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
LMF1_chr16_848634_975984	858988	C C	CAGTGGTG others(291): Show CAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCAG TGGTGTCTCGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGT GTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTC TCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCACG GGATGGGTGTGCAGTGATGTCACGGGATGGGTGTGAGTGGTGTCACGGGA TGGGTGTGAGTGGTGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0049 a0001c0004t0001g0049	1	262	0.0038	298	c.153 others(317): Show c.1530-4283_1530-4282insCACACCCATCCCGTGACACCACTCAC ACCCATCCCACCACTCACACCCATCCCGTGACACCACTCACACCCATCCC GTGACATCACTGCACACCCATCCCGTGACACCACTCACACCCATCCCGAG ACACCACTGCACACCCATCCCGAGACACCACTGCACACCCATCCCGAGAC ACCACTCACACCCATCCCGAGACACCACTCACACCCATCCCGTGACACCA CTCACACCCATCCCGAGACACCACTGCACACCCATCCCGAGACACCACTC ACACCCATCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	859484	G G	GTGGTGTC others(291): Show GTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGG TGTCACGGGACGGGTGTGAGTGATGTCTCGGGACCGGTGTGAGTGGTGTC ACGGGACCGGTGTGAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTCG GGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGAC GGGTGTGAGTGGTGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGA GTGGTGTCTCGGGACGGGTGTGCCGTGGTGTCTCGGGACGGGTGTGCCC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03453.hp2 HG03139.hp2 HG03453.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0039 a0001c0001 a0010c0039	a0001c0001t0002 a0010c0039t0002 a0001c0001t0002 a0010c0039t0002	a0001c0001t0002g0136 a0010c0039t0002g0264 a0001c0001t0002g0136 a0010c0039t0002g0264	2	287	0.0070	298	c.153 others(317): Show c.1530-4779_1530-4778insGGGCACACCCGTCCCGAGACACCACG GCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTGCA CACCCGTCCCACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCC CGTGACACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGT GACACCACTCACACCGGTCCCGTGACACCACTCACACCGGTCCCGAGACA TCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACCAC TCACACCCGTCCCGAGACACCA	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LOC128125818_chr4_6059977_6075162	6067579	G G	GCACTCAA others(291): Show GCACTCAAGCTCTTCCGCACACACAGGTCACCCCCCTGAGCTCCAGGTTC ACTCAAGCTCTTCTGCACACACACACACAGGTCACCCCCTGAGCTCCAGG TTCACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCACGTT CACTCAAGCTCTTCTGCACACGCAGGTCACCCCCCTGAGCTCCACGTTCA CTCAAGCTCTTCTGCACACGCAGGTCACCCCCCTGAGCTCCACGTTCACT CAAGCTCTTCTGCACACACACACACAGGTCACCCCCTGAGCTCCAGGTT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG01516.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0095 a0001c0001t0001g0085 a0001c0001t0001g0095	2	357	0.0056	298	c.106 others(315): Show c.106+2477_106+2478insAACCTGGAGCTCAGGGGGTGACCTGTGT GTGTGTGTGCAGAAGAGCTTGAGTGAACGTGGAGCTCAGGGGGGTGACCT GCGTGTGCAGAAGAGCTTGAGTGAACGTGGAGCTCAGGGGGGTGACCTGC GTGTGCAGAAGAGCTTGAGTGAACGTGGAGCTCAGGGGGGTGACCTGTGT GTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGTGACCTGTGTGTG TGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTGACCTGTG TGTGCGGAAGAGCTTGAGTG	LOC128125818	ENSG00000284684.1	transcript	ENST00000636216.1	protein_coding	1/1			chr4	TogoVar
LOC128125818_chr4_6059977_6075162	6067594	T T	TGCACACA others(291): Show TGCACACACAGGTCACCCCCCTGAGCTCCAGGTTCACTCAAGCTCTTCTG CACACACACACACAGGTCACCCCCTGAGCTCCAGGTTCACTCAAGCTCTT CTGCACACACAGGTCACCCCCCTGAGCTCCAGGTTCACTCAAGCTCTTCT GCACACACAGGTCACCCCCCTGAGCTCCACGTTCACTCAAGCTCTTCCGC ACACACAGGTCACCCCCCTGAGCTCCAGGTTCACTCAAGCTCTTCTGCAC ACACACACACAGGTCACCCCCTGAGCTCCAGGTTCACTCAAGCTCTTCC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03130.hp1 HG02257.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	2	425	0.0047	298	c.106 others(315): Show c.106+2462_106+2463insGGAAGAGCTTGAGTGAACCTGGAGCTCA GGGGGTGACCTGTGTGTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGC TCAGGGGGGTGACCTGTGTGTGCGGAAGAGCTTGAGTGAACGTGGAGCTC AGGGGGGTGACCTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAG GGGGGTGACCTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGG GGTGACCTGTGTGTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCA GGGGGGTGACCTGTGTGTGC	LOC128125818	ENSG00000284684.1	transcript	ENST00000636216.1	protein_coding	1/1			chr4	TogoVar
LOC128125818_chr4_6059977_6075162	6067677	G G	GGTTCACT others(291): Show GGTTCACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCAGG TTCACTCAAGCTCTTCTGCACACACACACACAGGTCACCCCCTGAGCTCC AGGTTCACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCAG GTTCACTCAAGCTCTTCTGCACACACACACACAGGTCACCCCCTGAGCTC CAGGTTCACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCA CGTTCACTCAAGCTCTTCTGCACACGCAGGTCACCCCCCTGAGCTCCAC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01978.hp1 HG00558.hp2 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0171 a0001c0001t0001g0172	2	272	0.0074	298	c.106 others(315): Show c.106+2379_106+2380insGTGGAGCTCAGGGGGGTGACCTGCGTGT GCAGAAGAGCTTGAGTGAACGTGGAGCTCAGGGGGGTGACCTGTGTGTGC AGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGTGACCTGTGTGTGTGTG TGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTGACCTGTGTGTG CAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGTGACCTGTGTGTGTGT GTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTGACCTGTGTGT GCAGAAGAGCTTGAGTGAAC	LOC128125818	ENSG00000284684.1	transcript	ENST00000636216.1	protein_coding	1/1			chr4	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(291): Show CCACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGCC ACTTACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGG CCACTTACTTACTTACTACATACCCGGGCCACTTACCTACTACACACCCG GGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCTACTACA CACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCT ACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0011 a0011	a0011c0023 a0011c0023	a0011c0023t0006 a0011c0023t0006	a0011c0023t0006g0136 a0011c0023t0006g0136	1	6	0.1667	298	c.368 others(315): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGT GTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTGGCCCGGGT ATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGG GTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCC GGGTATGTAGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRRC73_chr6_43501968_43515346	43502053	C C	CACACACA others(291): Show CACACACACACACACACACACACACACACACACACTCTCTCTCTCTCTCT CTGTCTCTCTCCTTTCATAGGAGGTTAGCTGGAAGATGCCTTAGAGATCA TCTAATTCCTATTAAAAAACTGGATAAGTTCTGCAGGTGTGGGAATGCGG GGCCACACACACACACACACACACACACTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCCTTTCATAGGAGGTTAGCTGGAAGATGCCTTAGAGATCATCT AATTCTTATTAGAAAACTGGATAAGTTCTGCAGGTGTGGGAATGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0006 a0001c0001t0006g0006	1	364	0.0027	298	c.51 others(309): Show c.5184_*5185insCCCCGCATTCCCACACCTGCAGAACTTATCCAGT TTTCTAATAAGAATTAGATGATCTCTAAGGCATCTTCCAGCTAACCTCCT ATGAAAGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGTGTGTGTGTGTG TGTGTGTGTGTGGCCCCGCATTCCCACACCTGCAGAACTTATCCAGTTTT TTAATAGGAATTAGATGATCTCTAAGGCATCTTCCAGCTAACCTCCTATG AAAGGAGAGAGACAGAGAGAGAGAGAGAGAGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGT	LRRC73	ENSG00000204052.5	transcript	ENST00000372441.2	protein_coding		4914		chr6	TogoVar
LTBP1_chr2_32941953_33404509	33179655	T T	TAGAAATT others(291): Show TAGAAATTTAATTAGCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATG AGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGG AGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGG GCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02809.hp1 HG02886.hp1 others(2): Show HG02630.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp1 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0004c0044	a0001c0001t0037 a0001c0002t0013 a0001c0006t0012 others(2): Show a0001c0001t0037 a0001c0002t0013 a0001c0006t0012 a0001c0006t0031 a0004c0044t0012	a0001c0001t0037g0072 a0001c0002t0013g0056 a0001c0006t0012g0089 others(2): Show a0001c0001t0037g0072 a0001c0002t0013g0056 a0001c0006t0012g0089 a0001c0006t0031g0041 a0004c0044t0012g0063	5	153	0.0327	298	c.120 others(317): Show c.1202-7187_1202-7186insCCAGCACTTTGGGAGGCCGAGGCGGG TGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAAC CCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGC CTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCC GGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGT CCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA AAAAAAAAAGAAATTTAATTAG	LTBP1	ENSG00000049323.16	transcript	ENST00000404816.7	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAD1L1_chr7_1810795_2237945	1930522	T T	TGCCACGT others(291): Show TGCCACGTCCCCTCGCCCCGTCCCCTACTGCCACATCCCACCACCACGTC CACACTGCCATGTCCCCTCGCCCCATCCCCCACTGCCACGTCCCCTCACC CCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCACACTGCCACGTCCCCT CGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTC CCCTCATCCCGTCCCCACTGCCACATCCCACCACCACGTCCACACTGCCA TGTCCCCTCGCCCCATCCCCCTGCCACGTCCGCTTACCCCATACCCACC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG03139.hp2 others(1): Show HG02896.hp2 HG02897.hp2 HG03139.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0010 a0001c0001 a0001c0003 a0001c0010	a0001c0001t0001 a0001c0003t0001 a0001c0010t0001 a0001c0001t0001 a0001c0003t0001 a0001c0010t0001	a0001c0001t0001g0172 a0001c0003t0001g0133 a0001c0003t0001g0134 others(1): Show a0001c0001t0001g0172 a0001c0003t0001g0133 a0001c0003t0001g0134 a0001c0010t0001g0084	4	13	0.3077	298	c.180 others(317): Show c.1807+6164_1807+6165insGGTGGGTATGGGGTAAGCGGACGTGG CAGGGGGATGGGGCGAGGGGACATGGCAGTGTGGACGTGGTGGTGGGATG TGGCAGTGGGGACGGGATGAGGGGACGTGGCAGTGGGGACGGGGCGAGGG GACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGTGGACGGGGCG AGGGGACGTGGCAGTGGGGACGGGGTGAGGGGACGTGGCAGTGGGGGATG GGGCGAGGGGACATGGCAGTGTGGACGTGGTGGTGGGATGTGGCAGTAGG GGACGGGGCGAGGGGACGTGGC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MBNL3_chrX_132364320_132494038	132396745	T T	TATTCATA others(291): Show TATTCATATATATATTCATATATATATTCATATATATATTCATATATATT CATATATATTCATATATATATTCATATATATTCATATATATATTCATATA TATTCATATATATATTCATATATATATTCATATATATATTCATATATATT CATATATATTCATATATATTCATATATATATTCATATATATTCATATATA TATTCATATATATTCATATATATATTCATATATATATTCATATATATTCA TATATATTCATATATATATTCATATATATATATATTCATATATATATTC	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	109	0.0092	298	c.343 others(315): Show c.343-4412_343-4411insGAATATATATATGAATATATATATATAT GAATATATATATGAATATATATGAATATATATGAATATATATATGAATAT ATATATGAATATATATGAATATATATATGAATATATATGAATATATATAT GAATATATATGAATATATATGAATATATATGAATATATATATGAATATAT ATATGAATATATATATGAATATATATGAATATATATATGAATATATATGA ATATATATATGAATATATATGAATATATATGAATATATATATGAATATAT ATATGAATATATATATGAAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MED16_chr19_862963_898187	878739	G G	GCCAGCCC others(291): Show GCCAGCCCCACGTGCCCCAGCAGCTCACCTTCCCGTGGTTGTCAATGCCC ACCAAGCCCAGCCCCACGTGCCCCAGCAGCTCACCTTCCCCTGGCTGTCA ATCCCCACCAGCCCCAGCCCCACGTGCCCCAGCAGCTCACCTTCCCCTGG TTGTCAATGCCCACCAGCCCCAGCCCCACGTGCCCCAGCAGCTCACCTTT CCCTGGTTGTCAATGTCCACCAGCCCCGGCCCCGGCCCCGGCCCCGGCCC CACGTGCCCCAGCAGCTCACCTTCCCCTGGCTGTCAATGCCCACCAGCC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00673.hp2 NA18973.hp2 others(1): Show HG00609.hp1 HG00673.hp2 NA18973.hp2 NA19007.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0008 a0001c0001 a0001c0002 a0002c0008	a0001c0001t0001 a0001c0002t0001 a0002c0008t0001 a0001c0001t0001 a0001c0002t0001 a0002c0008t0001	a0001c0001t0001g0043 a0001c0002t0001g0019 a0001c0002t0001g0026 others(1): Show a0001c0001t0001g0043 a0001c0002t0001g0019 a0001c0002t0001g0026 a0002c0008t0001g0018	4	54	0.0741	298	c.135 others(317): Show c.1353+1197_1353+1198insGGCTGGTGGGCATTGACAGCCAGGGG AAGGTGAGCTGCTGGGGCACGTGGGGCCGGGGCCGGGGCCGGGGCCGGGG CTGGTGGACATTGACAACCAGGGAAAGGTGAGCTGCTGGGGCACGTGGGG CTGGGGCTGGTGGGCATTGACAACCAGGGGAAGGTGAGCTGCTGGGGCAC GTGGGGCTGGGGCTGGTGGGGATTGACAGCCAGGGGAAGGTGAGCTGCTG GGGCACGTGGGGCTGGGCTTGGTGGGCATTGACAACCACGGGAAGGTGAG CTGCTGGGGCACGTGGGGCTGG	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	8/15			chr19	TogoVar
