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
GRTP1_chr13_113319163_113369130	113346907	T T	TGAGAGCA others(527): Show TGAGAGCAGACCCGGGAGGACCTCTGTGGCCGAGAGCAGACCTGGGAGGA CCTCTGTGGCCGAGAGCGGACCCAGGAGCACCTCTGTGGCTGAGCGGATC CGGGAGGACCTCTGTGGCAAAGAGCAGACCCAGGAGGACCTCTGTGCCTG ACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAACAGACCCGGGAGGACC TCTGTGGCCGAGAACAGATCCGGGAGGACCTCTGTGGCCGAGAGCAGACC CAGGAGGACCTCTGTGGCTGAGAGCGGACCCGGGAGGACCTCTGTGGCTG AGCGGATCTGGGAGGACCTCTGTGGCTGAGAACAGACCCGGGAGGACCTC TGTGGCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCAGACCCA GGAGCACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAG CGGATCTGGGAGGACCTCTGTGGCTGAGAACAGACCCGGGAGGACCTCTG TGGCCGAGAACAGATCCGGGAGGACCTCTGAAGCC	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	288	0.0035	534	c.466 others(551): Show c.466-1949_466-1948insGGCTTCAGAGGTCCTCCCGGATCTGTTC TCGGCCACAGAGGTCCTCCCGGGTCTGTTCTCAGCCACAGAGGTCCTCCC AGATCCGCTCAGCCACAGAGGTCCTCCCGGGTCCACTGTCAGGCACAGAG GTGCTCCTGGGTCTGCTCTCAGCCACAGAGGTCCTCCCGGGTCCACTGTC AGCCACAGAGGTCCTCCCGGGTCTGTTCTCAGCCACAGAGGTCCTCCCAG ATCCGCTCAGCCACAGAGGTCCTCCCGGGTCCGCTCTCAGCCACAGAGGT CCTCCTGGGTCTGCTCTCGGCCACAGAGGTCCTCCCGGATCTGTTCTCGG CCACAGAGGTCCTCCCGGGTCTGTTCTCAGCCACAGAGGTCCTCCCGGGT CCACTGTCAGGCACAGAGGTCCTCCTGGGTCTGCTCTTTGCCACAGAGGT CCTCCCGGATCCGCTCAGCCACAGAGGTGCTCCTGGGTCCGCTCTCGGCC ACAGAGGTCCTCCCAGGTCTGCTCTCGGCCACAGAGGTCCTCCCGGGTCT GCTCTC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
HIVEP3_chr1_41501365_41923922	41544699	T T	TCACCACC others(527): Show TCACCACCACCACCACTACCACCTGTACCACCACCGCTACCATCACCACC ACTACCACCACCATCACCACCACTACCACTACCTCTACCTCCACTGCTAC CATCACCACCACCACTACCACCTCTACCACCACCATCATCACCACCACTA CCACCTCTACCACCACCATCACCACCACCACCACCATCACCTCTACCACC ACCATCACCACCACCACCACCATCACCACCTCTACCACCACCACCACCAC CACCACTACCACCTCTACCACCACCACCACCACCACCACTACCACCTCTA CCACCTCTACCACCACCACCACCATCACCTCTACCACCACCATCACCACC ACCATCACCACCACCTCTACCACCACCATCACCACCACCACCACCACCAC CTCTACCACCACCATCACCTCTACCACCACCATCACCACCACCACCACCA TCACCTCTACCACCACCATCACCTCTACCACCACCATCACCACCACCACC ACCATCACCACCTCTACCACCACTGCTACCATCAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA19084.hp1 HG00621.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0018 a0001c0001t0002 a0001c0001t0018	a0001c0001t0002g0011 a0001c0001t0018g0120 a0001c0001t0002g0011 a0001c0001t0018g0120	2	134	0.0149	534	c.520 others(555): Show c.5208-19790_5208-19789insGTGATGGTAGCAGTGGTGGTAGAG GTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGATGGTGGT GGTAGAGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGATGG TGGTGGTAGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTG GTGGTGATGGTGGTGGTGATGGTGGTGGTAGAGGTGATGGTGGTGGTGGT GGTAGAGGTGGTAGAGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTAGAGG TGGTAGTGGTGGTGGTGGTGGTGGTGGTAGAGGTGGTGATGGTGGTGGTG GTGGTGATGGTGGTGGTAGAGGTGATGGTGGTGGTGGTGGTGATGGTGGT GGTAGAGGTGGTAGTGGTGGTGATGATGGTGGTGGTAGAGGTGGTAGTGG TGGTGGTGATGGTAGCAGTGGAGGTAGAGGTAGTGGTAGTGGTGGTGATG GTGGTGGTAGTGGTGGTGATGGTAGCGGTGGTGGTACAGGTGGTAGTGGT GGTGGTGGTG	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
HIVEP3_chr1_41501365_41923922	41544699	T T	TCACCACC others(527): Show TCACCACCACCACCACTACCACCTGTACCACCACTGCTACCATCACCACC ACTACCACCACCATCACCACCACTACCACTACCTCTACCTCCACTGCTAC CATCACCACCACCACTACCACCTCTACCACCACCATCATCACCACCACTA CCACCTCTACCACCACCATCACCACCACCACCACCATCACCTCTACCACC ACCATCACCACCACCACCACCATCACCACCTCTACCACCACCACCACCAC CACCACTACCACCTCTACCACCACCACCACCACCACCACTACCACCTCTA CCACCTCTACCACCACCACCACCATCACCTCTACCACCACCATCACCACC ACCATCACCACCACCTCTACCACCACCATCACCACCACCACCACCACCAC CTCTACCACCACCATCACCTCTACCACCACCATCACCACCACCACCACCA TCACCTCTACCACCACCATCACCTCTACCACCACCATCACCACCACCACC ACCATCACCACCTCTACCACCACTGCTACCATCAC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00673.hp1 HG01255.hp2 others(10): Show HG00621.hp2 HG00673.hp1 HG01255.hp2 HG01261.hp2 HG01358.hp2 HG01496.hp2 HG02004.hp2 HG02040.hp2 NA18945.hp2 NA18946.hp2 NA18961.hp1 NA18961.hp2 NA19076.hp2	a0001 a0030 a0001 a0030	a0001c0001 a0001c0032 a0030c0034 a0001c0001 a0001c0032 a0030c0034	a0001c0001t0001 a0001c0001t0017 a0001c0001t0064 others(5): Show a0001c0001t0001 a0001c0001t0017 a0001c0001t0064 a0001c0001t0072 a0001c0001t0074 a0001c0001t0077 a0001c0032t0075 a0030c0034t0011	a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0062 others(10): Show a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0062 a0001c0001t0001g0109 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0017g0118 a0001c0001t0064g0111 a0001c0001t0072g0006 a0001c0001t0074g0106 a0001c0001t0077g0131 a0001c0032t0075g0069 a0030c0034t0011g0101	13	134	0.0970	534	c.520 others(555): Show c.5208-19790_5208-19789insGTGATGGTAGCAGTGGTGGTAGAG GTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGATGGTGGT GGTAGAGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGATGG TGGTGGTAGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTG GTGGTGATGGTGGTGGTGATGGTGGTGGTAGAGGTGATGGTGGTGGTGGT GGTAGAGGTGGTAGAGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTAGAGG TGGTAGTGGTGGTGGTGGTGGTGGTGGTAGAGGTGGTGATGGTGGTGGTG GTGGTGATGGTGGTGGTAGAGGTGATGGTGGTGGTGGTGGTGATGGTGGT GGTAGAGGTGGTAGTGGTGGTGATGATGGTGGTGGTAGAGGTGGTAGTGG TGGTGGTGATGGTAGCAGTGGAGGTAGAGGTAGTGGTAGTGGTGGTGATG GTGGTGGTAGTGGTGGTGATGGTAGCAGTGGTGGTACAGGTGGTAGTGGT GGTGGTGGTG	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
HIVEP3_chr1_41501365_41923922	41544908	A A	ACCACCAT others(527): Show ACCACCATCACCACCTCTACCACCTCTACCACCACGACCACCACTACCAC CTCTACCACCACCATCACCACCACCACCACCATCACCACCTCTACCACCA CCATCACCACCACCACTATCACCACCTCTACCACCACCATCACCACCACC ACCACCACCACCTCTACCACCACCATCACCACCACCACTACCACCACCAC CACCACCACCACCACCACTACCACCTCTACCACCTCTACCACCACTACCA CCTCTACCACCTCTACCACCACCATCATCACCACCACCACTACCACCTCT ACCACCTCTACCACCACGACCACCACTACCACCTCTACCACCACCATCAC CACCACCACCACCATCACCACCTCTACCACCACCATCACCACCACCACTA TCACCACCTCTACCACCACCATCACCACCACCACCACTACCACCTCTACC ACCACCATCACCACCACCACTACCACCACCACCACCACCACCACCACCAC TACCACCTCTACCACCTCTACCACCACTACCACCT	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0111 a0001c0001t0064g0111	1	134	0.0075	534	c.520 others(555): Show c.5208-19999_5208-19998insAGGTGGTAGTGGTGGTAGAGGTGG TAGAGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTG GTGATGGTGGTGGTAGAGGTGGTAGTGGTGGTGGTGGTGATGGTGGTGGT AGAGGTGGTGATAGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGATGG TGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTAGTGGTGGTCGTGGTG GTAGAGGTGGTAGAGGTGGTAGTGGTGGTGGTGATGATGGTGGTGGTAGA GGTGGTAGAGGTGGTAGTGGTGGTAGAGGTGGTAGAGGTGGTAGTGGTGG TGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGATGGTGGTGGTAGAG GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGATAGTGGT GGTGGTGATGGTGGTGGTAGAGGTGGTGATGGTGGTGGTGGTGGTGATGG TGGTGGTAGAGGTGGTAGTGGTGGTCGTGGTGGTAGAGGTGGTAGAGGTG GTGATGGTGG	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
HPCAL1_chr2_10297904_10432604	10399225	A A	ACCACCGC others(527): Show ACCACCGCCGCTGCCGCTACCACCATCACCACCACCACCACCACCACCAC CACCACCACCACCACCATCACCATCATCACCACCACCACCACCACCACCA TCACCACCACCACCATCACCGCCACCACCATCACCATCACCACCACCACC ACCACCACCATCACCACCACCACCACCACCATCACCATCACCGCCACCAC CATCACCACCACCACCACCACCACCACCACCACCATCACCATCATCACCA CCACCACCACCACCACCACCACCATCACCATCATCACCACCACCACCACC ACCACCGCCACCACCACCACCATCACCGCCACCACCATCACCATCACCAC CACCACCACCACCACCACCACCACCACCATCACCATCATCACCACCACCA CCACCACCACCACCACCATCACCATCATCACCACCACCACCACCACCACC GCCACCACCACCACCATCACCGCCACCACCATCACCATCACCACCACCAC CACCACCACCACCACCACCACCACCACCACCACCG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	314	0.0032	534	c.-25 others(551): Show c.-25+2310_-25+2311insGCCGCTGCCGCTACCACCATCACCACCA CCACCACCACCACCACCACCACCACCACCACCATCACCATCATCACCACC ACCACCACCACCACCATCACCACCACCACCATCACCGCCACCACCATCAC CATCACCACCACCACCACCACCACCATCACCACCACCACCACCACCATCA CCATCACCGCCACCACCATCACCACCACCACCACCACCACCACCACCACC ATCACCATCATCACCACCACCACCACCACCACCACCACCATCACCATCAT CACCACCACCACCACCACCACCGCCACCACCACCACCATCACCGCCACCA CCATCACCATCACCACCACCACCACCACCACCACCACCACCACCATCACC ATCATCACCACCACCACCACCACCACCACCACCATCACCATCATCACCAC CACCACCACCACCACCGCCACCACCACCACCATCACCGCCACCACCATCA CCATCACCACCACCACCACCACCACCACCACCACCACCACCACCACCACC GCCACC	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
