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
HOMEZ_chr14_23267422_23291132	23280710	T T	TTTTTATT others(529): Show TTTTTATTTTATTTTTTATTTTATTTTATTTTATTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0240 a0002c0002t0002g0240	1	394	0.0025	536	c.41- others(551): Show c.41-3524_41-3523insTAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAATAAAATAAAATAAAATAAAAAATAAA ATAAAA	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
HS3ST2_chr16_22809162_22921338	22818819	T T	TTCCTTCA others(529): Show TTCCTTCATTCCTTCCTCCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTT CCCTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCC TTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTT CCTTCATTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCC TTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCATTCCTTCCTT CCGTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCCTCCC TTCCTTCCTTCCTTCCTTCATTCCTTCCTCCCTTCCTTCCTTCCCTCCTT CCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCC TTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTT CCTTCATTCCTTCCTCCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCC TTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03041.hp1 NA18522.hp2 HG02055.hp2 HG03041.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0007g0285 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0007g0285	3	350	0.0086	536	c.485 others(553): Show c.485+3730_485+3731insATTCCTTCCTCCCTTCCTTCCTTCCCTC CTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCT TCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCCTTC CTTCCTTCCTTCCTTCCTTCATTCCTTCCTTCCTTCCTTCCCTCCTTCCT TCCTTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTC CTTCATTCCTTCCTTCCGTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCT TCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCATTCCTTCCTCCCTTC CTTCCTTCCCTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCT CCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCCTCC CTTCCTTCCTTCCTTCCTTCATTCCTTCCTCCCTTCCTTCCTTCCCTCCT TCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCTTC CCTCCTTC	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
IDE_chr10_92446684_92579093	92524325	T T	TATTATAT others(529): Show TATTATATTATATATAATATATTTTATATAATATATAATATATATTATAT TATATATAATATATTTTATATAATATATAATATATATTATATTATATATA ATATATTTTATATAATATATAATATATATTATATTATATATAATATATTT TATATAATATATAATATATATTATATTATATATAATATATTTTATATAAT ATATAATATATATTATATTATATATAATATATTTTATATAATATATAATA TATATTATATTATATATAATATATTTTATATAATATATAATATATATTAT ATTATATATAATATATTTTATATAATATATAATATATATTATATTATATA TAATATATTTTATATAATATATAATATATATTATATTATATATAATATAT TTTATATAATATATAATATATATTATATTATATATAATATATTTTATATA ATATATAATATATATTATATTATATATAATATATTTTATATAATATATAA TATATATTATATTATATATAATATATTTTATATAATA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02074.hp2 HG02148.hp2 others(4): Show HG01975.hp1 HG02074.hp2 HG02148.hp2 HG02273.hp2 NA18978.hp1 NA19086.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0155 a0001c0001t0002g0235 a0001c0001t0002g0272 others(4): Show a0001c0001t0001g0155 a0001c0001t0002g0235 a0001c0001t0002g0272 a0001c0001t0002g0277 a0001c0001t0002g0304 a0001c0001t0002g0306 a0001c0001t0002g0308	7	314	0.0223	536	c.661 others(553): Show c.661+7422_661+7423insTATTATATAAAATATATTATATATAATA TAATATATATTATATATTATATAAAATATATTATATATAATATAATATAT ATTATATATTATATAAAATATATTATATATAATATAATATATATTATATA TTATATAAAATATATTATATATAATATAATATATATTATATATTATATAA AATATATTATATATAATATAATATATATTATATATTATATAAAATATATT ATATATAATATAATATATATTATATATTATATAAAATATATTATATATAA TATAATATATATTATATATTATATAAAATATATTATATATAATATAATAT ATATTATATATTATATAAAATATATTATATATAATATAATATATATTATA TATTATATAAAATATATTATATATAATATAATATATATTATATATTATAT AAAATATATTATATATAATATAATATATATTATATATTATATAAAATATA TTATATATAATATAATATATATTATATATTATATAAAATATATTATATAT AATATAAT	IDE	ENSG00000119912.18	transcript	ENST00000265986.11	protein_coding	4/24			chr10	TogoVar
IFNAR1_chr21_33319970_33364864	33321386	C C	CATATATG others(529): Show CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGTATATATGGAACATATATACATATATGTATATATGGAA CATATATACATATATGTATATATGGAACATATATACATATATGTATATAT GGAACATATATACATATATGTATATATGGAACATATATACATATATGTAT ATATGGAACATATATACATATATGGAACCAATACATACATGGAACATATA TATGTGGAACCAATACATACATGGAACATATATATGTGGAACCAATACAT ACATGGAACATATATATGTGGAACCAATACATATACGGAACATATATATG TGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATAC GGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGA ACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGGAA CATATATATGTGGAACCAATACATATACGGAACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0232 a0002c0002t0002g0232	1	323	0.0031	536	c.-36 others(547): Show c.-3670_-3669insATATATGTATATATGGAACATATATACATATATG TATATATGGAACATATATACATATATGTATATATGGAACATATATACATA TATGTATATATGGAACATATATACATATATGTATATATGGAACATATATA CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGTATATATGGAACATATATACATATATGGAACCAATACA TACATGGAACATATATATGTGGAACCAATACATACATGGAACATATATAT GTGGAACCAATACATACATGGAACATATATATGTGGAACCAATACATATA CGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTGG AACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGGA ACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACC AATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACAT AT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3583		chr21	TogoVar
INPP5A_chr10_132532787_132788480	132771699	C C	CAGCAGCC others(529): Show CAGCAGCCACCCGATGAAGAGTGGGACGGACACTCAGCACTGACACAGAG GCCACGGCAGCCGCCCCGTGAAGAGTGGGGCACTCAGCACTGACACGGAG GCCACGGCAGCCACCCCGCGAAGAGTGGGACAGACACTCAGCACTGACAC AGAGGCCACGGCAGCCACCCCATGAAGAGTGGGACAGACACTCAGCACTG ACACGGAGGCCACGGCAGCCACCCCACGAGGAGTGGGACAGACACTCAGC ACTGACACAGAGGCCACGGCAGCCACCCCATGAAGAGTGGGACGGACACT CAGCACTGACACAGAGGCCACAGCAGCCACCCGATGAAGAGTGGGACGGA CACTCAGCACTGACACAGAGGCCCCGGCAGCCACCCGATGAAGAGTGGGA CGGACACTCAGCACTGACACGGAGGCCCCGGCAGCCACCCCATGAAGAGT GGGACAGACACTCAGCACTGACACAGAGGCCACAGCAGCCACCCCATGAA GAGTGGGACGGACACTCAGCACTGACACGGAGGCCCT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	204	0.0049	536	c.977 others(553): Show c.977+5853_977+5854insAGCAGCCACCCGATGAAGAGTGGGACGG ACACTCAGCACTGACACAGAGGCCACGGCAGCCGCCCCGTGAAGAGTGGG GCACTCAGCACTGACACGGAGGCCACGGCAGCCACCCCGCGAAGAGTGGG ACAGACACTCAGCACTGACACAGAGGCCACGGCAGCCACCCCATGAAGAG TGGGACAGACACTCAGCACTGACACGGAGGCCACGGCAGCCACCCCACGA GGAGTGGGACAGACACTCAGCACTGACACAGAGGCCACGGCAGCCACCCC ATGAAGAGTGGGACGGACACTCAGCACTGACACAGAGGCCACAGCAGCCA CCCGATGAAGAGTGGGACGGACACTCAGCACTGACACAGAGGCCCCGGCA GCCACCCGATGAAGAGTGGGACGGACACTCAGCACTGACACGGAGGCCCC GGCAGCCACCCCATGAAGAGTGGGACAGACACTCAGCACTGACACAGAGG CCACAGCAGCCACCCCATGAAGAGTGGGACGGACACTCAGCACTGACACG GAGGCCCT	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15			chr10	TogoVar
INPP5A_chr10_132532787_132788480	132771711	C C	CATGAAGA others(529): Show CATGAAGAGTGGGACGGACACTCAGCACTGACACGGAGGCCCAGGCAGCC GCCCCGTGAAGAGTGGGGCACTCAGCACTGACACGGAGGCCACGGCAGCC ACCCCGCGAAGAGTGGGACAGACACTCAGCACTGACACAGAGGCCACAGC AGCCACCCGATGAAGAGTGGGACGGACACTCAGCACTGACACAGAGGCCA CGGCAGCCACCCCACGAGGAGTGGGACAGACACTCAGCACTGACACAGAG GCCACAGCAGCCACCCCATGAAGAGTGGGACGGACACTCAGCACTGACAC AGAGGCCACGGCAGCCACCCCACGAGGAGTGGGACAGACACTCAGCACTG ACACAGAGGCCACAGCAGCCACCCCATGAAGAGTGGGACGGACACTCAGC ACTGACACGGAGGCCACGGCAGCCACCCCACGAGGAGTGGGACAGACACT CAGCACTGACACAGAGGCCACGGCAGCCACCCCATGAAGAGTGGGACAGA CACTCAGCACTGACACAGAGGCCACAGCAGCCACCCG	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0060 a0002c0002t0001g0060	1	204	0.0049	536	c.977 others(553): Show c.977+5879_977+5880insGGACACTCAGCACTGACACGGAGGCCCA GGCAGCCGCCCCGTGAAGAGTGGGGCACTCAGCACTGACACGGAGGCCAC GGCAGCCACCCCGCGAAGAGTGGGACAGACACTCAGCACTGACACAGAGG CCACAGCAGCCACCCGATGAAGAGTGGGACGGACACTCAGCACTGACACA GAGGCCACGGCAGCCACCCCACGAGGAGTGGGACAGACACTCAGCACTGA CACAGAGGCCACAGCAGCCACCCCATGAAGAGTGGGACGGACACTCAGCA CTGACACAGAGGCCACGGCAGCCACCCCACGAGGAGTGGGACAGACACTC AGCACTGACACAGAGGCCACAGCAGCCACCCCATGAAGAGTGGGACGGAC ACTCAGCACTGACACGGAGGCCACGGCAGCCACCCCACGAGGAGTGGGAC AGACACTCAGCACTGACACAGAGGCCACGGCAGCCACCCCATGAAGAGTG GGACAGACACTCAGCACTGACACAGAGGCCACAGCAGCCACCCGATGAAG AGTGGGAC	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132772182	A A	AGCAGCCA others(529): Show AGCAGCCACCCCACGAAGAGTGGGACGGACACTCAGCACTGACACAGAGG CCACGGCAGCCACCCCACGAGGAGTGGGACAGACACTCAGCACTGACACA GAGGCCACGGCAGCCACCCCACGAAGAGTGGGACGGACACTCAGCACTGA CACAGAGGCCACGGCAGCCGCCCCACGAAGAGTGGGACGGACACTCAGCA CTGACACAGAGGCCACGGCAGCCGCCCCACGAAGAGTGGGACGGACACTC AGCACTGACACAGAGGCCACGGCAGCCGCCCCACGAAGAGTGGGACGGAC ACTCAGCACTGACACGGAGGCCCCGGCAGCCGCCCCGCGAAGAGTGGGAC AGACACTCAGCACTGACACAGAGGCCACGGCAGCCACCCCATGAAGAGTG GGACGGACACTCAGCACTGACACGGAGGCCCAGGCAGCCGCCCCGTGAAG AGTGGGGCACTCAGCACTGACACGGAGGCCACGGCAGCCACCCCGCGAAG AGTGGGACAGACACTCAGCACTGACACAGAGGCCACG	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA19011.hp2 HG02523.hp1 NA19011.