Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
C8orf82_chr8_144520733_144534111	144531859	G G	GGGCTAGA others(229): Show GGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAG GTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGG GAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAGGCACGGCAGAAGGGCA CAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAGGCACGGC AGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	398	0.0025	236	c.-29 others(247): Show c.-2944_-2943insTACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCT TCTGCCGTGCCTGCTATGTCTAGCCTACTCCCCACCTGCTGCTCCCTGCC CTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCTACTCCCCACCTGCTG CTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCC CACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAG CC	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2749		chr8	TogoVar
CADM1_chr11_115164236_115509415	115328703	T T	TATATACA others(229): Show TATATACATATATACGCGTATATATATGTATATACATATATACGCGTATA TATATGTATATACATATATACGCGTATATATATGTATATACATATATACG CGTATATATATGTATATACATATATACGCGTATATATATGTATATACATA TATATACGCGTATATATATGTATATACATATATATACGCGTATATATATG TATATACATATATATACGCGTATATATATGTATATAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0143 a0001c0001t0061g0143	1	164	0.0061	236	c.125 others(255): Show c.125-88284_125-88283insGTATATACATATATATACGCGTATAT ATATGTATATACATATATATACGCGTATATATATGTATATACATATATAT ACGCGTATATATATGTATATACATATATATACGCGTATATATGTATATAC ATATATATACGCGTATATATGTATATACATATATATACGCGTATATATGT ATATACATATATATACGCGTATATATGTATATACATATATATACGCGTAT ATATGTATAT	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM1_chr11_115164236_115509415	115328703	T T	TATATACA others(229): Show TATATACATATATACGCGTATATATATGTATATACATATATACGCGTATA TATATGTATATACATATATACGCGTATATATATGTATATACATATATATA CGCGTATATATATGTATATACATATATACGCGTATATATATGTATATACA TATATATACGCGTATATATGTATATACATATATATACGCGTATATATATG TATATACATATATATACGCGTATATATATGTATATAC	intron_variant intron_variant	MODIFIER	HG02300.hp2 NA19070.hp1 HG02300.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0024 a0001c0001t0016 a0001c0001t0024	a0001c0001t0016g0139 a0001c0001t0024g0122 a0001c0001t0016g0139 a0001c0001t0024g0122	2	164	0.0122	236	c.125 others(255): Show c.125-88284_125-88283insGTATATACATATATATACGCGTATAT ATATGTATATACATATATATACGCGTATATATATGTATATACATATATAC GCGTATATATATGTATATACATATATATACGCGTATATATGTATATACAT ATATATACGCGTATATATATGTATATACATATATATACGCGTATATATGT ATATACATATATATACGCGTATATATGTATATACATATATATACGCGTAT ATATGTATAT	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CALD1_chr7_134774634_134975729	134929621	C C	CACACACA others(229): Show CACACACATATATGTATGTGTATATACACACACATATATGTATGTGTATA TACACACACATATATGTATGTGTATATACACACACATATATGTATGTGTA TATACACACACATATATGTGTGTGTATATACACACACATATATGTGTGTG TATATACACACACATATATGTGTGTGTATATATACACACATATATGTGTG TGTATATATACACACACATATACACACACGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA19070.hp1 NA18953.hp1 NA19070.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0118 a0002c0002t0002g0114 a0002c0002t0001g0118 a0002c0002t0002g0114	2	262	0.0076	236	c.218 others(251): Show c.218+721_218+722insACACACATATATGTATGTGTATATACACAC ACATATATGTATGTGTATATACACACACATATATGTATGTGTATATACAC ACACATATATGTATGTGTATATACACACACATATATGTGTGTGTATATAC ACACACATATATGTGTGTGTATATACACACACATATATGTGTGTGTATAT ATACACACATATATGTGTGTGTATATATACACACACATATACACACACGT GTGTGT	CALD1	ENSG00000122786.20	transcript	ENST00000361675.7	protein_coding	4/14			chr7	TogoVar
CAMKK1_chr17_3855315_3898053	3868229	G G	GCAGTCTA others(229): Show GCAGTCTAACTGATACACAGGATCTGGGGGAGAAGCAGGCGCAGTCTAAC TGATACGTGGGCACGGGGGAGATGCAGGCACCGTCTAACTGATACGCGGG ATCTGGGGGAGACGCAGGCCCGTCTAACTGATACGTGGGCTCTGGGGGAG AAGCAGGCGCAGTCTAACTGATACGTGGGCACGGGGGAGATGCAGGCACC GTCTAACTGATACACAGGATCTGGGGGAGACGCAGGC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0006 a0002c0001t0006	a0002c0001t0006g0186 a0002c0001t0006g0186	1	446	0.0022	236	c.134 others(255): Show c.1341+1257_1341+1258insGCCTGCGTCTCCCCCAGATCCTGTGT ATCAGTTAGACGGTGCCTGCATCTCCCCCGTGCCCACGTATCAGTTAGAC TGCGCCTGCTTCTCCCCCAGAGCCCACGTATCAGTTAGACGGGCCTGCGT CTCCCCCAGATCCCGCGTATCAGTTAGACGGTGCCTGCATCTCCCCCGTG CCCACGTATCAGTTAGACTGCGCCTGCTTCTCCCCCAGATCCTGTGTATC AGTTAGACTG	CAMKK1	ENSG00000004660.15	transcript	ENST00000348335.7	protein_coding	14/15			chr17	TogoVar
