Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MFSD3_chr8_144504070_144516213	144513791	C C	CGTGGGGA others(293): Show CGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG03139.hp2 HG03516.hp1 others(4): Show HG02738.hp1 HG03139.hp2 HG03516.hp1 HG03831.hp2 NA18612.hp1 NA19043.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0001t0003 a0001c0012t0001 a0001c0001t0001 a0001c0001t0003 a0001c0012t0001	a0001c0001t0001g0001 a0001c0001t0003g0001 a0001c0012t0001g0001 a0001c0001t0001g0001 a0001c0001t0003g0001 a0001c0012t0001g0001	7	342	0.0205	300	c.26 others(311): Show c.2627_*2628insGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCG	MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding		2579		chr8	TogoVar
MFSD3_chr8_144504070_144516213	144513804	G G	GAGGGGTC others(293): Show GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG01884.hp2 others(18): Show HG01109.hp2 HG01884.hp1 HG01884.hp2 HG02145.hp1 HG02258.hp2 HG02300.hp1 HG02615.hp2 HG02698.hp1 HG02922.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp2 NA18948.hp2 NA18949.hp1 NA18963.hp2 NA18973.hp2 NA18984.hp2 NA19030.hp1 NA19080.hp2	a0001 a0007 a0008 a0001 a0007 a0008	a0001c0001 a0001c0014 a0007c0011 others(1): Show a0001c0001 a0001c0014 a0007c0011 a0008c0009	a0001c0001t0001 a0001c0001t0007 a0001c0014t0001 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0014t0001 a0007c0011t0001 a0008c0009t0001	a0001c0001t0001g0001 a0001c0001t0007g0001 a0001c0014t0001g0001 others(2): Show a0001c0001t0001g0001 a0001c0001t0007g0001 a0001c0014t0001g0001 a0007c0011t0001g0001 a0008c0009t0001g0001	21	368	0.0571	300	c.26 others(311): Show c.2640_*2641insAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGTGAGT	MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding		2592		chr8	TogoVar
MFSD3_chr8_144504070_144516213	144513834	A A	GAGGGGTC others(293): Show GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG02280.hp1 HG02683.hp1 others(5): Show HG01106.hp2 HG02280.hp1 HG02683.hp1 HG03491.hp1 HG03540.hp1 NA18952.hp1 NA18989.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	8	206	0.0388	300	c.26 others(310): Show c.2670delAinsGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGT	MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding		2621		chr8	TogoVar
MFSD3_chr8_144504070_144516213	144513834	A A	GAGGGGTC others(293): Show GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGTAGGGGTCGGCGTGGGCGGTGGGGAGTGAG T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00733.hp2 HG02148.hp2 others(19): Show HG00323.hp2 HG00733.hp2 HG02148.hp2 HG02818.hp1 HG02965.hp1 HG03098.hp1 HG03239.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp2 NA18970.hp2 NA18971.hp2 NA18999.hp2 NA19005.hp1 NA19005.hp2 NA19012.hp2 NA19068.hp1 NA19074.hp1 NA19077.hp2 NA19087.hp2 NA19240.hp1 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0008 a0003c0004 a0001c0001 a0001c0008 a0003c0004	a0001c0001t0001 a0001c0008t0001 a0003c0004t0001 a0001c0001t0001 a0001c0008t0001 a0003c0004t0001	a0001c0001t0001g0001 a0001c0008t0001g0001 a0003c0004t0001g0001 a0001c0001t0001g0001 a0001c0008t0001g0001 a0003c0004t0001g0001	22	220	0.1000	300	c.26 others(310): Show c.2670delAinsGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGTAGGGGTCGGCGTGGG CGGTGGGGAGTGAGT	MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding		2621		chr8	TogoVar
MID2_chrX_107820866_107936637	107910768	T T	TTTTCCTT others(293): Show TTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	102	0.0098	300	c.107 others(319): Show c.1074-5164_1074-5163insTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCC	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
MLLT3_chr9_20336669_20627499	20564340	T T	TAGAAAAG others(293): Show TAGAAAAGAGATGGCTCCACTTTGGGAGGCCGAGGCGGGCGGATCACGAG GTCAGGAGATCGAGACCATCCCGGCTAAAATGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCCGGGCGCAGTGGTGGGCGCCTGTAGTCCCA GCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	167	0.0060	300	c.193 others(319): Show c.193+56313_193+56314insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAG TGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACTGC GCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATTTTA GCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTC CCAAAGTGGAGCCATCTCTTTTCT	MLLT3	ENSG00000171843.17	transcript	ENST00000380338.9	protein_coding	2/10			chr9	TogoVar
MMD2_chr7_4900998_4964187	4959821	G G	GGGTGGAG others(293): Show GGGTGGAGGGAGTGGAAAGTGGGGGGGTTGGGGGGAGTGGGGGACCTGGG GGTGGAGGAAGTGGGGGGTTCGTGGGAAGAAGGGGACCTGGAGGTGGAGG GAGTGGGAAGTCGGGGTGTTGGGGGGGGAGTGAGGGGGTTAGTGGGAAGA GAGGGACTTGGAGGTTGGGGGAGTGGGAAGTGGGGGTGTTGGAGGGAGTG GGGGACCTGGGGGTGGGTGGGAGTGGGAAGTGGGGGTGTTGGGGGGGGAG TGAGGGGGTTAGTGGGAAGAGAGGGACTTGGAGGTTGGGGGAGTGGGAAG T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	275	0.0036	300	c.-80 others(309): Show c.-805_-804insACTTCCCACTCCCCCAACCTCCAAGTCCCTCTCTTC CCACTAACCCCCTCACTCCCCCCCCAACACCCCCACTTCCCACTCCCACC CACCCCCAGGTCCCCCACTCCCTCCAACACCCCCACTTCCCACTCCCCCA ACCTCCAAGTCCCTCTCTTCCCACTAACCCCCTCACTCCCCCCCCAACAC CCCGACTTCCCACTCCCTCCACCTCCAGGTCCCCTTCTTCCCACGAACCC CCCACTTCCTCCACCCCCAGGTCCCCCACTCCCCCCAACCCCCCCACTTT CCACTCCCTCCACC	MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding		635		chr7	TogoVar
MMS22L_chr6_97137161_97288216	97260908	G G	GGTGGTGG others(293): Show GGTGGTGGTGTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0036 a0011c0012t0036	a0011c0012t0036g0287 a0011c0012t0036g0287	1	290	0.0034	300	c.942 others(317): Show c.942+2426_942+2427insTTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAACACCACCAC	MMS22L	ENSG00000146263.12	transcript	ENST00000683635.1	protein_coding	9/24			chr6	TogoVar