IFFO2_chr1_18899280_18961676	18925894	T T	TGGTTGGA others(527): Show TGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATT GGTTGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGT TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATG GATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGG ATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGAT GGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATTGGTTGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGTTGGATGGATGGA	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	376	0.0027	534	c.666 others(551): Show c.666-4774_666-4773insTCCATCCATCCAACCATCCATCCATCCA TCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCAACCA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATC CATCCATCCATCCAACCATCCATCCATCCATCCAACCAATCCATCCATCC ATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCAACCAACCAATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCA TCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCAACC	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925894	T T	TGGTTGGA others(527): Show TGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATT GGTTGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGTTGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATG GATGGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGATGG ATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGATGGTTGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGTTGGATGGATGGA	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0013 a0001c0001t0017g0013	1	376	0.0027	534	c.666 others(551): Show c.666-4774_666-4773insTCCATCCATCCAACCATCCATCCATCCA TCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCA ACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATC CATCCATCCATCCATCCAACCATCCATCCATCCATCCAACCAATCCATCC ATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCAACCAACCAATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCA TCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCAACC	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IL1RAPL2_chrX_104561199_105772829	105307514	T T	TATATATA others(527): Show TATATATATTTTATATTATATATATTATATATAATATATATATTTTATAT TATATATATTATATATAATATATATATTTTATATTATATATATTATATAT AATATATATATTTTATATTATATATATTATATATAATATATATATTTTAT ATTATATATATTATATATAATATATATATTTTATATTATATATATTATAT ATAATATATATATTTTATATTATATATATTATATATAATATATATATTTT ATATTATATATATTATATATAATATATATATTTTATATTATATATATTAT ATATAATATATATATTTTATATTATATATATTATATATAATATATATATT TTATATTATATATATTATATATAATATATATATTTTATATTATATATATT ATATATAATATATATTTTATATTATATATATTATATATAATATATATTTT ATATTATATATATTATATATAATATATATTTTATATTATATATATTATAT ATAATATATATTTTATATTATATATATTATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	141	0.0071	534	c.697 others(553): Show c.697+40013_697+40014insATTTTATATTATATATATTATATATA ATATATATATTTTATATTATATATATTATATATAATATATATATTTTATA TTATATATATTATATATAATATATATATTTTATATTATATATATTATATA TAATATATATATTTTATATTATATATATTATATATAATATATATATTTTA TATTATATATATTATATATAATATATATATTTTATATTATATATATTATA TATAATATATATATTTTATATTATATATATTATATATAATATATATATTT TATATTATATATATTATATATAATATATATATTTTATATTATATATATTA TATATAATATATATATTTTATATTATATATATTATATATAATATATATTT TATATTATATATATTATATATAATATATATTTTATATTATATATATTATA TATAATATATATTTTATATTATATATATTATATATAATATATATTTTATA TTATATATATTATATATAATATATATTTTATATTATATATATTATATATA ATATATAT	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GAGGGGCA others(527): Show GAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAT GGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGG CAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAG GGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAG AGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGA GGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAG GGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGA GGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGG CAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAG GACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGC AGGGAGGAGAGAGGGGCAAGGAGGAGGGGCAGGGA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	204	0.0049	534	c.978 others(551): Show c.978-2483_978-2482insAGGGGCAGGGAGGAGAGAGGGGCAGGGA GGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGA GAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGG GCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCA GGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGA GAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAG AGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGG GGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGA GAGAGGGGCAGGGAGGACGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAG GGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAG AGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAAGGAGGAGGGG CAGGGA	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15			chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132172990	T T	TCCCTCCT others(527): Show TCCCTCCTCCTTCCTCTCCCTCCCTCTCTCTCTCCCTCTCTTCCTCCTCT CTCTCCCCCTCTCCTTCCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTC TCCCCTCTCCTTCCCTCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCT CTCCCCCTCTCCTTCCTCTCTCTCTCCCTCTCCTTCCCTCTCTCTCTCCC TCTCCTTCCCTCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCTCCC CCTCTCCTTCCCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCCCCCTC TCCTTCCCTCTCTCTCTCCCCCCCTCCTCCTTCCCTCTCTCTCTCTCCCC CTCTCCTTCCCTCTCTCTCTCCCCTCTCCTTCCCTCTCTCTCTCTCTCCC CCTCTCCTTCCCTCTCTCCCTCCCCCTCTCCTTCCCTCTCTCCTTCCCCC TCTCCTTCCCCTCTCCTTCCCCCTCTCCCTCCCCCTCGTCCTTCCCTCTC TCCCTCCCCATCTCCTTCCCTCTCTCCCTCTCCCC	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0156	1	158	0.0063	534	c.11 others(555): Show c.1103+3958_*1103+3959insCCTCCTCCTTCCTCTCCCTCCCTC TCTCTCTCCCTCTCTTCCTCCTCTCTCTCCCCCTCTCCTTCCTCTCTCTC CCCCTCTCCTTCCCTCTCTCTCTCTCCCCTCTCCTTCCCTCTCTCTCTCT CCCCCTCTCCTTCCCTCTCTCTCTCTCCCCCTCTCCTTCCTCTCTCTCTC CCTCTCCTTCCCTCTCTCTCTCCCTCTCCTTCCCTCTCTCTCTCTCCCCC TCTCCTTCCCTCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCCCCC TCTCCTTCCCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCCCCCCCTC CTCCTTCCCTCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCCCCTC TCCTTCCCTCTCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCCCTCCCCC TCTCCTTCCCTCTCTCCTTCCCCCTCTCCTTCCCCTCTCCTTCCCCCTCT CCCTCCCCCTCGTCCTTCCCTCTCTCCCTCCCCATCTCCTTCCCTCTCTC CCTCTCCCCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
LGR6_chr1_202188799_202324761	202204692	C C	CCAAACAC others(527): Show CCAAACACACACACACCTAACACACACCTCCTTCAAACACACACCTCCAA ACACACACACACCCCTCCTTCAAACACACACACACCTCCAAACACACACA CACCCCTAACACACACCTCCTCCAAACACAAACCTCCAAACACACACACA CCTCCAAACACACACACACCTAACACACACCTCCTCCAAACACACACACA CTTCCAAACACACACACACCTCCAAACACACATACATCTCCAAACACACA CACACCTAACACACGCACCTAACACACACTTCCTTCAAACACACACACCT CCAAAGACACACACACACCTAACACACACCTCCTTCAAACACACACACCT AACACACACCTCCTTCAAACACACACACACACCTCCAAACACACACACAC CTAACACACACCTCCTTCAAACACACACACACCTCCAAACACACACACCT AACACACACCTCCTTCAAACACACACACACCTCTCCAAACACACACACAC ACCTAACACACCCCCCTTCAAACACACACACCTCT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01517.hp1 HG01978.hp1 others(3): Show HG01071.hp1 HG01517.hp1 HG01978.hp1 HG02486.hp1 HG02698.hp1 HG03669.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 others(3): Show a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0003c0004t0001g0148	6	262	0.0229	534	c.212 others(553): Show c.212+10492_212+10493insAAACACACACACACCTAACACACACC TCCTTCAAACACACACCTCCAAACACACACACACCCCTCCTTCAAACACA CACACACCTCCAAACACACACACACCCCTAACACACACCTCCTCCAAACA CAAACCTCCAAACACACACACACCTCCAAACACACACACACCTAACACAC ACCTCCTCCAAACACACACACACTTCCAAACACACACACACCTCCAAACA CACATACATCTCCAAACACACACACACCTAACACACGCACCTAACACACA CTTCCTTCAAACACACACACCTCCAAAGACACACACACACCTAACACACA CCTCCTTCAAACACACACACCTAACACACACCTCCTTCAAACACACACAC ACACCTCCAAACACACACACACCTAACACACACCTCCTTCAAACACACAC ACACCTCCAAACACACACACCTAACACACACCTCCTTCAAACACACACAC ACCTCTCCAAACACACACACACACCTAACACACCCCCCTTCAAACACACA CACCTCTC	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
LGR6_chr1_202188799_202324761	202204692	C C	CCAAACAC others(527): Show CCAAACACACACACCTAACACACACCTCCTTCAAACACACACCTCCAAAC ACACACACACACCCCTCCTTCAAACACACACACACCTCCAAACACACACA CACCCCTAACACACACCTCCTCCAAACACAAACCTCCAAACACACACACA CCTCCAAACACACACACACCTAACACACACCTCCTCCAAACACACACACA CTTCCAAACACACACACACCTCCAAACACACATACATCTCCAAACACACA CACACCTAACACACGCACCTAACACACACTTCCTTCAAACACACACACCT CCAAAGACACACACACACCTAACACACACCTCCTTCAAACACACACACCT AACACACACCTCCTTCAAACACACACACACACCTCCAAACACACACACAC CTAACACACACCTCCTTCAAACACACACACACCTCCAAACACACACACCT AACACACACCTCCTTCAAACACACACACACCTCTCCAAACACACACACAC ACCTAACACACCCCCCTTCAAACACACACACCTCT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0129 a0002c0002t0002g0129	1	262	0.0038	534	c.212 others(553): Show c.212+10492_212+10493insAAACACACACACCTAACACACACCTC CTTCAAACACACACCTCCAAACACACACACACACCCCTCCTTCAAACACA CACACACCTCCAAACACACACACACCCCTAACACACACCTCCTCCAAACA CAAACCTCCAAACACACACACACCTCCAAACACACACACACCTAACACAC ACCTCCTCCAAACACACACACACTTCCAAACACACACACACCTCCAAACA CACATACATCTCCAAACACACACACACCTAACACACGCACCTAACACACA CTTCCTTCAAACACACACACCTCCAAAGACACACACACACCTAACACACA CCTCCTTCAAACACACACACCTAACACACACCTCCTTCAAACACACACAC ACACCTCCAAACACACACACACCTAACACACACCTCCTTCAAACACACAC ACACCTCCAAACACACACACCTAACACACACCTCCTTCAAACACACACAC ACCTCTCCAAACACACACACACACCTAACACACCCCCCTTCAAACACACA CACCTCTC	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
