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
IPO11_chr5_62407763_62633582	62598528	T T	TTTTCTTT others(523): Show TTTTCTTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTT TCTTTCTTATTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCATTCTTTCTTTC TTCTCTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTCTTT CTTTCTTCTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	330	0.0030	530	c.267 others(549): Show c.2679-3234_2679-3233insTCTTTTCTTTCTTTCTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTCTTTCTTTCTTTCTTTCTTTCTTATTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTT CTTTCTTTCATTCTTTCTTTCTTCTCTTCTTTCTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTCTTCTTTCTTTCTTCTTCTTTCTTTCTTTCTTTCTT TCTT	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	28/29		INFO_REALIGN_3_PRIME	chr5	TogoVar
LHPP_chr10_124456823_124619141	124471472	T T	TATTTTAT others(523): Show TATTTTATATATATTTATATATATATAAATTTTTTTATATTTATATATTT TTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTTA TATATTTTATATATTTATATATTTTTTATATATTTATATATTTATATATA TATTTATATATATTTATGTATATTTATATATATATTTATATATTTATGTA TATTTATATATATATTTATATATATTTATGTATATTTATATATATATTTA TATATATTTATGTATATTTATATATATATTTATATATATTTATGTATATT TATATATATTTATATATTTATGTATATATTTATATATATTTATATATTTA TGTATAAATTTATATATATTTATATGTATTTATATATATTTATATGTATT TATATATATTTATATATTTATATGTATTTATACATATATATTTATATGTA TTTATATATATTTATATATATTTTTTATGTATTTATATATATTTATATAT ATATTTATATATATTTATATATATATATTTA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	260	0.0039	530	c.125 others(547): Show c.125+9485_125+9486insATTTTATATATATTTATATATATATAAA TTTTTTTATATTTATATATTTTTTATATATTTATATATATTACATATATT TTTATATTTTATATATATTTATATATTTTATATATTTATATATTTTTTAT ATATTTATATATTTATATATATATTTATATATATTTATGTATATTTATAT ATATATTTATATATTTATGTATATTTATATATATATTTATATATATTTAT GTATATTTATATATATATTTATATATATTTATGTATATTTATATATATAT TTATATATATTTATGTATATTTATATATATTTATATATTTATGTATATAT TTATATATATTTATATATTTATGTATAAATTTATATATATTTATATGTAT TTATATATATTTATATGTATTTATATATATTTATATATTTATATGTATTT ATACATATATATTTATATGTATTTATATATATTTATATATATTTTTTATG TATTTATATATATTTATATATATATTTATATATATTTATATATATATATT TA	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6			chr10	TogoVar
LHPP_chr10_124456823_124619141	124471507	T T	TTTTTTAT others(523): Show TTTTTTATATATTTATATATATTACATATATTTTTATATTTTATATATAT TTATATATTTTATATATTTATATATTTTTTATATATTTATATATTTATAT ATATATTTATATATATTTATGTATATTTATATATATATTTATATATATTT ATGTATATTTATATATATATTTATATATATTTATGTATATTTATATATAT TTATATATTTATGTATATATTTATATATATTTATATATTTATGTATAAAT TTATATATATTTATATGTATTTATATATATATTTATATGTATTTTTATAT ATTTATATATTTATATGTATTTATACATATATATTTATATGTATTTATAC ATATATATTTATATGTATTTATATATATTTATATATATTTTTTATGTATT TATATATATTTATATATATATTTATATATATTTATATATATATTTATATA TATTTATATATATATTTATATATATATTTATATATATATTTATATATATA TTTATATATATATTTATATATATATTATTTA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	260	0.0039	530	c.125 others(547): Show c.125+9521_125+9522insTTTTATATATTTATATATATTACATATA TTTTTATATTTTATATATATTTATATATTTTATATATTTATATATTTTTT ATATATTTATATATTTATATATATATTTATATATATTTATGTATATTTAT ATATATATTTATATATATTTATGTATATTTATATATATATTTATATATAT TTATGTATATTTATATATATTTATATATTTATGTATATATTTATATATAT TTATATATTTATGTATAAATTTATATATATTTATATGTATTTATATATAT ATTTATATGTATTTTTATATATTTATATATTTATATGTATTTATACATAT ATATTTATATGTATTTATACATATATATTTATATGTATTTATATATATTT ATATATATTTTTTATGTATTTATATATATTTATATATATATTTATATATA TTTATATATATATTTATATATATTTATATATATATTTATATATATATTTA TATATATATTTATATATATATTTATATATATATTTATATATATATTATTT AT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF1_chr16_848634_975984	894225	G G	GCCCACCC others(523): Show GCCCACCCGTCCCCCTGTCCACCGGACCGTCCGCCCACCCGTCCCCATGT CCATCAGACCGTCCGTCCACCTGTCCCCCTGTCCCCTGTCCACCGGACCA TTCGCCCACCCATCCCCCTGTCCACCTGGCCATCCGCCCACCTGTCTCCT GTCCACCGGACCGTCCACCCACCCGTCCCCCTGTCCACTGGACTGTCCGC CCACCTGTCCCCCTGTCCCCTGTCCACCGGACTGTCTGCCCACCCGTCCC CCTGTCCACCTGGCCATCCGCCCACCCATCCCCTGTCCACCGGACCGTCC ACCCACCCGTCCCCCTGTCCAGCAGAACGTCCACCCACCCGTCCCCCTGT CCACTGGACTGTCCGCCCACCTGTCCCCCTGTCCCCTGTCCACCGGACCG TCTGCCCACCCGTCCCCCTGTCCACCTGGCCATCCGCCCACCCATCCCCT GTCCACTGGACCGTCCACCCACCCGTCCCCCTGTCCAGCGGACCGTCCAC CCACCCGTCCCCCTGTCCAGCGGACCGTCCA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03516.hp1 HG03579.hp1 HG02976.hp1 HG03516.hp1 HG03579.hp1	a0001 a0009 a0001 a0009	a0001c0060 a0009c0024 a0001c0060 a0009c0024	a0001c0060t0002 a0009c0024t0001 a0001c0060t0002 a0009c0024t0001	a0001c0060t0002g0128 a0009c0024t0001g0117 a0009c0024t0001g0118 a0001c0060t0002g0128 a0009c0024t0001g0117 a0009c0024t0001g0118	3	294	0.0102	530	c.664 others(547): Show c.664-1154_664-1153insTGGACGGTCCGCTGGACAGGGGGACGGG TGGGTGGACGGTCCGCTGGACAGGGGGACGGGTGGGTGGACGGTCCAGTG GACAGGGGATGGGTGGGCGGATGGCCAGGTGGACAGGGGGACGGGTGGGC AGACGGTCCGGTGGACAGGGGACAGGGGGACAGGTGGGCGGACAGTCCAG TGGACAGGGGGACGGGTGGGTGGACGTTCTGCTGGACAGGGGGACGGGTG GGTGGACGGTCCGGTGGACAGGGGATGGGTGGGCGGATGGCCAGGTGGAC AGGGGGACGGGTGGGCAGACAGTCCGGTGGACAGGGGACAGGGGGACAGG TGGGCGGACAGTCCAGTGGACAGGGGGACGGGTGGGTGGACGGTCCGGTG GACAGGAGACAGGTGGGCGGATGGCCAGGTGGACAGGGGGATGGGTGGGC GAATGGTCCGGTGGACAGGGGACAGGGGGACAGGTGGACGGACGGTCTGA TGGACATGGGGACGGGTGGGCGGACGGTCCGGTGGACAGGGGGACGGGTG GG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	4/10			chr16	TogoVar
MACF1_chr1_39199695_39492138	39234647	A A	ACCGCCCC others(523): Show ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGAC CGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGAC CCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCCACCTCCCTCCCGGAT GGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGAC GGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATG GGGCGGCTGGCCTGGCGGGGGGCTGACCCCC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0124 a0003c0002t0001g0124	1	246	0.0041	530	c.171 others(547): Show c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGGGGGGCTGACCCCCCCCGCCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCC CCCCACCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCC CCCCACCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCC CC	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	2/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAPK11_chr22_50258713_50275380	50274865	C C	CTCCCAAC others(523): Show CTCCCAACCCCCCCACCTCCCCCCAGCACCCCTCCCAACCCCCCACCTCC CCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCCAGCACCCCTCCCAG CCCCCTCCACCTCCCCCCAGCACCCCTCCCAGCCCCCCTCCACCTCCCCC CAGCACCCCTCCCAGCCCCCTCCACCTCCCCCCAGCACCCCTCCCAGCCC CCTCCACCTCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCAGCACC CCTCCCAGCCCCCTCCACCTCCCCCAGTACCCCTCCCAGCCCCTTCCACC TCCCCCAGCACCCCTCCCAACCCCCCACCTCCCCCCAGCACCCCTCCCAG CCCCCTCCACCTCCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCA GCACCCCTCCCAGCCCCCTCCACCTCCCCCAGCACCACCCCCAGCCCCCT CCACCTCCCCCAGCATCCCTCCCAGCCCCCTCCACCTTTCCCAGCACCCT TCCCAGCCCCTCCACCTCCCCACAGCTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0012 a0001c0001t0005g0012	1	428	0.0023	530	c.-45 others(541): Show c.-4574_-4573insTGGGAGCTGTGGGGAGGTGGAGGGGCTGGGAAGG GTGCTGGGAAAGGTGGAGGGGGCTGGGAGGGATGCTGGGGGAGGTGGAGG GGGCTGGGGGTGGTGCTGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGG GGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGGAGGTGGAGGGGGCTG GGAGGGGTGCTGGGGGGAGGTGGGGGGTTGGGAGGGGTGCTGGGGGAGGT GGAAGGGGCTGGGAGGGGTACTGGGGGAGGTGGAGGGGGCTGGGAGGGGT GCTGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGAGGTGGAGGGGG CTGGGAGGGGTGCTGGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGG GGAGGTGGAGGGGGGCTGGGAGGGGTGCTGGGGGGAGGTGGAGGGGGCTG GGAGGGGTGCTGGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGGA GGTGGGGGGTTGGGAGGGGTGCTGGGGGGAGGTGGGGGGGTTGGGA	MAPK11	ENSG00000185386.15	transcript	ENST00000330651.11	protein_coding		4486		chr22	TogoVar
