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
MUSK_chr9_110663791_110811558	110808955	T T	TCTGACTT others(308): Show TCTGACTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCT CCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGAAGCT GGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0025 a0001c0016t0025	a0001c0016t0025g0181 a0001c0016t0025g0181	1	326	0.0031	315	c.79 others(326): Show c.7967_*7968insCTGACTTTCTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTC GGCTCACTGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGAAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCC	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding		2398		chr9	TogoVar
MYO1D_chr17_32487522_32882124	32566830	T T	TTTAAGCT others(308): Show TTTAAGCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCG CTCTGTCGCCCAGGCTGGAGCGCAGTGGCGCGATCTCGACTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTGTCAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0187 a0001c0001t0020g0187	1	244	0.0041	315	c.286 others(336): Show c.2864+38256_2864+38257insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTGACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAATTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGTCGAGATCGCGCCACTGCGCTCCAGCCTGGGCGACAGAGCGAAACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGCTTAA	MYO1D	ENSG00000176658.17	transcript	ENST00000318217.10	protein_coding	21/21			chr17	TogoVar
MYO1D_chr17_32487522_32882124	32566830	T T	TTTAAGCT others(308): Show TTTAAGCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCG CTCTGTCGCCCAGGCTGGAGCGCAGTGGCGCGATCTCGACTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTGTCAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCTGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA18906.hp2 HG03579.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0113 a0002c0002t0003g0027 a0001c0001t0001g0113 a0002c0002t0003g0027	2	244	0.0082	315	c.286 others(336): Show c.2864+38256_2864+38257insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGACGGGCAGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTGACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAATTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGTCGAGATCGCGCCACTGCGCTCCAGCCTGGGCGACAGAGCGAAACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGCTTAA	MYO1D	ENSG00000176658.17	transcript	ENST00000318217.10	protein_coding	21/21			chr17	TogoVar
MYO1D_chr17_32487522_32882124	32566830	T T	TTTAAGCT others(308): Show TTTAAGCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCG CTCTGTCGCCCAGGCTGGAGCGCAGTGGCGCGATCTCGACTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCGCGCCACCATGTCCGGCTAATTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTGTCAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	244	0.0041	315	c.286 others(336): Show c.2864+38256_2864+38257insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTGACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAATTAGCCGGACATGGTGGCGCGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGTCGAGATCGCGCCACTGCGCTCCAGCCTGGGCGACAGAGCGAAACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGCTTAA	MYO1D	ENSG00000176658.17	transcript	ENST00000318217.10	protein_coding	21/21			chr17	TogoVar
MYO1D_chr17_32487522_32882124	32780504	T T	TTTGGATT others(308): Show TTTGGATTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGT TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02630.hp1 HG03225.hp2 others(2): Show HG02109.hp1 HG02630.hp1 HG03225.hp2 NA19043.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0002 a0001c0001t0003 a0001c0001t0035 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0035 a0001c0014t0003	a0001c0001t0002g0128 a0001c0001t0003g0030 a0001c0001t0003g0126 others(2): Show a0001c0001t0002g0128 a0001c0001t0003g0030 a0001c0001t0003g0126 a0001c0001t0035g0163 a0001c0014t0003g0119	5	244	0.0205	315	c.304 others(328): Show c.304+71_304+72insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCGCGCCACTGCACTCCAGCCTGGGCGACAGAACGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAGAATCCAA	MYO1D	ENSG00000176658.17	transcript	ENST00000318217.10	protein_coding	2/21			chr17	TogoVar
MYO1F_chr19_8515778_8582442	8543678	G G	GTGGTGGT others(308): Show GTGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGGTGCTGGTGGTGGTGCT GGTGGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGGTGCTGGTGG TGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTG GTGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GCTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGG TGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTG GTGGTGCTGGTGGTGC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0212 a0001c0018t0001g0212	1	342	0.0029	315	c.152 others(332): Show c.1524+618_1524+619insGCACCACCAGCACCACCACCACCACCAG CACCACCACCACCACCACCACCACCATCACCATCACCACCACCATCACCA CCACCACCACCACCACCACCACCACCAGCACCACCAGCACCACCACCACC ACCACCACCACCACCACCAGCACCACCAGCACCACCACCACCACCACCAC CACCAGCACCACCACCACCACCACCACCACCACCAGCACCACCAGCACCA CCACCACCACCAGCACCACCAGCACCACCACCACCACCAGCACCACCACC AGCACCACCACCACCACCAGCACCACCAGCACCACCA	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27			chr19	TogoVar
