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
IFNAR1_chr21_33319970_33364864	33323235	T T	TGTATATA others(405): Show TGTATATATATGGAATATATAGATGGAATGTATATATATGGAATATATAG ATGGAATGTATATATATGGAATGTATAGATGGAATGTATATATATGGAAT GTATAGATGGAATGTATATATATGGAATGTATAGATGGAATGTATATATA TGGAATGTATAGATGGAATGTATATATATGGAATGTATAGATGGAATGTA TATATATGGAATGTATAGATGGAATGTATATATATGGAATGTATAGATGG AATGTATATATGGAATGTATAGATGGAATGTATATATGGAATGTATAGAT GGAATGTATATATGGAATGTATATATGGAATGTATATATGGAATGTATAT ATGGAATGTATATATGGAATATATATATATATGGAATATATATATGGAAT ATATATATATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0017 a0001c0001t0015g0017	1	323	0.0031	412	c.-18 others(423): Show c.-1821_-1820insGTATATATATGGAATATATAGATGGAATGTATAT ATATGGAATATATAGATGGAATGTATATATATGGAATGTATAGATGGAAT GTATATATATGGAATGTATAGATGGAATGTATATATATGGAATGTATAGA TGGAATGTATATATATGGAATGTATAGATGGAATGTATATATATGGAATG TATAGATGGAATGTATATATATGGAATGTATAGATGGAATGTATATATAT GGAATGTATAGATGGAATGTATATATGGAATGTATAGATGGAATGTATAT ATGGAATGTATAGATGGAATGTATATATGGAATGTATATATGGAATGTAT ATATGGAATGTATATATGGAATGTATATATGGAATATATATATATATGGA ATATATATATGGAATATATATATATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1734		chr21	TogoVar
KAZN_chr1_14593685_15123043	14652486	T T	TCTGCCTA others(405): Show TCTGCCTATCCATCCACCCACCCACCCGCCCATCCACCTATCCACCTATC TACCTATCCGCCTATCCATCCACCCACCCACCCATCCATCTGCCTATACA TCCACCCACCCACCCACCCACCTGTCCATCCACCCACCCACCCACCCATC CACCTCTCCATCCACCCACCCACCCACCCATCCACCTGTCCATCCACCCA CCCACCCACCCATCCACCTGTCCATCCATCCACCCACCCATCCACCTATC CACCCACCCACCCACCCATCCACCTCTCCATCCACCCACCCACCCACCCA TCCACCTGTCCATCCACCCACCCACCCACCCATCCACCTGTCCATCCATC CACCCACCCAACCATCCACCTATCCATCCACTCACCCACCCATCCACCTG TCCATCCACCCAC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02976.hp2 HG00642.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0144 a0001c0001t0003g0005 a0001c0001t0002g0144 a0001c0001t0003g0005	2	146	0.0137	412	c.226 others(431): Show c.226+53264_226+53265insTGCCTATCCATCCACCCACCCACCCG CCCATCCACCTATCCACCTATCTACCTATCCGCCTATCCATCCACCCACC CACCCATCCATCTGCCTATACATCCACCCACCCACCCACCCACCTGTCCA TCCACCCACCCACCCACCCATCCACCTCTCCATCCACCCACCCACCCACC CATCCACCTGTCCATCCACCCACCCACCCACCCATCCACCTGTCCATCCA TCCACCCACCCATCCACCTATCCACCCACCCACCCACCCATCCACCTCTC CATCCACCCACCCACCCACCCATCCACCTGTCCATCCACCCACCCACCCA CCCATCCACCTGTCCATCCATCCACCCACCCAACCATCCACCTATCCATC CACTCACCCACCCATCCACCTGTCCATCCACCCACC	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNMB2_chr3_178531436_178849429	178758039	T T	TACACAAG others(405): Show TACACAAGAGGATATATATATATACACACAAGAGGATATATATATATATA TATCCAAGAGGATATATATATATATATCCAAGAGGATATATATATATATA TATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATA TATATATATATATATCCAAGAGGATATATATATATATATATATATCCAAG AGGATATATATATATATATATATATCCAAGAGGATATATATATATATATA TATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATA TATATATATATATATCCAAGAGGATATATATATATATATATATATCCAAG AGGATATATATATATATATATATATCCAAGAGGATATATATATATATATA TATATCCAAGAGG	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0056 a0001c0002t0001g0056	1	232	0.0043	412	c.-67 others(431): Show c.-67-49303_-67-49302insCACAAGAGGATATATATATATACACA CAAGAGGATATATATATATATATATCCAAGAGGATATATATATATATATC CAAGAGGATATATATATATATATATATCCAAGAGGATATATATATATATA TATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATA TATATATATATATATATCCAAGAGGATATATATATATATATATATATCCA AGAGGATATATATATATATATATATATCCAAGAGGATATATATATATATA TATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATA TATATATATATATATATCCAAGAGGATATATATATATATATATATATCCA AGAGGATATATATATATATATATATATCCAAGAGGA	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758039	T T	TACACAAG others(405): Show TACACAAGAGGATATATATATATACACACAAGAGGATATATATATGTACA CACAAGAGGATATATATATATATATATCCAAGAGGATATATATATATATA TATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATA TATATATATATATATCCAAGAGGATATATATATATATATATATATCCAAG AGGATATATATATATATATATATATCCAAGAGGATATATATATATATATA TATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATA TATATATATATATATCCAAGAGGATATATATATATATATATATATCCAAG AGGATATATATATATATATATATATCCAAGAGGATATATATATATATATA TATATCCAAGAGG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	232	0.0043	412	c.-67 others(431): Show c.-67-49303_-67-49302insCACAAGAGGATATATATATATACACA CAAGAGGATATATATATGTACACACAAGAGGATATATATATATATATATC CAAGAGGATATATATATATATATATATCCAAGAGGATATATATATATATA TATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATA TATATATATATATATATCCAAGAGGATATATATATATATATATATATCCA AGAGGATATATATATATATATATATATCCAAGAGGATATATATATATATA TATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATA TATATATATATATATATCCAAGAGGATATATATATATATATATATATCCA AGAGGATATATATATATATATATATATCCAAGAGGA	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758709	G G	GATATATA others(405): Show GATATATATATATATATATCTCCAAGAGGAGATATATATATATATATATA TCTCCAAGAGGAGATATATATATATATATATATCTCCAAGAGGAGATATA TATATATATATATATCTCCAAAAGGAGATATATATATATATATATATCTC CAAGAGGAGATATATATATATATATATATATATCTCCAAGAGGAGATATA TATATATATATATATATATCTCCTCTTGGAGATATATATATATATATATA TATATCTCCAAGAGGAGATATATATATATATATCTCCAAGAGGAGATATA TATATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATA TATATATATATATATATCTCCAAGAGGAGATATATATATATATATATATC TCCAAGAGGAGAT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0114 a0001c0002t0001g0114	1	232	0.0043	412	c.-67 others(431): Show c.-67-48586_-67-48585insATCTCCAAGAGGAGATATATATATAT ATATATATCTCCAAGAGGAGATATATATATATATATATATCTCCAAAAGG AGATATATATATATATATATATCTCCAAGAGGAGATATATATATATATAT ATATATATCTCCAAGAGGAGATATATATATATATATATATATATCTCCTC TTGGAGATATATATATATATATATATATATCTCCAAGAGGAGATATATAT ATATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATAT ATATATATATCTCCAAGAGGAGATATATATATATATATATATCTCCAAGA GGAGATATATATATATATATATATCTCCAAGAGGAGATATATATATATAT ATATATCTCCAAGAGGAGATATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNT2_chr1_196220779_196613440	196437080	T T	TATAAATA others(405): Show TATAAATATATATTTATATACATAAATATATTTATATATAAATATATATT TTTATATATATTTATGTATATATTTATATATAAATATATATTTATATATT TATATATATTTATATATATATACATAAATATATATTTATATATATTTATA TATATACATAAATATATATTTATATATAAATATATATTTATATATTTATA TATATTTATGTATATTTATATACATAAATATATATTTATATATATTTATA TATATTTATATACATAAATATATATTTATATATATTTATATACATAAATA TATATTTATATATATTTATATACATAAATATATATTTATATATATTTATA TACATAAATATATATTTATATATATTTATATACATAAATATATATTTATA TATATTTATATAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG04115.hp1 HG02258.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0113 a0001c0001t0002g0115	2	136	0.0147	412	c.639 others(429): Show c.639-7324_639-7323insGTATATAAATATATATAAATATATATTT ATGTATATAAATATATATAAATATATATTTATGTATATAAATATATATAA ATATATATTTATGTATATAAATATATATAAATATATATTTATGTATATAA ATATATATAAATATATATTTATGTATATAAATATATATAAATATATATAA ATATATATTTATGTATATAAATATACATAAATATATATAAATATATAAAT ATATATTTATATATAAATATATATTTATGTATATATATAAATATATATAA ATATATATTTATGTATATATATATAAATATATATAAATATATAAATATAT ATTTATATATAAATATATACATAAATATATATAAAAATATATATTTATAT ATAAATATATTTATGTATATAAATATATATTTAT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	8/27			chr1	TogoVar
