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
APBB2_chr4_40805027_41219542	41159940	G G	GAGGAGGA others(302): Show GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGAAG GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAG GAGAAGGAGA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0027 a0002c0001t0027	a0002c0001t0027g0018 a0002c0001t0027g0018	1	192	0.0052	309	c.-41 others(330): Show c.-416-16799_-416-16798insTCTCCTTCTCCTTCTCCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	1/17			chr4	TogoVar
ARFGAP1_chr20_63267813_63294790	63294164	G G	GGGGATGC others(302): Show GGGGATGCGGTGGGGGGGAGGGGGGGAGTGCGGGGGGGAGGGGGGAGGGG TGCGGGGGGAGGGGGAGTGCGGGGGGAGGGGAGTGCGGGGAGGGAGGGGG AGGGGAGTGCGGGGGGAGGGGAGTGCGGGGGGGGAGGGGGAGTGCGGGGG GAGGGGAGTGCGGGGGTAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGG GAGGGGGAGTGTGGGGGGGGAGGGAGGAGCGGGCGGGGAGGGGAGAGTGG AGGCCTGGGGAGCGGAGTGGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCT GCCGAGGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	342	0.0029	309	c.62 others(320): Show c.6291_*6292insGGGATGCGGTGGGGGGGAGGGGGGGAGTGCGGGG GGGAGGGGGGAGGGGTGCGGGGGGAGGGGGAGTGCGGGGGGAGGGGAGTG CGGGGAGGGAGGGGGAGGGGAGTGCGGGGGGAGGGGAGTGCGGGGGGGGA GGGGGAGTGCGGGGGGAGGGGAGTGCGGGGGTAGGGGGAGTGCGGGGGAA GGGGGAGTGCGGGGGGAGGGGGAGTGTGGGGGGGGAGGGAGGAGCGGGCG GGGAGGGGAGAGTGGAGGCCTGGGGAGCGGAGTGGGGGAAGGGGGAGTGC GGGGGGAGCGGGGCTGCCGAGGAGC	ARFGAP1	ENSG00000101199.13	transcript	ENST00000370283.9	protein_coding		4375		chr20	TogoVar
ARHGAP24_chr4_85470150_86007666	85549217	T T	TAAGAAAT others(302): Show TAAGAAATTGCCAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC TGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTAGTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0019 a0001c0005t0019	a0001c0005t0019g0070 a0001c0005t0019g0070	1	108	0.0093	309	c.-20 others(328): Show c.-20-21293_-20-21292insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTAGTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAGAAATTGCCA	ARHGAP24	ENSG00000138639.18	transcript	ENST00000395184.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGDIG_chr16_275591_288010	285902	T T	TCCCAACC others(302): Show TCCCAACCCCAACCCCAACCCCAACCCCAACCCCAACACCAACCCCGCGG TTCTCCCAACCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAA CCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGTTCTCCC AACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTC CCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCA ACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCC CAACCCCAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0043 a0001c0001t0007g0043	1	442	0.0023	309	c.30 others(320): Show c.3088_*3089insCCCAACCCCAACCCCAACCCCAACCCCAACCCCA ACACCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCAACC CCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAA CCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCC AACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTC CCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCA ACCCCGCGGTTCTCCCAACCCCAAC	ARHGDIG	ENSG00000242173.10	transcript	ENST00000219409.8	protein_coding		2893		chr16	TogoVar
ARHGEF10_chr8_1818926_1963641	1873521	C C	CCCGCGGG others(302): Show CCCGCGGGGTAGTGCACCTGCATTTCCTCGTTGCGTTGAGAGGTGCCCGC GGGGTAGCGCACCTGCATTTCCTCGTTGCGTTGAGAGGTGCCCGCGGGGT AGTGCACCCGCATTTCCTCGTTGCCTTGAGAGGTGCCGCGGGGTAGTGCA CCCGCATTTCCTCGTTGCGTTGAGAGGCGCCCGCGGGGTAGTGCACCCGC ATTTCCTAGTTGCCTTGAGAGGTGCCGCGGGGTAGTGCACCCGCATTTCC TCGTTGCGTTGAGAGGCGCCCGCGGGGTAGTGCATCCGCATTTCCTCGCG TTGAGAGGTA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0354 a0001c0001t0004g0354	1	363	0.0028	309	c.680 others(326): Show c.680-3033_680-3032insTGCATTTCCTCGTTGCGTTGAGAGGTGC CCGCGGGGTAGCGCACCTGCATTTCCTCGTTGCGTTGAGAGGTGCCCGCG GGGTAGTGCACCCGCATTTCCTCGTTGCCTTGAGAGGTGCCGCGGGGTAG TGCACCCGCATTTCCTCGTTGCGTTGAGAGGCGCCCGCGGGGTAGTGCAC CCGCATTTCCTAGTTGCCTTGAGAGGTGCCGCGGGGTAGTGCACCCGCAT TTCCTCGTTGCGTTGAGAGGCGCCCGCGGGGTAGTGCATCCGCATTTCCT CGCGTTGAGAGGTACCGCGGGGTAGTGCACC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1873603	A A	AGAGGTGC others(302): Show AGAGGTGCCCGCGGGGTAGTGCACCCGCATTTCCTAGTTGCCTTGAGAGG TGCCGCGGGGTAGTGCACCCACATTTCCTCGTTGCGTTGAGAGGTGCCCG CGGGGTAGTGCACCCGCATTTCCTCGTTTCATTGAGGTGCCCGCGGGGTA GTGCACCCGCATTTCCTCGTTGCGTTGAGAGGCGCCCGCGGGGTAGTGCA CCCGCATTTCCTAGTTGCCTTGAGAGGTGCCGCGGGGTAGTGCACCCACA TTTCCTCGTTGCGTTGAGAGGTGCCCGCGGGGTAGTGCACCCGCATTTCC TCGTTTCATT	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18974.hp2 NA18961.hp2 NA18974.hp2	a0001 a0001	a0001c0070 a0001c0071 a0001c0070 a0001c0071	a0001c0070t0001 a0001c0071t0002 a0001c0070t0001 a0001c0071t0002	a0001c0070t0001g0130 a0001c0071t0002g0131 a0001c0070t0001g0130 a0001c0071t0002g0131	2	363	0.0055	309	c.680 others(326): Show c.680-2899_680-2898insACATTTCCTCGTTGCGTTGAGAGGTGCC CGCGGGGTAGTGCACCCGCATTTCCTCGTTTCATTGAGGTGCCCGCGGGG TAGTGCACCCGCATTTCCTCGTTGCGTTGAGAGGCGCCCGCGGGGTAGTG CACCCGCATTTCCTAGTTGCCTTGAGAGGTGCCGCGGGGTAGTGCACCCA CATTTCCTCGTTGCGTTGAGAGGTGCCCGCGGGGTAGTGCACCCGCATTT CCTCGTTTCATTGAGGTGCCCGCGGGGTAGTGCACCCGCATTTCCTAGTT GCCTTGAGAGGTGCCGCGGGGTAGTGCACCC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARL13A_chrX_100964708_100995831	100972833	G G	GGGCGGGG others(302): Show GGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCC GGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCC CTCACCTCCCAGACGGGGCGGCTGGCCGGGTGGAGGGCTGACCCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTAACCCCCCCAC CTCCCTCCCAGACGGGGCGGCTGGCCGGGTGGGAGGGCTGACCCCCCCCA TCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	280	0.0036	309	c.-14 others(324): Show c.