Joint Open Genome and Omics Platform (JoGo)

Search by Variant

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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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
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(344): Show TCCTCTCCCTCTCCCTCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCACTCCCTCTCCCTCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCCTCTCCCTCCTCTCCCTCACTCTCCCTCTCCCTCACTCTCCCTCT CC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	1	370	0.0027	351	c.-27 others(362): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGTGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGA GGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(344): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCACTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCCTCTCCCTCCTCTCCCTCACTCTCCCTCTCCCTCACTCTCCCTCT CC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0016 a0002c0002t0001g0016	1	370	0.0027	351	c.-27 others(362): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGTGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(344): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCACTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCCTCTCCCTCCTCTCCCTCACTCTCCCTCTCCCTCACTCTCCCTCT CC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0026 a0001c0001t0003g0026	1	370	0.0027	351	c.-27 others(362): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGTGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(344): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCCTCTCCCTCCTCTCCCTCACTCTCCCTCTCCCTCACTCTCCCTCT CC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02818.hp2 HG02886.hp2 others(3): Show HG02622.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG03130.hp1 NA19043.hp1	a0003 a0005 a0003 a0005	a0003c0003 a0005c0005 a0003c0003 a0005c0005	a0003c0003t0007 a0003c0003t0008 a0005c0005t0007 a0003c0003t0007 a0003c0003t0008 a0005c0005t0007	a0003c0003t0007g0017 a0003c0003t0008g0011 a0005c0005t0007g0018 others(1): Show a0003c0003t0007g0017 a0003c0003t0008g0011 a0005c0005t0007g0018 a0005c0005t0007g0037	6	370	0.0162	351	c.-27 others(362): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
L3MBTL4_chr18_5949717_6419911	6272376	C C	CGCCTTCA others(344): Show CGCCTTCAGGAGCACGGGGAAAGGGGGAGTTGTGCAGATTCAACTAGGAC TGAATATAAGGAACACAGAACAGTTCTGACAGCCCCACTGCATTAAACTG GTGGTTCTACAGAGCGGCGCCTTCAGGAGCACGGGGAAAGGGGGAGTTGT GCAGATTCAACTAGGACTGAATATAAGGAACACAGAAGAGTTCTGACAGC CCCACTGCATTAAACTGGTGGTTCTACAGAGCGGCGCCTTCAGGAGCACG GGGAAAGGGGGAGTTGTGCAAATTCAACTAGGACTGAATATAAGGAATAC AGAACAGTTCTGACAGCCCCACTGCATTAAACTGGTGGTTCTACAGAGCG GT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0025 a0002c0002t0001g0025	1	94	0.0106	351	c.128 others(368): Show c.128-8689_128-8339dupACCGCTCTGTAGAACCACCAGTTTAATG CAGTGGGGCTGTCAGAACTGTTCTGTATTCCTTATATTCAGTCCTAGTTG AATTTGCACAACTCCCCCTTTCCCCGTGCTCCTGAAGGCGCCGCTCTGTA GAACCACCAGTTTAATGCAGTGGGGCTGTCAGAACTCTTCTGTGTTCCTT ATATTCAGTCCTAGTTGAATCTGCACAACTCCCCCTTTCCCCGTGCTCCT GAAGGCGCCGCTCTGTAGAACCACCAGTTTAATGCAGTGGGGCTGTCAGA ACTGTTCTGTGTTCCTTATATTCAGTCCTAGTTGAATCTGCACAACTCCC CCTTTCCCCGTGCTCCTGAAGGC	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	4/18			chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	6272439	C C	CACAGAAG others(344): Show CACAGAAGAGTTCTGACAGCCCCACTGCATTAAACTGGTGGTTCTACAGA GCGGTACCTTCAGGAGCATGGGGAAAGGGGGAGTTGTGCAAATTCAACTA GGACTGAATATAAGGAACACAGAACAGTTCTGACAGCCCCACTGCATTAA ACTGGTGGTTCTACAGAGCGGTGCCTTCAGGAGCACGGGGAAAGGGGGAG TTGTGCAGATTCAACTAGGACTGAATATAAGGAACACAGAACAGTTCTGA CAGCCCCACTGCATTAAACTGGTGGTTCTACAGAGCGGTGCCTTCAGGAG CACGGGGAAAGGGGGAGTTGTGCAGATTCAACTAGGACTGAATATAAGGA AT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0050 a0002c0002t0001g0050	1	94	0.0106	351	c.128 others(368): Show c.128-8402_128-8401insATTCCTTATATTCAGTCCTAGTTGAATC TGCACAACTCCCCCTTTCCCCGTGCTCCTGAAGGCACCGCTCTGTAGAAC CACCAGTTTAATGCAGTGGGGCTGTCAGAACTGTTCTGTGTTCCTTATAT TCAGTCCTAGTTGAATCTGCACAACTCCCCCTTTCCCCGTGCTCCTGAAG GCACCGCTCTGTAGAACCACCAGTTTAATGCAGTGGGGCTGTCAGAACTG TTCTGTGTTCCTTATATTCAGTCCTAGTTGAATTTGCACAACTCCCCCTT TCCCCATGCTCCTGAAGGTACCGCTCTGTAGAACCACCAGTTTAATGCAG TGGGGCTGTCAGAACTCTTCTGT	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	4/18			chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	6272529	G G	GATTCAAC others(344): Show GATTCAACTAGGACTGAATATAAGGAATACAGAACAGTTCTGACAGCCCC ACTGCATTAAACTGGTGGTTCTACAGAGCGGTGCCTTCAGGAGCATGGGG AAAGGGGGAGTTGTGCAAATTCAACTAGGACTGAATATAAGGAATACAGA ACAGTTCTGACAGCCCCACTGCATTAAACTGGTGGTTCTACAGAGCGGTA CCTTCAGGAGCATGGGGAAAGGGGGAGTTGTGCAAATTCAACTAGGACTG AATATAAGGAACACAGAACAGTTCTGACAGCCCCACTGCATTAAACTGGT GGTTCTACAGAGCGGTGCCTTCAGGAGCACGGGGAAAGGGAGAGTTGTGC AA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0041 a0001c0001t0003g0041	1	94	0.0106	351	c.128 others(368): Show c.128-8492_128-8491insTTGCACAACTCTCCCTTTCCCCGTGCTC CTGAAGGCACCGCTCTGTAGAACCACCAGTTTAATGCAGTGGGGCTGTCA GAACTGTTCTGTGTTCCTTATATTCAGTCCTAGTTGAATTTGCACAACTC CCCCTTTCCCCATGCTCCTGAAGGTACCGCTCTGTAGAACCACCAGTTTA ATGCAGTGGGGCTGTCAGAACTGTTCTGTATTCCTTATATTCAGTCCTAG TTGAATTTGCACAACTCCCCCTTTCCCCATGCTCCTGAAGGCACCGCTCT GTAGAACCACCAGTTTAATGCAGTGGGGCTGTCAGAACTGTTCTGTATTC CTTATATTCAGTCCTAGTTGAAT	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	4/18			chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	6272529	G G	GATTCAAC others(344): Show GATTCAACTAGGACTGAATATAAGGAATACAGAACAGTTCTGACAGCCCC ACTGCATTAAACTGGTGGTTCTACAGAGCGGTGCCTTCAGGAGCATGGGG AAAGGGGGAGTTGTGCAAATTCAACTAGGACTGAATATAAGGAATACAGA AGAGTTCTGACAGCCCCACTGCATTAAACTGGTGGTTCTACAGAGCGGTA CCTTCAGGAGCATGGGGAAAGGGGGAGTTGTGCAAATTCAACTAGGACTG AATATAAGGAACACAGAACAGTTCTGACAGCCCCACTGCATTAAACTGGT GGTTCTACAGAGCGGTGCCTTCAGGAGCACGGGGAAAGGGAGAGTTGTGC AA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01099.hp1 HG01099.hp2 others(41): Show HG00558.hp1 HG01099.hp1 HG01099.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02080.hp1 HG02258.hp2 HG02280.hp1 HG02559.hp2 HG02622.hp2 HG02809.hp1 HG02818.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03492.hp2 HG03579.hp1 HG03579.hp2 HG03834.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA19002.hp2 NA19009.hp2 NA19030.hp2 NA19043.