LHPP_chr10_124456823_124619141	124471472	T T	TATTTTAT others(527): Show TATTTTATATATATTTATATATATATAAATTTTTTTATATTTATATATTT TTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTTA TATATTTTATATATTTATATATTTTTTATATATTTATATATTTATATATA TATTTATATATATTTATGTATATTTATATATATATTTATATATATTTATG TATATTTATATATATATTTATATATATTTATGTATATTTATATATATTTA TATATTTATGTATATATTTATATATATTTATATATTTATGTATAAATTTA TATATATTTATATGTATTTATATATATATTTATATGTATTTATATATTTA TATATTTATATGTATTTATACATATATATTTATATGTATTTATATATATT TATATATATTTTTTATGTATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATA	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	260	0.0039	534	c.125 others(551): Show c.125+9485_125+9486insATTTTATATATATTTATATATATATAAA TTTTTTTATATTTATATATTTTTTATATATTTATATATATTACATATATT TTTATATTTTATATATATTTATATATTTTATATATTTATATATTTTTTAT ATATTTATATATTTATATATATATTTATATATATTTATGTATATTTATAT ATATATTTATATATATTTATGTATATTTATATATATATTTATATATATTT ATGTATATTTATATATATTTATATATTTATGTATATATTTATATATATTT ATATATTTATGTATAAATTTATATATATTTATATGTATTTATATATATAT TTATATGTATTTATATATTTATATATTTATATGTATTTATACATATATAT TTATATGTATTTATATATATTTATATATATTTTTTATGTATTTATATATA TTTATATATATATTTATATATATTTATATATATATTTATATATATTTATA TATATATTTATATATATATTTATATATATTTATATATATATTTATATATA TTTATA	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6			chr10	TogoVar
LY75_chr2_159798355_159909756	159874329	T T	TATATATA others(527): Show TATATATAAATATATATATGTTTTGTAAATATATATAAATATATATGTTT TGTAAATATATATAAATATATATGTTTTGTAAATATATATAAATATATAT GTTTTGTAAATATATATAAATATATATATGTTTTGTAAATATATAAATAT ATATTTTGTAAATATATATATTTTGTAAATATATATTGTAAATATATATA AATATATATTTTGTGAATTATATATATATTGTAAATTATATATATATTTT GTAAATATATATAGTAAATATATATATTTTGTAAATATGTATATATATTT TGTAAATATATATATTTTGTAAATATGTATATATATTTTGTAAATATATA CATTTTGTAAATATATAAATATATACATTTTGTAAATATATAAAAATATA TACATTTTGTAAATATATAAAAATATATGTTGTAAATATATAAAAATATA TATATTTTGTAAATATATAAATATATATATTTTGTAAATATATATATATT TTGTAAATATATATAAATATATACATATTTTGTAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA20129.hp2 HG02280.hp1 NA20129.hp2	a0001 a0013 a0001 a0013	a0001c0053 a0013c0018 a0001c0053 a0013c0018	a0001c0053t0001 a0013c0018t0001 a0001c0053t0001 a0013c0018t0001	a0001c0053t0001g0220 a0013c0018t0001g0218 a0001c0053t0001g0220 a0013c0018t0001g0218	2	330	0.0061	534	c.197 others(553): Show c.1974+1114_1974+1115insTTACAAAATATGTATATATTTATATA TATTTACAAAATATATATATATTTACAAAATATATATATTTATATATTTA CAAAATATATATATTTTTATATATTTACAACATATATTTTTATATATTTA CAAAATGTATATATTTTTATATATTTACAAAATGTATATATTTATATATT TACAAAATGTATATATTTACAAAATATATATACATATTTACAAAATATAT ATATTTACAAAATATATATACATATTTACAAAATATATATATTTACTATA TATATTTACAAAATATATATATAATTTACAATATATATATAATTCACAAA ATATATATTTATATATATTTACAATATATATTTACAAAATATATATATTT ACAAAATATATATTTATATATTTACAAAACATATATATATTTATATATAT TTACAAAACATATATATTTATATATATTTACAAAACATATATATTTATAT ATATTTACAAAACATATATATTTATATATATTTACAAAACATATATATAT TTATATAT	LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	12/34			chr2	TogoVar
MAP2K5_chr15_67537703_67812114	67736422	T T	TGAAAAAT others(527): Show TGAAAAATATAAGGTGGTACAATAGCAAAGACTTGGAACCAACCCAAATG TCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGG AATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACA TGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAA AACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGAT CACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGT CGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATG ACACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAA CTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAATATAATAAAA AAAAAAAAAAGAAAGGAAAAAAAAAAATAAATAAATAAATAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	278	0.0036	534	c.107 others(553): Show c.1074+8495_1074+8496insCAATAGCAAAGACTTGGAACCAACCC AAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACAC CATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAG GGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAA CAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAAT GAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGT GGGGTCGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCT AGATGACACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACATA TGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAATATAA TAAAAAAAAAAAAAAGAAAGGAAAAAAAAAAATAAATAAATAAATAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAATATA AGGTGGTA	MAP2K5	ENSG00000137764.20	transcript	ENST00000178640.10	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
MBD3L3_chr19_7051207_7063676	7061806	T T	TATATAAA others(527): Show TATATAAATTATATATAATATATAATATAATTATATAATATATAATATAA TTATATAATATATAATTATATTCTATATAGAATATAATTATATAATATAT AATTATATTATATATTATATAATTATAATATAATATATAATATAATTATA TTATATATAATTATATTAAACATATTATATAATATATAATTATATTATAT ATTATATAATATATAATTATATTATATATTATATAATCTATAATTATATT ATATATTATATAATCTATAATTATATTATATATTATATAATATATAATTA TATTATATATTATATAATATATAATTATATTATATATTATAATACATTTA ATATAATTATATTATAGATTATAATCTATAATATAATTATATTAATAGTA TTATAATATATAATATATTATATATAATTATATTATAACTTATTATATAT AATTATATTATAGATCATAATCTATAATATAATTATATATAATATGTTAT AATATATAATTATATTCTATATATAATTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	288	0.0035	534	c.-32 others(545): Show c.-3202_-3201insTATATATAATTATATATAGAATATAATTATATAT TATAACATATTATATATAATTATATTATAGATTATGATCTATAATATAAT TATATATAATAAGTTATAATATAATTATATATAATATATTATATATTATA ATACTATTAATATAATTATATTATAGATTATAATCTATAATATAATTATA TTAAATGTATTATAATATATAATATAATTATATATTATATAATATATAAT ATAATTATATATTATATAATATATAATATAATTATAGATTATATAATATA TAATATAATTATAGATTATATAATATATAATATAATTATATATTATATAA TATATAATATAATTATATATTATATAATATGTTTAATATAATTATATATA ATATAATTATATTATATATTATATTATAATTATATAATATATAATATAAT TATATATTATATAATTATATTCTATATAGAATATAATTATATATTATATA ATTATATTATATATTATATAATTATATTATATATTATATATAATTTATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3131		chr19	TogoVar
MBNL3_chrX_132364320_132494038	132396693	T T	TATATATA others(527): Show TATATATATTCATATATATATTCATATATATATATTCATATATAGATTCA TATATATATTCATATATAGATTCATATATATTCATATATAGATTCATATA TATTCATATATAGATTCATATATATATTCATATATATATTCATATATATT CATATATAGATTCATATATATATTCATATATATATTCATATATATTCATA TATATATTCATATATATATTCATATATATATTCATATATATATTCATATA TATATTCATATATATTCATATATATTCATATATATATTCATATATATATT CATATATATATTCATATATATTCATATATATATTCATATATATATTCATA TATATTCATATATATATTCATATATATATTCATATATATATTCATATATA TTCATATATATTCATATATATTCATATATATATTCATATATATTCATATA TATATTCATATATATATTCATATATATTCATATATATATTCATATATATT CATATATATATTCATATATATATTCATATATATTC	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0151 a0001c0001t0026g0151	1	191	0.0052	534	c.343 others(551): Show c.343-4360_343-4359insGAATATATATGAATATATATATGAATAT ATATATGAATATATATGAATATATATATGAATATATATGAATATATATAT GAATATATATATGAATATATATGAATATATATATGAATATATATGAATAT ATATGAATATATATGAATATATATATGAATATATATATGAATATATATAT GAATATATATGAATATATATATGAATATATATATGAATATATATGAATAT ATATATGAATATATATATGAATATATATATGAATATATATGAATATATAT GAATATATATATGAATATATATATGAATATATATATGAATATATATATGA ATATATATATGAATATATATGAATATATATATGAATATATATATGAATCT ATATATGAATATATATGAATATATATATGAATATATATATGAATCTATAT ATGAATATATATGAATCTATATATGAATATATATGAATCTATATATGAAT ATATATATGAATCTATATATGAATATATATATATGAATATATATATGAAT ATATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396705	T T	TATATATA others(527): Show TATATATATTCATATATATAGATTCATATATATATTCATATATATAGATT CATATATAGATTCATATATATATTCATATATAGATTCATATATATTCATA TATAGATTCATATATATTCATATATAGATTCATATATATATTCATATATA TATTCATATATATTCATATATATATTCATATATATATTCATATATATATT CATATATATTCATATATATATTCATATATATATTCATATATATATTCATA TATATATTCATATATATTCATATATATTCATATATATATTCATATATATA TTCATATATATATTCATATATATTCATATATATATTCATATATATATTCA TATATATTCATATATATATTCATATATATTCATATATATTCATATATATT CATATATATATTCATATATATTCATATATATATTCATATATATTCATATA TATATTCATATATATTCATATATATATTCATATATATTCATATATATATT CATATATATTCATATATATATTCATATATATATTC	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	191	0.0052	534	c.343 others(551): Show c.343-4372_343-4371insGAATATATATATGAATATATATATGAAT ATATATGAATATATATATGAATATATATGAATATATATATGAATATATAT GAATATATATATGAATATATATGAATATATATATGAATATATATGAATAT ATATATGAATATATATGAATATATATGAATATATATGAATATATATATGA ATATATATGAATATATATATGAATATATATATGAATATATATGAATATAT ATATGAATATATATATGAATATATATATGAATATATATGAATATATATGA ATATATATATGAATATATATATGAATATATATATGAATATATATATGAAT ATATATGAATATATATATGAATATATATATGAATATATATATGAATATAT ATGAATATATATATGAATATATATATGAATCTATATATGAATATATATGA ATCTATATATGAATATATATGAATCTATATATGAATATATATATGAATCT ATATATGAATCTATATATATGAATATATATATGAATCTATATATATGAAT ATATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MCM4_chr8_47955941_47983160	47981073	C C	CGGCCTCC others(527): Show CGGCCTCCAAAGTGCTGGGATTACAGGGTGTGAGGCCACCATGCCCGGGA GTGAAATTATTTCAAACTACAAGTTTAAAAATTGAATTATAGTGGCATTT TAAGAGTTTCTTAGATTTAGTAAGCAACGGCAGTTTTAATAGCATTTCCT AGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTG AGGCGGGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACAT GGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTG GGCGGGCGGCCTATAGTCCCCAGCTAATCGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTG CACTCCAGCCTGGCGACAGAGCGAGATTACGTCTCAAAAAAAAAGTATTT CCTAACTGATGCATAGTAGAGATGGGGTTGCACTATATTGGCCAGGCTGT CTTGAACTCCTGACCTCAAGTGATCTGCCTGCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0002 a0001c0001t0004g0002	1	314	0.0032	534	c.42 others(545): Show c.4295_*4296insGGCCTCCAAAGTGCTGGGATTACAGGGTGTGAGG CCACCATGCCCGGGAGTGAAATTATTTCAAACTACAAGTTTAAAAATTGA ATTATAGTGGCATTTTAAGAGTTTCTTAGATTTAGTAAGCAACGGCAGTT TTAATAGCATTTCCTAGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCTGAGGCGGGGCAGATCACGAGGTCAGGAGATTGAGAC CATCCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTGGGCGGGCGGCCTATAGTCCCCAGCTAATCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCAGGAGGTGGAGGTTGCAGTGAGCT GAGATCGCGCCACTGCACTCCAGCCTGGCGACAGAGCGAGATTACGTCTC AAAAAAAAAGTATTTCCTAACTGATGCATAGTAGAGATGGGGTTGCACTA TATTGGCCAGGCTGTCTTGAACTCCTGACCTCAAGTGATCTGCCTGCCCT	MCM4	ENSG00000104738.19	transcript	ENST00000649973.1	protein_coding		2914		chr8	TogoVar