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0083 a0002c0002t0001g0084	2	204	0.0098	536	c.978 others(553): Show c.978-5479_978-5478insCACGAAGAGTGGGACGGACACTCAGCAC TGACACAGAGGCCACGGCAGCCACCCCACGAGGAGTGGGACAGACACTCA GCACTGACACAGAGGCCACGGCAGCCACCCCACGAAGAGTGGGACGGACA CTCAGCACTGACACAGAGGCCACGGCAGCCGCCCCACGAAGAGTGGGACG GACACTCAGCACTGACACAGAGGCCACGGCAGCCGCCCCACGAAGAGTGG GACGGACACTCAGCACTGACACAGAGGCCACGGCAGCCGCCCCACGAAGA GTGGGACGGACACTCAGCACTGACACGGAGGCCCCGGCAGCCGCCCCGCG AAGAGTGGGACAGACACTCAGCACTGACACAGAGGCCACGGCAGCCACCC CATGAAGAGTGGGACGGACACTCAGCACTGACACGGAGGCCCAGGCAGCC GCCCCGTGAAGAGTGGGGCACTCAGCACTGACACGGAGGCCACGGCAGCC ACCCCGCGAAGAGTGGGACAGACACTCAGCACTGACACAGAGGCCACGGC AGCCACCC	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132772193	G G	GATGAAGA others(529): Show GATGAAGAGTGGGACAGACACTCAGCACTGACACAGAGGCCACGGCAGCC ACCCCATGAAGAGTGGGACGGACACTCAGCACTGACACAGAGGCCACGGC AGCCGCCCCACGAAGAGTGGGACGGACACTCAGCACTGACACAGAGGCCA CGGCAGCCGCCCCACGAAGAGTGGGACGGACACTCAGCACTGACACGGAG GCCACGGCAGCCGCCCCACGAAGAGTGGGACGGACACTCAGCACTGACAC GGAGGCCACGGCAGCCGCCCCACGAAGAGTGGGACGGACACTCAGCACTG ACACGGAGGCCACGGCAGCCGCCCCACGAAGAGTGGGACGGACACTCAGC ACTGACACGGAGGCCACGGCAGCCGCCCCACGAAGAGTGGGACGGACACT CAGCACTGACACGGAGGCCCAGGCAGCCGCCCCGTGAAGAGTGGGGCACT CAGCACTGACACGGAGGCCCCGGCAGCCGCCCCGCGAAGAGTGGGACAGA CACTCAGCACTGACACAGAGGCCACGGCAGCCACCCC	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	204	0.0049	536	c.978 others(553): Show c.978-5464_978-5463insAGACACTCAGCACTGACACAGAGGCCAC GGCAGCCACCCCATGAAGAGTGGGACGGACACTCAGCACTGACACAGAGG CCACGGCAGCCGCCCCACGAAGAGTGGGACGGACACTCAGCACTGACACA GAGGCCACGGCAGCCGCCCCACGAAGAGTGGGACGGACACTCAGCACTGA CACGGAGGCCACGGCAGCCGCCCCACGAAGAGTGGGACGGACACTCAGCA CTGACACGGAGGCCACGGCAGCCGCCCCACGAAGAGTGGGACGGACACTC AGCACTGACACGGAGGCCACGGCAGCCGCCCCACGAAGAGTGGGACGGAC ACTCAGCACTGACACGGAGGCCACGGCAGCCGCCCCACGAAGAGTGGGAC GGACACTCAGCACTGACACGGAGGCCCAGGCAGCCGCCCCGTGAAGAGTG GGGCACTCAGCACTGACACGGAGGCCCCGGCAGCCGCCCCGCGAAGAGTG GGACAGACACTCAGCACTGACACAGAGGCCACGGCAGCCACCCCATGAAG AGTGGGAC	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132772208	G G	GGACACTC others(529): Show GGACACTCAGCACTGACACAGAGGCCACGGCAGCCACCCCACGAGGAGTG GGACAGACACTCAGCACTGACACAGAGGCCACGGCAGCCACCCCACGAAG AGTGGGACGGACACTCAGCACTGACACAGAGGCCACGGCAGCCGCCCCAC GAAGAGTGGGACGGACACTCAGCACTGACACAGAGGCCACGGCAGCCGCC CCACGAAGAGTGGGACGGACACTCAGCACTGACACAGAGGCCACGGCAGC CGCCCCACGAAGAGTGGGACGGACACTCAGCACTGACACGGAGGCCCCGG CAGCCGCCCCGCGAAGAGTGGGACAGACACTCAGCACTGACACAGAGGCC ACGGCAGCCACCCCATGAAGAGTGGGACGGACACTCAGCACTGACACGGA GGCCCAGGCAGCCGCCCCGTGAAGAGTGGGGCACTCAGCACTGACACGGA GGCCACGGCAGCCACCCCGCGAAGAGTGGGACAGACACTCAGCACTGACA CAGAGGCCACGGCAGCCACCCCATGAAGAGTGGGACA	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0132 a0002c0002t0002g0132	1	204	0.0049	536	c.978 others(553): Show c.978-5436_978-5435insGGCAGCCACCCCACGAGGAGTGGGACAG ACACTCAGCACTGACACAGAGGCCACGGCAGCCACCCCACGAAGAGTGGG ACGGACACTCAGCACTGACACAGAGGCCACGGCAGCCGCCCCACGAAGAG TGGGACGGACACTCAGCACTGACACAGAGGCCACGGCAGCCGCCCCACGA AGAGTGGGACGGACACTCAGCACTGACACAGAGGCCACGGCAGCCGCCCC ACGAAGAGTGGGACGGACACTCAGCACTGACACGGAGGCCCCGGCAGCCG CCCCGCGAAGAGTGGGACAGACACTCAGCACTGACACAGAGGCCACGGCA GCCACCCCATGAAGAGTGGGACGGACACTCAGCACTGACACGGAGGCCCA GGCAGCCGCCCCGTGAAGAGTGGGGCACTCAGCACTGACACGGAGGCCAC GGCAGCCACCCCGCGAAGAGTGGGACAGACACTCAGCACTGACACAGAGG CCACGGCAGCCACCCCATGAAGAGTGGGACAGACACTCAGCACTGACACA GAGGCCAC	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GAGGGGTA others(529): Show GAGGGGTAGGGAGAGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGA CAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGAGAGGAGGGGCAGGGAG GAGGGGCAGGGAGGAGGGGGGGCAGGGAGGAGGGACGGAGGAGAGAGGGG CAGGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAG GAGAGATGGGCAGAGAGGAGGGGCAGGGAGAGAGGGGCAGGGAGGAGAGA GGGGCAGGGAGAGAGGGGCAGGGAGGAGGGGGGGCAGGGAGGAGGGACAG GGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGAGGAGGGGCAGGGAGGAG GGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGG CAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAG GAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAAACGGGCAGGGAGGAG AGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18973.hp1 NA18945.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0043 a0001c0001t0001g0044	2	204	0.0098	536	c.978 others(553): Show c.978-2483_978-2482insAGGGGTAGGGAGAGACGGGCAGGGAGGA GGGGCAGGGAGGAGAGAGGGACAGGGAGGAGGGGCAGGGAGGAGAGAGGG GCAGAGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGGGGCAGGGAG GAGGGACGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGAGGAGAGACAG GCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGAGAGGAGGGGCAGGGA GAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGAGAGGGGCAGGGAGGAGG GGGGGCAGGGAGGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCA GGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGA GGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGG GCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGA GGAGAAACGGGCAGGGAGGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGG GGCAGGGA	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15			chr10	TogoVar
IRAG2_chr12_25047706_25113335	25077266	A A	AATATATA others(529): Show AATATATATATCATATATATATGAAATATATATATCATATATATATGAAA TATATATATCATATATATATGAAATATATATATCATATATATATGAAATA TATATATCATATATATATGAAATATATATATCATATATATATGAAATATA TATATCATATATATATGAAATATATATATCATATATATATGAAATATATA TATCATATATATATGAAATATATATATCATATATATATGAAATATATATA TCATATATATATGAAATATATATATCATATATATATGAAATATATATATG ATATATGAAATATATATGATATATGAAATATATATATGATATATGAAATA TATATATGATATATATATGAAATATATATATGATATATATATGAAATATA TATATGATATATATGAAATATATATATGATATATATGAAATATATATATG ATATATATATGAAATATATATATGATATATATATGATATATATATATGAT ATATATATGATATATATATATGATATATATATGATAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0043 a0002c0002t0001g0044	2	344	0.0058	536	c.25- others(551): Show c.25-1970_25-1969insATCATATATATATGAAATATATATATCATA TATATATGAAATATATATATCATATATATATGAAATATATATATCATATA TATATGAAATATATATATCATATATATATGAAATATATATATCATATATA TATGAAATATATATATCATATATATATGAAATATATATATCATATATATA TGAAATATATATATCATATATATATGAAATATATATATCATATATATATG AAATATATATATCATATATATATGAAATATATATATCATATATATATGAA ATATATATATGATATATGAAATATATATGATATATGAAATATATATATGA TATATGAAATATATATATGATATATATATGAAATATATATATGATATATA TATGAAATATATATATGATATATATGAAATATATATATGATATATATGAA ATATATATATGATATATATATGAAATATATATATGATATATATATGATAT ATATATATGATATATATATGATATATATATATGATATATATATGATATAT ATATAT	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
IRAG2_chr12_25047706_25113335	25077266	A A	AATATATA others(529): Show AATATATATATGATATATATATGAAATATATATATCATATATATATGAAA TATATATATCATATATATATGAAATATATATATCATATATATATGAAATA TATATATCATATATATATGAAATATATATATCATATATATATGATATATA TATATCATATATATATGAAATATATATATCATATATATATGAAATATATA TATCATATATATATGAAATATATATATCATATATATATGAAATATATATA TCATATATATATGAAATATATATATCATATATATATGAAATATATATATG ATATATGAAATATATATATGATATATGAAATATATATGATATATGAAATA TATATATGATATATGAAATATATATATGATATATATATGAAATATATATA TGATATATATATGAAATATATATATGATATATATATGAAATATATATATG ATATATATATGAAATATATATATGATATATATATGATATATATATATGAT ATATATATGATATATATATATGATATATATATGATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	344	0.0029	536	c.25- others(551): Show c.25-1970_25-1969insATGATATATATATGAAATATATATATCATA TATATATGAAATATATATATCATATATATATGAAATATATATATCATATA TATATGAAATATATATATCATATATATATGAAATATATATATCATATATA TATGATATATATATATCATATATATATGAAATATATATATCATATATATA TGAAATATATATATCATATATATATGAAATATATATATCATATATATATG AAATATATATATCATATATATATGAAATATATATATCATATATATATGAA ATATATATATGATATATGAAATATATATATGATATATGAAATATATATGA TATATGAAATATATATATGATATATGAAATATATATATGATATATATATG AAATATATATATGATATATATATGAAATATATATATGATATATATATGAA ATATATATATGATATATATATGAAATATATATATGATATATATATGATAT ATATATATGATATATATATGATATATATATATGATATATATATGATATAT ATATAT	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