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0003 a0001c0007 others(5): Show a0001c0001 a0001c0003 a0001c0007 a0001c0008 a0002c0002 a0002c0006 a0004c0009 a0005c0010	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(11): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0003t0002 a0001c0003t0005 a0001c0007t0002 a0001c0008t0009 a0002c0002t0001 a0002c0006t0001 a0004c0009t0002 a0005c0010t0002	a0001c0001t0002g0014 a0001c0001t0002g0026 a0001c0001t0002g0029 others(41): Show a0001c0001t0002g0014 a0001c0001t0002g0026 a0001c0001t0002g0029 a0001c0001t0002g0044 a0001c0001t0002g0062 a0001c0001t0002g0067 a0001c0001t0002g0092 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0030 a0001c0001t0003g0048 a0001c0001t0003g0069 a0001c0001t0004g0015 a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0004g0076 a0001c0001t0005g0040 a0001c0001t0005g0046 a0001c0001t0005g0088 a0001c0001t0007g0077 a0001c0001t0008g0070 a0001c0003t0002g0056 a0001c0003t0005g0002 a0001c0007t0002g0081 a0001c0008t0009g0009 a0002c0002t0001g0013 a0002c0002t0001g0018 a0002c0002t0001g0022 a0002c0002t0001g0035 a0002c0002t0001g0042 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0061 a0002c0002t0001g0064 a0002c0002t0001g0066 a0002c0002t0001g0071 a0002c0002t0001g0073 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0090 a0002c0006t0001g0051 a0004c0009t0002g0012 a0005c0010t0002g0089	44	94	0.4681	351	c.128 others(368): Show c.128-8492_128-8491insTTGCACAACTCTCCCTTTCCCCGTGCTC CTGAAGGCACCGCTCTGTAGAACCACCAGTTTAATGCAGTGGGGCTGTCA GAACTGTTCTGTGTTCCTTATATTCAGTCCTAGTTGAATTTGCACAACTC CCCCTTTCCCCATGCTCCTGAAGGTACCGCTCTGTAGAACCACCAGTTTA ATGCAGTGGGGCTGTCAGAACTCTTCTGTATTCCTTATATTCAGTCCTAG TTGAATTTGCACAACTCCCCCTTTCCCCATGCTCCTGAAGGCACCGCTCT GTAGAACCACCAGTTTAATGCAGTGGGGCTGTCAGAACTGTTCTGTATTC CTTATATTCAGTCCTAGTTGAAT	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	4/18			chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	6272563	G G	GAGTTCTG others(344): Show GAGTTCTGACAGCCCCACTGCATTAAACTGGTGGTTCTACAGAGCGGTGC CTTCAGGAGCATGGGGAAAGGGGGAGTTGTGCAAATTCAACTAGGACTGA ATATAAGGAATACAGAAGAGTTCTGACAGCCCCACTGCATTAAACTGGTG GTTCTACAGAGCGGTACCTTCAGGAGCATGGGGAAAGGGGGAGTTGTGCA AATTCAACTAGGACTGAATATAAGGAACACAGAACAGTTCTGACAGCCCC ACTGCATTAAACTGGTGGTTCTACAGAGCGGTGCCTTCAGGAGCACGGGG AAAGGGAGAGTTGTGCAAATTCAACTAGGACTGAATATAAGGAATACAGA AC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01081.hp2 HG00639.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0004 a0001c0001t0008g0005 a0001c0001t0003g0004 a0001c0001t0008g0005	2	94	0.0213	351	c.128 others(368): Show c.128-8526_128-8525insGTTCTGTATTCCTTATATTCAGTCCTAG TTGAATTTGCACAACTCTCCCTTTCCCCGTGCTCCTGAAGGCACCGCTCT GTAGAACCACCAGTTTAATGCAGTGGGGCTGTCAGAACTGTTCTGTGTTC CTTATATTCAGTCCTAGTTGAATTTGCACAACTCCCCCTTTCCCCATGCT CCTGAAGGTACCGCTCTGTAGAACCACCAGTTTAATGCAGTGGGGCTGTC AGAACTCTTCTGTATTCCTTATATTCAGTCCTAGTTGAATTTGCACAACT CCCCCTTTCCCCATGCTCCTGAAGGCACCGCTCTGTAGAACCACCAGTTT AATGCAGTGGGGCTGTCAGAACT	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	4/18			chr18	TogoVar
LDAH_chr2_20679031_20828101	20738374	A A	ATATATAT others(344): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCTCTCTGTCGCCCAGGCTGGAGTGCAGTGG CGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCC CGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCC GGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTCCCTATATA TT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0218 a0001c0001t0003g0218	1	258	0.0039	351	c.703 others(368): Show c.703+1596_703+1597insAATATATAGGGAGGGCCGGGCGCGGTGG CTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACG AGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCC CAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGG AGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAG AGAGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA ATATATATATATATATATATATA	LDAH	ENSG00000118961.15	transcript	ENST00000237822.8	protein_coding	5/6			chr2	TogoVar
LMF1_chr16_848634_975984	857751	G G	GAGTGGTG others(344): Show GAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGT GTCACGGGATGGGTGTGCAGTGGTGTCACGGGATGGGTGTGCAGTGGTGT CTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCA CGGGATGGGTGTGCAGTGGTGTCACGGGATGGGTGTGCAGTGGTGTCTCG GGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCACGGGAT GGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGT GT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0004 a0004	a0004c0025 a0004c0025	a0004c0025t0007 a0004c0025t0007	a0004c0025t0007g0294 a0004c0025t0007g0294	1	294	0.0034	351	c.153 others(370): Show c.1530-3046_1530-3045insACACCCATCCCGAGACACCACTCACA CCCATCCCGAGACACCACTCACACCCATCCCGTGACACCACTCACACCCA TCCCGTGACACCACTCACACCCATCCCGAGACACCACTGCACACCCATCC CGTGACACCACTGCACACCCATCCCGTGACACCACTGCACACCCATCCCG AGACACCACTGCACACCCATCCCGAGACACCACTGCACACCCATCCCGTG ACACCACTGCACACCCATCCCGTGACACCACTGCACACCCGTCCCGAGAC ACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCA CTCACACCCGTCCCGTGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	857751	G G	GAGTGGTG others(344): Show GAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGT GTCACGGGATGGGTGTGCAGTGGTGTCACGGGATGGGTGTGCAGTGGTGT CTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCA CGGGATGGGTGTGCAGTGGTGTCACGGGATGGGTGTGCAGTGGTGTCTCG GGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCTCGGGAT GGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGT GT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0004 a0004	a0004c0043 a0004c0043	a0004c0043t0003 a0004c0043t0003	a0004c0043t0003g0119 a0004c0043t0003g0119	1	294	0.0034	351	c.153 others(370): Show c.1530-3046_1530-3045insACACCCATCCCGAGACACCACTCACA CCCATCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACACCCA TCCCGTGACACCACTCACACCCATCCCGAGACACCACTGCACACCCATCC CGTGACACCACTGCACACCCATCCCGTGACACCACTGCACACCCATCCCG AGACACCACTGCACACCCATCCCGAGACACCACTGCACACCCATCCCGTG ACACCACTGCACACCCATCCCGTGACACCACTGCACACCCGTCCCGAGAC ACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCA CTCACACCCGTCCCGTGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858237	G G	GCGTGGTG others(344): Show GCGTGGTGTCTCGGGATGGGTGTGCGTGGTGTCTCGGGATGGGTGTGAGT GGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCAGTGGT GTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTC ACGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCTCGG GATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATG GGTGTGCAGTGGTGTCACGGGATGGGTGTGCAGTGGTGTCTCGGGATGGG TGTGCGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGT GC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0004 a0004	a0004c0029 a0004c0029	a0004c0029t0003 a0004c0029t0003	a0004c0029t0003g0203 a0004c0029t0003g0203	1	294	