KIF3B_chr20_32272651_32340011	32322802	T T	TTATATAT others(405): Show TTATATATATTTATATATATATTTATATATATTTATATATATATTTATAT ATATTTATATATATATTTATATATATTTATATATATATTTATATATATAT TTATATATATTTATATATATATTTATATATATTTATATATATATTTATAT ATATTTATATATATATTTATATATATTTATATATATATTTATATATATTT ATATATATATTTATATATATTTATATATATATTTATATATATTTATATAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT TTATATATATTTATATTTATTTATTTATATATATTTATTTATATATATAT TTATATATATTTA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0011 a0001c0001t0024g0011	1	242	0.0041	412	c.174 others(431): Show c.1749-3950_1749-3949insATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATATTTAT ATATATATTTATATATATTTATATATATATTTATATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATATTTATATATATATTTAT ATATTTATATATATTTATATTTATTTATTTATATATATTTATTTATATAT ATATTTATATATATTTATATATATATTTATATATAT	KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
KLHL23_chr2_169728832_169756878	169750102	A A	ATATACGT others(405): Show ATATACGTATGTATGTATACATATATGTGTATATATACGTATGTATGTAT ACATATATGTGTATATATACGTGTGTATGTATACATATATGTGTATATAT ACGTGTGTATGTATACATATATGTGTATATATACGTGTGTATGTATACAT ATATGTGTATATATACGTGTGTATGTATACATATATGTGTATATATACGT GTGTATGTATACATATATGTGTATATATACGTGTGTATGTATACATATAT GTGTATATATACGTGTGTATGTATACATATATGTGTATATATACGTGTGT ATGTATACATATATGTGTATATATACGTGTGTATGTATACATATATGTGT ATATATACGTGTGTATGTATACATATATGTGTATATATACGTGTGTATGT ATACATATATGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0228 a0001c0001t0075g0228	1	400	0.0025	412	c.37 others(421): Show c.370_*371insTATACGTATGTATGTATACATATATGTGTATATATA CGTATGTATGTATACATATATGTGTATATATACGTGTGTATGTATACATA TATGTGTATATATACGTGTGTATGTATACATATATGTGTATATATACGTG TGTATGTATACATATATGTGTATATATACGTGTGTATGTATACATATATG TGTATATATACGTGTGTATGTATACATATATGTGTATATATACGTGTGTA TGTATACATATATGTGTATATATACGTGTGTATGTATACATATATGTGTA TATATACGTGTGTATGTATACATATATGTGTATATATACGTGTGTATGTA TACATATATGTGTATATATACGTGTGTATGTATACATATATGTGTATATA TACGTGTGTATGTATACATATATGTG	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	4/4	371		chr2	TogoVar
LAMC1_chr1_183018420_183150592	183149453	T T	TCCTCACA others(405): Show TCCTCACACCACAGAGCCCACACCCCTCTCCTCACACACCACACAGCTCA CATCCCTCTCCTCACACACCACACAGCCCACACCCCTGTCCTCCTCACAC ACCACACAGCCCACACCCCTCCTCACACACCACACAGCTCACACCCCTCT CCTGCTCACACACCACACAGCCCACACCCCTCTCCTCCTCACACACCACA CAGCTCACACCCCTCTCCTCACACACCACACAGCCCACACCCCTCTCCTC ACACACCAGACAGCTCACACCCCTCTCCTCCTCACACACCACACAGCTCA CACCCCTCTCCTCCTCACACACCACACAGCTCACACCCCTCTCCTGCTCA CACACCACACAGCTCACACCCCTCTCCTCACACACCACACAGCTCACACC CCTCTCCTGCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0027 a0001c0002t0002g0027	1	308	0.0033	412	c.66 others(423): Show c.6663_*6664insCCTCACACCACAGAGCCCACACCCCTCTCCTCAC ACACCACACAGCTCACATCCCTCTCCTCACACACCACACAGCCCACACCC CTGTCCTCCTCACACACCACACAGCCCACACCCCTCCTCACACACCACAC AGCTCACACCCCTCTCCTGCTCACACACCACACAGCCCACACCCCTCTCC TCCTCACACACCACACAGCTCACACCCCTCTCCTCACACACCACACAGCC CACACCCCTCTCCTCACACACCAGACAGCTCACACCCCTCTCCTCCTCAC ACACCACACAGCTCACACCCCTCTCCTCCTCACACACCACACAGCTCACA CCCCTCTCCTGCTCACACACCACACAGCTCACACCCCTCTCCTCACACAC CACACAGCTCACACCCCTCTCCTGCTCA	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		3862		chr1	TogoVar
LARS1_chr5_146108034_146187650	146174505	T T	TATATATA others(405): Show TATATATATCCATATATATATATCCATATATATATCCATATATATATATC CATATATATATCCATATATATATCCATATATATATATCCATATATATATC CATATATATATATCCATATATATATCCATATATATATATCCATATATATG GATATATATATATCCATATATATCTATCCATATATATATCCATATATATC TATCCATATATATATCCATATATATCTATCCATATATATATATATCCATA TATATATCCATATATATATATCCATATATATATATATATCCATATATATA TATATCCATATATATATATCCATATATATATATATCCATATATATATATA TCCATATATATATATATCCATATATATATATATCCATATATATATATCCA TATATATATATCC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0204 a0002c0002t0002g0204	1	284	0.0035	412	c.126 others(429): Show c.126-1732_126-1731insGGATATATATATATGGATATATATATAT GGATATATATATATATGGATATATATATATATGGATATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATATATATGGATATATATATATGGATATATATATGGATATATATAT ATATGGATAGATATATATGGATATATATATGGATAGATATATATGGATAT ATATATGGATAGATATATATGGATATATATATATCCATATATATGGATAT ATATATATGGATATATATATGGATATATATATATGGATATATATATGGAT ATATATATATGGATATATATATGGATATATATATGGATATATATATATGG ATATATATATGGATATATATATATGGATATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LMF1_chr16_848634_975984	960364	C C	CACAGACT others(405): Show CACAGACTCACGGTGACAACACTGGATCACGACCCAGACACAGACTCACG GTGACAACACTGGATCACAACCCAGACACCATCTCATGGTGACAACACGG GATCACGACCCAGACACAGACTCACGGTGACAGCACGGGATCACGACCCA GACACAGACTCACGGTGACAGCACGGGATCACGACCCAGACAGACTCACG GTGACAGCACGGGATCACGACCCAGACACAGACTCACGGTGACAGCACGG GATCACGACCCAGACACAGACTCACGGTGACAGCACGGGATCACGACCCA GACAGACTCACGGTGACAGCACGGGATCACGACCCAGACACAGACTCACG GTGACAGCACGGGATCACGACCCAGACACAGACTCACGGTGACAGCACAG GATCACGACCCAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01081.hp1 HG01928.hp1 others(2): Show HG00140.hp1 HG01081.hp1 HG01928.hp1 HG01934.hp2 HG01952.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0109 a0001c0005t0001g0111 a0001c0005t0001g0112 others(2): Show a0001c0005t0001g0109 a0001c0005t0001g0111 a0001c0005t0001g0112 a0001c0005t0001g0113 a0001c0005t0001g0116	5	294	0.0170	412	c.194 others(429): Show c.194-5699_194-5698insCTGGGTCGTGATCCTGTGCTGTCACCGT GAGTCTGTGTCTGGGTCGTGATCCCGTGCTGTCACCGTGAGTCTGTGTCT GGGTCGTGATCCCGTGCTGTCACCGTGAGTCTGTCTGGGTCGTGATCCCG TGCTGTCACCGTGAGTCTGTGTCTGGGTCGTGATCCCGTGCTGTCACCGT GAGTCTGTGTCTGGGTCGTGATCCCGTGCTGTCACCGTGAGTCTGTCTGG GTCGTGATCCCGTGCTGTCACCGTGAGTCTGTGTCTGGGTCGTGATCCCG TGCTGTCACCGTGAGTCTGTGTCTGGGTCGTGATCCCGTGTTGTCACCAT GAGATGGTGTCTGGGTTGTGATCCAGTGTTGTCACCGTGAGTCTGTGTCT GGGTCGTGATCCAGTGTTGTCACCGTGAGTCTGT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