JAKMIP1_chr4_6021199_6205549	6037637	G G	GCAGAGGT others(529): Show GCAGAGGTTAACCCAGTAGCCCTCCATCACCGAGGCAGAGGCTAACCGGT AGCCCTCCATCACTGAGTCAGAGGTTAACCCAGTAGCCCTCCATCACCGA GGCAGAGGCTAACTGGTAGCCCTCCATCACTGAGTCAGAGGTTAACCCAG TAGCCCTCCATCACCGAGGCAGAGGCTAACCGGTAGCCCTCCATCACCGA GGCAGAGGCTAACCAGTATCCCTCCATCACTGAGGCAGAGGTTAACCCAG TAGCCCTCCATCACTGAGGCAGAGGCTAACCGGTATCCCTCCATCACTGA GTCAGAGGTTAACCCAGTAGCCCTCCATCACCGAGGCAGAGGCTAACCAG TAGCCCTCCATCACTGAGGCAGAGGTTAACCCAGTAGCCCTCCAACACCA AGGCAGAGGCTAACCAGTATCCCTCCATCACCGAGGCAGAGGTTAACCCA GTAGCCCTCCATCACTGAGGCAGAGGTTAACCCAGTAGCCCTCCATCACT GAGGCAGAGGCTAACCGGTATCCCTCCATCACTGAGT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	233	0.0043	536	c.217 others(555): Show c.2176-2066_2176-1531dupACTCAGTGATGGAGGGATACCGGTTA GCCTCTGCCTCAGTGATGGAGGGCTACTGGGTTAACCTCTGCCTCAGTGA TGGAGGGCTACTGGGTTAACCTCTGCCTCGGTGATGGAGGGATACTGGTT AGCCTCTGCCTTGGTGTTGGAGGGCTACTGGGTTAACCTCTGCCTCAGTG ATGGAGGGCTACTGGTTAGCCTCTGCCTCGGTGATGGAGGGCTACTGGGT TAACCTCTGACTCAGTGATGGAGGGATACCGGTTAGCCTCTGCCTCAGTG ATGGAGGGCTACTGGGTTAACCTCTGCCTCAGTGATGGAGGGATACTGGT TAGCCTCTGCCTCGGTGATGGAGGGCTACCGGTTAGCCTCTGCCTCGGTG ATGGAGGGCTACTGGGTTAACCTCTGACTCAGTGATGGAGGGCTACCAGT TAGCCTCTGCCTCGGTGATGGAGGGCTACTGGGTTAACCTCTGACTCAGT GATGGAGGGCTACCGGTTAGCCTCTGCCTCGGTGATGGAGGGCTACTGGG TTAACCTCTG	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	18/20			chr4	TogoVar
JAKMIP3_chr10_132060946_132189858	132173146	C C	CCCTCTTC others(529): Show CCCTCTTCTCTCTCCCCCTCCTTCCCCCTCTCTCTCCCCCTCCCCTCCCT CCTCACTCCCCCTCCCCCCTCCTCCCTCTCTCCCCCTCCCCTCCCCCTCC TCCCCCTCCCCTCCCCCCTCTCTCCCCTCCCCTCACCCCTCCCCCTCTCT CCCCTCCCCCCTCCCCCTCCCTCCCCCTCTCTCTCCCCCTCTCTCTCCCC CTCCCCTCCCCCCTCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCATCC CCCTCCCCCATCCCCTCCCCCATCCCCCTCCCCCATCCCCTCCCCCATCC CCCTCCCCCTCCTTCCTCTCCCCCTCCCCCTCCTTCCCTCTCCCCTCCCC CTCCTTCCCTCTCTCCCCCTCCTTCCCTCTCTCCCCCTCCTCCCTCTCTC TCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTC TCTCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTTCCCTCTCTCTCT CTCCCCCTCCTTCCCCCTGTCTCTCTCTCCCCTCCTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0033 a0005c0012t0033	a0005c0012t0033g0046 a0005c0012t0033g0046	1	158	0.0063	536	c.11 others(557): Show c.1103+4118_*1103+4119insTCTCTCTCCCCCTCCTTCCCCCTC TCTCTCCCCCTCCCCTCCCTCCTCACTCCCCCTCCCCCCTCCTCCCTCTC TCCCCCTCCCCTCCCCCTCCTCCCCCTCCCCTCCCCCCTCTCTCCCCTCC CCTCACCCCTCCCCCTCTCTCCCCTCCCCCCTCCCCCTCCCTCCCCCTCT CTCTCCCCCTCTCTCTCCCCCTCCCCTCCCCCCTCTCCCCCTCCCCCTCC CCCCTCCCCCTCCCCCATCCCCCTCCCCCATCCCCTCCCCCATCCCCCTC CCCCATCCCCTCCCCCATCCCCCTCCCCCTCCTTCCTCTCCCCCTCCCCC TCCTTCCCTCTCCCCTCCCCCTCCTTCCCTCTCTCCCCCTCCTTCCCTCT CTCCCCCTCCTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCC CCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCTC CCCCCCTTCCCTCTCTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTCTCC CCTCCTTCCTCT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KDM2A_chr11_67114263_67263082	67222609	G G	GTGGCCGG others(529): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGAGGGGGCTGAC CCCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGACCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGG ACGGGGCAGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02897.hp2 HG03195.hp1 others(4): Show HG02818.hp1 HG02897.hp2 HG03195.hp1 HG03453.hp1 HG03471.hp1 NA18522.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 others(4): Show a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0217	7	220	0.0318	536	c.957 others(553): Show c.957+3266_957+3267insCCTCCCGGACGGGGCGGCTGGCCGGGCG AGGGGGCTGACCCCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGACCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCAC CTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACACCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCA	KDM2A	ENSG00000173120.15	transcript	ENST00000529006.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KDM2A_chr11_67114263_67263082	67222609	G G	GTGGCCGG others(529): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGAGGGGGCTGAC CCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGACCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGG ACGGGGCAGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACACCCCCACCTCCGTCCCGGACGGGGCGGC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0090 a0001c0002t0001g0090	1	220	0.0046	536	c.957 others(553): Show c.957+3266_957+3267insCCTCCCGGACGGGGCGGCTGGCCGGGCG AGGGGGCTGACCCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGG CGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGACCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCAC CTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACACCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACACCCCCACCTCCGTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCA	KDM2A	ENSG00000173120.15	transcript	ENST00000529006.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KDM2A_chr11_67114263_67263082	67222609	G G	GTGGCCGG others(529): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGAGGGGGCTGAC CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGA CACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGACCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGG ACGGGGCAGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp2 HG02071.hp1 HG00597.hp2 HG00609.hp2 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0061 a0001c0001t0005g0071 a0001c0001t0005g0091 a0001c0001t0005g0061 a0001c0001t0005g0071 a0001c0001t0005g0091	3	220	0.0136	536	c.957 others(553): Show c.957+3266_957+3267insCCTCCCGGACGGGGCGGCTGGCCGGGCG AGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGG CGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGACCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCAC CTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACACCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCA	KDM2A	ENSG00000173120.15	transcript	ENST00000529006.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KDM2A_chr11_67114263_67263082	67222609	G G	GTGGCCGG others(529): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGAGGGGGCTGAC CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGACCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGAGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGG ACGGGGCAGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGACTGGCCGGGCGGGG GGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGG GGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	220	0.0046	536	c.957 others(553): Show c.957+3266_957+3267insCCTCCCGGACGGGGCGGCTGGCCGGGCG AGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGACCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGAGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCAC CTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACACCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGACTG GCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGTGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCA	KDM2A	ENSG00000173120.15	transcript	ENST00000529006.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KDM2A_chr11_67114263_67263082	67222609	G G	GTGGCCGG others(529): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGAGGGGGCTGAC CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGACCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGG ACGGGGCAGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGACTGGCCGGGCGGGG GGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGG GGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG00609.hp1 others(54): Show HG00423.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00733.hp2 HG00735.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01496.hp1 HG01943.hp1 HG01978.hp2 HG02015.hp2 HG02027.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp2 HG02145.hp1 HG02257.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02559.hp1 HG03688.hp1 NA18612.hp1 NA18906.hp2 NA18942.hp1 NA18945.hp1 NA18948.hp2 NA18983.hp1 NA18988.hp1 NA18993.hp2 NA18998.hp2 NA19000.hp1 NA19003.hp1 NA19011.hp2 NA19057.hp1 NA19060.