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
HPCAL1_chr2_10297904_10432604	10399225	A A	ACCACCGC others(506): Show ACCACCGCCGCTGCCGCTACCACCATCACCACCACCACCACCACCACCAC CATCACCACCATCACCACCACCATCACCACCACCACCATCACCACCACCA TCACCACCACCATCACCACCACCACCATCACCACCGCCACCACCACCATC ATCACCACCACCACCACCACCATCACCATCATCACCACCACCACCACCAT CACCACCACCATCATCACCACCATCACCACCACCACCACCACCACCACCA CCACCATCACCACCACCATCACCACCACCACCACCACCATCATCACCACC ATCACCACCACCATCACCACCACCACCACCACCATCACCACCACCATCAC CACCACCACCATCACCACCACCATCACCACCACCATCACCACCACCACCA CCACCATCACCACCATCACCACCGCCACCACCATCATCACCACCATCACC ACCGCCACCACCACCACCACCACCACCATCACCACCACCATCACCACCAC CACCATCACCACCG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	314	0.0032	513	c.-25 others(530): Show c.-25+2310_-25+2311insGCCGCTGCCGCTACCACCATCACCACCA CCACCACCACCACCACCATCACCACCATCACCACCACCATCACCACCACC ACCATCACCACCACCATCACCACCACCATCACCACCACCACCATCACCAC CGCCACCACCACCATCATCACCACCACCACCACCACCATCACCATCATCA CCACCACCACCACCATCACCACCACCATCATCACCACCATCACCACCACC ACCACCACCACCACCACCACCATCACCACCACCATCACCACCACCACCAC CACCATCATCACCACCATCACCACCACCATCACCACCACCACCACCACCA TCACCACCACCATCACCACCACCACCATCACCACCACCATCACCACCACC ATCACCACCACCACCACCACCATCACCACCATCACCACCGCCACCACCAT CATCACCACCATCACCACCGCCACCACCACCACCACCACCACCATCACCA CCACCATCACCACCACCACCATCACCACCGCCACC	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HPCAL1_chr2_10297904_10432604	10399544	T T	TCACCACC others(506): Show TCACCACCACCACCATCACCATCACCACCACCACCACCACCACCACCACC ACCATCACCACCACCACCACCACCATCACCACCACCACCACCATCGCCAC CGCCACCACCACCACCATCACCACCACCACCATCACCATCATCACCACCA CCACCACCACCATCACCACCACCATCACCATCACCACCACCATCACCACC GCCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCAC CACCACCATCACCACCACCATCATCACCACCATCACCACCACCATCATCA CCACCATCACCACCGCCACCACCACCACCATCACCACCACCACCACCACC ACCATCACCACCACCACCACCATCACCACCACCATCATCACCACCATCAC CACCACCATCATCACCACCATCATCACCACCATCACCACCACCATCACCA CCATCACCATCATCACCACCATCACCGCCACCATCACCATCACCACCACC ACCGCCACCACCAC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0313 a0001c0001t0001g0313	1	314	0.0032	513	c.-25 others(530): Show c.-25+2628_-25+2629insACCACCACCATCACCATCACCACCACCA CCACCACCACCACCACCACCATCACCACCACCACCACCACCATCACCACC ACCACCACCATCGCCACCGCCACCACCACCACCATCACCACCACCACCAT CACCATCATCACCACCACCACCACCACCATCACCACCACCATCACCATCA CCACCACCATCACCACCGCCACCACCACCACCATCACCACCACCACCACC ACCACCATCACCACCACCACCACCATCACCACCACCATCATCACCACCAT CACCACCACCATCATCACCACCATCACCACCGCCACCACCACCACCATCA CCACCACCACCACCACCACCATCACCACCACCACCACCATCACCACCACC ATCATCACCACCATCACCACCACCATCATCACCACCATCATCACCACCAT CACCACCACCATCACCACCATCACCATCATCACCACCATCACCGCCACCA TCACCATCACCACCACCACCGCCACCACCACCACC	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GGGGCAGG others(506): Show GGGGCAGGGAGGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGC AGGGAGGAGGGGCAGGGAGGAGGGGGGCAGGGAGGAGGGACAGGGAGGAG AGAGGGGCAGGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGG CAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAG GGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGA GGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGA GAGAGGGGCAGGGAGGACGGGCAGGGAGGACGGGCAGGGAGGAGAGAGGG GCAGGGAGGACGGGCAGGGAGGAGAGGGGCAGGGAGGACGGGCAGGGAGG AGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCA GGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAAGG AGGAGGGGCAGGGA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0127 a0002c0002t0001g0127	1	204	0.0049	513	c.978 others(530): Show c.978-2481_978-2480insGCAGGGAGGAGAGGGGCAGGGAGGAGGG GCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGGGCAGG GAGGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGAGGAGA GACAGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAG GGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGG CAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAG GAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAC GGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGAGGGGCA GGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGA CGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAG GGAGGAGAGAGGGGCAAGGAGGAGGGGCAGGGAGG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124471437	T T	TTTATATA others(506): Show TTTATATATATTTATATATATTTTATATATATTTATATATATATAAATTT TTTTTATATTTATATATTTTTTATATATTTATATATATACTACATATATT TTTATATTTTATATATATTTATATATTTTATATATTTATATATTTTTTAT ATATTTATATATTTATATATATATTTATATATATTTATGTATATTTATAT ATATATTTATATATATTTATGTATATTTATATATATTTATATATTTATGT ATATATTTATATATATTTATATATTTATGTATATATTTATATATATTTAT ATATTTATGTATATATATATATTTATATGTATTTATATATATTTATATGT ATTTATATATATTTATATATTTATATGTATTTATACATATATATTTATAT GTATTTATATATATTTATATATATTTTTTATGTATTTATATATATTTATA TATATATTTATATATATTTATATATATATTTATATATATTTATATATATT TATATATATATTTA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	260	0.0039	513	c.125 others(530): Show c.125+9451_125+9452insTATATATATTTATATATATTTTATATAT ATTTATATATATATAAATTTTTTTTATATTTATATATTTTTTATATATTT ATATATATACTACATATATTTTTATATTTTATATATATTTATATATTTTA TATATTTATATATTTTTTATATATTTATATATTTATATATATATTTATAT ATATTTATGTATATTTATATATATATTTATATATATTTATGTATATTTAT ATATATTTATATATTTATGTATATATTTATATATATTTATATATTTATGT ATATATTTATATATATTTATATATTTATGTATATATATATATTTATATGT ATTTATATATATTTATATGTATTTATATATATTTATATATTTATATGTAT TTATACATATATATTTATATGTATTTATATATATTTATATATATTTTTTA TGTATTTATATATATTTATATATATATTTATATATATTTATATATATATT TATATATATTTATATATATTTATATATATATTTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124507796	G G	GTGGGGGG others(506): Show GTGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTG GGGGGGTAGGGAGTATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTG GAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGG AGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGGATTTCAGGTGTGGA GGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAG GGTAGACAGGATTTCAGGTGGGGGGATAGGGAGGATTTCAGGTGTGGAGG GTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGGGGGG TAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGT AGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTA GACAGGATTTCAGGTGGGGGGATAGGGAGGATTTCAGGTGTGGAGGGTAG ACAGGATTTCAGGT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0183 a0001c0001t0001g0187	2	260	0.0077	513	c.625 others(530): Show c.625-9384_625-9383insTGGGGGGTAGACAGGATTTCAGGTGGGG GGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGTATTTCAGGTGGGGGG GTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGG TAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGAT AGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTA GGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAG GGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGG GAGGATTTCAGGTCGGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGG AGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGA GGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAG GATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6			chr10	TogoVar
LHPP_chr10_124456823_124619141	124507824	G G	GGGGGTAG others(506): Show GGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGG AGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGTATTTCAGGTGGGGG GGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGG GTAGGGAGTATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGG TAGACAGGATTTCAGGTGGGGGGGTAGGGAGTATTTCAGGTGGGGGGGTA GGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAG GGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGG GAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGG AGGATTTCAGGTCGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGA GGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAG GATTTCAGGTCGGT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	260	0.0039	513	c.625 others(530): Show c.625-9356_625-9355insGGGGTAGACAGGATTTCAGGTGGGGGGG TAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGT AGGGAGTATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTA GACAGGATTTCAGGTGGGGGGGTAGGGAGTATTTCAGGTGGGGGGGTAGG GAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGG AGTATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACA GGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAG GATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGG ATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGGGGGGTAGGGAGGA TTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGAT TTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6			chr10	TogoVar
