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
MICAL3_chr22_17782649_18029561	17877202	G G	GGTTAGGG others(173): Show GGTTAGGGAAGTTATGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTA TGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTGAGGGAGGTTATGGAG GTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAG GGAGGTTATGGAGGTGAGGGAGGTTAGGGAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0201 a0001c0001t0002g0201	1	274	0.0037	180	c.224 others(199): Show c.2242-5180_2242-5179insTTCCCTAACCTCCCTCACCTCCATAA CCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCC ATAACCTCCATAACCTCCCTCACCTCCCTAACCTCCATAACCTCCCTCAC CTCCATAACCTCCCTCACCTCCATAACCTCCCTAACCTCCATAACTTCCC TAAC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877243	G G	GGGAGGTT others(173): Show GGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAG GTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAG GGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGG TTAGGGAGGTTATGGAGGTTAGGGAGGTTAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0022 a0022	a0022c0051 a0022c0051	a0022c0051t0001 a0022c0051t0001	a0022c0051t0001g0089 a0022c0051t0001g0089	1	274	0.0037	180	c.224 others(199): Show c.2242-5221_2242-5220insATAACCTCCCTAACCTCCATAACCTC CCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAA CCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCCTAACCTCC ATAACCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCATAAC CTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877252	G G	GGGAGGTG others(173): Show GGGAGGTGAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAG GTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAT GGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTAGGGAGGTTAGGGAGG TTATGGAGGTTAGGGAGGTTAGGGAGGTTAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0020 a0020	a0020c0052 a0020c0052	a0020c0052t0001 a0020c0052t0001	a0020c0052t0001g0230 a0020c0052t0001g0230	1	274	0.0037	180	c.224 others(199): Show c.2242-5230_2242-5229insATAACCTCCCTAACCTCCCTAACCTC CATAACCTCCCTAACCTCCCTAACCTCCCTCACCTCCATAACCTCCCTAA CCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCC CTCACCTCCATAACCTCCATAACTTCCCTAACCTCCATAACCTCCCTCAC CTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877369	G G	GGGAGGTT others(173): Show GGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAG GTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAG GGAGGTTATGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGG TTAGGGAAGTTATGGAGGTTAGGGAGATTAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	274	0.0037	180	c.224 others(199): Show c.2242-5347_2242-5346insATAATCTCCCTAACCTCCATAACTTC CCTAACCTCCCTAACCTCCATAACCTCCCTCACCTCCCTAACCTCCATAA CCTCCCTAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCC CTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAAC CTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877493	T T	TAGGGAGA others(173): Show TAGGGAGATTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTATGG AGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTG AGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGA GGTTAGGGAAGTTATGGAGGTTATGGAGGTG	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0212 a0001c0001t0007g0212	1	274	0.0037	180	c.224 others(199): Show c.2242-5471_2242-5470insCACCTCCATAACCTCCATAACTTCCC TAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACC TCCCTCACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCAT AACCTCCATAACTTCCCTAACCTCCATAACCTCCCTAACCTCCATAATCT CCCT	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877513	G G	GGGAGGTT others(173): Show GGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTGAGGGAG GTTATGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAG GGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGG TTAGGGAGGTTATGGAGGTTAGGGAAGTTAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 NA18747.hp2 others(1): Show HG01070.hp1 HG01071.hp2 NA18747.