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp2 NA19084.hp2 NA19088.hp1 NA19240.hp1 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 a0001c0001t0001 a0001c0001t0004 a0001c0004t0001	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(54): Show a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0004g0034 a0001c0001t0004g0185 a0001c0001t0004g0211 a0001c0004t0001g0195	57	220	0.2591	536	c.957 others(553): Show c.957+3266_957+3267insCCTCCCGGACGGGGCGGCTGGCCGGGCG AGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGACCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCAC CTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACACCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGACTG GCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGTGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCA	KDM2A	ENSG00000173120.15	transcript	ENST00000529006.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KDM2A_chr11_67114263_67263082	67222609	G G	GTGGCCGG others(529): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGAGGGGGCTGAC CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGACCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGG ACGGGGCAGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GCGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACACCCCCACCTCCGTCCCGGACGGGGCGGC	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0047 a0001c0002t0003g0047	1	220	0.0046	536	c.957 others(553): Show c.957+3266_957+3267insCCTCCCGGACGGGGCGGCTGGCCGGGCG AGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGACCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCAC CTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACACCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGCGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACACCCCCACCTCCGTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCA	KDM2A	ENSG00000173120.15	transcript	ENST00000529006.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KDM2A_chr11_67114263_67263082	67222609	G G	GTGGCCGG others(529): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGAGGGGGCTGAC CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGACCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGG ACGGGGCAGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00621.hp2 others(43): Show HG00438.hp1 HG00438.hp2 HG00621.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG01070.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp1 HG01175.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG02027.hp2 HG02074.hp1 HG02132.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp2 HG02723.hp1 HG02818.hp2 HG03098.hp1 HG03195.hp2 HG03225.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG06807.hp1 NA18612.hp2 NA18940.hp1 NA18948.hp1 NA18950.hp1 NA18984.hp2 NA18998.hp1 NA19043.hp1 NA19043.hp2 NA19060.hp2 NA19065.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0001c0005t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(43): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0007g0089 a0001c0001t0009g0164 a0001c0005t0001g0062	46	220	0.2091	536	c.957 others(553): Show c.957+3266_957+3267insCCTCCCGGACGGGGCGGCTGGCCGGGCG AGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGACCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCAC CTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACACCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCA	KDM2A	ENSG00000173120.15	transcript	ENST00000529006.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KDM2A_chr11_67114263_67263082	67222609	G G	GTGGCCGG others(529): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGAGGGGGCTGAC CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGACCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGG ACGGGGCAGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACACCCCCACCTCCGTCCCGGACGGGGCGGC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00558.hp1 HG01255.hp2 others(14): Show HG00140.hp2 HG00558.hp1 HG01255.hp2 HG01928.hp1 HG01981.hp1 HG02015.hp1 HG02135.hp1 HG02809.hp2 HG02922.hp2 HG02970.hp1 HG03540.hp2 NA18906.hp1 NA18940.hp2 NA18942.hp2 NA18963.hp1 NA18993.hp1 NA19000.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0006 a0001c0002 a0002c0006	a0001c0002t0001 a0001c0002t0003 a0001c0002t0010 others(1): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0010 a0002c0006t0003	a0001c0002t0001g0041 a0001c0002t0001g0043 a0001c0002t0001g0045 others(14): Show a0001c0002t0001g0041 a0001c0002t0001g0043 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0048 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0070 a0001c0002t0001g0116 a0001c0002t0001g0118 a0001c0002t0003g0002 a0001c0002t0003g0040 a0001c0002t0003g0044 a0001c0002t0003g0049 a0001c0002t0010g0117 a0002c0006t0003g0003	17	220	0.0773	536	c.957 others(553): Show c.957+3266_957+3267insCCTCCCGGACGGGGCGGCTGGCCGGGCG AGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGACCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCAC CTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACACCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACACCCCCACCTCCGTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCA	KDM2A	ENSG00000173120.15	transcript	ENST00000529006.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KDM2A_chr11_67114263_67263082	67222609	G G	GTGGCCGG others(529): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGAGGGGGCTGAC CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGACCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGG ACGGGGCAGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GTGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACACCCCCATCTCCCTCCCGGACGGGGCGGC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00558.hp2 others(17): Show HG00408.hp2 HG00423.hp2 HG00558.hp2 HG02280.hp1 HG02622.hp1 HG02717.hp1 HG02922.hp1 HG03688.hp2 NA18747.hp2 NA18945.hp2 NA18963.hp2 NA18983.hp2 NA19011.hp1 NA19057.hp2 NA19065.hp2 NA19067.hp2 NA19068.hp1 NA19084.hp1 NA19088.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 others(17): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0055 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0218	20	220	0.0909	536	c.957 others(553): Show c.957+3266_957+3267insCCTCCCGGACGGGGCGGCTGGCCGGGCG AGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGACCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCAC CTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACACCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGTGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACACCCCCATCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCA	KDM2A	ENSG00000173120.15	transcript	ENST00000529006.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KDM2A_chr11_67114263_67263082	67222609	G G	GTGGCCGG others(529): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGAGGGGGCTGAC CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGACCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGG ACGGGGCAGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGA TGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGACTGGCCGGGCGGGG GGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGG GGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGC	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	220	0.0046	536	c.957 others(553): Show c.957+3266_957+3267insCCTCCCGGACGGGGCGGCTGGCCGGGCG AGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGACCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCAC CTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACACCCCCACC TCCCTCCCGGATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGACTG GCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGTGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCA	KDM2A	ENSG00000173120.15	transcript	ENST00000529006.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KDM2A_chr11_67114263_67263082	67222609	G G	GTGGCCGG others(529): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGAGGGGGCTGAC CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGACCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGG ACGGGGCAGCTGGCCGGGTGGGGGGCTGACACCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGACTGGCCGGGCGGGG GGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGG GGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGC	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	220	0.0046	536	c.957 others(553): Show c.957+3266_957+3267insCCTCCCGGACGGGGCGGCTGGCCGGGCG AGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGACCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCAC CTCCCTCCCGGACGGGGCAGCTGGCCGGGTGGGGGGCTGACACCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGACTG GCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGTGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCA	KDM2A	ENSG00000173120.15	transcript	ENST00000529006.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KDM2A_chr11_67114263_67263082	67222609	G G	GTGGCCGG others(529): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGACCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGG ACGGGGCAGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGG GGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	220	0.0046	536	c.957 others(553): Show c.957+3266_957+3267insCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGACCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCAC CTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACACCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCTGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCA	KDM2A	ENSG00000173120.15	transcript	ENST00000529006.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