-14-841_-14-840insCGGGGGGGCTGACCCCCCCACCTCCCTCCC AGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGTGG AGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGG GGGGCTAACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGTGGG AGGGCTGACCCCCCCCATCTCCCTCCCGG	ARL13A	ENSG00000174225.15	transcript	ENST00000450049.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARL13A_chrX_100964708_100995831	100972833	G G	GGGCGGGG others(302): Show GGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGC CGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGC CCCTCACCTCCCAGACGGGGCGGCTGGCCGGGTGGAGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTAACCCCCCCA CCTCCCTCCCAGACGGGGCGGCTGGCCGGGTGGGAGGGCTGACCCCCCCA TCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	280	0.0036	309	c.-14 others(324): Show c.-14-841_-14-840insCGGGGGGGCTGACCCCCCCCACCTCCCTCC CAGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGT GGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCG GGGGGCTAACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGTGG GAGGGCTGACCCCCCCATCTCCCTCCCGG	ARL13A	ENSG00000174225.15	transcript	ENST00000450049.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMH3_chr10_101840599_102061173	102000595	C C	CAAAAAAT others(302): Show CAAAAAATACATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02976.hp1 HG03195.hp1 others(1): Show HG02451.hp2 HG02976.hp1 HG03195.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0064 a0001c0001t0001g0065 others(1): Show a0001c0001t0001g0033 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066	4	262	0.0153	309	c.115 others(328): Show c.1150+1375_1150+1376insTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTATGTATTTTTT	ARMH3	ENSG00000120029.13	transcript	ENST00000370033.9	protein_coding	15/25			chr10	TogoVar
ART3_chr4_76069709_76117786	76102655	T T	TAATATTA others(302): Show TAATATTAACTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGAC TACAGGCACTCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGA CGGGGTTTCATCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACC GCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA19065.hp1 NA18978.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0164 a0001c0001t0001g0115 a0001c0001t0001g0164	2	392	0.0051	309	c.938 others(326): Show c.938-1269_938-1268insTTTTTTTTTTTTTTTTGAGACGGAGTTT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGTGTA GCTGGGACTACAGGCACTCGCCACCATGCCCGGCTAATTTTTGTATTTTT AGTAGAGACGGGGTTTCATCGTGTTACCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCAT GAGCCACCGCGCCCGGCCAATATTAACTTTT	ART3	ENSG00000156219.18	transcript	ENST00000355810.9	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
ASAP1_chr8_130047104_130448674	130049764	T T	TGGGGGGC others(302): Show TGGGGGGCAGAGGAGAACACATGGGGGCAGAGGAGAACACATGGGGGCAG AGGGGAATACATGGGGGCAGAGGAGAATACATGGGGGCAGAGGAGAACAC ATGGAGGGCAGAGGGGAATACATGGGGGCAGAGGAGAACACATGGGGGGC AGAGGAGAACACATGGGGGCAGAGGAGAACACATGGGGGGCAGAGGGGAA TACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGG GGCAGAGGGGGAACACATGGGGGCAGAGGAGAATACATGGAGGGCAGAGG AGAACACATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0006 a0001c0001t0009g0006	1	308	0.0033	309	c.49 others(320): Show c.4966_*4967insCATGTGTTCTCCTCTGCCCTCCATGTATTCTCCT CTGCCCCCATGTGTTCCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCC ATGTGTTCTCCTCTGCCCCCCATGTATTCCCCTCTGCCCCCCATGTGTTC TCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCC CCCATGTATTCCCCTCTGCCCTCCATGTGTTCTCCTCTGCCCCCATGTAT TCTCCTCTGCCCCCATGTATTCCCCTCTGCCCCCATGTGTTCTCCTCTGC CCCCATGTGTTCTCCTCTGCCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2339		chr8	TogoVar
ASXL2_chr2_25728753_25883487	25789269	T T	TAAGAATC others(302): Show TAAGAATCTGACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCG GATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCC CGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCT GTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGG GAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGG GCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0003 a0001c0001t0017g0003	1	222	0.0045	309	c.403 others(328): Show c.403+10115_403+10116insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAG TGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAC GCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTA GCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTC CCAAAGTGCTGGGATTACAGGCGTCAGATTCTT	ASXL2	ENSG00000143970.18	transcript	ENST00000435504.9	protein_coding	5/12			chr2	TogoVar
ATF1_chr12_50759101_50826162	50776326	A A	AAAAAAAT others(302): Show AAAAAAATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00741.hp1 HG01074.hp2 others(22): Show HG00140.hp1 HG00741.hp1 HG01074.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01192.hp1 HG01256.hp2 HG01891.hp2 HG02040.hp1 HG02280.hp1 HG02559.hp2 HG02602.hp1 HG02622.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp2 HG02965.hp2 HG03139.hp2 HG03195.hp2 HG03239.hp2 HG03654.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0003t0004 a0001c0001t0001 a0001c0001t0004 a0001c0003t0004	a0001c0001t0001g0016 a0001c0001t0001g0307 a0001c0001t0001g0308 others(21): Show a0001c0001t0001g0016 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0343 a0001c0001t0004g0338 a0001c0001t0004g0339 a0001c0001t0004g0340 a0001c0001t0004g0342 a0001c0001t0004g0346 a0001c0001t0004g0347 a0001c0001t0004g0356 a0001c0003t0004g0309 a0001c0003t0004g0341 a0001c0003t0004g0344 a0001c0003t0004g0345 a0001c0003t0004g0348 a0001c0003t0004g0358 a0001c0003t0004g0359 a0001c0003t0004g0360	25	382	0.0655	309	c.-6- others(324): Show c.-6-3799_-6-3798insTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCTAAAAAATTTTTTTTT	ATF1	ENSG00000123268.9	transcript	ENST00000262053.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