MYOZ2_chr4_119130832_119192789	119150496	T T	TAAAAATG others(308): Show TAAAAATGTGGGGAGCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA19064.hp2 HG00408.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0171 a0001c0001t0003g0172	2	394	0.0051	315	c.77- others(328): Show c.77-360_77-359insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAATGTGGGGAGCA	MYOZ2	ENSG00000172399.6	transcript	ENST00000307128.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
NACC2_chr9_136001537_136100289	136023108	G G	GGAGGGAG others(308): Show GGAGGGAGGGAAGAGGGAGGGAGGAAGGAGGGAAGAGGGAGGGAGGGAAG GAGGGAAGAGGAAGGAGGGAGGGAGGAGGGAGGGAGGAGGGACGGAGGAG GGAGGAGGGAGGGAGGAGGGAGGCAGGAGGGCGGGAGGAGGGAGGGAGGA GGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAG GGAGGAGGAGGGAGGAGAGAGGAGGGAGGGAGGAGGGAGGGAGGAGGAAG GAGGAGAGAGGAGGGAGGGAGGAGGGGGGAGGGAGGAGGGGGGAGGGAGG AGGGAGGGGGAGGGAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01069.hp2 HG01071.hp1 others(11): Show HG00621.hp1 HG01069.hp2 HG01071.hp1 HG01516.hp1 HG02129.hp2 HG03834.hp1 NA18954.hp2 NA18960.hp2 NA18984.hp2 NA18994.hp2 NA19066.hp2 NA20300.hp2 NA20805.hp1 NA20805.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0001c0010 a0004c0031 a0001c0003 a0001c0010 a0004c0031	a0001c0003t0001 a0001c0003t0005 a0001c0003t0036 others(4): Show a0001c0003t0001 a0001c0003t0005 a0001c0003t0036 a0001c0003t0091 a0001c0003t0092 a0001c0010t0005 a0004c0031t0001	a0001c0003t0001g0316 a0001c0003t0005g0064 a0001c0003t0005g0133 others(10): Show a0001c0003t0001g0316 a0001c0003t0005g0064 a0001c0003t0005g0133 a0001c0003t0005g0191 a0001c0003t0005g0213 a0001c0003t0005g0214 a0001c0003t0005g0240 a0001c0003t0005g0334 a0001c0003t0036g0001 a0001c0003t0091g0218 a0001c0003t0092g0081 a0001c0010t0005g0022 a0004c0031t0001g0305	14	348	0.0402	315	c.887 others(332): Show c.887-6680_887-6679insGTCCCTCCCCCTCCCTCCTCCCTCCCCC CTCCTCCCTCCCCCCTCCTCCCTCCCTCCTCTCTCCTCCTTCCTCCTCCC TCCCTCCTCCCTCCCTCCTCTCTCCTCCCTCCTCCTCCCTCCCTCCTCTC TCCTCCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCCT CCTCCCGCCCTCCTGCCTCCCTCCTCCCTCCCTCCTCCCTCCTCCGTCCC TCCTCCCTCCCTCCTCCCTCCCTCCTTCCTCTTCCCTCCTTCCCTCCCTC CCTCTTCCCTCCTTCCTCCCTCCCTCTTCCCTCCCTC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5			chr9	TogoVar
NACC2_chr9_136001537_136100289	136023108	G G	GGAGGGAG others(308): Show GGAGGGAGGGAAGAGGGAGGGAGGAAGGAGGGAAGAGGGAGGGAGGGAAG GAGGGAAGAGGAAGGAGGGAGGGAGGAGGGAGGGAGGAGGGACGGAGGAG GGAGGAGGGAGGGAGGAGGGAGGCAGGAGGGCGGGAGGAGGGAGGGAGGA GGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGGGAGGAGGGAG GGAGGAGGAGGGAGGAGAGAGGAGGGAGGGAGGAGGGAGGGAGGAGGAAG GAGGAGAGAGGAGGGAGGGAGGAGGGGGGAGGGAGGAGGGGGGAGGGAGG AGGGAGGGGGAGGGAC	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0216 a0001c0003t0005g0216	1	348	0.0029	315	c.887 others(332): Show c.887-6680_887-6679insGTCCCTCCCCCTCCCTCCTCCCTCCCCC CTCCTCCCTCCCCCCTCCTCCCTCCCTCCTCTCTCCTCCTTCCTCCTCCC TCCCTCCTCCCTCCCTCCTCTCTCCTCCCTCCTCCTCCCTCCCTCCTCCC TCCTCCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCCT CCTCCCGCCCTCCTGCCTCCCTCCTCCCTCCCTCCTCCCTCCTCCGTCCC TCCTCCCTCCCTCCTCCCTCCCTCCTTCCTCTTCCCTCCTTCCCTCCCTC CCTCTTCCCTCCTTCCTCCCTCCCTCTTCCCTCCCTC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5			chr9	TogoVar
NAE1_chr16_66797878_66835976	66805483	T T	TGAAAAAT others(308): Show TGAAAAATTAGCCAGGCTGCTGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGCGATCAAGAC CATCCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAG CCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCTGAGATC GCGCCACTGCACTCCAGCCTGGGCAACACAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04228.hp2 NA20905.hp2 HG04228.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0211 a0001c0001t0001g0127 a0001c0001t0001g0211	2	376	0.0053	315	c.149 others(332): Show c.1495+293_1495+294insTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTTTTTTGTATT TTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCGCC TGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCAGCAGCCTGGCTAATTTTTC	NAE1	ENSG00000159593.15	transcript	ENST00000290810.8	protein_coding	19/19			chr16	TogoVar
NCAPG2_chr7_158626169_158709804	158655677	T T	TTGCCCTG others(308): Show TTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCC CCGTCCTCCCCATCTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCC TCATGACCAGGCCCCATCCTCCCCATCTGCCCTGCACGCAGCACCACCCG TCCCCTCCCTGCCTCATGACCAGGCCCCGTCCTCCCCATCTGCCCTGCAC GCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCCCCGTCCTCCCC ATCTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGG CCCCGTCCTCCCCATG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	378	0.0027	315	c.238 others(332): Show c.2389-223_2389-222insCATGGGGAGGACGGGGCCTGGTCATGAG GCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCAGATGGGGAGGACGGG GCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCAGA TGGGGAGGACGGGGCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTG CGTGCAGGGCAGATGGGGAGGATGGGGCCTGGTCATGAGGCAGGGAGGGG ACGGGTGGTGCTGCGTGCAGGGCAGATGGGGAGGACGGGGCCTGGTCATG AGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	19/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158655677	T T	TTGCCCTG others(308): Show TTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCC CCGTCCTCCCCATCTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCC TCATGACCAGGCCCCATCCTCCCCATCTGCCCTGCACGCAGCACCACCCG