MTTP_chr4_99569824_99628997	99588981	A A	ATATATAT others(527): Show ATATATATATGTTCATATATATTCATATATATGTTCATATATATATTCAT ATATATGTTCATATATATTCATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATGTTCATAT ATATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCAT ATATATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTC ATATATATATGTTCATATATATGTTCATATATATATGTTCATATATATGT TCATATATATATGTTCATATATATGTTCATATATATATGTTCATATATAT GTTCATATATATATGTTCATATATATGTTCATATATATATGTTCATATAT ATGTTCATATATATATGTTCATATATATGTTCATATATATATGTTCATAT ATATGTTCATATATATATGTTCATATATATGTTCATATATATATGTTCAT ATATATGTTCATATATATATGTTCATATATATGTT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	364	0.0028	534	c.394 others(549): Show c.394-662_394-661insTATATATATGTTCATATATATTCATATATA TGTTCATATATATATTCATATATATGTTCATATATATTCATATATATGTT CATATATATATTCATATATATATGTTCATATATATATTCATATATATATG TTCATATATATGTTCATATATATATGTTCATATATATGTTCATATATATA TGTTCATATATATGTTCATATATATATGTTCATATATATGTTCATATATA TATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCATATA TATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCATA TATATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCA TATATATATGTTCATATATATGTTCATATATATATGTTCATATATATGTT CATATATATATGTTCATATATATGTTCATATATATATGTTCATATATATG TTCATATATATATGTTCATATATATGTTCATATATATATGTTCATATATA TGTT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MTTP_chr4_99569824_99628997	99588981	A A	ATATATAT others(527): Show ATATATATATGTTCATATATATTCATATATATGTTCATATATATATTCAT ATATATGTTCATATATATTCATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCATAT ATATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCAT ATATATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTC ATATATATATGTTCATATATATGTTCATATATATATGTTCATATATATGT TCATATATATATGTTCATATATATGTTCATATATATATGTTCATATATAT GTTCATATATATATGTTCATATATATGTTCATATATATATGTTCATATAT ATGTTCATATATATATGTTCATATATATGTTCATATATATATGTTCATAT ATATGTTCATATATATATGTTCATATATATGTTCATATATATATGTTCAT ATATATGTTCATATATATATGTTCATATATATGTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA19030.hp2 HG02622.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0111 a0001c0001t0001g0011 a0001c0001t0001g0111	2	364	0.0055	534	c.394 others(549): Show c.394-662_394-661insTATATATATGTTCATATATATTCATATATA TGTTCATATATATATTCATATATATGTTCATATATATTCATATATATGTT CATATATATATTCATATATATATGTTCATATATATGTTCATATATATATG TTCATATATATGTTCATATATATATGTTCATATATATGTTCATATATATA TGTTCATATATATGTTCATATATATATGTTCATATATATGTTCATATATA TATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCATATA TATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCATA TATATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCA TATATATATGTTCATATATATGTTCATATATATATGTTCATATATATGTT CATATATATATGTTCATATATATGTTCATATATATATGTTCATATATATG TTCATATATATATGTTCATATATATGTTCATATATATATGTTCATATATA TGTT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MTTP_chr4_99569824_99628997	99589009	A A	ACATATAT others(527): Show ACATATATATGTTCATATATATACTCATATATATATGTTCATATATATAC TCATATATATGTTCATATATATACTCATATATATGTTCATATATATACTC ATATATATGTTCATATATATACTCATATATATGTTCATATATATACTCAT ATATATGTTCATATATATACTCATATATATGTTCATATATATACTCATAT ATATGTTCATATATATACTCATATATATGTTCATATATATACTCATATAT ATGTTCATATATATACTCATATATATGTTCATATATATACTCATATATAT GTTCATATATATATTCATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATGTTCATATATATATATGTT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0122 a0005c0005t0001g0122	1	364	0.0028	534	c.394 others(549): Show c.394-611_394-610insTCATATATATATGTTCATATATATACTCAT ATATATGTTCATATATATACTCATATATATGTTCATATATATACTCATAT ATATGTTCATATATATACTCATATATATGTTCATATATATACTCATATAT ATGTTCATATATATACTCATATATATGTTCATATATATACTCATATATAT GTTCATATATATACTCATATATATGTTCATATATATACTCATATATATGT TCATATATATACTCATATATATGTTCATATATATACTCATATATATGTTC ATATATATATTCATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATGTTCATATATATATATGTTCATATATATGTTCATATAT ATAC	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MUC4_chr3_195741771_195816929	195767737	C C	CACCACCA others(527): Show CACCACCATCACCACCATCATTGCCACCACCATCATCACCACCATCACCA CCACCACCACCATCACCACCATCATCACCACCATCACCACCATCACTGCC ACCCCCAACACTACCACCATCGCCACCACCACCATCACCACCACCACCAC CATCACCACCATCATTGCCACCACCATCATCACCACCATCACCACCACCA CCACCATCACCACCATCATCACCACCATCACCACCATCACTGCCACCCCC AACACTACCACCATCGCCACCACCACCATCACCACCACCACCACCATCAC CACCACCATCGCCACCACCATCATCACCATCACCATCACCACCACCATCA TCACCACCATCACCACCACCACCATCATCACCATCACCATTACCATTGCC ACCACCATCACCACCACCATCACCACCACCACCATCATCACCATTGCCAC CACCATCACCACCATCACCACCACCATCGCCACCACCACCACCACCACCA TCACCATCACCACCATCACTGCCACCCCCAACACT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0075 a0004c0004t0001g0075	1	249	0.0040	534	c.135 others(553): Show c.13530-987_13530-986insAGTGTTGGGGGTGGCAGTGATGGTGG TGATGGTGATGGTGGTGGTGGTGGTGGTGGCGATGGTGGTGGTGATGGTG GTGATGGTGGTGGCAATGGTGATGATGGTGGTGGTGGTGATGGTGGTGGT GATGGTGGTGGCAATGGTAATGGTGATGGTGATGATGGTGGTGGTGGTGA TGGTGGTGATGATGGTGGTGGTGATGGTGATGGTGATGATGGTGGTGGCG ATGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGCGATGGT GGTAGTGTTGGGGGTGGCAGTGATGGTGGTGATGGTGGTGATGATGGTGG TGATGGTGGTGGTGGTGGTGATGGTGGTGATGATGGTGGTGGCAATGATG GTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGCGATGGTGGTAGT GTTGGGGGTGGCAGTGATGGTGGTGATGGTGGTGATGATGGTGGTGATGG TGGTGGTGGTGGTGATGGTGGTGATGATGGTGGTGGCAATGATGGTGGTG ATGGTGGT	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	7/24			chr3	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(527): Show AATATATATATTTAAATATAAGTATATGTAAATATATATATTTCAATATA AGTATATGTAAATATATATATTTCAATATAAGTATATATAAATATATATA TTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATGTATA TAAATATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAA TATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAA TATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATA AGTATGTATATAAATATATATATTTCAATATAAGTATATATAAAAATATA TATATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTA TGTATAAAAATATATATATTTCAATATAAGTATGTATAAATATATATATT TCAATATAAGTATGTATAAATATATATATTTCAATATAAGTATATATAAA AATATATATATTTCAATATAAGTATATATAAAAAT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18951.hp2 NA19060.hp2 others(2): Show NA18950.hp1 NA18951.hp2 NA19060.hp2 NA19077.hp2 NA19082.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0006 a0001c0002 a0004c0006	a0001c0002t0002 a0001c0002t0003 a0004c0006t0001 others(1): Show a0001c0002t0002 a0001c0002t0003 a0004c0006t0001 a0004c0006t0004	a0001c0002t0002g0104 a0001c0002t0003g0097 a0004c0006t0001g0107 others(2): Show a0001c0002t0002g0104 a0001c0002t0003g0097 a0004c0006t0001g0107 a0004c0006t0004g0095 a0004c0006t0004g0105	5	326	0.0153	534	c.358 others(551): Show c.358+3191_358+3192insATTTAAATATAAGTATATGTAAATATAT ATATTTCAATATAAGTATATGTAAATATATATATTTCAATATAAGTATAT ATAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCAAT ATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAAT ATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAA GTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAATATAT ATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAGTAT ATATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATAT TTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTAT AAATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAATAT AAGTATATATAAAAATATATATATTTCAATATAAGTATATATAAAAATAT ATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690669	T T	TATATATT others(527): Show TATATATTTAAATATAAGTATATATATAAATATATATATTTATATATAAG TATATATATAAATATATATATTTATATATAAGTATATATATATTTATATA TAAGTATATATATATATTTATATATAAGTATATATATATATTTATATATA AGTATATATATAAATATATATATTTATATATAAGTATATATATATTTATA TATAAGTATATATAAATATATATATTTATATATAAGTGTATATATATAAA TATATATATTTATATATAAGTATATATAAATATATATATTTATATATAAG TATATATAAATATATATATTTATATATAAGTATATATAAATATATATATT TAAATATAAGTATATATAAATATATATATTTAAATATAAGTATATATATA AATATATATTTAAATATAAGTATATATAAATATATATTTAAATATAAGTA TATATATAAATATATATTTAAATATAAGTATATATATAAATATAAGTATA TATATAAATATATATTTAAATATAAGTATATATAA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03942.hp2 HG04184.hp1 HG03831.hp2 HG03942.