ATF1_chr12_50759101_50826162	50776326	A A	AAAAAAAT others(302): Show AAAAAAATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTG CGCCCGGCCT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0349 a0001c0001t0004g0349	1	382	0.0026	309	c.-6- others(324): Show c.-6-3799_-6-3798insTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACTGCGCCCGGCCTAAAAAATTTTTTTTT	ATF1	ENSG00000123268.9	transcript	ENST00000262053.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
ATF1_chr12_50759101_50826162	50776326	A A	AAAAAAAT others(302): Show AAAAAAATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0350 a0001c0001t0004g0350	1	382	0.0026	309	c.-6- others(324): Show c.-6-3799_-6-3798insTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCTAAAAAATTTTTTTTT	ATF1	ENSG00000123268.9	transcript	ENST00000262053.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
AXIN1_chr16_282440_357723	285902	T T	TCCCAACC others(302): Show TCCCAACCCCAACCCCAACCCCAACCCCAACCCCAACACCAACCCCGCGG TTCTCCCAACCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAA CCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGTTCTCCC AACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTC CCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCA ACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCC CAACCCCAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0023 a0001c0004t0023	a0001c0004t0023g0181 a0001c0004t0023g0181	1	378	0.0027	309	c.22 others(320): Show c.2219_*2220insGTTGGGGTTGGGAGAACCGCGGGGTTGGGGTTGG GGTTGGGGTTGGGAGAACCGCGGGGTTGGGGTTGGGGTTGGGAGAACCGC GGGGTTGGGGTTGGGGTTGGGGTTGGGAGAACCGCGGGGTTGGGGTTGGG AGAACCGCGGGGTTGGGGTTGGGGTTGGGAGAACCGCGGGGTTGGGGTTG GGGTTGGGAGAACCGCGGGGTTGGGGTTGGGAGAACCGCGGGGTTGGGGT TGGGGTTGGGGTTGGGGTTGGGAGAACCGCGGGGTTGGTGTTGGGGTTGG GGTTGGGGTTGGGGTTGGGGTTGGG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1537		chr16	TogoVar
B3GNTL1_chr17_82937149_83056770	83003159	G G	GTCCGCGT others(302): Show GTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCGCCCTCCGCGTGTGGGA TTCCTGAGCCCGCCCTCCCGCCCTCCGCAGTCCGCGTGTGGGATTCCTGA GCCCGCCCTCCCGCCCTCCGCGTGTGGGATTCCTGAGCTCGCCCTCCCAC TCTCTGCAGTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCGCCCTCCGC GTGTGGGATTCCTGAGCCCGCCCTCCCGCCCTCCGCGTGTGGGATTCCTG AGCCCGCCCTCCCGCCCTCCGCAGTCCGCGTGTGGGATTCCTGAGCCCGC CCTCCCGCCC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0239 a0001c0001t0022g0239	1	266	0.0038	309	c.459 others(326): Show c.459+1955_459+1956insGGGCGGGAGGGCGGGCTCAGGAATCCCA CACGCGGACTGCGGAGGGCGGGAGGGCGGGCTCAGGAATCCCACACGCGG AGGGCGGGAGGGCGGGCTCAGGAATCCCACACGCGGAGGGCGGGAGGGCG GGCTCAGGAATCCCACACGCGGACTGCAGAGAGTGGGAGGGCGAGCTCAG GAATCCCACACGCGGAGGGCGGGAGGGCGGGCTCAGGAATCCCACACGCG GACTGCGGAGGGCGGGAGGGCGGGCTCAGGAATCCCACACGCGGAGGGCG GGAGGGCGGGCTCAGGAATCCCACACGCGGA	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
BAG3_chr10_119646380_119682819	119675903	C C	CCTTTCCC others(302): Show CCTTTCCCCCTTCCCCCCTTCCTTCCTGCCCCCTTCCCCCTTGCCCCCTT CTCCCCTTCCTTCCTTCCTTCCTTCCCCCCTTCCCTGCTTCCTTCCCCCT TCCCCCTTCCCTCCTTCCTTCCTGCCCCCTTCCCCCTTGCCCCTTCCCCC TTCCCTCCTTCCTTCCTTCCTGCCCCCTTCCCCCTTGCCCCCTTCTCCCC TTCCTTCCTTCCTTCCTTCCCCCCTTCCCCTTTTCCCCCCTTCCCCCCTT CCTTCCTTCCCCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCC TCCCTTCCTT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	420	0.0024	309	c.910 others(324): Show c.910-560_910-559insTTTCCCCCTTCCCCCCTTCCTTCCTGCCCC CTTCCCCCTTGCCCCCTTCTCCCCTTCCTTCCTTCCTTCCTTCCCCCCTT CCCTGCTTCCTTCCCCCTTCCCCCTTCCCTCCTTCCTTCCTGCCCCCTTC CCCCTTGCCCCTTCCCCCTTCCCTCCTTCCTTCCTTCCTGCCCCCTTCCC CCTTGCCCCCTTCTCCCCTTCCTTCCTTCCTTCCTTCCCCCCTTCCCCTT TTCCCCCCTTCCCCCCTTCCTTCCTTCCCCCCTTCCTTCCTTCCTTCCTC CCTCCCTCCCTCCCTCCCTCCCTTCCTTC	BAG3	ENSG00000151929.10	transcript	ENST00000369085.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
BBS9_chr7_33124564_33611069	33143869	T T	TGTGTATC others(302): Show TGTGTATCTTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02615.hp1 homoSapiens_chm13v2.hp1 HG02615.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0037 a0001c0001t0004g0007 a0001c0001t0003g0037 a0001c0001t0004g0007	2	268	0.0075	309	c.-11 others(326): Show c.-11-2360_-11-2359insTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCGTGTATCTTCTTT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAS1_chr20_53938541_54075594	54021397	T T	TAAAAAAA others(302): Show TAAAAAAAAAGTACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAG CCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0013 a0013	a0013c0013 a0013c0013	a0013c0013t0047 a0013c0013t0047	a0013c0013t0047g0350 a0013c0013t0047g0350	1	364	0.0028	309	c.723 others(326): Show c.723+6994_723+6995insTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGCATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCGTACTTTTTTTTT	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	4/12			chr20	TogoVar
BOK_chr2_241553745_241579131	241570842	G G	GTGGGGGT others(302): Show GTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGT GGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTG CGAGGGTGCAGACGTACGGGAGGGAATGGCGGATGGGTGAGCGTCTGAGC GCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGG GAGTGGCGGATGGGTGAGCGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGG GGTGCGAGGGTGCAGAGGTACGGGAGGGAATGGCGGATGGGTGAGCCTCT GAGCGCCTGT	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0249 a0001c0001t0002g0249	1	434	0.0023	309	c.513 others(324): Show c.513+554_513+555insTGGGGGTGGGAGAGCTGGGGTGCGAGGGTG CAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGTGG GGGTGGGAGAGCTGGGGTGCGAGGGTGCAGACGTACGGGAGGGAATGGCG GATGGGTGAGCGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAG GGTGCAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGCGTCTGAGCGCCT GTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAAT GGCGGATGGGTGAGCCTCTGAGCGCCTGT	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	4/4			chr2	TogoVar