0.0034	351	c.153 others(370): Show c.1530-3532_1530-3531insGCACACCCATCCCGAGACACCACTGC ACACCCATCCCGAGACACCACGCACACCCATCCCGAGACACCACTGCACA CCCATCCCGTGACACCACTGCACACCCATCCCGAGACACCACTCACACCC ATCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACACCCATCC CGTGACACCACTCACACCCATCCCGTGACACCACTCACACCCATCCCGAG ACACCACTGCACACCCATCCCGAGACACCACTGCACACCCATCCCGAGAC ACCACTCACACCCATCCCGAGACACCACTCACACCCATCCCGAGACACCA CGCACACCCATCCCGAGACACCACG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	859395	T T	TGTCACGG others(344): Show TGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTG TCACGGGACGGGTGTGAGTGATGTCACGGGACGGGTGTGAGTGGTGTCTC GAGACGGGTGTGCAGTGATGTCTCGGGACGGGTGTGCAGTGATGTCACGG GACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGAC GGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGATGTCACGGGACGGG TGTGCAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGT GAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGCAG TG	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18944.hp2 NA18971.hp2 others(1): Show HG02083.hp1 NA18944.hp2 NA18971.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0011 a0001c0001 a0001c0003 a0001c0011	a0001c0001t0001 a0001c0003t0001 a0001c0011t0001 a0001c0001t0001 a0001c0003t0001 a0001c0011t0001	a0001c0001t0001g0123 a0001c0001t0001g0226 a0001c0003t0001g0202 others(1): Show a0001c0001t0001g0123 a0001c0001t0001g0226 a0001c0003t0001g0202 a0001c0011t0001g0159	4	294	0.0136	351	c.153 others(370): Show c.1530-4690_1530-4689insCACTGCACACCCGTCCCGTGACACCA CTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCA CACCCGTCCCGTGACACCACTGCACACCCGTCCCGTGACATCACTGCACA CCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCG TCCCGAGACACCACTGCACACCCGTCCCGTGACATCACTGCACACCCGTC CCGAGACATCACTGCACACCCGTCTCGAGACACCACTCACACCCGTCCCG TGACATCACTCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGTGA CACCACTGCACACCCGTCCCGTGAC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LOC114841035_chr11_64236095_64249132	64237081	C C	CGAGAGAG others(344): Show CGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG AGGGAGGGAGGGAGGGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGAGAGAGAGAGAGAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG AGGGAGGGAGGGAGGGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	330	0.0030	351	c.-41 others(362): Show c.-4199_-4198insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGGGA GGGAGGGAGGGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAG	LOC114841035	ENSG00000286264.2	transcript	ENST00000652762.2	protein_coding		4013		chr11	TogoVar
LRBA_chr4_150259435_151020284	150372750	G G	GCAGTAAG others(344): Show GCAGTAAGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCCCGCTGTTTAGCCCAGG CCGGATTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCGTGTTAGCCAAGATGGTCTCGATCTCCTGACCTTGTGATCCGCCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCA GC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0003 a0003	a0003c0023 a0003c0023	a0003c0023t0003 a0003c0023t0003	a0003c0023t0003g0069 a0003c0023t0003g0069	1	180	0.0056	351	c.719 others(372): Show c.7195-22592_7195-22591insGCTGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAG ATCGAGACCATCTTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGT GAGCCGAGATTGCGCCACTGCAATCCGGCCTGGGCTAAACAGCGGGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAGAACTTACTG	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	47/56			chr4	TogoVar
LRRC23_chr12_6899822_6919229	6909259	T T	TTATATAA others(344): Show TTATATAATATATAATATATATATTATTATATATATAATAATATATATAT AATATATAATTATACATAATATATAATATATAATTATAATATATAATATA TATTATATATTAATATATAATATATAAATAATAATATATAATATATAATT AATATTATATAATAATATATAATTATATATAATATATAATTATATATTAT ATAATAATATATAATTATATATAATATATAATTATAATTATATAATAACA TATAATGTATATATAATATATAAAAATATATAAATATATAATATATAATA TATAAATATATATAATATATAATTATATATAATATATAAATATATATAAT AG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0148 a0002c0002t0002g0148	1	316	0.0032	351	c.622 others(366): Show c.622-625_622-624insATATATAATATATATATTATTATATATATA ATAATATATATATAATATATAATTATACATAATATATAATATATAATTAT AATATATAATATATATTATATATTAATATATAATATATAAATAATAATAT ATAATATATAATTAATATTATATAATAATATATAATTATATATAATATAT AATTATATATTATATAATAATATATAATTATATATAATATATAATTATAA TTATATAATAACATATAATGTATATATAATATATAAAAATATATAAATAT ATAATATATAATATATAAATATATATAATATATAATTATATATAATATAT AAATATATATAATAGTATATA	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
LRRC74A_chr14_76821408_76875304	76867095	T T	TGGGGGGT others(344): Show TGGGGGGTGTGTGTTGGGGGGATGGGGTGTGTGTGTGGTAGTGTGTGGGG GGGTGTGTGTGTTGGGGGTGGGGTGTGTGTGTTGGGGGGTGGGGTGTGTG TGTGTGGTAGTGTGTGTGTGGGTGTGTGTGTGTTGGGGGGGTGGGGTGTG TGTGTTGGGGGGTGGGGTGTGTGTGTGTGTGGTAGTGTGTGTGGGGTGTG TGGGTGTGTTGGGGGGTGGGGTGTGTGTGTGGGGGGGGTGTGTTGGGGGA TGGGGTGTGTGTGTGGTAGTGTGTGGGGGGGTGTGTGGGTGTGTTGGGGG GTGGGGTGTGTGTGTGTGGGGGGGGTGTGTTGGGGGGTGGGGTGTGTGTG TG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0008 a0001c0018t0008	a0001c0018t0008g0061 a0001c0018t0008g0061	1	408	0.0025	351	c.130 others(368): Show c.1309-217_1309-216insTGGGGGGGTGTGTGTGTTGGGGGTGGGG TGTGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGGTAGTGTGTGTGTGGGT GTGTGTGTGTTGGGGGGGTGGGGTGTGTGTGTTGGGGGGTGGGGTGTGTG TGTGTGTGGTAGTGTGTGTGGGGTGTGTGGGTGTGTTGGGGGGTGGGGTG TGTGTGTGGGGGGGGTGTGTTGGGGGATGGGGTGTGTGTGTGGTAGTGTG TGGGGGGGTGTGTGGGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGGGGGG GGTGTGTTGGGGGGTGGGGTGTGTGTGTGGGGGGGTGTGTGTTGGGGGGA TGGGGTGTGTGTGTGGTAGTGTG	LRRC74A	ENSG00000100565.16	transcript	ENST00000689127.1	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
LRRC7_chr1_69562922_70149364	69774871	T T	TAGAAAAA others(344): Show TAGAAAAAGACAAAGAGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGA CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA AAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCCTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0069 a0001c0001t0068g0069	1	108	0.0093	351	c.303 others(370): Show c.303+14493_303+14494insGAGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGA GATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCCTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAGAAAAAGACAAAGA	LRRC7	ENSG00000033122.21	transcript	ENST00000651989.2	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