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0022 a0001c0001t0002 a0001c0001t0022	a0001c0001t0002g0030 a0001c0001t0022g0060 a0001c0001t0022g0124 a0001c0001t0002g0030 a0001c0001t0022g0060 a0001c0001t0022g0124	3	326	0.0092	534	c.358 others(551): Show c.358+3407_358+3408insTTAAATATAAGTATATATATAAATATAT ATATTTATATATAAGTATATATATAAATATATATATTTATATATAAGTAT ATATATATTTATATATAAGTATATATATATATTTATATATAAGTATATAT ATATATTTATATATAAGTATATATATAAATATATATATTTATATATAAGT ATATATATATTTATATATAAGTATATATAAATATATATATTTATATATAA GTGTATATATATAAATATATATATTTATATATAAGTATATATAAATATAT ATATTTATATATAAGTATATATAAATATATATATTTATATATAAGTATAT ATAAATATATATATTTAAATATAAGTATATATAAATATATATATTTAAAT ATAAGTATATATATAAATATATATTTAAATATAAGTATATATAAATATAT ATTTAAATATAAGTATATATATAAATATATATTTAAATATAAGTATATAT ATAAATATAAGTATATATATAAATATATATTTAAATATAAGTATATATAA ATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690701	T T	TATATATT others(527): Show TATATATTTAAATATAAGTATATATATAAATATATATATTTATATATAAG TATATATATAAATATATATATTTATATATAAGTATATATATATTTATATA TAAGTATATATATATATTTATATATAAGTATATATATATATTTATATATA AGTATATATATAAATATATATATTTATATATAAGTATATATATATTTATA TATAAGTATATATAAATATATATATTTATATATAAGTATATATATATAAA TATATATATTTATATATAAGTATATATAAATATATATATTTATATATAAG TATATATAAATATATATATTTATATATAAGTATATATAAATATATATATT TAAATATAAGTATATATAAATATATATATTTAAATATAAGTATATATATA AATATATATTTAAATATAAGTATATATAAATATATATTTAAATATAAGTA TATATATAAATATATATTTAAATATAAGTATATATATAAATATAAGTATA TATATAAATATATATTTAAATATAAGTATATATAA	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18981.hp1 NA18985.hp1 NA18970.hp1 NA18981.hp1 NA18985.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0001c0001t0003 a0004c0007t0004 a0001c0001t0001 a0001c0001t0003 a0004c0007t0004	a0001c0001t0001g0053 a0001c0001t0003g0052 a0004c0007t0004g0051 a0001c0001t0001g0053 a0001c0001t0003g0052 a0004c0007t0004g0051	3	326	0.0092	534	c.358 others(551): Show c.358+3439_358+3440insTTAAATATAAGTATATATATAAATATAT ATATTTATATATAAGTATATATATAAATATATATATTTATATATAAGTAT ATATATATTTATATATAAGTATATATATATATTTATATATAAGTATATAT ATATATTTATATATAAGTATATATATAAATATATATATTTATATATAAGT ATATATATATTTATATATAAGTATATATAAATATATATATTTATATATAA GTATATATATATAAATATATATATTTATATATAAGTATATATAAATATAT ATATTTATATATAAGTATATATAAATATATATATTTATATATAAGTATAT ATAAATATATATATTTAAATATAAGTATATATAAATATATATATTTAAAT ATAAGTATATATATAAATATATATTTAAATATAAGTATATATAAATATAT ATTTAAATATAAGTATATATATAAATATATATTTAAATATAAGTATATAT ATAAATATAAGTATATATATAAATATATATTTAAATATAAGTATATATAA ATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690701	T T	TATATATT others(527): Show TATATATTTAAATATAAGTATATATATAAATATATATATTTATATATAAG TATATATATAAATATATATATTTATATATAAGTATATATATATTTATATA TAAGTATATATATATATTTATATATAAGTATATATATATATTTATATATA AGTATATATATAAATATATATATTTATATATAAGTATATATATATTTATA TATAAGTATATATAAATATATATATTTATATATAAGTGTATATATATAAA TATATATATTTATATATAAGTATATATAAATATATATATTTATATATAAG TATATATAAATATATATATTTATATATAAGTATATATAAATATATATATT TAAATATAAGTATATATAAATATATATATTTAAATATAAGTATATATATA AATATATATTTAAATATAAGTATATATAAATATATATTTAAATATAAGTA TATATATAAATATATATTTAAATATAAGTATATATATAAATATAAGTATA TATATAAATATATATTTAAATATAAGTATATATAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp1 HG00738.hp2 others(17): Show HG00639.hp1 HG00735.hp1 HG00738.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01433.hp2 HG01934.hp1 HG02148.hp1 HG02300.hp1 HG02735.hp2 HG02895.hp2 HG04204.hp2 HG04228.hp2 NA20752.hp1 NA20905.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0009	a0001c0001 a0002c0004 a0004c0007 others(2): Show a0001c0001 a0002c0004 a0004c0007 a0005c0013 a0009c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0016 a0002c0004t0005 a0004c0007t0004 a0005c0013t0008 a0009c0025t0004	a0001c0001t0001g0018 a0001c0001t0002g0024 a0001c0001t0002g0188 others(17): Show a0001c0001t0001g0018 a0001c0001t0002g0024 a0001c0001t0002g0188 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0025 a0001c0001t0003g0028 a0001c0001t0003g0187 a0001c0001t0003g0253 a0001c0001t0004g0021 a0001c0001t0010g0029 a0001c0001t0010g0041 a0001c0001t0016g0185 a0001c0001t0016g0186 a0002c0004t0005g0121 a0004c0007t0004g0031 a0005c0013t0008g0120 a0009c0025t0004g0092	20	326	0.0614	534	c.358 others(551): Show c.358+3439_358+3440insTTAAATATAAGTATATATATAAATATAT ATATTTATATATAAGTATATATATAAATATATATATTTATATATAAGTAT ATATATATTTATATATAAGTATATATATATATTTATATATAAGTATATAT ATATATTTATATATAAGTATATATATAAATATATATATTTATATATAAGT ATATATATATTTATATATAAGTATATATAAATATATATATTTATATATAA GTGTATATATATAAATATATATATTTATATATAAGTATATATAAATATAT ATATTTATATATAAGTATATATAAATATATATATTTATATATAAGTATAT ATAAATATATATATTTAAATATAAGTATATATAAATATATATATTTAAAT ATAAGTATATATATAAATATATATTTAAATATAAGTATATATAAATATAT ATTTAAATATAAGTATATATATAAATATATATTTAAATATAAGTATATAT ATAAATATAAGTATATATATAAATATATATTTAAATATAAGTATATATAA ATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
NFILZ_chr19_8625633_8686151	8678099	A A	ATCCGTTC others(527): Show ATCCGTTCTTCCATCCACCCATTCATTAGTTTATCCATCCTCACCCATCC ACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCATCCACTTGT CCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCTTCCATCC ATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCTATCCATCCACCCTTCCATCCATTCATCCACTTGTCCATCCATCC ATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCAG CCGTCCATCTGTCCCGTCCGTCCGTCCATCCGTCCGTCCATCCATCCATC CATCCATCCATCCATCCATCCATCCATCCATTCTTCCATCCATCCATCCA TTCAGCCATCCATCCATCCATCCATCCATTCCATCCATCCATCCGTCCAT TCTTCCATCCATCCATTCATTAGTTTATCCATCCTCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATTCATCCACTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG03471.hp1 HG02896.hp2 HG02897.hp1 HG03471.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0018 a0005c0005t0018	a0005c0005t0018g0078 a0005c0005t0018g0111 a0005c0005t0018g0112 a0005c0005t0018g0078 a0005c0005t0018g0111 a0005c0005t0018g0112	3	366	0.0082	534	c.46 others(543): Show c.467_*468insGTTCTTCCATCCACCCATTCATTAGTTTATCCATCC TCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTC ATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCTTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCTATCCATCCACCCTTCCATCCATTCATCCACTTGT CCATCCATCCATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCT ATCCATCCAGCCGTCCATCTGTCCCGTCCGTCCGTCCATCCGTCCGTCCA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATTCTTCCATC CATCCATCCATTCAGCCATCCATCCATCCATCCATCCATTCCATCCATCC ATCCGTCCATTCTTCCATCCATCCATTCATTAGTTTATCCATCCTCATCC ATCCATCCATCCATCCATCCATCCATCCATCCATTCATCCACTTGTCC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	468	INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8678099	A A	ATCCGTTC others(527): Show ATCCGTTCTTCCATCCACCCATTCATTAGTTTATCCATCCTCACCCATCC ACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCATCCACTTGT CCATCCATCCATCCATCCATCCATCCATCCATCCATCCTTCCATCCATTC ATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CTATCCATCCACCCTTCCATCCATTCATCCACTTGTCCATCCATCCATCC ATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCAGCCGT CCATCTGTCCCGTCCGTCCGTCCATCCGTCCGTCCATCCATCCATCCATC CATCCATCCATCCATCCATCCATCCATTCTTCCATCCATCCATCCATTCA GCCATCCATCCATCCATCCATCCATTCCATCCATCCATCCGTCCATTCTT CCATCCATCCATTCATTAGTTTATCCATCCTCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATTCATCCACTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0086 a0003c0003t0086	a0003c0003t0086g0116 a0003c0003t0086g0116	1	366	0.0027	534	c.46 others(543): Show c.467_*468insGTTCTTCCATCCACCCATTCATTAGTTTATCCATCC TCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTC ATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCTT CCATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCTATCCATCCACCCTTCCATCCATTCATCCACTTGTCCAT CCATCCATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCC ATCCAGCCGTCCATCTGTCCCGTCCGTCCGTCCATCCGTCCGTCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCATCCATTCTTCCATCCATC CATCCATTCAGCCATCCATCCATCCATCCATCCATTCCATCCATCCATCC GTCCATTCTTCCATCCATCCATTCATTAGTTTATCCATCCTCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATCCATTCATCCACTTGTCC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	468	INFO_REALIGN_3_PRIME	chr19	TogoVar
NHLRC4_chr16_562005_574495	571108	T T	TGTGTGTG others(527): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTG TGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTG TGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATG TGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCC CGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGC CTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCG TGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCCTTGT GTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGT GTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTG TGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	534	c.26 others(545): Show c.2689_*2690insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTG TGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTG TGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCC GTGTGTGTGTGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGT GGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTG GCTCCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGG CTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGGGG GGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCT AGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCC TGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCC	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1614		chr16	TogoVar