CAPN15_chr16_522712_559636	544721	C C	CCTCCCCC others(229): Show CCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCC CCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCC ACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCC GTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGC CGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG03017.hp1 others(1): Show HG00408.hp2 HG00423.hp1 HG03017.hp1 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0021 a0001c0001 a0001c0002 a0001c0021	a0001c0001t0002 a0001c0001t0025 a0001c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0025 a0001c0002t0001 a0001c0021t0002	a0001c0001t0002g0230 a0001c0001t0025g0216 a0001c0002t0001g0172 others(1): Show a0001c0001t0002g0230 a0001c0001t0025g0216 a0001c0002t0001g0172 a0001c0021t0002g0224	4	410	0.0098	236	c.-22 others(253): Show c.-22-2081_-22-2080insGTCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCT CCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCA CGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCC ACGTCGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	544729	A A	ACGTCGCC others(229): Show ACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTC GTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCC TCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCC CACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCC CCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0396 a0001c0001t0002g0396	1	410	0.0024	236	c.-22 others(253): Show c.-22-2081_-22-2080insGTCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCT CCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCA CGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACG TCGTCGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CASQ2_chr1_115695021_115773714	115761402	A A	AAGAAGAA others(229): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGGGGAAGG GGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAG GGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGAAGAA GGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0318 a0002c0003t0001g0318	1	364	0.0028	236	c.234 others(253): Show c.234+6905_234+6906insCTTCTTCTTCTTCTTCTTCCTCTCCTTC TCCTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCT TCCCCTTCCCCTTCCCCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(229): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGA AGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGG GAGAGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0004 a0003c0012t0004	a0003c0012t0004g0244 a0003c0012t0004g0244	1	364	0.0028	236	c.234 others(253): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCT CTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(229): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGG GGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAG AGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0346 a0002c0004t0004g0346	1	364	0.0028	236	c.234 others(253): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTC CCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTTCCCCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761458	A A	AAGAAGAA others(229): Show AAGAAGAAGAAGAAGAAGAAGAGGAGGAAGAAGAAGAAGAAGAAGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGG GGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGG AGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0003 a0001c0010t0003	a0001c0010t0003g0208 a0001c0010t0003g0208	1	364	0.0028	236	c.234 others(253): Show c.234+6849_234+6850insCCTTCTCCTTCTCCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCT TCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCCTCCTCTTCTTCTTCTT CTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761458	A A	AAGAAGAA others(229): Show AAGAAGAAGAAGAAGAAGAAGAGGAGGAAGAAGAAGAAGAAGAAGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGG GGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGG AGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0173 a0001c0002t0003g0173	1	364	0.0028	236	c.234 others(253): Show c.234+6849_234+6850insCCTTCTCCTTCTCCTTCTCCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCT TCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCCTCCTCTTCTTCTTCTT CTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761476	A A	AAGAAGAA others(229): Show AAGAAGAAGAAGAGGAGGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGA GGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGAAGA AGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0195 a0001c0001t0002g0195	1	364	0.0028	236	c.234 others(253): Show c.234+6831_234+6832insCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCT CCTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTC CCCTTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCCTCCTCTT CTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761476	A A	AAGGGGAA others(229): Show AAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGG GGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGG AGGGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAG AAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0138 a0001c0002t0001g0138	1	364	0.0028	236	c.234 others(253): Show c.234+6831_234+6832insCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCC TCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCC CTTCCCCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761479	A A	AGGAGGAA others(229): Show AGGAGGAAGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGG GAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGG GGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAGG AGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0188 a0001c0002t0003g0188	1	364	0.0028	236	c.234 others(253): Show c.234+6828_234+6829insCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCC TCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCC TTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTT CTTCCTCC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(229): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCT CCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCC TCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	410	0.0024	236	c.