MEI4_chr6_77648039_77932045	77654537	T T	TAAAAAAT others(291): Show TAAAAAATTGAAAACAATGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAC GGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAGCCGGGCGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAG TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp2 NA19005.hp1 HG01358.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0030 a0001c0001t0006g0031 a0001c0001t0001g0030 a0001c0001t0006g0031	2	191	0.0105	298	c.-15 others(315): Show c.-15+1462_-15+1463insGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAGCCGGGCGT AGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAA TGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACT GCAGTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAAAATTGAAAACAAT	MEI4	ENSG00000269964.4	transcript	ENST00000684080.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
METRNL_chr17_83074609_83100122	83090485	A A	ACCCCCCC others(291): Show ACCCCCCCCCACACACACCCCGCCCCACACACACACCCCCCGCCCCACAC ACACACCCCCCGCCCCACACACACACACCCCGCCCCACACACACACCCCC CGCCCCACACACACACACACCCCCGCCCCACACACACACACCCCCCGCCC CACACACACACACCCCCGCCCCACACACACACACCCCCGCCCCGCCCCAG GGTGGGAGCCACACACACACCCCCCACCCCCCGCCCCAGGGTGGGAGCCA CACACACACACACCCCCCCACACACACACCCCCCGCCCCACACACACAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0102 a0002c0005t0002g0102	1	259	0.0039	298	c.557 others(315): Show c.557-2677_557-2676insCCCCACACACACCCCGCCCCACACACAC ACCCCCCGCCCCACACACACACCCCCCGCCCCACACACACACACCCCGCC CCACACACACACCCCCCGCCCCACACACACACACACCCCCGCCCCACACA CACACACCCCCCGCCCCACACACACACACCCCCGCCCCACACACACACAC CCCCGCCCCGCCCCAGGGTGGGAGCCACACACACACCCCCCACCCCCCGC CCCAGGGTGGGAGCCACACACACACACACCCCCCCACACACACACCCCCC GCCCCACACACACACCCCCC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
MMD2_chr7_4900998_4964187	4959821	G G	GGGTGGAG others(291): Show GGGTGGAGGGAGTGGAAAGTGGGGGGTTGGGGGGAGTGGGGGACCTGGGG GTGGAGGAAGTGGGGGGTTCGTGGGAAGAAGGGGACCTGGAGGTGGAGGG AGTGGGAAGTCGGGGTGTTGGGGGGGGAGTGAGGGGGTTAGTGGGAAGAG AGGGACTTGGAGGTTGGGGGAGTGGGAAGTGGGGGTGTTGGAGGGAGTGG GGGACCTGGGGGTGGGGGGAGTGGGAAGTGGGGGTGTTGGGGGGGGAGTG AGGGGGTTAGTGGGAAGAGAGGGACTTGGAGGTTGGGGGAGTGGGAAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00438.hp2 others(74): Show HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01106.hp2 HG01109.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01884.hp1 HG01891.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02074.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02155.hp2 HG02258.hp2 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02698.hp2 HG02735.hp1 HG03041.hp1 HG03195.hp1 HG03239.hp2 HG03490.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03942.hp1 HG04204.hp1 HG04228.hp1 NA18942.hp2 NA18952.hp1 NA18962.hp2 NA18963.hp2 NA18969.hp2 NA18971.hp1 NA18977.hp1 NA18981.hp1 NA18982.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18993.hp2 NA18995.hp2 NA19002.hp1 NA19005.hp1 NA19005.hp2 NA19012.hp1 NA19057.hp1 NA19066.hp2 NA19067.hp1 NA19074.hp1 NA19085.hp2 NA19087.hp2 NA19090.hp1 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0017 a0001c0001t0021 a0001c0001t0024 a0001c0001t0030 a0001c0002t0001 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0007t0025	a0001c0001t0001g0020 a0001c0001t0001g0032 a0001c0001t0001g0054 others(73): Show a0001c0001t0001g0020 a0001c0001t0001g0032 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0070 a0001c0001t0001g0081 a0001c0001t0001g0094 a0001c0001t0002g0001 a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0028 a0001c0001t0002g0038 a0001c0001t0002g0059 a0001c0001t0002g0078 a0001c0001t0002g0085 a0001c0001t0002g0093 a0001c0001t0002g0154 a0001c0001t0002g0227 a0001c0001t0003g0010 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0037 a0001c0001t0003g0039 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0056 a0001c0001t0003g0060 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0089 a0001c0001t0003g0097 a0001c0001t0003g0164 a0001c0001t0005g0072 a0001c0001t0005g0077 a0001c0001t0005g0082 a0001c0001t0006g0049 a0001c0001t0006g0063 a0001c0001t0006g0064 a0001c0001t0006g0065 a0001c0001t0006g0076 a0001c0001t0006g0084 a0001c0001t0006g0088 a0001c0001t0010g0041 a0001c0001t0010g0357 a0001c0001t0010g0358 a0001c0001t0011g0073 a0001c0001t0011g0249 a0001c0001t0017g0053 a0001c0001t0021g0047 a0001c0001t0024g0018 a0001c0001t0030g0091 a0001c0002t0001g0036 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0230 a0001c0002t0001g0233 a0001c0002t0001g0236 a0001c0002t0005g0184 a0001c0002t0006g0248 a0001c0002t0008g0040 a0001c0002t0008g0042 a0001c0002t0008g0044 a0001c0007t0025g0356	77	351	0.2194	298	c.-80 others(307): Show c.-805_-804insACTTCCCACTCCCCCAACCTCCAAGTCCCTCTCTTC CCACTAACCCCCTCACTCCCCCCCCAACACCCCCACTTCCCACTCCCCCC ACCCCCAGGTCCCCCACTCCCTCCAACACCCCCACTTCCCACTCCCCCAA CCTCCAAGTCCCTCTCTTCCCACTAACCCCCTCACTCCCCCCCCAACACC CCGACTTCCCACTCCCTCCACCTCCAGGTCCCCTTCTTCCCACGAACCCC CCACTTCCTCCACCCCCAGGTCCCCCACTCCCCCCAACCCCCCACTTTCC ACTCCCTCCACC	MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding		635		chr7	TogoVar
MSH4_chr1_75791882_75918242	75906518	T T	TTGTATAT others(291): Show TTGTATATATTATATATAATATATATAATATTGTATATATTATATATAAT ATATACAATATTATATATATTATATATAATATATACAATATATATATTAT ATATAATATATACAATATTTTATATATTATATATATAATATATAATATAT ACATGTTATATATTATATATAATATATATACATATTATATATTATATATA ATATATATACATATTATATATAATATATATACATATTATATTATATATAA TATATATACATATTATATATAATATATAATATATTACATATTATATATA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0151 a0001c0004t0003g0151	1	38	0.0263	298	c.262 others(317): Show c.2620-6178_2620-6177insTGTATATATTATATATAATATATATA ATATTGTATATATTATATATAATATATACAATATTATATATATTATATAT AATATATACAATATATATATTATATATAATATATACAATATTTTATATAT TATATATATAATATATAATATATACATGTTATATATTATATATAATATAT ATACATATTATATATTATATATAATATATATACATATTATATATAATATA TATACATATTATATTATATATAATATATATACATATTATATATAATATAT AATATATTACATATTATATATA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19			chr1	TogoVar
MXRA8_chr1_1347691_1363555	1350946	G G	GGAGGGGG others(291): Show GGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCC GCAGGAGCGACGGGGGGAGTGAGGGGGCCTGGACCGGGCAGGAGCGACGG GGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAG GAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCT GGACCGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCA GGAGCGACGGGGGGAGTGAGGAGGGGGCCGCAGGAGCGACGGGGGGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp1 NA18948.hp2 NA18943.hp1 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	2	308	0.0065	298	c.26 others(309): Show c.2657_*2658insACTCCCCCCGTCGCTCCTGCGGCCCCCTCCTCAC TCCCCCCGTCGCTCCTGCCCGGTCCAGGCCCCCTCCTCACTCCCCCCGTC GCTCCTGCCCGGTCCAGGCCCCCTCCTCACTCCCCCCGTCGCTCCTGCCC GGTCCAGGCCCCCTCCTCACTCCCCCCGTCGCTCCTGCCCCGTCCAGGCC CCCTCCTCACTCCCCCCGTCGCTCCTGCCCGGTCCAGGCCCCCTCACTCC CCCCGTCGCTCCTGCGGCCCCCTCCTCACTCCCCCCGTCGCTCCTGCCCG GTCCAGGCCCCCTC	MXRA8	ENSG00000162576.17	transcript	ENST00000309212.11	protein_coding		1744		chr1	TogoVar