MPPED1_chr22_43407014_43512848	43500145	G G	GTGGGGGT others(293): Show GTGGGGGTGATGGTGGTGATGGTGATGGAGGTGGCAGTGATGATGGTGGT GATGGTGATGGAGGTGGCGGTGGTGATGGTGGTGGTGGTGATGGGGGTGG TGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGGTG GAGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGT GATGGTGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGGTGG TGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTG A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	147	0.0068	300	c.748 others(317): Show c.748+1803_748+1804insATGGTGGTGATGGTGATGGAGGTGGCAG TGATGATGGTGGTGATGGTGATGGAGGTGGCGGTGGTGATGGTGGTGGTG GTGATGGGGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGT GATGGTGGTGGTGGAGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGG GGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGGTGGAGGTG GTGGTGGTGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGT GATGGAGGTGGTGATGGGGGTG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MS4A4E_chr11_60195270_60248137	60206479	A A	ATATATAT others(293): Show ATATATATATGTATATATATATATGTATATATATATGTATATATATATGT ATATATATGTATATATATGTATATATATGTATATATATGTGTATATATGT ATATATATGTATATATATGTATATATATATGTGTATATATATGTATATAT ATGTATATATATGTGTATATATATGTATATATATGTATATATATGTATAT ATATGTATATATATGTATATATATGTATATATATGTATATATATGTATAT ATATGTATATATATATGTATATATATGTATATATATATGTATATATATAT G	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18970.hp2 NA18971.hp1 others(2): Show NA18963.hp1 NA18970.hp2 NA18971.hp1 NA19058.hp1 NA19083.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0006 a0003c0004t0003g0006	5	369	0.0136	300	c.484 others(315): Show c.484-660_484-659insCATATATATATACATATATATATACATATA TATACATATATATATACATATATATACATATATATACATATATATACATA TATATACATATATATACATATATATACATATATATACATATATATACATA TATATACACATATATATACATATATATACATATATATACACATATATATA TACATATATATACATATATATACATATATACACATATATATACATATATA TACATATATATACATATATATACATATATATATACATATATATATACATA TATATATATACATATATATA	MS4A4E	ENSG00000214787.11	transcript	ENST00000651255.1	protein_coding	6/8			chr11	TogoVar
MS4A4E_chr11_60195270_60248137	60206479	A A	ATATATAT others(293): Show ATATATATATGTATATATATATATGTATATATATATGTATATATATATGT ATATATATGTATATATATGTATATATATGTATATATATGTGTATATATGT ATATATATGTATATATATGTATATATATATGTGTATATATATGTATATAT ATGTATATATATGTGTATATATATGTATATATATGTATATATGTATATAT ATGTATATATATGTATATATATGTATATATATGTATATATATGTATATAT ATATGTATATATATATGTATATATATGTATATATATATGTATATATATAT G	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18982.hp1 NA18956.hp2 NA18982.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0003 a0003c0004t0001 a0003c0004t0003	a0003c0004t0001g0178 a0003c0004t0003g0179 a0003c0004t0001g0178 a0003c0004t0003g0179	2	366	0.0055	300	c.484 others(315): Show c.484-660_484-659insCATATATATATACATATATATATACATATA TATACATATATATATACATATATATATACATATATATACATATATATACA TATATATACATATATATACATATATATACATATATACATATATATACATA TATATACACATATATATACATATATATACATATATATACACATATATATA TACATATATATACATATATATACATATATACACATATATATACATATATA TACATATATATACATATATATACATATATATATACATATATATATACATA TATATATATACATATATATA	MS4A4E	ENSG00000214787.11	transcript	ENST00000651255.1	protein_coding	6/8			chr11	TogoVar
MS4A4E_chr11_60195270_60248137	60206512	T T	TGTATATA others(293): Show TGTATATATATATGTATATATATGTATATATATATGTATATATATGTATA TATATGTATATATATATGTATATATATATGTATATATATATGTATATATA TATGTATATATATATGTATATATATATGTATATATATATGTATATATATA TGTATATATATATGTATATATATATGTATATATATATGTATATATATATG TATATATATATGTATATATATATATGTATATATATATGTATATATATATG TATATATATATGTATATATATATGTATATATATATGTATATATATATATA C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0186 a0001c0001t0027g0186	1	59	0.0169	300	c.484 others(315): Show c.484-693_484-692insGTATATATATATATACATATATATATACAT ATATATATACATATATATATACATATATATATACATATATATATACATAT ATATATATACATATATATATACATATATATATACATATATATATACATAT ATATATACATATATATATACATATATATATACATATATATATACATATAT ATATACATATATATATACATATATATATACATATATATATACATATATAT ATACATATATATATACATATATATACATATATATACATATATATATACAT ATATATACATATATATATAC	MS4A4E	ENSG00000214787.11	transcript	ENST00000651255.1	protein_coding	6/8			chr11	TogoVar
MSH3_chr5_80649652_80881815	80693279	A A	ATATGTTT others(293): Show ATATGTTTATATAAATATGCACATGTATATGTTTAAATATGCACATGTAT ATGTTTAGATAAATATACATGCACATGTATGTGTTTAGATAAATATACAT GCACATGTATGTGTTTAGATAAATATACATGCACATGTATATGTTTATAT AGATAAATATACATGCACATGTATATGTTTATATAGATAAATATACATGC ACATGTATGTTTATATAGATAAATATACATGCACATGTATGTTTATATAG ATAAATATACATGCACATGTATGTTTATATAGATAAATATACATGCACAT G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00558.hp2 HG00639.hp2 others(43): Show HG00280.hp2 HG00558.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG01069.hp1 HG01175.hp1 HG01256.hp1 HG01261.hp1 HG01516.hp1 HG01928.hp1 HG01975.hp2 HG02004.hp2 HG02015.hp2 HG02056.hp2 HG02074.hp1 HG02129.hp1 HG02145.hp2 HG02257.hp1 HG03491.hp1 HG03492.hp1 HG03654.hp1 HG03834.hp2 NA18941.hp1 NA18943.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18964.hp2 NA18966.hp1 NA18974.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18984.hp2 NA18989.hp1 NA18990.hp1 NA18999.hp2 NA19009.hp2 NA19058.hp1 NA19063.hp2 NA19066.hp1 NA19070.hp2 NA19084.hp2 NA19087.hp2 NA19088.hp1	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0032	a0001c0001 a0002c0007 a0008c0009 others(1): Show a0001c0001 a0002c0007 a0008c0009 a0032c0034	a0001c0001t0002 a0002c0007t0008 a0008c0009t0002 others(2): Show a0001c0001t0002 a0002c0007t0008 a0008c0009t0002 a0008c0009t0016 a0032c0034t0002	a0001c0001t0002g0039 a0001c0001t0002g0044 a0001c0001t0002g0049 others(43): Show a0001c0001t0002g0039 a0001c0001t0002g0044 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0159 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0181 a0001c0001t0002g0182 a0002c0007t0008g0297 a0008c0009t0002g0041 a0008c0009t0002g0077 a0008c0009t0002g0081 a0008c0009t0016g0040 a0032c0034t0002g0061	46	280	0.1643	300	c.134 others(321): Show c.1340+14198_1340+14199insAATATGCACATGTATATGTTTAAA TATGCACATGTATATGTTTAGATAAATATACATGCACATGTATGTGTTTA GATAAATATACATGCACATGTATGTGTTTAGATAAATATACATGCACATG TATATGTTTATATAGATAAATATACATGCACATGTATATGTTTATATAGA TAAATATACATGCACATGTATGTTTATATAGATAAATATACATGCACATG TATGTTTATATAGATAAATATACATGCACATGTATGTTTATATAGATAAA TATACATGCACATGTATGTTTATATA	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
MSH3_chr5_80649652_80881815	80693279	A A	ATATGTTT others(293): Show ATATGTTTATATAAATATGCACATGTATATGTTTAAATATGCACATGTAT ATGTTTAGATAAATATACATGCACATGTATGTGTTTAGATAAATATACAT GCACATGTATGTGTTTAGATAAATATACATGCACATGTATATGTTTATAT AGCTAAATATACATGCACATGTATATGTTTATATAGATAAATATACATGC ACATGTATGTTTATATAGATAAATATACATGCACATGTATGTTTATATAG ATAAATATACATGCACATGTATGTTTATATAGATAAATATACATGCACAT G	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	235	0.0043	300	c.134 others(321): Show c.1340+14198_1340+14199insAATATGCACATGTATATGTTTAAA TATGCACATGTATATGTTTAGATAAATATACATGCACATGTATGTGTTTA GATAAATATACATGCACATGTATGTGTTTAGATAAATATACATGCACATG TATATGTTTATATAGCTAAATATACATGCACATGTATATGTTTATATAGA TAAATATACATGCACATGTATGTTTATATAGATAAATATACATGCACATG TATGTTTATATAGATAAATATACATGCACATGTATGTTTATATAGATAAA TATACATGCACATGTATGTTTATATA	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