BOK_chr2_241553745_241579131	241570842	G G	GTGGGGGT others(302): Show GTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGT GGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTG CGAGGGTGCAGACGTACGGGAGGGAATGGCGGATGGGTGAGCGTCTGAGC GCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGG GAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGG GGTGCGAGGGTGCAGAGGTACGGGAGGGAATGGCGGATGGGTGAGCCTCT GAGCGCCTGT	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	434	0.0023	309	c.513 others(324): Show c.513+554_513+555insTGGGGGTGGGAGAGCTGGGGTGCGAGGGTG CAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGTGG GGGTGGGAGAGCTGGGGTGCGAGGGTGCAGACGTACGGGAGGGAATGGCG GATGGGTGAGCGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAG GGTGCAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCT GTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAAT GGCGGATGGGTGAGCCTCTGAGCGCCTGT	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	4/4			chr2	TogoVar
BSN_chr3_49549477_49676549	49606248	T T	TATTATAT others(302): Show TATTATATATACATATATTATATATGTATATATTATATATACATATATTA TATATGTATATATTATATATACATATATTATATATGTATATATTATATAT ACATATATAATATATGTATATATTATATATACATATATTATATATGTATT ATATATACATATATTATATATGTATATATTATATATAAAATATATATAAT ATATATTAAAAATATATATTATATATATTAAAAATATATATAATATATAT TAAAAATATATATTATATATATTAAAATATATATATAATATATATTAAAA ATATATATTA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0027 a0003c0004t0004g0027	1	186	0.0054	309	c.225 others(328): Show c.225-18727_225-18726insATTATATATACATATATTATATATGT ATATATTATATATACATATATTATATATGTATATATTATATATACATATA TTATATATGTATATATTATATATACATATATAATATATGTATATATTATA TATACATATATTATATATGTATTATATATACATATATTATATATGTATAT ATTATATATAAAATATATATAATATATATTAAAAATATATATTATATATA TTAAAAATATATATAATATATATTAAAAATATATATTATATATATTAAAA TATATATATAATATATATTAAAAATATATATTA	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11			chr3	TogoVar
BSN_chr3_49549477_49676549	49606248	T T	TATTATAT others(302): Show TATTATATATACATATATTATATATGTATATATTATATATACATATATTA TATATGTATATATTATATATACATATATTATATATGTATATATTATATAT ACATATATTATATATGTATATATTATATATACATATATTATATATGTATT ATATATACATATATTATATATGTATATATTATATATAAAATATATATAAT ATATATTAAAAATATATATTATATATATTAAAAATATATATAATATATAT TAAAAATATATATTATATATATTAAAATATATATATAATATATATTAAAA ATATATATTA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0028 a0003c0004t0004g0028	1	186	0.0054	309	c.225 others(328): Show c.225-18727_225-18726insATTATATATACATATATTATATATGT ATATATTATATATACATATATTATATATGTATATATTATATATACATATA TTATATATGTATATATTATATATACATATATTATATATGTATATATTATA TATACATATATTATATATGTATTATATATACATATATTATATATGTATAT ATTATATATAAAATATATATAATATATATTAAAAATATATATTATATATA TTAAAAATATATATAATATATATTAAAAATATATATTATATATATTAAAA TATATATATAATATATATTAAAAATATATATTA	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11			chr3	TogoVar
BTD_chr3_15596745_15658714	15597657	T T	TGGATCAT others(302): Show TGGATCATAATCTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTC TCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0250 a0001c0002t0003g0250	1	416	0.0024	309	c.-42 others(320): Show c.-4254_-4253insGGATCATAATCTTTGTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTG CAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCAC TACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTT TTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGC CTCCCAAAGTGCTGGGATTACAGGC	BTD	ENSG00000169814.17	transcript	ENST00000643237.3	protein_coding		4087		chr3	TogoVar
C10orf90_chr10_126419997_126675693	126564835	T T	TATATATA others(302): Show TATATATATAATATATATAATATATAATATATATTATATATAATATATAT TATATATAATATATAATATATATTATATATAATATAATTATATATTATAT ATAATATTATAATATATTATATATAATATATATTATATATAATATATATT ATATATAATATATATTATATATTATATAAAATAATATTATATATAATATA TATTATATATTATATATAATATATAATATATATTATATATAATATATATT ATATAAAATATATATTATATATAATATATATTATATATTATATAATATAT ATTATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0001 a0008c0015t0001	a0008c0015t0001g0160 a0008c0015t0001g0160	1	218	0.0046	309	c.314 others(328): Show c.314-50897_314-50896insTATATATAATATATATTATATAATAT ATAATATATATTATATATAATATATATTTTATATAATATATATTATATAT AATATATATTATATATTATATATAATATATAATATATATTATATATAATA TTATTTTATATAATATATAATATATATTATATATAATATATATTATATAT AATATATATTATATATAATATATTATAATATTATATATAATATATAATTA TATTATATATAATATATATTATATATTATATATAATATATATTATATATA ATATATATTATATATTATATATATTATATATAT	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C19orf67_chr19_14076624_14090783	14090084	C C	CCGGCGGC others(302): Show CCGGCGGCTGTGGCGGCGGCGGCAGCGGCGGCTCCCGGGCGGCGACGGCG GGCGGGGGGGCGCGGCGCGGGCCGGCCGGGGGCGCCACCGCCGGGGGAGC GGCTGGCGCGGGCGGCGGCGCGGCCAGGGGCGCGGCCCGCTGCGCGCGGG GGCCCGGCTGCGCGGGGCCAGGCGAGGGGGGCGCTGTGGCGGCGGCGGCG GCCGCGCGGGGCGCCCGGGCCGGGGCGGCGGCGGCGACGGGCGCGGGCGG TGGCGGCGGGGCGGGCGTGGGCGGCGGCGCGGCGGCGGCGGGGGCCCCGC GGGGGGCGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG03669.hp1 HG01255.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0035 a0001c0001t0001g0003 a0001c0001t0001g0035	2	394	0.0051	309	c.-44 others(320): Show c.-4458_-4457insCGCGCCCCCCGCGGGGCCCCCGCCGCCGCCGCGC CGCCGCCCACGCCCGCCCCGCCGCCACCGCCCGCGCCCGTCGCCGCCGCC GCCCCGGCCCGGGCGCCCCGCGCGGCCGCCGCCGCCGCCACAGCGCCCCC CTCGCCTGGCCCCGCGCAGCCGGGCCCCCGCGCGCAGCGGGCCGCGCCCC TGGCCGCGCCGCCGCCCGCGCCAGCCGCTCCCCCGGCGGTGGCGCCCCCG GCCGGCCCGCGCCGCGCCCCCCCGCCCGCCGTCGCCGCCCGGGAGCCGCC GCTGCCGCCGCCGCCACAGCCGCCG	C19orf67	ENSG00000188032.10	transcript	ENST00000548523.6	protein_coding		4302		chr19	TogoVar