MBNL3_chrX_132364320_132494038	132396715	C C	CATATATA others(523): Show CATATATAGATTCATATATAGATTCATATATATATTCATATATATTCATA TATATATATTCATATATATTCATATATATATTCATATATATATTCATATA TATTCATATATATATTCATATATATATTCATATATATATTCATATATATA TTCATATATATTCATATATATATTCATATATATTCATATATATATTCATA TATATATTCATATATATATTCATATATATTCATATATATATTCATATATA TATTCATATATATATTCATATATATTCATATATATATTCATATATATATT CATATATATATTCATATATATATTCATATATATATTCATATATATTCATA TATATATTCATATATATTCATATATATATTCATATATATATTCATATATA TATTCATATATATTCATATATATATTCATATATATATTCATATATATATT CATATATATATTCATATATATATTCATATATATTCATATATATATTCATA TATATATTCATATATATTCATATATATTCAT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0099 a0001c0001t0018g0099	1	191	0.0052	530	c.343 others(547): Show c.343-4382_343-4381insATGAATATATATGAATATATATGAATAT ATATATGAATATATATATGAATATATATGAATATATATATGAATATATAT ATGAATATATATATGAATATATATATGAATATATATATGAATATATATGA ATATATATATGAATATATATATGAATATATATATGAATATATATGAATAT ATATATGAATATATATGAATATATATATGAATATATATATGAATATATAT ATGAATATATATATGAATATATATATGAATATATATGAATATATATATGA ATATATATATGAATATATATATGAATATATATGAATATATATATGAATAT ATATATGAATATATATATGAATATATATGAATATATATATGAATATATAT GAATATATATATGAATATATATATGAATATATATATGAATATATATATGA ATATATATGAATATATATATGAATATATATATGAATATATATGAATATAT ATATATGAATATATATGAATATATATATGAATCTATATATGAATCTATAT AT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MSH4_chr1_75791882_75918242	75906495	T T	TATTATAT others(523): Show TATTATATATAATATATATACAATATTATATATATTATATATAATATATA TACATATTATATATATTATATATATACATATATATGTATATATACATATA TAATATGTATATATGTATATATATGTATAATATATATATTGTATATATAT ATTATACATATGTATATATATATTATACATATATATATGTATAATATATA TAATGTATATATATACATATTATATATTATATATAATATATACATATATA TTATATATAATATATACATATATATTATATATAATATATACATATTATAT ATTATATATATAATATATATACATATTATATTATATATAATATATATACA TATTACATATATTATATATAATATATATACATATATAATATATTATATAT TATATATAATATATATAATATATAATATATATATAATATAATATATTATA TATTATATATAATATATATAATATATAATATATTATATATTATATATAAT ATATATAATATATAATATATTATATAATATA	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0316 a0001c0002t0001g0316	1	332	0.0030	530	c.262 others(549): Show c.2620-6201_2620-6200insATTATATATAATATATATACAATATT ATATATATTATATATAATATATATACATATTATATATATTATATATATAC ATATATATGTATATATACATATATAATATGTATATATGTATATATATGTA TAATATATATATTGTATATATATATTATACATATGTATATATATATTATA CATATATATATGTATAATATATATAATGTATATATATACATATTATATAT TATATATAATATATACATATATATTATATATAATATATACATATATATTA TATATAATATATACATATTATATATTATATATATAATATATATACATATT ATATTATATATAATATATATACATATTACATATATTATATATAATATATA TACATATATAATATATTATATATTATATATAATATATATAATATATAATA TATATATAATATAATATATTATATATTATATATAATATATATAATATATA ATATATTATATATTATATATAATATATATAATATATAATATATTATATAA TATA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19			chr1	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(523): Show AATATATATATTTAAATATAAGTATATATAAATATATATATTTCAATATA AGTATATATAAATATATATATTTCAATATAAGTATATATAAATATATATA TTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATATATA AATATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATA TAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAATA TATATATTTCAATATAAGTATGTATAAATATATATATTTCAATATAAGTA TGTATAAATATATATATTTCAATATAAGTATATATAAAAATATATATATT TCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTATATATA AAAATATATATATTTAAATATAAGTATATATAAAAATATATATATTTAAA TATAAGTATATATAAAAATATATATATTTAAATATAAGTATATATAAATA TATATATTTAAATATAAGTATATATATAAAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0019 a0007c0011t0019	a0007c0011t0019g0126 a0007c0011t0019g0126	1	326	0.0031	530	c.358 others(547): Show c.358+3191_358+3192insATTTAAATATAAGTATATATAAATATAT ATATTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATAT ATAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCAAT ATAAGTATATATAAATATATATATTTCAATATAAGTATGTATATAAATAT ATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAGT ATGTATATAAATATATATATTTCAATATAAGTATGTATAAATATATATAT TTCAATATAAGTATGTATAAATATATATATTTCAATATAAGTATATATAA AAATATATATATTTCAATATAAGTATATATAAAAATATATATATTTCAAT ATAAGTATATATAAAAATATATATATTTAAATATAAGTATATATAAAAAT ATATATATTTAAATATAAGTATATATAAAAATATATATATTTAAATATAA GTATATATAAATATATATATTTAAATATAAGTATATATATAAATATATAT AT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(523): Show AATATATATATTTAAATATAAGTATATGTAAATATATATATTTCAATATA AGTATATGTAAATATATATATTTCAATATAAGTATATATAAATATATATA TTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATATATA AATATATATATTTCAATATAAGTATATATAAATATATATATTTCAATATA AGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAATATA TATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAGTA TGTATATAAATATATATATTTCAATATAAGTATATATAAAAATATATATA TTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTA TAAAAATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAA TATAAGTATGTATAAATATATATATTTCAATATAAGTATATATAAAAATA TATATATTTCAATATAAGTATATATAAAAAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0108 a0001c0002t0003g0108	1	326	0.0031	530	c.358 others(547): Show c.358+3191_358+3192insATTTAAATATAAGTATATGTAAATATAT ATATTTCAATATAAGTATATGTAAATATATATATTTCAATATAAGTATAT ATAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCAAT ATAAGTATATATAAATATATATATTTCAATATAAGTATATATAAATATAT ATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAGTAT GTATATAAATATATATATTTCAATATAAGTATGTATATAAATATATATAT TTCAATATAAGTATGTATATAAATATATATATTTCAATATAAGTATATAT AAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTTCA ATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAAAT ATATATATTTCAATATAAGTATGTATAAATATATATATTTCAATATAAGT ATATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATAT AT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(523): Show AATATATATATTTCAATATAAGTATATATAAATATATATATTTCAATATA AGTATATATAAATATATATATTTCAATATAAGTATATATAAATATATATA TTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATATATA AATATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATA TAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAATA TATATATTTCAATATAAGTATGTATAAATATATATATTTCAATATAAGTA TGTATAAATATATATATTTCAATATAAGTATATATAAAAATATATATATT TCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTATATATA AAAATATATATATTTAAATATAAGTATATATAAAAATATATATATTTAAA TATAAGTATATATAAAAATATATATATTTAAATATAAGTATATATAAATA TATATATTTAAATATAAGTATATATATAAAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0019 a0007c0011t0019	a0007c0011t0019g0127 a0007c0011t0019g0127	1	326	0.0031	530	c.358 others(547): Show c.358+3191_358+3192insATTTCAATATAAGTATATATAAATATAT ATATTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATAT ATAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCAAT ATAAGTATATATAAATATATATATTTCAATATAAGTATGTATATAAATAT ATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAGT ATGTATATAAATATATATATTTCAATATAAGTATGTATAAATATATATAT TTCAATATAAGTATGTATAAATATATATATTTCAATATAAGTATATATAA AAATATATATATTTCAATATAAGTATATATAAAAATATATATATTTCAAT ATAAGTATATATAAAAATATATATATTTAAATATAAGTATATATAAAAAT ATATATATTTAAATATAAGTATATATAAAAATATATATATTTAAATATAA GTATATATAAATATATATATTTAAATATAAGTATATATATAAATATATAT AT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(523): Show GTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGT GGTGGTGATGGTGGCGGCGGTGGCAGTAGTGGTGGTGGTGGTGATGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTG GTAGTCGTGGTGGTAGTGGTAATGATGGTGGTGACCATGATGGTGGTGGT AGTGGTAGTGCTGCTGGTGGTGGTGGTGGTGATGGTGATGGTGGTGGTGG TGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTG GTGGTGGCGGCGATGGTGGTGGTGGTGATGGTGGCGGCGGTGGCAGTAGT GGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGG TGGTAGTGGTGGTGGTGGTGGTAGTCGTGGTGGTAGTGGTAATGATGGTG GTGACCATGATGGTGGTGGTAGTGGTAGTGCTGCTGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGATGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02145.hp2 HG03453.hp2 HG01243.hp2 HG02145.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0327 a0001c0001t0004g0328 a0001c0001t0004g0329 a0001c0001t0004g0327 a0001c0001t0004g0328 a0001c0001t0004g0329	3	384	0.0078	530	c.160 others(547): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGGT CACCACCATCATTACCACTACCACCACGACTACCACCACCACCACCACTA CCACCACCACCACCACCACCACCATCACCACCACCACCATCACCACCACC ACCACTACTGCCACCGCCGCCACCATCACCACCACCACCATCGCCGCCAC CACCACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCA TCACCACCACCACCATCACCATCACCACCACCACCACCAGCAGCACTACC ACTACCACCACCATCATGGTCACCACCATCATTACCACTACCACCACGAC TACCACCACCACCACCACTACCACCACCACCACCACCACCACCATCACCA CCACCACCATCACCACCACCACCACTACTGCCACCGCCGCCACCATCACC ACCACCACCATCACCACCATCACCACCACCACCATCACCACCATCACCAC CA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYT1L_chr2_1784113_2336275	2035289	C C	CACAATCT others(523): Show CACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTC CCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTT CTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAA CTTCTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCC TAACTTCTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGC TCCTAACTTCTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAG AGCTCCTAACTTCTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAA GAGAGCTCCTAACTTCTCCCCAACAATCTCCACCCTCCAATGCGGGTGCA GAAGAGAGCTCCTAACTTCTCCCCAACAATCTCCACCCTCCAATGCGGGT GCAGAAGAGAGCTCCTAACTTCTCCCCAACAATCTCCACCCTCCAATGCG GGTGCAGAAGAGAGCTCCTAACTTCTCCCCA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0017 a0001c0003t0002g0017	1	104	0.0096	530	c.-15 others(551): Show c.-158+18688_-158+18689insTGGGGAGAAGTTAGGAGCTCTCTT CTGCACCCGCATTGGAGGGTGGAGATTGTTGGGGAGAAGTTAGGAGCTCT CTTCTGCACCCGCATTGGAGGGTGGAGATTGTTGGGGAGAAGTTAGGAGC TCTCTTCTGCACCCGCATTGGAGGGTGGAGATTGTTGGGGAGAAGTTAGG AGCTCTCTTCTGCACCCGCATTGGAGGGTGGAGATTGTTGGGGAGAAGTT AGGAGCTCTCTTCTGCACCCGCATTGGAGGGTGGAGATTGTTGGGGAGAA GTTAGGAGCTCTCTTCTGCACCCGCATTGGAGGGTGGAGATTGTTGGGGA GAAGTTAGGAGCTCTCTTCTGCACCCGCATTGGAGGGTGGAGATTGTTGG GGAGAAGTTAGGAGCTCTCTTCTGCACCCGCATTGGAGGGTGGAGATTGT TGGGGAGAAGTTAGGAGCTCTCTTCTGCACCCGCATTGGAGGGTGGAGAT TGTTGGGGAGAAGTTAGGAGCTCTCTTCTGCACCCGCATTGGAGGGTGGA GATTGT	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	4/24			chr2	TogoVar