LAMC1_chr1_183018420_183150592	183149453	T T	TCCTCACA others(529): Show TCCTCACACCACAGAGCCCACACCCCTCTCCTCACACACCACACAGCTCA CATCCCTCTCCTCACACACCACACAGCCCACACCCCTGTCCTCCTCACAC ACCACACAGCCCACACCCCTCCTCACACACCACACAGCTCACACCCCTCT CCTGCTCACACACCACACAGCCCACACCCCTCTCCTCCTCACACACCACA CAGCTCACACCCCTCTCCTCACACACCACACAGCCCACACCCCTCTCCTC ACACACCAGACAGCTCACACCCCTCTCCTCCTCACACACCACACAGCTCA CACCCCTCTCCTCCTCACACACCACACAGCTCACACCCCTCTCCTGCTCA CACACCACACAGCTCACACCCCTCTCCTCACACACCACACAGCTCACACC CCTCTCCTGCTCACACACCACACAGCTCACACCCCTGTCCTCCTCACACA CCACACAGCCCACACCCCTCTCCTCCTCACACCACAGAGCCCACACCCCT CTCCTCACACACCACACAGCTCACATCCCTCTCCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0062 a0001c0002t0002g0062	1	308	0.0033	536	c.66 others(547): Show c.6663_*6664insCCTCACACCACAGAGCCCACACCCCTCTCCTCAC ACACCACACAGCTCACATCCCTCTCCTCACACACCACACAGCCCACACCC CTGTCCTCCTCACACACCACACAGCCCACACCCCTCCTCACACACCACAC AGCTCACACCCCTCTCCTGCTCACACACCACACAGCCCACACCCCTCTCC TCCTCACACACCACACAGCTCACACCCCTCTCCTCACACACCACACAGCC CACACCCCTCTCCTCACACACCAGACAGCTCACACCCCTCTCCTCCTCAC ACACCACACAGCTCACACCCCTCTCCTCCTCACACACCACACAGCTCACA CCCCTCTCCTGCTCACACACCACACAGCTCACACCCCTCTCCTCACACAC CACACAGCTCACACCCCTCTCCTGCTCACACACCACACAGCTCACACCCC TGTCCTCCTCACACACCACACAGCCCACACCCCTCTCCTCCTCACACCAC AGAGCCCACACCCCTCTCCTCACACACCACACAGCTCACATCCCTCTCCT CA	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		3862		chr1	TogoVar
LINGO2_chr9_27932617_29218601	28189681	A A	AAGGAAGG others(529): Show AAGGAAGGGAGGGAGGAAGGAAGGGAGGAAGGAAGGAAGGGAGGGAGGAA GGAAGGAAGGGAGGAAGGAAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGG GAGGAAGAAAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGGGAGGAAGGAA GGGAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGG AAGGAAGGGAGGGAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGGAGGAA GGAAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGAAGGAAGGAAGGGAGG GAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGGAAGGAAGGAAGGGAGGAA GGAAGGGAGGAAGAAAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGGGAGG AAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGA GGAAGGAAGGGAGGAAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGG AAGGAAGGGAGGAAGGAAGGAAGGGAGGAAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA18995.hp1 HG02572.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0044 a0001c0001t0002g0028 a0001c0001t0002g0044	2	62	0.0323	536	c.-36 others(557): Show c.-36+105526_-36+105527insCCCTCCCTTCCTCCCTTCCTTCCT TCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTTC CTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCT CCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTTCCTTCCTTCCTTT CTTCCTCCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCT TCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTCC CTTCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCT CCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTC CTTCCTTCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTTCCTTCCT TCCTTTCTTCCTCCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTTCCTTC CTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTTCCTTCCT CCCTCCCTTCCT	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	6/6			chr9	TogoVar
LMF1_chr16_848634_975984	953545	A A	ACACAGAC others(529): Show ACACAGACCCGAAACCAGCTTCCTACACGTCCACACAGACACCCACCCCG CACCAGCTTCCTACATGTCCACACAGACACCCACCCCGCACCAGCTTCCT ACATGTCCACACAGACACCCACCCCGCACCAGCTTCCTACATGTCCACAC AGACACCCACCCCGCACCAGCTTCCTACATGTCCACACAGACACCCACCC CGCACCAGCTTCCTACACGTCCACACAGACACCCACCCCGCACCAGCTTC CTACACGTCCACACAGACACCCACCCCGCACCAGCTTCCTACACGTCCAC ACAGACACCCACCCCGCACCAGCTTCCTACATGTCCACACAGACACCCAC CCCGCACCAGCTTCCTACATGTCCACACAGACACCCACCCCGCACCAGCT TCCTACATGTCCACACAGACACCCACCCCGCACCAGCTTCCTACATGTCC ACACAGACACCCACCCCGCACCAGCTTCCTACATGTCCACACAGACACCC ACCCCGCACCAGCTTCCTACATGTCCACACAGACACC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0001 a0003c0015t0001	a0003c0015t0001g0011 a0003c0015t0001g0011	1	294	0.0034	536	c.503 others(551): Show c.503+811_503+812insGGTGTCTGTGTGGACATGTAGGAAGCTGGT GCGGGGTGGGTGTCTGTGTGGACATGTAGGAAGCTGGTGCGGGGTGGGTG TCTGTGTGGACATGTAGGAAGCTGGTGCGGGGTGGGTGTCTGTGTGGACA TGTAGGAAGCTGGTGCGGGGTGGGTGTCTGTGTGGACATGTAGGAAGCTG GTGCGGGGTGGGTGTCTGTGTGGACATGTAGGAAGCTGGTGCGGGGTGGG TGTCTGTGTGGACGTGTAGGAAGCTGGTGCGGGGTGGGTGTCTGTGTGGA CGTGTAGGAAGCTGGTGCGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGC TGGTGCGGGGTGGGTGTCTGTGTGGACATGTAGGAAGCTGGTGCGGGGTG GGTGTCTGTGTGGACATGTAGGAAGCTGGTGCGGGGTGGGTGTCTGTGTG GACATGTAGGAAGCTGGTGCGGGGTGGGTGTCTGTGTGGACATGTAGGAA GCTGGTGCGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTTTCGGG TCTGTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	953651	A A	ACACCCAC others(529): Show ACACCCACCCCACACCAGCCTCCTACATGTCCACACAGACACCCACCCCA CACCAGCTTCCTACATATCCACACAGACACCCACCCCACACCAGCTTCCT ACACGTCCACACAGACACCCACCCCACACCAGCCTCCTACACGTCCACAC AGACACCCACCCCACACCAGCCTCCTACACGTCCACACAGACACCCACCC CACACCAGCTTCCTACACGTCCACACAGACACCCACCCCACACCAGCTTC CTACACGTCCACACAGACACCCACCCCACACCAGCTTCCTACACGTCCAC ACAGACACCCACCCCACACCAGCTTCCTACATATCCACACAGACACCCAC CCCACACCAGCCTCCTACACGTCCACACAGACACCCACCCCACACCAGCC TCCTACACGTCCACACAGACACCCACCCCACACCAGCTTCCTGCACGTCC ACACAGACACCCACCCCACACCAGCCTCCTACACGTCCACACAGACACCC ACCCCACACCAGCCTCCTACACGTCCACACAGACACC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0006 a0006	a0006c0048 a0006c0048	a0006c0048t0006 a0006c0048t0006	a0006c0048t0006g0108 a0006c0048t0006g0108	1	294	0.0034	536	c.503 others(551): Show c.503+705_503+706insGGTGTCTGTGTGGACGTGTAGGAGGCTGGT GTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTGGGTG TCTGTGTGGACGTGCAGGAAGCTGGTGTGGGGTGGGTGTCTGTGTGGACG TGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTG GTGTGGGGTGGGTGTCTGTGTGGATATGTAGGAAGCTGGTGTGGGGTGGG TGTCTGTGTGGACGTGTAGGAAGCTGGTGTGGGGTGGGTGTCTGTGTGGA CGTGTAGGAAGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGC TGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTG GGTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTG GACGTGTAGGAAGCTGGTGTGGGGTGGGTGTCTGTGTGGATATGTAGGAA GCTGGTGTGGGGTGGGTGTCTGTGTGGACATGTAGGAGGCTGGTGTGGGG TGGGTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LUC7L_chr16_183990_234449	186594	G G	GGGGAACA others(529): Show GGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGGGAAC AGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGA GGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGAGGGAGGAACAG CGACACGGGAGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGG GAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGG GGAGGAACAGCGACACGGGGAGGAACAGCGACACGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	350	0.0029	536	c.26 others(547): Show c.2603_*2604insTCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCC TCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCG CTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTC GCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCC GTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTC CTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCTCCCGTG TCGCTGTTCCTCCCTCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCC CCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGT TCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTC GCTGTTCCCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCC GTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTC CC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2395		chr16	TogoVar