MSH3_chr5_80649652_80881815	80693313	A A	ATATGTTT others(293): Show ATATGTTTATATAAATATGCACATGTATATGTTTAAATATGCACATGTAT ATGTTTAGATAAATATACATGCACATGTATGTGTTTAGATAAATATACAT GCACATGTATGTGTTTAGATAAATATACATGCACATGTATATGTTTATAT AGATAAATATACATGCACATGTATATGTTTATATAGATAAATATACATGC ACATGTATGTTTATATAGATAAATATACATGCACATGTATGTTTATATAG ATAAATATACATGCACATGTATGTTTATATAGATAAATATACATGCACAT G	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	345	0.0029	300	c.134 others(321): Show c.1340+14232_1340+14233insAATATGCACATGTATATGTTTAAA TATGCACATGTATATGTTTAGATAAATATACATGCACATGTATGTGTTTA GATAAATATACATGCACATGTATGTGTTTAGATAAATATACATGCACATG TATATGTTTATATAGATAAATATACATGCACATGTATATGTTTATATAGA TAAATATACATGCACATGTATGTTTATATAGATAAATATACATGCACATG TATGTTTATATAGATAAATATACATGCACATGTATGTTTATATAGATAAA TATACATGCACATGTATGTTTATATA	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
MSH4_chr1_75791882_75918242	75906518	T T	TTGTATAT others(293): Show TTGTATATATTATATATAATATATATAATATTGTATATATTATATATAAT ATATACAATATTATATATATTATATATAATATATACAATATATATATTAT ATATAATATATACAATATTTTATATATTATATATATAATATATAATATAT ACATATTATATATTATATATAATATATATACATATTATATATTATATATA TAATATATATACATATTATATATAATATATATACATATTATATTATATAT AATATATATACATATTATATATAATATATAATATATTACATATTATATAT A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG06807.hp1 HG02615.hp2 HG06807.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0150 a0001c0004t0003g0154 a0001c0004t0003g0150 a0001c0004t0003g0154	2	39	0.0513	300	c.262 others(319): Show c.2620-6178_2620-6177insTGTATATATTATATATAATATATATA ATATTGTATATATTATATATAATATATACAATATTATATATATTATATAT AATATATACAATATATATATTATATATAATATATACAATATTTTATATAT TATATATATAATATATAATATATACATATTATATATTATATATAATATAT ATACATATTATATATTATATATATAATATATATACATATTATATATAATA TATATACATATTATATTATATATAATATATATACATATTATATATAATAT ATAATATATTACATATTATATATA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19			chr1	TogoVar
MSH4_chr1_75791882_75918242	75906518	T T	TTGTATAT others(293): Show TTGTATATATTATATATAATATATATAATATTGTATATATTATATATAAT ATATACAATATTGTATATATTATATATAATATATACAATATATATATTAT ATATAATATATACAATATTTTATATATTATATATATAATATATAATATAT ACATATTATATATTATATATAATATATATACATATTATATATTATATATA TAATATATATACATATTATATATAATATATATACATATTATATTATATAT AATATATATACATATTATATATAATATATAATATATTACATATTATATAT A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0153 a0001c0004t0003g0153	1	38	0.0263	300	c.262 others(319): Show c.2620-6178_2620-6177insTGTATATATTATATATAATATATATA ATATTGTATATATTATATATAATATATACAATATTGTATATATTATATAT AATATATACAATATATATATTATATATAATATATACAATATTTTATATAT TATATATATAATATATAATATATACATATTATATATTATATATAATATAT ATACATATTATATATTATATATATAATATATATACATATTATATATAATA TATATACATATTATATTATATATAATATATATACATATTATATATAATAT ATAATATATTACATATTATATATA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19			chr1	TogoVar
MSI2_chr17_57251523_57689689	57539630	G G	GCAGTGAG others(293): Show GCAGTGAGCTGAGGTCGTGCCACTGCACTCTAGCCTGGGTGACAGAGTAA GACTCTCAAAAAAAAAAAAAAAATTACTCCATCCTAGCACCCTACCACAA TAACTATTGTTTGCCTTCTTCCTGACATGCACATAAAATGTTTTTAAAGT TGGTTGTAACTGTGGGGTTAATATTTGTTGAGTGAGGTGTGGGCTCTGCC TCATCTGAGTTTTCTGTCCTGCCAGGGACACCTAGGAGTTCCAAACCAGC AAGATGTGATTCAATGCAGCTGAGCATCCTTCACCTCTGAGTCTCCTCTG T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01256.hp1 HG01258.hp1 others(5): Show HG01243.hp2 HG01256.hp1 HG01258.hp1 HG01258.hp2 HG02559.hp1 HG02615.hp1 HG02622.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 a0001c0001t0017 a0001c0001t0064 a0001c0001t0094 a0001c0002t0020	a0001c0001t0001g0025 a0001c0001t0005g0064 a0001c0001t0013g0131 others(5): Show a0001c0001t0001g0025 a0001c0001t0005g0064 a0001c0001t0013g0131 a0001c0001t0017g0166 a0001c0001t0017g0167 a0001c0001t0064g0062 a0001c0001t0094g0056 a0001c0002t0020g0126	8	40	0.2000	300	c.454 others(317): Show c.454+9907_454+9908insAGTGAGCTGAGGTCGTGCCACTGCACTC TAGCCTGGGTGACAGAGTAAGACTCTCAAAAAAAAAAAAAAAATTACTCC ATCCTAGCACCCTACCACAATAACTATTGTTTGCCTTCTTCCTGACATGC ACATAAAATGTTTTTAAAGTTGGTTGTAACTGTGGGGTTAATATTTGTTG AGTGAGGTGTGGGCTCTGCCTCATCTGAGTTTTCTGTCCTGCCAGGGACA CCTAGGAGTTCCAAACCAGCAAGATGTGATTCAATGCAGCTGAGCATCCT TCACCTCTGAGTCTCCTCTGTC	MSI2	ENSG00000153944.12	transcript	ENST00000284073.7	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
MUC4_chr3_195741771_195816929	195776385	C C	CCATACCT others(293): Show CCATACCTTCCACACCCATACCTTCCACGGCCATACCTTCCACACCCATA CCTTCCACACCCATACCTTCCACACCCTTACCTTCCACACCCTTACCTTC CACACCCATACCTTCCACGGCCATACCTTCCACGGTCATACCTTCCGCAC CCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCCGCACCCATA CCTTCCGCACCCATACCTTCCGCACCCATACCTTCCACACCCTTACCTTC CACACCCTTACCTTCCACACCCATACCTTCCACGGCCATACCTTCCACAG T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0203 a0003c0004t0003g0203	1	205	0.0049	300	c.129 others(321): Show c.12943+1917_12943+1918insACTGTGGAAGGTATGGCCGTGGAA GGTATGGGTGTGGAAGGTAAGGGTGTGGAAGGTAAGGGTGTGGAAGGTAT GGGTGCGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTATGGGTG CGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTATGACCGTGGAA GGTATGGCCGTGGAAGGTATGGGTGTGGAAGGTAAGGGTGTGGAAGGTAA GGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGCCG TGGAAGGTATGGGTGTGGAAGGTATG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195777689	T T	TCCATACC others(293): Show TCCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACATCCAT ACCTTCCACGGCCATACCTTCCACACCCATACCTTCCACACCCTTACCTT CCACACCCATACCTTCCACACCCATACCTTCCACACCCTTACCTTCCACA CCCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACAGTCAT ACCTTCCACACCCATACCTTCCACACCCATACCTTCCACATCCATACCTT CCACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACA C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG03041.hp2 NA18955.hp1 others(2): Show HG00621.hp2 HG03041.hp2 NA18955.hp1 NA19043.hp1 NA19074.hp1	a0003 a0021 a0105 others(1): Show a0003 a0021 a0105 a0117	a0003c0006 a0021c0024 a0105c0157 others(1): Show a0003c0006 a0021c0024 a0105c0157 a0117c0150	a0003c0006t0003 a0021c0024t0004 a0105c0157t0003 others(1): Show a0003c0006t0003 a0021c0024t0004 a0105c0157t0003 a0117c0150t0003	a0003c0006t0003g0104 a0021c0024t0004g0232 a0021c0024t0004g0233 others(2): Show a0003c0006t0003g0104 a0021c0024t0004g0232 a0021c0024t0004g0233 