TCCCCTCCCTGCCTCATGACCAGGCCCCGTCCTCCCCATCTGCCCTGCAC GCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCCCCGTCCTCCCC ATGTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGG CCCCATCCTCCCCATG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	378	0.0027	315	c.238 others(332): Show c.2389-223_2389-222insCATGGGGAGGATGGGGCCTGGTCATGAG GCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCACATGGGGAGGACGGG GCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCAGA TGGGGAGGACGGGGCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTG CGTGCAGGGCAGATGGGGAGGATGGGGCCTGGTCATGAGGCAGGGAGGGG ACGGGTGGTGCTGCGTGCAGGGCAGATGGGGAGGACGGGGCCTGGTCATG AGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	19/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158655677	T T	TTGCCCTG others(308): Show TTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCC CCGTCCTCCCCATCTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCC TCATGACCAGGCCCCATCCTCCCCATGTGCCCTGCACGCAGCACCACCCG TCCCCTCCCTGCCTCATGACCAGGCCCCATCCTCCCCATGTGCCCTGCAC GCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCCCCGTCCTCCCC ATCTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGG CCCCGTCCTCCCCATG	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	378	0.0027	315	c.238 others(332): Show c.2389-223_2389-222insCATGGGGAGGACGGGGCCTGGTCATGAG GCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCAGATGGGGAGGACGGG GCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCACA TGGGGAGGATGGGGCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTG CGTGCAGGGCACATGGGGAGGATGGGGCCTGGTCATGAGGCAGGGAGGGG ACGGGTGGTGCTGCGTGCAGGGCAGATGGGGAGGACGGGGCCTGGTCATG AGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	19/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158655677	T T	TTGCCCTG others(308): Show TTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCC CCGTCCTCCCCATCTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCC TCATGACCAGGCCCCATCCTCCCCATGTGCCCTGCACGCAGCACCACCCG TCCCCTCCCTGCCTCATGACCAGGCCCCGTCCTCCCCATGTGCCCTGCAC GCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCCCCATCCTCCCC ATGTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGG CCCCATCCTCCCCATG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0302 a0001c0001t0001g0302	1	378	0.0027	315	c.238 others(332): Show c.2389-223_2389-222insCATGGGGAGGATGGGGCCTGGTCATGAG GCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCACATGGGGAGGATGGG GCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCACA TGGGGAGGACGGGGCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTG CGTGCAGGGCACATGGGGAGGATGGGGCCTGGTCATGAGGCAGGGAGGGG ACGGGTGGTGCTGCGTGCAGGGCAGATGGGGAGGACGGGGCCTGGTCATG AGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	19/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158655677	T T	TTGCCCTG others(308): Show TTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCC CCGTCCTCCCCATCTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCC TCATGACCAGGCCCCATCCTCCCCATGTGCCCTGCACGCAGCACCACCCG TCCCCTCCCTGCCTCATGACCAGGCCCCGTCCTCCCCATGTGCCCTGCAC GCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCCCCGTCCTCCCC ATCTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGG CCCCGTCCTCCCCATG	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0125	1	378	0.0027	315	c.238 others(332): Show c.2389-223_2389-222insCATGGGGAGGACGGGGCCTGGTCATGAG GCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCAGATGGGGAGGACGGG GCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCACA TGGGGAGGACGGGGCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTG CGTGCAGGGCACATGGGGAGGATGGGGCCTGGTCATGAGGCAGGGAGGGG ACGGGTGGTGCTGCGTGCAGGGCAGATGGGGAGGACGGGGCCTGGTCATG AGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	19/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158655677	T T	TTGCCCTG others(308): Show TTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCC CCGTCCTCCCCATCTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCC TCATGACCAGGCCCCGTCCTCCCCATCTGCCCTGCACGCAGCACCACCCG TCCCCTCCCTGCCTCATGACCAGGCCCCATCCTCCCCATGTGCCCTGCAC GCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCCCCGTCCTCCCC ATCTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGG CCCCATCCTCCCCATG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	378	0.0027	315	c.238 others(332): Show c.2389-223_2389-222insCATGGGGAGGATGGGGCCTGGTCATGAG GCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCAGATGGGGAGGACGGG GCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCACA TGGGGAGGATGGGGCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTG CGTGCAGGGCAGATGGGGAGGACGGGGCCTGGTCATGAGGCAGGGAGGGG ACGGGTGGTGCTGCGTGCAGGGCAGATGGGGAGGACGGGGCCTGGTCATG AGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	19/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158655677	T T	TTGCCCTG others(308): Show TTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCC CCGTCCTCCCCATCTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCC TCATGACCAGGCCCCGTCCTCCCCATCTGCCCTGCACGCAGCACCACCCG TCCCCTCCCTGCCTCATGACCAGGCCCCGTCCTCCCCATCTGCCCTGCAC GCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCCCCATCCTCCCC ATGTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGG CCCCATCCTCCCCATG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	378	0.0027	