LRP8_chr1_53237364_53333070	53283446	C C	CACTTACT others(405): Show CACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGCCA CTTACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGC CACTTACTTACTACATACCCGGGCCACTTACTTACCTACTACATACCCGG GCCACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACCC GGGCCACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGG GCCACTTACTCACTTACTACATACCCGGGCCACTTACTTACTTACTACAT ACCCGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACTTACTAC ATACCCGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACTACAT ACCCGGGCCACTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp2 HG01884.hp1 others(4): Show HG00639.hp1 HG00642.hp2 HG01884.hp1 HG02451.hp1 HG02622.hp1 HG02965.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0027 a0001c0001 a0001c0027	a0001c0001t0005 a0001c0001t0033 a0001c0001t0041 others(2): Show a0001c0001t0005 a0001c0001t0033 a0001c0001t0041 a0001c0001t0042 a0001c0027t0023	a0001c0001t0005g0008 a0001c0001t0005g0245 a0001c0001t0033g0015 others(3): Show a0001c0001t0005g0008 a0001c0001t0005g0245 a0001c0001t0033g0015 a0001c0001t0041g0261 a0001c0001t0042g0263 a0001c0027t0023g0262	7	296	0.0237	412	c.368 others(429): Show c.368-2732_368-2731insAAGTGGCCCGGGTATGTAGTAAGTAAGT GGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAA GTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGT AAGTGGCCCGGGTATGTAGTAAGTGAGTAAGTGGCCCGGGTATGTAGTAA GTAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGT AAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAG GTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGT AAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTA GTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGT	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRRC27_chr10_132327193_132386508	132364445	A A	ACACCCAC others(405): Show ACACCCACAATTACACCCACACTTACATCTACCTCCACGCCCACACTCAC ACCCACCCACACTCACACCCACCCACACTCACACCCACCCACACTTACAC CCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCAC ACCCACCCACACTCACACCCACCCACACTCACACCCACCCACACTTACAC CCACGCTTACATCTACCTCCACACCCACACTTACACCCACACTTACATCT ACCTCCACGCCCACACTCACACCCACCCACACTTACACCCACGCTTACAT CTACCTCCACACCCACACTCACACCCACACTTACATCTACCTCCACGCCC ACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACAC CCACACTCACACC	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA19030.hp1 HG02451.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0087 a0001c0003t0006g0091 a0001c0003t0006g0087 a0001c0003t0006g0091	2	290	0.0069	412	c.129 others(429): Show c.1290-971_1290-970insATTACACCCACACTTACATCTACCTCCA CGCCCACACTCACACCCACCCACACTCACACCCACCCACACTCACACCCA CCCACACTTACACCCACCCACACTTACACCCACCCTTACATCTACCTCCA CACCCACACTCACACCCACCCACACTCACACCCACCCACACTCACACCCA CCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTTACACC CACACTTACATCTACCTCCACGCCCACACTCACACCCACCCACACTTACA CCCACGCTTACATCTACCTCCACACCCACACTCACACCCACACTTACATC TACCTCCACGCCCACACTCACACCCACCCACACTTACACCCACCCTTACA TCTACCTCCACACCCACACTCACACCCACCCACA	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LYPD8_chr1_248734415_248760759	248746753	G G	GCACCCAC others(405): Show GCACCCACGCAGGGCATCGCCCGCACGGCCAGCACCCACCCAGGGCATCC CCCGCCCGGCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCAGCAC CCACCCAGGGCATCGCCCGCACGGCCAGCAGCACCCACCCAGGGCATCGC CCGCACGGCCAGCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCACC CACCCAGGGCATCGCCCGCACGGCCAGCAGCACCCACCCAGGGCATCGCC CGCACGGCCAGCACCCACCCAGGGCATCCCCCGCACGGCCAGCACCCACC CAGGGCATCCCCCGCACGGCCAGCACCCACCCAGGGCATCGCCCGCACGG CCAGCACCCACCCAGGGCATCCCCCGCACGGCCAGCACCCACCCAGGGCA TCGCCCGCACGGC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0096 a0004c0004t0003g0096	1	374	0.0027	412	c.338 others(429): Show c.338-1475_338-1474insGCCGTGCGGGCGATGCCCTGGGTGGGTG CTGGCCGTGCGGGGGATGCCCTGGGTGGGTGCTGGCCGTGCGGGCGATGC CCTGGGTGGGTGCTGGCCGTGCGGGGGATGCCCTGGGTGGGTGCTGGCCG TGCGGGGGATGCCCTGGGTGGGTGCTGGCCGTGCGGGCGATGCCCTGGGT GGGTGCTGCTGGCCGTGCGGGCGATGCCCTGGGTGGGTGCTGGCCGTGCG GGCGATGCCCTGGGTGGGTGCTGCTGGCCGTGCGGGCGATGCCCTGGGTG GGTGCTGCTGGCCGTGCGGGCGATGCCCTGGGTGGGTGCTGCTGGCCGTG CGGGCGATGCCCTGGGTGGGTGCTGGCCGGGCGGGGGATGCCCTGGGTGG GTGCTGGCCGTGCGGGCGATGCCCTGCGTGGGTG	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	5/6			chr1	TogoVar
MAGEF1_chr3_184705364_184717064	184712991	G G	GCCTTCCT others(405): Show GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCT TCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTC CTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTT TCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	456	0.0022	412	c.-11 others(423): Show c.-1171_-1170insAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAAGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGG	MAGEF1	ENSG00000177383.5	transcript	ENST00000317897.5	protein_coding		928		chr3	TogoVar
MBNL3_chrX_132364320_132494038	132396681	T T	TATATATT others(405): Show TATATATTCATATATATATTCATATATATATATTCATATATAGATTCATA TATATATTCATATATAGATTCATATATATTCATATATAGATTCATATATA TTCATATATAGATTCATATATATATTCATATATAGATTCATATATATATT CATATATATTCATATATATATTCATATATATATTCATATATATATTCATA TATATTCATATATATTCATATATATATTCATATATATATTCATATATATA TTCATATATATATTCATATATATATTCATATATATTCATATATATATTCA TATATATATTCATATATATATTCATATATATTCATATATATATTCATATA TATATTCATATATATATTCATATATATTCATATATATTCATATATATATT CATATATATATTC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0163 a0001c0001t0040g0163	1	191	0.0052	412	c.343 others(429): Show c.343-4348_343-4347insGAATATATATATGAATATATATATGAAT ATATATGAATATATATGAATATATATATGAATATATATATGAATATATAT ATGAATATATATGAATATATATATGAATATATATATGAATATATATATGA ATATATATGAATATATATATGAATATATATATGAATATATATATGAATAT ATATATGAATATATATATGAATATATATGAATATATATGAATATATATAT GAATATATATATGAATATATATATGAATATATATGAATATATATATGAAT CTATATATGAATATATATATGAATCTATATATGAATATATATGAATCTAT ATATGAATATATATGAATCTATATATGAATATATATATGAATCTATATAT GAATATATATATATGAATATATATATGAATATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396681	T T	TATATATT others(405): Show TATATATTCATATATATATTCATATATATATATTCATATATAGATTCATA TATATATTCATATATAGATTCATATATATTCATATATAGATTCATATATA TTCATATATAGATTCATATATATATTCATATATAGATTCATATATATTCA TATATATATTCATATATATATTCATATATATATTCATATATATTCATATA TATTCATATATATATTCATATATATATTCATATATATATTCATATATATA TTCATATATATATTCATATATATTCATATATATATTCATATATATATTCA TATATATATTCATATATATTCATATATATATTCATATATATATTCATATA TATATTCATATATATTCATATATATATTCATATATATATTCATATATATA TTCATATATATTC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0157 a0001c0001t0002g0157	1	191	0.0052	412	c.343 others(429): Show c.343-4348_343-4347insGAATATATATGAATATATATATGAATAT ATATATGAATATATATATGAATATATATGAATATATATATGAATATATAT ATGAATATATATATGAATATATATGAATATATATATGAATATATATATGA ATATATATATGAATATATATGAATATATATATGAATATATATATGAATAT ATATATGAATATATATATGAATATATATATGAATATATATGAATATATAT GAATATATATATGAATATATATATGAATATATATATGAATATATATGAAT CTATATATGAATATATATATGAATCTATATATGAATATATATGAATCTAT ATATGAATATATATGAATCTATATATGAATATATATATGAATCTATATAT GAATATATATATATGAATATATATATGAATATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396745	T T	TATATTCA others(405): Show TATATTCATATATAGATTCATATATATATTCATATATAGATTCATATATA TTCATATATAGATTCATATATATTCATATATAGATTCATATATATATTCA TATATATTCATATATATTCATATATATATTCATATATATATTCATATATA TATTCATATATATTCATATATATATTCATATATATATTCATATATATTCA