LURAP1_chr1_46198334_46226256	46213358	A A	AAAGTATA others(344): Show AAAGTATATAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCCAGACTGC GGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGC CCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGG CC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp2 HG01109.hp1 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0120 a0001c0001t0001g0057 a0001c0001t0001g0120	2	356	0.0056	351	c.199 others(368): Show c.199-6324_199-6323insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCCAGA CTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CTGGCCAAGTATATAAATTTTTT	LURAP1	ENSG00000171357.6	transcript	ENST00000371980.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN1A2_chr1_117362449_117533872	117430025	T T	TGGGGGGC others(344): Show TGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCC CTCCCGGACAGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCG GGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAT GC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03834.hp2 HG03831.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0125 a0001c0001t0135 a0001c0001t0125 a0001c0001t0135	a0001c0001t0125g0096 a0001c0001t0135g0085 a0001c0001t0125g0096 a0001c0001t0135g0085	2	370	0.0054	351	c.855 others(368): Show c.855+9420_855+9421insCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCAGACGGGGCGGCTGGCC GGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCG GGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCATGCGGGGGGCTGACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGC	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
MIA3_chr1_222613097_222673007	222645833	T T	TGTGTTGG others(344): Show TGTGTTGGTAAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC TGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGC CCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG CC	intron_variant intron_variant	MODIFIER	HG01099.hp2 NA18984.hp1 HG01099.hp2 NA18984.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0032 a0002c0001t0002g0032	2	370	0.0054	351	c.360 others(368): Show c.3609+164_3609+165insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACA GGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCCGTGTTGGTAAATTCTT	MIA3	ENSG00000154305.18	transcript	ENST00000344922.10	protein_coding	7/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
MICAL3_chr22_17782649_18029561	17876829	T T	TGGAGGTT others(344): Show TGGAGGTTATGGCAGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAG GTTATGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGTTAAGGAGGTTAG GGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGG TTATGGAGGTTAGGGAGGTTATGGAGGTTATGGCAGTTATGGAGGTTAGG GAGATTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGCTTATGGAGGT TAGGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTATGGCAGTTATGG AGGTTAGGGAGATTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTT AG	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	274	0.0037	351	c.224 others(370): Show c.2242-4807_2242-4806insCTAACCTCCATAACCTCCATAACTTC CCTAACCTCCATAATCTCCCTAACCTCCATAACTGCCATAACCTCCATAA CTTCCCTAACCTCCCTAACCTCCCTAACCTCCATAAGCTCCCTAACCTCC ATAACCTCCCTAACCTCCATAATCTCCCTAACCTCCATAACTGCCATAAC CTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCC TAACCTCCATAACCTCCATAACTTCCCTAACCTCCTTAACCTCCCTAACC TCCATAAGCTCCCTAACCTCCATAACCTCCCTAACCTCCATAATCTCCCT AACCTCCATAACTGCCATAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17876883	G G	GGGAGCTT others(344): Show GGGAGCTTATGGAGGTTAGGGAGGTTAAGGAGGTTAGGGAAGTTATGGAG GTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGCTTATGGAGGTTAG GGAGGTTAAGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGTTAAGGAGG TTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTATG GCAGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTATGGAGGT TAGGGAGCTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAAGTTATGG AGGTTATGGCAGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAAGTT AT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	274	0.0037	351	c.224 others(370): Show c.2242-4861_2242-4860insATAACTTCCCTAACCTCCATAATCTC CCTAACCTCCATAACTGCCATAACCTCCATAACTTCCCTAACCTCCCTAA CCTCCCTAACCTCCATAAGCTCCCTAACCTCCATAACCTCCCTAACCTCC ATAATCTCCCTAACCTCCATAACTGCCATAACCTCCATAACCTCCCTAAC CTCCCTAACCTCCATAACTTCCCTAACCTCCTTAACCTCCCTAACCTCCA TAAGCTCCCTAACCTCCTTAACCTCCCTAACCTCCATAAGCTCCCTAACC TCCATAACCTCCCTAACCTCCATAACCTCCATAACTTCCCTAACCTCCTT AACCTCCCTAACCTCCATAAGCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877167	G G	GTGAGGGA others(344): Show GTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAT GGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTGAGGGAGGTTATGGAGG TTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTATGGAGGTTATG GAGGTGAGGGAGGTTATGGAGGTTATGGAGGTTATGGAGGTGAGGGAGGT TATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGG AGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTG AGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGA GA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0014 a0014	a0014c0026 a0014c0026	a0014c0026t0008 a0014c0026t0008	a0014c0026t0008g0245 a0014c0026t0008g0245	1	274	0.0037	351	c.224 others(370): Show c.2242-5145_2242-5144insTCTCCCTAACCTCCCTAACCTCCATA ACCTCCCTCACCTCCATAACCTCCCTCACCTCCCTAACCTCCCTAACCTC CATAACCTCCCTCACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAA CCTCCATAACCTCCCTCACCTCCATAACCTCCCTCACCTCCATAACCTCC ATAACCTCCATAACCTCCCTCACCTCCATAACCTCCATAACCTCCATAAC CTCCCTCACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCA TAACCTCCATAACTTCCCTAACCTCCATAACCTCCCTAACCTCCATAACC TCCCTAACCTCCATAACCTCCCTCA	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877207	T T	TGGAGGTG others(344): Show TGGAGGTGAGGGAGGTTAGGGAGGTTAGGGAGATTATGGAGGTTAGGGAG GTTAAGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAT GGAGGTTATGGCAGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAGG TTAAGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATG GAGGTTAGGGAAGTTATGGAGGTTATGGCAGTTATGGAGGTTAGGGAGAT TATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGG AGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTATGGAGGTT AG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0002 a0005c0008t0002	a0005c0008t0002g0168 a0005c0008t0002g0168	1	274	0.0037	351	c.224 others(370): Show c.2242-5185_2242-5184insCTAACCTCCATAACCTCCATAACCTC CCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAA CCTCCATAACTTCCCTAACCTCCATAATCTCCCTAACCTCCATAACTGCC ATAACCTCCATAACTTCCCTAACCTCCATAACCTCCCTAACCTCCCTAAC CTCCATAACTTCCCTAACCTCCTTAACCTCCCTAACCTCCATAATCTCCC TAACCTCCATAACTGCCATAACCTCCATAACCTCCCTAACCTCCCTAACC