-22 others(247): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC88C_chr14_91266323_91422820	91293558	G G	GCCTGCCA others(229): Show GCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTC CTGCCCCCTCGCCTGCCACAGCCCACCTTCCTGCCCCCTCGCCTGCCACA GCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTC GCCTGCCACAGCTCACCTTCCCATCCTCACCTGCCACAGCCCACCTTCCT GCCCCCTCGCCTGCCACAGCTCACCTTCCCATCCTCA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0221 a0001c0018t0001g0221	1	284	0.0035	236	c.411 others(253): Show c.4112+614_4112+615insTGAGGATGGGAAGGTGAGCTGTGGCAGG CGAGGGGGCAGGAAGGTGGGCTGTGGCAGGTGAGGATGGGAAGGTGAGCT GTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAGG AAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGCAGGCG AGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCC GTGGCAGG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCDC88C_chr14_91266323_91422820	91293570	C C	CCACCTTC others(229): Show CCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTTCCTGCCCCCTCGC CTGCCACAGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTCCT GCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACAGC TCACCTTCCCATCCTCACCTGCCACAGCCCACCTTCCTGCCCCCTCGCCT GCCACAGCTCACCTTCCCATCCTCACCTGCCACAGCT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	284	0.0035	236	c.411 others(253): Show c.4112+602_4112+603insAGCTGTGGCAGGTGAGGATGGGAAGGTG AGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGCAGGTGAGGATG GGAAGGTGAGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGG CGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGG CTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCA GGAAGGTG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CD226_chr18_69848274_69952873	69894561	A A	AGGGGAGG others(229): Show AGGGGAGGGGAGGGAGGGGAGGGGAGGGGAGGGAGGGAAGGGAGGGAAGG GAGGGAAGGGAGGGAAGGGAGGGGAGGGGAGGGGAGCAGATGGGGGCAGG GGAGGGGAGTGGATGGGGGCAGGGGAGGGGAGGGGAGGGGGAGGGAGACC GGAAGGGGAGGGAGACGGGGAGGGGAGGGAGACGGGGAGGGGGAGGGCAG GGGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02451.hp1 HG02976.hp1 others(2): Show HG01884.hp2 HG02451.hp1 HG02976.hp1 HG03139.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0055 a0001c0001t0086 others(1): Show a0001c0001t0045 a0001c0001t0055 a0001c0001t0086 a0001c0001t0092	a0001c0001t0045g0244 a0001c0001t0045g0245 a0001c0001t0055g0009 others(2): Show a0001c0001t0045g0244 a0001c0001t0045g0245 a0001c0001t0055g0009 a0001c0001t0086g0071 a0001c0001t0092g0057	5	256	0.0195	236	c.727 others(253): Show c.727+1139_727+1140insCTCCCCTCCCCTTCCCCTCCCCTCCCCT TCCCCTCCCCTGCCCTCCCCCTCCCCGTCTCCCTCCCCTCCCCGTCTCCC TCCCCTTCCGGTCTCCCTCCCCCTCCCCTCCCCTCCCCTGCCCCCATCCA CTCCCCTCCCCTGCCCCCATCTGCTCCCCTCCCCTCCCCTCCCTTCCCTC CCTTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCCTCCCCTCCCCTCCCTC CCCTCCCC	CD226	ENSG00000150637.9	transcript	ENST00000582621.6	protein_coding	3/5			chr18	TogoVar
CELF2_chr10_11012872_11341675	11284390	A A	ATGAGTGT others(229): Show ATGAGTGTGTGGTGAGTGGATGAGGGATGAGTGTGTGGTGGGTGGATGAT GGATGGAGGAGTGGGTGGATGATGGATGACTGTGTGGTAGGTGGATGATG GATGAGTGTGTGGTGGGTGGATGAGGGATGAGTGCGTGGTGGGTGGATGA GGGATGAGTGCGTGGTGGGTGGGTGAGGGATGAGTGTGTGGTGGGTGGAT GAGGGATGAGTGTGTGGTGGGTGGATGAGGGATGAGT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0166 a0001c0008t0003g0166	1	194	0.0052	236	c.842 others(253): Show c.842-4028_842-4027insTGAGTGTGTGGTGAGTGGATGAGGGATG AGTGTGTGGTGGGTGGATGATGGATGGAGGAGTGGGTGGATGATGGATGA CTGTGTGGTAGGTGGATGATGGATGAGTGTGTGGTGGGTGGATGAGGGAT GAGTGCGTGGTGGGTGGATGAGGGATGAGTGCGTGGTGGGTGGGTGAGGG ATGAGTGTGTGGTGGGTGGATGAGGGATGAGTGTGTGGTGGGTGGATGAG GGATGAGT	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	8/12			chr10	TogoVar
CENPJ_chr13_24877279_24927861	24881947	G G	GATATATA others(229): Show GATATATAATCTATATAGATATATAATCTATATAGATATATAGATACATC TATATAGATATATAGATACATCTATATAGATATATAGATACATCTATATA GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATA CATCTATATATAGATACATCTATATATAGATACATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0243 a0001c0002t0006g0243	1	440	0.0023	236	c.12 others(247): Show c.1229_*1230insAGATGTATCTATATATAGATGTATCTATATATAG ATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGAT GTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGT ATCTATATAGATGTATCTATATATCTATATAGATGTATCTATATATCTAT ATAGATGTATCTATATATCTATATAGATTATATATCTATATAGATTATAT AT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		331		chr13	TogoVar