LRP5_chr11_68307591_68454275	68428943	A A	AAAAAAGC others(506): Show AAAAAAGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAG GCTGAGGCAGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAA CACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTATGGCCGGGCG CAGTGGCTCCCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGA ATTACAAGGTCAAGAGATCGAGACCATCTTGGCTAACACGGTGAAACCCC ATCAAGATCACAAGGTCAAGAGATGGAGACCATCCTGGCTAACACGGTGA AACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTAGCGGG CGCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAGGCGGAGCTTGCGGTGAGCCGAGATCGCTCCATGCCACTGCAC TCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02622.hp2 HG02630.hp2 HG02074.hp2 HG02622.hp2 HG02630.hp2	a0001 a0010 a0001 a0010	a0001c0005 a0010c0047 a0001c0005 a0010c0047	a0001c0005t0001 a0010c0047t0001 a0001c0005t0001 a0010c0047t0001	a0001c0005t0001g0001 a0001c0005t0001g0209 a0010c0047t0001g0199 a0001c0005t0001g0001 a0001c0005t0001g0209 a0010c0047t0001g0199	3	212	0.0142	513	c.363 others(530): Show c.3638-628_3638-627insAGCCAGGTGTGGTGGCTCACACCTGTAA TCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACGAGGTCAGGAGATT GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTATGGCCGGGCGCAGTGGCTCCCGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGTGGGTGAATTACAAGGTCAAGAGATCGAGACCATCTTGGC TAACACGGTGAAACCCCATCAAGATCACAAGGTCAAGAGATGGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCATGGTAGCGGGCGCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCGGTGAGCCGAGATC GCTCCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAA	LRP5	ENSG00000162337.12	transcript	ENST00000294304.12	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr11	TogoVar
LRP5_chr11_68307591_68454275	68428943	A A	AAAAAGCC others(506): Show AAAAAGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGG CTGAGGCAGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAAC ACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTATGGCCGGGCGC AGTGGCTCCCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGAA TTACAAGGTCAAGAGATCGAGACCATCTTGGCTAACACGGTGAAACCCCA TCAAGATCACAAGGTCAAGAGATGGAGACCATCCTGGCTAACACGGTGAA ACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTAGCGGGC GCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAGGCGGAGCTTGCGGTGAGCCGAGATCGCTCCATGCCACTGCACT CCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02723.hp2 HG03225.hp2 others(1): Show HG02071.hp2 HG02723.hp2 HG03225.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0009 a0001c0002 a0001c0009	a0001c0002t0001 a0001c0009t0001 a0001c0002t0001 a0001c0009t0001	a0001c0002t0001g0181 a0001c0002t0001g0204 a0001c0009t0001g0005 others(1): Show a0001c0002t0001g0181 a0001c0002t0001g0204 a0001c0009t0001g0005 a0001c0009t0001g0082	4	212	0.0189	513	c.363 others(530): Show c.3638-628_3638-627insGCCAGGTGTGGTGGCTCACACCTGTAAT CCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACGAGGTCAGGAGATTG AGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTATGGCCGGGCGCAGTGGCTCCCGCCTGTAATCCCAGCACTTTGGG AGGCCGAGGTGGGTGAATTACAAGGTCAAGAGATCGAGACCATCTTGGCT AACACGGTGAAACCCCATCAAGATCACAAGGTCAAGAGATGGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCATGGTAGCGGGCGCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCGGTGAGCCGAGATCG CTCCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAA	LRP5	ENSG00000162337.12	transcript	ENST00000294304.12	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr11	TogoVar
MAN2B2_chr4_6570189_6628362	6579325	C C	CCACCATC others(506): Show CCACCATCACCACCACCACCATCACCACCATCACCACCACCACCACCACC ACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCAT CACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCACCA CCATCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACC ACCATCACCACCACCACCACCACCACCATCACCACCACCACCACCACCAC CATCACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCA CCATCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACC ACCATCACCACCACCACCACCACCACCACCATCACCACCATCACCACCAC CACCATCACCACCACCACCACCACCACCACCATCACCACCATCACCACCA CCACCACCACCACCATCACCATCACCACCACCACCATCACCACCATCACC ACCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0250 a0002c0002t0001g0250	1	362	0.0028	513	c.391 others(528): Show c.391+832_391+833insTCACCACCACCACCATCACCACCATCACCA CCACCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACC ACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCACCAC CACCACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCA CCACCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACC ACCACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCAC CATCACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCA CCACCACCACCACCACCATCACCACCACCACCACCACCACCACCATCACC ACCATCACCACCACCACCATCACCACCACCACCACCACCACCACCATCAC CACCATCACCACCACCACCACCACCACCATCACCATCACCACCACCACCA TCACCACCATCACCACCACCACCACCATCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MCF2L2_chr3_183173041_183433619	183314931	T T	TTTGAGAC others(506): Show TTTGAGACAGAATTTCACTCTTGTTGCCCAGGCTGGAGTACAATGGTACG ATCTCAGCTCATTGCAACCTCCGCCTCCCAGGTTCAAGAGATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGGG TAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCGTGTTGGTCAGGCTG GTCTCAAACTCCCGACTTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGT GCTGGTATTACAGGTGTGAGCCACTGCACCTGGCCAGTATCTCTTTTTTT CTAATATAAACCATTTCTCTCTTTAAGCCATTTTTGGATGAGAAAGAGGA AATATATAACTCTAGTTTAATGATTTTGGTATTCTTGCTTCTAAGCTACA AGATAACGAACAAAGAAATCAGATTTGAATTAGGACAATAATCAGTAATC ACAAAAAGGCCTTAAGAAATTCTCTGTATTTTTTTGGTTTGTTTTTTGTT TGTTTGTTTGTTTG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0012 a0012	a0012c0011 a0012c0011	a0012c0011t0001 a0012c0011t0001	a0012c0011t0001g0088 a0012c0011t0001g0088	1	176	0.0057	513	c.753 others(530): Show c.753+3136_753+3137insCAAACAAACAAACAAACAAAAAACAAAC CAAAAAAATACAGAGAATTTCTTAAGGCCTTTTTGTGATTACTGATTATT GTCCTAATTCAAATCTGATTTCTTTGTTCGTTATCTTGTAGCTTAGAAGC AAGAATACCAAAATCATTAAACTAGAGTTATATATTTCCTCTTTCTCATC CAAAAATGGCTTAAAGAGAGAAATGGTTTATATTAGAAAAAAAGAGATAC TGGCCAGGTGCAGTGGCTCACACCTGTAATACCAGCACTTTGGGAGGCCA AGGCGGGTGGATCACCTGAAGTCGGGAGTTTGAGACCAGCCTGACCAACA CGGAGAAACCCCATCTCTACTAAAAATACAAAATTACCCGGACATGGTGG TGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCTCT TGAACCTGGGAGGCGGAGGTTGCAATGAGCTGAGATCGTACCATTGTACT CCAGCCTGGGCAACAAGAGTGAAATTCTGTCTCAA	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	7/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183314939	T T	TTTGAGAC others(506): Show TTTGAGACAGAATTTCACTCTTGTTGCCCAGGCTGGAGTACAATGGTACG ATCTCAGCTCATTGCAACCTCCGCCTCCCAGGTTCAAGAGATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGGG TAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCGTGTTGGTCAGGCTG GTCTCAAACTCCCGACTTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGT GCTGGTATTACAGGTGTGAGCCACTGCACCTGGCCAGTATCTCTTTTTTT CTAATATAAACCATTTCTCTCTTTAAGCCATTTTTGGATGAGAAAGAGGA AATATATAACTCTAGTTTAATGATTTTGGTATTCTTGCTTCTAAGCTACA AGATAACGAACAAAGAAATCAGATTTGAATTAGGACAATAATCAGTAATC ACAAAAAGGCCTTAAGAAATTCTCTGTATTTTTTTGGTTTGTTTTTTGTT TGTTTGTTTGTTTG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0021 a0004c0004t0021	a0004c0004t0021g0149 a0004c0004t0021g0149	1	176	0.0057	513	c.753 others(530): Show c.753+3128_753+3129insCAAACAAACAAACAAACAAAAAACAAAC CAAAAAAATACAGAGAATTTCTTAAGGCCTTTTTGTGATTACTGATTATT GTCCTAATTCAAATCTGATTTCTTTGTTCGTTATCTTGTAGCTTAGAAGC AAGAATACCAAAATCATTAAACTAGAGTTATATATTTCCTCTTTCTCATC CAAAAATGGCTTAAAGAGAGAAATGGTTTATATTAGAAAAAAAGAGATAC TGGCCAGGTGCAGTGGCTCACACCTGTAATACCAGCACTTTGGGAGGCCA AGGCGGGTGGATCACCTGAAGTCGGGAGTTTGAGACCAGCCTGACCAACA CGGAGAAACCCCATCTCTACTAAAAATACAAAATTACCCGGACATGGTGG TGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCTCT TGAACCTGGGAGGCGGAGGTTGCAATGAGCTGAGATCGTACCATTGTACT CCAGCCTGGGCAACAAGAGTGAAATTCTGTCTCAA	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	7/29			chr3	TogoVar