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0158 a0001c0001t0002g0114 a0001c0001t0002g0115 others(1): Show a0001c0001t0001g0158 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0193	4	274	0.0146	180	c.224 others(199): Show c.2242-5491_2242-5490insATAACTTCCCTAACCTCCATAACCTC CCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAA CCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCCTAACCTCC ATAACCTCCCTCACCTCCATAACCTCCATAACTTCCCTAACCTCCATAAC CTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877529	G G	GAGGGAGG others(173): Show GAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGG AGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTT ATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGA GGTTATGGAGGTTAGGGAGGTTATGGAGGTT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0006 a0006	a0006c0027 a0006c0027	a0006c0027t0002 a0006c0027t0002	a0006c0027t0002g0223 a0006c0027t0002g0223	1	274	0.0037	180	c.224 others(199): Show c.2242-5507_2242-5506insAACCTCCATAACCTCCCTAACCTCCA TAACCTCCCTAACCTCCATAACCTCCCTCACCTCCCTAACCTCCCTAACC TCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCCT AACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCT CCCT	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877529	G G	GAGGGAGG others(173): Show GAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGG AGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTT ATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGA GGTTATGGAGGTTAGGGAGGTTATGGAGGTT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0002 a0006c0011t0002	a0006c0011t0002g0085 a0006c0011t0002g0085	1	274	0.0037	180	c.224 others(199): Show c.2242-5507_2242-5506insAACCTCCATAACCTCCCTAACCTCCA TAACCTCCCTAACCTCCATAACCTCCCTCACCTCCCTAACCTCCCTAACC TCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCCT AACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCT CCCT	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MID2_chrX_107820866_107936637	107910768	T T	TTTTCCTT others(173): Show TTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	181	0.0055	180	c.107 others(199): Show c.1074-5164_1074-5163insTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCC	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
MID2_chrX_107820866_107936637	107910838	C C	CTTTCCTT others(173): Show CTTTCCTTTCCTTTCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC CTTCCCTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0142 a0001c0002t0002g0142	1	181	0.0055	180	c.107 others(199): Show c.1074-5164_1074-5163insTTTCCTTTCCTTTCCTTCCCTTCCCT TCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCT	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9			chrX	TogoVar
MPPED1_chr22_43407014_43512848	43500202	A A	ATGGTGGT others(173): Show ATGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGCAGTGAT GATGGTGGTGATGGTGATGGAGGTGGTGGTGGTGATGGTGGTGGTGGTGA TGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGCAGTGATGATGGTGGTG ATGGTGATGGAGGTGGTGGTGGTGATGGTGG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0164 a0001c0002t0001g0164	1	250	0.0040	180	c.748 others(197): Show c.748+1855_748+1856insTGGTGATGGGGGTGGTGGTGGTGATGGT GATGGAGGTGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGTGGTGG TGATGGTGGTGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTG GCAGTGATGATGGTGGTGATGGTGATGGAGGTGGTGGTGGTGATGGTGGT GG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MRGPRG_chr11_3212944_3223813	3214914	C C	CCCACCCA others(173): Show CCCACCCACCCATCCACCCATCCACCCATCCATCCACCCACCCACCCACC CACCCACCCACCCACCCATCCATCCATCCACCCACCCACCCACCCACCCA CCCACCCATCCATCCATCCATCCATCCATCCATCCACCCATCCACCCACC CATCCATCCACCCACCCACCCACCCACCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02451.hp2 HG02257.hp2 HG02451.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0000 a0005c0006t0001g0000	2	426	0.0047	180	c.30 others(191): Show c.3029_*3030insATGGGTGGGTGGGTGGGTGGGTGGATGGATGGGT GGGTGGATGGGTGGATGGATGGATGGATGGATGGATGGATGGGTGGGTGG GTGGGTGGGTGGGTGGGTGGATGGATGGATGGGTGGGTGGGTGGGTGGGT GGGTGGGTGGGTGGATGGATGGGTGGATGGGTGGATGGGTGGGTGG	MRGPRG	ENSG00000182170.3	transcript	ENST00000332314.3	protein_coding		3029		chr11	TogoVar
MRGPRG_chr11_3212944_3223813	3214914	C C	CCCACCCA others(173): Show CCCACCCACCCATCCACCCATCCACCCATCCATCCACCCACCCACCCACC CACCCACCCACCCACCCATCCATCCATCCACCCACCCACCCACCCACCCA CCCACCCATCCATCCATCCATCCATCCATCCATCCACCCATCCACCCACC CATCCATCCACCCACCCACCCACCCATCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp1 others(41): Show HG00099.hp1 HG00280.hp1 HG00323.hp1 HG00673.hp2 HG00738.hp1 HG01074.hp1 HG01074.hp2 HG01175.hp2 HG01358.hp1 HG01358.hp2 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02040.hp2 HG02155.hp1 HG02293.hp2 HG02451.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02809.hp2 HG02895.hp2 HG02897.hp2 HG02970.hp1 HG03669.hp2 HG03834.hp2 HG04115.hp1 NA18947.hp2 NA18951.hp2 NA18952.hp2 NA18963.hp2 NA18965.hp2 NA18968.hp1 NA18970.hp1 NA18984.hp2 NA18985.hp1 NA19000.hp1 NA19003.hp2 NA19064.hp2 NA19090.hp1 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	44	426	0.1033	180	c.30 others(191): Show c.3029_*3030insATGGATGGGTGGGTGGGTGGGTGGATGGATGGGT GGGTGGATGGGTGGATGGATGGATGGATGGATGGATGGATGGGTGGGTGG GTGGGTGGGTGGGTGGGTGGATGGATGGATGGGTGGGTGGGTGGGTGGGT GGGTGGGTGGGTGGATGGATGGGTGGATGGGTGGATGGGTGGGTGG	MRGPRG	ENSG00000182170.3	transcript	ENST00000332314.3	protein_coding		3029		chr11	TogoVar