MYBPC2_chr19_50427892_50471321	50434965	G G	GTGGGGGC others(291): Show GTGGGGGCCTGGACTCTTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGA CTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGA GGGAGGAGGGGCTGGGGGGTCTGGACTCCTGCGTCTGAGGGAGGAGGGGC TGGGGGCCTGGACTCTTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGAC TCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAG GGAGGAGGGGCTGGGGGGTCTGGACTCCTGCGTCTGAGGGAGGAGGGGC	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0071 a0001c0002t0001g0071	1	388	0.0026	298	c.20- others(309): Show c.20-53_20-52insAGGGGCTGGGGGCCTGGACTCTTGGGTCTGAGGG AGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGG GGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGGTCTGGACTCC TGCGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCTTGGGTCTGAGGGA GGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGG GCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGGTCTGGACTCCT GCGTCTGAGGGAGG	MYBPC2	ENSG00000086967.10	transcript	ENST00000357701.6	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr19	TogoVar
MYL2_chr12_110905845_110925579	110905890	A A	ATTATATA others(291): Show ATTATATATAATATATATTATATTATATATAATATATATTATATATAATA TATATTATATATAATATATATTATATTATATAATATATATTATATATAAT ATATATTATATATAATATATATTATATATAATATATATTATATAAAATAT ATATTATATTATATATAATATATATTATATTATATATAAAATATTATATA AAATATATATTATATTATATATAATATATATTATATAAAATATATATTAT ATTATATATAATATATATTATATAAAATATATATTATATTATATAATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	358	0.0028	298	c.51 others(309): Show c.5186_*5187insATATTATATAATATAATATATATTTTATATAATA TATATTATATATAATATAATATATATTTTATATAATATATATTATATATA ATATAATATATATTTTATATAATATTTTATATATAATATAATATATATTA TATATAATATAATATATATTTTATATAATATATATTATATATAATATATA TTATATATAATATATATTATATATAATATATATTATATAATATAATATAT ATTATATATAATATATATTATATATAATATATATTATATATAATATAATA TATATTATATATAA	MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding		4954		chr12	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(291): Show GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGCGGCGATGGT GGTGGTGGTGATGGTGGTGGTGGCGGCGGTGGCAGTAGTGGTGGTGGTGG TGATGGTGGTGGTGGTAGTGGTAATGATGGTGGTGACCATGATGGTGGTG GTAGTGGTAGTGCTGCTGGTGGTGGTGGTGGTGATGGTGGTAGTGTTCTG GTGGTAGTAGTGTTGGTTGTGGTGGTAGTCGTGGTGGTAGTGGTAGTGCT GCTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0338 a0001c0001t0002g0338	1	4	0.2500	298	c.160 others(315): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACGACTACCAC CACAACCAACACTACTACCACCAGAACACTACCACCATCACCACCACCAC CACCAGCAGCACTACCACTACCACCACCATCATGGTCACCACCATCATTA CCACTACCACCACCACCATCACCACCACCACCACTACTGCCACCGCCGCC ACCACCACCATCACCACCACCACCATCGCCGCCACCACCACCACCACCAT CACCACCACCACCACCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
NAA35_chr9_85936146_86030462	85969270	C C	CAAAAAAA others(291): Show CAAAAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TTCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02818.hp1 HG02647.hp2 HG02818.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0013 a0002c0004t0002 a0002c0004t0013	a0002c0004t0002g0019 a0002c0004t0013g0018 a0002c0004t0002g0019 a0002c0004t0013g0018	2	138	0.0145	298	c.517 others(315): Show c.517-5683_517-5682insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATTCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAA	NAA35	ENSG00000135040.16	transcript	ENST00000361671.10	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr9	TogoVar
NACC2_chr9_136001537_136100289	136023108	G G	GGAGGGAG others(291): Show GGAGGGAGGGAAGAGGGAGGGAGGAGGGAGGGAAGAGAGAGGGAGGGAAG GAGGGAAGAGGAAGGAGGGAGGGAGGAGGGAGGGAGGAGGGACGGAGGAG GGAGGCAGGAGGGCGGGAGGAGGGAGGCAGGAGGGCGGGAGGAGGGAGGG AGGAGGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGGA GGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGGAGGAGGAAGGAGG AGAGAGGAGGGAGGGAGGAGGGGGGGAAGGAGGAGGGAGGGGGAGGGAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0050 a0001c0037t0050	a0001c0037t0050g0047 a0001c0037t0050g0047	1	7	0.1429	298	c.887 others(315): Show c.887-6680_887-6679insGTCCCTCCCCCTCCCTCCTCCTTCCCCC CCTCCTCCCTCCCTCCTCTCTCCTCCTTCCTCCTCCCTCCCTCCTCTCTC CTCCCTCCTCCTCCCTCCTCCTCCCTCCCTCCTCTCTCCTCCCTCCTCCT CCCTCCTCCCTCCTCCCTCCTCCCTCCCTCCTCCCGCCCTCCTGCCTCCC TCCTCCCGCCCTCCTGCCTCCCTCCTCCGTCCCTCCTCCCTCCCTCCTCC CTCCCTCCTTCCTCTTCCCTCCTTCCCTCCCTCTCTCTTCCCTCCCTCCT CCCTCCCTCTTCCCTCCCTC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5			chr9	TogoVar
NACC2_chr9_136001537_136100289	136023108	G G	GGAGGGAG others(291): Show GGAGGGAGGGAAGAGGGAGGGAGGAGGGAGGGAAGAGAGAGGGAGGGAAG GAGGGAAGAGGAAGGAGGGAGGGAGGAGGGAGGGAGGAGGGACGGAGGAG GGAGGCAGGAGGGCGGGAGGAGGGAGGCAGGAGGGCGGGAGGAGGGAGGG AGGAGGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGGA GGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGGAGGAGGAAGGAGG AGAGAGGAGGGAGGGAGGAGGGGGGGAGGGAGGAGGGAGGGGGAGGGAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02809.hp2 HG02896.hp2 others(3): Show HG02451.hp2 HG02809.hp2 HG02896.hp2 HG03098.hp1 HG03225.hp2 NA18906.hp1	a0001 a0001	a0001c0008 a0001c0027 a0001c0008 a0001c0027	a0001c0008t0019 a0001c0008t0020 a0001c0008t0027 others(2): Show a0001c0008t0019 a0001c0008t0020 a0001c0008t0027 a0001c0008t0048 a0001c0027t0027	a0001c0008t0019g0046 a0001c0008t0019g0093 a0001c0008t0020g0048 others(3): Show a0001c0008t0019g0046 a0001c0008t0019g0093 a0001c0008t0020g0048 a0001c0008t0027g0005 a0001c0008t0048g0245 a0001c0027t0027g0253	6	12	0.5000	298	c.887 others(315): Show c.887-6680_887-6679insGTCCCTCCCCCTCCCTCCTCCCTCCCCC CCTCCTCCCTCCCTCCTCTCTCCTCCTTCCTCCTCCCTCCCTCCTCTCTC CTCCCTCCTCCTCCCTCCTCCTCCCTCCCTCCTCTCTCCTCCCTCCTCCT CCCTCCTCCCTCCTCCCTCCTCCCTCCCTCCTCCCGCCCTCCTGCCTCCC TCCTCCCGCCCTCCTGCCTCCCTCCTCCGTCCCTCCTCCCTCCCTCCTCC CTCCCTCCTTCCTCTTCCCTCCTTCCCTCCCTCTCTCTTCCCTCCCTCCT CCCTCCCTCTTCCCTCCCTC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5			chr9	TogoVar