MICAL3_chr22_17782649_18029561	17876847	G G	GGGAAGTT others(506): Show GGGAAGTTATGGAGGTTATGGAGGTTATGGAGGTTATGGAGGTTAGGGAA GTTATGGAGGTTATGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTAT GGAGGTTAGAGAAGTTATGGAGGTTAGGGAGGTTATGGAGGTTATGGAGG TTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTATG GAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGAGAAGT TATGGAGGTTAGGGAGGTTACGGAGGTTATGGAGGTTAGGGAAGTTATGG AGGTTATGGAGGTTATGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTT ATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTATGGAGGTTAGGGA GGTTAGGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTA GAGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTTACGGAGGTTATGGAG GTTAGGGAAGTTAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0036 a0002c0006t0001g0036	1	274	0.0037	513	c.224 others(532): Show c.2242-4825_2242-4824insATAACTTCCCTAACCTCCATAACCTC CGTAACCTCCCTAACCTCCATAACCTCCATAACTTCTCTAACCTCCATAA CCTCCATAACTTCCCTAACCTCCCTAACCTCCCTAACCTCCCTAACCTCC ATAACCTCCATAACCTCCCTAACCTCCATAACCTCCATAACCTCCATAAC TTCCCTAACCTCCATAACCTCCATAACCTCCATAACCTCCATAACTTCCC TAACCTCCATAACCTCCGTAACCTCCCTAACCTCCATAACTTCTCTAACC TCCATAACCTCCATAACTTCCCTAACCTCCATAACCTCCATAACCTCCAT AACTTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACCT CCATAACCTCCCTAACCTCCATAACTTCTCTAACCTCCATAACCTCCATA ACTTCCCTAACCTCCATAACCTCCATAACCTCCATAACTTCCCTAACCTC CATAACCTCCATAACCTCCATAACCTCCATAACTTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877054	G G	GGGAGGTT others(506): Show GGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAG GTTAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAG GGAGGTTATGGAGGTGAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGG TTATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTAGGGAGGTTAGG GAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGT TAGGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTATGGCAGTTATGG AGGTGAGGGAGGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTT ATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTGAGGGAGGTTATGGA GGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTA GGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAG GTTAGGGAAGTTAT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0214 a0003c0004t0001g0214	1	274	0.0037	513	c.224 others(532): Show c.2242-5032_2242-5031insATAACTTCCCTAACCTCCATAACCTC CCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCATAA CCTCCCTAACCTCCCTAACCTCCCTAACCTCCATAACCTCCATAACCTCC CTCACCTCCATAACCTCCATAACTTCCCTAACCTCCATAACCTCCCTAAC CTCCATAATCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACTGCCA TAACCTCCATAACTTCCCTAACCTCCCTAACCTCCCTAACCTCCCTCACC TCCATAACCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCCT AACCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCT CCATAACCTCCCTAACCTCCCTCACCTCCATAACCTCCCTAACCTCCATA ACCTCCATAACTTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTC CCTCACCTCCCTAACCTCCCTAACCTCCATAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877243	G G	GGGAGGTT others(506): Show GGGAGGTTATGGAGGTGAGGGAGCTTATGGAGGTTAGGGAGGTTATGGAG GTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAT GGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAG TTATGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATG GAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGT TATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGG AAGTTATGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTT ATGGAGGTGAGGGAGGTTATGGAGGTTATGGCAGTTATGGAGGTTAGGGA GATTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGCTTATGGAGGTTA GGGAGGTTAAGGAGGTTAGGGAAGTTATGGAGGTTATGGCAGTTATGGAG GTTAGGGAGATTAT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0193 a0001c0001t0002g0193	1	274	0.0037	513	c.224 others(532): Show c.2242-5221_2242-5220insATAATCTCCCTAACCTCCATAACTGC CATAACCTCCATAACTTCCCTAACCTCCTTAACCTCCCTAACCTCCATAA GCTCCCTAACCTCCATAACCTCCCTAACCTCCATAATCTCCCTAACCTCC ATAACTGCCATAACCTCCATAACCTCCCTCACCTCCATAACCTCCCTAAC CTCCATAACCTCCCTCACCTCCATAACCTCCATAACTTCCCTAACCTCCA TAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACC TCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCCT AACCTCCATAACCTCCCTCACCTCCATAACCTCCATAACTTCCCTAACCT CCATAACCTCCCTAACCTCCATAATCTCCCTAACCTCCATAACCTCCCTA ACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTC CCTAACCTCCATAAGCTCCCTCACCTCCATAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MPG_chr16_73225_90846	81741	A A	ACGCTGAC others(506): Show ACGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAAT GCTCCCGGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCT CCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCAGG AAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTAT CTCCGGGAAGCCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACC ACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCACGCTGGCCCCTTCT TCCCACCACCCTACCTCCGGGAAGCCCTCCTGAATGCTCCCCACGCTGGC CCCTTCTTCCCACCACCCTACCTCCAGGAAGCCCTCCTGAATGCTCCCCG CGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATG CTCCCCACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTC CTGAATGCTCCCCG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03098.hp2 HG03041.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0258 a0001c0001t0001g0218 a0001c0001t0001g0258	2	442	0.0045	513	c.301 others(530): Show c.301-1310_301-1309insGCTGACCCCTTCTTCCCACCACCCTATC TCCGGGAAGGCCTCCTGAATGCTCCCGGCGCTGACCCCTTCTTCCCACCA CCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTT CCCACCACCCTACCTCCAGGAAGCCCTCCTGAATGCTCCCCGCGCTGACC CCTTCTTCCCACCACCCTATCTCCGGGAAGCCCTCCTGAATGCTCCCCAC GCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGC TCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCTCC TGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCAGGAA GCCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTATCT CCGGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACCAC CCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGC	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MPG_chr16_73225_90846	81911	C C	CGCGCTGA others(506): Show CGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGCCCTCCTGAA TGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCC TCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGG GAAGCCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTA CCTCCAGGAAGCCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCAC CACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTC TTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCACGCTGG CCCCTTCTTCCCACCACCCTACCTCCAGGAAGCCCTCCTGAATGCTCCCC ACACTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAAT GCTCCCCACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCT CCTGAATGCTCCCG	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	442	0.0023	513	c.301 others(530): Show c.301-1113_301-1112insTCTCCGGGAAGCCCTCCTGAATGCTCCC CACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAA TGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCC TCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCAG GAAGCCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACCACCCTA TCTCCGGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCAC CACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCACGCTGGCCCCTTC TTCCCACCACCCTACCTCCAGGAAGCCCTCCTGAATGCTCCCCACACTGA CCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCC ACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAAT GCTCCCGGCGCTGACCCCTTCTTCCCACCACCCTA	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MPG_chr16_73225_90846	82089	G G	GCCCCTTC others(506): Show GCCCCTTCTTCCCACCACCCTACCTCCAGGAAGCCCTCCTGAATGCTCCC CGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAA TGCTCCCCACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCC TCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGG GAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACCACCCTA CCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCAC CACCCTATCTCCGGGAAGCCCTCCTGAATGCTCCCCACGCTGGCCCCTTC TTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAATGCTCCCCACGCTGG CCCCTTCTTCCCACCACCCTATCTCCGGGAAGCCCTCCTGAATGCTCCCC GCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAAT GCTCCCCACACTGA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	442	0.0023	513	c.301 others(528): Show c.301-937_301-936insAGGAAGCCCTCCTGAATGCTCCCCGCGCTG ACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCC CACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAA TGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCC TCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACCACCCTACCTCCGG GAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTA TCTCCGGGAAGCCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCAC CACCCTACCTCCGGGAAGCCCTCCTGAATGCTCCCCACGCTGGCCCCTTC TTCCCACCACCCTATCTCCGGGAAGCCCTCCTGAATGCTCCCCGCGCTGA CCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCC ACACTGACCCCTTCTTCCCACCACCCTACCTCC	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MPG_chr16_73225_90846	82089	G G	GCCCCTTC others(506): Show GCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCC CACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAA TGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCC TCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGG GAAGCCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTA TCTCCGGGAAGCCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCAC CACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTC TTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGA CCCCTTCTTCCCACCAACCTACCTCCGGGAAGCCCTCCTGAATGCTCCCC GCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAAT GCTCCCCACACTGA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0030 a0001c0002t0001g0030	2	442	0.0045	513	c.301 others(528): Show c.301-931_301-930insGCCTCCTGAATGCTCCCCACGCTGGCCCCT TCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCT GACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCC CCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCTCCTGA ATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTATCTCCGGGAAGCC CTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCG GGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCT ACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCA CCAACCTACCTCCGGGAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTT CTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCACACTG ACCCCTTCTTCCCACCACCCTACCTCCGGGAAG	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MPG_chr16_73225_90846	82247	G G	GCTCCCCA others(506): Show GCTCCCCACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCT CCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGG AAGGCCTCCTGAATGCTCCCCACGCTGACCCCTTCTTCCCACCACCCTAT CTCCGGGAAGCCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACC ACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCT TCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCACGCTGGC CCCTTCTTCCCACCACCCTACCTCCAGGAAGCCCTCCTGAATGCTCCCCA CGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATG CTCCCCACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTC CTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGA AGGCCTCCTGAATA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	442	0.0023	513	c.301 others(528): Show c.301-799_301-798insACACTGACCCCTTCTTCCCACCACCCTACC TCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCA CCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCACGCTGACCCCTTCTT CCCACCACCCTATCTCCGGGAAGCCCTCCTGAATGCTCCCCACGCTGGCC CCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGC GCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGC TCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCAGGAAGCCCTCC TGAATGCTCCCCACGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAA GGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACCACCCTACCT CCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCAC CCTACCTCCGGGAAGGCCTCCTGAATACTCCCC	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MPG_chr16_73225_90846	82247	G G	GCTCCCCG others(506): Show GCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGCCCT CCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGG AAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACCACCCTAC CTCCGGGAAGCCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACC ACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCT TCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGAC CCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCG CGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATG CTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTC CTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGA AGGCCTCCTGAATA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01168.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	2	442	0.0045	513	c.301 others(528): Show c.301-799_301-798insGCGCTGACCCCTTCTTCCCACCACCCTATC TCCGGGAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCA CCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTT CCCACCACCCTACCTCCGGGAAGCCCTCCTGAATGCTCCCCACGCTGGCC CCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGC GCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGC TCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCC TGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAA GGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCT CCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCAC CCTACCTCCGGGAAGGCCTCCTGAATACTCCCC	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MYNN_chr3_169768396_169794716	169770602	A A	AATATAAA others(506): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAAT TTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAAATAA AAATTTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATATATCATATATAAAAATTTATA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATT TATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	1	350	0.0029	513	c.-28 others(524): Show c.-2892_-2891insATATAAATATATAAAAATTTATATTTATATATCA TAAATATATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTT ATATATCATAAATAAAAATTTATATTTATATATCATAAATAAAAATTTAT ATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAAT TTATATTTATATATCATATAAAAATTTATATTTATATATCATATATAAAA ATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATAT AAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCAT ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATATATCAT ATATAAAAATTTATATATATCATATATAAAAATTTATATTTATATATCAT ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATC	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2793		chr3	TogoVar
NFATC1_chr18_79390930_79534323	79505114	C C	CGTGGGAG others(506): Show CGTGGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAGAGAAGAGGCAGGAG ACTGCTGCGTGGGAGGAGGTGATGCTGGAGGCCCTTGGGTGATGGAAGAG GCAGGAGACTGCTGTGTGGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAG GGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGTGGATGAGACCCTT GGGTGATGGAAGAGGCAGGAGACTGCTGCGTGGGAGGAGGTGGTGCTGGA GGCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGG TGGATGAGACCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGTGTGGGAG GAGGTGGTGCTGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGT GTGGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAGA CTGCTGTGTGGGAGGAGGTGGTGGATGAGACCCTTGGGTGAGGGAAGAGG CAGGAGACTGCTGT	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0071 a0001c0001t0007g0071	1	322	0.0031	513	c.278 others(534): Show c.2782+18212_2782+18213insAGAAGAGGCAGGAGACTGCTGCGT GGGAGGAGGTGATGCTGGAGGCCCTTGGGTGATGGAAGAGGCAGGAGACT GCTGTGTGGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAGGGAAGAGGCA GGAGACTGCTGTGTGGGAGGAGGTGGTGGATGAGACCCTTGGGTGATGGA AGAGGCAGGAGACTGCTGCGTGGGAGGAGGTGGTGCTGGAGGCCCTTGGG TGAGGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGTGGATGAGAC CCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGTGC TGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAG GTGGTGCTGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGTGTG GGAGGAGGTGGTGGATGAGACCCTTGGGTGAGGGAAGAGGCAGGAGACTG CTGTGTGGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAG	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NKAIN2_chr6_123798865_124830640	124687570	T T	TTCCATAT others(506): Show TTCCATATATATACATACATGGTATATATTCCATATATACATACATGGTA