MRGPRG_chr11_3212944_3223813	3214914	C C	CCCACCCA others(173): Show CCCACCCACCCATCCACCCATCCACCCATCCATCCACCCACCCACCCACC CACCCACCCACCCACCCATCCATCCATCCACCCACCCACCCACCCACCCA CCCATCCATCCATCCATCCATCCATCCATCCACCCATCCACCCACCCATC CATCCACCCACCCACCCACCCATCCATCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	426	0.0024	180	c.30 others(191): Show c.3029_*3030insATGGATGGATGGGTGGGTGGGTGGGTGGATGGAT GGGTGGGTGGATGGGTGGATGGATGGATGGATGGATGGATGGATGGGTGG GTGGGTGGGTGGGTGGGTGGATGGATGGATGGGTGGGTGGGTGGGTGGGT GGGTGGGTGGGTGGATGGATGGGTGGATGGGTGGATGGGTGGGTGG	MRGPRG	ENSG00000182170.3	transcript	ENST00000332314.3	protein_coding		3029		chr11	TogoVar
MRPS9_chr2_105033069_105104960	105054579	A A	ACCCCTTT others(173): Show ACCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTAT CGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAA TATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCT TTTGGTATCGCATTTTATTAAATATAGCGGG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	394	0.0025	180	c.315 others(197): Show c.315+6035_315+6214dupCGCATTTTATTAAATATAGCGGGCCCCT TTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATT TTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGC GGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGT AT	MRPS9	ENSG00000135972.9	transcript	ENST00000258455.8	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
MRPS9_chr2_105033069_105104960	105055313	C C	CGCATTTT others(173): Show CGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCATTTTATTAAA TATAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGACCCCT TTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATT TTATTAAATATAGCGGGCCCCTTTTGGTATT	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0073 a0001c0002t0002g0073	1	394	0.0025	180	c.315 others(197): Show c.315+5998_315+5999insTGCATTTTATTAAATATAGCGGGCCCCT TTTGGTATTGCATTTTATTAAATATAGCGGACCCCTTTTGGTATCGCATT TTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGC GGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGT AT	MRPS9	ENSG00000135972.9	transcript	ENST00000258455.8	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
MRPS9_chr2_105033069_105104960	105055529	C C	CGCATTTT others(173): Show CGCATTTTATTAAATATAGCGGACCCCTTTTGGTATCGCATTTTATTAAA TATAGCGGACCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCT TTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCATT TTATTAAATATAGCGGACCCCTTTTGGTATT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02976.hp1 HG02145.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0158 a0001c0001t0001g0134 a0001c0001t0001g0158	2	394	0.0051	180	c.315 others(197): Show c.315+6200_315+6201insACCCCTTTTGGTATCGCATTTTATTAAA TATAGCGGACCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCT TTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCATT TTATTAAATATAGCGGACCCCTTTTGGTATTGCATTTTATTAAATATAGC GG	MRPS9	ENSG00000135972.9	transcript	ENST00000258455.8	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
MRPS9_chr2_105033069_105104960	105055529	C C	CGCATTTT others(173): Show CGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAA TATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGACCCCT TTTGGTATTGCATTTTATTAAATATAGCGGACCCCTTTTGGTATTGCATT TTATTAAATATAGCGGGCCCCTTTTGGTATT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	394	0.0025	180	c.315 others(197): Show c.315+6214_315+6215insCGCATTTTATTAAATATAGCGGGCCCCT TTTGGTATCGCATTTTATTAAATATAGCGGACCCCTTTTGGTATTGCATT TTATTAAATATAGCGGACCCCTTTTGGTATTGCATTTTATTAAATATAGC GGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGT AT	MRPS9	ENSG00000135972.9	transcript	ENST00000258455.8	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