315	c.238 others(332): Show c.2389-223_2389-222insCATGGGGAGGATGGGGCCTGGTCATGAG GCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCACATGGGGAGGATGGG GCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCAGA TGGGGAGGACGGGGCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTG CGTGCAGGGCAGATGGGGAGGACGGGGCCTGGTCATGAGGCAGGGAGGGG ACGGGTGGTGCTGCGTGCAGGGCAGATGGGGAGGACGGGGCCTGGTCATG AGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	19/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158655677	T T	TTGCCCTG others(308): Show TTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCC CCGTCCTCCCCATCTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCC TCATGACCAGGCCCCGTCCTCCCCATCTGCCCTGCACGCAGCACCACCCG TCCCCTCCCTGCCTCATGACCAGGCCCCGTCCTCCCCATCTGCCCTGCAC GCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCCCCGTCCTCCCC ATCTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGG CCCCGTCCTCCCCATC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	378	0.0027	315	c.238 others(332): Show c.2389-223_2389-222insGATGGGGAGGACGGGGCCTGGTCATGAG GCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCAGATGGGGAGGACGGG GCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCAGA TGGGGAGGACGGGGCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTG CGTGCAGGGCAGATGGGGAGGACGGGGCCTGGTCATGAGGCAGGGAGGGG ACGGGTGGTGCTGCGTGCAGGGCAGATGGGGAGGACGGGGCCTGGTCATG AGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	19/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158655677	T T	TTGCCCTG others(308): Show TTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCC CCGTCCTCCCCATCTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCC TCATGACCAGGCCCCGTCCTCCCCATGTGCCCTGCACGCAGCACCACCCG TCCCCTCCCTGCCTCATGACCAGGCCCCGTCCTCCCCATGTGCCCTGCAC GCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCCCCGTCCTCCCC ATGTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGG CCCCGTCCTCCCCATG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0354 a0001c0001t0001g0354	1	378	0.0027	315	c.238 others(332): Show c.2389-223_2389-222insCATGGGGAGGACGGGGCCTGGTCATGAG GCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCACATGGGGAGGACGGG GCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCACA TGGGGAGGACGGGGCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTG CGTGCAGGGCACATGGGGAGGACGGGGCCTGGTCATGAGGCAGGGAGGGG ACGGGTGGTGCTGCGTGCAGGGCAGATGGGGAGGACGGGGCCTGGTCATG AGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	19/27			chr7	TogoVar
NCEH1_chr3_172625249_172716067	172690951	T T	TCTGTGGG others(308): Show TCTGTGGGGAAATTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCT CCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0043 a0001c0001t0009g0043	1	332	0.0030	315	c.138 others(334): Show c.138+19895_138+19896insGGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAG ATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGT GAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAATTTCCCCACAG	NCEH1	ENSG00000144959.11	transcript	ENST00000475381.7	protein_coding	1/4			chr3	TogoVar
NDST4_chr4_114822763_115118620	114947689	T T	TAATTTTG others(308): Show TAATTTTGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGG CTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGA GAATGGCGTGAATCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCCCGCC ACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0095 a0001c0004t0001g0095	1	190	0.0053	315	c.122 others(336): Show c.1222-10187_1222-10186insTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGAT CTCGGCTCACTGCAAGCTCTGCCTCCCGGATTCACGCCATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATG GTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGC TGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGCAAAATT	NDST4	ENSG00000138653.10	transcript	ENST00000264363.7	protein_coding	4/13			chr4	TogoVar
NDUFA9_chr12_4644114_4699317	4661708	A A	ACTAGAGT others(308): Show ACTAGAGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTC GCTCTGTCGCCCAGGCTGGAGCGCAGTGGCGCGATCTCGACTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCGCACCACCATGCCCGGCTAATTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGTCAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCACGCCCGGC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02976.hp1 HG02486.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0059 a0001c0001t0044 a0001c0001t0059	a0001c0001t0044g0195 a0001c0001t0059g0194 a0001c0001t0044g0195 a0001c0001t0059g0194	2	362	0.0055	315	c.553 others(330): Show c.553-814_553-813insTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTTTCGCTCTGTCGCCCAGGCTGGAGCGCAGTGGCGCGATCTCGACT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCGCACCACCATGCCCGGCTAATTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTGTCAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCACGCCCGGCCTAGAGTTCTT	NDUFA9	ENSG00000139180.11	transcript	ENST00000266544.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