TATATTCCTATATATACATACATGGTATATATTCCATATATATACATACA TGGTATATATTCCATATATATATATACATACATGGTATATATACATACAT GGTATATATTCCTATATATACATACATGGTATATATTCCATATATATATA CATACATGGTATATATTCCATATATATACATACATGGAATATATATATTC CATATATACATATATATATTCCATATATACACATATATATATTCCATATA TACACATATACATGGAATATATATCTGTATATATATGGAATATATATATA TGTATATATATGGAATATATATGTATATGTATTTATATTATGTATTTATA TTATAAATATATATTATGTATATATATTTATATTATAAATATATATTATG TATATATATTTATATTATAAATATATATTATGTATATATATTTATATTAT AAATATATATTATG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0058 a0001c0002t0013g0058	1	66	0.0152	513	c.474 others(532): Show c.474+29184_474+29185insTCCATATATATACATACATGGTATAT ATTCCATATATACATACATGGTATATATTCCTATATATACATACATGGTA TATATTCCATATATATACATACATGGTATATATTCCATATATATATATAC ATACATGGTATATATACATACATGGTATATATTCCTATATATACATACAT GGTATATATTCCATATATATATACATACATGGTATATATTCCATATATAT ACATACATGGAATATATATATTCCATATATACATATATATATTCCATATA TACACATATATATATTCCATATATACACATATACATGGAATATATATCTG TATATATATGGAATATATATATATGTATATATATGGAATATATATGTATA TGTATTTATATTATGTATTTATATTATAAATATATATTATGTATATATAT TTATATTATAAATATATATTATGTATATATATTTATATTATAAATATATA TTATGTATATATATTTATATTATAAATATATATTATG	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	4/6			chr6	TogoVar
NLRP8_chr19_55942832_55993629	55993533	C C	CCCCTCCC others(506): Show CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCCT CCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCC CCTCCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCC CTCCCCCTCCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0000 a0000	a0000c0004 a0000c0004	a0000c0004t0016 a0000c0004t0016	a0000c0004t0016g0223 a0000c0004t0016g0223	1	350	0.0029	513	c.56 others(524): Show c.5620_*5621insCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCTCCCCCCCTCCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCTCCCCTCCCCCCCTCCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCT CCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCT CCCCCTCCCCTCCCCCTCCCCCTCCCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4905		chr19	TogoVar
NME4_chr16_392199_405754	397716	G G	GTGAGGGA others(506): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGGGC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0200 a0001c0003t0001g0200	1	356	0.0028	513	c.91+ others(526): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GCTGAGGGAGTCGGGGGGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOTCH1_chr9_136489433_136551048	136535671	T T	TGGAGGGG others(506): Show TGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAGTGCAGGGTGG GTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGT GGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGG GTGGGTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCA GGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTG CAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTG CAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGG TGCAGGGTGGGTGG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp1 HG00609.hp1 others(7): Show HG00423.hp2 HG00597.hp1 HG00609.hp1 HG02074.hp1 HG02155.hp2 NA18964.hp1 NA18971.hp1 NA18995.hp1 NA19005.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0048 a0001c0001 a0001c0013 a0001c0048	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0013t0001 a0001c0048t0001	a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0003g0228 others(7): Show a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0003g0228 a0001c0001t0003g0232 a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0001t0004g0164 a0001c0001t0007g0227 a0001c0013t0001g0231 a0001c0048t0001g0233	10	324	0.0309	513	c.140 others(530): Show c.140+8352_140+8353insCCACCCACCCTGCACCCATTGCCCCTGG GAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCC CGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCC CCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCC CCTGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCC CCTGGGAGGGATCCTGAGTGCTCCCCCTCCACCCACCCTGCACCCATTGC CCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATT GCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACTCA TTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535719	G G	GGTGGAGG others(506): Show GGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGC AGGGTGGGTGGAGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGG TGCAGGGTGGGTGGAGGGGGGATCACTCAGGATCCCTCCCAGGGGCAATG GGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGG GGGCAATGGGTGCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAG GGGCAATGGGTGCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAG GGGCAATGGGTGCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAG GGGCAATGGGTGCA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0026 a0026	a0026c0070 a0026c0070	a0026c0070t0004 a0026c0070t0004	a0026c0070t0004g0171 a0026c0070t0004g0171	1	324	0.0031	513	c.140 others(530): Show c.140+8304_140+8305insTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCCGGGAGGGATCCT GAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCTGGGA GGGATCCTGAGTGATCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGG GAGGGATCCTGAGTGCTCCCCCCCTCCACCCACCCTGCACCCATTGCCCC TGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCC CCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCC CCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTG CCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535833	A A	AGGGGGGA others(506): Show AGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAGTGCAGGGTGGGTG GAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGG TGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGGTGG GTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGT GGGTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTTGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAG TGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCTGGGGCAATGG GTGCAGGGTGGGTG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0155 a0001c0004t0005g0155	1	324	0.0031	513	c.140 others(530): Show c.140+8190_140+8191insCACCCACCCTGCACCCATTGCCCCAGGA GGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCCGGG AGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTG CCCCTGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTG CCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTG CCCCTGGGAGGGATCCTGAGTGCTCCCCCCAACCCACCCTGCACCCATTG CCCCTGGGAGGGATCCTGAGTGCTCCCCCTCCACCCACCCTGCACCCATT GCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCA TTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCC ATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCAC TCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NPRL3_chr16_80386_143673	81741	A A	ACGCTGAC others(506): Show ACGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAAT GCTCCCGGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCT CCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCAGG AAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTAT CTCCGGGAAGCCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACC ACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCACGCTGGCCCCTTCT TCCCACCACCCTACCTCCGGGAAGCCCTCCTGAATGCTCCCCACGCTGGC CCCTTCTTCCCACCACCCTACCTCCAGGAAGCCCTCCTGAATGCTCCCCG CGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATG CTCCCCACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTC CTGAATGCTCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03098.hp2 HG03041.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0145 a0001c0001t0007g0146 a0001c0001t0007g0145 a0001c0001t0007g0146	2	350	0.0057	513	c.49 others(524): Show c.4963_*4964insCGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGG GTGGTGGGAAGAAGGGGTCAGTGTGGGGAGCATTCAGGAGGCCTTCCCGG AGATAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGGC TTCCTGGAGGTAGGGTGGTGGGAAGAAGGGGCCAGCGTGGGGAGCATTCA GGAGGGCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGCCAGCGTGGGGA GCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGCCAGC GTGGGGAGCATTCAGGAGGGCTTCCCGGAGATAGGGTGGTGGGAAGAAGG GGTCAGCGCGGGGAGCATTCAGGAGGGCTTCCTGGAGGTAGGGTGGTGGG AAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGCCTTCCCGGAGATAGGG TGGTGGGAAGAAGGGGTCAGCGCCGGGAGCATTCAGGAGGCCTTCCCGGA GATAGGGTGGTGGGAAGAAGGGGTCAGCG	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding		3644		chr16	TogoVar