NACC2_chr9_136001537_136100289	136023108	G G	GGAGGGAG others(291): Show GGAGGGAGGGAAGGAGGGAAGAGGGAGGGAGGAGGGAGGGAAGAGGGAGG GAGGGAAGGAGGGAAGAGGAAGGAGGGAGGGAGGAGGGAGGGAGGAGGGA CGGAGGAGGGAGGAGGGAGGCAGGAGGGCGGGAGGAGGGAGGGAGGAGGG AGGAGGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGGA GGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGGAGGAGGAAGGAGG AGAGAGGAGGGAGGGAGGAGGGGGGGAGGGAGGAGGGAGGGGGAGGGAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0014 a0001c0024t0014	a0001c0024t0014g0044 a0001c0024t0014g0044	1	7	0.1429	298	c.887 others(315): Show c.887-6680_887-6679insGTCCCTCCCCCTCCCTCCTCCCTCCCCC CCTCCTCCCTCCCTCCTCTCTCCTCCTTCCTCCTCCCTCCCTCCTCTCTC CTCCCTCCTCCTCCCTCCTCCTCCCTCCCTCCTCTCTCCTCCCTCCTCCT CCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCCTCCTCCCGCCCTCCT GCCTCCCTCCTCCCTCCTCCGTCCCTCCTCCCTCCCTCCTCCCTCCCTCC TTCCTCTTCCCTCCTTCCCTCCCTCCCTCTTCCCTCCCTCCTCCCTCCCT CTTCCCTCCTTCCCTCCCTC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5			chr9	TogoVar
NDUFC1_chr4_139284931_139307477	139289132	C C	CAAAAAAA others(291): Show CAAAAAAAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCG AGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG03579.hp1 HG04199.hp1 others(2): Show HG02145.hp1 HG03579.hp1 HG04199.hp1 NA18941.hp1 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0150 a0001c0001t0002g0008 a0001c0001t0002g0028 others(2): Show a0001c0001t0001g0150 a0001c0001t0002g0008 a0001c0001t0002g0028 a0001c0001t0002g0078 a0001c0001t0002g0083	5	197	0.0254	298	c.98 others(307): Show c.980_*981insTGAGACGGAGTCTCGCTGTCGCCCAGGCTGGAGTGC AGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCCCCCTGGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCAC CTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTG TTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGC CTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTTTT TTTTTTTTTTTT	NDUFC1	ENSG00000109390.13	transcript	ENST00000394223.2	protein_coding		798		chr4	TogoVar
NDUFC1_chr4_139284931_139307477	139289132	C C	CAAAAAAA others(291): Show CAAAAAAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGA GATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01981.hp1 HG04204.hp1 others(1): Show HG01256.hp2 HG01981.hp1 HG04204.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0027 others(1): Show a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0002g0050	4	196	0.0204	298	c.98 others(307): Show c.980_*981insTTGAGACGGAGTCTCGCTGTCGCCCAGGCTGGAGTG CAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCCCCCTGGGGTTCACGC CATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCA CCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGT GTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGG CCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTTT TTTTTTTTTTTT	NDUFC1	ENSG00000109390.13	transcript	ENST00000394223.2	protein_coding		798		chr4	TogoVar
NDUFC1_chr4_139284931_139307477	139289132	C C	CAAAAAAA others(291): Show CAAAAAAAAAAAAAAAAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCG AGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	193	0.0052	298	c.98 others(307): Show c.980_*981insTGAGACGGAGTCTCGCTGTCGCCCAGGCTGGAGTGC AGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCCCCCTGGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCAC CTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTG TTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGC CTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTTT TTTTTTTTTTTT	NDUFC1	ENSG00000109390.13	transcript	ENST00000394223.2	protein_coding		798		chr4	TogoVar
NEK7_chr1_198151998_198327420	198274158	T T	TTCTAGTT others(291): Show TTCTAGTTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATG GTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA19060.hp2 NA18967.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0304 a0001c0001t0001g0324 a0001c0001t0001g0304 a0001c0001t0001g0324	2	254	0.0079	298	c.373 others(315): Show c.373-3791_373-3790insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAG TGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCAC GCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTA GCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTC CCAAAGTGTCTAGTTCTCTT	NEK7	ENSG00000151414.15	transcript	ENST00000367385.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFILZ_chr19_8625633_8686151	8656482	C C	CAGCGCAC others(291): Show CAGCGCACCTCCTCCCTGAAGCCCCCTTCTTCCTGAAGCCCACCTCTTCC CTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTGCAGCCCACCTTC TCTCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTGCAGCCCACC TTCTCTCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTGCAGCCC ACCTTCTCCCGCAGCCCACCTTCTCTCTGAAACCCACCTCTTTCCGCAGC CCACCTTCTCCTGCAGCCCACCTTCTCCTGAAGCCCACCTTCTCCCTGA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18966.hp2 NA19004.hp1 others(2): Show NA18747.hp2 NA18966.hp2 NA19004.hp1 NA19074.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0337 others(2): Show a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0337 a0001c0001t0001g0354 a0001c0001t0016g0249	5	124	0.0403	298	c.-16 others(319): Show c.-163-18066_-163-18065insGCACCTCCTCCCTGAAGCCCCCTT CTTCCTGAAGCCCACCTCTTCCCTGAAGCCCACCTCTTCCCTGAAGCCCA CCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTCTTCCCTGAAGC CCACCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTCTTCCCTGA AGCCCACCTTCTCCTGCAGCCCACCTTCTCCCGCAGCCCACCTTCTCTCT GAAACCCACCTCTTTCCGCAGCCCACCTTCTCCTGCAGCCCACCTTCTCC TGAAGCCCACCTTCTCCCTGAAGC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8656482	C C	CAGCGCAC others(291): Show CAGCGCACCTCCTCCCTGAAGCCCCCTTCTTCCTGAAGCCCACCTCTTCC CTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTGCAGCCCACCTTC TCTCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTGCAGCCCACC TTCTCTCTGAAGCCCACCTTCTCCCGCAGCCCACCTTCTCTCTGAAACCC ACCTCTTTCCGCAGCCCACCTTCTCCTGCAGCCCACCTTCTCTCTGAAGC CCACCTCTTCCCTGAAGCCCACCTTCTCCTGCAGCCCACCTTCTCCTGA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0336 a0001c0001t0011g0336	1	120	0.0083	298	c.-16 others(319): Show c.