TCCATAACTTCCCTAACCTCCTTAACCTCCCTAACCTCCATAATCTCCCT AACCTCCCTAACCTCCCTCACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877513	G G	GGGAGGTT others(344): Show GGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAG GTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAT GGAGGTTAGGGAGGTTATGGAGGTTATGGAGGTTATGGAGGTTAGGGAGG TTAGGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTAGGGAAGTTATG GAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGT GAGGGAGGTTATGGAGGTGAGGGAGGTTAGGGAAGTTATGGAGGTTATGG AGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTT AT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0120 a0002c0003t0002g0120	1	274	0.0037	351	c.224 others(370): Show c.2242-5491_2242-5490insATAACCTCCCTCACCTCCATAACCTC CCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCATAACTTCCCTAA CCTCCCTCACCTCCATAACCTCCCTCACCTCCCTAACCTCCCTAACCTCC ATAACCTCCCTAACCTCCATAACCTCCATAACTTCCCTAACCTCCCTCAC CTCCATAACCTCCCTAACCTCCCTAACCTCCCTAACCTCCATAACCTCCA TAACCTCCATAACCTCCCTAACCTCCATAACCTCCATAACCTCCCTAACC TCCATAACCTCCCTAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCT AACCTCCATAACCTCCCTAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MIOX_chr22_50481859_50495648	50493679	G G	GGCATGGT others(344): Show GGCATGGTGGTGCATGCCTGTAATTCCAGCTACTGGAGAGGCTGAGGCAG GAGAATCATCTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCTCG CCACTGCACTCAAGCTTGGACAACAGAGCCAGACTCCATCTCAAAAAACA AACAAGCAAAAACGAATGGTTCTGGACAAATAGAATATTCACATGCAGAA AAATGAAGTTGGGCCGGGCACGGTGGCTCACGCCTGTAAACCCAGCACTT TGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAATTTGAGGCCATC CTGGCTAACATGGTGAAACCCTGTCTCTACTGAAAATACAAAAATTAGCT GT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0001 a0008c0014t0001	a0008c0014t0001g0001 a0008c0014t0001g0001	1	436	0.0023	351	c.38 others(362): Show c.3823_*3824insGCATGGTGGTGCATGCCTGTAATTCCAGCTACTG GAGAGGCTGAGGCAGGAGAATCATCTGAGCCCGGGAGGCAGAGGTTGCAG TGAGCCGAGATCTCGCCACTGCACTCAAGCTTGGACAACAGAGCCAGACT CCATCTCAAAAAACAAACAAGCAAAAACGAATGGTTCTGGACAAATAGAA TATTCACATGCAGAAAAATGAAGTTGGGCCGGGCACGGTGGCTCACGCCT GTAAACCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAG GAATTTGAGGCCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTGAAA ATACAAAAATTAGCTGT	MIOX	ENSG00000100253.13	transcript	ENST00000216075.11	protein_coding		3032		chr22	TogoVar
MMACHC_chr1_45495300_45518382	45497762	T T	TGTCAGCC others(344): Show TGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAAGTGG GGGGGTCAGCCCCCCGCCAGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGG GG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00408.hp2 others(148): Show HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00609.hp2 HG00642.hp1 HG00673.hp1 HG00741.hp1 HG01074.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01516.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02602.hp2 HG02622.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG04199.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18944.hp2 NA18947.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18963.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18975.hp1 NA18976.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18984.hp2 NA18985.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19043.hp2 NA19054.hp1 NA19055.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19068.hp1 NA19072.hp1 NA19075.hp1 NA19077.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp2 NA19084.hp1 NA19089.hp1 NA19090.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA21309.hp2	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0006 a0008	a0001c0001 a0001c0002 a0001c0005 others(5): Show a0001c0001 a0001c0002 a0001c0005 a0001c0010 a0003c0004 a0005c0009 a0006c0011 a0008c0007	a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 others(41): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0031 a0001c0001t0032 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0043 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0060 a0001c0001t0063 a0001c0001t0064 a0001c0001t0066 a0001c0001t0069 a0001c0001t0078 a0001c0002t0007 a0001c0002t0057 a0001c0005t0028 a0001c0005t0072 a0001c0005t0073 a0001c0005t0074 a0001c0005t0076 a0001c0010t0002 a0003c0004t0001 a0003c0004t0005 a0003c0004t0007 a0005c0009t0068 a0006c0011t0002 a0008c0007t0002	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0007 others(88): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0016 a0001c0001t0002g0021 a0001c0001t0002g0025 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0044 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0101 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0115 a0001c0001t0002g0118 a0001c0001t0006g0002 a0001c0001t0006g0007 a0001c0001t0006g0020 a0001c0001t0006g0102 a0001c0001t0006g0103 a0001c0001t0006g0107 a0001c0001t0008g0002 a0001c0001t0008g0003 a0001c0001t0008g0016 a0001c0001t0008g0041 a0001c0001t0008g0042 a0001c0001t0008g0093 a0001c0001t0008g0100 a0001c0001t0014g0002 a0001c0001t0014g0003 a0001c0001t0015g0002 a0001c0001t0015g0003 a0001c0001t0015g0021 a0001c0001t0016g0012 a0001c0001t0016g0094 a0001c0001t0016g0119 a0001c0001t0019g0003 a0001c0001t0019g0042 a0001c0001t0020g0012 a0001c0001t0020g0039 a0001c0001t0023g0002 a0001c0001t0023g0007 a0001c0001t0024g0018 a0001c0001t0024g0074 a0001c0001t0024g0079 a0001c0001t0025g0018 a0001c0001t0025g0077 a0001c0001t0025g0081 a0001c0001t0031g0018 a0001c0001t0031g0058 a0001c0001t0032g0002 a0001c0001t0032g0016 a0001c0001t0039g0018 a0001c0001t0040g0078 a0001c0001t0042g0114 a0001c0001t0043g0043 a0001c0001t0045g0043 a0001c0001t0046g0003 a0001c0001t0047g0098 a0001c0001t0048g0002 a0001c0001t0049g0016 a0001c0001t0050g0002 a0001c0001t0051g0002 a0001c0001t0060g0112 a0001c0001t0063g0020 a0001c0001t0064g0002 a0001c0001t0066g0039 a0001c0001t0069g0070 a0001c0001t0078g0116 a0001c0002t0007g0001 a0001c0002t0007g0031 a0001c0002t0057g0071 a0001c0005t0028g0011 a0001c0005t0072g0011 a0001c0005t0073g0011 a0001c0005t0074g0011 a0001c0005t0076g0083 a0001c0010t0002g0025 a0003c0004t0001g0006 a0003c0004t0001g0014 a0003c0004t0005g0006 a0003c0004t0007g0014 a0005c0009t0068g0002 a0006c0011t0002g0104 a0008c0007t0002g0002	151	386	0.3912	351	c.-25 others(362): Show c.-2571_-2570insGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGT CCGGGAGGGAAGTGGGGGGGTCAGCCCCCCGCCAGGCCAGCCGCCCCGTC TGGGAGGGAGGTGGGGG	MMACHC	ENSG00000132763.15	transcript	ENST00000401061.9	protein_coding		2537		chr1	TogoVar