TATATATATTCATATATATTCATATATATTCATATATATTCATATATATA TTCATATATATTCATATATATATTCATATATATTCATATATATATTCATA TATATTCATATATATATTCATATATATTCATATATATATTCATATATATA TTCATATATATTCATATATATTCATATATATATTCATATATATATATATT CATATATATATTC	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	191	0.0052	412	c.343 others(429): Show c.343-4412_343-4411insGAATATATATATGAATATATATATATAT GAATATATATATGAATATATATGAATATATATGAATATATATATGAATAT ATATATGAATATATATGAATATATATATGAATATATATGAATATATATAT GAATATATATGAATATATATATGAATATATATGAATATATATATGAATAT ATATGAATATATATGAATATATATGAATATATATATGAATATATATGAAT ATATATATGAATATATATATGAATATATATGAATATATATATGAATATAT ATATGAATATATATATGAATATATATGAATATATATGAATATATATATGA ATCTATATATGAATATATATGAATCTATATATGAATATATATGAATCTAT ATATGAATATATATATGAATCTATATATGAATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MCOLN2_chr1_84920583_85002113	84987489	C C	CATATATA others(405): Show CATATATACATATATGTATATATAGATATATATACATATATACATATGTA TATACCTATATACATATATAGATATATACATATGTATATATGTATATACA TATATGTATCTATAGATATATACATATATGTATCTATAGATATATACATA TATGTATCTATAGATATATACATATATGTATCTATAGATAGATACATATA TGTATCTATAGATATATACATATATGTATCTATAGATAGATACATATATG TATCTATAGATAGATACATATATGTATCTATCGATAGATACATATATGTA TCTATCGATATATACATATATGTATCTATCGATAGATACATATATGTATC TATAGATAGATACATATATGTATCTATCGATAGATACATATATGTATCTA TCGATAGATACAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0046 a0004c0004t0001g0046	1	350	0.0029	412	c.77+ others(427): Show c.77+9306_77+9307insATGTATCTATCGATAGATACATATATGTAT CTATCGATAGATACATATATGTATCTATCTATAGATACATATATGTATCT ATCGATAGATACATATATGTATATATCGATAGATACATATATGTATCTAT CGATAGATACATATATGTATCTATCTATAGATACATATATGTATCTATCT ATAGATACATATATGTATATATCTATAGATACATATATGTATCTATCTAT AGATACATATATGTATATATCTATAGATACATATATGTATATATCTATAG ATACATATATGTATATATCTATAGATACATATATGTATATACATATATAC ATATGTATATATCTATATATGTATATAGGTATATACATATGTATATATGT ATATATATCTATATATACATATATGTATATAT	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding	1/13			chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735537	A A	AAAAAAAA others(405): Show AAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAGAC CCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTACA GTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGACCC TGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAGGT CAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTACTA AAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGAGC TTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGAGC GAGACGCCATCTC	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA18959.hp2 NA19066.hp2 others(1): Show HG03579.hp1 NA18959.hp2 NA19066.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0233 a0001c0001t0001g0019 a0001c0001t0001g0233	4	390	0.0103	412	c.112 others(429): Show c.1122-170_1122-169insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735538	A A	AAAAAAAA others(405): Show AAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAGAC CCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTACA GTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGACCC TGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAGGT CAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTACTA AAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGAGC TTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGAGC GAGACGCCATCTC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01106.hp1 HG01255.hp1 others(1): Show HG01070.hp1 HG01106.hp1 HG01255.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0012 a0001c0001t0004g0012	4	390	0.0103	412	c.112 others(429): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735538	A A	AAAAAAAA others(405): Show AAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAGAC CCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTACA GTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGACCC TGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAGGT CAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTACTA AAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGAGC TTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGAGC GAGACGCCATCTC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0250 a0001c0001t0007g0250	1	390	0.0026	412	c.112 others(429): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
MLC1_chr22_50054391_50090426	50057629	C C	CAGGTCTG others(405): Show CAGGTCTGGGTTGGGGGATCAGGTCTGGATTGTGGGTCAGGTCTGGGTTG GGATCAGGTCTGGGTTGGGGGTCAGGTCTGGGTTGGGGGTCAGGTCTGGG TTGGGGGTCAGGTCTGGGTTGGGGTCAGGTCTGGGTTGGGGGGTCAGGTC TGGGTTGGGGGTCAGGTCTGGGTTGGGGTCAGGTCTGGGTTGGGGGTCAG GTCTGGGTTGGGGTCAGGTCTGGGTTGGGGGGTCAGGTCTGGGTTGGGGG TCAGGTCTGGGTTGGGGGGTCAGGTCTGGGTTGGGGTCAGGTCTGGGTTG GGGTCAGGTCTGGGTTGGGGGGTCAGGTCTGGGTTGGGGTCAGGTCTGGG TTGGGGTCAGGTCTGGGTTGGGGGTCAGGTCTGGGTTGGGGGGTCAGGTC TGGGTTGAGCGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	212	0.0047	412	c.39 others(423): Show c.3953_*3954insTCCGCTCAACCCAGACCTGACCCCCCAACCCAGA CCTGACCCCCAACCCAGACCTGACCCCAACCCAGACCTGACCCCAACCCA GACCTGACCCCCCAACCCAGACCTGACCCCAACCCAGACCTGACCCCAAC CCAGACCTGACCCCCCAACCCAGACCTGACCCCCAACCCAGACCTGACCC CCCAACCCAGACCTGACCCCAACCCAGACCTGACCCCCAACCCAGACCTG ACCCCAACCCAGACCTGACCCCCAACCCAGACCTGACCCCCCAACCCAGA CCTGACCCCAACCCAGACCTGACCCCCAACCCAGACCTGACCCCCAACCC AGACCTGACCCCCAACCCAGACCTGATCCCAACCCAGACCTGACCCACAA TCCAGACCTGATCCCCCAACCCAGACCT	MLC1	ENSG00000100427.16	transcript	ENST00000311597.10	protein_coding		1761		chr22	TogoVar
MRPL24_chr1_156732303_156746088	156735537	A A	AAAAAAAA others(405): Show AAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAGAC CCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTACA GTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGACCC TGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAGGT CAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTACTA AAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGAGC TTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGAGC GAGACGCCATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 NA18959.hp1 NA19066.hp1 others(1): Show HG03579.hp1 NA18959.hp1 NA19066.