C19orf67_chr19_14076624_14090783	14090084	C C	CCGGCGGC others(302): Show CCGGCGGCTGTGGCGGCGGCGGCTCCCGGGCGGCGACGGCGGGCGGGGGG GCGCGGCGCGGGCCGGCCGGGGGCGCCACCGCCGGGGGAGCGGCTGGCGC GGGCGGCGGCGCGGCCAGGGGCGCGGCCCGCTGCGCGCGGGGGCCCGGCT GCGCGGGGCCAGGCGAGGGGGGCGCTGTGGCGGCGGCGGCGGCCGCGCGG GGCGCCCGGGCCGGGGCGGCGGCGGCGACGGGCGCGGGCGGTGGCGGCGG GGCGGGCGTGGGCGGCGGCGCGGCGGCGGCGGCGGCGGCGGGGGCCCCGC GGGGGGCGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	394	0.0025	309	c.-44 others(320): Show c.-4458_-4457insCGCGCCCCCCGCGGGGCCCCCGCCGCCGCCGCCG CCGCCGCGCCGCCGCCCACGCCCGCCCCGCCGCCACCGCCCGCGCCCGTC GCCGCCGCCGCCCCGGCCCGGGCGCCCCGCGCGGCCGCCGCCGCCGCCAC AGCGCCCCCCTCGCCTGGCCCCGCGCAGCCGGGCCCCCGCGCGCAGCGGG CCGCGCCCCTGGCCGCGCCGCCGCCCGCGCCAGCCGCTCCCCCGGCGGTG GCGCCCCCGGCCGGCCCGCGCCGCGCCCCCCCGCCCGCCGTCGCCGCCCG GGAGCCGCCGCCGCCACAGCCGCCG	C19orf67	ENSG00000188032.10	transcript	ENST00000548523.6	protein_coding		4302		chr19	TogoVar
C20orf96_chr20_265863_295750	278941	C C	CGGGACGG others(302): Show CGGGACGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGCGGGAGGGCG GGACGGAGGGACGGAGGGAGGGCGGGACGGAGGGCGGGAGGGCGGGACGG AGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAG GGAGGGAGGGAGGGACGGAGGGCGGGACGGCGGGAGGGGCGGGACGGAGG GACGGAGGGAGGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGAGGGA GGGCGGGACGGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGG GCGGGACGGA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0206 a0002c0004t0001g0206	1	410	0.0024	309	c.465 others(324): Show c.465+230_465+231insTCCGTCCCGCCCTCCCTCCCTCCGTCCCGC CCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCGCCC TCCCGCCCTCCGTCCCGCCCTCCCTCCGTCCCTCCGTCCCGCCCCTCCCG CCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCC CTCCGTCCCGCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCGCCCT CCGTCCCGCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCGCCGTCCCGCC CTCCGTCCCTCCCTCCCTCCCTCCGTCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C3orf52_chr3_112081389_112123210	112113165	A A	AAGTCAGA others(302): Show AAGTCAGAGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCT GGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCAG GGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0101	1	372	0.0027	309	c.649 others(322): Show c.649+31_649+32insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCAGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAGAGTCAGAGTTG	C3orf52	ENSG00000114529.13	transcript	ENST00000264848.10	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
C8orf34_chr8_68325955_68824023	68694256	T T	TGGGAATA others(302): Show TGGGAATATTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCT TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACT ACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGA TCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0043 a0001c0005t0001g0043	1	128	0.0078	309	c.124 others(330): Show c.1242-14725_1242-14724insTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCA GTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCGGGAATATTTTTT	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
CACNA1C_chr12_2047987_2702950	2407255	C C	CACATCGT others(302): Show CACATCGTCTCCACCGACACCATGTGGGTACTGGGGAGCCTCATCATGAC CCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCCTGATAAGTGTGCA GTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGGAGCCTCATCAT GACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCCTGATAAGTGT GCAGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGGAGCCTCAT CATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCCTGATAAG TGTGCAGTGG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0041 a0001c0038t0041	a0001c0038t0041g0047 a0001c0038t0041g0047	1	104	0.0096	309	c.478 others(328): Show c.478-41580_478-41579insCTCATCATGACCCAGTGGGAAGGAAC GTCCTTTTGATAATAGCCGTCCTGATAAGTGTGCAGTGGACATCGTCTCC ACCGACACCATGTGGGTACTGGGGAGCCTCATCATGACCCAGTGGGAAGG AACGTCCTTTTGATAATAGCCGTCCTGATAAGTGTGCAGTGGACATCGTC TCCACCGACACCATGTGGGTACTGGGGAGCCTCATCATGACCCAGTGGGA AGGAACGTCCTTTTGATAATAGCCGTCCTGATAAGTGTGCAGTGGACATC GTCTCCACCGACACCATGTGGGTACTGGGGAGC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2407397	T T	TTCATCAT others(302): Show TTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCCTG ATAAGTGTGCAGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGG AGCCTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTC CTGATAAGTGTGCAGTGGACATCGTCTCCACCGACACCATGTGGGTACTG GGGAGCCTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCC GTCCTGATAAGTGTGCAGTGGACATCGTCTCCACCGACACCATGTGGGTA CTGGGGAGCC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0055 a0001c0001t0021g0055	1	104	0.0096	309	c.478 others(328): Show c.478-41314_478-41313insAGTGGACATCGTCTCCACCGACACCA TGTGGGTACTGGGGAGCCTCATCATGACCCAGTGGGAAGGAACGTCCTTT TGATAATAGCCGTCCTGATAAGTGTGCAGTGGACATCGTCTCCACCGACA CCATGTGGGTACTGGGGAGCCTCATCATGACCCAGTGGGAAGGAACGTCC TTTTGATAATAGCCGTCCTGATAAGTGTGCAGTGGACATCGTCTCCACCG ACACCATGTGGGTACTGGGGAGCCTCATCATGACCCAGTGGGAAGGAACG TCCTTTTGATAATAGCCGTCCTGATAAGTGTGC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2407457	A A	AGTGGACA others(302): Show AGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGGAGCCTCATCA TGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCCTGATAAGTG TGCAGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGGAGCCTCA TCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCCTGATAA GTGTGCGGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGGAGCC TCATCATGACGCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCCTGA TAAGTGTGCG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0027 a0001c0021t0027	a0001c0021t0027g0087 a0001c0021t0027g0087	1	104	0.0096	309	c.478 others(328): Show c.478-41296_478-41295insCGACACCATGTGGGTACTGGGGAGCC TCATCATGACGCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCCTGA TAAGTGTGCGGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGGA GCCTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCC TGATAAGTGTGCAGTGGACATCGTCTCCACCGACACCATGTGGGTACTGG GGAGCCTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCG TCCTGATAAGTGTGCGGTGGACATCGTCTCCAC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2407628	C C	CGTCCTTT others(302): Show CGTCCTTTTGATAATAGCCGTCCTGATAAGTGTGCAGTGGACATCGTCTC CACCGACACCATGTGGGTACTGGGGAGCCTCATCATGACCCAGTGGGAAG GAACGTCCTTTTGATAATAGCCGTCCTGATAAGTGTGCAGTGGACATCGT CTCCACTGACACCATGTGGGTACTGGGGAGCCTCATCATGACCCAGTGGG AAGGAATGTCCTTTTGATAATAGCCGTCCTGATAAGTGTGCAGTGGACAT CGTCTCCACTGACACCATGTGGGTACTGGGGAGCCTCATCATGACCCAGT GGGAAGGAAT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0058 a0001c0001t0022g0058	1	104	0.0096	309	c.478 others(328): Show c.478-41314_478-41313insAGTGGACATCGTCTCCACCGACACCA TGTGGGTACTGGGGAGCCTCATCATGACCCAGTGGGAAGGAACGTCCTTT TGATAATAGCCGTCCTGATAAGTGTGCAGTGGACATCGTCTCCACTGACA CCATGTGGGTACTGGGGAGCCTCATCATGACCCAGTGGGAAGGAATGTCC TTTTGATAATAGCCGTCCTGATAAGTGTGCAGTGGACATCGTCTCCACTG ACACCATGTGGGTACTGGGGAGCCTCATCATGACCCAGTGGGAAGGAATG TCCTTTTGATAATAGCCGTCCTGATAAGTGTGC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2407663	G G	GGTGGACA others(302): Show GGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGGAGCCTCATCA TGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCCTGATAAGTG TGCGGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGGAGCCTCA TCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCCTGATAA GTGTGCGGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGGAGCC TCATCATGACCCAGTGGGAAGGAATGTCCTTTTGATAATAGCCGTCCTGA TAAGTGTGCA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0008 a0001c0001t0004g0008	1	104	0.0096	309	c.478 others(328): Show c.478-41296_478-41295insCGACACCATGTGGGTACTGGGGAGCC TCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCCTGA TAAGTGTGCGGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGGA GCCTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCC TGATAAGTGTGCGGTGGACATCGTCTCCACCGACACCATGTGGGTACTGG GGAGCCTCATCATGACCCAGTGGGAAGGAATGTCCTTTTGATAATAGCCG TCCTGATAAGTGTGCAGTGGACATCGTCTCCAC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2407706	C C	CTCATCAT others(302): Show CTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCCTG ATAAGTGTGCAGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGG AGCTTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTC CTGATAAGTGTGCGGTGGACATCGTCTCCACCGACACCATGTGGGTACTG GGGAGCCTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCC GTCCTGATAAGTGTGCAGTGGACATCGTCTCCACCGACACCATGTGGGTA CTGGGGAGCT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0042 a0001c0001t0005g0042	1	104	0.0096	309	c.478 others(328): Show c.478-41246_478-41245insCGTCCTTTTGATAATAGCCGTCCTGA TAAGTGTGCAGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGGA GCTTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCC TGATAAGTGTGCGGTGGACATCGTCTCCACCGACACCATGTGGGTACTGG GGAGCCTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCG TCCTGATAAGTGTGCAGTGGACATCGTCTCCACCGACACCATGTGGGTAC TGGGGAGCTTCATCATGACCCAGTGGGAAGGAA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CAP1_chr1_40035729_40077648	40059014	T T	TTGCAAAT others(302): Show TTGCAAATTCTAACTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCGAGTAGCTGGGACTA CAGGCGCCCGCCACGACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGC GGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGAT CCGCCCGCCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0202 a0001c0001t0003g0202	1	378	0.0027	309	c.-10 others(324): Show c.-10-305_-10-304insTTTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCGAGTAGCTGGGACT ACAGGCGCCCGCCACGACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGG CGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGA TCCGCCCGCCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCTGCAAATTCTAACTTTCT	CAP1	ENSG00000131236.18	transcript	ENST00000372805.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN15_chr16_522712_559636	544777	T T	TCGTCGTC others(302): Show TCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCG CCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCC CCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTC GCCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCC TCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCC CCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCC CCCACGTCGC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0265 a0001c0008t0001g0265	1	410	0.0024	309	c.-22 others(326): Show c.-22-2036_-22-2035insGTCTCCCCCACGTCGCCTCCCCCCACGT CGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCC CCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCCACGTCG CCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCC CCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCC CCCACGTCGCCGTCTCCCCCACGTCGCCGTC	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(302): Show CCTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCC CACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCC CCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCC ACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGCCTCCCCTCACATCGCCTCCCCCACGTCGTCGCCT CCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCC ACGTCGTCGT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0321 a0001c0001t0005g0321	1	410	0.0024	309	c.