CFAP46_chr10_132803392_132947570	132887600	T T	TTCTCTCT others(229): Show TTCTCTCTCCTCTCCTCTCCTCTTCTCTCCTCTCCCTTCTTCTCTCTCCT CTCCTCTCTCCTCTTTCACCTCTCTCTCTCCTCTCCTCTCTCTCTCCTCT CCTCTCTCTCTCCGCTCCTCTCTCTCTCCTCTCCCCTCTTCTCTCTCTCC TCTCCCCTCTTCTCTCCTCTCCCTTCTTCTCTCTCCTCTCCTCTCCCCTC TTCTCTCCTCTCCCCTCTTCTCTCCTCTCCCTTCTTC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0066 a0066	a0066c0077 a0066c0077	a0066c0077t0001 a0066c0077t0001	a0066c0077t0001g0127 a0066c0077t0001g0127	1	246	0.0041	236	c.330 others(255): Show c.3305-1642_3305-1641insGAAGAAGGGAGAGGAGAGAAGAGGGG AGAGGAGAGAAGAGGGGAGAGGAGAGGAGAGAGAAGAAGGGAGAGGAGAG AAGAGGGGAGAGGAGAGAGAGAAGAGGGGAGAGGAGAGAGAGAGGAGCGG AGAGAGAGAGGAGAGGAGAGAGAGAGGAGAGGAGAGAGAGAGGTGAAAGA GGAGAGAGGAGAGGAGAGAGAAGAAGGGAGAGGAGAGAAGAGGAGAGGAG AGGAGAGAGA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132887600	T T	TTCTCTCT others(229): Show TTCTCTCTCCTCTCCTCTCTCCTCTTCTCTCCTCTCCCTTCTTCTCTCTC CTCTCCTCTCTCCTCTTTCACCTCTCTCTCTCCTCTCCTCTCTCTCTCCT CTCCTCTCTCTCTCCGCTCCTCTCTCTCTCCTCTCCCCTCTTCTCTCTCT CCTCTCCCCTCTTCTCTCCTCTCCCTTCTTCTCTCCTCTCCTCTCCCCTC TTCTCTCCTCTCCCCTCTTCTCTCCTCTCCCTTCTTC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0023 a0023	a0023c0062 a0023c0062	a0023c0062t0001 a0023c0062t0001	a0023c0062t0001g0210 a0023c0062t0001g0210	1	246	0.0041	236	c.330 others(255): Show c.3305-1642_3305-1641insGAAGAAGGGAGAGGAGAGAAGAGGGG AGAGGAGAGAAGAGGGGAGAGGAGAGGAGAGAAGAAGGGAGAGGAGAGAA GAGGGGAGAGGAGAGAGAGAAGAGGGGAGAGGAGAGAGAGAGGAGCGGAG AGAGAGAGGAGAGGAGAGAGAGAGGAGAGGAGAGAGAGAGGTGAAAGAGG AGAGAGGAGAGGAGAGAGAAGAAGGGAGAGGAGAGAAGAGGAGAGAGGAG AGGAGAGAGA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132888594	G G	GCACCCCT others(229): Show GCACCCCTGCCACCTTCACCCCTGCCACCTTCACCCCTGCCACCTTCACC CCTGCCGCCTGCACCCCTGCCGCCTGCACCCCTGCCACCTTCACCCCTGC CACCTGCACCCCTGCCGCCTTCACCCCTGCCGCCTGCACCTGCCACCTTC ACCCCTGCCGCCTTCACCCCTGCCGCCTTCACCCCTGCCACCTTCACCCC TGCCGCCTGCACCTGCCACCTTCACCCCTGCCACCTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0068 a0068	a0068c0071 a0068c0071	a0068c0071t0002 a0068c0071t0002	a0068c0071t0002g0003 a0068c0071t0002g0003	1	246	0.0041	236	c.330 others(255): Show c.3305-2636_3305-2635insAAGGTGGCAGGGGTGAAGGTGGCAGG TGCAGGCGGCAGGGGTGAAGGTGGCAGGGGTGAAGGCGGCAGGGGTGAAG GCGGCAGGGGTGAAGGTGGCAGGTGCAGGCGGCAGGGGTGAAGGCGGCAG GGGTGCAGGTGGCAGGGGTGAAGGTGGCAGGGGTGCAGGCGGCAGGGGTG CAGGCGGCAGGGGTGAAGGTGGCAGGGGTGAAGGTGGCAGGGGTGAAGGT GGCAGGGGTG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CFAP61_chr20_20047532_20365698	20337314	A A	ATAGATGG others(229): Show ATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGATGGATAAAT GGATGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGGTGG GTGGATGGATGGATGGATAGATGGATAGATGGGTGGG	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0011 a0011	a0011c0018 a0011c0018	a0011c0018t0003 a0011c0018t0003	a0011c0018t0003g0122 a0011c0018t0003g0122	1	236	0.0042	236	c.342 others(255): Show c.3423-4516_3423-4515insAGATGGGTGGGTGGATGGATGGATGG ATAGATGGGTGGATGGATAAATGGATGGATGGATGGATGGATAGATGGGT GGGTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAG ATGGATAGATGGGTGGGTGGATGGATGGATGGATGGATGGATGGATGGAT GGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAG ATGGGTGGGT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CHD5_chr1_6096787_6185321	6160131	G G	GGCCCCAG others(229): Show GGCCCCAGCAAGGGAAGAGCCCCAGCCAGGGAAGGGCCCCAGCCAGAGAA GAAGAGCCCTAGCCAGGGAAGGGCCCCAGCCAGAGAAGGGCCCCAGCCAG AGAAGGAGAGCCCCAGCCAGGGAAGGGCCCCAGCCAGAGAAGAAAAGCCC CAGCCAGGGAAGGGCCTCAGCCAGAGAAGAAGAGCCACAGCCAGGGAAGG GCCCCAGCCAGAGAAGAAGAACCCCAGCCAGGGAAGA	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0195 a0001c0001t0007g0195	1	320	0.0031	236	c.208 others(251): Show c.208-617_208-616insTCTTCCCTGGCTGGGGTTCTTCTTCTCTGG CTGGGGCCCTTCCCTGGCTGTGGCTCTTCTTCTCTGGCTGAGGCCCTTCC CTGGCTGGGGCTTTTCTTCTCTGGCTGGGGCCCTTCCCTGGCTGGGGCTC TCCTTCTCTGGCTGGGGCCCTTCTCTGGCTGGGGCCCTTCCCTGGCTAGG GCTCTTCTTCTCTGGCTGGGGCCCTTCCCTGGCTGGGGCTCTTCCCTTGC TGGGGC	CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	2/41			chr1	TogoVar
CIP2A_chr3_108544864_108594438	108575563	T T	TATATATA others(229): Show TATATATACTCATATACATGTGTATATATACACGTATATATACTCATATA CATGTGTATATATACACGTATATATACTCATATACATGTGTATATATACA CGTATATATACTCATATACATGTGTATATATACACGTATATATACTCATA TACATGTGTATATATACACGTATATATACTCATATACATGTGTATATATA CACGTATATATACTCATATACATGTGTATATATACAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0155 a0003c0005t0002g0155	1	372	0.0027	236	c.894 others(251): Show c.894+707_894+708insGTGTATATATACACATGTATATGAGTATAT ATACGTGTATATATACACATGTATATGAGTATATATACGTGTATATATAC ACATGTATATGAGTATATATACGTGTATATATACACATGTATATGAGTAT ATATACGTGTATATATACACATGTATATGAGTATATATACGTGTATATAT ACACATGTATATGAGTATATATACGTGTATATATACACATGTATATGAGT ATATAT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575597	T T	TATATATA others(229): Show TATATATACTCATATACATGTGTATATATACACGTATATATACTCATATA CATGTGTATATATACACGTATATATACTCATATACATGTGTATATATACA CGTATATATACTCATATACATGTGTATATATACACGTATATATACTCATA TACATGTGTATATATACACGTATATATACTCATATACATGTGTATATATA CACGTATATATACTCATATACATGTGTATATATACAC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0352 a0003c0005t0002g0352	1	372	0.0027	236	c.894 others(251): Show c.894+673_894+674insGTGTATATATACACATGTATATGAGTATAT ATACGTGTATATATACACATGTATATGAGTATATATACGTGTATATATAC ACATGTATATGAGTATATATACGTGTATATATACACATGTATATGAGTAT ATATACGTGTATATATACACATGTATATGAGTATATATACGTGTATATAT ACACATGTATATGAGTATATATACGTGTATATATACACATGTATATGAGT ATATAT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