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0001g0046 a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0001g0046	4	364	0.0110	412	c.18 others(423): Show c.1860_*1861insGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAG TGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCC ACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGTTTTCACC ATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTC GGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGC TGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAAT CCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCA TGCCTGCCTATTTTTTTTTTTTTTTTTT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1765		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735538	A A	AAAAAAAA others(405): Show AAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAGAC CCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTACA GTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGACCC TGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAGGT CAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTACTA AAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGAGC TTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGAGC GAGACGCCATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01106.hp2 HG01255.hp1 others(1): Show HG01070.hp2 HG01106.hp2 HG01255.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	4	364	0.0110	412	c.18 others(423): Show c.1859_*1860insGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAG TGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCC ACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGTTTTCACC ATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTC GGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGC TGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAAT CCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCA TGCCTGCCTATTTTTTTTTTTTTTTTTT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1764		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735538	A A	AAAAAAAA others(405): Show AAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAGAC CCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTACA GTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGACCC TGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAGGT CAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTACTA AAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGAGC TTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGAGC GAGACGCCATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	364	0.0028	412	c.18 others(423): Show c.1859_*1860insGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAG TGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCC ACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC ATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTC GGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGC TGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAAT CCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCA TGCCTGCCTATTTTTTTTTTTTTTTTTT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1764		chr1	TogoVar
MRPL42_chr12_93462514_93521214	93514298	T T	TCTTTTTT others(405): Show TCTTTTTTTTTTTTTGAGATGGCGTCTCCTCTGTCAATCTCGGTTCATTG CAACCTCCACCTCCCAAGCTCAAGCGATTCTTGTGCCTCAGCCTCCTGAG TAGCTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTTTTTTT GGTAGAGACAGGGTTTCACCATGTTGACCAGGCTGGTCTTGAACTCCCGA CCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGC GTGAGCCACCATGCCCAGCCAACTCCTGTTTTATAGTGTACTTTCTGGAA TATTATTCAGCTTTCTCTTGAATTCTTTTAGTAACTAGGAGTTCACTACG TTTCCATGGACCTAACTCCAATAATGATTGGACAGTTTTCTCTCTCTGCT TTTTCTTTCTTTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0116 a0001c0001t0116	a0001c0001t0116g0127 a0001c0001t0116g0127	1	388	0.0026	412	c.13 others(425): Show c.13077_*13078insCTTTTTTTTTTTTTGAGATGGCGTCTCCTCTG TCAATCTCGGTTCATTGCAACCTCCACCTCCCAAGCTCAAGCGATTCTTG TGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACACCT GGCTAATTTTTTTTTTTGGTAGAGACAGGGTTTCACCATGTTGACCAGGC TGGTCTTGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAA GTGCTAGGATTACAGGCGTGAGCCACCATGCCCAGCCAACTCCTGTTTTA TAGTGTACTTTCTGGAATATTATTCAGCTTTCTCTTGAATTCTTTTAGTA ACTAGGAGTTCACTACGTTTCCATGGACCTAACTCCAATAATGATTGGAC AGTTTTCTCTCTCTGCTTTTTCTTTCTTTC	MRPL42	ENSG00000198015.14	transcript	ENST00000549982.6	protein_coding	6/6	13078		chr12	TogoVar
MSLN_chr16_755734_773862	767566	T T	TGCGTGGA others(405): Show TGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGT GGAGGGGGGAGCGTGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGT GTGGGGGGGCGTGGAGGAGGGGCGTGTGGAGGGGGGCGCGTGGGGGGGGC GCATGGGGGGGCGTGGAGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAG GAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCACGTGG AGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGTGT GGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCG CGTGGGGGTGTGTGGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGTGC GTGGAGGAGGGGC	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	388	0.0026	412	c.159 others(429): Show c.1596+135_1596+136insAGGGGCGCGTGGAGGGGGGAGCGTGGGG GGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGA GGGGCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAG GGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGG TGTGGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAG GGGCGCGTGGAGGGGGCCGTGTGGGGGGGTGTGGAGGAGGGGCGCGTGGA GGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGG GGGCACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTG GAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767711	G G	GGCGTGGA others(405): Show GGCGTGGAGGAGGGGCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGG GGGGCGTGGAGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGC GCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTC GCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAG GGGCGCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGG GTGTGTGGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGGTGCGTGGAG GAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGG AGCGTGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGG CGTGGAGGGGGGC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	388	0.0026	412	c.159 others(429): Show c.1596+253_1596+254insGGCGTGTGGAGGGGGGCGCGTGGGGGGG GCGCATGGGGGGGCGTGGAGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGG AGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCACGT GGAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGC GTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGG CGCGTGGGGGTGTGTGGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGG TGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGT GGAGGGGGGAGCGTGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGT GTGGGGGGGCGTGGAGGGGGGCGCGTGGAGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MXRA5_chrX_3303565_3351652	3326168	T T	TTTATAAT others(405): Show TTTATAATATATAATTTATAATTATAATTTATAATATATAATTTATAATT ATAAATTATAAATTATAATATATAATTTATATATTATAAATTTATAATAT ATATATATAATTTATATATTATAATTTATAATATATAATTTATAATTATA AGTTATATATTATAATTTTTAATTATAAGTTATAATATATAATTTATAAT TATAAGTTATAATATATAACTTATAAGTTATAATATATAACTTATAAGTT ATAATATATAACTTATAAGTTATAATATATAACTTATAAGTTATAATATA TAACTTATAATTATAAGTTATAATATATAACTTATAATTATAAGTTATAA TATATAACTTATAAGTTATAATATATAACTTATAAGTTATAATATATAAC TTATAATTATAAG	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18946.hp2 NA18973.hp1 NA18944.hp1 NA18946.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0014 a0001c0001t0001g0043 a0001c0001t0001g0044	3	284	0.0106	412	c.710 others(429): Show c.710-1194_710-1193insCTTATAATTATAAGTTATATATTATAAC TTATAAGTTATATATTATAACTTATAAGTTATATATTATAACTTATAATT ATAAGTTATATATTATAACTTATAATTATAAGTTATATATTATAACTTAT AAGTTATATATTATAACTTATAAGTTATATATTATAACTTATAAGTTATA TATTATAACTTATAAGTTATATATTATAACTTATAATTATAAATTATATA TTATAACTTATAATTAAAAATTATAATATATAACTTATAATTATAAATTA TATATTATAAATTATAATATATAAATTATATATATATATTATAAATTTAT AATATATAAATTATATATTATAATTTATAATTTATAATTATAAATTATAT ATTATAAATTATAATTATAAATTATATATTATAA	MXRA5	ENSG00000101825.8	transcript	ENST00000217939.7	protein_coding	4/6			chrX	TogoVar