NCAPG2_chr7_158626169_158709804	158667532	C C	CTACTGGG others(523): Show CTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGC CTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCC TCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTA CTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCC TTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTC CGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTG GGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTAC CCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGC CCTCCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGG TCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCA CTACTGGGTCCCTCCGCCCTCCTTACCCACT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0286 a0001c0001t0001g0286	1	378	0.0027	530	c.148 others(549): Show c.1480-2783_1480-2782insAGTGGGTAAGGAGGGCGGAGGGACCC AGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGG AGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAG GGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGT AGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAG GGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGA GGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTG GGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGA CCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGG GCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGG GTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCC AGTA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NFILZ_chr19_8625633_8686151	8678099	A A	ATCCGTTC others(523): Show ATCCGTTCTTCCATCCACCCATTCATTAGTTTATCCATCCTCACCCATCC ACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCATCCACTTGT CCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCTTCCATCC ATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCTATCCATCCACCCTTCCATCCATTCATCCACTTGTCCATCCATCC ATCCATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCCAT CCAGCCGTCCATCTGTCCCGTCCGTCCGTCCATCCGTCCGTCCATCCATC CATCCATCCATCCATCCATCCATCCATCCATTCTTCCATCCATCCATCCA TTCAGCCATCCATCCATCCATCCATCCATTCCATCCATCCATCCGTCCAT TCTTCCATCCATCCATTCATTAGTTTATCCATCCTCATCCATCCATCCAT CCATCCATCCATCCATCCATTCATCCACTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0064 a0006c0006t0064	a0006c0006t0064g0064 a0006c0006t0064g0064	1	366	0.0027	530	c.46 others(539): Show c.467_*468insGTTCTTCCATCCACCCATTCATTAGTTTATCCATCC TCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTC ATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCTTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCTATCCATCCACCCTTCCATCCATTCATCCACTTGT CCATCCATCCATCCATCCATCCATCCATCCATTTGTCCATCCATCCATCC ACCTATCCATCCAGCCGTCCATCTGTCCCGTCCGTCCGTCCATCCGTCCG TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATTCTTCCATC CATCCATCCATTCAGCCATCCATCCATCCATCCATCCATTCCATCCATCC ATCCGTCCATTCTTCCATCCATCCATTCATTAGTTTATCCATCCTCATCC ATCCATCCATCCATCCATCCATCCATCCATTCATCCACTTGTCC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	468	INFO_REALIGN_3_PRIME	chr19	TogoVar
NHLRC4_chr16_562005_574495	571108	T T	TGTGTGTG others(523): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTG TGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTG TGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTG TGTGTGTGTGTCTGGCTATCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTG TGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGG TGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGC TAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGT GTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTG TGTGTGTGTGTGTCTGGCTAGCCTGGCACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	530	c.26 others(541): Show c.2689_*2690insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTC TGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTC TGGCTAGCCTGTGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGT GTGTGTGTATGTGTGTGTGTGTGTGTCTGGCTATCCTGGCGCCCGTGGCT AGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTC CCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAG CCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGG GCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCG TGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGC GCCCGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCC	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1614		chr16	TogoVar
NME4_chr16_392199_405754	397716	G G	GTGAGGGA others(523): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGTGGGGGGGC	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0148 a0001c0002t0001g0148	1	356	0.0028	530	c.91+ others(543): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGTGGGGGGGCTGAGGGAGTCGGGGGGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NT5DC3_chr12_103767310_103846234	103768606	G G	GGAGGGAG others(523): Show GGAGGGAGGGGGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTAGGGG GAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGAGAGGGACAGGGAC AGGGAGAGGGAGAGAGAGGGAGGGAGAGGGAGAGGGAGAGGGACAGGGAG AGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGGAGAGGG AGGGGAGGGGGAGAGGGGGGAGAGAGAGGGAGGGGGGCGGGAGGGGAGGG AGGGGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGAGAGGGAGGG AGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGAGGGAGGGAG AGGGAGGGAGGGGGGAGGGAGAGAGATGGGGGAGGGGGAGGGAGAGGGAT GGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGACAGGGGGAGGGAGAAGG AGAGGGAGAGGGGGAGGGAGAGGGAGAGAGAGGGAGAGGGAGAGAGAGGG AAAGGGAGTGAGAGAGAGAGGGAGAGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0020 a0001c0003t0020	a0001c0003t0020g0122 a0001c0003t0020g0122	1	386	0.0026	530	c.92 others(541): Show c.9222_*9223insTCCCTCTCTCCCTCTCTCTCTCACTCCCTTTCCC TCTCTCTCCCTCTCCCTCTCTCTCCCTCTCCCTCCCCCTCTCCCTCTCCT TCTCCCTCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCTCCCCCATC CCTCTCCCTCCCCCTCCCCCATCTCTCTCCCTCCCCCCTCCCTCCCTCTC CCTCCCTCTCCCTCTCCCTCTCCCTCCCTCTCCCTCCCTCTCCCTCTCCC TCCCTCTCTCCCTCTCCCTCCCTCTCCCTGTCCCTCTCCCTCCCCCTCCC TCCCCTCCCGCCCCCCTCCCTCTCTCTCCCCCCTCTCCCCCTCCCCTCCC TCTCCCCCCTCCCCTCCCTCTCCCTCTCTCCCTCCCTCTCTCTCCCTCTC CCTGTCCCTCTCCCTCTCCCTCTCCCTCCCTCTCTCTCCCTCTCCCTGTC CCTGTCCCTCTCCTCCCCCCTCCCCCTCCCTCTCTGTCCCCCCTCTCCCC CTACCCCTCCCTCTCCCTCCCTCCCTGTCCCCCCTCCCCCTCCCTC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3703		chr12	TogoVar
NT5DC3_chr12_103767310_103846234	103768606	G G	GGAGGGAG others(523): Show GGAGGGAGGGGGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTAGGGG GAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGAGAGGGACAGGGAC AGGGAGAGGGAGAGAGAGGGAGGGAGAGGGAGAGGGAGAGGGACAGGGAG AGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGGAGAGGG AGGGGAGGGGGAGAGGGGGGGAGAGAGAGGGAGGGGGCGGGAGGGGAGGG AGGGGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGAGAGGGAGGG AGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGAGGGAGGGAG AGGGAGGGAGGGGGGAGGGAGAGAGATGGGGGAGGGGGAGGGAGAGGGAT GGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGACAGGGGGAGGGAGAAGG AGAGGGAGAGGGGGAGGGAGAGGGAGAGAGAGGGAGAGGGAGAGAGAGGG AAAGGGAGTGAGAGAGAGAGGGAGAGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0062 a0001c0003t0062	a0001c0003t0062g0142 a0001c0003t0062g0142	1	386	0.0026	530	c.92 others(541): Show c.9222_*9223insTCCCTCTCTCCCTCTCTCTCTCACTCCCTTTCCC TCTCTCTCCCTCTCCCTCTCTCTCCCTCTCCCTCCCCCTCTCCCTCTCCT TCTCCCTCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCTCCCCCATC CCTCTCCCTCCCCCTCCCCCATCTCTCTCCCTCCCCCCTCCCTCCCTCTC CCTCCCTCTCCCTCTCCCTCTCCCTCCCTCTCCCTCCCTCTCCCTCTCCC TCCCTCTCTCCCTCTCCCTCCCTCTCCCTGTCCCTCTCCCTCCCCCTCCC TCCCCTCCCGCCCCCTCCCTCTCTCTCCCCCCCTCTCCCCCTCCCCTCCC TCTCCCCCCTCCCCTCCCTCTCCCTCTCTCCCTCCCTCTCTCTCCCTCTC CCTGTCCCTCTCCCTCTCCCTCTCCCTCCCTCTCTCTCCCTCTCCCTGTC CCTGTCCCTCTCCTCCCCCCTCCCCCTCCCTCTCTGTCCCCCCTCTCCCC CTACCCCTCCCTCTCCCTCCCTCCCTGTCCCCCCTCCCCCTCCCTC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3703		chr12	TogoVar