COL4A2_chr13_110302284_110518209	110481773	T T	TTGCTGGA others(229): Show TTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGTTC TGTCCCTCTGTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGAC ACACTGTTCTGTCCCTCCGTGCTGGAGACACACAGTTCTGTCCTTCCGTT GCTGGAGACACACTGCTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTG TCCCTCCGTGCTGGAGACACACTGCTCTGTCCCTCCG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01168.hp2 HG01169.hp1	a0010 a0010	a0010c0036 a0010c0036	a0010c0036t0021 a0010c0036t0021	a0010c0036t0021g0319 a0010c0036t0021g0320 a0010c0036t0021g0319 a0010c0036t0021g0320	2	372	0.0054	236	c.275 others(253): Show c.2759-727_2759-726insTTCTGTCCCTCCGTTGCTGGAGACACAC TGTTCTGTCCCTCTGTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTG GAGACACACTGTTCTGTCCCTCCGTGCTGGAGACACACAGTTCTGTCCTT CCGTTGCTGGAGACACACTGCTCTGTCCTTCCGTTGCTGGAGACACACTG CTCTGTCCCTCCGTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAG ACACACTG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481803	T T	TTGCTGGA others(229): Show TTGCTGGAGACACACTGTTCTGTCCCTCTGTGCTGGAGACACACTGTTCT GTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTGCTGGAGACA CACAGTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCTTCCGTT GCTGGAGACACACTGCTCTGTCCTTCCATTGCTGGAGACACACTGCTCTG TCCCTCCGTGCTGGAGACACACTGCTCTGTCCCTCCG	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0194 a0001c0014t0001g0194	1	372	0.0027	236	c.275 others(253): Show c.2759-697_2759-696insTTCTGTCCCTCTGTGCTGGAGACACACT GTTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTGCTGG AGACACACAGTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCTT CCGTTGCTGGAGACACACTGCTCTGTCCTTCCATTGCTGGAGACACACTG CTCTGTCCCTCCGTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAG ACACACTG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A3_chr2_227159624_227319792	227202888	T T	TGTATATA others(229): Show TGTATATATACGTATATATACATATATGTGTATATATACGTATATATACA TATATGTGTATATATACGTATATATACATATATGTGTATATATACGTATA TATACATATATGTGTATATATACGTATATATACATATATGTGTATATATA CATATATGTGTATATATACATATATGTGTATATATGTGTATATATACATA TATGTGTATATATACACATATATGTGTATATATACAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0204 a0005c0005t0002g0204	1	344	0.0029	236	c.88- others(253): Show c.88-35080_88-35079insGTATATATACGTATATATACATATATGT GTATATATACGTATATATACATATATGTGTATATATACGTATATATACAT ATATGTGTATATATACGTATATATACATATATGTGTATATATACGTATAT ATACATATATGTGTATATATACATATATGTGTATATATACATATATGTGT ATATATGTGTATATATACATATATGTGTATATATACACATATATGTGTAT ATATACAC	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51			chr2	TogoVar
COL6A1_chr21_45976770_46010048	45987837	C C	CGGGAGTC others(229): Show CGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGG GGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGG TCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCC AGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGAT GGAGGGGACGGCGGGGCTCCAGATGGAGGGGACGGCG	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0002 a0001c0021t0002	a0001c0021t0002g0093 a0001c0021t0002g0093	1	128	0.0078	236	c.804 others(251): Show c.804+186_804+187insAGTCCAGATGGAGGGGACGGCGGGGTCCAG ATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATG GAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAG GGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGG ACGGCGGGGTCCAGATGGAGGGGACGGCGGGGCTCCAGATGGAGGGGACG GCGGGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
CPNE7_chr16_89570758_89602246	89588069	C C	CCGTGTCA others(229): Show CCGTGTCACCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCG CGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACA GATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCC CCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCG CGTGTCACCCACAGATACACGGCCCCCGTGTCACCCG	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0177 a0001c0002t0003g0177	1	348	0.0029	236	c.928 others(251): Show c.928-601_928-600insCACCCCCGTGTCACCCACAGATACACGGCC CCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCC GCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCA CAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGC CCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCC GCGTGT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CR1L_chr1_207640133_207728703	207686128	C C	CTTCCTTC others(229): Show CTTCCTTCCTTCCTCCCTCCCTCCATCCCTCCCTCCCTCCCTCCCTCCCT CCTTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCC CTCCCTCCATCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCT TCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTC CTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	346	0.0029	236	c.463 others(253): Show c.463+2172_463+2173insTCCTTCCTTCCTCCCTCCCTCCATCCCT CCCTCCCTCCCTCCCTCCCTCCTTTCCTTCCTTCCTCCCTCCCTCCCTCC CTCCCTTCCTTCCTTCCTCCCTCCCTCCATCCCTCCCTCCCTCCCTCCCT CCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCC CTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCT CCCTCCAT	CR1L	ENSG00000197721.17	transcript	ENST00000508064.7	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CREG1_chr1_167536013_167558762	167536857	T T	TAAAATTT others(229): Show TAAAATTTCATTGAGGGTCCTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAG GCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00738.hp2 HG01069.hp2 others(44): Show HG00609.hp2 HG00738.