MRPS9_chr2_105033069_105104960	105055529	C C	CGCATTTT others(173): Show CGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAA TATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCT TTTGGTATTGCATTTTATTAAATATAGCGGACCCCTTTTGGTATTGCATT TTATTAAATATAGCGGGCCCCTTTTGGTATT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02896.hp1 HG02897.hp2 HG02809.hp1 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144	3	394	0.0076	180	c.315 others(197): Show c.315+6214_315+6215insCGCATTTTATTAAATATAGCGGGCCCCT TTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCATT TTATTAAATATAGCGGACCCCTTTTGGTATTGCATTTTATTAAATATAGC GGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGT AT	MRPS9	ENSG00000135972.9	transcript	ENST00000258455.8	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
MRPS9_chr2_105033069_105104960	105055529	C C	CGCATTTT others(173): Show CGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAA TATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCT TTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCATT TTATTAAATATAGCGGGCCCCTTTTGGTATT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	394	0.0025	180	c.315 others(197): Show c.315+6214_315+6215insCGCATTTTATTAAATATAGCGGGCCCCT TTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCATT TTATTAAATATAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATATAGC GGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGT AT	MRPS9	ENSG00000135972.9	transcript	ENST00000258455.8	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
MSLN_chr16_755734_773862	767791	G G	GGGTGTGG others(173): Show GGGTGTGGAGGGGGGCGCATGGGGGTGCGTGGGGGGGCGCGTGGAGGGGG GGCGTGTGGGGGGGGCCGCGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAA GGGGCCGCGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTG GGGGGGCGCATGGGGGGGCGTGGAGGGGGGT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0213 a0002c0003t0004g0213	1	388	0.0026	180	c.159 others(197): Show c.1596+322_1596+323insGTGTGGAGGGGGGCGCATGGGGGTGCGT GGGGGGGCGCGTGGAGGGGGGGCGTGTGGGGGGGGCCGCGTGGGGGGGCG TGGAGGAGGGGCGCGTGGAAGGGGCCGCGTGGGGGGGCGTGGAGGAGGGG CGCGTGGAGGGGGGCGCGTGGGGGGGCGCATGGGGGGGCGTGGAGGGGGG TG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	769162	T T	TGGCCCCG others(173): Show TGGCCCCGGCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCGGCCCCA CCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCACCCCCGGCCCCGGC CCCACCCCCACCCCCAGCCCCGGCCCCACCCCCGGCCCCAGCCCCGGCCC CACCCCCGGCCCCGGCCCCACCCCCGGCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0002 a0003c0004t0003g0002	1	388	0.0026	180	c.42 others(189): Show c.429_*430insGGCCCCGGCCCCGGCCCCGGCCCCACCCCCGGCCCC GGCCCCGGCCCCACCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCAC CCCCGGCCCCGGCCCCACCCCCACCCCCAGCCCCGGCCCCACCCCCGGCC CCAGCCCCGGCCCCACCCCCGGCCCCGGCCCCACCCCCGGCCCC	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding		301		chr16	TogoVar
MSLN_chr16_755734_773862	769164	G G	GCCCCAGC others(173): Show GCCCCAGCCCCGGCCCCGGCCCCAGCCCCGGCCCCACCCCCGGCCCCAGC CCCAGCCCCAGCCCCAGCCCCACCCCCGGCCCCAGCCCCAGCCCCAGCCC CAGCCCCGGCCCCACCCCCACCCCCGGCCCCGGCCCCGGCCCCAGCCCCG GCCCCGGCCCCACCCCCGGCCCCGGCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0330 a0002c0002t0002g0330	1	388	0.0026	180	c.43 others(189): Show c.431_*432insCCCCAGCCCCGGCCCCGGCCCCAGCCCCGGCCCCAC CCCCGGCCCCAGCCCCAGCCCCAGCCCCAGCCCCACCCCCGGCCCCAGCC CCAGCCCCAGCCCCAGCCCCGGCCCCACCCCCACCCCCGGCCCCGGCCCC GGCCCCAGCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCAC	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding		303		chr16	TogoVar
MSLN_chr16_755734_773862	769170	G G	GCCCCGGC others(173): Show GCCCCGGCCCCGGCCCCAGCCCCGGCCCCACCCCCGGCCCCAGCCCCAGC CCCAGCCCCAGCCCCACCCCCGGCCCCAGCCCCAGCCCCAGCCCCAGCCC CGGCCCCACCCCCACCCCCGGCCCCGGCCCCGGCCCCGGCCCCAGCCCCG GCCCCGGCCCCACCCCCGGCCCCGGCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0268 a0002c0003t0002g0268	1	388	0.0026	180	c.43 others(189): Show c.437_*438insCCCCGGCCCCGGCCCCAGCCCCGGCCCCACCCCCGG CCCCAGCCCCAGCCCCAGCCCCAGCCCCACCCCCGGCCCCAGCCCCAGCC CCAGCCCCAGCCCCGGCCCCACCCCCACCCCCGGCCCCGGCCCCGGCCCC GGCCCCAGCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCAC	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding		309		chr16	TogoVar
MSLN_chr16_755734_773862	769199	A A	ACCCCCGG others(173): Show ACCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGG CCCCACCCCCGGCCCCGGCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCC CCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCACCCCCGGCCCC GGCCCCGGCCCCGGCCCCACCCCCACCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0234 a0002c0003t0004g0234	1	388	0.0026	180	c.46 others(189): Show c.466_*467insCCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCG GCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCGGCCCCGGCCCCACC CCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCC CACCCCCGGCCCCGGCCCCGGCCCCGGCCCCACCCCCACCCCCG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding		338		chr16	TogoVar