-22 others(326): Show c.-22-1985_-22-1984insCACGTCGCCTCCCCCACGTCGCCTCCCC CACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCA CGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCC ACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACATCGCCTCCC CCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCC ACGTCGCCTCCCCCACGTCGTCGTCTCCCCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CATSPERB_chr14_91575698_91737086	91658709	T T	TAAAAAAA others(302): Show TAAAAAAAGGAAGGGAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATTGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03209.hp2 HG03130.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0112 a0001c0002t0002g0252 a0001c0001t0001g0112 a0001c0002t0002g0252	2	271	0.0074	309	c.143 others(328): Show c.1432+1127_1432+1128insTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCAATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCAT GAGCCACCGCGCCCGGCCTCCCTTCCTTTTTTT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	15/26			chr14	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(302): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCTCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCC CCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCC ACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0161 a0001c0001t0003g0161	1	410	0.0024	309	c.-22 others(320): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC88A_chr2_55282842_55424856	55297381	A A	AAATATAT others(302): Show AAATATATAATATATATTATATATAAATATATATAATATATATTATATAT AATATATATAATATATATAATATATATTATATATTATATATAAATATATA TAATATATATTATATAATATATATTATATATAAATATATATAATATATAA TATATATTATATATAATATATAATATATAATATATATTATATATAAATAT ATATAATATATAATATATATTATATATAAATATATATAATATATAATATA TATTATATATAAATATATATAATATATAATATATATTATATATAAATATA TATAATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG03540.hp2 HG01346.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0082 a0001c0002t0010g0083 a0001c0002t0010g0082 a0001c0002t0010g0083	2	316	0.0063	309	c.482 others(326): Show c.4826-859_4826-858insATATATTATATATATTTATATATAATAT ATATTATATATTATATATATTTATATATAATATATATTATATATTATATA TATTTATATATAATATATATTATATATTATATATATTTATATATAATATA TATTATATATTATATATTATATATAATATATATTATATATTATATATATT TATATATAATATATATTATATAATATATATTATATATATTTATATATAAT ATATAATATATATTATATATATTATATATATTATATATAATATATATTAT ATATATTTATATATAATATATATTATATATT	CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	29/32			chr2	TogoVar
CCDC91_chr12_28185456_28555166	28264365	T T	TAATAATT others(302): Show TAATAATTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGAC TACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGA CGGGGTTTCATCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01071.hp1 HG01243.hp1 others(10): Show HG00323.hp2 HG01071.hp1 HG01243.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01515.hp2 HG01517.hp1 HG02683.hp2 HG03831.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0230 a0003c0003t0001g0231 a0003c0003t0001g0232 others(10): Show a0003c0003t0001g0230 a0003c0003t0001g0231 a0003c0003t0001g0232 a0003c0003t0001g0233 a0003c0003t0001g0234 a0003c0003t0001g0235 a0003c0003t0001g0236 a0003c0003t0001g0237 a0003c0003t0001g0238 a0003c0003t0001g0239 a0003c0003t0001g0240 a0003c0003t0001g0241 a0003c0003t0001g0242	13	242	0.0537	309	c.109 others(326): Show c.109+4936_109+4937insTTTTTTTTTTTTTTTTGAGACGGAGTTT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGTGTA GCTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTTTT AGTAGAGACGGGGTTTCATCGTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCAATAATTTTTTTT	CCDC91	ENSG00000123106.11	transcript	ENST00000536442.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCR9_chr3_45881543_45908174	45890256	G G	GAAATATA others(302): Show GAAATATATATATATATTTATATAAATATATATATAACATATATATATAT TTATATAAATATATATATAACATATATATATATTTATATAAATATATATA TAACATATATATATATTTATATAAATATATATATAACATATATATATTTA TATAAATATATATATAACATATATATATTTATATAAATATATATATAACA TATATATATATTTATATAAATATATATATAACATATATATATTTATATAA ATATATATATAACATATATATATTTATATAAATATATATATAACATATAT ATATTTATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00558.hp2 others(59): Show HG00408.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG01071.hp1 HG01081.hp2 HG01109.hp2 HG01192.hp1 HG01192.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01358.hp2 HG01943.hp1 HG02165.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG03669.hp1 HG03927.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 NA18612.hp2 NA18943.hp1 NA18944.hp1 NA18947.hp2 NA18949.hp2 NA18959.hp1 NA18962.hp2 NA18968.hp1 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18977.hp1 NA18983.hp1 NA18987.hp2 NA18988.hp1 NA18992.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp1 NA19001.hp1 NA19004.hp1 NA19007.hp2 NA19011.hp1 NA19054.hp2 NA19056.hp1 NA19066.hp1 NA19072.hp1 NA19086.hp1 NA19090.hp2 NA19091.hp1 NA20752.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0009 a0001c0001 a0005c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0005c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0001g0026 others(15): Show a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0126 a0001c0001t0001g0149 a0001c0001t0003g0020 a0001c0001t0009g0002 a0005c0009t0001g0094	62	424	0.1462	309	c.-29 others(326): Show c.-29+3614_-29+3615insTATTTATATAAATATATATATAACATAT ATATATATTTATATAAATATATATATAACATATATATATATTTATATAAA TATATATATAACATATATATATATTTATATAAATATATATATAACATATA TATATTTATATAAATATATATATAACATATATATATTTATATAAATATAT ATATAACATATATATATATTTATATAAATATATATATAACATATATATAT TTATATAAATATATATATAACATATATATATTTATATAAATATATATATA ACATATATATATTTATATAAATATATATATA	CCR9	ENSG00000173585.18	transcript	ENST00000357632.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