-163-18066_-163-18065insGCACCTCCTCCCTGAAGCCCCCTT CTTCCTGAAGCCCACCTCTTCCCTGAAGCCCACCTCTTCCCTGAAGCCCA CCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTCTTCCCTGAAGC CCACCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTTCTCCCGCA GCCCACCTTCTCTCTGAAACCCACCTCTTTCCGCAGCCCACCTTCTCCTG CAGCCCACCTTCTCTCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTC CTGCAGCCCACCTTCTCCTGAAGC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NGEF_chr2_232873701_233018256	232995389	C C	CTGCATAC others(291): Show CTGCATACAGTATGTATACTGTATACATACTGCATGCAGTATGTATACTG TATACATACTGCATGCAGTATGTATACTGTATATATACACTATACAGTAT GTATACTGTATATATACACTATACAGTATGTATACTGTATATATACACAA TACAGTATGTATACTGTATATATACACAATACAGTATGTATACTGTATAT ATACACAATACAGTATGTATACTGTATATATACACAATACAGTATGTATA CTGTATATATACACAATACAGTATGTATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0006 a0002c0006t0006	a0002c0006t0006g0137 a0002c0006t0006g0137	1	105	0.0095	298	c.-75 others(317): Show c.-75+17678_-75+17679insTACTGTGTGTATATATACAGTATACA TACTGTATTGTGTATATATACAGTATACATACTGTATTGTGTATATATAC AGTATACATACTGTATTGTGTATATATACAGTATACATACTGTATTGTGT ATATATACAGTATACATACTGTATTGTGTATATATACAGTATACATACTG TATAGTGTATATATACAGTATACATACTGTATAGTGTATATATACAGTAT ACATACTGCATGCAGTATGTATACAGTATACATACTGCATGCAGTATGTA TACAGTATACATACTGTATGCA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NME4_chr16_392199_405754	397709	T T	TGGGGGGG others(291): Show TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGG GTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	299	0.0033	298	c.91+ others(311): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOC4L_chr12_132139457_132157468	132150059	C C	CCACACCC others(291): Show CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACAC CCGTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCT CGGTGAGTGCGGCCGCCTCGCTCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCC TCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	292	0.0034	298	c.902 others(313): Show c.902-871_902-870insGTAATCCCCTCGGTGAGTGCCGCCGCCTCA CTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACA CCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCC TCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCACACCACACCC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150232	A A	ATACCACA others(291): Show ATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCGGCCGCCTCACTCCTACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTC GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCC	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	255	0.0039	298	c.902 others(313): Show c.902-749_902-748insTACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCGCTCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGC TCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCCTAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGA GTGCGGCCGCCTCACTCC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
NOP14_chr4_2932936_2968406	2961219	T T	TTAATATA others(291): Show TTAATATATTAATAATATAGTATATTAATATATAGTAACTATATTAATAT ATAGTAACTATATTAATATAGTTAGTATATATTAATATATAGTAACTATA TTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATA GTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATT AATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTA ACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02647.hp2 HG02572.hp2 HG02647.hp2	a0006 a0006	a0006c0015 a0006c0017 a0006c0015 a0006c0017	a0006c0015t0007 a0006c0017t0001 a0006c0015t0007 a0006c0017t0001	a0006c0015t0007g0255 a0006c0017t0001g0301 a0006c0015t0007g0255 a0006c0017t0001g0301	2	277	0.0072	298	c.195 others(315): Show c.195+1905_195+1906insTTAATATAGTTACTATATATTAATATAC TAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATATTA TTAATATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTT ACTATATATTAATATACTAACTATATTATTAATATAGTTACTATATATTA ATATACTAACTATATTATTAATATAGTTACTATATATTAATATATACTAA CTATATTAATATAGTTACTATATATTAATATAGTTACTATATATTAATAT ACTATATTATTAATATATTA	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar
NOTCH1_chr9_136489433_136551048	136535719	G G	GGTGGAGG others(291): Show GGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGG GTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGAGCAATGGGTGCA GGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0210 a0001c0001t0003g0210	1	302	0.0033	298	c.140 others(315): Show c.140+8304_140+8305insTGCACCCATTGCCCCGGGAGGGATCCTG AGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTG AGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTG AGTGCTCCCCCCGACCCACCCTGCACCCATTGCTCCTGGGAGGGATCCTG AGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCGGGAGGGATCCT GAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATC CTGAGTGCTCCCCCCTCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NR3C2_chr4_148073764_148447414	148366436	T T	TTTTTAAA others(291): Show TTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAA AAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAA GTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATAC TTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAA AAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAG TACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02976.hp2 HG02109.hp2 HG02976.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0010 a0004c0005t0004 a0001c0001t0010 a0004c0005t0004	a0001c0001t0010g0023 a0004c0005t0004g0016 a0001c0001t0010g0023 a0004c0005t0004g0016	2	163	0.0123	298	c.175 others(319): Show c.1757+68667_1757+68668insGTATTCTTTTTTAAAAGTACTTTT TAAAAAGTATTCTTTTTTAAAAGTACTTTTAAAAAGTATTCTTTTTTAAA AGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATT CTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTT AAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAA AGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATT CTTTTTTAAAAGTACTTTTTAAAA	NR3C2	ENSG00000151623.15	transcript	ENST00000358102.8	protein_coding	2/8			chr4	TogoVar