NXN_chr17_794310_984776	949577	T T	TCCCCCTG others(523): Show TCCCCCTGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTC CTCCTCTCCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCC GGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCGGCCTCCTCCTC TCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTC CTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCC CTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCT CTCCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGC CTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCC CCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTC CTCTCCCCCCTGCCTCCTCCTCTCCCCGCTGCCTCCTCCTCTCCCCGCGG GCTCCTCCTCTCCCCCCTGCCTCCTCCTCTC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	242	0.0041	530	c.360 others(549): Show c.360+29741_360+29742insGAGAGGAGGAGGCAGGGGGGAGAGGA GGAGCCCGCGGGGAGAGGAGGAGGCAGCGGGGAGAGGAGGAGGCAGGGGG GAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGG CAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGAGAGG AGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGG GGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGA GGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGAG AGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGG GGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGG AGGCCGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGGAG AGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCAG GGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
ODAD3_chr19_11415605_11440121	11424997	G G	GTATATAT others(523): Show GTATATATGTATATATGTGTATATATACCTATGTGTATATATGTATATAT GTGTATATATACCTATGTGTATATATGTATATATGTGTATATATACCTAT GTGTATATATGTATATATGTGTATATATACCTATGTGTATATATACATAT GTGTATATATACCTATGTGTATATATGTATATATGTGTATATATACCTAT GTGTATATATGTATATATGTGTATATATACCTATGTGTATATATGTATAT ATGTGTATATATACCTATGTGTATATATGTATATATGTGTATATATACCT ATGTGTATATATACATATGTGTATATATACCTATGTGTATATATACATAT GTGTATATATACCTATGTGTATATATACATATGTGTATATATACCTATGT GTATATATACCTATGTGTATATATACCTATGTGTATATATACATATGTGT ATATATACCTATGTGTATATATACATATGTGTATATATACCTATGTGTAT ATGTATATATGTGTATATATACCTATGCGTA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	398	0.0025	530	c.964 others(545): Show c.964-969_964-968insTACGCATAGGTATATATACACATATATACA TATACACATAGGTATATATACACATATGTATATATACACATAGGTATATA TACACATATGTATATATACACATAGGTATATATACACATAGGTATATATA CACATAGGTATATATACACATATGTATATATACACATAGGTATATATACA CATATGTATATATACACATAGGTATATATACACATATGTATATATACACA TAGGTATATATACACATATATACATATATACACATAGGTATATATACACA TATATACATATATACACATAGGTATATATACACATATATACATATATACA CATAGGTATATATACACATATATACATATATACACATAGGTATATATACA CATATGTATATATACACATAGGTATATATACACATATATACATATATACA CATAGGTATATATACACATATATACATATATACACATAGGTATATATACA CATATATACATATATACACATAGGTATATATACACATATATACATATATA	ODAD3	ENSG00000198003.12	transcript	ENST00000356392.9	protein_coding	7/12			chr19	TogoVar
OPCML_chr11_132409981_133537501	133437685	C C	CCCTCTCA others(523): Show CCCTCTCAACCCCGCTCACCTCTCCCCTCTCAACCCCGCTCACCTCTCCC CTCTCAACCCCGCTGACCTCTCCCCTTTGCAACCCCTCTCACCTCTCCCC TCTCAACCCCTCTCACCTCTCCCCTCTCAACCCCGCTCACCTCTCCCCTC TGCAACCCCTCTCACCTCTCCCCTCAACCCCGCTCACCTCTCCCCTCTGC AACCCCTCTCACCTCTCCCCTCTCAACCCCTCTCACCTCTCCCCTCTCAA CCCCTCTCACGTCTCCCCTCTCAACCCCTCTCACCTCTCCCCTCTAAACC CCGCTCACCTCTCCCCTCTGCAACCCCGCTCACCTCTCCCCTCTCAACCC CGCTCACCTCTCCCCTCTCAACCCCGCTCACCTCTCCCCTCTCAACCCCG CTCACCTCTCCCCTTTGCAACCCCTCTCACCTCTCCCCTCTCAACCCCTC TCACCTCTCCCCTCAACCCCGCTCACCTCTCCCCTCTGCAACCCCTCTCA CCTCTCCCCTCTCAACCCCTCTCACCTCTCA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0004 a0001c0001t0008g0004	1	68	0.0147	530	c.61+ others(547): Show c.61+94578_61+94579insTGAGAGGTGAGAGGGGTTGAGAGGGGAG AGGTGAGAGGGGTTGCAGAGGGGAGAGGTGAGCGGGGTTGAGGGGAGAGG TGAGAGGGGTTGAGAGGGGAGAGGTGAGAGGGGTTGCAAAGGGGAGAGGT GAGCGGGGTTGAGAGGGGAGAGGTGAGCGGGGTTGAGAGGGGAGAGGTGA GCGGGGTTGAGAGGGGAGAGGTGAGCGGGGTTGCAGAGGGGAGAGGTGAG CGGGGTTTAGAGGGGAGAGGTGAGAGGGGTTGAGAGGGGAGACGTGAGAG GGGTTGAGAGGGGAGAGGTGAGAGGGGTTGAGAGGGGAGAGGTGAGAGGG GTTGCAGAGGGGAGAGGTGAGCGGGGTTGAGGGGAGAGGTGAGAGGGGTT GCAGAGGGGAGAGGTGAGCGGGGTTGAGAGGGGAGAGGTGAGAGGGGTTG AGAGGGGAGAGGTGAGAGGGGTTGCAAAGGGGAGAGGTCAGCGGGGTTGA GAGGGGAGAGGTGAGCGGGGTTGAGAGGGGAGAGGTGAGCGGGGTTGAGA GG	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OR2T1_chr1_248398048_248413020	248408466	C C	CGCATTTG others(523): Show CGCATTTGACTGTAGATAGTGGCAGATGGTCACGGGAGTTTAGCTTGGGC TAGCGCATTTGACTGTAGATAGTGGCAGATGGTCACGGGAGTTTAGCTTG GGCTAGCGCATTTGACTGTAGATAGTGGCAGATGGTCACGGGAGTTTAGC TTGGGCTAGAGCATTTGACTGTAGATAGTGGCAGATGGTCACGGGAGTTT AGCTTGGGCTAGCGCATTTGACTGTAGATAGTGGCAGATGGTCACGGGAG TTTAGCTTGGGCTAGCGCATTTGACTGTAGATAGTGGCAGATGGTCACGG GAGTTTAGCTTGGGCTAGAGCATTTGACTGTAGATAGTGGCAGATGGTCA CGGGAGTTTAGCTTGGGCTAGAGCATTTGACTGTAGATAGTGGCAGATGG TCACGGGAGTTTAGCTTGGGCTAGCGCATTTGACTGTAGATAGTGGCAGA TGGTCACGGGAGTTTAGCTTGGGCTAGCGCATTTGACTGTAGATAGTGGC AGATGGTCACGGGAGTTTAGCTTGGGCTAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0078 a0003c0003t0005g0078	1	266	0.0038	530	c.13 others(541): Show c.1362_*1363insGCATTTGACTGTAGATAGTGGCAGATGGTCACGG GAGTTTAGCTTGGGCTAGCGCATTTGACTGTAGATAGTGGCAGATGGTCA CGGGAGTTTAGCTTGGGCTAGCGCATTTGACTGTAGATAGTGGCAGATGG TCACGGGAGTTTAGCTTGGGCTAGAGCATTTGACTGTAGATAGTGGCAGA TGGTCACGGGAGTTTAGCTTGGGCTAGCGCATTTGACTGTAGATAGTGGC AGATGGTCACGGGAGTTTAGCTTGGGCTAGCGCATTTGACTGTAGATAGT GGCAGATGGTCACGGGAGTTTAGCTTGGGCTAGAGCATTTGACTGTAGAT AGTGGCAGATGGTCACGGGAGTTTAGCTTGGGCTAGAGCATTTGACTGTA GATAGTGGCAGATGGTCACGGGAGTTTAGCTTGGGCTAGCGCATTTGACT GTAGATAGTGGCAGATGGTCACGGGAGTTTAGCTTGGGCTAGCGCATTTG ACTGTAGATAGTGGCAGATGGTCACGGGAGTTTAGCTTGGGCTAGA	OR2T1	ENSG00000175143.5	transcript	ENST00000642005.1	protein_coding		447		chr1	TogoVar
OR2T1_chr1_248398048_248413020	248408637	T T	TAGATAGC others(523): Show TAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGCTAGAGCATTTGA CTGTAGATAGCGGCAGATGGTCCCGGGAGTTTAGCTCGGGCTAGGGCATT TGACTGCAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGCTAGCGC ATTTGACTGTAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGCTAG AGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGC TAGAGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCG GGCTAGAGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAGTTTAGC TCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAGTTT AGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAG TTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGATGGTCACGG GAGTTTAGCTCGGGCTAGAGCATTTGACTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0156 a0001c0001t0006g0156	1	266	0.0038	530	c.15 others(541): Show c.1533_*1534insAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCG GGCTAGAGCATTTGACTGTAGATAGCGGCAGATGGTCCCGGGAGTTTAGC TCGGGCTAGGGCATTTGACTGCAGATAGCGGCAGATGGTCACGGGAGTTT AGCTCGGGCTAGCGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAG TTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGATGGTCACGG GAGTTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGATGGTCA CGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGATGG TCACGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGA TGGTCACGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGC AGATGGTCACGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGC GGCAGATGGTCACGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGC	OR2T1	ENSG00000175143.5	transcript	ENST00000642005.1	protein_coding		618		chr1	TogoVar