NDUFA9_chr12_4644114_4699317	4661708	A A	ACTAGAGT others(308): Show ACTAGAGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTC GCTCTGTCGCCCAGGCTGGAGCGCAGTGGCGCGATCTCGACTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGTCAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0163 a0001c0001t0040g0163	1	362	0.0028	315	c.553 others(330): Show c.553-814_553-813insTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTTTCGCTCTGTCGCCCAGGCTGGAGCGCAGTGGCGCGATCTCGACT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTGTCAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCTAGAGTTCTT	NDUFA9	ENSG00000139180.11	transcript	ENST00000266544.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
NDUFB4_chr3_120591336_120607507	120600105	T T	TAAGGTTT others(308): Show TAAGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03927.hp1 NA18964.hp1 NA18995.hp1 HG03927.hp1 NA18964.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	3	424	0.0071	315	c.181 others(330): Show c.181-991_181-990insTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCAAGGTTTTTTTTTTT	NDUFB4	ENSG00000065518.8	transcript	ENST00000184266.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
NDUFB4_chr3_120591336_120607507	120600109	G G	GTTTTTTT others(308): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCAAGGTT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	424	0.0024	315	c.181 others(330): Show c.181-991_181-990insTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCAAGGTTTTTTTTTTTTT	NDUFB4	ENSG00000065518.8	transcript	ENST00000184266.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
NDUFB4_chr3_120591336_120607507	120600109	G G	GTTTTTTT others(308): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCAAGGTTT	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	424	0.0024	315	c.181 others(330): Show c.181-991_181-990insTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCAAGGTTTTTTTTTTTTTT	NDUFB4	ENSG00000065518.8	transcript	ENST00000184266.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
NDUFB4_chr3_120591336_120607507	120600109	G G	GTTTTTTT others(308): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCAAGGT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp1 HG00673.hp2 others(7): Show HG00423.hp2 HG00597.hp1 HG00673.hp2 HG03927.hp2 NA18966.hp2 NA18989.hp2 NA18993.hp2 NA19010.hp1 NA19072.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0010 a0001c0001t0001g0043 a0001c0001t0001g0048	10	424	0.0236	315	c.181 others(330): Show c.181-991_181-990insTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCAAGGTTTTTTTTTTTT	NDUFB4	ENSG00000065518.8	transcript	ENST00000184266.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
NEFM_chr8_24908761_24924093	24921587	T T	TAAGAACA others(308): Show TAAGAACAGATTTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCAGT GGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGCCACAGCA CTCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG03017.hp1 HG02615.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	430	0.0047	315	c.29 others(326): Show c.2981_*2982insAAGAACAGATTTTTGGCCGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGCAGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGA GATCGCGCCACAGCACTCCCGCCTGGGCGACAGAACGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NEFM	ENSG00000104722.14	transcript	ENST00000221166.10	protein_coding		2495		chr8	TogoVar
NELL2_chr12_44503278_44881315	44737351	T T	TCAATAAC others(308): Show TCAATAACTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0058 a0001c0001t0010g0058	1	158	0.0063	315	c.995 others(334): Show c.995-22611_995-22610insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTAC TTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGC AGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGTTATTG	NELL2	ENSG00000184613.11	transcript	ENST00000429094.7	protein_coding	9/19			chr12	TogoVar
NFIB_chr9_14076848_14319141	14205256	G G	GGGGAAGG others(308): Show GGGGAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAAGGGAGGAAATGAAGGGAGGGAAAGGAGGGTGAGAGGGAGGGAG GGAAGGAAGGGAGGGAGGGAGGGGAGGAAATGAAGGGAGGAAAAGGAGAA AATGAAAGGAAGGGAAGGGAAGGAAGGGAGAGAGGAAGGGAGGGAGGAAA GGAAGGAGAGGAGGGAGGGAAAGCAGGGAAGGAAGGAAGAAAGGGAGGGA GAGAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0276 a0001c0001t0083g0276	1	304	0.0033	315	c.563 others(334): Show c.563-25477_563-25476insTCCCTCCCTCCCTCTCTCCCTCCCTT TCTTCCTTCCTTCCCTGCTTTCCCTCCCTCCTCTCCTTCCTTTCCTCCCT CCCTTCCTCTCTCCCTTCCTTCCCTTCCCTTCCTTTCATTTTCTCCTTTT CCTCCCTTCATTTCCTCCCCTCCCTCCCTCCCTTCCTTCCCTCCCTCCCT CTCACCCTCCTTTCCCTCCCTTCATTTCCTCCCTTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTCCC	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10			chr9	TogoVar
NFIB_chr9_14076848_14319141	14205256	G G	GGGGAAGG others(308): Show GGGGAAGGAAGGAGGGAGGGAGGGAGGGACGGAGGAAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAAGGGAGGAAATGAAGGGAGGGAAAGGAGGGTGAGAGGGAG GGAGGGAAGGAAGGGAGGGAGGGAGGGGAGGAAATGAAGGGAGGAAAAGG AGAAAATGAAAGGAAGGGAAGGGAAGGAAGGGAGAGAGGAAGGGAGGGAG GAAAGGAAGGAGAGGAGGGAGGGAAAGCAGGGAAGGAAGGAAGAAAGGGA GGGAGAGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02717.hp2 NA20300.hp1 others(1): Show HG02647.hp1 HG02717.hp2 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0014 a0001c0001t0091 others(1): Show a0001c0001t0006 a0001c0001t0014 a0001c0001t0091 a0001c0001t0107	a0001c0001t0006g0077 a0001c0001t0014g0152 a0001c0001t0091g0162 others(1): Show a0001c0001t0006g0077 a0001c0001t0014g0152 a0001c0001t0091g0162 a0001c0001t0107g0142	4	304	0.0132	315	c.563 others(334): Show c.563-25477_563-25476insTCCCTCCCTCTCTCCCTCCCTTTCTT CCTTCCTTCCCTGCTTTCCCTCCCTCCTCTCCTTCCTTTCCTCCCTCCCT TCCTCTCTCCCTTCCTTCCCTTCCCTTCCTTTCATTTTCTCCTTTTCCTC CCTTCATTTCCTCCCCTCCCTCCCTCCCTTCCTTCCCTCCCTCCCTCTCA CCCTCCTTTCCCTCCCTTCATTTCCTCCCTTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTTCCTCCGTCCCTCCCTCCCTCCCTCCTTCCTTCCC	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10			chr9	TogoVar