NPRL3_chr16_80386_143673	81951	C C	CCCTCCTG others(506): Show CCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTC CGGGAAGGCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACC CTACCTCCGGGAAGCCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCC CACCACCCTACCTCCAGGAAGCCCTCCTGAATGCTCCCCGCGCTGACCCC TTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCACAC TGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTC CCCGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTG AATGCTCCCCACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGG CCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTATCTCC GGGAAGCCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACCACCC TATCTCCGGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	350	0.0029	513	c.47 others(524): Show c.4753_*4754insCCTTCCCGGAGATAGGGTGGTGGGAAGAAGGGGT CAGTGTGGGGAGCATTCAGGAGGGCTTCCCGGAGATAGGGTGGTGGGAAG AAGGGGTCAGCGCGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGTGG TGGGAAGAAGGGGTCAGTGTGGGGAGCATTCAGGAGGCCTTCCCGGAGAT AGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGCCTTCC CGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGTGTGGGGAGCATTCAGGAG GCCTTCCCGGAGATAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCAT TCAGGAGGGCTTCCTGGAGGTAGGGTGGTGGGAAGAAGGGGCCAGCGTGG GGAGCATTCAGGAGGGCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGCC AGCGTGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGA AGGGGCCAGCGTGGGGAGCATTCAGGAGG	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding		3434		chr16	TogoVar
NPRL3_chr16_80386_143673	82089	G G	GCCCCTTC others(506): Show GCCCCTTCTTCCCACCACCCTACCTCCAGGAAGCCCTCCTGAATGCTCCC CGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAA TGCTCCCCACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCC TCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGG GAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACCACCCTA CCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCAC CACCCTATCTCCGGGAAGCCCTCCTGAATGCTCCCCACGCTGGCCCCTTC TTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAATGCTCCCCACGCTGG CCCCTTCTTCCCACCACCCTATCTCCGGGAAGCCCTCCTGAATGCTCCCC GCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAAT GCTCCCCACACTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	350	0.0029	513	c.46 others(524): Show c.4615_*4616insTCAGTGTGGGGAGCATTCAGGAGGCCTTCCCGGA GATAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGGCT TCCCGGAGATAGGGTGGTGGGAAGAAGGGGCCAGCGTGGGGAGCATTCAG GAGGGCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGCCAGCGTGGGGAG CATTCAGGAGGGCTTCCCGGAGATAGGGTGGTGGGAAGAAGGGGTCAGCG CGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGG GTCAGTGTGGGGAGCATTCAGGAGGCCTTCCCGGAGATAGGGTGGTGGGA AGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGT GGTGGGAAGAAGGGGTCAGTGTGGGGAGCATTCAGGAGGCCTTCCCGGAG ATAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGGCTT CCTGGAGGTAGGGTGGTGGGAAGAAGGGG	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding		3296		chr16	TogoVar
NPRL3_chr16_80386_143673	82089	G G	GCCCCTTC others(506): Show GCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCC CACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAA TGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCC TCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGG GAAGCCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTA TCTCCGGGAAGCCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCAC CACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTC TTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGA CCCCTTCTTCCCACCAACCTACCTCCGGGAAGCCCTCCTGAATGCTCCCC GCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAAT GCTCCCCACACTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01069.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0278 a0001c0001t0001g0279	2	350	0.0057	513	c.46 others(524): Show c.4615_*4616insTCAGTGTGGGGAGCATTCAGGAGGCCTTCCCGGA GATAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGGCT TCCCGGAGGTAGGTTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAG GAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAG CATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGCCAGCG TGGGGAGCATTCAGGAGGGCTTCCCGGAGATAGGGTGGTGGGAAGAAGGG GCCAGCGTGGGGAGCATTCAGGAGGGCTTCCCGGAGGTAGGGTGGTGGGA AGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGT GGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGCCTTCCCGGAG GTAGGGTGGTGGGAAGAAGGGGCCAGCGTGGGGAGCATTCAGGAGGCCTT CCCGGAGGTAGGGTGGTGGGAAGAAGGGG	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding		3296		chr16	TogoVar
NPRL3_chr16_80386_143673	82247	G G	GCTCCCCA others(506): Show GCTCCCCACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCT CCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGG AAGGCCTCCTGAATGCTCCCCACGCTGACCCCTTCTTCCCACCACCCTAT CTCCGGGAAGCCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACC ACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCT TCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCACGCTGGC CCCTTCTTCCCACCACCCTACCTCCAGGAAGCCCTCCTGAATGCTCCCCA CGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATG CTCCCCACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTC CTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGA AGGCCTCCTGAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	350	0.0029	513	c.44 others(524): Show c.4457_*4458insTATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGG GAAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGG GTGGTGGGAAGAAGGGGTCAGTGTGGGGAGCATTCAGGAGGCCTTCCCGG AGATAGGGTGGTGGGAAGAAGGGGTCAGCGTGGGGAGCATTCAGGAGGGC TTCCTGGAGGTAGGGTGGTGGGAAGAAGGGGCCAGCGTGGGGAGCATTCA GGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGA GCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGCCAGC GTGGGGAGCATTCAGGAGGGCTTCCCGGAGATAGGGTGGTGGGAAGAAGG GGTCAGCGTGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGG AAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGG TGGTGGGAAGAAGGGGTCAGTGTGGGGAG	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding		3138		chr16	TogoVar
NPRL3_chr16_80386_143673	82247	G G	GCTCCCCG others(506): Show GCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGCCCT CCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGG AAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACCACCCTAC CTCCGGGAAGCCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACC ACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCT TCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGAC CCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCG CGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATG CTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTC CTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGA AGGCCTCCTGAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01168.