NME4_chr16_392199_405754	397716	G G	GTGAGGGA others(527): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGC	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0174 a0001c0002t0001g0174	1	356	0.0028	534	c.91+ others(547): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGCTGAGGGAGTCGGGGGGTGGGGGTGGGG GG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NMT2_chr10_15100770_15173693	15149442	C C	CCACCATC others(527): Show CCACCATCACATCATCACCACCATCATCACCATTATCATCACTGTCATCA CCACTAACATCGCCACTACCATCGCCATCACCATCACTGCCACCATCATT ATCACCATCATCACCACCACCATCACTACCCCATTGTCGTCACCATCACC ATAATCACCACCACCACCACTGCCATCACCACCATCACCATTATCATCAC CACCATCACTACCCCATCATCGTCACCATCACCATAATCACCACCACCAC TGCCATCACCACCATCACCATCATCATCACCATCATTATCACCACCATCA TCACCATCATCACCACCATCATCACCACCATCATCATCATCACCACCATC ACCATCATCATCACCACCATCATCACCATCATTATCACCACCATGATCAC CATGATCACCACCATCATCACCATCATCATCACCATCATCACCACCATCA TCATCACCATCATCATCACCATCATCATCATCACCACCATTACCATCATC ATCACCACCATCATCATCACCATCATCACCACCAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02145.hp2 HG03516.hp2 HG01243.hp1 HG02145.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0018 a0001c0001t0004 a0001c0002t0018	a0001c0001t0004g0269 a0001c0002t0018g0268 a0001c0002t0018g0271 a0001c0001t0004g0269 a0001c0002t0018g0268 a0001c0002t0018g0271	3	276	0.0109	534	c.111 others(551): Show c.111-7886_111-7885insATGGTGGTGATGATGGTGATGATGATGG TGGTGATGATGATGGTAATGGTGGTGATGATGATGATGGTGATGATGATG GTGATGATGATGGTGGTGATGATGGTGATGATGATGGTGATGATGGTGGT GATCATGGTGATCATGGTGGTGATAATGATGGTGATGATGGTGGTGATGA TGATGGTGATGGTGGTGATGATGATGATGGTGGTGATGATGGTGGTGATG ATGGTGATGATGGTGGTGATAATGATGGTGATGATGATGGTGATGGTGGT GATGGCAGTGGTGGTGGTGATTATGGTGATGGTGACGATGATGGGGTAGT GATGGTGGTGATGATAATGGTGATGGTGGTGATGGCAGTGGTGGTGGTGG TGATTATGGTGATGGTGACGACAATGGGGTAGTGATGGTGGTGGTGATGA TGGTGATAATGATGGTGGCAGTGATGGTGATGGCGATGGTAGTGGCGATG TTAGTGGTGATGACAGTGATGATAATGGTGATGATGGTGGTGATGATGTG ATGGTG	NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	1/11			chr10	TogoVar
NMT2_chr10_15100770_15173693	15149442	C C	CCACCATC others(527): Show CCACCATCACATCATCACCACCATCATCACCATTATCATCACTGTCATCA CCACTACCATCGCCACTACCATCGCCATCACCATCACTGCCACCATCATT ATCACCATCATCACCACCACCATCACTACCCCATCATCGTCACCATCACC ATAATCACCACCACCACCACTGCCATCACCACCATCACCATTATCATCAC CATCACTACCCCATCATAGTCACCATCACCATAATCACCACCACCACTGC CATCACCACCATCACCATCATCATCACCATCATTATCACCACCATCATCA CCATCATCACCACCATCATCACCACCATCATCATCATCACCACCATCACC ATCATCATCACCACCATCATCACCATCATTATCACCACCATGATCACCAT GATCACCACCATCATCACCATCATCATCACCATCATCACCACCATCATCA TCACCATCATCACCATCATCACCATCATCATCACCACCATTACCATCATC ATCACCACCATCATCATCACCATCATCACCACCAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0001 a0001c0001t0023g0001	1	276	0.0036	534	c.111 others(551): Show c.111-7886_111-7885insATGGTGGTGATGATGGTGATGATGATGG TGGTGATGATGATGGTAATGGTGGTGATGATGATGGTGATGATGGTGATG ATGGTGATGATGATGGTGGTGATGATGGTGATGATGATGGTGATGATGGT GGTGATCATGGTGATCATGGTGGTGATAATGATGGTGATGATGGTGGTGA TGATGATGGTGATGGTGGTGATGATGATGATGGTGGTGATGATGGTGGTG ATGATGGTGATGATGGTGGTGATAATGATGGTGATGATGATGGTGATGGT GGTGATGGCAGTGGTGGTGGTGATTATGGTGATGGTGACTATGATGGGGT AGTGATGGTGATGATAATGGTGATGGTGGTGATGGCAGTGGTGGTGGTGG TGATTATGGTGATGGTGACGATGATGGGGTAGTGATGGTGGTGGTGATGA TGGTGATAATGATGGTGGCAGTGATGGTGATGGCGATGGTAGTGGCGATG GTAGTGGTGATGACAGTGATGATAATGGTGATGATGGTGGTGATGATGTG ATGGTG	NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	1/11			chr10	TogoVar
NMT2_chr10_15100770_15173693	15149442	C C	CCACCATC others(527): Show CCACCATCACATCATCACCACCATCATCACCATTATCATCACTGTCATCA CCACTACCATCGCCACTACCATCGCCATCACCATCACTGCCACCATCATT ATCACCATCATCACCACCACCATCACTACCCCATCATCGTCACCATCACC ATAATCACCACCACCACCACTGCCATCACCACCATCACCATTATCATCAC CATCACTACCCCATCATAGTCACCATCACCATAATCACCACCACCACTGC CATCACCACCATCACCATCATCATCACCATCATTATCACCACCATCATCA CCATCATCACCACCATCATCACCACCATCATCATCATCACCACCATCACC ATCATCATCACCACCATCATCACCATCATTATCACCACCATGATCACCAT GATCACCACCATCATCACCATCATCATCACCATCATCACCACCATCATCA TCACCATCATCATCACCATCATCACCATCATCACCACCATTACCATCATC ATCACCACCATCATCATCACCATCATCACCACCAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 NA19066.hp2 HG00140.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0138 a0001c0001t0001g0004 a0001c0001t0001g0138	2	276	0.0073	534	c.111 others(551): Show c.111-7886_111-7885insATGGTGGTGATGATGGTGATGATGATGG TGGTGATGATGATGGTAATGGTGGTGATGATGGTGATGATGGTGATGATG ATGGTGATGATGATGGTGGTGATGATGGTGATGATGATGGTGATGATGGT GGTGATCATGGTGATCATGGTGGTGATAATGATGGTGATGATGGTGGTGA TGATGATGGTGATGGTGGTGATGATGATGATGGTGGTGATGATGGTGGTG ATGATGGTGATGATGGTGGTGATAATGATGGTGATGATGATGGTGATGGT GGTGATGGCAGTGGTGGTGGTGATTATGGTGATGGTGACTATGATGGGGT AGTGATGGTGATGATAATGGTGATGGTGGTGATGGCAGTGGTGGTGGTGG TGATTATGGTGATGGTGACGATGATGGGGTAGTGATGGTGGTGGTGATGA TGGTGATAATGATGGTGGCAGTGATGGTGATGGCGATGGTAGTGGCGATG GTAGTGGTGATGACAGTGATGATAATGGTGATGATGGTGGTGATGATGTG ATGGTG	NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	1/11			chr10	TogoVar
NMT2_chr10_15100770_15173693	15149442	C C	CCACCATC others(527): Show CCACCATCACATCATCACCACCATCATCACCATTATCATCACTGTCATCA CCACTACCATCGCCACTACCATCGCCATCACCATCACTGCCACCATCATT ATCACCATCATCACCACCACCATCACTACCCCATCATCGTCACCATCACC ATAATCACCACCACCACCACTGCCATCACCACCATCACCATTATCATCAC CATCACTACCCCATCATAGTCACCATCACCATAATCACCACCACCACTGC CATCACCACCATCACCATCATCATCACCATCATTATCACCACCATCATCA CCATCATCACCACCATCATCACCACCATCATCATCATCACCACCATCACC ATCATCATCACCACCATCATCACCATCATTATCACCACCATGATCACCAT GATCACCACCATCATCACCATCATCATCACCATCATCACCACCATCATCA TCACCATCATCATCACCATCATCACCATCATCATCACCACCATTACCATC ATCACCACCATCATCATCACCATCATCACCACCAT	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	276	0.0036	534	c.111 others(551): Show c.111-7886_111-7885insATGGTGGTGATGATGGTGATGATGATGG TGGTGATGATGGTAATGGTGGTGATGATGATGGTGATGATGGTGATGATG ATGGTGATGATGATGGTGGTGATGATGGTGATGATGATGGTGATGATGGT GGTGATCATGGTGATCATGGTGGTGATAATGATGGTGATGATGGTGGTGA TGATGATGGTGATGGTGGTGATGATGATGATGGTGGTGATGATGGTGGTG ATGATGGTGATGATGGTGGTGATAATGATGGTGATGATGATGGTGATGGT GGTGATGGCAGTGGTGGTGGTGATTATGGTGATGGTGACTATGATGGGGT AGTGATGGTGATGATAATGGTGATGGTGGTGATGGCAGTGGTGGTGGTGG TGATTATGGTGATGGTGACGATGATGGGGTAGTGATGGTGGTGGTGATGA TGGTGATAATGATGGTGGCAGTGATGGTGATGGCGATGGTAGTGGCGATG GTAGTGGTGATGACAGTGATGATAATGGTGATGATGGTGGTGATGATGTG ATGGTG	NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	1/11			chr10	TogoVar
NMT2_chr10_15100770_15173693	15149442	C C	CCACCATC others(527): Show CCACCATCACATCATCACCACCATCATCACCATTATCATCACTGTCATCA CCACTACCATCGCCACTACCATCGCCATCACCATCACTGCCACCATCATT ATCACCATCATCACCACCACCATCACTACCCCATCATCGTCACCATCACC ATAATCACCACCACCACCACTGCCATCACCACCATCACCATTATCATCAC CATCACTACCCCATCATAGTCACCATCACCATAATCACCACCACCACTGC CATCACCACCATCACCATCATCATCACCATCATTATCACCACCATCATCA CCATCATCACCACCATCATCACCACCATCATCATCATCACCACCATCACC ATCATCATCACCACCATCATCACCATCATTATCACCACCATGATCACCAT GATCACCACCATCATCACCATCATCATCACCATCATCACCACCATCATCA TCACCATCATCATCACCATCATCACCATCATCATCACCACCATTACCATC ATCATCACCACCATCATCACCATCATCACCACCAT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	276	0.0036	534	c.111 others(551): Show c.111-7886_111-7885insATGGTGGTGATGATGGTGATGATGGTGG TGATGATGATGGTAATGGTGGTGATGATGATGGTGATGATGGTGATGATG ATGGTGATGATGATGGTGGTGATGATGGTGATGATGATGGTGATGATGGT GGTGATCATGGTGATCATGGTGGTGATAATGATGGTGATGATGGTGGTGA TGATGATGGTGATGGTGGTGATGATGATGATGGTGGTGATGATGGTGGTG ATGATGGTGATGATGGTGGTGATAATGATGGTGATGATGATGGTGATGGT GGTGATGGCAGTGGTGGTGGTGATTATGGTGATGGTGACTATGATGGGGT AGTGATGGTGATGATAATGGTGATGGTGGTGATGGCAGTGGTGGTGGTGG TGATTATGGTGATGGTGACGATGATGGGGTAGTGATGGTGGTGGTGATGA TGGTGATAATGATGGTGGCAGTGATGGTGATGGCGATGGTAGTGGCGATG GTAGTGGTGATGACAGTGATGATAATGGTGATGATGGTGGTGATGATGTG ATGGTG	NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	1/11			chr10	TogoVar