OR2T1_chr1_248398048_248413020	248408743	T T	TAGATAGC others(523): Show TAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGCTAGAGCATTTGA CTGTAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGCTAGAGCATT TGACTGCAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGCTAGAGC ATTTGACTGCAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGCTAG AGCATTTGACTGCAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGC TAGAGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCG GGCTAGAGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAGTTTAGC TCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAGTTT AGCTCGGGCTAGCGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAG TTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGATGGTCACGG GAGTTTAGCTCGGGCTAGAGCATTTGACTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0102 a0002c0002t0002g0102	1	266	0.0038	530	c.16 others(541): Show c.1639_*1640insAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCG GGCTAGAGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAGTTTAGC TCGGGCTAGAGCATTTGACTGCAGATAGCGGCAGATGGTCACGGGAGTTT AGCTCGGGCTAGAGCATTTGACTGCAGATAGCGGCAGATGGTCACGGGAG TTTAGCTCGGGCTAGAGCATTTGACTGCAGATAGCGGCAGATGGTCACGG GAGTTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGATGGTCA CGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGATGG TCACGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGA TGGTCACGGGAGTTTAGCTCGGGCTAGCGCATTTGACTGTAGATAGCGGC AGATGGTCACGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGC GGCAGATGGTCACGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGC	OR2T1	ENSG00000175143.5	transcript	ENST00000642005.1	protein_coding		724		chr1	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(523): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATAACATATATGTATT ACATATATGTATTACATATATAACATATATGTATTACATATATGTATTAC ATATATAACATATATGTATTACATATATAACATATATGTATTACATATAT GTATTACATATATAACATATATGTATTACATATATGTATTACATATATAA CATATATGTATTACATATATGTATTACATATATAACATATATGTATTACA TATATGTATTACATATATAACATATATGTATTACATATATGTATTACATA TATAACATATATGTATTACATATATGTATTACATATATAACATATATGTA TTACATATATGTATTACATATATAACATATATGTATTACATATATGTAAT ACATATATAACATATATGTATTACATATATGTAATACATATATAACATAT ATGTATTACATATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	400	0.0025	530	c.70 others(541): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TAACATATATGTATTACATATATGTATTACATATATAACATATATGTATT ACATATATGTATTACATATATAACATATATGTATTACATATATAACATAT ATGTATTACATATATGTATTACATATATAACATATATGTATTACATATAT GTATTACATATATAACATATATGTATTACATATATGTATTACATATATAA CATATATGTATTACATATATGTATTACATATATAACATATATGTATTACA TATATGTATTACATATATAACATATATGTATTACATATATGTATTACATA TATAACATATATGTATTACATATATGTATTACATATATAACATATATGTA TTACATATATGTAATACATATATAACATATATGTATTACATATATGTAAT ACATATATAACATATATGTATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PDE1C_chr7_31746179_32075407	31886826	T T	TTTCAGAA others(523): Show TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCT TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCGGATCTTTTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTTTTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTGTTCAGAATAGATCT ATTCGGATCTGTTCAGAATAGATCTATTCGGATCTGTTCAGAATAGATCT ATTCAGAATAGATCTATTCGGATCTGTTCAGAATAGATCTATTCAGAATA GATCTATTCGGATCTGTTCAGAATAGATCTATTCAGAATAGATCTATTCG GATCTGTTCAGAATAGATCTATTCGGATCTG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0019 a0001c0005t0003g0020 a0001c0005t0003g0019 a0001c0005t0003g0020	2	262	0.0076	530	c.129 others(547): Show c.129-5967_129-5966insCAGATCCGAATAGATCTATTCTGAACAG ATCCGAATAGATCTATTCTGAATAGATCTATTCTGAACAGATCCGAATAG ATCTATTCTGAATAGATCTATTCTGAACAGATCCGAATAGATCTATTCTG AATAGATCTATTCTGAACAGATCCGAATAGATCTATTCTGAACAGATCCG AATAGATCTATTCTGAACAGATCCGAATAGATCTATTCTGAATAGATCCG AATAGATCTATTCTGAAAAGATCCGAATAGATCTATTCTGAATAGATCCG AATAGATCTATTCTGAAAAGATCCGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(523): Show TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCT TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCGGATCTTTTCAGAATAGATCT ATTCGGATCTTTTCAGAATAGATCTATTCGGATCTTTTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTA	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0001 a0003c0016t0001	a0003c0016t0001g0188 a0003c0016t0001g0188	1	262	0.0038	530	c.129 others(547): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCCG AATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCG AATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCG AATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCG AATAGATCTATTCTGAAAAGATCCGAATAGATCTATTCTGAAAAGATCCG AATAGATCTATTCTGAAAAGATCCGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(523): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTATTCGGAATA GATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATAGATCT ATTCGGAATAGATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCA GAATAGATCTTTTCGGATCTTTTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCAGAATAGATCTATTCGGATCT ATTCAGAATAGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03669.hp2 HG03017.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0035 a0001c0001t0002g0253 a0001c0001t0001g0035 a0001c0001t0002g0253	2	262	0.0076	530	c.129 others(547): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCTATTCTG AATAGATCCGAATAGATCTATTCTGAATAGATCTATTCTGAATAGATCCG AATAGATCTATTCTGAATAGATCTATTCTGAATAGATCCGAATAGATCTA TTCTGAATAGATCCGAATAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAGATCTATTCCG AATAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAG ATCTATTCCGAATAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTG AA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(523): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCT TTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATAGATCTATTCG GAATAGATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATA GATCTTTTCGGATCTTTTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0200 a0001c0001t0002g0200	1	262	0.0038	530	c.129 others(547): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAAAAGATCCGAAAAG ATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAGATCTA TTCCGAATAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTG AAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTG AA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(523): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCT TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTATTCGGAATA GATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATAGATCT ATTCGGAATAGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02145.hp1 HG02572.hp1 others(2): Show HG01109.hp2 HG02145.hp1 HG02572.hp1 HG03195.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0061 a0001c0001t0001g0198 a0001c0001t0004g0121 others(2): Show a0001c0001t0001g0061 a0001c0001t0001g0198 a0001c0001t0004g0121 a0001c0001t0005g0119 a0001c0001t0006g0080	5	262	0.0191	530	c.129 others(547): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCTATTCCG AATAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAG ATCTATTCCGAATAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTG AAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTG AA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PERM1_chr1_970198_987093	976811	C C	CAACCCCG others(523): Show CAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTC CCACTCCCCCGACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCC CGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTC CCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAA CCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCG CAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCT CCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAAC CCCGGGAACCGCCTCCCACTCCCCCCACCAACCCGGGAACCGCCTCCCAC TCCCCCCACCAACCCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGGAA CCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCG CAACCCCGGGAACCGCCTCCCACTCCCCCCG	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	408	0.0025	530	c.215 others(547): Show c.2150-188_2150-187insCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGG CGGTTCCCGGGGTTGGTGGCGGGGGCAGGCGGTTCCCGGGGTTGGTGGGG GGAGTGGGAGGCGGTTCCCGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCC GGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGT GGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGG CGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGG GGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTC CCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTCGGGGGAG TGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGG TT	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PFKP_chr10_3062548_3141802	3085316	T T	TCCAGCAC others(523): Show TCCAGCACAGTCCCCCACTCCACTCTCCAGCACAGTCCCCCAAACCCTCC CCAGCACAGTCCCCCAACCCCTCCCCAGCACAGTCCCCCAACCCCTCCCC AGCACAGTCCCCCAACCCCTCCCCAGCACAGTCCCCCAACCCCTCCCCAG CAGTCCCCCACTCCACTCTCCAGCACAGTCCCCCACTCCCTCCCCAGCAC AGTCCCCCACTCCCTCCCCAGCACAGTCCCCCACCCCTTCCCCAGCACAG TCCCCCACCCCTTCCCCAGCACAGTCCCCCACCCCTTCCCCAGCACAGTC CCCCACCCCTTCCCCAGCACAGTCCCCCACCCCTTCCCCAGCACAGTCCC