MSLN_chr16_755734_773862	769205	A A	ACCCCCGG others(173): Show ACCCCCGGCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCACCCCCGG CCCCGGCCCCACCCCCACCCCCGGCCCCGGCCCCACCCCCGGCCCCAGCC CCGGCCCCACCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCGGCCCC GGCCCCGGCCCCACCCCCGGCCCCGGCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0274 a0003c0004t0003g0274	1	388	0.0026	180	c.47 others(189): Show c.472_*473insCCCCCGGCCCCGGCCCCGGCCCCACCCCCGGCCCCG GCCCCACCCCCGGCCCCGGCCCCACCCCCACCCCCGGCCCCGGCCCCACC CCCGGCCCCAGCCCCGGCCCCACCCCCGGCCCCGGCCCCACCCCCGGCCC CGGCCCCGGCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding		344		chr16	TogoVar
MUC4_chr3_195741771_195816929	195775665	C C	CCATACCT others(173): Show CCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATA CCTTCCACCGTCATACCTTCCACACCCATACCTTCCACACCCATACCTTC CACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAG TCATACCTTCCACACCCATACCTTCCACAGT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG03017.hp1 HG03704.hp1 HG01256.hp1 HG03017.hp1 HG03704.hp1	a0023 a0051 a0023 a0051	a0023c0024 a0051c0186 a0023c0024 a0051c0186	a0023c0024t0003 a0051c0186t0003 a0023c0024t0003 a0051c0186t0003	a0023c0024t0003g0219 a0023c0024t0003g0221 a0051c0186t0003g0220 a0023c0024t0003g0219 a0023c0024t0003g0221 a0051c0186t0003g0220	3	249	0.0121	180	c.129 others(201): Show c.12944-1361_12944-1360insACTGTGGAAGGTATGGGTGTGGAA GGTATGACTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTAT GGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGACGG TGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAA GGTATG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195775800	C C	CCATACCT others(173): Show CCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACAGTCATA CCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTC CACATCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAC CCTTACCTTCCACACCCATACCTTCCACAGT	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0146 a0146	a0146c0188 a0146c0188	a0146c0188t0003 a0146c0188t0003	a0146c0188t0003g0218 a0146c0188t0003g0218	1	249	0.0040	180	c.129 others(201): Show c.12944-1496_12944-1495insACTGTGGAAGGTATGGGTGTGGAA GGTAAGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTAT GGATGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTG TGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAA GGTATG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195776535	C C	CCATACCT others(173): Show CCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACAGTCATA CCTTCCACAGTCATACCTTCCGCACCCATACCTTCCACAGTCATACCTTC CGCACCCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCCGCAC CCATACCTTCCGCACCCATACCTTCCACAGT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0083 a0083	a0083c0153 a0083c0153	a0083c0153t0001 a0083c0153t0001	a0083c0153t0001g0045 a0083c0153t0001g0045	1	249	0.0040	180	c.129 others(201): Show c.12943+1767_12943+1768insACTGTGGAAGGTATGGGTGCGGAA GGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTAT GGGTGCGGAAGGTATGACTGTGGAAGGTATGGGTGCGGAAGGTATGACTG TGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAA GGTATG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195776550	C C	CCATACCT others(173): Show CCATACCTTCCACAGTCATAACTTCCACAGTCATACCTTCCACACCCATA CCTTCCACAGTCATACCTTCCACACCCATACCTTCCACACCCATACCTTC CACACCCATACCTTCCACACCCATACCTTCCACAGTCATACCTTCCACAG TCATACCTTCCACACCCATACCTTCCACAGT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0081 a0081	a0081c0136 a0081c0136	a0081c0136t0002 a0081c0136t0002	a0081c0136t0002g0026 a0081c0136t0002g0026	1	249	0.0040	180	c.129 others(201): Show c.12943+1752_12943+1753insACTGTGGAAGGTATGGGTGTGGAA GGTATGACTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTAT GGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGACTG TGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGTTATGACTGTGGAA GGTATG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195777029	C C	CCCATACC others(173): Show CCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCAT ACCTTCCACACCCATACCTTCCACACCCATACCTTCCACATCCATACCTT CCACACCCATACCTTCCACACCCATACCTTCCACACCCATAACTTCCACA CCCATACCTTCCACATCCATACCTTCCACGG	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA19070.hp1 HG00621.hp2 NA19070.hp1	a0004 a0145 a0004 a0145	a0004c0007 a0145c0196 a0004c0007 a0145c0196	a0004c0007t0003 a0145c0196t0003 