NMT2_chr10_15100770_15173693	15149442	C C	CCACCATC others(527): Show CCACCATCACATCATCACCACCATCATCACCATTATCATCACTGTCATCA CCACTACCATCGCCACTACCATCGCCATCACCATCACTGCCACCATCATT ATCACCATCATCACCACCACCATCACTACCCCATCATCGTCACCATCACC ATAATCACCACCACCACCACTGCCATCACCACCATCACCATTATCATCAC CATCACTACCCCATCATAGTCACCATCACCATAATCACCACCACCACTGC CATCACCACCATCACCATCATCATCACCATCATTATCACCACCATCATCA CCATCATCACCACCATCATCACCACCATCATCATCATCACCACCATCACC ATCATCATCACCACCATCATCACCATCATTATCACCACCATGATCACCAT GATCACCACCATCATCACCATCATCATCACCATCATCACCACCATCATCA TCACCATCATCATCACCATCATCACCATCATCATCACCACCATTACCATC ATCATCACCACCATCATCATCACCATCATCACCAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0260 a0001c0001t0007g0260	1	276	0.0036	534	c.111 others(551): Show c.111-7886_111-7885insATGGTGATGATGGTGATGATGATGGTGG TGATGATGATGGTAATGGTGGTGATGATGATGGTGATGATGGTGATGATG ATGGTGATGATGATGGTGGTGATGATGGTGATGATGATGGTGATGATGGT GGTGATCATGGTGATCATGGTGGTGATAATGATGGTGATGATGGTGGTGA TGATGATGGTGATGGTGGTGATGATGATGATGGTGGTGATGATGGTGGTG ATGATGGTGATGATGGTGGTGATAATGATGGTGATGATGATGGTGATGGT GGTGATGGCAGTGGTGGTGGTGATTATGGTGATGGTGACTATGATGGGGT AGTGATGGTGATGATAATGGTGATGGTGGTGATGGCAGTGGTGGTGGTGG TGATTATGGTGATGGTGACGATGATGGGGTAGTGATGGTGGTGGTGATGA TGGTGATAATGATGGTGGCAGTGATGGTGATGGCGATGGTAGTGGCGATG GTAGTGGTGATGACAGTGATGATAATGGTGATGATGGTGGTGATGATGTG ATGGTG	NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	1/11			chr10	TogoVar
NMT2_chr10_15100770_15173693	15149442	C C	CCACCATC others(527): Show CCACCATCACATCATCACCACCATCATCACCATTATCATCACTGTCATCA CCACTACCATCGCCACTACCATCGCCATCACCATCACTGCCACCATCATT ATCACCATCATCACCACCACCATCACTACCCCATCATCGTCACCATCACC ATAATCACCACCACCACCACTGCCATCACCACCATCACCATTATCATCAC CATCACTACCCCATCATCGTCACCATCACCATAATCACCACCACCACTGC CATCACCACCATCACCATCATCATCACCATCATTATCACCACCATCATCA CCATCATCACCACCATCACCACCATCATCATCATCACCACCATCACCATC ATCATCACCACCATCATCACCATCATTATCACCACCATGATCACCATGAT CACCACCATCATCACCATCATCATCACCATCATCACCACCATCATCATCA CCATCATCATCACCATCATCACCATCATCATCACCACCATTACCATCATC ATCACCACCATCATCATCACCATCATCACCACCAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA19030.hp2 NA19043.hp2 HG02970.hp1 NA19030.hp2 NA19043.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0016 a0001c0006t0027 a0001c0006t0016 a0001c0006t0027	a0001c0006t0016g0010 a0001c0006t0016g0014 a0001c0006t0027g0015 a0001c0006t0016g0010 a0001c0006t0016g0014 a0001c0006t0027g0015	3	276	0.0109	534	c.111 others(551): Show c.111-7886_111-7885insATGGTGGTGATGATGGTGATGATGATGG TGGTGATGATGATGGTAATGGTGGTGATGATGATGGTGATGATGGTGATG ATGATGGTGATGATGATGGTGGTGATGATGGTGATGATGATGGTGATGAT GGTGGTGATCATGGTGATCATGGTGGTGATAATGATGGTGATGATGGTGG TGATGATGATGGTGATGGTGGTGATGATGATGATGGTGGTGATGGTGGTG ATGATGGTGATGATGGTGGTGATAATGATGGTGATGATGATGGTGATGGT GGTGATGGCAGTGGTGGTGGTGATTATGGTGATGGTGACGATGATGGGGT AGTGATGGTGATGATAATGGTGATGGTGGTGATGGCAGTGGTGGTGGTGG TGATTATGGTGATGGTGACGATGATGGGGTAGTGATGGTGGTGGTGATGA TGGTGATAATGATGGTGGCAGTGATGGTGATGGCGATGGTAGTGGCGATG GTAGTGGTGATGACAGTGATGATAATGGTGATGATGGTGGTGATGATGTG ATGGTG	NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	1/11			chr10	TogoVar
NMT2_chr10_15100770_15173693	15149442	C C	CCACCATC others(527): Show CCACCATCACATCATCACCACCATCATCACCATTATCATCACTGTCATCA CCACTACCATCGCCACTACCATCGCCATCACCATCACTGCCACCATCATT ATCACCATCATCACCACCACCATCACTACCCCATCATCGTCACCATCACC ATAATCACCACCACCACCACTGCCATCACCACCATCACCATTATCATCAC CATCACTACCCCATCATCGTCACCATCACCATAATCACCACCACCACTGC CATCACCACCATCACCATCATCATCACCATCATTATCACCACCATCATCA CCATCATCACCACCATCATCACCACCATCATCATCACCACCATCACCATC ATCATCACCACCATCATCACCATCATTATCACCACCATGATCACCATGAT CACCACCATCATCACCATCATCATCACCATCATCACCACCATCATCATCA CCATCATCATCACCATCATCACCATCATCATCACCACCATTACCATCATC ATCACCACCATCATCATCACCATCATCACCACCAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03139.hp2 NA20752.hp2 HG01192.hp2 HG03139.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0041 a0001c0001t0049 a0001c0001t0022 a0001c0001t0041 a0001c0001t0049	a0001c0001t0022g0080 a0001c0001t0041g0044 a0001c0001t0049g0206 a0001c0001t0022g0080 a0001c0001t0041g0044 a0001c0001t0049g0206	3	276	0.0109	534	c.111 others(551): Show c.111-7886_111-7885insATGGTGGTGATGATGGTGATGATGATGG TGGTGATGATGATGGTAATGGTGGTGATGATGATGGTGATGATGGTGATG ATGATGGTGATGATGATGGTGGTGATGATGGTGATGATGATGGTGATGAT GGTGGTGATCATGGTGATCATGGTGGTGATAATGATGGTGATGATGGTGG TGATGATGATGGTGATGGTGGTGATGATGATGGTGGTGATGATGGTGGTG ATGATGGTGATGATGGTGGTGATAATGATGGTGATGATGATGGTGATGGT GGTGATGGCAGTGGTGGTGGTGATTATGGTGATGGTGACGATGATGGGGT AGTGATGGTGATGATAATGGTGATGGTGGTGATGGCAGTGGTGGTGGTGG TGATTATGGTGATGGTGACGATGATGGGGTAGTGATGGTGGTGGTGATGA TGGTGATAATGATGGTGGCAGTGATGGTGATGGCGATGGTAGTGGCGATG GTAGTGGTGATGACAGTGATGATAATGGTGATGATGGTGGTGATGATGTG ATGGTG	NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	1/11			chr10	TogoVar
NPBWR2_chr20_64098802_64112565	64105577	G G	GCGTGATG others(527): Show GCGTGATGATGGGGGTGATGGTGGGGGTGGTGGTGGGGGTGGGGGTGATG GTGGGGGTGGGGGTGGGGGTGATGGGGGTGGGCGTGATGGTGGATGTGAT GGGGGTGGGCATGATGATGGGCGTGATGATGGGGGTGGTGGTGGGGGTGA TGGTGGGGGTGGTGGTGGGCGTGATGATGGGGGTGATGGTGGGGGTGGTG GTGGGGGTGGGGGTGATGGTGGGGGTGGGGGTGGGGGTGATGGGGGTGGG CGTGATGGTGGATGTGATGGGGGTGGGCATGATGATGGGCGTGATGATGG GGGTGGTGGTGGGGGTGATGGTGGGGGTGGTGGTGGGCGTGATGATGGGG GTGATGGTGGGGGTGGTGGTGGGGGTGGGGGTGATGGTGGGGGTGGGGGT GGGGGTGATGGGGGTGGGCGTGATGGTGGATGTGATGGGGGTGGGCATGA TGATGGGCGTGATGATGGGGGTGGTGGTGGGGGTGATGGTGGGGGTGGTG GTGGGCGTGATGATGGGGGTGATGGTGGGGGTGGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0103 a0001c0002t0103	a0001c0002t0103g0075 a0001c0002t0103g0075	1	355	0.0028	534	c.25 others(543): Show c.252_*253insACCACCCCCACCATCACCCCCATCATCACGCCCACC ACCACCCCCACCATCACCCCCACCACCACCCCCATCATCACGCCCATCAT CATGCCCACCCCCATCACATCCACCATCACGCCCACCCCCATCACCCCCA CCCCCACCCCCACCATCACCCCCACCCCCACCACCACCCCCACCATCACC CCCATCATCACGCCCACCACCACCCCCACCATCACCCCCACCACCACCCC CATCATCACGCCCATCATCATGCCCACCCCCATCACATCCACCATCACGC CCACCCCCATCACCCCCACCCCCACCCCCACCATCACCCCCACCCCCACC ACCACCCCCACCATCACCCCCATCATCACGCCCACCACCACCCCCACCAT CACCCCCACCACCACCCCCATCATCACGCCCATCATCATGCCCACCCCCA TCACATCCACCATCACGCCCACCCCCATCACCCCCACCCCCACCCCCACC ATCACCCCCACCCCCACCACCACCCCCACCATCACCCCCATCATCACG	NPBWR2	ENSG00000125522.4	transcript	ENST00000684052.1	protein_coding	2/2	252		chr20	TogoVar
NT5DC3_chr12_103767310_103846234	103768606	G G	GGAGGGAG others(527): Show GGAGGGAGGGGGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTAGGGG GAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGAGAGGGACAGGGAC AGGGAGAGGGAGAGAGAGGGAGGGAGAGGGAGAGGGAGAGGGACAGGGAG AGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGGGAGAGG GAGGGGAGGGGGGAGAGGGGGGAGAGAGAGGGAGGGGGCGGGAGGGGAGG GAGGGGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGAGAGGGAGG GAGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGAGGGAGGGA GAGGGAGGGAGGGGGGAGGGAGAGAGATGGGGGGAGGGGGAGGGAGAGGG ATGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGACAGGGGGAGGGAGAA GGAGAGGGAGAGGGGGGAGGGAGAGGGAGAGAGAGGGAGAGGGAGAGAGA GGGAAAGGGGAGTGAGAGAGAGAGGGAGAGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0283 a0001c0003t0004g0283	1	386	0.0026	534	c.92 others(545): Show c.9222_*9223insTCCCTCTCTCCCTCTCTCTCTCACTCCCCTTTCC CTCTCTCTCCCTCTCCCTCTCTCTCCCTCTCCCTCCCCCCTCTCCCTCTC CTTCTCCCTCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCTCCCCCA TCCCTCTCCCTCCCCCTCCCCCCATCTCTCTCCCTCCCCCCTCCCTCCCT CTCCCTCCCTCTCCCTCTCCCTCTCCCTCCCTCTCCCTCCCTCTCCCTCT CCCTCCCTCTCTCCCTCTCCCTCCCTCTCCCTGTCCCTCTCCCTCCCCCT CCCTCCCCTCCCGCCCCCTCCCTCTCTCTCCCCCCTCTCCCCCCTCCCCT CCCTCTCCCCCCCTCCCCTCCCTCTCCCTCTCTCCCTCCCTCTCTCTCCC TCTCCCTGTCCCTCTCCCTCTCCCTCTCCCTCCCTCTCTCTCCCTCTCCC TGTCCCTGTCCCTCTCCTCCCCCCTCCCCCTCCCTCTCTGTCCCCCCTCT CCCCCTACCCCTCCCTCTCCCTCCCTCCCTGTCCCCCCTCCCCCTCCCTC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3703		chr12	TogoVar
OR6J1_chr14_22625929_22649352	22637544	C C	CCAGCCGC others(527): Show CCAGCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCAGTCTGGGAGGGA GGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGG TGGGGGGATCAGCCCCCCGCCCGGCCGGCCACCCCGTCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	362	0.0028	534	c.-27 others(551): Show c.-27-2707_-27-2706insCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTG ATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGTGGCCGGCCGGGCGGGGGGCTGAT CCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCC CCCCACCTCCCTCCCAGACTGGGCGGCCGGCCGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGG CGGCTG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR6J1_chr14_22625929_22649352	22637546	G G	GCCGCCCC others(527): Show GCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCAGTCTGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGTGG GGGGATCAGCCCCCCGCCCGGCCGGCCACCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	362	0.0028	534	c.-27 others(551): Show c.-27-2709_-27-2708insGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGTGGCCGGCCGGGCGGGGGGCT GATCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCAGACTGGGCGGCCGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACG GGGCGG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR6J1_chr14_22625929_22649352	22637546	G G	GCCGCCCC others(527): Show GCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCAGTCTGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGTGG GGGGATCAGCCCCCCGCCCGGCCGGCCACCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	362	0.0028	534	c.-27 others(551): Show c.