a0105c0157t0003g0212 a0117c0150t0003g0215	5	64	0.0781	300	c.129 others(319): Show c.12943+613_12943+614insGTGTGGAAGGTATGGGTGTGGAAGGT ATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGATGTGGAAGGTATGGG TGTGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGG AAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTAAGGGTGTGGAAGGT ATGGGTGTGGAAGGTATGGGTGTGGAAGGTAAGGGTGTGGAAGGTATGGG TGTGGAAGGTATGGCCGTGGAAGGTATGGATGTGGAAGGTATGGGTGTGG AAGGTATGACTGTGGAAGGTATGG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195777735	C C	CCATACCT others(293): Show CCATACCTTCCACGGCCATACCTTCCACACCCATACCTTCCACACCCTTA CCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCTTACCTTC CACACCCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACAG TCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACATCCATA CCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTC CACACCCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACAG T	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0213 a0003c0006t0003g0213	1	235	0.0043	300	c.129 others(319): Show c.12943+567_12943+568insACTGTGGAAGGTATGGGTGTGGAAGG TATGACTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGG GTGTGGAAGGTATGGGTGTGGAAGGTATGGATGTGGAAGGTATGGGTGTG GAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGG TATGACTGTGGAAGGTATGGGTGTGGAAGGTAAGGGTGTGGAAGGTATGG GTGTGGAAGGTATGGGTGTGGAAGGTAAGGGTGTGGAAGGTATGGGTGTG GAAGGTATGGCCGTGGAAGGTATG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC5AC_chr11_1152953_1206138	1154549	C C	CACCCACT others(293): Show CACCCACTCACTCACTCACCCACTCACTTATTCACTCACTCACCCACTCA CTTATTCACCCATTCACCCATTCACTCACCCATTCACTCACTCACTTATT CACTCACTCTCTCACTCATTCATTAATTCGCCCATTCACTCACACTTTCA CTCACTCACTTATTCACTCATACACTCATTCACTTATTTACTCACTCATT CACTCACTCATTAATTCACCCATTCACTCACTCACTTATTCACTCATAGA CTCATACACTCACTCATTCACTCACGCATCCACTCATTCACTCACTCATT T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG01256.hp1 HG01257.hp1 others(22): Show HG00558.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01975.hp1 HG01978.hp1 HG01993.hp2 HG02015.hp1 HG02040.hp1 HG02165.hp2 HG02293.hp1 HG02698.hp1 HG03688.hp1 HG03710.hp1 HG03927.hp2 NA18947.hp1 NA18960.hp1 NA18979.hp1 NA18983.hp2 NA19012.hp1 NA19066.hp2 NA19084.hp1 NA19089.hp2 NA20905.hp2	a0002 a0038 a0045 others(1): Show a0002 a0038 a0045 a0063	a0002c0002 a0002c0005 a0002c0090 others(5): Show a0002c0002 a0002c0005 a0002c0090 a0002c0094 a0002c0096 a0038c0086 a0045c0097 a0063c0107	a0002c0002t0001 a0002c0002t0004 a0002c0005t0001 others(6): Show a0002c0002t0001 a0002c0002t0004 a0002c0005t0001 a0002c0090t0001 a0002c0094t0001 a0002c0096t0001 a0038c0086t0001 a0045c0097t0001 a0063c0107t0001	a0002c0002t0001g0001 a0002c0002t0001g0010 a0002c0002t0001g0094 others(12): Show a0002c0002t0001g0001 a0002c0002t0001g0010 a0002c0002t0001g0094 a0002c0002t0001g0096 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0106 a0002c0002t0004g0023 a0002c0005t0001g0001 a0002c0090t0001g0097 a0002c0094t0001g0001 a0002c0096t0001g0001 a0038c0086t0001g0001 a0045c0097t0001g0088 a0063c0107t0001g0093	25	246	0.1016	300	c.-34 others(311): Show c.-3451_-3450insACCCACTCACTCACTCACCCACTCACTTATTCAC TCACTCACCCACTCACTTATTCACCCATTCACCCATTCACTCACCCATTC ACTCACTCACTTATTCACTCACTCTCTCACTCATTCATTAATTCGCCCAT TCACTCACACTTTCACTCACTCACTTATTCACTCATACACTCATTCACTT ATTTACTCACTCATTCACTCACTCATTAATTCACCCATTCACTCACTCAC TTATTCACTCATAGACTCATACACTCACTCATTCACTCACGCATCCACTC ATTCACTCACTCATTT	MUC5AC	ENSG00000215182.8	transcript	ENST00000621226.2	protein_coding		3403		chr11	TogoVar
MUC5AC_chr11_1152953_1206138	1154549	C C	CACCCACT others(293): Show CACCCACTCACTCACTCACCCACTCACTTATTCACTCACTCACCCACTCA CTTATTCACCCATTCACTCATTCATTCACCCATTCACTCACTCACTTATT CACTCACTCTCTCACTCATTCATTAATTCGCCCATTCACTCACACTTTCA CTCACTCACTTATTCACTCATACACTCATTCACTTATTTACTCACTCATT CACTCACTCATTAATTCACCCATTCACTCACTCACTTATTCACTCATAGA CTCATACACTCACTCATTCACTCACGCATCCACTCATTCACTCACTCATT T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG02886.hp2 HG03471.hp1 others(3): Show HG01346.hp1 HG02886.hp2 HG03471.hp1 HG03516.hp2 NA18952.hp1 NA18970.hp1	a0001 a0003 a0009 others(1): Show a0001 a0003 a0009 a0034	a0001c0023 a0003c0014 a0009c0012 others(1): Show a0001c0023 a0003c0014 a0009c0012 a0034c0120	a0001c0023t0001 a0003c0014t0001 a0009c0012t0001 others(1): Show a0001c0023t0001 a0003c0014t0001 a0009c0012t0001 a0034c0120t0001	a0001c0023t0001g0058 a0001c0023t0001g0060 a0001c0023t0001g0062 others(3): Show a0001c0023t0001g0058 a0001c0023t0001g0060 a0001c0023t0001g0062 a0003c0014t0001g0073 a0009c0012t0001g0018 a0034c0120t0001g0070	6	227	0.0264	300	c.-34 others(311): Show c.-3451_-3450insACCCACTCACTCACTCACCCACTCACTTATTCAC TCACTCACCCACTCACTTATTCACCCATTCACTCATTCATTCACCCATTC ACTCACTCACTTATTCACTCACTCTCTCACTCATTCATTAATTCGCCCAT TCACTCACACTTTCACTCACTCACTTATTCACTCATACACTCATTCACTT ATTTACTCACTCATTCACTCACTCATTAATTCACCCATTCACTCACTCAC TTATTCACTCATAGACTCATACACTCACTCATTCACTCACGCATCCACTC ATTCACTCACTCATTT	MUC5AC	ENSG00000215182.8	transcript	ENST00000621226.2	protein_coding		3403		chr11	TogoVar
MYL2_chr12_110905845_110925579	110905933	A A	ATATATAA others(293): Show ATATATAATATATATTTTATAAAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATATAATATATATTATATAAAATATATATTATATTATATAAT ATATATTATATAAAATATATATTATATTATATATAATATATATTATATAA AATATATATTATATTATATATAATATATATTATATAAAATATATATTATA TATAATATATATTATATAAAATATATATTATATTATATATAATATATATT A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	322	0.0031	300	c.51 others(311): Show c.5143_*5144insTAATATATATTATATATAATATAATATATATTTT ATATAATATATATTATATATAATATATATTTTATATAATATATATTATAT ATAATATAATATATATTTTATATAATATATATTATATATAATATAATATA TATTTTATATAATATATATTATATAATATAATATATATTTTATATAATAT ATATTATATATAATATATATTTTATATAATATATATTATATATAATATAA TATATATTTTATATAATATATATTATATATAATATAATATATATTTTATA AAATATATATTATATA	MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding		4911		chr12	TogoVar