a0004c0007t0003 a0145c0196t0003	a0004c0007t0003g0152 a0145c0196t0003g0208 a0004c0007t0003g0152 a0145c0196t0003g0208	2	249	0.0080	180	c.129 others(201): Show c.12943+1273_12943+1274insCCGTGGAAGGTATGGATGTGGAAG GTATGGGTGTGGAAGTTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATG GGTGTGGAAGGTATGGATGTGGAAGGTATGGGTGTGGAAGGTATGGGTGT GGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAG GTATGG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195777148	A A	ACCCATAC others(173): Show ACCCATACCTTCCACACCCATACCTTCCACGGCCATACCTTCCACACCCA TACCTTCCACACCCATACCTTCCACACCCATACCTTCCACATCCATACCT TCCACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCAC ACCCATACCTTCCACGGCCATACCTTCCACG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02723.hp1 HG02615.hp1 HG02723.hp1	a0084 a0091 a0084 a0091	a0084c0192 a0091c0193 a0084c0192 a0091c0193	a0084c0192t0004 a0091c0193t0003 a0084c0192t0004 a0091c0193t0003	a0084c0192t0004g0242 a0091c0193t0003g0213 a0084c0192t0004g0242 a0091c0193t0003g0213	2	249	0.0080	180	c.129 others(201): Show c.12943+1154_12943+1155insCGTGGAAGGTATGGCCGTGGAAGG TATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGG GTGTGGAAGGTATGGATGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTG GAAGGTATGGGTGTGGAAGGTATGGCCGTGGAAGGTATGGGTGTGGAAGG TATGGG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195777510	T T	TCATACCT others(173): Show TCATACCTTCCACACCCTTACCTTCCACACCCATACCTTCCACAGTCATA CCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTC CACGGCCATACCTTCCACACCCTTACCTTCCACACCCTTACCTTCCACAC CCATACCTTCCACACCCATACCTTCCACACC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0102 a0102	a0102c0194 a0102c0194	a0102c0194t0012 a0102c0194t0012	a0102c0194t0012g0239 a0102c0194t0012g0239	1	249	0.0040	180	c.129 others(199): Show c.12943+792_12943+793insGGTGTGGAAGGTATGGGTGTGGAAGG TATGGGTGTGGAAGGTAAGGGTGTGGAAGGTAAGGGTGTGGAAGGTATGG CCGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTG GAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTAAGGGTGTGGAAGG TATG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195815885	A A	ACATCCTC others(173): Show ACATCCTCCTGCCCAGCCCGGCCTCCTTCTCCTTACGCAGGTGCCGCATC CTCCTGCCCAGCCCGGCCTCCTTCTCCTTACGCAGGTGCCACATCCTCCT GCCCAGCCCGGCCTCCTTCTCCTTACGCAGGTGCCACATCCTCCTGCCCA GCCCGGCCTCCTTCTCCTTACGCAGGTGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01891.hp1 HG01069.hp1 HG01071.hp2 HG01891.hp1	a0001 a0060 a0001 a0060	a0001c0016 a0060c0041 a0001c0016 a0060c0041	a0001c0016t0002 a0060c0041t0001 a0001c0016t0002 a0060c0041t0001	a0001c0016t0002g0180 a0001c0016t0002g0181 a0060c0041t0001g0179 a0001c0016t0002g0180 a0001c0016t0002g0181 a0060c0041t0001g0179	3	249	0.0121	180	c.-40 others(191): Show c.-4069_-4068insCGGCACCTGCGTAAGGAGAAGGAGGCCGGGCTGG GCAGGAGGATGTGGCACCTGCGTAAGGAGAAGGAGGCCGGGCTGGGCAGG AGGATGTGGCACCTGCGTAAGGAGAAGGAGGCCGGGCTGGGCAGGAGGAT GCGGCACCTGCGTAAGGAGAAGGAGGCCGGGCTGGGCAGGAGGATG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding		3957		chr3	TogoVar
MUSK_chr9_110663791_110811558	110681088	T T	TATATTAA others(173): Show TATATTAATATTATATATATTATATATATTATATATATTATATAATATAT ATTATATATAATATATATTATATTATATATTATATTATATATATAATATA TATAATATAATATATAATATAATATATATTATATATAATATATATTATAT TATATATTATATTATATATATTATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02280.hp1 HG02922.hp1 HG02145.hp2 HG02280.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0175 a0001c0001t0009g0176 a0001c0001t0009g0177 a0001c0001t0009g0175 a0001c0001t0009g0176 a0001c0001t0009g0177	3	326	0.0092	180	c.80- others(195): Show c.80-1582_80-1581insTAATATTATATATATTATATATATTATATA TATTATATAATATATATTATATATAATATATATTATATTATATATTATAT TATATATATAATATATATAATATAATATATAATATAATATATATTATATA TAATATATATTATATTATATATTATATTATATATATTATATATATAATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MYDGF_chr19_4652545_4675342	4663421	T T	TCCACCCA others(173): Show TCCACCCACCCCATCCTCATTCTACAGCATCCAATCTACTCTCCCCACCT ACCCCATCCTCATTCTACACAGCCTCCAATCTGTGCCCTCTCCACCCACC CCATCCTCATTCTACACAGCCTCCAATCTACCCTCCCCACCCACCCCATC CTCATTCTACACAGCCTCCAATCTACCCTCC	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	410	0.0024	180	c.287 others(197): Show c.287+1454_287+1455insGGAGGGTAGATTGGAGGCTGTGTAGAAT GAGGATGGGGTGGGTGGGGAGGGTAGATTGGAGGCTGTGTAGAATGAGGA TGGGGTGGGTGGAGAGGGCACAGATTGGAGGCTGTGTAGAATGAGGATGG GGTAGGTGGGGAGAGTAGATTGGATGCTGTAGAATGAGGATGGGGTGGGT GG	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding	3/5			chr19	TogoVar