MYRIP_chr3_39804609_40265321	40084517	G G	GTAGATAA others(405): Show GTAGATAATACACATCTATGTATTATCTATCGGTAGATAATACACATCTA TGTATTATCTATCGGTAGATAATACACATCTATGTATTATCTATCGGTAG ATAATACACATCTATGTATTATCTATCGGTAGATAATACACATCTATGTA TTATCTATCGGTAGATAATACACATCTATGTATTATCTATCGATAGATAA TACACATCTATGTATTATCTATCGATAGATAATACACATCTATGTATTAT ATATCGATAGATAATACACATCTATGTATTATATATCGATAGATAATACA CATCTATGTATTATCTATCGATAATACACATCTATGTATTATCTATCGAT AGATAATACACATCTATGTATTATCTATCGATAGATAATACACATCTATG TATTATCTATCGA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0005 a0004c0009t0005	a0004c0009t0005g0114 a0004c0009t0005g0114	1	170	0.0059	412	c.332 others(431): Show c.332+40271_332+40272insCTATCGGTAGATAATACACATCTATG TATTATCTATCGGTAGATAATACACATCTATGTATTATCTATCGGTAGAT AATACACATCTATGTATTATCTATCGGTAGATAATACACATCTATGTATT ATCTATCGGTAGATAATACACATCTATGTATTATCTATCGATAGATAATA CACATCTATGTATTATCTATCGATAGATAATACACATCTATGTATTATAT ATCGATAGATAATACACATCTATGTATTATATATCGATAGATAATACACA TCTATGTATTATCTATCGATAATACACATCTATGTATTATCTATCGATAG ATAATACACATCTATGTATTATCTATCGATAGATAATACACATCTATGTA TTATCTATCGATAGATAATACACATCTATGTATTAT	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYRIP_chr3_39804609_40265321	40084517	G G	GTAGATAA others(405): Show GTAGATAATACACATCTATGTATTATCTATCGGTAGATAATACACATCTA TGTATTATCTATCGGTAGATAATACACATCTATGTATTATCTATCGGTAG ATAATACACATCTATGTATTATCTATCGGTAGATAATACACATCTATGTA TTATCTATCGGTAGATAATACACATCTATGTATTATCTATCGATAGATAA TACACATCTATGTATTATCTATCGATAGATAATACACATCTATGTATTAT CTATCGATAGATAATACACATCTATGTATTATCTATCGATAATACACATC TATGTATTATCTATCGATAGATAATACACATCTATGTATTATCTATCGAT AGATAATACACATCTATGTATTATCTATCGATAGATAATACACATCTATG TATTATCTATCGA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	170	0.0059	412	c.332 others(431): Show c.332+40271_332+40272insCTATCGGTAGATAATACACATCTATG TATTATCTATCGGTAGATAATACACATCTATGTATTATCTATCGGTAGAT AATACACATCTATGTATTATCTATCGGTAGATAATACACATCTATGTATT ATCTATCGGTAGATAATACACATCTATGTATTATCTATCGATAGATAATA CACATCTATGTATTATCTATCGATAGATAATACACATCTATGTATTATCT ATCGATAGATAATACACATCTATGTATTATCTATCGATAATACACATCTA TGTATTATCTATCGATAGATAATACACATCTATGTATTATCTATCGATAG ATAATACACATCTATGTATTATCTATCGATAGATAATACACATCTATGTA TTATCTATCGATAGATAATACACATCTATGTATTAT	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYRIP_chr3_39804609_40265321	40084517	G G	GTAGATAA others(405): Show GTAGATAATACACATCTATGTATTATCTATCGGTAGATAATACACATCTA TGTATTATCTATCGGTAGATAATACACATCTATGTATTATCTATCGGTAG ATAATACACATCTATGTATTATCTATCGGTAGATAATACACATCTATGTA TTATCTATCGGTAGATAATACACATCTATGTATTATCTATCGGTAGATAA TACACATCTATGTATTATCTATCGGTAGATAATACACATCTATGTATTAT CTATCGATAGATAATACACATCTATGTATTATCTATCGATAATACACATC TATGTATTATCTATCGATAGATAATACACATCTATGTATTATCTATCGAT AGATAATACACATCTATGTATTATCTATCGATAGATAATACACATCTATG TATTATCTATCGA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	170	0.0059	412	c.332 others(431): Show c.332+40271_332+40272insCTATCGGTAGATAATACACATCTATG TATTATCTATCGGTAGATAATACACATCTATGTATTATCTATCGGTAGAT AATACACATCTATGTATTATCTATCGGTAGATAATACACATCTATGTATT ATCTATCGGTAGATAATACACATCTATGTATTATCTATCGGTAGATAATA CACATCTATGTATTATCTATCGGTAGATAATACACATCTATGTATTATCT ATCGATAGATAATACACATCTATGTATTATCTATCGATAATACACATCTA TGTATTATCTATCGATAGATAATACACATCTATGTATTATCTATCGATAG ATAATACACATCTATGTATTATCTATCGATAGATAATACACATCTATGTA TTATCTATCGATAGATAATACACATCTATGTATTAT	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYT1_chr20_64159452_64247253	64173701	G G	GTAGTTGT others(405): Show GTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTCCTGCAGCATCTTTC CTTGTAGTTGTGTCCATTTTCCCTCCCTGACTTCTCCTCCTGCAGCATCT TTCCTAGTTGTGTCCATTTCCCCTCCCTGACTTCTCCTCCTGCAGCATCC TTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGACTTCTCCTCCTGCAGCA TCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTCCTGCAGCA TCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGACTTCTCCTCCTGCAGCA TCTTTCCTTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTCCTGCA GCATCTTTCCTTGTAGTTGTGTCCATTTTCCCTCCCTGACTTCTCCTCCT GCAGCATCTTTCC	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01978.hp2 HG02129.hp2 others(7): Show HG01258.hp1 HG01978.hp2 HG02129.hp2 HG02602.hp1 HG03669.hp2 HG03704.hp1 HG03834.hp2 HG03942.hp2 HG04228.hp2 NA18971.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0004c0009	a0001c0001t0001 a0001c0001t0016 a0001c0002t0002 others(4): Show a0001c0001t0001 a0001c0001t0016 a0001c0002t0002 a0001c0002t0018 a0001c0004t0004 a0001c0006t0001 a0004c0009t0001	a0001c0001t0001g0038 a0001c0001t0016g0039 a0001c0002t0002g0032 others(7): Show a0001c0001t0001g0038 a0001c0001t0016g0039 a0001c0002t0002g0032 a0001c0002t0002g0043 a0001c0002t0018g0035 a0001c0004t0004g0031 a0001c0004t0004g0033 a0001c0004t0004g0034 a0001c0006t0001g0036 a0004c0009t0001g0041	10	223	0.0448	412	c.-99 others(429): Show c.-99+8987_-99+8988insGCTTCTCCTCCTGCAGCATCTTTCCTTG TAGTTGTGTCCATTTTCCCTCCCTGACTTCTCCTCCTGCAGCATCTTTCC TAGTTGTGTCCATTTCCCCTCCCTGACTTCTCCTCCTGCAGCATCCTTCC CTGTAGTTGTGTCCATTTCCCCTCCCTGACTTCTCCTCCTGCAGCATCTT TCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTCCTGCAGCATCTT TCCTAGTTGTGTCCATTTCCCCTCCCTGACTTCTCCTCCTGCAGCATCTT TCCTTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTCCTGCAGCAT CTTTCCTTGTAGTTGTGTCCATTTTCCCTCCCTGACTTCTCCTCCTGCAG CATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTG	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64233262	T T	TCCCCTTT others(405): Show TCCCCTTTCCCTCCTCCCCTCTTCCCTCCCTCTCTCTCCTCCCCCTCCCC TCTTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCTCCCTCCCCTTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CTCCCTCCCCTGCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTT CCCCTCCCCTCTTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCT CCCCTCTCCCTTC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	223	0.0045	412	c.289 others(429): Show c.2897+879_2897+880insCCTTTCCCTCCTCCCCTCTTCCCTCCCT