CCACCCCTTCCCCAGCACAGTCCCCCACCCCTTCCCCAGCACAGTCCCCC ACTCCACTCTCCAGCACAGTCCCCCACTCCACTCTCCAGCACAGTCCCCC AAACCCTCCCCAGCACAGTCCCCCACCCCCTCCCCAGCACAGTCCCCCAC CCCCTCCCCAGCACAGTCCCCCACCCCCTCC	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0068 a0001c0068	a0001c0068t0006 a0001c0068t0006	a0001c0068t0006g0346 a0001c0068t0006g0346	1	402	0.0025	530	c.186 others(547): Show c.186+2896_186+2897insAACCCTCCCCAGCACAGTCCCCCAACCC CTCCCCAGCACAGTCCCCCAACCCCTCCCCAGCACAGTCCCCCAACCCCT CCCCAGCACAGTCCCCCAACCCCTCCCCAGCAGTCCCCCACTCCACTCTC CAGCACAGTCCCCCACTCCCTCCCCAGCACAGTCCCCCACTCCCTCCCCA GCACAGTCCCCCACCCCTTCCCCAGCACAGTCCCCCACCCCTTCCCCAGC ACAGTCCCCCACCCCTTCCCCAGCACAGTCCCCCACCCCTTCCCCAGCAC AGTCCCCCACCCCTTCCCCAGCACAGTCCCCCACCCCTTCCCCAGCACAG TCCCCCACCCCTTCCCCAGCACAGTCCCCCACTCCACTCTCCAGCACAGT CCCCCACTCCACTCTCCAGCACAGTCCCCCAAACCCTCCCCAGCACAGTC CCCCACCCCCTCCCCAGCACAGTCCCCCACCCCCTCCCCAGCACAGTCCC CCACCCCCTCCCCAGCACAGTCCCCCACTCCACTCTCCAGCACAGTCCCC CA	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PIGQ_chr16_564968_589109	571108	T T	TGTGTGTG others(523): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTG TGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTG TGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTG TGTGTGTGTGTCTGGCTATCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTG TGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGG TGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGC TAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGT GTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTG TGTGTGTGTGTGTCTGGCTAGCCTGGCACCC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0251 a0002c0001t0001g0251	1	408	0.0025	530	c.-10 others(547): Show c.-10+1012_-10+1013insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTG TGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTG TGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGC CCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTCTGGCTATCCTGGCGCCC GTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCC TGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCT GGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGG GGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGG CTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAG CCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCAC CC	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10			chr16	TogoVar
PLEKHG4B_chr5_87168_194966	101509	C C	CCTGTAGG others(523): Show CCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGGAA AAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGG AAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCC TGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATATAAAA CCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATA AAGCTCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCAT ATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTAAATC CATATAAAGCTCTGGAGAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTTA ATCCATATAAAGCTCTGGAGAAAGTCTGTAGGGGAGAGACTGTTGTGAGG TAAATCCATATAAAGCTCTGGAGAAAGTCTGTAGGGGAGAGACTGTTGTG AGGTTAATCCATATAAAGCTCTGGAGAAAGT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0006 a0006	a0006c0070 a0006c0070	a0006c0070t0054 a0006c0070t0054	a0006c0070t0054g0207 a0006c0070t0054g0207	1	210	0.0048	530	c.45+ others(545): Show c.45+9274_45+9275insCCTGGGAAAAGCCTGTAGGGGAGAGACTGT TGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGAC TGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGA GACTGTTGTGAGGTAAATCCATATAAAACCCTGGAAAAAGTCTGTAGGGG AGAGACTGTTGTGAGGTTAATCCATATAAAGCTCTGGAAAAAGTCTGTAG GGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTG TAGGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGCTCTGGAGAAAGT CTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCTCTGGAGAA AGTCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGCTCTGGA GAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCTCT GGAGAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHN1_chr1_961482_980865	976811	C C	CAACCCCG others(523): Show CAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTC CCACTCCCCCGACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCC CGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTC CCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAA CCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCG CAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCT CCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAAC CCCGGGAACCGCCTCCCACTCCCCCCACCAACCCGGGAACCGCCTCCCAC TCCCCCCACCAACCCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGGAA CCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCG CAACCCCGGGAACCGCCTCCCACTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	530	c.22 others(541): Show c.2236_*2237insAACCCCGGGAACCGCCTCCCACTCCCCCCGCAAC CCCGGGAACCGCCTCCCACTCCCCCGACCAACCCCGGGAACCGCCTCCCA CTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGG AACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCC CCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGC CTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAA CCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCC ACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCG GGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTGCCCCCGC CACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGC CTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		947		chr1	TogoVar
PLXNB2_chr22_50269979_50312646	50274865	C C	CTCCCAAC others(523): Show CTCCCAACCCCCCACCTCCCCCCAGCACCCCTCCCAACCCCCCACCTCCC CCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCCAGCACCCCTCCCAGC CCCCTCCACCTCCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCCA GCACCCCTCCCAGCCCCCTCCACCTCCCCCCAGCACCCCTCCCAGCCCCC TCCACCTCCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCAGCACC CCTCCAGCCCCCTCCACCTCCCCCAGTACCCCTCCCAGCCCCTTCCACCT CCCCCAGCACCCCTCCCAACCCCCCACCTCCCCCCAGCACCCCTCCCAGC CCCCTCCACCTCCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCAG CACCCCTCCCAGCCCCCTCCACCTCCCCCAGCACCACCCCCAGCCCCCTC CACCTCCCCCAGCATCCCTCCCAGCCCCCTCCACCTTTCCCAGCACCCTT CCCAGCCCCCTCCACCTCCCCACAGCTCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0008 a0008	a0008c0036 a0008c0036	a0008c0036t0003 a0008c0036t0003	a0008c0036t0003g0039 a0008c0036t0003g0039	1	302	0.0033	530	c.83 others(539): Show c.838_*839insTGGGAGCTGTGGGGAGGTGGAGGGGGCTGGGAAGGG TGCTGGGAAAGGTGGAGGGGGCTGGGAGGGATGCTGGGGGAGGTGGAGGG GGCTGGGGGTGGTGCTGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGG GGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGGAGGTGGAGGGGGCTGG GAGGGGTGCTGGGGGGAGGTGGGGGGTTGGGAGGGGTGCTGGGGGAGGTG GAAGGGGCTGGGAGGGGTACTGGGGGAGGTGGAGGGGGCTGGAGGGGTGC TGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGGAGGTGGAGGGGG CTGGGAGGGGTGCTGGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGG GGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGGAGGTGGAGGGGGCTGG GAGGGGTGCTGGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGGAG GTGGGGGGTTGGGAGGGGTGCTGGGGGGAGGTGGGGGGTTGGGA	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding		113		chr22	TogoVar
PRKCZ_chr1_2045411_2190395	2106627	C C	CTTCAGCA others(523): Show CTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGC CAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCATGCGTG TCACCAGGCCAGGTGACTCTTCAGCAAGCCCCTCTGGTGGGCGAGGACCT CCACGTGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGC GAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCT CCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAG CAGGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTA ACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAG GCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCACACG TGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGAC CTCCATGCGTGTCACCAGGCCAGGTGACTCT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03492.hp2 HG02698.hp2 HG03492.