CCR9_chr3_45881543_45908174	45890256	G G	GAAATATA others(302): Show GAAATATATATATATATTTATATAAATATATATATAACATATATATATAT TTATATAAATATATATATAACATATATATGTATTTATATAAATATATATA TAACATATATATATATTTATATAAATATATATATAACATATATATATTTA TATAAATATATATATAACATATATATATTTATATAAATATATATATAACA TATATATATATTTATATAAATATATATATAACATATATATATTTATATAA ATATATATATAACATATATATATTTATATAAATATATATATAACATATAT ATATTTATAT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	424	0.0024	309	c.-29 others(326): Show c.-29+3614_-29+3615insTATTTATATAAATATATATATAACATAT ATATATATTTATATAAATATATATATAACATATATATGTATTTATATAAA TATATATATAACATATATATATATTTATATAAATATATATATAACATATA TATATTTATATAAATATATATATAACATATATATATTTATATAAATATAT ATATAACATATATATATATTTATATAAATATATATATAACATATATATAT TTATATAAATATATATATAACATATATATATTTATATAAATATATATATA ACATATATATATTTATATAAATATATATATA	CCR9	ENSG00000173585.18	transcript	ENST00000357632.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
CD300A_chr17_74461634_74489794	74482698	C C	CTTCCTTC others(302): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0253 a0002c0003t0004g0253	1	424	0.0024	309	c.774 others(324): Show c.774+867_774+868insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTT	CD300A	ENSG00000167851.15	transcript	ENST00000360141.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
CD300E_chr17_74604885_74628738	74624067	T T	TAAAACAC others(302): Show TAAAACACCCTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC TGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCG GGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGAGATCGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGCCTCAAAAAAAA AAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG03209.hp2 NA18993.hp1 HG02896.hp1 HG03209.hp2 NA18993.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0002c0002t0002 a0003c0003t0003 a0002c0002t0001 a0002c0002t0002 a0003c0003t0003	a0002c0002t0001g0065 a0002c0002t0002g0066 a0003c0003t0003g0030 a0002c0002t0001g0065 a0002c0002t0002g0066 a0003c0003t0003g0030	3	450	0.0067	309	c.-44 others(318): Show c.-447_-446insTTTTTTTTTTTTTTTTTTGAGGCGGAGTTTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGG ACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCGAGGGTGTTTT	CD300E	ENSG00000186407.7	transcript	ENST00000392619.2	protein_coding		330		chr17	TogoVar
CDC42SE2_chr5_131259053_131399672	131324473	T T	TCAAAGAC others(302): Show TCAAAGACTTACATTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCG CCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCCC CCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03041.hp1 HG02647.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0240 a0001c0001t0009g0241 a0001c0001t0009g0240 a0001c0001t0009g0241	2	256	0.0078	309	c.-28 others(328): Show c.-286+8345_-286+8346insTTTTTTTTTTTTTGAGACGGAGTCTC GCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGC TCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCCAAAGACTTACATTTT	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDH4_chr20_61247261_61945617	61795134	A A	AATGGTGA others(302): Show AATGGTGATGGTGATGATGATGGTAGTGATGATGGTGATGGTAGTGATAA TGGTGATGATGATGGTGATGGTAGTGATGGTGGTGATGATGGTAATGGTA GTGATGATGGTGATGGTAGTGATAATGGTGATGATGGTGATGATGATGGT AGTAATGATGATGATGGTAGTGATGATGGTGATGGTAGTGATAATGGTGA TGATGGTGATGGCGATGGTAGTGATGGTGATGATGGTGATGATGATGGTA GTGATAATGGGGATGATGATGGTGATGGTAGTGATGATGGTGATGATGGT AATGGTAGTG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00639.hp2 HG01081.hp2 others(16): Show HG00408.hp2 HG00639.hp2 HG01081.hp2 HG01106.hp1 HG01123.hp2 HG01243.hp1 HG01433.hp2 HG01884.hp2 HG01978.hp2 HG02040.hp1 HG02145.hp2 HG03130.hp1 HG03195.hp2 HG03704.hp1 HG04204.hp1 NA18941.hp1 NA18960.hp1 NA19030.hp1 NA19240.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0020 others(5): Show a0001c0001 a0001c0003 a0001c0020 a0002c0002 a0002c0004 a0002c0005 a0002c0008 a0004c0019	a0001c0001t0001 a0001c0001t0002 a0001c0003t0052 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0052 a0001c0020t0006 a0002c0002t0004 a0002c0002t0005 a0002c0002t0012 a0002c0002t0014 a0002c0002t0022 a0002c0004t0002 a0002c0004t0003 a0002c0004t0026 a0002c0005t0015 a0002c0008t0025 a0004c0019t0001	a0001c0001t0001g0006 a0001c0001t0002g0007 a0001c0001t0002g0059 others(16): Show a0001c0001t0001g0006 a0001c0001t0002g0007 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0003t0052g0064 a0001c0020t0006g0094 a0002c0002t0004g0077 a0002c0002t0005g0022 a0002c0002t0012g0082 a0002c0002t0014g0062 a0002c0002t0022g0105 a0002c0004t0002g0080 a0002c0004t0003g0011 a0002c0004t0026g0050 a0002c0005t0015g0069 a0002c0008t0025g0024 a0004c0019t0001g0015	19	106	0.1793	309	c.576 others(328): Show c.576+21955_576+21956insGTGATGGTGATGATGATGGTAGTGAT GATGGTGATGGTAGTGATAATGGTGATGATGATGGTGATGGTAGTGATGG TGGTGATGATGGTAATGGTAGTGATGATGGTGATGGTAGTGATAATGGTG ATGATGGTGATGATGATGGTAGTAATGATGATGATGGTAGTGATGATGGT GATGGTAGTGATAATGGTGATGATGGTGATGGCGATGGTAGTGATGGTGA TGATGGTGATGATGATGGTAGTGATAATGGGGATGATGATGGTGATGGTA GTGATGATGGTGATGATGGTAATGGTAGTGATG	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr20	TogoVar

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Search Results (Total: 10000 hits)