NFILZ_chr19_8625633_8686151	8656482	C C	CAGCGCAC others(308): Show CAGCGCACCTCCTCCCTGAAGCCCCCTTCTTCCTGAAGCCCACCTCTTCC CTGAAGCCCACCTTCTCCCGCAGCCCACCTTCTCCTGCAGCCCACCTTCT CTCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTGCAGCCCACCT TCTCTCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTGCAGCCCA CCTTCTCTCTGAAGCCCACCTTCTCCCGCAGCCCACCTTCTCTCTGAAAC CCACCTCTTTCCGCAGCCCACCTTCTCCTGCAGCCCACCTTCTCCCGCAG CCCACCTTCTCCCTGA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0104 a0001c0001t0004g0104	1	366	0.0027	315	c.-16 others(336): Show c.-163-18066_-163-18065insGCACCTCCTCCCTGAAGCCCCCTT CTTCCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCCGCAGCCCAC CTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTCTTCCCTGAAGCC CACCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTCTTCCCTGAA GCCCACCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTTCTCCCG CAGCCCACCTTCTCTCTGAAACCCACCTCTTTCCGCAGCCCACCTTCTCC TGCAGCCCACCTTCTCCCGCAGCCCACCTTCTCCCTGAAGC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAT others(308): Show CTGTATATGTGTACAGTATGTATACTGCGTACAGCATGTATACTGTATAT ATGTACAGTATGTATACTGTATATATGTACAGTATGTATACTGTATACAG CATGTATACTGTATACAGCATGTATACTGTATACAGCATGTATACTGTAT ATATGTACAGTATGTATACCGTATACAGCATGTATACTGTATATATGTAC AGTATGTATACCGTATACAGTATGTATACCGTATACATATACAGTATGTA TACCGTATACAGTATGTATACCGTATATATATACACAGTATGTATACCGT ATATATATACACAGTA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0315 a0001c0007t0001g0315	1	362	0.0028	315	c.-75 others(334): Show c.-75+17711_-75+17712insTACTGTGTATATATATACGGTATACA TACTGTGTATATATATACGGTATACATACTGTATACGGTATACATACTGT ATATGTATACGGTATACATACTGTATACGGTATACATACTGTACATATAT ACAGTATACATGCTGTATACGGTATACATACTGTACATATATACAGTATA CATGCTGTATACAGTATACATGCTGTATACAGTATACATGCTGTATACAG TATACATACTGTACATATATACAGTATACATACTGTACATATATACAGTA TACATGCTGTACGCAGTATACATACTGTACACATATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(308): Show CTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTGTACAGCATG TATACTGTATGTATGTATACTGTATGTATGTATACTGTATGTATGTATAC CGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCG TATATATACACAGTATGTATACCGTATATATACACAGTATGTATACTGTG TATGCAGTATGTATACTGTATATATACACTATACAGTATGTATACTGTAT ATATACACACAGTATGTATACTGTATATATACACACAGTATGTATACTGT ATATATACACACAGTA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0222 a0001c0007t0001g0222	1	362	0.0028	315	c.-75 others(334): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTATAGTGTATATATACAGTATACATACTGCATACACAGTATAC ATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACAT ACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACATAC ATACAGTATACATACATACAGTATACATACATACAGTATACATGCTGTAC ACAGTATACATGCTGTACACAGTATACATGCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NKX1-1_chr4_1397932_1411442	1397940	G G	GCAGGGTG others(308): Show GCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGG GTGTTTTCGGGCATCTGGATGTGAGTAGATCAGGTTGGATGCCGGGTGCT TTCAGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGG GCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCAGGCATC TGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGAT GTGAGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGAG TAGATCAGGTTGGATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	382	0.0026	315	c.49 others(326): Show c.4991_*4992insTATCCAACCTGATCTACTCACATCCAGATGCCCG AAAACACCCTGCATCCAACCTGATCTACTCACATCCAGATGCCCGAAAAC ACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCTGAAAACACCCT GCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATC CAACCTGATCTACCCACATCCAGATGCCTGAAAGCACCCGGCATCCAACC TGATCTACTCACATCCAGATGCCCGAAAACACCCGGCATCCAACCTGATC TACCCACATCCAGATGCCCGAAAACACCCTG	NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding		4991		chr4	TogoVar
NKX1-1_chr4_1397932_1411442	1398030	G G	GCAGGGTG others(308): Show GCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGG GTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTT TTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGG GCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCATC TGGATGTGGGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGAT GTGGGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGAG TAGATCAGGTTGGATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	382	0.0026	315	c.49 others(326): Show c.4901_*4902insTATCCAACCTGATCTACTCACATCCAGATGCCCG AAAACACCCGGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAAC ACCCGGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCG GCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATC CAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACC TGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATC TACCCACATCCAGATGCCCGAAAACACCCTG	NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding		4901		chr4	TogoVar