MMACHC_chr1_45495300_45518382	45497762	T T	TGTCAGCC others(344): Show TGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCAGTCCGGGAGGGAAGTGG GGGGGTCAGCCCCCCGCCAGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGG GG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0095 a0001c0001t0044g0095	1	386	0.0026	351	c.-25 others(362): Show c.-2571_-2570insGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCAGT CCGGGAGGGAAGTGGGGGGGTCAGCCCCCCGCCAGGCCAGCCGCCCCGTC TGGGAGGGAGGTGGGGG	MMACHC	ENSG00000132763.15	transcript	ENST00000401061.9	protein_coding		2537		chr1	TogoVar
MMP26_chr11_4699784_4997429	4729984	A A	ACAGCCCT others(344): Show ACAGCCCTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTG CGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGC CCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG CC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	206	0.0049	351	c.-21 others(372): Show c.-217+24953_-217+24954insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCC GCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCA TGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCCAGCCCTCATTTTT	MMP26	ENSG00000167346.9	transcript	ENST00000380390.6	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
MNAT1_chr14_60729761_60974965	60916312	T T	TTAAAAAT others(344): Show TTAAAAATAGAATAAAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTGGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0192 a0001c0001t0002g0192	1	272	0.0037	351	c.809 others(370): Show c.809+36492_809+36493insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGAT CGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTGGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAATAAAAATAGAATAAA	MNAT1	ENSG00000020426.11	transcript	ENST00000261245.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
MOSPD2_chrX_14868421_14927327	14899114	T T	TGAACTAG others(344): Show TGAACTAGAAAGTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCACCCAGGCTGGAGTACAGTGGCGCAGCCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTTTATTTTTAGT AGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGATCCACCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCGCGCCCG GC	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19091.hp1 NA19012.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0176 a0001c0001t0001g0177	2	268	0.0075	351	c.478 others(368): Show c.478-1444_478-1443insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCACCCAGGCTGGAGTACAGTGGCGCAGCCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCCGAGTAGC TGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTTTATTTT TAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGATCC ACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCGCG CCCGGCGAACTAGAAAGTCTTTC	MOSPD2	ENSG00000130150.12	transcript	ENST00000380492.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chrX	TogoVar
MPPED1_chr22_43407014_43512848	43500074	A A	AGGTGGTG others(344): Show AGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGATG GTGATGGAGGTGGTGATGGTGGTGATGGGGGTGGTGGTGGTGATGGTGAT GGAGGTGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGTGATGGGGG TGGTGGTGGTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATG GTGATGGAGGTGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGTGGT GGTGATGGTGGTGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGG TGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGCGGTGGTGATGGGG GT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	250	0.0040	351	c.748 others(368): Show c.748+1731_748+1732insATGGGGGTGGTGGTGGTGATGGTGATGG AGGTGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGATGGGGGTGGTG GTGGTGATGGTGATGGAGGTGGCAGTGATGATGGTGGTGATGGTGATGGA GGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGGGG TGGTGGTGGTGATGGTGATGGAGGTGGCAGTGATGATGGTGGTGATGGTG ATGGAGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGGGGTGGTGGTGGT GATGGTGATGGAGGTGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGG CGGTGGTGATGGGGGTGGTGGTG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED2_chr11_30405224_30591353	30557225	A A	AATATATA others(344): Show AATATATATATATTATATATATTATATAATAAATATATATATAATATATA TATAAATATATATTATATATATTATATATAATATATATTATATATATAAT ATATATATAATATATATATTATATATATATAATATATATATTATATATAT TATATATAATATATATTATATATATAATATATATATAATATATATATTAT ATATATATAATATATATATTATATATATTATATATAATATATATTATATA TATAATATATATATAATATATATATTATATATATTATATATAATATATAT TATATATATAATATATATATAATATATATATTATATATATAATATATATA TT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0120 a0001c0001t0005g0120	1	262	0.0038	351	c.129 others(370): Show c.129-21051_129-21050insAATATATATATTATATATATAATATA TATATTATATATATATTATATATATAATATATATTATATATAATATATAT AATATATATATTATATATATATTATATATATAATATATATTATATATAAT ATATATAATATATATATTATATATATATAATATATATATTATATATATAT TATATATATAATATATATTATATATAATATATATAATATATATATTATAT ATATATAATATATATATTATATATATATTATATATATAATATATATTATA TATAATATATATAATATATATTTATATATATATTATATATATATTTATTA TATAATATATATAATATATATATAT	MPPED2	ENSG00000066382.17	transcript	ENST00000358117.10	protein_coding	2/6			chr11	TogoVar
MROH9_chr1_170930534_171069765	170994904	T T	TAAGATTA others(344): Show TAAGATTATAGCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0004 a0003c0006t0004	a0003c0006t0004g0140 a0003c0006t0004g0140	1	226	0.0044	351	c.119 others(368): Show c.1195-470_1195-469insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCG AGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGC CGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAGATTATAGCCCAG	MROH9	ENSG00000117501.15	transcript	ENST00000367759.9	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
MSH4_chr1_75791882_75918242	75885668	T T	TTATTATA others(344): Show TTATTATATATTATAATATATTATATATTATATATTATAATATATATACC TGATATATTTAAGGTATTATATATAATACCTTATATATTATATATATAAT ACCTTATAAGGTATTATATATAATATTATATATAAAATATATATTATATA TTATATATAATATATATTATATATAATATATAAATGTATATATTATATAT TATACATATATATTATATACATATATTATATATAATATATATTTTATATA TTATATATGTATATATGTAATATATATAACCTTCACATTTATTTCAGTTA TATAATGTGAAGGTAATATATATATGTTATTTTGTGTATATATAAAGTAT TA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01891.hp1 HG02280.hp2 others(8): Show HG01192.hp2 HG01891.hp1 HG02280.hp2 HG02615.hp1 HG02717.hp1 HG02922.hp2 HG02970.hp2 HG03098.hp1 HG03486.hp1 NA18522.hp1 NA19240.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0020 a0001c0004t0001g0023 a0001c0004t0001g0024 others(8): Show a0001c0004t0001g0020 a0001c0004t0001g0023 a0001c0004t0001g0024 a0001c0004t0001g0025 a0001c0004t0001g0026 a0001c0004t0001g0027 a0001c0004t0001g0028 a0001c0004t0001g0029 a0001c0004t0001g0030 a0001c0004t0001g0031 a0001c0004t0001g0032	11	332	0.0331	351	c.210 others(370): Show c.2107+1850_2107+1851insTATATATTATAATATATTATATATTA TATATTATAATATATATACCTGATATATTTAAGGTATTATATATAATACC TTATATATTATATATATAATACCTTATAAGGTATTATATATAATATTATA TATAAAATATATATTATATATTATATATAATATATATTATATATAATATA TAAATGTATATATTATATATTATACATATATATTATATACATATATTATA TATAATATATATTTTATATATTATATATGTATATATGTAATATATATAAC CTTCACATTTATTTCAGTTATATAATGTGAAGGTAATATATATATGTTAT TTTGTGTATATATAAAGTATTATAT	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	15/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