CTCTCTCCTCCCCCTCCCCTCTTCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCTCCCTCCCCTTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCTCCCTCCCCTGCCCCTCCCCTCTCCCTCCC CTTCCCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTTCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTTCCCCTCCCCTCTCCCTTCCC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64233262	T T	TCCCCTTT others(405): Show TCCCCTTTCCCTCCTCCCCTCTTCCCTCCCTCTCTCTCCTCCCCCTCCCC TCTTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CTCCCTCCCCTGCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTT CCCCTCCCCTCTTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCT CCCCTCTCCCTTC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	223	0.0045	412	c.289 others(429): Show c.2897+879_2897+880insCCTTTCCCTCCTCCCCTCTTCCCTCCCT CTCTCTCCTCCCCCTCCCCTCTTCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCTCCCTCCCCTTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCTCCCTCCCCTGCCCCTCCCCTCTCCCTCCC CTTCCCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTTCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTTCCCCTCCCCTCTCCCTTCCC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NCR1_chr19_54901148_54918073	54916317	C C	CTTTTTTT others(405): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGAA GTCCTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTTGACTCTG CAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAAGTGCGTGCCACCACGCCCGGCTAATTTTTGTATTT TTAGTAGAGATGGGGTTTCTCCATGTTGGTCTCAAACTCCTGGTCTCAGG TGATCCACCCGCCTTGGCCTCCCCAAAGTGCTGGGATTACAGACGTGAGC CACCACACCCAGCTACTTGTGCTTTTTGACCCAACATCTTCCTCTCCTAC CACCCCCAGCCCCTGATAACCTCCACCTACTCTCACTTCTAGGAGATCAA CTGTTCTATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0127 a0003c0004t0006g0127	1	457	0.0022	412	c.34 others(423): Show c.3446_*3447insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGAAGTCCTGCTCTGTCACCCAGGCTGGAGTGCAGTGGC GCGATCTTGACTCTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGACTACAAGTGCGTGCCACCACGCCCGG CTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCTCAA ACTCCTGGTCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAAGTGCTGGG ATTACAGACGTGAGCCACCACACCCAGCTACTTGTGCTTTTTGACCCAAC ATCTTCCTCTCCTACCACCCCCAGCCCCTGATAACCTCCACCTACTCTCA CTTCTAGGAGATCAACTGTTCTATTTTT	NCR1	ENSG00000189430.13	transcript	ENST00000291890.9	protein_coding		3245		chr19	TogoVar
NCR1_chr19_54901148_54918073	54916317	C C	CTTTTTTT others(405): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG AAGTCCTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTTGACTC TGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAAGTGCGTGCCACCACGCCCGGCTAATTTTTGTAT TTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCTCAAACTCCTGGTCTCA GGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACGTGAG CCACCACACCCAGCTACTTGTGCTTTTTGACCAACATCTTCCTCTCCTAC CACCCCCAGCCCCTGATAACCTCCACCTACTCTCACTTCTAGGAGATCAA CTGTTCTATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0102 a0003c0004t0006g0102	1	457	0.0022	412	c.34 others(423): Show c.3446_*3447insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGAAGTCCTGCTCTGTCACCCAGGCTGGAGTGCAGTG GCGCGATCTTGACTCTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGACTACAAGTGCGTGCCACCACGCCC GGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCTC AAACTCCTGGTCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGG GATTACAGACGTGAGCCACCACACCCAGCTACTTGTGCTTTTTGACCAAC ATCTTCCTCTCCTACCACCCCCAGCCCCTGATAACCTCCACCTACTCTCA CTTCTAGGAGATCAACTGTTCTATTTTT	NCR1	ENSG00000189430.13	transcript	ENST00000291890.9	protein_coding		3245		chr19	TogoVar
NDUFV3_chr21_42888309_42918299	42894401	T T	TAATATAT others(405): Show TAATATATATTATATATAAATATATAATATATATAATATATATTATATAT AAATATATAATATATATAATATATATTATATATAAATATATAATATATAT AATATATATTATATATAAATATATAATATATATAATATATATTATATATA AATATATAATATATATAATATATATTATATATAAATATATAATATATATT ATATATAAATATATATTATATATTATATATTTATATATTATAATATATAA TATATATAATATATAATATATAATATATAAATATATTATAATATATAATA TATATTATATATAAATATATAATATATAATGTATATTATATTATATATAT TATATAATATGTAAATATATATTATATATATTATATAATATATAATATAT TATATAATATATA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0028 a0004c0009t0028	a0004c0009t0028g0049 a0004c0009t0028g0049	1	348	0.0029	412	c.48+ others(427): Show c.48+1020_48+1021insAATATATATTATATATAAATATATAATATA TATAATATATATTATATATAAATATATAATATATATAATATATATTATAT ATAAATATATAATATATATAATATATATTATATATAAATATATAATATAT ATAATATATATTATATATAAATATATAATATATATAATATATATTATATA TAAATATATAATATATATTATATATAAATATATATTATATATTATATATT TATATATTATAATATATAATATATATAATATATAATATATAATATATAAA TATATTATAATATATAATATATATTATATATAAATATATAATATATAATG TATATTATATTATATATATTATATAATATGTAAATATATATTATATATAT TATATAATATATAATATATTATATAATATATA	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3			chr21	TogoVar
NHLRC4_chr16_562005_574495	571109	C C	CTGCCTAG others(405): Show CTGCCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGTCT GGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGT CTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTAT GTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGT GTGTGTGTGTGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGT GTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGT GTGGCTAGCCTGGCGCCTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGGCT AGCCTGGCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	424	0.0024	412	c.26 others(423): Show c.2690_*2691insTGCCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTG TGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTG TGTGTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTG TGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCC CGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGC CTGGTGCCCGTGTGTGTGTGTGTGTGGGGGGGCTAGCCTTGTGTGTGTGT GTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCT AGCCTGTGTGTGTGTGTGGCTAGCCTGGCGCCTGTGTGTGTGTGTGTGTG TGTGTGTGTCTGGCTAGCCTGGCACCCG	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1615		chr16	TogoVar
NLRP8_chr19_55942832_55993629	55993551	C C	CCCCTCCC others(405): Show CCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCC TCCCCTCCCCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCCTCCCCCCTCCCCTCC CCCCTCCCCTCCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCC CCTCCCCTCCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCC TCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCC CCTCCCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0000 a0000	a0000c0016 a0000c0016	a0000c0016t0041 a0000c0016t0041	a0000c0016t0041g0183 a0000c0016t0041g0183	1	350	0.0029	412	c.56 others(423): Show c.5638_*5639insCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCCTCCCCCTCCCCTCCCCTCCCCCCCCCTCCCCTCCCCCCTCCCCTCC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCC TCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCCTCCCCT CCCCCTCCCCTCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCCTCCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4923		chr19	TogoVar