MBNL3_chrX_132364320_132494038	132396797	C C	CATATATA others(529): Show CATATATATATTCATATATATATTCATATATATTCATATATATATTCATA TATATTCATATATATATTCATATATATTCATATATATATTCATATATATA TTCATATATATATTCATATATATTCATATATATATTCATATATATTCATA TATATATTCATATATATTCATATATATATTCATATATATATTCATATATA TATTCATATATATTCATATATATATTCATATATATATTCATATATATATT CATATATATATTCATATATATATTCATATATATTCATATATATATTCATA TATATATTCATATATATATTCATATATATATTCATATATATATTCATATA TATTCATATATATATTCATATATATATTCATATATATTCATATATATATT CATATATATATTCATATATATTCATATATATTCATATATATATTCATATA TATATATTCATATATATATTCATATATACATATATATATTCATATATATA TTCATATATATATTCATATATACATATATATATTCAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0024 a0001c0001t0042g0024	1	191	0.0052	536	c.343 others(553): Show c.343-4464_343-4463insATGAATATATATATGTATATATGAATAT ATATATGAATATATATATGAATATATATATGTATATATGAATATATATAT GAATATATATATATGAATATATATATGAATATATATGAATATATATGAAT ATATATATGAATATATATATGAATATATATGAATATATATATGAATATAT ATATGAATATATATGAATATATATATGAATATATATATGAATATATATAT GAATATATATATGAATATATATATGAATATATATGAATATATATATGAAT ATATATATGAATATATATATGAATATATATATGAATATATATATGAATAT ATATGAATATATATATGAATATATATATGAATATATATATGAATATATAT GAATATATATATGAATATATATGAATATATATATGAATATATATGAATAT ATATATGAATATATATATGAATATATATATGAATATATATGAATATATAT ATGAATATATATGAATATATATATGAATATATATGAATATATATATGAAT ATATATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MGRN1_chr16_4619826_4695972	4648839	C C	CGGGACTC others(529): Show CGGGACTCTTCCCGTGGTCACCCGGCTCCTCCTCCCGGGGACTCTTCCCG TGGTCACCCGGGTCCTCCTCCCGGGGGCTCTTCCCGTGGTCACCCGGCTC CTCCTCTCGGGGACTCTTCCCGTGGTCACCCGGCTCCTCCTCCCGGGGCT CTTCCCGTGGTCACCCGGCTCCTCCTCCCGGGGACTCTTCCCGTGGTCAC CCGGGTCCTCCTCTCGGGGACTCTTCCCGTGGTCACCCGGGTCCTCCTCC CGGGGGCTCTTCCCGTGGTCACCCGGCTCCTCCTCTCGGGGACTCTTCCC GTGGTCACCCGGGTCCTCCTCCCGGGACTCTTCCCGTGGTCACCCGGCTC CTCCTCCCGGGGACTCTTCCCGTGGTCACCCGGCTCCTCCTCTCGGGGAC TCTTCCCGTGGTCACCCGGGTCCTCCTCCCGGGGACTCTTCCCGTGGTCA CCCGGGTCCTCCTCCCGGGGCTCTTCCCGTGGTCACCCGGGTCCTCCTCC CGGGACTCTTCCCGTGGTCACCCGGCTCCTCCTCTCG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0154 a0001c0001t0006g0154	1	334	0.0030	536	c.89- others(551): Show c.89-1523_89-1522insACTCTTCCCGTGGTCACCCGGCTCCTCCTC CCGGGGACTCTTCCCGTGGTCACCCGGGTCCTCCTCCCGGGGGCTCTTCC CGTGGTCACCCGGCTCCTCCTCTCGGGGACTCTTCCCGTGGTCACCCGGC TCCTCCTCCCGGGGCTCTTCCCGTGGTCACCCGGCTCCTCCTCCCGGGGA CTCTTCCCGTGGTCACCCGGGTCCTCCTCTCGGGGACTCTTCCCGTGGTC ACCCGGGTCCTCCTCCCGGGGGCTCTTCCCGTGGTCACCCGGCTCCTCCT CTCGGGGACTCTTCCCGTGGTCACCCGGGTCCTCCTCCCGGGACTCTTCC CGTGGTCACCCGGCTCCTCCTCCCGGGGACTCTTCCCGTGGTCACCCGGC TCCTCCTCTCGGGGACTCTTCCCGTGGTCACCCGGGTCCTCCTCCCGGGG ACTCTTCCCGTGGTCACCCGGGTCCTCCTCCCGGGGCTCTTCCCGTGGTC ACCCGGGTCCTCCTCCCGGGACTCTTCCCGTGGTCACCCGGCTCCTCCTC TCGGGG	MGRN1	ENSG00000102858.13	transcript	ENST00000262370.12	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
MGRN1_chr16_4619826_4695972	4648839	C C	CGGGACTC others(529): Show CGGGACTCTTCCCGTGGTCACCCGGCTCCTCCTCCCGGGGACTCTTCCCG TGGTCACCCGGGTCCTCCTCCCGGGGGCTCTTCCCGTGGTCACCCGGCTC CTCCTCTCGGGGACTCTTCCCGTGGTCACCCGGCTCCTCCTCCCGGGGCT CTTCCCGTGGTCACCCGGCTCCTCCTCCCGGGGACTCTTCCCGTGGTCAC CCGGGTCCTCCTCTCGGGGACTCTTCCCGTGGTCACCCGGGTCCTCCTCC CGGGGGCTCTTCCCGTGGTCACCCGGCTCCTCCTCTCGGGGACTCTTCCC GTGGTCACCCGGGTCCTCCTCCCGGGACTCTTCCCGTGGTCACCCGGCTC CTCCTCCCGGGGACTCTTCCCGTGGTCACCCGGGTCCTCCTCTCGGGGAC TCTTCCCGTGGTCACCCGGGTCCTCCTCCCGGGGACTCTTCCCGTGGTCA CCCGGGTCCTCCTCCCGGGGCTCTTCCCGTGGTCACCCGGGTCCTCCTCC CGGGACTCTTCCCGTGGTCACCCGGCTCCTCCTCTCG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02965.hp2 HG02622.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0019 a0001c0001t0002 a0001c0001t0019	a0001c0001t0002g0105 a0001c0001t0019g0010 a0001c0001t0002g0105 a0001c0001t0019g0010	2	334	0.0060	536	c.89- others(551): Show c.89-1523_89-1522insACTCTTCCCGTGGTCACCCGGCTCCTCCTC CCGGGGACTCTTCCCGTGGTCACCCGGGTCCTCCTCCCGGGGGCTCTTCC CGTGGTCACCCGGCTCCTCCTCTCGGGGACTCTTCCCGTGGTCACCCGGC TCCTCCTCCCGGGGCTCTTCCCGTGGTCACCCGGCTCCTCCTCCCGGGGA CTCTTCCCGTGGTCACCCGGGTCCTCCTCTCGGGGACTCTTCCCGTGGTC ACCCGGGTCCTCCTCCCGGGGGCTCTTCCCGTGGTCACCCGGCTCCTCCT CTCGGGGACTCTTCCCGTGGTCACCCGGGTCCTCCTCCCGGGACTCTTCC CGTGGTCACCCGGCTCCTCCTCCCGGGGACTCTTCCCGTGGTCACCCGGG TCCTCCTCTCGGGGACTCTTCCCGTGGTCACCCGGGTCCTCCTCCCGGGG ACTCTTCCCGTGGTCACCCGGGTCCTCCTCCCGGGGCTCTTCCCGTGGTC ACCCGGGTCCTCCTCCCGGGACTCTTCCCGTGGTCACCCGGCTCCTCCTC TCGGGG	MGRN1	ENSG00000102858.13	transcript	ENST00000262370.12	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
MGRN1_chr16_4619826_4695972	4648839	C C	CGGGACTC others(529): Show CGGGACTCTTCCCGTGGTCACCCGGCTCCTCCTCCCGGGGACTCTTCCCG TGGTCACCCGGGTCCTCCTCCCGGGGGCTCTTCCCGTGGTCACCCGGCTC CTCCTCTCGGGGACTCTTCCCGTGGTCACCCGGCTCCTCCTCCCGGGGCT CTTCCCGTGGTCACCCGGCTCCTCCTCCCGGGGACTCTTCCCGTGGTCAC CCGGGTCCTCCTCTCGGGGACTCTTCCCGTGGTCACCCGGGTCCTCCTCC CGGGGGCTCTTCCCGTGGTCACCCGGCTCCTCCTCTCGGGGACTCTTCCC GTGGTCACCCGGGTCCTCCTCCCGGGACTCTTCCCGTGGTCACCCGGCTC CTCCTCCCGGGGACTCTTCCCGTGGTCACCCGGGTCCTCCTCTCGGGGAC TCTTCCCGTGGTCACCCGGGTCCTCCTCCCGGGGACTCTTCCCGTGGTCA CCCGGGTCCTCCTCCCGGGGCTCTTCCCGTGGTCACCCGGGTCCTCCTCC CGGGACTCTTCCCGTGGTCACCCGGCTCCTCCTCTTG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0035 a0001c0001t0008g0035	1	334	0.0030	536	c.89- others(551): Show c.89-1523_89-1522insACTCTTCCCGTGGTCACCCGGCTCCTCCTC CCGGGGACTCTTCCCGTGGTCACCCGGGTCCTCCTCCCGGGGGCTCTTCC CGTGGTCACCCGGCTCCTCCTCTCGGGGACTCTTCCCGTGGTCACCCGGC TCCTCCTCCCGGGGCTCTTCCCGTGGTCACCCGGCTCCTCCTCCCGGGGA CTCTTCCCGTGGTCACCCGGGTCCTCCTCTCGGGGACTCTTCCCGTGGTC ACCCGGGTCCTCCTCCCGGGGGCTCTTCCCGTGGTCACCCGGCTCCTCCT CTCGGGGACTCTTCCCGTGGTCACCCGGGTCCTCCTCCCGGGACTCTTCC CGTGGTCACCCGGCTCCTCCTCCCGGGGACTCTTCCCGTGGTCACCCGGG TCCTCCTCTCGGGGACTCTTCCCGTGGTCACCCGGGTCCTCCTCCCGGGG ACTCTTCCCGTGGTCACCCGGGTCCTCCTCCCGGGGCTCTTCCCGTGGTC ACCCGGGTCCTCCTCCCGGGACTCTTCCCGTGGTCACCCGGCTCCTCCTC TTGGGG	MGRN1	ENSG00000102858.13	transcript	ENST00000262370.12	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
MGRN1_chr16_4619826_4695972	4648839	C C	CGGGACTC others(529): Show CGGGACTCTTCCCGTGGTCACCCGGGTCCTCCTCCCGGGGACTCTTCCCG TGGTCACCCGGGTCCTCCTCCCGGGGGCTCTTCCCGTGGTCACCCGGCTC CTCCTCTCGGGGACTCTTCCCGTGGTCACCCGGCTCCTCCTCCCGGGGCT CTTCCCGTGGTCACCCGGCTCCTCCTCCCGGGGACTCTTCCCGTGGTCAC CCGGGTCCTCCTCTCGGGGACTCTTCCCGTGGTCACCCGGGTCCTCCTCC CGGGGGCTCTTCCCGTGGTCACCCGGCTCCTCCTCTCGGGGACTCTTCCC GTGGTCACCCGGGTCCTCCTCCCGGGACTCTTCCCGTGGTCACCCGGCTC CTCCTCCCGGGGACTCTTCCCGTGGTCACCCGGGTCCTCCTCTCGGGGAC TCTTCCCGTGGTCACCCGGGTCCTCCTCCCGGGGACTCTTCCCGTGGTCA CCCGGGTCCTCCTCCCGGGGCTCTTCCCGTGGTCACCCGGGTCCTCCTCC CGGGACTCTTCCCGTGGTCACCCGGCTCCTCCTCTCG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0011 a0001c0001t0004g0011	1	334	0.0030	536	c.89- others(551): Show c.89-1523_89-1522insACTCTTCCCGTGGTCACCCGGGTCCTCCTC CCGGGGACTCTTCCCGTGGTCACCCGGGTCCTCCTCCCGGGGGCTCTTCC CGTGGTCACCCGGCTCCTCCTCTCGGGGACTCTTCCCGTGGTCACCCGGC TCCTCCTCCCGGGGCTCTTCCCGTGGTCACCCGGCTCCTCCTCCCGGGGA CTCTTCCCGTGGTCACCCGGGTCCTCCTCTCGGGGACTCTTCCCGTGGTC ACCCGGGTCCTCCTCCCGGGGGCTCTTCCCGTGGTCACCCGGCTCCTCCT CTCGGGGACTCTTCCCGTGGTCACCCGGGTCCTCCTCCCGGGACTCTTCC CGTGGTCACCCGGCTCCTCCTCCCGGGGACTCTTCCCGTGGTCACCCGGG TCCTCCTCTCGGGGACTCTTCCCGTGGTCACCCGGGTCCTCCTCCCGGGG ACTCTTCCCGTGGTCACCCGGGTCCTCCTCCCGGGGCTCTTCCCGTGGTC ACCCGGGTCCTCCTCCCGGGACTCTTCCCGTGGTCACCCGGCTCCTCCTC TCGGGG	MGRN1	ENSG00000102858.13	transcript	ENST00000262370.12	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