MSLN_chr16_755734_773862	767619	G G	GGCGTGGA others(344): Show GGCGTGGAGGAGGGGCGCGCTGGAGGGGGGCCGTGTGGGGGGGCGTGGAG GAGGGGCGTGTGGAGGGGGGCGCGTGGGGGGGGGCGCATGGGGGGGCGTG GAGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGG GGGGTGTGGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGA GGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGGCGTGGAGGAGGGGCGC GTGGAGGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTG TGGGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGG GC	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	388	0.0026	351	c.159 others(368): Show c.1596+167_1596+168insCTGGAGGGGGGCCGTGTGGGGGGGCGTG GAGGAGGGGCGTGTGGAGGGGGGCGCGTGGGGGGGGGCGCATGGGGGGGC GTGGAGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATG GGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGT GGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGGCGTGGAGGAGGGG CGCGTGGAGGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGT GTGTGGGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGA GGGGCGCGTGGAGGAGGGGCGCG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MYT1_chr20_64159452_64247253	64233262	T T	TCCCCTTT others(344): Show TCCCCTTTCCCTCCTCCCCTCTTCCCTCCCTCTCTCTCCTCCCCCTCCCC TCTTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCC CTCCCTCTCCCTCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCACCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTT CCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTCCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTC TTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCTCCCCTCTCCCT TC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0086 a0001c0006t0001g0086	1	223	0.0045	351	c.289 others(368): Show c.2897+879_2897+880insCCTTTCCCTCCTCCCCTCTTCCCTCCCT CTCTCTCCTCCCCCTCCCCTCTTCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCTCCCTCCCCTTCCCCTCCCTCTCCCTCCCTCCCCCCTCCCCTCCC CCTCCCCTCCCCACCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCC TCTCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCC CTCCCCTTCCCCTCCCCTCTTCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTTCCCCTCCCCTCTCCCTTCCC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NAV2_chr11_19707837_20126601	19941447	T T	TAATAAAT others(344): Show TAATAAATAGCATGAGGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCTGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0005 a0003c0005t0005	a0003c0005t0005g0131 a0003c0005t0005g0131	1	166	0.0060	351	c.214 others(370): Show c.2146+1693_2146+1694insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGAT CGAGACCATCCTGGCTAACAAGGTGAAACCCTGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAATAAATAGCATGAGGTTG	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	8/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV2_chr11_19707837_20126601	19941447	T T	TAATAAAT others(344): Show TAATAAATAGCATGAGGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCTGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAATAAATAAATAAATAAATAAATAAA TA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0076 a0001c0076	a0001c0076t0015 a0001c0076t0015	a0001c0076t0015g0089 a0001c0076t0015g0089	1	166	0.0060	351	c.214 others(370): Show c.2146+1693_2146+1694insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGAT CGAGACCATCCTGGCTAACAAGGTGAAACCCTGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAATAAATAAATAAATAAATAAA TAAATAAATAAATAGCATGAGGTTG	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	8/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NCAPG2_chr7_158626169_158709804	158667406	T T	TCCCTTAC others(344): Show TCCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTC CCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACT ACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCT TACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCC GCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGG GTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTAC CCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCC CG	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0312 a0001c0001t0001g0312	1	378	0.0027	351	c.148 others(370): Show c.1480-2657_1480-2656insCGGGCGGAGGGACCCAGTAGTGGGTA AGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAG TAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGA GGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGG AGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGT GGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGAC CCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGC GGAGGGACCCAGTAGTGGGTAAGGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCEH1_chr3_172625249_172716067	172690951	T T	TCTGTGGG others(344): Show TCTGTGGGGAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGC GGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCC CGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC CC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0008 a0001c0001t0010g0008	1	332	0.0030	351	c.138 others(370): Show c.138+19895_138+19896insGGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAG ATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGT GAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAATTTCCCCACAG	NCEH1	ENSG00000144959.11	transcript	ENST00000475381.7	protein_coding	1/4			chr3	TogoVar