MYNN_chr3_169768396_169794716	169771201	C C	CATAAATA others(173): Show CATAAATATAAAAATTTATGTTTATATATCATAAATATAAAAATTTATGT TTATATATCATAAATATAAAAATTTATGTTTATATATAATAAATATATAA AAATTTATGTTTATATATAATAAATATATAAAAATTTATGTTTATATATA ATAAATATATAAAAATTTATGTTTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG02155.hp1 HG00673.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0009	2	350	0.0057	180	c.-22 others(191): Show c.-2293_-2292insATAAATATAAAAATTTATGTTTATATATCATAAA TATAAAAATTTATGTTTATATATCATAAATATAAAAATTTATGTTTATAT ATAATAAATATATAAAAATTTATGTTTATATATAATAAATATATAAAAAT TTATGTTTATATATAATAAATATATAAAAATTTATGTTTATATATA	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2194		chr3	TogoVar
MYNN_chr3_169768396_169794716	169771232	C C	CATAAATA others(173): Show CATAAATATAAAAATTTATGTTTATATATCATAAATATAAAAATTTATGT TTATATATCATAAATATAAAAATTTATGTTTATATATAATAAATATATAA AAATTTATGTTTATATATAATAAATATATAAAAATTTATGTTTATATATA ATAAATATATAAAAATTTATGTTTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0009	1	350	0.0029	180	c.-22 others(191): Show c.-2262_-2261insATAAATATAAAAATTTATGTTTATATATCATAAA TATAAAAATTTATGTTTATATATCATAAATATAAAAATTTATGTTTATAT ATAATAAATATATAAAAATTTATGTTTATATATAATAAATATATAAAAAT TTATGTTTATATATAATAAATATATAAAAATTTATGTTTATATATA	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2163		chr3	TogoVar
MYO1F_chr19_8515778_8582442	8543684	G G	GTGGTGGT others(173): Show GTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGCTGGTGGTGG TGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTG GTGGCGGTGGTGGTGGTGGTGGTGGTGGTGC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	342	0.0029	180	c.152 others(197): Show c.1524+612_1524+613insGCACCACCACCACCACCACCACCACCGC CACCACCACCACCAGCACCACCACCACCACCACCACCACCACCAGCACCA CCACCACCACCAGCACCACCACCACCATCACCACCACCACCACCACCACC ACCACCACCACCAGCACCACCACCACCACCACCACCACCACCAGCACCAC CA	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27			chr19	TogoVar
MYT1_chr20_64159452_64247253	64233262	T T	TCCCCTTT others(173): Show TCCCCTTTCCCTCCTCCCCTCTTCCCTCCCTCTCTCTCCTCCCCCTCCCC TCTTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCTCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCC TCTCCCTCCCCTTCCCCTCCCCTCTCCCTCC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0010 a0002c0011t0010	a0002c0011t0010g0081 a0002c0011t0010g0081	1	223	0.0045	180	c.289 others(197): Show c.2897+879_2897+880insCCTTTCCCTCCTCCCCTCTTCCCTCCCT CTCTCTCCTCCCCCTCCCCTCTTCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCT CCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCC CC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64233262	T T	TCCCCTTT others(173): Show TCCCCTTTCCCTCCTCCCCTCTTCCCTCCCTCTCTCTCCTCCCCCTCCCC TCTTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTCTCC CTCCCCTCCCCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCTCCCTCCCCTTCCCCTCCCCTCTCCCTCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03209.hp1 HG03453.hp1 HG01884.hp1 HG03209.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0002 a0001c0015t0002 a0001c0001t0002 a0001c0015t0002	a0001c0001t0002g0142 a0001c0001t0002g0214 a0001c0015t0002g0096 a0001c0001t0002g0142 a0001c0001t0002g0214 a0001c0015t0002g0096	3	223	0.0135	180	c.289 others(197): Show c.2897+879_2897+880insCCTTTCCCTCCTCCCCTCTTCCCTCCCT CTCTCTCCTCCCCCTCCCCTCTTCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCTCCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCC CC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NARF_chr17_82453741_82495537	82482408	A A	ATGTTGAC others(173): Show ATGTTGACAAAATAAAACATGCGCGGTGGGCTGTTGACAAAATAAAACAT GCGCGGTGGGCTGTTGACAAAATAAAACATGCCCGGTGGGCTGTTGACAA AATAAAACATGCGCGGTGGGCTGTTGACAAAATAAAACATGCGCGGTGGG CTGTTGACAAAATAAAACATGCGCGGTGGGC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02895.hp1 HG02896.hp2 HG02622.hp1 HG02895.hp1 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0023 a0001c0002t0013g0023	3	356	0.0084	180	c.769 others(197): Show c.769+1197_769+1198insTGTTGACAAAATAAAACATGCGCGGTGG GCTGTTGACAAAATAAAACATGCGCGGTGGGCTGTTGACAAAATAAAACA TGCCCGGTGGGCTGTTGACAAAATAAAACATGCGCGGTGGGCTGTTGACA AAATAAAACATGCGCGGTGGGCTGTTGACAAAATAAAACATGCGCGGTGG GC	NARF	ENSG00000141562.19	transcript	ENST00000309794.16	protein_coding	7/10			chr17	TogoVar