MYO1B_chr2_191240404_191430386	191398197	T T	TGATCCCC others(293): Show TGATCCCCCCACCTCCCTTCTGGACAGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGC C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03225.hp1 HG02258.hp1 HG03225.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0075 a0001c0011t0002g0076 a0001c0011t0002g0075 a0001c0011t0002g0076	2	82	0.0244	300	c.229 others(319): Show c.2295+1712_2295+1713insTCCCTTCTGGACAGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCC AGGCGGGGGGCCGATCCCCCCACC	MYO1B	ENSG00000128641.19	transcript	ENST00000392318.8	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYO1B_chr2_191240404_191430386	191398197	T T	TGATCCCC others(293): Show TGATCCCCCCACCTCCCTTCTGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGC C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00558.hp1 others(75): Show HG00099.hp1 HG00099.hp2 HG00558.hp1 HG00558.hp2 HG00642.hp1 HG00735.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01261.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01975.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02273.hp2 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02895.hp2 HG03098.hp2 HG03453.hp2 HG03486.hp2 HG03540.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18941.hp2 NA18942.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18982.hp1 NA18983.hp2 NA18986.hp2 NA18994.hp2 NA19003.hp2 NA19005.hp1 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0013 a0001c0001 a0001c0002 a0001c0013	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0013t0003	a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0021 others(75): Show a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0021 a0001c0001t0002g0034 a0001c0001t0002g0047 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0158 a0001c0001t0002g0168 a0001c0001t0003g0096 a0001c0001t0003g0098 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0110 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0139 a0001c0001t0007g0143 a0001c0001t0007g0145 a0001c0001t0009g0082 a0001c0002t0002g0033 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0043 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0068 a0001c0002t0002g0071 a0001c0002t0002g0073 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0093 a0001c0002t0002g0142 a0001c0002t0002g0148 a0001c0002t0003g0130 a0001c0002t0003g0138 a0001c0002t0007g0154 a0001c0002t0007g0159 a0001c0013t0003g0112	78	158	0.4937	300	c.229 others(319): Show c.2295+1712_2295+1713insTCCCTTCTGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCC AGGCGGGGGGCCGATCCCCCCACC	MYO1B	ENSG00000128641.19	transcript	ENST00000392318.8	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr2	TogoVar
NAALADL2_chr3_174854334_175815548	175670512	A A	AATTTATA others(293): Show AATTTATATTAAATGTAAATTTAATATATTTATATTAAATTTATATTAAA TGTAAATTTAATATATTTATATTAAATTTATATTAAATGTAAATTTAATA TATTTATATTAAATTTATATTAAATGTAAATTTAATATATTTATATTAAA TGTAAATTTAATATATTTATATTAAATTTATATTAAATGTAAATTTAATA TATTTATATTAAATTTATATTAAATGTAAATTTAATATATTTATATTAAA TTTATATTAAATGTAAAATTAATATATTTATATTAAATGTAAAATTAATA T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0013 a0005c0006t0013	a0005c0006t0013g0008 a0005c0006t0013g0008	1	4	0.2500	300	c.189 others(321): Show c.1896+43150_1896+43151insATATTTATATTAAATTTATATTAA ATGTAAATTTAATATATTTATATTAAATTTATATTAAATGTAAATTTAAT ATATTTATATTAAATTTATATTAAATGTAAATTTAATATATTTATATTAA ATGTAAATTTAATATATTTATATTAAATTTATATTAAATGTAAATTTAAT ATATTTATATTAAATTTATATTAAATGTAAATTTAATATATTTATATTAA ATTTATATTAAATGTAAAATTAATATATTTATATTAAATGTAAAATTAAT ATATTTATATTAAATGTAAATTTAAT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NACC2_chr9_136001537_136100289	136023108	G G	GGAGGGAG others(293): Show GGAGGGAGGGAAGAGGGAGGGAGGAAGGAGGGAAGAGGGAGGGAGGGAAG GAGGGAAGAGGAAGGAGGGAGGGAGGAGGGAGGGAGGAGGGACGGAGGAG GGAGGAGGGAGGGAGGAGGGAGGCAGGAGGGCGGGAGGAGGGAGGGAGGA GGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAG GGAGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGGAGGAGGAAGG AGGAGAGAGGAGGGAGGGAGGAGGGGGGAGGGAGGAGGGAGGGGGAGGGA C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03209.hp1 HG03209.hp2 HG03098.hp2 HG03209.hp1 HG03209.hp2	a0001 a0001	a0001c0003 a0001c0016 a0001c0003 a0001c0016	a0001c0003t0086 a0001c0016t0043 a0001c0016t0095 a0001c0003t0086 a0001c0016t0043 a0001c0016t0095	a0001c0003t0086g0043 a0001c0016t0043g0017 a0001c0016t0095g0254 a0001c0003t0086g0043 a0001c0016t0043g0017 a0001c0016t0095g0254	3	9	0.3333	300	c.887 others(317): Show c.887-6680_887-6679insGTCCCTCCCCCTCCCTCCTCCCTCCCCC CTCCTCCCTCCCTCCTCTCTCCTCCTTCCTCCTCCCTCCCTCCTCTCTCC TCCCTCCTCCTCCCTCCTCCTCCCTCCCTCCTCTCTCCTCCCTCCTCCTC CCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCCTCCTCCCGCCCTCCTG CCTCCCTCCTCCCTCCCTCCTCCCTCCTCCGTCCCTCCTCCCTCCCTCCT CCCTCCCTCCTTCCTCTTCCCTCCTTCCCTCCCTCCCTCTTCCCTCCTTC CTCCCTCCCTCTTCCCTCCCTC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5			chr9	TogoVar
NBL1_chr1_19639311_19663452	19652713	T T	TGCAGTGG others(293): Show TGCAGTGGCTCACACCTGTAATCCCAGCACCTTGGGAGGCCGAGGTGGGC AGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACCTGGTGAAA CCCCATCTCTACTAAAAATACAAAAATCAGCCAGGTGTGGTGGCGAATGC CTGTAATTCCAGCTATTCTGGAGGCTGAGGCAGGAGAATCACTTGAACCC GGGAGGCGGAGGTTGCAGTGAGCCAAGATCATGCCATGACACTCCAGCCT GGGCGACAGAGTGAGACTCTGTCTCAAAAAAATAGATAAGTAAGGCCGGG C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0220 a0001c0001t0004g0220	1	410	0.0024	300	c.-19 others(317): Show c.-19-2269_-19-1970dupCTTGGGAGGCCGAGGTGGGCAGATCACT TGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACCTGGTGAAACCCCATCT CTACTAAAAATACAAAAATCAGCCAGGTGTGGTGGCGAATGCCTGTAATT CCAGCTATTCTGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCG GAGGTTGCAGTGAGCCAAGATCATGCCATGACACTCCAGCCTGGGCGACA GAGTGAGACTCTGTCTCAAAAAAATAGATAAGTAAGGCCGGGCGCAGTGG CTCACACCTGTAATCCCAGCAC	NBL1	ENSG00000158747.15	transcript	ENST00000375136.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
NDUFC1_chr4_139284931_139307477	139289132	C C	CAAAAAAA others(293): Show CAAAAAAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGA GATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAA A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG03486.hp1 HG01496.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0071 a0001c0001t0001g0074	2	194	0.0103	300	c.98 others(309): Show c.980_*981insTTTTGAGACGGAGTCTCGCTGTCGCCCAGGCTGGAG TGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCCCCCTGGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGC CACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC GTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTC GGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTT TTTTTTTTTTTTTT	NDUFC1	ENSG00000109390.13	transcript	ENST00000394223.2	protein_coding		798		chr4	TogoVar