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01496.hp2 HG01516.hp1 HG02027.hp2 HG02071.hp2 HG02074.hp1 HG02155.hp1 HG03490.hp2 HG04184.hp1 NA18944.hp2 NA18948.hp2 NA18951.hp2 NA18956.hp2 NA18959.hp1 NA18973.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18987.hp1 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA18999.hp2 NA19003.hp1 NA19005.hp1 NA19007.hp2 NA19010.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19074.hp1 NA19079.hp1 NA19082.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19090.hp1 NA19091.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0012 a0001c0003t0002 a0001c0001t0002 a0001c0001t0012 a0001c0003t0002	a0001c0001t0002g0003 a0001c0001t0002g0018 a0001c0001t0002g0028 others(7): Show a0001c0001t0002g0003 a0001c0001t0002g0018 a0001c0001t0002g0028 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0055 a0001c0001t0002g0060 a0001c0001t0002g0120 a0001c0001t0012g0053 a0001c0003t0002g0027	47	418	0.1124	236	c.54 others(247): Show c.5440_*5441insTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGC AGCCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGACCCTCAATGAAATT TT	CREG1	ENSG00000143162.9	transcript	ENST00000370509.5	protein_coding		4155		chr1	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(229): Show ATATATATATATATATATATATTTCTATATATATATATATATATATATTT CTATATATATATATATATATATATTTCTATATATATATATATATTTCTAT ATATATATATATTTCTATATATATATATTTCTATATATATATATTTCTAT ATATATATATTTCTATATATATATATTTCTATATATATATATATATTTCT ATATATATATATATATTTCTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0323 a0001c0001t0001g0323	1	370	0.0027	236	c.56 others(247): Show c.5645_*5646insTATATATATATATATATATATTTCTATATATATA TATATATATATATTTCTATATATATATATATATATATATTTCTATATATA TATATATATTTCTATATATATATATATTTCTATATATATATATTTCTATA TATATATATTTCTATATATATATATTTCTATATATATATATTTCTATATA TATATATATATTTCTATATATATATATATATTTCTATATATATATATATT TC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(229): Show ATATATATATATATATATATTTCTATATATATATATATATATATTTCTAT ATATATATATATATATATTTCTATATATATATATATATATATATATTTCT ATATATATATATATTTCTATATATATATATATTTCTATATATATATATTT CTATATATATATATTTCTATATATATATATTTCTATATATATATATTTCT ATATATATATATATATTTCTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	370	0.0027	236	c.56 others(247): Show c.5645_*5646insTATATATATATATATATATTTCTATATATATATA TATATATATTTCTATATATATATATATATATATTTCTATATATATATATA TATATATATATTTCTATATATATATATATTTCTATATATATATATATTTC TATATATATATATTTCTATATATATATATTTCTATATATATATATTTCTA TATATATATATTTCTATATATATATATATATTTCTATATATATATATATT TC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRLF2_chrX_1185490_1217649	1198275	C C	CGAAGGCA others(229): Show CGAAGGCAGGACAGCCTCCCTCCCACCTCCCGGGAAGATAGGACACCCTC CCTCCCACCTCGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCA GGACACCCTCCCTCCCACCTCGAAGGCAGGACACCCTCCCTCCCACCTCC CAGGAAGGCAGGACACCCTCCCTCCCACCTAGAAGGCAGGACACCCTCCC TCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02683.hp1 HG02683.hp2 HG01993.hp2 HG02683.hp1 HG02683.hp2	a0002 a0006 a0002 a0006	a0002c0010 a0002c0040 a0006c0028 a0002c0010 a0002c0040 a0006c0028	a0002c0010t0001 a0002c0040t0001 a0006c0028t0004 a0002c0010t0001 a0002c0040t0001 a0006c0028t0004	a0002c0010t0001g0152 a0002c0040t0001g0138 a0006c0028t0004g0133 a0002c0010t0001g0152 a0002c0040t0001g0138 a0006c0028t0004g0133	3	167	0.0180	236	c.646 others(251): Show c.646+286_646+287insTGGGAGGGAGGGTGTCCTGCCTTCCTGGGA GGTGGGAGGGAGGGTGTCCTGCCTTCTAGGTGGGAGGGAGGGTGTCCTGC CTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCGAGGTGGGAGGGAG GGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCGAGG TGGGAGGGAGGGTGTCCTATCTTCCCGGGAGGTGGGAGGGAGGCTGTCCT GCCTTC	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	5/7			chrX	TogoVar
CSMD1_chr8_2930361_4999914	3411683	T T	TATATATA others(229): Show TATATATACACATATATATACATATATACACGTGTATATATACACGTGTA TATACGTGTGTATATATACGTATATATACGTGTGTATATATACGTATATA TATACGTGTGTATATATACGTATATATATACGTGTGTATATATACGTATA TATATACGTGTGTATATATACGTATATATATACGTGTGCATATATATATA CGTATATATATATACGTGTATGTATACGTATATATAC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0108 a0001c0108	a0001c0108t0054 a0001c0108t0054	a0001c0108t0054g0074 a0001c0108t0054g0074	1	126	0.0079	236	c.156 others(255): Show c.1562-2079_1562-2078insGTATATATACGTATACATACACGTAT ATATATATACGTATATATATATGCACACGTATATATATACGTATATATAC ACACGTATATATATACGTATATATACACACGTATATATATACGTATATAT ACACACGTATATATATACGTATATATACACACGTATATATACGTATATAT ACACACGTATATACACGTGTATATATACACGTGTATATATGTATATATAT GTGTATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSTPP1_chr11_46931761_47167247	47036037	A A	AAAAGTGG others(229): Show AAAAGTGGGATAGATATAAAGGTCACTTATCTAAGAATTTTTTTTGTCCA TGTTTTACTTTTGGAACTATGTTAATATTTCATTTACATGAGTAAGTATA TATATATTATATATGTTATTTTATATATATATTATATATATGATATATGA TATATTATAATATATTATATATGATATTATATTATATTATATATTATATC ATATATATTATATTATATATAATATTATATATTATAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03516.hp1 HG02895.hp2 HG03516.