NKX1-1_chr4_1397932_1411442	1398448	G G	GGGCATCT others(308): Show GGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCA TCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGG ATGTGGGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTG GGTAGATCAGGTTGGATGCAGGGTGTTTTCAGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCAGGGTGCTTTCAGGCATCTGGATGTGGGTAGATCAG GTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGG ATACAGGGTGCTTTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp2 NA19074.hp2 NA18940.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	382	0.0052	315	c.44 others(326): Show c.4483_*4484insTGAAAGCACCCTGTATCCAACCTGATCTACCCAC ATCCAGATGCCCGAAAACACCCGGCATCCAACCTGATCTACCCACATCCA GATGCCTGAAAGCACCCTGCATCCAACCTGATCTACCCACATCCAGATGC CTGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAA AACACCCGGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACAC CCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGC ATCCAACCTGATCTACCCACATCCAGATGCC	NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding		4483		chr4	TogoVar
NKX1-1_chr4_1397932_1411442	1398448	G G	GGGCATCT others(308): Show GGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCA TCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGG ATGTGGGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTG GGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCAGGGTGCTTTCAGGCATCTGGATGTGGGTAGATCAG GTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGG ATGCAGGGTGCTTTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	382	0.0026	315	c.44 others(326): Show c.4483_*4484insTGAAAGCACCCTGCATCCAACCTGATCTACCCAC ATCCAGATGCCCGAAAACACCCGGCATCCAACCTGATCTACCCACATCCA GATGCCTGAAAGCACCCTGCATCCAACCTGATCTACCCACATCCAGATGC CCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAA AACACCCGGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACAC CCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGC ATCCAACCTGATCTACCCACATCCAGATGCC	NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding		4483		chr4	TogoVar
NLRP12_chr19_53788741_53829314	53794571	C C	CGGCCTCC others(308): Show CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCA TAATTTTTTTTTTTTTATATACTGAGTCTTGCTGTCACCCAGGCTGGAGT GGGGTAGTGTGATCTCGGCTCACTGCAACCTCCACGTCCCATGTCCTAGT GATCCTCCCACCTCAGCCTCCCTAGTAGCTGGGACTACAGAGTAGCTGGG ACTATAGGTGCGTGCTACCATGCCCAGCTAATTTTTGTATTTTTAGCAGA GACAGGGATTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTGAA GCAATCTGCTCATCTT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02559.hp2 HG01981.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0282 a0001c0001t0006g0286 a0001c0001t0006g0282 a0001c0001t0006g0286	2	416	0.0048	315	c.309 others(332): Show c.3099-436_3099-435insAAGATGAGCAGATTGCTTCAGGTCAGGA GTTCCAGACCAGCCTGGCCAACATGGTGAATCCCTGTCTCTGCTAAAAAT ACAAAAATTAGCTGGGCATGGTAGCACGCACCTATAGTCCCAGCTACTCT GTAGTCCCAGCTACTAGGGAGGCTGAGGTGGGAGGATCACTAGGACATGG GACGTGGAGGTTGCAGTGAGCCGAGATCACACTACCCCACTCCAGCCTGG GTGACAGCAAGACTCAGTATATAAAAAAAAAAAAATTATGGCCGGGCATG GTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCC	NLRP12	ENSG00000142405.23	transcript	ENST00000324134.11	protein_coding	9/9			chr19	TogoVar
NLRP8_chr19_55942832_55993629	55993534	C C	CTCCCCCA others(308): Show CTCCCCCACCTCTCCCCCACCTCTCCCCCCCTCTCCCCCCCTCCCCCCCT CCCCCCTCCCCCCTCTCCCCCTCCCTCCCCCTCCCCCCTCTCCCCCTCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCC CCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCC TCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0027 a0027	a0027c0040 a0027c0040	a0027c0040t0027 a0027c0040t0027	a0027c0040t0027g0227 a0027c0040t0027g0227	1	350	0.0029	315	c.56 others(326): Show c.5621_*5622insTCCCCCACCTCTCCCCCACCTCTCCCCCCCTCTC CCCCCCTCCCCCCCTCCCCCCTCCCCCCTCTCCCCCTCCCTCCCCCTCCC CCCTCTCCCCCTCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4906		chr19	TogoVar
NME4_chr16_392199_405754	397707	T T	TGTGGGGG others(308): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	356	0.0028	315	c.91+ others(328): Show c.91+431_91+432insTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOS1AP_chr1_162064691_162375475	162110292	A A	ACCAGCCA others(308): Show ACCAGCCAAATAACTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01891.hp1 HG02071.hp1 others(16): Show HG01109.hp2 HG01891.hp1 HG02071.hp1 HG02109.hp2 HG02132.hp2 HG02280.hp1 HG02451.hp1 HG02717.hp1 HG02818.hp2 HG02886.hp2 HG03041.hp1 HG03225.hp1 HG03225.hp2 HG03516.hp1 HG03540.hp2 HG06807.hp1 NA19030.hp1 NA19030.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007	a0001c0001t0002 a0001c0001t0012 a0001c0001t0021 others(11): Show a0001c0001t0002 a0001c0001t0012 a0001c0001t0021 a0001c0002t0001 a0001c0002t0004 a0001c0002t0009 a0001c0002t0032 a0001c0003t0003 a0001c0003t0005 a0001c0003t0013 a0001c0003t0018 a0001c0003t0031 a0001c0004t0003 a0001c0007t0008	a0001c0001t0002g0160 a0001c0001t0012g0170 a0001c0001t0012g0174 others(16): Show a0001c0001t0002g0160 a0001c0001t0012g0170 a0001c0001t0012g0174 a0001c0001t0021g0069 a0001c0002t0001g0153 a0001c0002t0004g0169 a0001c0002t0009g0074 a0001c0002t0032g0177 a0001c0003t0003g0168 a0001c0003t0003g0173 a0001c0003t0003g0175 a0001c0003t0005g0171 a0001c0003t0013g0180 a0001c0003t0013g0181 a0001c0003t0018g0044 a0001c0003t0031g0178 a0001c0004t0003g0159 a0001c0004t0003g0172 a0001c0007t0008g0075	19	182	0.1044	315	c.105 others(334): Show c.105+40027_105+40028insTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCAGCCAAATAACTTTT	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162110292	A A	ACCAGCCA others(308): Show ACCAGCCAAATAACTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCTGG	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18994.hp1 NA18945.