NFATC2_chr20_51381963_51547719	51500818	A A	ACCACCCC others(344): Show ACCACCCCCCACCACCCCCACCCTCACCCCCACCCCACCCTCACCCCCAC CCCACCCTCACCCTCACCCCACCCCCACCCTCACCCCCACCCCACCCTCA CCCCCACTACCCCCACCCTCACCCCACCCTCACCCTCACCCCCACCCCAC CCTCACCCCCACCCCACCCTCACCCTCACCCCACCCCCACCCTCACCCCC ACCCCACCCTCACCCCCACTACCCCCACCCTCACCCCACCCTCACCCTCA CCCCCACCCCACCCTCACCCTCACCCCACCCTCACCCTCACCCCCACCCC ACCCCCACCCTCACCCTCACCCCCATCCTCACCCTCACCCTCACCCCCAC CC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG06807.hp1 NA21309.hp1 HG02922.hp1 HG06807.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0048 a0001c0003t0002 a0001c0003t0005 a0001c0001t0048 a0001c0003t0002 a0001c0003t0005	a0001c0001t0048g0219 a0001c0003t0002g0250 a0001c0003t0005g0259 a0001c0001t0048g0219 a0001c0003t0002g0250 a0001c0003t0005g0259	3	316	0.0095	351	c.133 others(372): Show c.1332+15965_1332+15966insGGGTGGGGGTGAGGGTGAGGGTGA GGATGGGGGTGAGGGTGAGGGTGGGGGTGGGGTGGGGGTGAGGGTGAGGG TGGGGTGAGGGTGAGGGTGGGGTGGGGGTGAGGGTGAGGGTGGGGTGAGG GTGGGGGTAGTGGGGGTGAGGGTGGGGTGGGGGTGAGGGTGGGGGTGGGG TGAGGGTGAGGGTGGGGTGGGGGTGAGGGTGGGGTGGGGGTGAGGGTGAG GGTGGGGTGAGGGTGGGGGTAGTGGGGGTGAGGGTGGGGTGGGGGTGAGG GTGGGGGTGGGGTGAGGGTGAGGGTGGGGTGGGGGTGAGGGTGGGGTGGG GGTGAGGGTGGGGGTGGTGGGGGGTGG	NFATC2	ENSG00000101096.20	transcript	ENST00000371564.8	protein_coding	3/10			chr20	TogoVar
NFATC4_chr14_24363184_24384601	24364746	A A	ATATATAG others(344): Show ATATATAGTATATCTGTGTATATGCTATATAGTATAGTGTATAGTATATC TGTGTATATATAGTATATCTGTACATATATACATATATAGTATATATATA GTATATCTGTGTATATGCTATATAGTATAGTGTATAGTATATCTGTGTAT ATATAGTATATCTGTACATATATACATATATAGTATATATATAGTATATC TGTACATATATACATATATAGTATATATATAGTATATCTGTACATATATA CATATATAGTATATATATAGTATATCTGTGTATATGCTATATAGTATAGT GTATAGTATATCTGTGTATATATAGTATATCTGTACATATATACATATAT AG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	394	0.0025	351	c.-35 others(362): Show c.-3595_-3594insTATATAGTATATCTGTGTATATGCTATATAGTAT AGTGTATAGTATATCTGTGTATATATAGTATATCTGTACATATATACATA TATAGTATATATATAGTATATCTGTGTATATGCTATATAGTATAGTGTAT AGTATATCTGTGTATATATAGTATATCTGTACATATATACATATATAGTA TATATATAGTATATCTGTACATATATACATATATAGTATATATATAGTAT ATCTGTACATATATACATATATAGTATATATATAGTATATCTGTGTATAT GCTATATAGTATAGTGTATAGTATATCTGTGTATATATAGTATATCTGTA CATATATACATATATAG	NFATC4	ENSG00000100968.14	transcript	ENST00000250373.9	protein_coding		3437		chr14	TogoVar
NFILZ_chr19_8625633_8686151	8656477	T T	TCTCTGAA others(344): Show TCTCTGAAGCCCACCTCCTCCCGCAGCGCACCTCCTCCCTGAAGCCCCCT TCTTCCTGAAGCCCACCTCTTCCCTGAAGCCCACCTCTTCCCTGAAGCCC ACCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTTCTCCCGCAGC CCACCTTCTCTCTGAAACCCACCTCTTTCCGCAGCCCACCTTCTCTCTGA AACCCACCTCTTTCCGCAGCCCACCTTCTCTCTGAAACCCACCTCTTTCC GCAGCCCACCTTCTCTCTGAAACCCACCTCTTTCCGCAGCCCACCTTCTC CTCGAAGCCCACCTTCTCCTGCAGCCCACCTTCTCCTGAAGCCCACCTTC TC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0015 a0015	a0015c0015 a0015c0015	a0015c0015t0055 a0015c0015t0055	a0015c0015t0055g0097 a0015c0015t0055g0097	1	366	0.0027	351	c.-16 others(372): Show c.-163-18073_-163-18072insTCTGAAGCCCACCTCCTCCCGCAG CGCACCTCCTCCCTGAAGCCCCCTTCTTCCTGAAGCCCACCTCTTCCCTG AAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTGCAGCCCACCTTCTCT CTGAAGCCCACCTTCTCCCGCAGCCCACCTTCTCTCTGAAACCCACCTCT TTCCGCAGCCCACCTTCTCTCTGAAACCCACCTCTTTCCGCAGCCCACCT TCTCTCTGAAACCCACCTCTTTCCGCAGCCCACCTTCTCTCTGAAACCCA CCTCTTTCCGCAGCCCACCTTCTCCTCGAAGCCCACCTTCTCCTGCAGCC CACCTTCTCCTGAAGCCCACCTTCTCC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8656482	C C	CAGCGCAC others(344): Show CAGCGCACCTCCTCCCTGAAGCCCCCTTCTTCCTGAAGCCCACCTCTTCC CTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTGCAGCCCACCTTC TCTCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTGCAGCCCACC TTCTCTCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTGCAGCCC ACCTTCTCTCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTGCAG CCCACCTTCTCTCTGAAGCCCACCTTCTCCCGCAGCCCACCTTCTCTCTG AAACCCACCTCTTTCCGCAGCCCACCTTCTCCTGCAGCCCACCTTCTCCT GA	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0296 a0001c0001t0020g0296	1	366	0.0027	351	c.-16 others(372): Show c.-163-18066_-163-18065insGCACCTCCTCCCTGAAGCCCCCTT CTTCCTGAAGCCCACCTCTTCCCTGAAGCCCACCTCTTCCCTGAAGCCCA CCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTCTTCCCTGAAGC CCACCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTCTTCCCTGA AGCCCACCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTCTTCCC TGAAGCCCACCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTTCT CCCGCAGCCCACCTTCTCTCTGAAACCCACCTCTTTCCGCAGCCCACCTT CTCCTGCAGCCCACCTTCTCCTGAAGC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8656482	C C	CAGCGCAC others(344): Show CAGCGCACCTCCTCCCTGAAGCCCCCTTCTTCCTGAAGCCCACCTCTTCC CTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTGCAGCCCACCTTC TCTCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTGCAGCCCACC TTCTCTCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTGCAGCCC ACCTTCTCTCTGAAGCCCACCTTCTCCCGCAGCCCACCTTCTCTCTGAAA CCCACCTCTTTCCGCAGCCCACCTTCTCCTGCAGCCCACCTTCTCCTGAA GCCCACCTTCTCCCTGAAGCCCACCTTCTCCTGAAGCCCACCTTCTCCCT GA	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0039 a0002c0002t0039	a0002c0002t0039g0275 a0002c0002t0039g0275	1	366	0.0027	351	c.-16 others(372): Show c.-163-18066_-163-18065insGCACCTCCTCCCTGAAGCCCCCTT CTTCCTGAAGCCCACCTCTTCCCTGAAGCCCACCTCTTCCCTGAAGCCCA CCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTCTTCCCTGAAGC CCACCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTCTTCCCTGA AGCCCACCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTTCTCCC GCAGCCCACCTTCTCTCTGAAACCCACCTCTTTCCGCAGCCCACCTTCTC CTGCAGCCCACCTTCTCCTGAAGCCCACCTTCTCCCTGAAGCCCACCTTC TCCTGAAGCCCACCTTCTCCCTGAAGC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP14_chr11_7015479_7076526	7071557	T T	TAAGAATG others(344): Show TAAGAATGCAGGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATC CTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTG CGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp2 NA20805.hp2 HG02273.hp2 NA20805.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0001 a0006c0008t0001 a0001c0001t0001 a0006c0008t0001	a0001c0001t0001g0106 a0006c0008t0001g0014 a0001c0001t0001g0106 a0006c0008t0001g0014	2	346	0.0058	351	c.24 others(360): Show c.249_*250insAAGAATGCAGGTGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGA GATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAG	NLRP14	ENSG00000158077.5	transcript	ENST00000299481.5	protein_coding		32		chr11	TogoVar
NME4_chr16_392199_405754	397703	G G	GGGGGGTG others(344): Show GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTG GGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCGGGGG GT	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	356	0.0028	351	c.91+ others(364): Show c.91+393_91+394insGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar

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