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0005c0006t0001 a0001c0001t0001 a0005c0006t0001	a0001c0001t0001g0193 a0005c0006t0001g0200 a0001c0001t0001g0193 a0005c0006t0001g0200	2	224	0.0089	236	c.150 others(255): Show c.150-16351_150-16350insAAAGTGGGATAGATATAAAGGTCACT TATCTAAGAATTTTTTTTGTCCATGTTTTACTTTTGGAACTATGTTAATA TTTCATTTACATGAGTAAGTATATATATATTATATATGTTATTTTATATA TATATTATATATATGATATATGATATATTATAATATATTATATATGATAT TATATTATATTATATATTATATCATATATATTATATTATATATAATATTA TATATTATAT	CSTPP1	ENSG00000149179.14	transcript	ENST00000278460.12	protein_coding	2/8			chr11	TogoVar
CTNND2_chr5_10966836_11909446	11120664	T T	TATACTGT others(229): Show TATACTGTCTGCAGGCATGGTGAGGCTCAGTATACATAAGGACTTCAAGA GGGGGTTATCATACTGTCTGCAGGGGTGATGAGGCTCAGTATACATATAG ACTTCAAGAGGGGGTTATCATACTGTCTGCAGGCGTGATGAGGCTCAGTA TACATATAGACTTCAAGAGGGCATTATCATACTGTCTGCAGGCATGATGA GGCTCAGTATACATATAGACTTCAAGAGGGCATTATC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0002 a0001c0007t0001g0002	1	26	0.0385	236	c.216 others(255): Show c.2160-3098_2160-3097insGATAATGCCCTCTTGAAGTCTATATG TATACTGAGCCTCATCATGCCTGCAGACAGTATGATAATGCCCTCTTGAA GTCTATATGTATACTGAGCCTCATCACGCCTGCAGACAGTATGATAACCC CCTCTTGAAGTCTATATGTATACTGAGCCTCATCACCCCTGCAGACAGTA TGATAACCCCCTCTTGAAGTCCTTATGTATACTGAGCCTCACCATGCCTG CAGACAGTAT	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	12/21			chr5	TogoVar
CTSS_chr1_150725188_150770778	150744134	A A	ATATATTA others(229): Show ATATATTATATATTATATGTATATTATGTATACATAATATATTATATATT ATATGTATATTATGTATACATAATATATTATATATTATATGTATATTATG TATACATAATATTTATATATTATATGTATATTATGTATACATAATATATT ATATATTATATGTATATTATGTATACATAATATTTATATATTATATGTAT ATTATGTATACATAATATTTATATATTATATGTATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01243.hp1 HG00140.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0241 a0001c0001t0003g0250 a0001c0001t0003g0241 a0001c0001t0003g0250	2	344	0.0058	236	c.896 others(253): Show c.896+3642_896+3643insATATACATATAATATATAAATATTATGT ATACATAATATACATATAATATATAAATATTATGTATACATAATATACAT ATAATATATAATATATTATGTATACATAATATACATATAATATATAAATA TTATGTATACATAATATACATATAATATATAATATATTATGTATACATAA TATACATATAATATATAATATATTATGTATACATAATATACATATAATAT ATAATATA	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
CUX2_chr12_111029165_111355554	111332298	A A	AATTTTTG others(229): Show AATTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0065 a0001c0017t0001g0065	1	100	0.0100	236	c.292 others(255): Show c.2927-2128_2927-2127insTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGATTTT TGTATTTTTT	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CXorf51B_chrX_146804771_146815411	146812146	C C	CATGTGTA others(229): Show CATGTGTATATATGTATATATATACACATATATACACACATATATGTGTA TATACGTATATACACATATATGTATATACACACACATATACACACATATA TATGTGTATATATGTATATACACATATATGTATATACACACATATACACA CATATATGTACATATATGTGTATATACGTATATACACATATATGTATATA CACACACATATACACACATATATGTACACATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	272	0.0037	236	c.18 others(247): Show c.1838_*1839insATGTGTATATATGTATATATATACACATATATAC ACACATATATGTGTATATACGTATATACACATATATGTATATACACACAC ATATACACACATATATATGTGTATATATGTATATACACATATATGTATAT ACACACATATACACACATATATGTACATATATGTGTATATACGTATATAC ACATATATGTATATACACACACATATACACACATATATGTACACATATAT AT	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1736		chrX	TogoVar
CYP20A1_chr2_203234018_203311026	203251815	A A	ATATATAT others(229): Show ATATATATGTGTGTATATATATATATATATATATATATGTGTATATATAT ATATATATATATATATGTGTATATATATATATATATATATATGTGTATAT ATATATATATATATATGTGTGTATATATATATATATATATATGTGTATAT ATATATATATATATATATATATATATATGTATATATATATATATATATAT ATATATGTGTATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0018	a0002c0002t0018g0286 a0002c0002t0018g0286	1	334	0.0030	236	c.290 others(251): Show c.290-150_290-149insTATATGTGTGTATATATATATATATATATA TATATGTGTATATATATATATATATATATATATGTGTATATATATATATA TATATATATGTGTATATATATATATATATATATGTGTGTATATATATATA TATATATATGTGTATATATATATATATATATATATATATATATATGTATA TATATATATATATATATATATATGTGTATATATATATATATATATATATA TATGTA	CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DAP_chr5_10674230_10766234	10681696	G G	GTGAGGAA others(229): Show GTGAGGAAGCTCCAGGCCAGAGCCCACCAGCGTCCCTACAGGAAGCATGG CAGTTGTATGTGAGGAAGCCCCAGGACAGCGCCCAACAGAGTCCCTGCAG GAAGGATGGCGGTTGTATAAGAGGAAGCTCCAGGCCAGCACCCACCAGCG TTCCTACAGGAAGCATGGTGTTTGTGGGTGAGGAAGCCCCAGACCAGCGC CCACCAGCATCCCTGCAGGAAGCATGGCGGTTGTATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00438.hp1 others(62): Show HG00280.hp2 HG00423.hp1 HG00438.hp1 HG00597.hp2 HG00735.hp2 HG01069.hp1 HG01071.hp2 HG01167.hp1 HG01169.hp1 HG01255.hp1 HG01256.hp1 HG01978.hp1 HG02004.hp1 HG02083.hp2 HG02148.hp2 HG02572.hp2 HG02922.hp2 HG03209.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04228.hp2 NA18941.hp1 NA18942.hp1 NA18944.hp2 NA18953.hp2 NA18962.