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0161 a0001c0002t0001g0162 a0001c0001t0002g0161 a0001c0002t0001g0162	2	182	0.0110	315	c.105 others(334): Show c.105+40027_105+40028insTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCTGGCCAGCCAAATAACTTTT	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162267456	T T	TCATAATA others(308): Show TCATAATAACTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCACCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	182	0.0055	315	c.178 others(334): Show c.178-19874_178-19873insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCACCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCCATAATAACTTTTT	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOVA1_chr14_26438090_26603033	26570993	C C	CAAGAATC others(308): Show CAAGAATCACAAAGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03098.hp1 HG02572.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0007 a0001c0001t0008	a0001c0001t0007g0213 a0001c0001t0008g0230 a0001c0001t0007g0213 a0001c0001t0008g0230	2	244	0.0082	315	c.280 others(334): Show c.280+24416_280+24417insTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCGACTTTGTGATTCTT	NOVA1	ENSG00000139910.20	transcript	ENST00000539517.7	protein_coding	2/4			chr14	TogoVar
NRBP1_chr2_27423631_27447259	27439616	T T	TCAGGTGC others(308): Show TCAGGTGCATTTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGACCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	276	0.0036	315	c.904 others(330): Show c.904-136_904-135insTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGACCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCACAGGTGCATTTTTC	NRBP1	ENSG00000115216.14	transcript	ENST00000379852.8	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
NRF1_chr7_129606720_129762076	129642756	A A	ACTTTTTT others(308): Show ACTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCTTTTT	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA19060.hp1 NA18980.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0101 a0001c0001t0002g0103	2	384	0.0052	315	c.-6- others(332): Show c.-6-14590_-6-14589insCTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTTTT	NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding	1/10			chr7	TogoVar
NRXN1_chr2_49913503_51037132	50375491	T T	TAATTCTG others(308): Show TAATTCTGAAGCTCTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02280.hp1 HG02647.hp1 others(8): Show HG02074.hp2 HG02280.hp1 HG02647.hp1 HG02717.hp1 HG02896.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 NA18941.hp2 NA18959.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0001c0010	a0001c0001t0006 a0001c0001t0011 a0001c0001t0014 others(7): Show a0001c0001t0006 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0056 a0001c0002t0001 a0001c0002t0006 a0001c0002t0047 a0001c0008t0016 a0001c0010t0063	a0001c0001t0006g0054 a0001c0001t0011g0070 a0001c0001t0014g0022 others(8): Show a0001c0001t0006g0054 a0001c0001t0011g0070 a0001c0001t0014g0022 a0001c0001t0015g0037 a0001c0001t0056g0049 a0001c0002t0001g0101 a0001c0002t0001g0105 a0001c0002t0006g0108 a0001c0002t0047g0102 a0001c0008t0016g0048 a0001c0010t0063g0059	11	116	0.0948	315	c.336 others(336): Show c.3364+89950_3364+89951insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGA GATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAGAGCTTCAGAATT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN2_chr11_64601174_64728197	64706162	A A	ATATATAA others(308): Show ATATATAATATATATTATATATATAAAGTATATATATAATATATATAATA TATATTATATATATAAAGTATATATATAATATATATAATATATATTATAT ATATAAAGTATATATATAATATATATAATATATATTATATATATAAAGTA TATATATAATATATATAATATATATTATATATATAAAGTATATATATAAT ATATATAATATATATTATATATATAAAGTATATATATAATATATATTATA TATAAAGTATATATATAATATATATTATATATATATAAAATATATAATAT ATATTATATATATAAG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02027.hp2 NA18951.hp2 others(1): Show HG00558.hp2 HG02027.hp2 NA18951.hp2 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0102 others(1): Show a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0102 a0001c0002t0001g0202	4	308	0.0130	315	c.730 others(332): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATATAATATATATTATATATATACTTTATATATAATATATAT TATATATATACTTTATATATATAATATATATTATATATATTATATATATA CTTTATATATATAATATATATTATATATATTATATATATACTTTATATAT ATAATATATATTATATATATTATATATATACTTTATATATATAATATATA TTATATATATTATATATATACTTTATATATATAATATATATTATATATAT TATATATATACTTTATATATATAATATATATTATATA	NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22			chr11	TogoVar
NUBPL_chr14_31556404_31866224	31807284	T T	TTGTTTCC others(308): Show TTGTTTCCTGACTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0006	a0004c0004t0006g0265 a0004c0004t0006g0265	1	268	0.0037	315	c.608 others(334): Show c.608-19329_608-19328insTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCTGTTTCCTGACTTTTT	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr14	TogoVar

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