MGRN1_chr16_4619826_4695972	4648839	C C	CGGGACTC others(529): Show CGGGACTCTTCCCGTGGTCACCCGGGTCCTCCTCCCGGGGACTCTTCCCG TGGTCACCCGGGTCCTCCTCCCGGGGGCTCTTCCCGTGGTCACCCGGCTC CTCCTCTCGGGGACTCTTCCCGTGGTCACCCGGCTTCTCCTCCCGGGGCT CTTCCCGTGGTCACCCGGCTCCTCCTCCCGGGGACTCTTCCCGTGGTCAC CCGGGTCCTCCTCTCGGGGACTCTTCCCGTGGTCACCCGGGTCCTCCTCC CGGGGGCTCTTCCCGTGGTCACCCGGCTCCTCCTCTCGGGGACTCTTCCC GTGGTCACCCGGGTCCTCCTCCCGGGACTCTTCCCGTGGTCACCCGGCTC CTCCTCCCGGGGACTCTTCCCGTGGTCACCCGGGTCCTCCTCTCGGGGAC TCTTCCCGTGGTCACCCGGGTCCTCCTCCCGGGGACTCTTCCCGTGGTCA CCCGGGTCCTCCTCCCGGGGCTCTTCCCGTGGTCACCCGGGTCCTCCTCC CGGGACTCTTCCCGTGGTCACCCGGCTCCTCCTCTCG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02886.hp2 HG02970.hp2 HG02615.hp2 HG02886.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0033 a0001c0001t0014 a0001c0001t0033	a0001c0001t0014g0019 a0001c0001t0014g0020 a0001c0001t0033g0021 a0001c0001t0014g0019 a0001c0001t0014g0020 a0001c0001t0033g0021	3	334	0.0090	536	c.89- others(551): Show c.89-1523_89-1522insACTCTTCCCGTGGTCACCCGGGTCCTCCTC CCGGGGACTCTTCCCGTGGTCACCCGGGTCCTCCTCCCGGGGGCTCTTCC CGTGGTCACCCGGCTCCTCCTCTCGGGGACTCTTCCCGTGGTCACCCGGC TTCTCCTCCCGGGGCTCTTCCCGTGGTCACCCGGCTCCTCCTCCCGGGGA CTCTTCCCGTGGTCACCCGGGTCCTCCTCTCGGGGACTCTTCCCGTGGTC ACCCGGGTCCTCCTCCCGGGGGCTCTTCCCGTGGTCACCCGGCTCCTCCT CTCGGGGACTCTTCCCGTGGTCACCCGGGTCCTCCTCCCGGGACTCTTCC CGTGGTCACCCGGCTCCTCCTCCCGGGGACTCTTCCCGTGGTCACCCGGG TCCTCCTCTCGGGGACTCTTCCCGTGGTCACCCGGGTCCTCCTCCCGGGG ACTCTTCCCGTGGTCACCCGGGTCCTCCTCCCGGGGCTCTTCCCGTGGTC ACCCGGGTCCTCCTCCCGGGACTCTTCCCGTGGTCACCCGGCTCCTCCTC TCGGGG	MGRN1	ENSG00000102858.13	transcript	ENST00000262370.12	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
MMD2_chr7_4900998_4964187	4959821	G G	GGGTGGAG others(529): Show GGGTGGAGGGAGTGGAAAGTGGGGGGTTGGGGGGAGTGGGGGACCTGGGG GTGGAGGAAGTGGGGGGTTCGTGGGAAGAAGGGGACCTGGAGGTGGAGGG AGTGGGAAGTCGGGGTGTTGGGGGGGGAGTGAGGGGGTTAGTGGGAAGAG AGGGACTTGGAGGTTGGGGGAGTGGGAAGTGGGGGTGTTGGAGGGAGTGG GGGACCTGGGGGTGGGGGGAGTGGGAAGTGGGGGTGTTGGGGGGGGAGTG AGGGGGTTAGTGGGAAGAGAGGGACTTGGAGGTTGGGGGAGTGGGAAGTG GGGGTGTTGGAGGGAGTGGGGGACCTGGGGGTGGAGGGAGTGGGAAGTGG GGGTGTTGGGGGGGGAGTGAGGGGGTTAGTGGGAAGAGAGGGACTTGGAG GTTGGGGGAGTGGGAAGTGGGGGTGTTGGAGGGAGTGGGGGACCTGGGGG TGGAGGGAGTGGGAAGTGGGGGTGTTGGGGGGGGAGTGAGGGGGTTAGTG GGAAGAGAGGGACTTGGAGGTTGGGGGAGTGGGAAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0041 a0001c0002t0009g0041	1	382	0.0026	536	c.-80 others(545): Show c.-805_-804insACTTCCCACTCCCCCAACCTCCAAGTCCCTCTCTTC CCACTAACCCCCTCACTCCCCCCCCAACACCCCCACTTCCCACTCCCTCC ACCCCCAGGTCCCCCACTCCCTCCAACACCCCCACTTCCCACTCCCCCAA CCTCCAAGTCCCTCTCTTCCCACTAACCCCCTCACTCCCCCCCCAACACC CCCACTTCCCACTCCCTCCACCCCCAGGTCCCCCACTCCCTCCAACACCC CCACTTCCCACTCCCCCAACCTCCAAGTCCCTCTCTTCCCACTAACCCCC TCACTCCCCCCCCAACACCCCCACTTCCCACTCCCCCCACCCCCAGGTCC CCCACTCCCTCCAACACCCCCACTTCCCACTCCCCCAACCTCCAAGTCCC TCTCTTCCCACTAACCCCCTCACTCCCCCCCCAACACCCCGACTTCCCAC TCCCTCCACCTCCAGGTCCCCTTCTTCCCACGAACCCCCCACTTCCTCCA CCCCCAGGTCCCCCACTCCCCCCAACCCCCCACTTTCCACTCCCTCCACC	MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding		635		chr7	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(529): Show TCTGCTCTCCCCTCCCCTCTTCCCTCCCCTCTCCCCTCCCCCTCCCCCCT CCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTC CCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCCGTC TCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCTCCCCTCCTCCCCTCCCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCCCTCCTCCCCTCCTCCC CTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCTTCCCCTCCT CCCCTCCTCCCCTCATCCCCTCCCCTCCTCCCCTCGTCCCCTCCCCTCCT CCCCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCT CCCCTCGTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02572.hp1 HG02280.hp1 HG02572.hp1	a0002 a0007 a0002 a0007	a0002c0013 a0007c0012 a0002c0013 a0007c0012	a0002c0013t0001 a0007c0012t0001 a0002c0013t0001 a0007c0012t0001	a0002c0013t0001g0022 a0007c0012t0001g0024 a0002c0013t0001g0022 a0007c0012t0001g0024	2	140	0.0143	536	c.114 others(555): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCTTCCCTCCCC TCTCCCCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCT CTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCC CCTCCCGTCTCCCCTCCCGTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCCCCTCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCT CCCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCTTCCCCTCCTCCCCTCCTCCCCTCATCCCCTCCCCTCCT CCCCTCGTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCC CTCCTCCCCTCCTCCCCTCCTCCCCTCGTCCCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(529): Show TCTGCTCTCCCCTCCCCTCTTCCCTCCCCTCTCCCCTCCCCCTCCCCCCT CCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTC CCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCCGTC TCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCTTCCTCCCCT CCTCCCCTCCTCCCCTCCCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCCCTCCTCCCCTCCTCCC CTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCTTCCCCTCCT CCCCTCCTCCCCTCATCCCCTCCCCTCCTCCCCTCGTCCCCTCCCCTCCT CCCCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCT CCCCTCGTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0131 a0002c0004t0001g0131	1	140	0.0071	536	c.114 others(555): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCTTCCCTCCCC TCTCCCCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCT CTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCC CCTCCCGTCTCCCCTCCCGTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCTTCCTCCCCTCCTCCCCTCCTCCCCTCCCCCCCTCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCT CCCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCTTCCCCTCCTCCCCTCCTCCCCTCATCCCCTCCCCTCCT CCCCTCGTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCC CTCCTCCCCTCCTCCCCTCCTCCCCTCGTCCCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MTTP_chr4_99569824_99628997	99588981	A A	ACATATAT others(529): Show ACATATATATGTTCATATATATATTCATATATATATGTTCATGTATATTC ATATATATATGTTCATATATATATTCATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0057 a0004c0004t0001g0057	1	364	0.0028	536	c.394 others(551): Show c.394-653_394-652insGTTCATATATATATTCATATATATATGTTC ATGTATATTCATATATATATGTTCATATATATATTCATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTTP_chr4_99569824_99628997	99588981	A A	ATATATAT others(529): Show ATATATATATGTTCATGTATATTCATATATATATGTTCATATATATATTC ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0278 a0002c0002t0002g0278	1	364	0.0028	536	c.394 others(551): Show c.394-662_394-661insTATATATATGTTCATGTATATTCATATATA TATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATATTCATATATATATGTTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATA TATATTCATATATATGTTCATATATATATTCATATATATATGTTCATATA TATATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MTTP_chr4_99569824_99628997	99589009	A A	ACATATAT others(529): Show ACATATATATGTTCATATATATACTCATATATATATGTTCATATATATAC TCATATATATGTTCATATATATACTCATATATATGTTCATATATATACTC ATATATATGTTCATATATATACTCATATATATGTTCATATATATACTCAT ATATATGTTCATATATATACTCATATATATGTTCATATATATACTCATAT ATATGTTCATATATATACTCATATATATGTTCATATATATACTCATATAT ATGTTCATATATATACTCATATATATGTTCATATATATACTCATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATGTTCATATATATATATGTT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0124 a0005c0005t0001g0124	1	364	0.0028	536	c.394 others(551): Show c.394-611_394-610insTCATATATATATGTTCATATATATACTCAT ATATATGTTCATATATATACTCATATATATGTTCATATATATACTCATAT ATATGTTCATATATATACTCATATATATGTTCATATATATACTCATATAT ATGTTCATATATATACTCATATATATGTTCATATATATACTCATATATAT GTTCATATATATACTCATATATATGTTCATATATATACTCATATATATGT TCATATATATACTCATATATATGTTCATATATATACTCATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATGTTCATATATATATATGTTCATATATATGTTCATAT ATATAC	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ATATATAT others(529): Show ATATATATATGTTCATGTATATTCATATATATATGTTCATATATATATTC ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0174 a0002c0002t0002g0174	1	364	0.0028	536	c.394 others(551): Show c.394-608_394-607insTATATATATGTTCATGTATATTCATATATA TATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATATTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATATTCATATATATATGTTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATA TATATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ATATATAT others(529): Show ATATATATATGTTCATGTATATTCATATATATATGTTCATATATATATTC ATATATATGTTCATATATATATTCATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0049 a0004c0004t0001g0049	1	364	0.0028	536	c.394 others(551): Show c.394-608_394-607insTATATATATGTTCATGTATATTCATATATA TATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATA TGTTCATATATATATTCATATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATATTCATATATATATGTTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATA TATATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(529): Show AATATATATATTTAAATATAAGTATATATAAATATATATATTTAAATATA AGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAATATA TATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAGTA TATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATATATT TCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATA AAAATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAATA TAAGTATGTATAAATATATATATTTCAATATAAGTATATATAAAAATATA TATATTTCAATATAAGTATATATAAAAATATATATATTTAAATATAAGTA TATATAAAAATATATATATTTAAATATAAGTATATATAAAAATATATATA TTTAAATATAAGTATATATAAAAATATATATATTTAAATGTAAGTATATA TAAATATATATATTTAAATATAAGTATATATATAAAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0129 a0001c0002t0023g0129	1	326	0.0031	536	c.358 others(553): Show c.358+3191_358+3192insATTTAAATATAAGTATATATAAATATAT ATATTTAAATATAAGTATGTATATAAATATATATATTTCAATATAAGTAT GTATATAAATATATATATTTCAATATAAGTATGTATATAAATATATATAT TTCAATATAAGTATATAAAAATATATATATTTCAATATAAGTATATATAA AAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTTCAAT ATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAAATAT ATATATTTCAATATAAGTATGTATAAATATATATATTTCAATATAAGTAT ATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATATAT TTAAATATAAGTATATATAAAAATATATATATTTAAATATAAGTATATAT AAAAATATATATATTTAAATATAAGTATATATAAAAATATATATATTTAA ATGTAAGTATATATAAATATATATATTTAAATATAAGTATATATATAAAT ATATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690514	A A	ATATATAT others(529): Show ATATATATTTAAATATAAGTATGTATATAAATATATATATTTCAATATAA GTATGTATATAAATATATATATTTCAATATAAGTATATAAAAATATATAT ATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTATGT ATAAAAATATATATATTTCATATAAGTATGTATAAAAATATATATATTTC AATATAAGTATGTATAAATATATATATTTCAATATAAGTATGTATAAATA TATATTTCAATATAAGTATATATAAAAATATATATATTTAAATATAAGTA TATATAAAAATATATATATTTAAATATAAGTATATATAAAAATATATATA TTTAAATATAAGTATATATAAAAATATATATATTTAAATATAAGTATATA TAAAAATATATATATTTAAATATAAGTATATATAAAAATATATATATTTA AATATAAGTATATATAAAAATATATATATTTAAATATAAGTATATATAAA TATATATATTTAAATATAAGTATATATATAAAAATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0175 a0001c0001t0009g0175	1	326	0.0031	536	c.358 others(553): Show c.358+3251_358+3252insATTTAAATATAAGTATGTATATAAATAT ATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAGT ATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATATAT TTCAATATAAGTATGTATAAAAATATATATATTTCATATAAGTATGTATA AAAATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAATA TAAGTATGTATAAATATATATTTCAATATAAGTATATATAAAAATATATA TATTTAAATATAAGTATATATAAAAATATATATATTTAAATATAAGTATA TATAAAAATATATATATTTAAATATAAGTATATATAAAAATATATATATT TAAATATAAGTATATATAAAAATATATATATTTAAATATAAGTATATATA AAAATATATATATTTAAATATAAGTATATATAAAAATATATATATTTAAA TATAAGTATATATAAATATATATATTTAAATATAAGTATATATATAAAAA TATTATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690701	T T	TATATATA others(529): Show TATATATATTTATATATAAGTATATATATAAATATATATATTTATATATA AGTATATATATATATATTTATATATAAGTATATATAAATATATATATTTA TATATAAGTATATATATATATTTATATATAAGTATATATATATTTATATA TAAGTATATATATATATTTATATATAAGTATATATATAAATATATATATT TATATATAAGTATATATATAAATATATATATTTATATATAAGTATATATA TATTTATATATAAGTATATATAAATATATATATTTATATATAAGTGTATA TATATAAATATATATATTTATATAGAAGTATATATAAATATATATATTTA TATATAAGTATATATAAATATATATATTTAAATATAAGTATATATAAATA TATATATTTAAATATAAGTATATATATAAATATATATTTAAATATAAGTA TATATATAAATATATATTTAAATATAAGTATATATATAAATATAAGTATA TATATAAATATATATTTAAATATAAGTATATATATAA	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18944.hp2 NA18947.hp1 others(6): Show NA18942.hp2 NA18944.hp2 NA18947.hp1 NA18948.hp2 NA18989.hp2 NA19004.hp2 NA19062.hp1 NA19084.hp1 NA19087.hp1	a0001 a0004 a0006 others(1): Show a0001 a0004 a0006 a0015	a0001c0002 a0004c0006 a0006c0009 others(1): Show a0001c0002 a0004c0006 a0006c0009 a0015c0017	a0001c0002t0002 a0001c0002t0008 a0004c0006t0004 others(2): Show a0001c0002t0002 a0001c0002t0008 a0004c0006t0004 a0006c0009t0007 a0015c0017t0002	a0001c0002t0002g0111 a0001c0002t0008g0075 a0001c0002t0008g0114 others(6): Show a0001c0002t0002g0111 a0001c0002t0008g0075 a0001c0002t0008g0114 a0004c0006t0004g0110 a0004c0006t0004g0113 a0006c0009t0007g0019 a0006c0009t0007g0067 a0006c0009t0007g0069 a0015c0017t0002g0112	9	326	0.0276	536	c.358 others(553): Show c.358+3444_358+3445insTATATAAGTATATATATAAATATATATA TTTATATATAAGTATATATATATATATTTATATATAAGTATATATAAATA TATATATTTATATATAAGTATATATATATATTTATATATAAGTATATATA TATTTATATATAAGTATATATATATATTTATATATAAGTATATATATAAA TATATATATTTATATATAAGTATATATATAAATATATATATTTATATATA AGTATATATATATTTATATATAAGTATATATAAATATATATATTTATATA TAAGTGTATATATATAAATATATATATTTATATAGAAGTATATATAAATA TATATATTTATATATAAGTATATATAAATATATATATTTAAATATAAGTA TATATAAATATATATATTTAAATATAAGTATATATATAAATATATATTTA AATATAAGTATATATATAAATATATATTTAAATATAAGTATATATATAAA TATAAGTATATATATAAATATATATTTAAATATAAGTATATATATAAATA TATATTTA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
NOP14_chr4_2932936_2968406	2961280	A A	ATATAGTA others(529): Show ATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACT ATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATATA GTTAGTATATTAATATATAGTAACTATATTAATATAGTTAGTATATTAAT ATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACT ATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAAT ATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTAT ATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATA GTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATT AATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGT TAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAA TATATAGTAACTATATTAATAATATAGTTAGTATATT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0263 a0002c0002t0001g0263	1	422	0.0024	536	c.195 others(553): Show c.195+1844_195+1845insAATATACTAACTATATTATTAATATAGT TACTATATATTAATATACTAACTATATTATTAATATAGTTACTATATATT AATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAAC TATATTATTAATATAGTTACTATATATTAATATACTAACTATATTATTAA TATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTTACTA TATATTAATATACTAACTATATTATTAATATAGTTACTATATATTAATAT ACTAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATAT TATTAATATAGTTACTATATATTAATATACTAACTATATTATTAATATAG TTACTATATATTAATATACTAACTATATTAATATAGTTACTATATATTAA TATACTAACTATATTAATATAGTTACTATATATTAATATACTAACTATAT TATTAATATAGTTACTATATATTAATATACTAACTATATTATTAATATAG TTACTATA	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar
NOTCH1_chr9_136489433_136551048	136535462	G G	GGTGGGGG others(529): Show GGTGGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGT GGGTGGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAG TGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAATG GGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGG GGCAATGAGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCA GGGGCAATGAGTGCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCA GGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCC CAGGGGCAATGGGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGG ATCCCTCCCGGGGCAATGAGTGCAGGGTGGGTGGAGAGGGGAGCACTCAG GATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02109.hp2 HG02572.hp1 others(4): Show HG01074.hp2 HG02109.hp2 HG02572.hp1 HG02965.hp2 HG02976.hp2 HG03471.hp2 NA18906.hp2	a0001 a0001	a0001c0016 a0001c0026 a0001c0058 a0001c0016 a0001c0026 a0001c0058	a0001c0016t0004 a0001c0016t0012 a0001c0016t0020 others(2): Show a0001c0016t0004 a0001c0016t0012 a0001c0016t0020 a0001c0026t0015 a0001c0058t0021	a0001c0016t0004g0039 a0001c0016t0012g0015 a0001c0016t0012g0018 others(4): Show a0001c0016t0004g0039 a0001c0016t0012g0015 a0001c0016t0012g0018 a0001c0016t0020g0016 a0001c0026t0015g0014 a0001c0026t0015g0019 a0001c0058t0021g0017	7	324	0.0216	536	c.140 others(553): Show c.140+8561_140+8562insTCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCC GGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCA TTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACC CATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACT CATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCA CTCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCA CCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCTCTCCACC CACCCTGCACTCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCAC CCACTCCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCC CCCCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCC CCCCCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar

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Search Results (Total: 10000 hits)