGGACAGGGGGAGGGAGAAGGAGAGGG AGAGGGGGAGGGAGAGGGAGAGAGAGGGAGAGGGAGAGAGAGGGAGAGGG AGTGAGAGAGAGAGGGAGAGAGAGGGAGAGAGA	STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding		1886		chr12	TogoVar
STAB2_chr12_103582273_103771719	103768606	G G	GGAGGGAG others(560): Show GGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTAGG GGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGACAGG GACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGGGAGGGAGAGAGGGGGA GGGAGAGGGACAGGGAGAGGGAGAGAGAGAGGTGAGGGGAGAGAGGAGGA GGGAGGGGAGAGGGAGAGGGAGGGGAGAGGGGGGAGAGGGTGAGGGGAGG GTGGGAGGAGGGAGAGGGAGAGGGAGGGAGGTGGTGGAGGGAGGAGGGAG GAGAGGGACAGGGAGAGGGAGGGAGAGGGAGAGAGGGAGGGAGAGGGAGG GAGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAG ATGGGGGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGG GAGAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGA GAGAGAGGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGA GAGAGGGAGAGAGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0048 a0048	a0048c0141 a0048c0141	a0048c0141t0003 a0048c0141t0003	a0048c0141t0003g0248 a0048c0141t0003g0248	1	256	0.0039	567	c.22 others(578): Show c.2270_*2271insGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGG AGAGGGAGGGGTAGGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGG AGGGAGAGGGACAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGGG AGGGAGAGAGGGGGAGGGAGAGGGACAGGGAGAGGGAGAGAGAGAGGTGA GGGGAGAGAGGAGGAGGGAGGGGAGAGGGAGAGGGAGGGGAGAGGGGGGA GAGGGTGAGGGGAGGGTGGGAGGAGGGAGAGGGAGAGGGAGGGAGGTGGT GGAGGGAGGAGGGAGGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGAGAG GGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAG GGGGGAGGGAGAGAGATGGGGGAGGGGGAGGGAGAGGGATGGGGGAGGGA GAGGGATGGGGGAGGGAGAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAG GGGGAGGGAGAGGGAGAGAGAGGGAGAGGGAGAGAGAGGGAAAGGGAGTG AGAGAGAGAGGGAGAGAGAGGGAGAGAGAGGGA	STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding		1888		chr12	TogoVar
TINAGL1_chr1_31571515_31592686	31579040	G G	GTTTAATT others(560): Show GTTTAATTTCAGTGAGAGCTGGTATGTGTGTGTGTGTGTGTGATGTCTTC AGTTATAGCTTAATTTCAGTGAGAGCTGGTGTGTGTGTGTGTGTGTGTTG TCTTCAGTATAGCTTAATTTCAGTGAGAGCTGGTGTGTGTGTGTGTGATG TCTTCAGTTATAGTTTAATTTCAGTGAGAGCTGGTGTGTGTGTGTGTGTG TGTGTGTGTGATGTCTTCAGTTATAGCTTAATCTCAGTGAGAGCTGGTGT GTGTGTGTGTGTGTGATGTCTTCAGTTATAGTTTAATTTCAGTGAGAGCT GGTGTGTGTGTGTGTGATGTCTTCAGTTATAGTTTAATTTCAGTGAGAGC TGGTGTGTGTGTGTGTGATGTCTTCAGTTATAGCTTAATCTCAGTGAGAG CTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGATATCTTCAGTTATAGTT TGGCTTCAATTTCAGTGAGAGCTGTTGTGTGTGTGTGTGTGATGTCTTCA GTTATAGTTTAATTTCAGTGAGAGCTGTTGTGTCTATGTGTGTGTGTGTG TGATGTCTTCAGTTATAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	440	0.0023	567	c.311 others(582): Show c.311-125_311-124insTGATGTCTTCAGTTATAGCTTAATTTCAGT GAGAGCTGGTGTGTGTGTGTGTGTGTGTTGTCTTCAGTATAGCTTAATTT CAGTGAGAGCTGGTGTGTGTGTGTGTGATGTCTTCAGTTATAGTTTAATT TCAGTGAGAGCTGGTGTGTGTGTGTGTGTGTGTGTGTGTGATGTCTTCAG TTATAGCTTAATCTCAGTGAGAGCTGGTGTGTGTGTGTGTGTGTGATGTC TTCAGTTATAGTTTAATTTCAGTGAGAGCTGGTGTGTGTGTGTGTGATGT CTTCAGTTATAGTTTAATTTCAGTGAGAGCTGGTGTGTGTGTGTGTGATG TCTTCAGTTATAGCTTAATCTCAGTGAGAGCTGGTGTGTGTGTGTGTGTG TGTGTGTGTGTGATATCTTCAGTTATAGTTTGGCTTCAATTTCAGTGAGA GCTGTTGTGTGTGTGTGTGTGATGTCTTCAGTTATAGTTTAATTTCAGTG AGAGCTGTTGTGTCTATGTGTGTGTGTGTGTGATGTCTTCAGTTATAATT TAATTTCAGTGAGAGCTGGTATGTGTGTGTGTGTGTG	TINAGL1	ENSG00000142910.16	transcript	ENST00000271064.12	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
TMC6_chr17_78102397_78133755	78115614	G G	GAGGAGCG others(560): Show GAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGT GGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAG GGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAG GGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGG CACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGG CGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGA GTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCAC AGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGA AGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTG GGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGG GGCGAAGGGAGTGGGCAC	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0050 a0004c0006t0002g0050	1	444	0.0023	567	c.227 others(586): Show c.2277+1654_2277+1655insGTGCCCACTCCCTTCGCCCCTGTGCC CACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCT TCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCT GTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCAC TCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCG CTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTG CCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCC CTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTC CTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCC ACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTT CGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCT	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115614	G G	GAGGGGCG others(560): Show GAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCG AAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGT GGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAG GAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAG GGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGG CACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGG CGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGA GTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCAC AGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGA AGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTG GGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGG GGCGAAGGGAGTGGGCAC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0070 a0002c0002t0002g0070	1	444	0.0023	567	c.227 others(586): Show c.2277+1654_2277+1655insGTGCCCACTCCCTTCGCCCCTGTGCC CACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCT TCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCT GTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCAC TCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCG CCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTG CCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCC CTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCC CTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCC ACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTT CGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTG TGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCT	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(560): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAG TGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGG AGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0346 a0001c0001t0078g0346	1	444	0.0023	567	c.227 others(586): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTC GCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGT GCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTC CCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCC CCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115639	G G	GGCGAAGG others(560): Show GGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGG AGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0271 a0001c0001t0003g0271	1	444	0.0023	567	c.227 others(586): Show c.2277+1629_2277+1630insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTC CCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCC CCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar

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Search Results (Total: 10000 hits)