NOTCH1_chr9_136489433_136551048	136535856	C C	CCCGGGGC others(405): Show CCCGGGGCAATGAGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCC TCCCAGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATC CCTCCCGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGAT CCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGAGCACTCAGGA TCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGA TCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGGGGGGAGCACTCAGGA TCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGGGGGGAGCACTCAGGA TCCCTCCCAGGGGCAATGGGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGC ACTCAGGATCCCT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0026 a0001c0005t0008g0026	1	324	0.0031	412	c.140 others(429): Show c.140+8167_140+8168insAGGGATCCTGAGTGCTCCCCCCTCCACC CACTCCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCC CCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCC CCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCC CCGACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCC CTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCC CCCTCCACCCACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGCTCC CCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCT CCCCCCTCCACCCACCCTGCACTCATTGCCCCGG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
OSGIN1_chr16_83948240_83971332	83951962	C C	CCCTCCCT others(405): Show CCCTCCCTCTTCCCTTCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTCCC TGCCTCCCTCCCCCTCCCTCCTTCCCTCCCTGCCTTCCTCCCCCTTTCCC TCCCTCCCTCCTTCCCTCCTTCCTCCCTTCCTCCTTCCCTCCCTCCTCCC TTCCTCCTTCCCTCCCTCCTCCTTTCCTCCTCCCCTCCATCCCTTCCTCC TTCCCTCCCTCCCTCCTTCCCTCCCTGCCTTCCACCCTCCTTCCCTCCCT CCTCCCTTCCTCCCTCCTTCCCTCCGTCCTCCCTTCCTCCCTCCCTCCCT ACTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTCCTTCCCTCC CTCCCTGCCTTCCTCCCTCCTTCCTTCCCTCCCTCCCTGCCTCCCTCCTT CCCTCCCTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0151 a0001c0002t0001g0151	1	350	0.0029	412	c.-14 others(423): Show c.-1441_-1440insCCTCCCTCTTCCCTTCCTCCTTCCCTCCCTCCCT CCTTCCCTCCCTCCCTGCCTCCCTCCCCCTCCCTCCTTCCCTCCCTGCCT TCCTCCCCCTTTCCCTCCCTCCCTCCTTCCCTCCTTCCTCCCTTCCTCCT TCCCTCCCTCCTCCCTTCCTCCTTCCCTCCCTCCTCCTTTCCTCCTCCCC TCCATCCCTTCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTGCCTTCCAC CCTCCTTCCCTCCCTCCTCCCTTCCTCCCTCCTTCCCTCCGTCCTCCCTT CCTCCCTCCCTCCCTACTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCC TCCCTCCTTCCCTCCCTCCCTGCCTTCCTCCCTCCTTCCTTCCCTCCCTC CCTGCCTCCCTCCTTCCCTCCCTCCCTG	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		1277		chr16	TogoVar
P2RY8_chrX_1457581_1542185	1468724	T T	TCCGGAAG others(405): Show TCCGGAAGAGAGAAGCGAGAAGAGAGAAGACACGCAGAGAAAACGAGAAC CAAGAGAACGAGCAACAAAGAGAGAAGAGAAAAGAGGAAACGAAGAAAAC AGGCAAAAGGAAAAGAGAAAACAAAAGAAACAAAGGAAGGAAGAGAAACG CGAACAAGAAAGGGACGAGGAAGAACAAAGAAAGAACGATAAAGCAAGAA AGAGCCACCCTCTCCCCCCTCACTCGCCCGTGCTAGCTCCAATGCACGGA CGCCGAAAGAAAAGGCGAAAGCGAGAAAGCGCAAAGAGCAAGGAAACGAG CAAGCACAAGAGAAAGAGAAACAGAGAACAACGGAAAGAGCAAACGCAGA ACAGAGAAAAGACGAAAAACAGCAACCGGCACCCCTCGCCCCTCCGCCTT CACGCGCCAATCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0110 a0001c0001t0025g0110	1	114	0.0088	412	c.-24 others(429): Show c.-24-2143_-24-2142insGGATTGGCGCGTGAAGGCGGAGGGGCGA GGGGTGCCGGTTGCTGTTTTTCGTCTTTTCTCTGTTCTGCGTTTGCTCTT TCCGTTGTTCTCTGTTTCTCTTTCTCTTGTGCTTGCTCGTTTCCTTGCTC TTTGCGCTTTCTCGCTTTCGCCTTTTCTTTCGGCGTCCGTGCATTGGAGC TAGCACGGGCGAGTGAGGGGGGAGAGGGTGGCTCTTTCTTGCTTTATCGT TCTTTCTTTGTTCTTCCTCGTCCCTTTCTTGTTCGCGTTTCTCTTCCTTC CTTTGTTTCTTTTGTTTTCTCTTTTCCTTTTGCCTGTTTTCTTCGTTTCC TCTTTTCTCTTCTCTCTTTGTTGCTCGTTCTCTTGGTTCTCGTTTTCTCT GCGTGTCTTCTCTCTTCTCGCTTCTCTCTTCCGG	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(405): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTAATACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAACATGTATTACATATATGTA ATACACATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	400	0.0025	412	c.70 others(423): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAA TACATATATAACATATATGTATTACATATATGTAATACATATATAACATG TATTACATATATGTAATACACATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(405): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTAATACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAACATGTATTACATATATGTA ATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	400	0.0025	412	c.70 others(423): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAA TACATATATAACATATATGTATTACATATATGTAATACATATATAACATG TATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(405): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAA TACATATATAACATATATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAACATGTATTACATATATGTA ATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0005 a0001c0001t0006g0005	1	400	0.0025	412	c.70 others(423): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTAATACATATATAACATATATGTATTACATATATGTAA TACATATATAACATATATGTATTACATATATGTAATACATATATAACATG TATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(405): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAACATGTATTACATATATGTA ATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 NA18612.hp1 NA18942.hp2 others(2): Show HG01169.hp2 NA18612.hp1 NA18942.hp2 NA18948.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0040 a0001c0001t0001 a0001c0001t0002 a0001c0001t0040	a0001c0001t0001g0001 a0001c0001t0001g0027 a0001c0001t0002g0012 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0027 a0001c0001t0002g0012 a0001c0001t0040g0001	5	400	0.0125	412	c.70 others(423): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAA TACATATATAACATATATGTATTACATATATGTAATACATATATAACATG TATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(405): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAATATGTATTACATATATGTA ATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	400	0.0025	412	c.70 others(423): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAA TACATATATAACATATATGTATTACATATATGTAATACATATATAATATG TATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(405): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTAATACATATATAACATGTATTACATATATGTA ATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	400	0.0050	412	c.70 others(423): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTAATACATATATAACATG TATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar

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