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0008 a0001c0003 a0002c0008	a0001c0003t0001 a0002c0008t0001 a0001c0003t0001 a0002c0008t0001	a0001c0003t0001g0141 a0002c0008t0001g0282 a0001c0003t0001g0141 a0002c0008t0001g0282	2	286	0.0070	530	c.335 others(549): Show c.335-28634_335-28633insTCAGCAGGCCCCTCCGGTGGGCGAGG ACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGG TGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTGACTCTTCAGCAAG CCCCTCTGGTGGGCGAGGACCTCCACGTGTGTCACCAGGCCAGGTAACTC TCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCA GGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTC ACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCC ATGCGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGA GGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCC GGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCA GGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTGAC TCTT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2106627	C C	CTTCAGCA others(523): Show CTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGC CAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCATGCGTG TCACCAGGCCAGGTGACTCTTCAGCAAGCCCCTCTGGTGGGCGAGGACCT CCACGTGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGC GAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCT CCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAG CAGGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTG ACTCTTCAGCAAGCCCCTCTGGTGGGCGAGGACCTCCACGTGTGTCACCA GGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCACACG TGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGAC CTCCATGCGTGTCACCAGGCCAGGTGACTCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0274 a0001c0003t0001g0274	1	286	0.0035	530	c.335 others(549): Show c.335-28634_335-28633insTCAGCAGGCCCCTCCGGTGGGCGAGG ACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGG TGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTGACTCTTCAGCAAG CCCCTCTGGTGGGCGAGGACCTCCACGTGTGTCACCAGGCCAGGTAACTC TCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCA GGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTC ACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCC ATGCGTGTCACCAGGCCAGGTGACTCTTCAGCAAGCCCCTCTGGTGGGCG AGGACCTCCACGTGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCC GGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCA GGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTGAC TCTT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PWWP2B_chr10_132392200_132422859	132392521	A A	AATGGTGA others(523): Show AATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGA TGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGGTG GTGGTAATGGTGATGGTGATGATGGTGATGTGATAATGGTGATGGTGATG GTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGATGATGGT GGTGGTGGTGATGATGGTGATGGTGGTGGTGGTGATAATGGTGATGGTGA TGATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTG GTGGTAATGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGT GATGGTGATGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGA TGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTG ATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGTGATGGTGGTGGT AATGGTGATGGTGATGATGGTGATGGTGATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0021 a0001c0009t0001g0021	1	374	0.0027	530	c.-47 others(541): Show c.-4706_-4705insATGGTGATGGTGATGGTAGTGGTGATGGGGGTGG TGGTAATGGTGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATG GTGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGTGATA ATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGT GATGGTGATGATGGTGGTGGTGGTGATGATGGTGATGGTGGTGGTGGTGA TAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTA GTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGATGATGGTGGT GGTGGTGATAATGGTGATGGTGATGGTGGTGGTAATGGTGATGGTGATGA TGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTG GTAATGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGAT GGTGATGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATG	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4678		chr10	TogoVar
RAP1GAP2_chr17_2791438_3042741	2831059	C C	CTCCCCTC others(523): Show CTCCCCTCCCCCTTCCCTCCCTTTCCCTCCCCTCCTTCCCCTCCCCTTCC CTCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCT CTCCCCTCCCTCCCCTCCCCTTCCTTCCCCTCCCCTCCTCCCCCCTCCCT CCCCTCTCCTTCCTTCCCCTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCT CCCTTCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCTCTCCCCT CCCTCCCCTCCCCTTTTCTCCCTTCCCCTCCCATCCCCTACACTTCCCTC CCCTCCCCTTCCCTACACTTCCGTCCCCTCCCCTTCCCTACACTTCCCTT CCCTCCCCTCCCCTCCCTTTCCCTCCTCTTCCCTCCCCTCCCTTCCCGTC CCCTTCCCTCCCTTCCCCTCCCCCACCCTCCCTTCCCCTCCCTTCTTCTC TCCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTCCCCTCCC TTTCCCTCCCCTCCCCTCCCCTCCCTTCCCA	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0072 a0002c0003t0072	a0002c0003t0072g0021 a0002c0003t0072g0021	1	218	0.0046	530	c.80+ others(547): Show c.80+30515_80+30516insCCCCCTTCCCTCCCTTTCCCTCCCCTCC TTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCC TTCCCCTCCCCTCCTCTCCCCTCCCTCCCCTCCCCTTCCTTCCCCTCCCC TCCTCCCCCCTCCCTCCCCTCTCCTTCCTTCCCCTCCCCTCCCCTTCCCT CCCTTTCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCTTCCCCT CCCCTCCTCTCCCCTCCCTCCCCTCCCCTTTTCTCCCTTCCCCTCCCATC CCCTACACTTCCCTCCCCTCCCCTTCCCTACACTTCCGTCCCCTCCCCTT CCCTACACTTCCCTTCCCTCCCCTCCCCTCCCTTTCCCTCCTCTTCCCTC CCCTCCCTTCCCGTCCCCTTCCCTCCCTTCCCCTCCCCCACCCTCCCTTC CCCTCCCTTCTTCTCTCCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCC CTCCCCTCCCCTCCCTTTCCCTCCCCTCCCCTCCCCTCCCTTCCCATCCC CT	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RFC1_chr4_39282456_39371362	39348422	C C	CAGAAAAG others(523): Show CAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	276	0.0036	530	c.132 others(547): Show c.132+2925_132+2926insTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
RSRC1_chr3_158105089_158550730	158228874	A A	AACACACA others(523): Show AACACACATACGTGTATATATGTATATAAACACACATACGTGTATGTTTA TATAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTATA TGTGTATATAAACACACATACGTGTATATGTGTATATAAACACATACGTG TATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACACA TACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAA CACACATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTA TATAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTATA TGTGTATATAAACACACATACGTGTATATGTGTATATAAACACACATACG TGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACA CATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATA AACACACATACGTGTATATGTGTATATAAAC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	276	0.0036	530	c.494 others(549): Show c.494+25634_494+25635insCATACGTGTATATATGTATATAAACA CACATACGTGTATGTTTATATAAACACACATACGTGTATATGTGTATATA AACACACATACGTGTATATGTGTATATAAACACACATACGTGTATATGTG TATATAAACACATACGTGTATATGTGTATATAAACACACATACGTGTATA TGTGTATATAAACACACATACGTGTATATGTGTATATAAACACACATACG TGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACA CATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATA AACACACATACGTGTATATGTGTATATAAACACACATACGTGTATATGTG TATATAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTA TATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACACATA CGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACA CACA	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
SAMD11_chr1_918923_949574	934937	G G	GGGCGGCT others(523): Show GGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGG CAGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTAC AGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTC CGTTACAGGTGGGCAGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGG CTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGG GGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGG CAGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACA GGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGC GTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCAGGGGGGGC GGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTCCGTTACAGGTGGGCAGG GGAGGCGGCTGCGTTACAGGTGGGCAGGGGA	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0252 a0002c0003t0004g0252	1	434	0.0023	530	c.843 others(545): Show c.843-810_843-809insGGAGGCGGCTGCGTTACAGGTGGGCAGGGG GAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGG GCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTAC AGGTGGGCAGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGT TACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGG CTGCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCAGGGG AGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGG CGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACA GGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCAGGGGGGGCGGCTGC GTTACAGGTGGGCAGGGGAGGCGGCTCCGTTACAGGTGGGCAGGGGAGGC GGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLAIN1_chr13_77692687_77769229	77704206	A A	ATACATAT others(523): Show ATACATATGTTTTATATGTATATATACATAGAAAATATATATACATGTTT