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp2 NA18970.hp1 NA18973.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp2 NA18988.hp2 NA18992.hp2 NA18994.hp1 NA18997.hp2 NA19000.hp2 NA19004.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19054.hp1 NA19058.hp2 NA19063.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19088.hp2 NA19090.hp2 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0016 a0001c0001t0027	a0001c0001t0003g0001 a0001c0001t0003g0019 a0001c0001t0003g0021 others(52): Show a0001c0001t0003g0001 a0001c0001t0003g0019 a0001c0001t0003g0021 a0001c0001t0003g0299 a0001c0001t0003g0301 a0001c0001t0003g0302 a0001c0001t0003g0303 a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0003g0317 a0001c0001t0003g0319 a0001c0001t0003g0320 a0001c0001t0003g0321 a0001c0001t0003g0322 a0001c0001t0003g0324 a0001c0001t0003g0325 a0001c0001t0003g0326 a0001c0001t0003g0327 a0001c0001t0004g0004 a0001c0001t0004g0013 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0139 a0001c0001t0004g0165 a0001c0001t0004g0171 a0001c0001t0004g0173 a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0004g0178 a0001c0001t0004g0179 a0001c0001t0004g0180 a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0001t0004g0267 a0001c0001t0004g0268 a0001c0001t0009g0308 a0001c0001t0009g0309 a0001c0001t0009g0318 a0001c0001t0009g0328 a0001c0001t0016g0095 a0001c0001t0016g0096 a0001c0001t0027g0269	65	372	0.1747	236	c.196 others(251): Show c.196-763_196-528dupTATACAACCGCCATGCTTCCTGCAGGGATG CTGGTGGGCGCTGGTCTGGGGCTTCCTCACCCACAAACACCATGCTTCCT GTAGGAACGCTGGTGGGTGCTGGCCTGGAGCTTCCTCTTATACAACCGCC ATCCTTCCTGCAGGGACTCTGTTGGGCGCTGTCCTGGGGCTTCCTCACAT ACAACTGCCATGCTTCCTGTAGGGACGCTGGTGGGCTCTGGCCTGGAGCT TCCTCA	DAP	ENSG00000112977.16	transcript	ENST00000230895.11	protein_coding	3/3			chr5	TogoVar
DAP_chr5_10674230_10766234	10681853	A A	AGGAAGCA others(229): Show AGGAAGCATGGTGTTTGTGGGTGAGGAAGCCCCAGACCAGCGCCCACCAG CATCCCTGCAGGAAGCATGGCGGTTGTATATGAGGAAGCTCCAGGCCAGA GCCCACCAGCGTCCCTACAGGAAGCATGGCAGTTGTATGTGAGGAAGCCC CAGGACAGCGCCCAACAGAGTCCCTGCAGGAAGGATGGCGGTTGTATAAG AGGAAGCTCCAGGCCAGCACCCACCAGCGTTCCTACG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0286 a0001c0001t0002g0286	1	372	0.0027	236	c.196 others(251): Show c.196-685_196-684insCGTAGGAACGCTGGTGGGTGCTGGCCTGGA GCTTCCTCTTATACAACCGCCATCCTTCCTGCAGGGACTCTGTTGGGCGC TGTCCTGGGGCTTCCTCACATACAACTGCCATGCTTCCTGTAGGGACGCT GGTGGGCTCTGGCCTGGAGCTTCCTCATATACAACCGCCATGCTTCCTGC AGGGATGCTGGTGGGCGCTGGTCTGGGGCTTCCTCACCCACAAACACCAT GCTTCC	DAP	ENSG00000112977.16	transcript	ENST00000230895.11	protein_coding	3/3			chr5	TogoVar
DEPDC1B_chr5_60591912_60705166	60668137	T T	TTATATAT others(229): Show TTATATATATATATAAAATGGATATTTTATATATATATATAAAATGGATA TTTTATATATATATATAAAATGGATATTTTATATATATATATAAAATGGA TATTTTATATATATATATAAAATGGATATTTTATATATATATATAAAATG GATATTTTATATATATATATAAAATGGATATTTTATATATATATATAAAA TGGATATTTTATATATATATATAAAATGGATATTTTA	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	292	0.0034	236	c.314 others(255): Show c.314+18824_314+18825insTAAAATATCCATTTTATATATATATA TAAAATATCCATTTTATATATATATATAAAATATCCATTTTATATATATA TATAAAATATCCATTTTATATATATATATAAAATATCCATTTTATATATA TATATAAAATATCCATTTTATATATATATATAAAATATCCATTTTATATA TATATATAAAATATCCATTTTATATATATATATAAAATATCCATTTTATA TATATATATA	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DGKD_chr2_233349494_233477098	233397203	T T	TGCGGGGG others(229): Show TGCGGGGGGGGCCAGAGCGAGAGGACACCAGAGGGGACCAGGGTGGCTGC GGGGGGGGCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGCGGG GGGGGCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGCGGGGGG GGCCAGAGCGAGAGGACACCAGAGGGGACCAGGGTGGCTGCGGGGGGGGC CAGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0055 a0001c0001t0018g0055	1	336	0.0030	236	c.348 others(253): Show c.348+6721_348+6722insCGGGGGGGGCCAGAGCGAGAGGACACCA GAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCCAGAG GGGACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCCAGAGGGG ACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACACCAGAGGGGACC AGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCCAGAGGGGACCAGG GTGGCTGG	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKI_chr7_137376037_137851974	137638574	A A	ATATGTAT others(229): Show ATATGTATATATATGTGTGTATATATATACACACATATATATGTATATAT ATGTGTGTATATATATACACACATATATGTATATATACACATATATACAT ATATGTATATATACACATATATACATATATGTATATATACACATATATAC ATATATGTATATATGTGTATATATACACATATATACATATATGTATATAT GTGTATATATACACATATATACATATATGTATATATG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0035 a0001c0003t0035	a0001c0003t0035g0028 a0001c0003t0035g0028	1	94	0.0106	236	c.804 others(253): Show c.804+6897_804+6898insCATATATACATATATGTATATATGTGTA TATATACACATATATACATATATGTATATATGTGTATATATACACATATA TACATATATGTATATATGTGTATATATACATATATGTATATATGTGTATA TATACATATATGTATATATGTGTATATATACATATATGTGTGTATATATA TACACACATATATATACATATATATGTGTGTATATATATACACACATATA TATACATA	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	6/32			chr7	TogoVar

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