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0009 a0001c0001t0011g0034 a0001c0001t0011g0009 a0001c0001t0011g0034	2	350	0.0057	513	c.44 others(524): Show c.4457_*4458insTATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGG GAAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGG GTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGCCTTCCCGG AGGTAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGCC TTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCA GGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGA GCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGCCAGC GTGGGGAGCATTCAGGAGGGCTTCCCGGAGGTAGGGTGGTGGGAAGAAGG GGTCAGTGTGGGGAGCATTCAGGAGGCCTTCCCGGAGATAGGGTGGTGGG AAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGGCTTCCCGGAGATAGGG TGGTGGGAAGAAGGGGTCAGCGCGGGGAG	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding		3138		chr16	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TCCCCTCC others(506): Show TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCCC TCCCACCCTCCCACCCTCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCC TTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCC CTCTCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCTC TCCCCTTCCCCTCC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0044 a0001c0001t0011g0044	1	326	0.0031	513	c.433 others(530): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGAAG GGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGAGAGGGAAGGGGAAGGGG GAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGG GGAGGGGAAGGGGAAGGGGAGGGTGGGAGGGTGGGAGGGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NUP205_chr7_135552917_135653753	135570756	T T	TTATATAT others(506): Show TTATATATTATATTAATATAATTAATTATATTTATATATTATATTAATAT ATATTAATTATATTTATATATTATATTAATATATATTAATTATATTTATA TATTATATTAATATATATTAATTATATTAATATATATTATATTAATATAT ATTAATTATATTTATATATTATATTAATATATATTAATTATATTTATATA TTATATTAATATATATTAATTATATTAATATATATTAATTATATTAATAT ATATTAATATATATTAATTATATTAATATATATTAATATAATTAATATAT ATTAATATATATTATATTAATATATATTATATTAATATATATTAATATAT ATTATATTAATATATATTATATTAATATATATTAATATATATTATATTAA TATATATCAATATATATTATATTAATATATATTATATTAATATATATTAT ATTAATATATATTAATATATATTATATTAATATATATTATATTAATATAT ATTAATTATATTAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01978.hp1 HG00738.hp1 HG01978.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0012 a0002c0006t0001g0074 a0002c0006t0001g0012 a0002c0006t0001g0074	2	352	0.0057	513	c.29- others(526): Show c.29-330_29-329insATTAATTATATTTATATATTATATTAATATAT ATTAATTATATTTATATATTATATTAATATATATTAATTATATTTATATA TTATATTAATATATATTAATTATATTAATATATATTATATTAATATATAT TAATTATATTTATATATTATATTAATATATATTAATTATATTTATATATT ATATTAATATATATTAATTATATTAATATATATTAATTATATTAATATAT ATTAATATATATTAATTATATTAATATATATTAATATAATTAATATATAT TAATATATATTATATTAATATATATTATATTAATATATATTAATATATAT TATATTAATATATATTATATTAATATATATTAATATATATTATATTAATA TATATCAATATATATTATATTAATATATATTATATTAATATATATTATAT TAATATATATTAATATATATTATATTAATATATATTATATTAATATATAT TAATTATATTAATATATATTATATTAATATA	NUP205	ENSG00000155561.15	transcript	ENST00000285968.11	protein_coding	1/42		INFO_REALIGN_3_PRIME	chr7	TogoVar
NXN_chr17_794310_984776	949563	G G	GCGGCCTC others(506): Show GCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCC TCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGC CTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCC CCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCCT CCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCG GCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCT CCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTC CTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCC CTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCT CTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGCC TCCTCCTCTCCCCC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0173 a0001c0001t0026g0173	1	242	0.0041	513	c.360 others(532): Show c.360+29755_360+29756insGGGGGAGAGGAGGAGGCCGCGGGGAG AGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAG GGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAG GAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGG AGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGC CGCGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCCGGGGGGAGAGG AGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGG GGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAG GCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGA GGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGG GGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(506): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAA TACATATATAACATATATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATAACATATATGTATTACATATATGTAATACATATATA ACATGTATTACATATATGTAATACATATATAACATGTATTACATATATGT AATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0021 a0001c0002t0002g0021	1	400	0.0025	513	c.70 others(524): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTAATACATATATAACATATATGTATTACATATATGTAA TACATATATAACATATATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATAACATGTATTACATATATGTAATACATATATAACAT GTATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(506): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATAACATATATGTATTACATATATGTAATACATATATA ACATGTATTACATATATGTAATACATATATAACATGTATTACATATATGT AATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG02015.hp1 HG00323.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0019 a0001c0001t0002 a0001c0001t0019	a0001c0001t0002g0002 a0001c0001t0019g0021 a0001c0001t0002g0002 a0001c0001t0019g0021	2	400	0.0050	513	c.70 others(524): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAA TACATATATAACATATATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATAACATGTATTACATATATGTAATACATATATAACAT GTATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(506): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATAACATATATGTATTACATATATGTAATACATATATA ACATGTATTACATATATGTAATACATATATAACATGTATTACATATATGT AATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp2 NA19010.hp1 NA18965.hp2 NA19010.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0057 a0001c0002t0002g0096 a0001c0002t0002g0057 a0001c0002t0002g0096	2	400	0.0050	513	c.70 others(524): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATAACATGTATTACATATATGTAATACATATATAACAT GTATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(506): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTAATACATATATAACATATATGTATTACATATATGTAATACATATATA ACATGTATTACATATATGTAATACATATATAACATGTATTACATATATGT AATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	400	0.0025	513	c.70 others(524): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATAACATGTATTACATATATGTAATACATATATAACAT GTATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(506): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTAATACATATATA ACATGTATTACATATATGTAATACATATATAACATGTATTACATATATGT AATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG03831.hp1 HG01074.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0003 a0001c0001t0001g0005	2	400	0.0050	513	c.70 others(524): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTAATACATATATAACATGTATTACATATATGTAATACATATATAACAT GTATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721656	A A	ATATATGT others(506): Show ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTAATACATATATA ACATATATGTATTACATATATGTAATACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATTA CGTATATGTAATACACATATAACATATATTACGTATATGTAATACACATA TAACATATATTACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	513	c.70 others(524): Show c.7094_*7095insTATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTAATACATATATAACATATATGTATTACATATATGTAATACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATTACGTATATGTAATACACATATAACATATATTACGTA TATGTAATACACATATAACATATATTACG	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3176		chr20	TogoVar
PNPLA7_chr9_137454952_137555402	137517968	T T	TCACTCCA others(506): Show TCACTCCATCCCCCACTCACTCACTCCACTCTGCTCACTCCATCCCCCAC TCACTCACTCGACTCTGTCCACTCCATCCCCCACTCACTCACTCCACTCT GTCCACTCCATCCCCCGTCACTCACTCCACTCTGTCCACTCCATCCCTCA CTCACTCACTCCACTCTGTCCACTCCATCCCCCACTCACGCACTCACTCC ACTCTGTCCACTCCATCCCCCACTCACTCACTCCACTCTGCTCACTCCAT CCCCCACTCACTCACTCCACTCTGTCCACTCCATCCCTCATTCACTCACT CCACTCTGCTCACTCCATCCCCCACTCACTGACTCCACTCTGTCCACTCC ATCCCCCACTCACTCACTCCACTCTGTCCACTCCATCCCTCATTCACTCA CTCCACTCTGCTCACTCCATCCCCCACTCACTCACTCCACTCTGTCCACT CCATCCCTCATTCACTCACTCCACTCTGCTCACTCCATCCCCCACTCACT GACTCCACTCTGTC	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0048 a0001c0048	a0001c0048t0001 a0001c0048t0001	a0001c0048t0001g0147 a0001c0048t0001g0147	1	188	0.0053	513	c.108 others(532): Show c.1084+1948_1084+1949insGACAGAGTGGAGTCAGTGAGTGGGGG ATGGAGTGAGCAGAGTGGAGTGAGTGAATGAGGGATGGAGTGGACAGAGT GGAGTGAGTGAGTGGGGGATGGAGTGAGCAGAGTGGAGTGAGTGAATGAG GGATGGAGTGGACAGAGTGGAGTGAGTGAGTGGGGGATGGAGTGGACAGA GTGGAGTCAGTGAGTGGGGGATGGAGTGAGCAGAGTGGAGTGAGTGAATG AGGGATGGAGTGGACAGAGTGGAGTGAGTGAGTGGGGGATGGAGTGAGCA GAGTGGAGTGAGTGAGTGGGGGATGGAGTGGACAGAGTGGAGTGAGTGCG TGAGTGGGGGATGGAGTGGACAGAGTGGAGTGAGTGAGTGAGGGATGGAG TGGACAGAGTGGAGTGAGTGACGGGGGATGGAGTGGACAGAGTGGAGTGA GTGAGTGGGGGATGGAGTGGACAGAGTCGAGTGAGTGAGTGGGGGATGGA GTGAGCAGAGTGGAGTGAGTGAGTGGGGGATGGAGTG	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	11/34			chr9	TogoVar