NR3C2_chr4_148073764_148447414	148366441	T T	TAAAAGTA others(291): Show TAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAG AATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACT TTTAAAAAAGAATACTTTTTAAAAAGTACTTTTTAAAAAGAATACTTTTT AAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAG AATACTTTTTAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAGTACTTT TAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0066 a0001c0003t0005g0066	1	8	0.1250	298	c.175 others(319): Show c.1757+68662_1757+68663insTAAAAAGTATTCTTTTTTAAAAGT ACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTAAAAAGTATTCTTT TTTAAAAGTACTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAA GTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTAAAAAGTAC TTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTT TTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAA GTATTCTTTTTTAAAAGTACTTTT	NR3C2	ENSG00000151623.15	transcript	ENST00000358102.8	protein_coding	2/8			chr4	TogoVar
NRIP1_chr21_14956235_15070000	15031103	C C	CACATTCC others(291): Show CACATTCCCTTTCTATGTGTATACACTCTGGAAGGCGCTCGGAGGATCAC CACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCGCTCGGAGGATCAC CACATTCCCTTTCTATGTGTATACACTCTGGAAGGCGCTCGGAGGATCAC CACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCACTCAGAGGATCAC CACATTCCCTTTCTATGTGTATACACTCTGGAAGGTGTTCAGAGGTTCAC CACATTCCCTTTCTATGTGTATACTCTGGAAGGCGGTTGGAGGTTCACT	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA19074.hp2 HG02071.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0343 a0001c0002t0002g0346 a0001c0001t0001g0343 a0001c0002t0002g0346	2	167	0.0120	298	c.-45 others(319): Show c.-458+12391_-458+12392insAGTGAACCTCCAACCGCCTTCCAG AGTATACACATAGAAAGGGAATGTGGTGAACCTCTGAACACCTTCCAGAG TGTATACACATAGAAAGGGAATGTGGTGATCCTCTGAGTGCCTTCCAGAG TGTACACACATAGAAAGGGAATGTGGTGATCCTCCGAGCGCCTTCCAGAG TGTATACACATAGAAAGGGAATGTGGTGATCCTCCGAGCGCCTTCCAGAG TGTACACACATAGAAAGGGAATGTGGTGATCCTCCGAGCGCCTTCCAGAG TGTATACACATAGAAAGGGAATGT	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TCCTCCTC others(291): Show TCCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTC CTCTCCTCTCCTCTCCTCTCCTCTCCTCCTCTCCTCTCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCCCCCTCCCCCTCCCCCCCCTCCCCCT CCCCTCCCCCCCCCCCTCCCCCTCCCCTCCCCCTCCCCCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCTTCCCTCTCCCCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0098 a0001c0002t0005g0098	1	206	0.0049	298	c.433 others(315): Show c.433+1028_433+1029insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGGGGAGGGGGAGGGGAG GGGGAGGGGGGGGGGGAGGGGAGGGGGAGGGGGGGGAGGGGGAGGGGGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGAGAGGAGAGGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NTM_chr11_131365615_132341822	131680872	T T	TGTGCGTC others(291): Show TGTGCGTCTGTGTAGGCATGTGTGCCTCTGTGTCTGTGTGTGAGATCATG CCTGTGTCTGTGTCTGTGAGTGCCTGTGTGTGTGTGCGTCTGTGTAGGCA TGTGTGCCTCTGTGTCTGTGTGTGAGATCATGCCTGTGTCTGTGTCTGTG AGTGCCTGTGTGTGTGTGTGTCTGTGTAGGCATGTGTGCCTCTGTGTCTG TGTGTGTGAGATCATGCCTATGTCTATGTGAGTGCCTGTGTGTGTGTGTG TGTGTCTGTGTAGGCATGTGTGCCTCTGTGTCTGTGTGTGAGATCATGC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01081.hp1 HG01169.hp1 others(15): Show HG01071.hp1 HG01081.hp1 HG01169.hp1 HG01255.hp2 HG02145.hp2 HG02258.hp2 HG02280.hp2 HG02602.hp1 HG02615.hp1 HG02735.hp1 HG02809.hp2 HG03098.hp2 HG03130.hp2 HG03239.hp1 HG03239.hp2 HG04184.hp1 NA19043.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0002t0001 a0001c0002t0003	a0001c0001t0001g0024 a0001c0001t0001g0036 a0001c0001t0001g0037 others(15): Show a0001c0001t0001g0024 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0074 a0001c0001t0002g0040 a0001c0001t0003g0051 a0001c0001t0004g0009 a0001c0001t0004g0014 a0001c0001t0004g0072 a0001c0001t0005g0001 a0001c0001t0005g0082 a0001c0001t0008g0045 a0001c0001t0009g0015 a0001c0001t0014g0080 a0001c0002t0001g0010 a0001c0002t0003g0041	18	84	0.2143	298	c.83- others(317): Show c.83-230692_83-230691insGTGCGTCTGTGTAGGCATGTGTGCCT CTGTGTCTGTGTGTGAGATCATGCCTGTGTCTGTGTCTGTGAGTGCCTGT GTGTGTGTGCGTCTGTGTAGGCATGTGTGCCTCTGTGTCTGTGTGTGAGA TCATGCCTGTGTCTGTGTCTGTGAGTGCCTGTGTGTGTGTGTGTCTGTGT AGGCATGTGTGCCTCTGTGTCTGTGTGTGTGAGATCATGCCTATGTCTAT GTGAGTGCCTGTGTGTGTGTGTGTGTGTCTGTGTAGGCATGTGTGCCTCT GTGTCTGTGTGTGAGATCATGC	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8			chr11	TogoVar
NTSR1_chr20_62703836_62767771	62755580	T T	TCCATCCT others(291): Show TCCATCCTCCCTCCCTCCATCATCCCTCCCTCCCTCCATCCCTCATTCCA TCCCTCCCTCCCTCCCTCCATCCCTCCCTTCATCTATCCTCCCTCCCTCC CTCCCTCCATCCCTCATTCCATCCCTCCCTCTCTCCCTCCCTCCATCCAT CCTCCCTCCCTCCATCACTCCCTCCCTCCATCCATCCTCCCTCCATCCAT CATCCCTCCCTCCCTCCATCCCTCATTCCATCCCTCCCTCCCTCCCTCCA TCCATCATCCCTCCCTCCCTCCATCCCTCATTCCATCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01993.hp1 NA20300.hp2 HG01952.hp2 HG01993.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0064 a0001c0001t0001g0242 a0001c0001t0007g0161 a0001c0001t0001g0064 a0001c0001t0001g0242 a0001c0001t0007g0161	3	86	0.0349	298	c.916 others(313): Show c.916+696_916+697insATCCTCCCTCCCTCCATCATCCCTCCCTCC CTCCATCCCTCATTCCATCCCTCCCTCCCTCCCTCCATCCCTCCCTTCAT CTATCCTCCCTCCCTCCCTCCCTCCATCCCTCATTCCATCCCTCCCTCTC TCCCTCCCTCCATCCATCCTCCCTCCCTCCATCACTCCCTCCCTCCATCC ATCCTCCCTCCATCCATCATCCCTCCCTCCCTCCATCCCTCATTCCATCC CTCCCTCCCTCCCTCCATCCATCATCCCTCCCTCCCTCCATCCCTCATTC CATCCCTCCCTCCCTCCC	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(291): Show CTCCATCATCCCTCCCTCCCTCCATCCCTCATTCCATCCCTCCCTCCCTC CCTCCATCCCTCCCTTCATCTATCCTCCCTCCCTCCCTCCCTCCATCCCT CATTCCATCCCTCCCTCTCTCCCTCCCTCCATCCATCCTCCCTCCCTCCA TCACTCCCTCCCTCCATCCATCCTCCCTCCCTCCATCCATCATCCCTCCC TCCCTCCATCCCTCATTCCATCCCTCCCTCCCTCCCTCCATCCATCATCC CTCCCTCCCTCCATCCCTCATTCCATCCCTCCCTCCCTCCCTCCCTCCA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0103 a0001c0001t0003g0103	1	4	0.2500	298	c.916 others(313): Show c.916+764_916+765insCCCTTCATCTATCCTCCCTCCCTCCCTCCC TCCATCCCTCATTCCATCCCTCCCTCTCTCCCTCCCTCCATCCATCCTCC CTCCCTCCATCACTCCCTCCCTCCATCCATCCTCCCTCCCTCCATCCATC ATCCCTCCCTCCCTCCATCCCTCATTCCATCCCTCCCTCCCTCCCTCCAT CCATCATCCCTCCCTCCCTCCATCCCTCATTCCATCCCTCCCTCCCTCCC TCCCTCCATCCATCATCCCTCCCTCCCTCCATCCCTCATTCCATCCCTCC CTCCCTCCCTCCATCCCT	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(291): Show TCATTTAAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTC GGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	313	0.0032	298	c.-30 others(309): Show c.-3059_-3058insCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACG AGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGG AGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAACTTTAAATG	NUDCD1	ENSG00000120526.12	transcript	ENST00000239690.9	protein_coding		2982		chr8	TogoVar