NEDD4L_chr18_58039226_58406539	58282123	T T	TAAAAGTC others(293): Show TAAAAGTCAGGTTGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG AGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCT AAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCG TAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCAC TGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0099 a0001c0001t0034g0099	1	80	0.0125	300	c.297 others(319): Show c.297+30082_297+30083insCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAGTCAGGTTG	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	5/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
NEK7_chr1_198151998_198327420	198274158	T T	TTCTAGTT others(293): Show TTCTAGTTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGA TGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGT G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0202 a0001c0001t0021g0202	1	253	0.0040	300	c.373 others(317): Show c.373-3791_373-3790insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC AGTGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACC ACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCC TCCCAAAGTGTCTAGTTCTCTT	NEK7	ENSG00000151414.15	transcript	ENST00000367385.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NHERF2_chr16_2021902_2044026	2032020	T T	TTCTTTTT others(293): Show TTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCT GGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCC CGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC C	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	420	0.0024	300	c.414 others(317): Show c.414+2255_414+2256insTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGG CGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCCTCTTTTTTTTTTTTTTT	NHERF2	ENSG00000065054.14	transcript	ENST00000424542.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
NLGN1_chr3_173392744_174299372	174086282	T T	TACATATA others(293): Show TACATATATATATTTATGTATGTGCATACATATATATATTTATGTATGTG CATACATATATATATTTATGTATGTGCATACATATATATATTTATGTATG TGCATACATAAATATATTTATGTATGTGCATACATATATATTTATGTATG TGCATACATATATATATATTTATGTATGTGCATAAATATATATATATATT TATGTATGTGCATAAATATATATATATTTATGTATGTGCATAAATATATA TATATTTATGTATGTGCATAAATATATATATATATTTATGTATGTGCATA A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0008 a0001c0001t0006g0008	1	30	0.0333	300	c.707 others(321): Show c.707-189032_707-189031insCATATATATATTTATGTATGTGCA TACATATATATATTTATGTATGTGCATACATATATATATTTATGTATGTG CATACATATATATATTTATGTATGTGCATACATAAATATATTTATGTATG TGCATACATATATATTTATGTATGTGCATACATATATATATATTTATGTA TGTGCATAAATATATATATATATTTATGTATGTGCATAAATATATATATA TTTATGTATGTGCATAAATATATATATATTTATGTATGTGCATAAATATA TATATATATTTATGTATGTGCATAAA	NLGN1	ENSG00000169760.18	transcript	ENST00000695368.1	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
NLRP4_chr19_55831540_55886855	55850054	G G	GCTGTGGT others(293): Show GCTGTGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGTAGCTGTGGTGT GATTTCCGAGACTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCGTA GCTGCGGTGTGATTTCCGTAGCTGCGGTGTAATTTCCGAGACTGCGGTGT AATTTCCGAGACTGTGGTGTAATTTCCGTAGCTGTGGTGTGATTTCCGAG ACTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCGTAGCTGCGGTGT GATTTCCGAGACTGCGGTGGAATTTCCGAGACTGCGGTGGAATTTCCGAG A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0344 a0001c0001t0010g0344	1	380	0.0026	300	c.-65 others(317): Show c.-65-1959_-65-1958insTGGTGTGATTTCCGAGACTGCGGTGTGA TTTCCGTAGCTGTGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGTAGC TGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCGTAGCTGCGGTGTAA TTTCCGAGACTGCGGTGTAATTTCCGAGACTGTGGTGTAATTTCCGTAGC TGTGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGTAGCTGCGGTGTGA TTTCCGTAGCTGCGGTGTGATTTCCGAGACTGCGGTGGAATTTCCGAGAC TGCGGTGGAATTTCCGAGACTG	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55850503	T T	TGATTTCC others(293): Show TGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGA GACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTG TGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGT AGCTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCGTAGCTGCGGTG TGATTTCCGTAGCTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGA GACTGCGGTGTGATTTCCGAGACTGCGGTGGGATTTCCGTGACTGCGGTG G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03209.hp2 HG06807.hp2 HG02717.hp1 HG03209.hp2 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0001c0023 a0002c0002 a0001c0005 a0001c0023 a0002c0002	a0001c0005t0005 a0001c0023t0008 a0002c0002t0008 a0001c0005t0005 a0001c0023t0008 a0002c0002t0008	a0001c0005t0005g0356 a0001c0023t0008g0357 a0002c0002t0008g0358 a0001c0005t0005g0356 a0001c0023t0008g0357 a0002c0002t0008g0358	3	407	0.0074	300	c.-65 others(317): Show c.-65-1513_-65-1512insGATTTCCGAGACTGCGGTGTGATTTCCG AGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGT GTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCG AGACTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCGTAGCTGCGGT GTGATTTCCGTAGCTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCG AGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGT GGGATTTCCGTGACTGCGGTGG	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9			chr19	TogoVar
NLRP8_chr19_55942832_55993629	55993488	T T	TCTCCCCC others(293): Show TCTCCCCCCCCCCTCTCCCCCCCCTCTCCCCCCCCCCCACCTCTCCCCCC CTCCTCCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCCTCC CCCCTCCCCCCCTCTCCCCCTCCCTCCCCCTCCCCCCTCTCCCCTCCCCC TCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCC CTCCCCTCCCCTCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCTC C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0010 a0002c0003t0010	a0002c0003t0010g0053 a0002c0003t0010g0053	1	319	0.0031	300	c.55 others(311): Show c.5575_*5576insCTCCCCCCCCCCTCTCCCCCCCCTCTCCCCCCCC CCCACCTCTCCCCCCCTCCTCCCCCCTCTCCCCCCTCTCCCCCCTCTCCC CCCTCTCCCCCCTCCCCCCTCCCCCCCTCTCCCCCTCCCTCCCCCTCCCC CCTCTCCCCTCCCCCTCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCT CCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCCCTCCCCCCTCCCCCTC CCCTCCCCTCCCCTCC	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4860		chr19	TogoVar