PRRC2B_chr9_131389086_131505193	131420496	T T	TCTTTCTT others(506): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	216	0.0046	513	c.-51 others(530): Show c.-51-9598_-51-9597insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31			chr9	TogoVar
RAB7B_chr1_205971740_206008395	205985737	C C	CCCCACCA others(506): Show CCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCA CCAGGCCCACCATCCCCACCATCCCCACCAGGCCCACCATCCCCACCAGG CTCACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCAC CATCCCCACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCC CCACCATCCCCACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACC ATCCCCACCATCCCCACCAGGCCCACCATCCCCACCAGGCCCACCAGGCC CACCATCCCCACCATCCCCACCAGGCCCACCATCCCCACCAGGCTCACCA GGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCATCCCC ACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCAT CCCCACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCA CCATCCCCACCAGG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	330	0.0030	513	c.397 others(526): Show c.397-73_397-72insCCTGGTGGGGATGGTGGGGATGGTGGGCCTGG TGGGCCTGGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGGATGGTGGGC CTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGGATGGT GGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGAGCCTGGTGGGGA TGGTGGGCCTGGTGGGGATGGTGGGGATGGTGGGCCTGGTGGGCCTGGTG GGGATGGTGGGCCTGGTGGGGATGGTGGGGATGGTGGGCCTGGTGGGCCT GGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGGATGGTGGGCCTGGTGG GCCTGGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGGATGGTGGGCCTG GTGGGCCTGGTGGGGATGGTGGGCCTGGTGAGCCTGGTGGGGATGGTGGG CCTGGTGGGGATGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGG TGGGCCTGGTGGGCCTGGTGGGGATGGTGGG	RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5			chr1	TogoVar
RANBP10_chr16_67718070_67811560	67782758	T T	TCACTTTT others(506): Show TCACTTTTAAGAGCCATCTCTTAAAAGCCACTTTTAAGAGCCATCTCTTA AAAGCCACTTTTAAGAGCCATCTCTTAAAAGCCACTTTTAAGAGCCATCT CTTAAAAGCCACTTTTAAGAGCCATCTCTTAAAAGCCACTTTTAAGAGCC ATCTCTTAAAAGCCACTTTTAAGAGCCATCTCTTAAAAGCCACTTTTAAG AGCCATCTCTTAAAAGCCACTTTTAAGAGCCATCTCTTAAAAGCCACTTT TAAGAGCCATCTCTTAAAAGCCACTTTTAAGAGCCATCTCTTAAAAGCCA CTTTTAAGAGCCATCTCTTAAAAGCCACTTTTAAGAGCCATCTCTTAAAA GCCACTTTTAAGAGCCATCTCTTAAAAGCCACTTTTAAGAGCCATCTCTT AAAAGCCACTTTTAAGAGCCATCTCTTAAAAGCCACTTTTAAGAGCCATC TCTTAAAAGCCACTTTTAAGAGCCATCTCTTAAAAGCCACTTTTAAGAGC CATCTCTTAAAAGC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0083 a0001c0001t0005g0083	1	152	0.0066	513	c.348 others(532): Show c.348-10673_348-10672insGCTTTTAAGAGATGGCTCTTAAAAGT GGCTTTTAAGAGATGGCTCTTAAAAGTGGCTTTTAAGAGATGGCTCTTAA AAGTGGCTTTTAAGAGATGGCTCTTAAAAGTGGCTTTTAAGAGATGGCTC TTAAAAGTGGCTTTTAAGAGATGGCTCTTAAAAGTGGCTTTTAAGAGATG GCTCTTAAAAGTGGCTTTTAAGAGATGGCTCTTAAAAGTGGCTTTTAAGA GATGGCTCTTAAAAGTGGCTTTTAAGAGATGGCTCTTAAAAGTGGCTTTT AAGAGATGGCTCTTAAAAGTGGCTTTTAAGAGATGGCTCTTAAAAGTGGC TTTTAAGAGATGGCTCTTAAAAGTGGCTTTTAAGAGATGGCTCTTAAAAG TGGCTTTTAAGAGATGGCTCTTAAAAGTGGCTTTTAAGAGATGGCTCTTA AAAGTGGCTTTTAAGAGATGGCTCTTAAAAGTGGCTTTTAAGAGATGGCT CTTAAAAGTGGCTTTTAAGAGATGGCTCTTAAAAGTG	RANBP10	ENSG00000141084.12	transcript	ENST00000317506.8	protein_coding	2/13			chr16	TogoVar
RAP1GAP2_chr17_2791438_3042741	2831036	T T	TCCTCCCC others(506): Show TCCTCCCCTGCCCTCCTTCCTCTCCCCTCCCCTTCCCTCCCTTTCCCTCC CCTCCTTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCTTCCCCCTCC CCTCCTCTCCCCTCCCTCCCCTCCCCTTCCTTCCCCTCCCCTCCTCCCCC CTCCCTCCCCTCTCCTTCCTTCCCCTCCCCTCCCCTTCCCTCCCTTTCCC TCCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCTC TCCCCTCCCTCCCCTCCCCTTTTCTCCCTTCCCCTCCCATCCCCTACACT TCCCTCCCCTCCCCTTCCCTACACTTCCGTCCCCTCCCCTTCCCTACACT TCCCTTCCCTCCCCTCCCCTCCCTTTCCCTCCTCTTCCCTCCCCTCCCTT CCCGTCCCCTTCCCTCCCTTCCCCTCCCCCACCCTCCCTTCCCCTCCCTT CTTCTCTCCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTCC CCTCCCTTTCCCTC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0039 a0001c0007t0006g0039	1	218	0.0046	513	c.80+ others(530): Show c.80+30488_80+30489insTCCCCTGCCCTCCTTCCTCTCCCCTCCC CTTCCCTCCCTTTCCCTCCCCTCCTTCCCCTCCCCTTCCCTCCCTTCCCC TCCCCTCCCTTCCCCCTCCCCTCCTCTCCCCTCCCTCCCCTCCCCTTCCT TCCCCTCCCCTCCTCCCCCCTCCCTCCCCTCTCCTTCCTTCCCCTCCCCT CCCCTTCCCTCCCTTTCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCT CCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCTCCCCTTTTCTCCCTTC CCCTCCCATCCCCTACACTTCCCTCCCCTCCCCTTCCCTACACTTCCGTC CCCTCCCCTTCCCTACACTTCCCTTCCCTCCCCTCCCCTCCCTTTCCCTC CTCTTCCCTCCCCTCCCTTCCCGTCCCCTTCCCTCCCTTCCCCTCCCCCA CCCTCCCTTCCCCTCCCTTCTTCTCTCCCCCTCCCCTCCCCTTCCCTCCC TTCCCCTCCCCTCCCCTCCCCTCCCTTTCCCTCCC	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	2831059	C C	CTCCCCTC others(506): Show CTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCCCTCCCCTTCCCTCCCTTT CCCTCCCCTCCTTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCTTCC CCTCCCCTCCTCTCCCCTCCCTCCCCTCCCCTTCCTTCCCCTCTCCTTCC TTCCCCTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCCTTCCCCTCCC CTCCCCTTCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCTCCCC TTTTCTCCCTTCCCCTCCCATCCCCTACACTTCCCTCCCCTCCCCTTCCC TACACTTCCGTCCCCTCCCCTTCCCTACACTTCCCTTCCCTCCCCTCCCC TCCCTTTCCCTCCTCTTCCCTCCCCTCCCTTCCCGTCCCCTTCCCTCCCT TCCCCTCCCCCCACCCTCCCTTCCCCTCCCTTCTTCTCTCCCCCTCCCCT CCCCTTCCCTCCCTTCCCCTCCCCTCCCCTCCCTTTCCCTCCCCTCCCCT CCCCTCCCTTCCCA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0208 a0001c0004t0005g0208	1	218	0.0046	513	c.80+ others(530): Show c.80+30515_80+30516insCCCCTTCCCTCCCTTTCCCTCCCCCCTC CCCTTCCCTCCCTTTCCCTCCCCTCCTTCCCCTCCCCTTCCCTCCCTTCC CCTCCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCTCCCCTTCC TTCCCCTCTCCTTCCTTCCCCTCCCCTCCCCTTCCCTCCCTTTCCCTCCC CTCCCTTCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCTCTCCC CTCCCTCCCCTCCCCTTTTCTCCCTTCCCCTCCCATCCCCTACACTTCCC TCCCCTCCCCTTCCCTACACTTCCGTCCCCTCCCCTTCCCTACACTTCCC TTCCCTCCCCTCCCCTCCCTTTCCCTCCTCTTCCCTCCCCTCCCTTCCCG TCCCCTTCCCTCCCTTCCCCTCCCCCCACCCTCCCTTCCCCTCCCTTCTT CTCTCCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTCCCTT TCCCTCCCCTCCCCTCCCCTCCCTTCCCATCCCCT	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	2831059	C C	CTCCCCTC others(506): Show CTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCTTCCCCTCCCCTTCCC TCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCT CCCCTTCCTTCCCCTCCCCTCCTCCCCCCTCCCTCCCCTCTCCTTCCTTC CCCTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCCTTCCCCTCCCCTC CCCTTCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCTCCCCTTT TCTCCCTTCCCCTCCCATCCCCTACACTTCCCTCCCCTCCCCTTCCCTAC ACTTCCGTCCCCTCCCCTTCCCTACACTTCCCTTCCCTCCCCTCCCCTCC CTTTCCCTCCTCTTCCCTCCCCTCCCTTCCCGTCCCCTTCCCTCCCTTCC CTCCCCCACCCTCCCTTCCCCTCCCTTCTTCTCTCCCCCTCCCCTCCCCT TCCCTCCCTTCCCCTCCCCTCCCCTCCCCTCCCTTTCCCTCCCCTCCCCT CCCCTCCCTTCCCA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02698.hp1 HG02698.hp2 HG00733.hp1 HG02698.hp1 HG02698.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0006 a0001c0002 a0002c0006	a0001c0002t0002 a0001c0002t0116 a0002c0006t0059 a0001c0002t0002 a0001c0002t0116 a0002c0006t0059	a0001c0002t0002g0116 a0001c0002t0116g0214 a0002c0006t0059g0077 a0001c0002t0002g0116 a0001c0002t0116g0214 a0002c0006t0059g0077	3	218	0.0138	513	c.80+ others(530): Show c.80+30515_80+30516insCCCCTTCCCTCCCTTTCCCTCCCCTCCT TCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTC TCCCCTCCCTCCCCTCCCCTTCCTTCCCCTCCCCTCCTCCCCCCTCCCTC CCCTCTCCTTCCTTCCCCTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTC CCTTCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCTCTCCCCTC CCTCCCCTCCCCTTTTCTCCCTTCCCCTCCCATCCCCTACACTTCCCTCC CCTCCCCTTCCCTACACTTCCGTCCCCTCCCCTTCCCTACACTTCCCTTC CCTCCCCTCCCCTCCCTTTCCCTCCTCTTCCCTCCCCTCCCTTCCCGTCC CCTTCCCTCCCTTCCCTCCCCCACCCTCCCTTCCCCTCCCTTCTTCTCTC CCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTCCCCTCCCTT TCCCTCCCCTCCCCTCCCCTCCCTTCCCATCCCCT	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar

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Search Results (Total: 10000 hits)