TATATGTATATATATACATAGAAAATATATATACATGTTTTATATGTATA TATATACATAGAAAATATATATACATGTTTTATATGTATATATATACATA GAAAATATATATACATATGTTTTATATGTATATATATACATAGAAAATAT ATATACATATGTTTTATATGTATATATATACATAGAAAATATATATACAT ATGTTTTATATGTATATATATACATAGAAAATATATGTACATATGTTTTA TATGTATATATATACATAGAAAATATATGTACATATGTTTTATATGTATA TATATACATAGAAAATATATGTACATATGTTTTCTATGTATATATATACA TAGAAAATATATGTACATATGTTTTCTATGTATATATACATAGAAAATAT ATGTACATATGTTTTATATGTATATATACATAGAAAATATATATACATGT TTTATATGTATATATACATAGAAAATATATG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	300	0.0033	530	c.626 others(547): Show c.626+5706_626+5707insATACATGTTTTATATGTATATATATACA TAGAAAATATATATACATGTTTTATATGTATATATATACATAGAAAATAT ATATACATGTTTTATATGTATATATATACATAGAAAATATATATACATAT GTTTTATATGTATATATATACATAGAAAATATATATACATATGTTTTATA TGTATATATATACATAGAAAATATATATACATATGTTTTATATGTATATA TATACATAGAAAATATATGTACATATGTTTTATATGTATATATATACATA GAAAATATATGTACATATGTTTTATATGTATATATATACATAGAAAATAT ATGTACATATGTTTTCTATGTATATATATACATAGAAAATATATGTACAT ATGTTTTCTATGTATATATACATAGAAAATATATGTACATATGTTTTATA TGTATATATACATAGAAAATATATATACATGTTTTATATGTATATATACA TAGAAAATATATGTACATATGTTTTATATGTATATATACATAGAAAATAT AT	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLAIN1_chr13_77692687_77769229	77704211	T T	TATGTTTT others(523): Show TATGTTTTATATGTATATATACATAGAAAATATATATACATGTTTTATAT GTATATATATACATAGAAAATATATATACATGTTTTATATGTATATATAT ACATAGAAAATATATATACATGTTTTATATGTATATATATACATAGAAAA TATATATACATATGTTTTATATGTATATATATACATAGAAAATATATATA CATATGTTTTATATGTATATATATACATAGAAAATATATATACATATGTT TTATATGTATATATATACATAGAAAATATATGTACATATGTTTTATATGT ATATATATACATAGAAAATATATGTACATATGTTTTATATGTATATATAT ACATAGAAAATATATGTACATATGTTTTATATGTATATATATACATAGAA AATATATGTACATATGTTTTCTATGTATATATACATAGAAAATATATGTA CATATGTTTTATATGTATATATACATAGAAAATATATGTACATATGTTTT ATATGTATATATACATAGAAAATATATATAC	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	300	0.0033	530	c.626 others(547): Show c.626+5706_626+5707insATACATGTTTTATATGTATATATATACA TAGAAAATATATATACATGTTTTATATGTATATATATACATAGAAAATAT ATATACATGTTTTATATGTATATATATACATAGAAAATATATATACATAT GTTTTATATGTATATATATACATAGAAAATATATATACATATGTTTTATA TGTATATATATACATAGAAAATATATATACATATGTTTTATATGTATATA TATACATAGAAAATATATGTACATATGTTTTATATGTATATATATACATA GAAAATATATGTACATATGTTTTATATGTATATATATACATAGAAAATAT ATGTACATATGTTTTATATGTATATATATACATAGAAAATATATGTACAT ATGTTTTCTATGTATATATACATAGAAAATATATGTACATATGTTTTATA TGTATATATACATAGAAAATATATGTACATATGTTTTATATGTATATATA CATAGAAAATATATATACATGTTTTATATGTATATATACATAGAAAATAT AT	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLAIN1_chr13_77692687_77769229	77704211	T T	TATGTTTT others(523): Show TATGTTTTATATGTATATATATACATAGAAAATATATATACATATGTTTT ATATGTATATATACATAGAAAATATATATACATGTTTTATATGTATATAT ATACATAGAAAATATATATACATGTTTTATATGTATATATATACATAGAA AATATATATACATGTTTTATATGTATATATATACATAGAAAATATATATA CATATGTTTTATATGTATATATATACATAGAAAATATATATACATATGTT TTATATGTATATATATACATAGAAAATATATATACATATGTTTTATATGT ATATATATACATAGAAAATATATGTACATATGTTTTATATGTATATATAT ACATAGAAAATATATGTACATATGTTTTATATGTATATATATACATAGAA AATATATGTACATATGTTTTATATGTATATATACATAGAAAATATATGTA CATATGTTTTATATGTATATATACATAGAAAATATATGTACATATGTTTT ATATGTATATATACATAGAAAATATATATAC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01952.hp2 HG04228.hp2 HG01433.hp2 HG01952.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258	3	300	0.0100	530	c.626 others(547): Show c.626+5692_626+5693insTACATAGAAAATATATATACATATGTTT TATATGTATATATACATAGAAAATATATATACATGTTTTATATGTATATA TATACATAGAAAATATATATACATGTTTTATATGTATATATATACATAGA AAATATATATACATGTTTTATATGTATATATATACATAGAAAATATATAT ACATATGTTTTATATGTATATATATACATAGAAAATATATATACATATGT TTTATATGTATATATATACATAGAAAATATATATACATATGTTTTATATG TATATATATACATAGAAAATATATGTACATATGTTTTATATGTATATATA TACATAGAAAATATATGTACATATGTTTTATATGTATATATATACATAGA AAATATATGTACATATGTTTTATATGTATATATACATAGAAAATATATGT ACATATGTTTTATATGTATATATACATAGAAAATATATGTACATATGTTT TATATGTATATATACATAGAAAATATATATACATGTTTTATATGTATATA TA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLAIN1_chr13_77692687_77769229	77704211	T T	TATGTTTT others(523): Show TATGTTTTATATGTATATATATACATAGAAAATATATATACATATGTTTT ATATGTATATATACATAGAAAATATATATACATGTTTTATATGTATATAT ATACATAGAAAATATATATACATGTTTTATATGTATATATATACATAGAA AATATATATACATGTTTTATATGTATATATATACATAGAAAATATATATA CATATGTTTTATATGTATATATATACATAGAAAATATATATACATATGTT TTATATGTATATATATACATAGAAAATATATATACATATGTTTTATATGT ATATATATACATAGAAAATATATGTACATATGTTTTATATGTATATATAT ACATAGAAAATATATGTACATATGTTTTATATGTATATATATACATAGAA AATATATGTACATATGTTTTCTATGTATATATACATAGAAAATATATGTA CATATGTTTTATATGTATATATACATAGAAAATATATGTACATATGTTTT ATATGTATATATACATAGAAAATATATATAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02809.hp2 HG03704.hp1 others(2): Show HG02257.hp2 HG02809.hp2 HG03704.hp1 NA19010.hp1 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0219 a0001c0001t0001g0267 others(1): Show a0001c0001t0001g0014 a0001c0001t0001g0219 a0001c0001t0001g0267 a0001c0001t0001g0275	5	300	0.0167	530	c.626 others(547): Show c.626+5692_626+5693insTACATAGAAAATATATATACATATGTTT TATATGTATATATACATAGAAAATATATATACATGTTTTATATGTATATA TATACATAGAAAATATATATACATGTTTTATATGTATATATATACATAGA AAATATATATACATGTTTTATATGTATATATATACATAGAAAATATATAT ACATATGTTTTATATGTATATATATACATAGAAAATATATATACATATGT TTTATATGTATATATATACATAGAAAATATATATACATATGTTTTATATG TATATATATACATAGAAAATATATGTACATATGTTTTATATGTATATATA TACATAGAAAATATATGTACATATGTTTTATATGTATATATATACATAGA AAATATATGTACATATGTTTTCTATGTATATATACATAGAAAATATATGT ACATATGTTTTATATGTATATATACATAGAAAATATATGTACATATGTTT TATATGTATATATACATAGAAAATATATATACATGTTTTATATGTATATA TA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLAIN1_chr13_77692687_77769229	77704211	T T	TATGTTTT others(523): Show TATGTTTTATATGTATATATATACATAGAAAATATATATACATATGTTTT ATATGTATATATACATAGAAAATATATATACATGTTTTATATGTATATAT ATACATAGAAAATATATATACATGTTTTATATGTATATATATACATAGAA AATATATATACATGTTTTATATGTATATATATACATAGAAAATATATATA CATATGTTTTATATGTATATATATACATAGAAAATATATATACATATGTT TTATATGTATATATATACATAGAAAATATATATACATATGTTTTATATGT ATATATATACATAGAAAATATATGTACATATGTTTTATATGTATATATAT ACATAGAAAATATATGTACATATGTTTTATATGTATATATATACATAGAA AATATATGTACATATGTTTTCTATGTATATATACATAGAAAATATATGTA CATATGTTTTCTATGTATATATACATAGAAAATATATGTACATATGTTTT CTATGTATATATACATAGAAAATATATATAC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	300	0.0033	530	c.626 others(547): Show c.626+5692_626+5693insTACATAGAAAATATATATACATATGTTT TATATGTATATATACATAGAAAATATATATACATGTTTTATATGTATATA TATACATAGAAAATATATATACATGTTTTATATGTATATATATACATAGA AAATATATATACATGTTTTATATGTATATATATACATAGAAAATATATAT ACATATGTTTTATATGTATATATATACATAGAAAATATATATACATATGT TTTATATGTATATATATACATAGAAAATATATATACATATGTTTTATATG TATATATATACATAGAAAATATATGTACATATGTTTTATATGTATATATA TACATAGAAAATATATGTACATATGTTTTATATGTATATATATACATAGA AAATATATGTACATATGTTTTCTATGTATATATACATAGAAAATATATGT ACATATGTTTTCTATGTATATATACATAGAAAATATATGTACATATGTTT TCTATGTATATATACATAGAAAATATATATACATGTTTTATATGTATATA TA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLAIN1_chr13_77692687_77769229	77704211	T T	TATGTTTT others(523): Show TATGTTTTATATGTATATATATACATAGAAAATATATATACATATGTTTT ATATGTATATATACATAGAAAATATATATACATGTTTTATATGTATATAT ATACATAGAAAATATATATACATGTTTTATATGTATATATATACATAGAA AATATATATACATGTTTTATATGTATATATATACATAGAAAATATATATA CATATGTTTTATATGTATATATATACATAGAAAATATATATACATATGTT TTATATGTATATATATACATAGAAAATATATATACATATGTTTTATATGT ATATATATACATAGAAAATATATGTACATATGTTTTATATGTATATATAT ACATAGAAAATATATGTACATATGTTTTCTATGTATATATATACATAGAA AATATATGTACATATGTTTTCTATGTATATATACATAGAAAATATATGTA CATATGTTTTATATGTATATATACATAGAAAATATATGTACATATGTTTT ATATGTATATATACATAGAAAATATATATAC	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	300	0.0033	530	c.626 others(547): Show c.626+5692_626+5693insTACATAGAAAATATATATACATATGTTT TATATGTATATATACATAGAAAATATATATACATGTTTTATATGTATATA TATACATAGAAAATATATATACATGTTTTATATGTATATATATACATAGA AAATATATATACATGTTTTATATGTATATATATACATAGAAAATATATAT ACATATGTTTTATATGTATATATATACATAGAAAATATATATACATATGT TTTATATGTATATATATACATAGAAAATATATATACATATGTTTTATATG TATATATATACATAGAAAATATATGTACATATGTTTTATATGTATATATA TACATAGAAAATATATGTACATATGTTTTCTATGTATATATATACATAGA AAATATATGTACATATGTTTTCTATGTATATATACATAGAAAATATATGT ACATATGTTTTATATGTATATATACATAGAAAATATATGTACATATGTTT TATATGTATATATACATAGAAAATATATATACATGTTTTATATGTATATA TA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar

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Search Results (Total: 10000 hits)