-27-2709_-27-2708insGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGTGGCCGGCCGGGCGGGGGGCT GATCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCAGACTGGGCGGCCGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACG GGGCGG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR6J1_chr14_22625929_22649352	22637546	G G	GCCGCCCC others(527): Show GCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCAGTCTGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGTGG GGGGATCAGCCCCCCGCCCGGCCGGCCACCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp1 others(72): Show HG00099.hp1 HG00140.hp2 HG00323.hp1 HG00423.hp1 HG00558.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01123.hp1 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01358.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01928.hp2 HG01943.hp1 HG01975.hp1 HG02040.hp2 HG02056.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02273.hp1 HG02300.hp1 HG02486.hp2 HG02602.hp1 HG02602.hp2 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG03017.hp1 HG03239.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 NA18747.hp1 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18952.hp1 NA18962.hp2 NA18967.hp2 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18992.hp2 NA19004.hp1 NA19004.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19068.hp2 NA19088.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0012 others(3): Show a0001 a0005 a0012 a0014 a0015 a0016	a0001c0001 a0005c0005 a0012c0012 others(3): Show a0001c0001 a0005c0005 a0012c0012 a0014c0015 a0015c0013 a0016c0018	a0001c0001t0001 a0001c0001t0006 a0001c0001t0017 others(11): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0017 a0001c0001t0022 a0001c0001t0027 a0001c0001t0029 a0001c0001t0049 a0001c0001t0060 a0005c0005t0001 a0005c0005t0042 a0012c0012t0045 a0014c0015t0001 a0015c0013t0017 a0016c0018t0001	a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 others(72): Show a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0154 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0201 a0001c0001t0001g0206 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0232 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0259 a0001c0001t0006g0282 a0001c0001t0006g0283 a0001c0001t0006g0284 a0001c0001t0006g0291 a0001c0001t0006g0293 a0001c0001t0006g0310 a0001c0001t0017g0082 a0001c0001t0022g0253 a0001c0001t0027g0005 a0001c0001t0029g0202 a0001c0001t0049g0263 a0001c0001t0060g0335 a0005c0005t0001g0026 a0005c0005t0001g0030 a0005c0005t0001g0054 a0005c0005t0042g0053 a0012c0012t0045g0017 a0014c0015t0001g0101 a0015c0013t0017g0047 a0016c0018t0001g0104	75	362	0.2072	534	c.-27 others(551): Show c.-27-2709_-27-2708insGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGTGGCCGGCCGGGCGGGGGGCT GATCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCAGACTGGGCGGCCGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACG GGGCGG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR6J1_chr14_22625929_22649352	22637546	G G	GCCGCCCC others(527): Show GCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCAGTCTGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGTGG GGGGATCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02040.hp1 NA18942.hp1 HG00408.hp1 HG02040.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0039 a0001c0001t0001 a0001c0001t0039	a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0039g0198 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0039g0198	3	362	0.0083	534	c.-27 others(551): Show c.-27-2709_-27-2708insGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCT GATCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCAGACTGGGCGGCCGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACG GGGCGG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR6J1_chr14_22625929_22649352	22637546	G G	GCCGCCCC others(527): Show GCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCGTCTGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCAGTCTGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGTGG GGGGATCAGCCCCCCGCCCGGCCGGCCACCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18995.hp2 NA18943.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0226 a0001c0001t0001g0128 a0001c0001t0001g0226	2	362	0.0055	534	c.-27 others(551): Show c.-27-2709_-27-2708insGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGTGGCCGGCCGGGCGGGGGGCT GATCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCAGACTGGGCGGCCGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCAGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACG GGGCGG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
P2RX5_chr17_3668227_3701155	3685978	T T	TCCCCCGC others(527): Show TCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCC CCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACACA CAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCCGCCCAGC CTCAGAACAGGAGAACGCACAGCGGGACCCCCAGGGACCCTCCCAACGTC CCCCTCCCAGCCTGAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACC CTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACA GCGGGGCCCCCAGGGACCCTCCCAGCGTCCCCCGGCTCTCCCCCCCTCCC GCCCAGCCTCAGAACAGGAGAACGCACAGCGGGACCCCCAGGGACCCTCC CAACGTCCCCCTCCCAGCCTCAGAACAGGAGAACGCACAGCGGGACCCCC AGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACA GCGGGACCCCCAGGGACCCTCCCAACGTCCCCCGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	362	0.0028	534	c.981 others(551): Show c.981+2033_981+2034insGCGGGGGACGTTGGGAGGGTCCCTGGGG GTCCCGCTGTGCGTTCTCCTGTTCTCAGGCTGGGAGGGGGACGTTGGGAG GGTCCCTGGGGGTCCCGCTGTGCGTTCTCCTGTTCTGAGGCTGGGAGGGG GACGTTGGGAGGGTCCCTGGGGGTCCCGCTGTGCGTTCTCCTGTTCTGAG GCTGGGCGGGAGGGGGGGAGAGCCGGGGGACGCTGGGAGGGTCCCTGGGG GCCCCGCTGTGCGTTCTCCTGTTCTGAGGCTGGGCGGGGGGCGGGGGACG TTGGGAGGGTCCCTGGGGGCCCAGCTGTGTGTTCTCCTGTTCTCAGGCTG GGAGGGGGACGTTGGGAGGGTCCCTGGGGGTCCCGCTGTGCGTTCTCCTG TTCTGAGGCTGGGCGGGGGGGCGGGGGACGTTGGGAGGGTCCCTGGGGGC CCCGCTGTGTGTTCTCCTGTTCTCAGGCTGGGAGGGGGACGTTGGGAGGG TCCCTGGGGGCCCCGCTGTGCGTTCTCCTGTTCTGAGGCTGGGCGGGGGG CGGGGG	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
PIGQ_chr16_564968_589109	571108	T T	TGTGTGTG others(527): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTG TGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTG TGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATG TGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCC CGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGC CTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCG TGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCCTTGT GTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGT GTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTG TGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCC	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0252 a0002c0001t0001g0252	1	408	0.0025	534	c.-10 others(551): Show c.-10+1012_-10+1013insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGTG TGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTG TGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGTCTGGCTAGCCTG GTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGGC GCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCT AGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATGT GTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGT GGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGT CTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGG CTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTG GCACCC	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10			chr16	TogoVar
PLLP_chr16_57251097_57289672	57286634	C C	CCTTGGCC others(527): Show CCTTGGCCTCCCAAAGGGCTGGGATTACAGGCATCAGCCACTGGGCCCAG CCCTGACTAATTTTTTTAAATTTTTTTGTAGAGATGGGGTCTCTCCATGT TGCCCAGACTGGTTTCGCACTCCTGGCCTCAAGCGATCCACCCGCCTTGG CCTTTCAAAGTGCTGGAATTACAGGTGTGAGCCACCATGCCCAGCCCTAA CTGTAACTTTGTACCTGTTAACCAACCTCTTTGTATCCTCCCACTACACC CCAGCCTCCTGTAACCACTATTCTACTCTACTATGAGATCAATTTATTTA TTTATTTATTTGAGATGGCGTTTTGCTCTTGTTGCCCAGTCTGGAGTGCA ATGGCGTGACCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAAT TCTCTTGCCTGAGTAGCTCGGATTACAGGCGCCCGCCAGCACGCTAAGCT AATTTTTTGTAATTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGCT GGTATCAAACTCCTGAAATCAGGTGATCCACCTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	370	0.0027	534	c.-20 others(545): Show c.-2095_-2094insACAGGTGGATCACCTGATTTCAGGAGTTTGATAC CAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAATTACAAAAAAT TAGCTTAGCGTGCTGGCGGGCGCCTGTAATCCGAGCTACTCAGGCAAGAG AATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGGTCACGCCA TTGCACTCCAGACTGGGCAACAAGAGCAAAACGCCATCTCAAATAAATAA ATAAATAAATTGATCTCATAGTAGAGTAGAATAGTGGTTACAGGAGGCTG GGGTGTAGTGGGAGGATACAAAGAGGTTGGTTAACAGGTACAAAGTTACA GTTAGGGCTGGGCATGGTGGCTCACACCTGTAATTCCAGCACTTTGAAAG GCCAAGGCGGGTGGATCGCTTGAGGCCAGGAGTGCGAAACCAGTCTGGGC AACATGGAGAGACCCCATCTCTACAAAAAAATTTAAAAAAATTAGTCAGG GCTGGGCCCAGTGGCTGATGCCTGTAATCCCAGCCCTTTGGGAGGCCAAG	PLLP	ENSG00000102934.10	transcript	ENST00000219207.10	protein_coding		1963		chr16	TogoVar

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Search Results (Total: 10000 hits)