NUP93_chr16_56725129_56855286	56808192	A A	ATAACTAT others(291): Show ATAACTATATAAAATATATAGTTATATAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT GTAACTATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATG	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0277 a0001c0003t0002g0277	1	314	0.0032	298	c.489 others(315): Show c.489+2584_489+2585insATAACTATATAAAATATATAGTTATGTA ACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTA ACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTA ACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTA ACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTA ACTATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAAC TATATAAAATATATAGTTAT	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808192	A A	ATAACTAT others(291): Show ATAACTATATAAAATATATAGTTATATAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATGTAACTATAAAATATATAGTTATG	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0270 a0001c0003t0002g0270	1	314	0.0032	298	c.489 others(315): Show c.489+2584_489+2585insATAACTATATAAAATATATAGTTATGTA ACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTA ACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTA ACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTA ACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTA ACTATATAAAATATATAGTTATGTAACTATAAAATATATAGTTATGTAAC TATATAAAATATATAGTTAT	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NXN_chr17_794310_984776	810035	G G	GTATGAGC others(291): Show GTATGAGCGGCGGGCACCTTACGAGTCCGTGTGAGCGGCGGGCACGTTAC GAGCCAGTGTGAGTGGCGTGTACGTTACGAGTCTGTGAGCGGCGTGCACG TTACGAGTCTGTGAGTGGCGTGCACGTTAAGAGTCCGTGTGAGTGGCGTG CACGTTACGAGTCCCTGTGAGTGGCGTGCACGTTACGAGTCTGTGAGTGG CGTGCACGTTACGAGTCTGTGAGTGGCGTGCACGTTAAGAGTCCGTGTGA GTGGCGTGCACGTTACGAGTCCGTGTGAGTGGCGTGCACGTTACGAGTC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0202 a0001c0001t0006g0202	1	233	0.0043	298	c.821 others(315): Show c.821-4789_821-4788insGACTCGTAACGTGCACGCCACTCACACG GACTCGTAACGTGCACGCCACTCACACGGACTCTTAACGTGCACGCCACT CACAGACTCGTAACGTGCACGCCACTCACAGACTCGTAACGTGCACGCCA CTCACAGGGACTCGTAACGTGCACGCCACTCACACGGACTCTTAACGTGC ACGCCACTCACAGACTCGTAACGTGCACGCCGCTCACAGACTCGTAACGT ACACGCCACTCACACTGGCTCGTAACGTGCCCGCCGCTCACACGGACTCG TAAGGTGCCCGCCGCTCATA	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	5/7			chr17	TogoVar
NXN_chr17_794310_984776	918938	G G	GCCTGTAG others(291): Show GCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGGATCACTTGAGG CCAGGAGTTTGAGGCTGCAGTGAGCTATGATTGCACCACTGCACTCCAGC CTGGGCAACAGGGTAAGACCCTATCGCTTTAAAAAAAAAAAATGTTTCAG CCAGGCTCGGTGGCTCACACCTGTGATCCCAGCACTTTGGGAGGCTGAGG GTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAA GCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTCATGGCGGGCA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0143 a0001c0001t0003g0143	1	236	0.0042	298	c.360 others(317): Show c.360+60380_360+60381insTGCCCGCCATGACGCCCGGCTAATTT TTGTATTTTTAGTAGAGACGGGCTTTCACCATGTTAGCCAGGATGGTCTC GATCTCCTGACCTCGTGATCCACCCTCAGCCTCCCAAAGTGCTGGGATCA CAGGTGTGAGCCACCGAGCCTGGCTGAAACATTTTTTTTTTTTAAAGCGA TAGGGTCTTACCCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCATAGC TCACTGCAGCCTCAAACTCCTGGCCTCAAGTGATCCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OBI1_chr13_78609289_78664155	78659327	A A	AGAAAGAA others(291): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAAGAAAGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG GGAGGGAGGGAGGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0207 a0001c0001t0002g0207	1	240	0.0042	298	c.-20 others(307): Show c.-208_-207insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCTTTCTT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTC	OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding		173		chr13	TogoVar
OPHN1_chrX_68037344_68438495	68326741	G G	GCCCCCCG others(291): Show GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCTCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGCGGGGGGGGGGGGGGTCGGCCAGCCGCCCCGGCC GGGAGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAA CCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGGTCAGC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0138 a0001c0001t0005g0138	1	26	0.0385	298	c.155 others(317): Show c.155-27646_155-27645insGCTGACCCCCCACCTCCCTCCCGGAC TGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTGGACG GGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCCCCCC CCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGG	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
PAK1_chr11_77317017_77479094	77332351	A A	AGGGAAGG others(291): Show AGGGAAGGGAAGGGGAGGGGAGGGGAGGGGGGAGGGGGGAGGGGGGAGGG GAGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGG GGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGG GAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGG GGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGG GAGGGGAGGGGAGGGGGAGGGGAGGGGAAGGAAGGGAAGGGAAGGGAAG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01243.hp2 HG01346.hp1 others(12): Show HG01168.hp1 HG01243.hp2 HG01346.hp1 HG01943.hp1 HG01981.hp2 HG02129.hp2 NA18612.hp1 NA18965.hp1 NA18970.hp1 NA18975.hp2 NA18984.hp1 NA18992.hp2 NA19054.hp2 NA19078.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0022 a0001c0001t0001g0109 a0001c0001t0001g0114 others(12): Show a0001c0001t0001g0022 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0122 a0001c0001t0001g0144 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0002g0176	15	76	0.1974	298	c.155 others(315): Show c.1551+378_1551+379insCTTCCCTTCCCTTCCCTTCCTTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCC CCCTCCCTCCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCC CTCCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCTCCCC CTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCC TCCCCTCCCCTTCCCTTCCC	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14			chr11	TogoVar

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