NCAM2_chr21_20993409_21548329	21411077	C C	CACACATA others(173): Show CACACATATATACATGTGTATATATATATACATATATATGTGTATATATA TACATATATGTGTGTATATATATACACATATATATGTGTATATATACATA TATATACATATATGTGTGTATATATATACACATATATATGTGTATATATA CATATATATACATATATGTGTGTATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03453.hp1 HG02647.hp2 HG03453.hp1	a0002 a0002	a0002c0003 a0002c0010 a0002c0003 a0002c0010	a0002c0003t0012 a0002c0010t0013 a0002c0003t0012 a0002c0010t0013	a0002c0003t0012g0027 a0002c0010t0013g0011 a0002c0003t0012g0027 a0002c0010t0013g0011	2	132	0.0152	180	c.138 others(197): Show c.1383+617_1383+618insCACATATATACATGTGTATATATATATA CATATATATGTGTATATATATACATATATGTGTGTATATATATACACATA TATATGTGTATATATACATATATATACATATATGTGTGTATATATATACA CATATATATGTGTATATATACATATATATACATATATGTGTGTATATATA TA	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAPH2_chr22_50503224_50529780	50504230	C C	CCCCCCCA others(173): Show CCCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCC CCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCC CCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGC CCAGCCTTACCCCTGCACCCCGGGCTCCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0014 a0001c0001t0007g0014	1	384	0.0026	180	c.-41 others(191): Show c.-4108_-4107insCCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGG GCTCCACACCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCT CCACACCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCC ACACCCCCCCGGTGCCCAGCCTTACCCCTGCACCCCGGGCTCCACA	NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding		3993		chr22	TogoVar
NCOR2_chr12_124319415_124572612	124373694	G G	GGCACAGT others(173): Show GGCACAGTGGACAATCATGAGGCCAGTGCGTGCGCAGGGGCCCCGTGCAC AGTGGACAATCATGAGGCCAGTGCGTGCGCAGGGGCCCCGGGCACAGTGG ACAATCATGAGGCCAGTGCGTGCGCAGGGGCCCCGTGCACAGTGGACAAT CATGAGGCCAGTGCGTGCGCAGGGGCCCCGT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0001 a0002c0014t0001	a0002c0014t0001g0119 a0002c0014t0001g0119	1	234	0.0043	180	c.221 others(197): Show c.2218+718_2218+719insACGGGGCCCCTGCGCACGCACTGGCCTC ATGATTGTCCACTGTGCACGGGGCCCCTGCGCACGCACTGGCCTCATGAT TGTCCACTGTGCCCGGGGCCCCTGCGCACGCACTGGCCTCATGATTGTCC ACTGTGCACGGGGCCCCTGCGCACGCACTGGCCTCATGATTGTCCACTGT GC	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	21/48			chr12	TogoVar
NEU1_chr6_31852659_31867821	31853826	C C	CGCAGAGG others(173): Show CGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	419	0.0024	180	c.58 others(191): Show c.5892_*5893insCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC	NEU1	ENSG00000204386.12	transcript	ENST00000375631.5	protein_coding		3832		chr6	TogoVar
NEU1_chr6_31852659_31867821	31853826	C C	CGCAGAGG others(173): Show CGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGGCTGACCCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	419	0.0024	180	c.58 others(191): Show c.5892_*5893insCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGGGTCAGCCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC	NEU1	ENSG00000204386.12	transcript	ENST00000375631.5	protein_coding		3832		chr6	TogoVar
NEU1_chr6_31852659_31867821	31853917	A A	ACCCCCCC others(173): Show ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	419	0.0024	180	c.58 others(191): Show c.5801_*5802insGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCAG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGG	NEU1	ENSG00000204386.12	transcript	ENST00000375631.5	protein_coding		3741		chr6	TogoVar
NEXN_chr1_77883624_77948895	77887912	T T	TTTCTTCT others(173): Show TTTCTTCTTCTTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCT TCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	268	0.0037	180	c.-90 others(189): Show c.-900_-899insTTCTTCTTCTTCTTCCTCTTCCTCTTCCTCTTCCTC TTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTT CCTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	NEXN	ENSG00000162614.19	transcript	ENST00000334785.12	protein_coding		711		chr1	TogoVar
NKX1-1_chr4_1397932_1411442	1397942	C C	CGGGTGTT others(173): Show CGGGTGTTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGT GTTTTCGGGCATCTGGATGTGAGTAGATCAGGTTGGATGCCGGGTGTTTT CAGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGC ATCTGGATGTGGGTAGATCAGGTTGGATGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	382	0.0026	180	c.49 others(191): Show c.4989_*4990insTGCATCCAACCTGATCTACCCACATCCAGATGCC CGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCTGAAA ACACCCGGCATCCAACCTGATCTACTCACATCCAGATGCCCGAAAACACC CTGCATCCAACCTGATCTACCCACATCCAGATGCCTGAAAACACCC	NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding		4989		chr4	TogoVar

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