NLRP8_chr19_55942832_55993629	55993508	C C	CCCCCCCC others(293): Show CCCCCCCCTCCCCCCCCCTCCCCCCCCTCCCCCACCTCTCCCCCCTCTCC CCCCTCCCCCCCTCCCCCCCTCCCCCCTCTCCCCCTCCCTCCCCCTCCCC CCTCTCCCCCTCCCCCCTCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCC TCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCC T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0069 a0001c0002t0008g0069	1	299	0.0033	300	c.55 others(311): Show c.5595_*5596insCCCCCCCTCCCCCCCCCTCCCCCCCCTCCCCCAC CTCTCCCCCCTCTCCCCCCTCCCCCCCTCCCCCCCTCCCCCCTCTCCCCC TCCCTCCCCCTCCCCCCTCTCCCCCTCCCCCCTCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTC CCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCCCCTCCCCCTCCCCTC CCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCT CCCCTCCCCCTCCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4880		chr19	TogoVar
NR3C2_chr4_148073764_148447414	148366441	T T	TAAAAGTA others(293): Show TAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAG AATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACT TTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTT AAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAG AATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACT TTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTT A	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01993.hp1 HG03139.hp2 others(1): Show HG01361.hp1 HG01993.hp1 HG03139.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 a0001c0001t0001 a0001c0001t0008 a0001c0001t0011	a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0008g0088 others(1): Show a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0008g0088 a0001c0001t0011g0124	4	11	0.3636	300	c.175 others(321): Show c.1757+68662_1757+68663insTAAAAAGTATTCTTTTTTAAAAGT ACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTT TTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAA AAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGT ACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTT TTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAA AAGTATTCTTTTTTAAAAGTACTTTT	NR3C2	ENSG00000151623.15	transcript	ENST00000358102.8	protein_coding	2/8			chr4	TogoVar
NR3C2_chr4_148073764_148447414	148366441	T T	TAAAAGTA others(293): Show TAAAAGTACTTTTAAAAAAGAATACTTTTTTAAAAGTACTTTTAAAAAAG AATACTTTTTTAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACT TTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTT AAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAG AATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACT TTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTT A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0019 a0001c0001t0009g0019	1	8	0.1250	300	c.175 others(321): Show c.1757+68662_1757+68663insTAAAAAGTATTCTTTTTTAAAAGT ACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTT TTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAA AAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGT ACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTT TTTTAAAAGTACTTTTAAAAAAGTATTCTTTTTTAAAAGTACTTTTAAAA AAGTATTCTTTTTTAAAAGTACTTTT	NR3C2	ENSG00000151623.15	transcript	ENST00000358102.8	protein_coding	2/8			chr4	TogoVar
NRIP1_chr21_14956235_15070000	15030895	G G	GGAGGGTC others(293): Show GGAGGGTCACTACATCCCCTTTCTATGTGTGTACACTCTGGAAGGCACTC AGAGGATCACCACATTCCCTTTCTATGTGTATACACTCTGGAAGGTGTTC AGAGGTTCACCACATTCCCTTTCTATGTGTATACACTCTGGAAGGCGGTT GGAGGATCACTACCTTCCCCTTCTATGTGTGTACACTCTGGAAGGCGCTC GGAGGGTCACTACATCCCCTTTCTATGTGTGTACACTCTGGAAGGCACTC AGAGGATCACCACATTCCCTTTCTATGTGTATACACTCTGGAAGGTGTTC A	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0170 a0001c0001t0012g0170	1	391	0.0026	300	c.-45 others(321): Show c.-458+12599_-458+12600insTGAACACCTTCCAGAGTGTATACA CATAGAAAGGGAATGTGGTGATCCTCTGAGTGCCTTCCAGAGTGTACACA CATAGAAAGGGGATGTAGTGACCCTCCGAGCGCCTTCCAGAGTGTACACA CATAGAAGGGGAAGGTAGTGATCCTCCAACCGCCTTCCAGAGTGTATACA CATAGAAAGGGAATGTGGTGAACCTCTGAACACCTTCCAGAGTGTATACA CATAGAAAGGGAATGTGGTGATCCTCTGAGTGCCTTCCAGAGTGTACACA CATAGAAAGGGGATGTAGTGACCCTC	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NTM_chr11_131365615_132341822	131680872	T T	TGTGTGCG others(293): Show TGTGTGCGTCTGTGTAGGCATGTGTGCCTCTGTGTCTGTGTGTGAGATCA TGCCTGTGTCTGTGTCTGTGAGTGCCTGTGTGTGTGTGCGTCTGTGTAGG CATGTGTGCCTCTGTGTCTGTGTGTGAGATCATGCCTGTGTCTGTGTCTG TGAGTGCCTGTGTGTGTGTGTGTCTGTGTAGGCATGTGTGCCTCTGTGTC TGTGTGTGTGAGATCATGCCTATGTCTATGTGAGTGCCTGTGTGTGTGTG TGTGTGTCTGTGTAGGCATGTGTGCCTCTGTGTCTGTGTGTGAGATCATG C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02280.hp1 HG01074.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0064 a0001c0001t0003g0030 a0001c0001t0002g0064 a0001c0001t0003g0030	2	68	0.0294	300	c.83- others(319): Show c.83-230692_83-230691insGTGTGCGTCTGTGTAGGCATGTGTGC CTCTGTGTCTGTGTGTGAGATCATGCCTGTGTCTGTGTCTGTGAGTGCCT GTGTGTGTGTGCGTCTGTGTAGGCATGTGTGCCTCTGTGTCTGTGTGTGA GATCATGCCTGTGTCTGTGTCTGTGAGTGCCTGTGTGTGTGTGTGTCTGT GTAGGCATGTGTGCCTCTGTGTCTGTGTGTGTGAGATCATGCCTATGTCT ATGTGAGTGCCTGTGTGTGTGTGTGTGTGTCTGTGTAGGCATGTGTGCCT CTGTGTCTGTGTGTGAGATCATGC	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8			chr11	TogoVar
NTM_chr11_131365615_132341822	131865893	T T	TTCACACA others(293): Show TTCACACATGCTACATACACACCTCCCACACTCACACATGCTACATACAC ACATGCTACACACACACCTCCCACACTCACACATGCTACATACACACATG CTACACACACACCTCCCACACTCACACATGCTACATACACACATGCTACA CACACACCTCCCACACTCACACATGCTACATACACACATGCTACACACAC ACCTCCCACATTCACACATGCTACATACACACATGCTACACACACACCTC CCACACTCACACATGCTACATACACACATGCTACACACACACCTCCCACA C	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01081.hp2 HG01243.hp2 others(6): Show HG01071.hp2 HG01081.hp2 HG01243.hp2 HG01496.hp1 HG01993.hp1 HG02602.hp1 HG03540.hp2 HG04184.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 a0001c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0038 others(6): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0038 a0001c0001t0001g0063 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0006g0034 a0001c0001t0014g0080 a0001c0002t0001g0027	9	50	0.1800	300	c.83- others(317): Show c.83-45650_83-45649insCTCCCACACTCACACATGCTACATACAC ACATGCTACACACACACCTCCCACACTCACACATGCTACATACACACATG CTACACACACACCTCCCACACTCACACATGCTACATACACACATGCTACA CACACACCTCCCACACTCACACATGCTACATACACACATGCTACACACAC ACCTCCCACATTCACACATGCTACATACACACATGCTACACACACACCTC CCACACTCACACATGCTACATACACACATGCTACACACACACCTCCCACA CTCACACATGCTACATACACAC	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTSR1_chr20_62703836_62767771	62755580	T T	TCCATCCT others(293): Show TCCATCCTCCCTCCCTCCATCATCCCTCCCTCCCTCCATCCCTCATTCCA TCCCTCCCTCCCTCCCTCCATCCCTCCCTTCATCTATCCTCCCTCCCTCC CTCCCTCCATCCCTCATTCCATCCCTCCCTCTCTCCCTCCCTCCATCCAT CCTCCCTCCCTCCATCACTCCCTCCCTCCATCCATCCTCCCTCCCTCATC CATCATCCCTCCCTCCCTCCATCCCTCATTCCATCCCTCCCTCCCTCCCT CCATCCATCATCCCTCCTCCCTCCATCCCTCATTCCATCCCTCCCTCCCT C	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0246 a0001c0007t0003g0246	1	84	0.0119	300	c.916 others(315): Show c.916+696_916+697insATCCTCCCTCCCTCCATCATCCCTCCCTCC CTCCATCCCTCATTCCATCCCTCCCTCCCTCCCTCCATCCCTCCCTTCAT CTATCCTCCCTCCCTCCCTCCCTCCATCCCTCATTCCATCCCTCCCTCTC TCCCTCCCTCCATCCATCCTCCCTCCCTCCATCACTCCCTCCCTCCATCC ATCCTCCCTCCCTCATCCATCATCCCTCCCTCCCTCCATCCCTCATTCCA TCCCTCCCTCCCTCCCTCCATCCATCATCCCTCCTCCCTCCATCCCTCAT TCCATCCCTCCCTCCCTCCC	NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
NTSR1_chr20_62703836_62767771	62755590	C C	CTCCATCA others(293): Show CTCCATCATCCCCTCCCTCCCTCCATCCCTCATTCCATCCCTCCCTCCCT CCCTCCATCCCTCCCTTCATCTATCCTCCCTCCCTCCCTCCCTCCATCCC TCATTCCATCCCTCCCTCTCTCCCTCCCTCCATCCATCCTCCCTCCCTCC ATCACTCCCTCCCTCCATCCATCCTCCCTCCCTCCATCCATCATCCCCTC CCTCCCTCCATCCCTCATTCCATCCCTCCCTCCCTCCCTCCATCCATCAT CCCTCCCTCCCTCCATCCCTCATTCCATCCCTCCCTCCCTCCCTCCCTCC A	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	4	0.2500	300	c.916 others(315): Show c.916+715_916+716insCTCCCTCCCTCCATCCCTCATTCCATCCCT CCCTCCCTCCCTCCATCCCTCCCTTCATCTATCCTCCCTCCCTCCCTCCC TCCATCCCTCATTCCATCCCTCCCTCTCTCCCTCCCTCCATCCATCCTCC CTCCCTCCATCACTCCCTCCCTCCATCCATCCTCCCTCCCTCCATCCATC ATCCCCTCCCTCCCTCCATCCCTCATTCCATCCCTCCCTCCCTCCCTCCA TCCATCATCCCTCCCTCCCTCCATCCCTCATTCCATCCCTCCCTCCCTCC CTCCCTCCATCCATCATCCC	NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
NUDCD1_chr8_109235919_109339087	109337068	T T	TCATTTAA others(293): Show TCATTTAAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATC TCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0190 a0003c0003t0003g0190	1	313	0.0032	300	c.-30 others(311): Show c.-3059_-3058insCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACG AGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGG AGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAACTTTAAATG	NUDCD1	ENSG00000120526.12	transcript	ENST00000239690.9	protein_coding		2982		chr8	TogoVar
NUP93_chr16_56725129_56855286	56808501	A A	AAATATAT others(293): Show AAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATA AAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATA AAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATA AAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATA AAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATA AAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATA T	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0042 a0001c0003t0042	a0001c0003t0042g0284 a0001c0003t0042g0284	1	328	0.0030	300	c.489 others(317): Show c.489+2870_489+2871insATATATAGTTATGTAACTATATAAAATA TATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAATA TATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAATA TATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAATA TATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAATA TATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAATA TATAGTTATGTAACTATATATA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
OPRL1_chr20_64075082_64105633	64088656	A A	AGGGCAGG others(293): Show AGGGCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGAT CTATGCAGGGAGGGCAGGGTCTGTGCAGAGTGGCCAGGGTCTTTGCAGGG TGGCCAGGATCTGTGCAGGGAGGCCAGGATCTGTGCAGAGTGGCCAGGAT CTGTGCAGGGAGGGCAGGGTCTGTGCAGAGTGGCCAGGATCTGTGCAGAG TGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGCCAGGAT CTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGGCAGGATCTGTGCAGAG T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03453.hp2 HG01884.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	2	42	0.0476	300	c.-18 others(319): Show c.-184-3308_-184-3307insGCAGGATCTGTGCAGAGTGGCCAGGA TCTGTGCAGAGTGGCCAGGATCTATGCAGGGAGGGCAGGGTCTGTGCAGA GTGGCCAGGGTCTTTGCAGGGTGGCCAGGATCTGTGCAGGGAGGCCAGGA TCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGGCAGGGTCTGTGCAGA GTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGA TCTGTGCAGGGAGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGG GAGGGCAGGATCTGTGCAGAGTGG	OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
OPTN_chr10_13095163_13143308	13115253	T T	TTATATCT others(293): Show TTATATCTATATATATATTTATAAATATAGATATATCTATATTTATATAT ATTTATAAATATAGATATATCTATATTTATATATATTTATAAATATAGAT ATATCTATATTTATATATATTTATAAATATAGATATATCTATATTTATAT ATATTTATAAATATAGATATATCTATATTTATATATATTTATAAATATAG ATATATCTATATTTATATATATTTATAAATATAGATATATCTATATTTAC ATATATATAAATATAGATATATCTATATTTATATATATTTATAAATATAG A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0328 a0001c0001t0001g0328	1	83	0.0120	300	c.553 others(317): Show c.553-1003_553-1002insATATATTTATAAATATAGATATATCTAT ATTTATATATATTTATAAATATAGATATATCTATATTTATATATATTTAT AAATATAGATATATCTATATTTATATATATTTATAAATATAGATATATCT ATATTTATATATATTTATAAATATAGATATATCTATATTTATATATATTT ATAAATATAGATATATCTATATTTATATATATTTATAAATATAGATATAT CTATATTTACATATATATAAATATAGATATATCTATATTTATATATATTT ATAAATATAGATATATCTATAT	OPTN	ENSG00000123240.17	transcript	ENST00000378747.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
OR1F1_chr16_3183204_3211556	3198019	A A	AGGAGAGG others(293): Show AGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAG GAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGA GGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGG GAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGA GAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGA G	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02132.hp1 HG02135.hp2 HG02015.hp1 HG02132.hp1 HG02135.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0134 a0002c0002t0004g0135 a0002c0002t0004g0155 a0002c0002t0004g0134 a0002c0002t0004g0135 a0002c0002t0004g0155	3	227	0.0132	300	c.-12 others(317): Show c.-12-6205_-12-6204insGGGAGAAGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGA AGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAG GAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGA GAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGA GGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGG GAGAAGGAGAGGGAGAGGGAGA	OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr16	TogoVar

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