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
METRNL_chr17_83074609_83100122	83090264	A A	ACACACCC others(382): Show ACACACCCCCGCCCCGCCCCAGGGTGGGAACCACACACCCCCGCCCCGCC CCAGGGTGGGAGCCACACACCCCCGCCCCGCCCCAGGGTGGGAGCCACAC ACACCCCCGCCCCGCCCCAGGGTGGGAGCCACACACACCCCCGCCCTGCC CCAGGGTGGGAGCCACACACACACCCCCCCCCCACACACACCCCGCCCCA CACACACACCCCCCGCCCCACACACACACACCCCGCCCCACACACACACC CCCCGCCCCACACACACACACACCCCCGCCCCACACACACACACCCCCGC CCCGCCCCAGGGTGGGAGCCACACACCCCCGCCCTGCCCCAGGGTGGGAG CCACACACACACCCCCCACCCCCCGCCCCAGGGTGGGAAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp1 NA20129.hp2 HG01243.hp2 HG01884.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0174 a0001c0001t0002g0218 a0001c0001t0002g0152 a0001c0001t0002g0174 a0001c0001t0002g0218	3	378	0.0079	389	c.557 others(406): Show c.557-2898_557-2897insCCCCGCCCCGCCCCAGGGTGGGAACCAC ACACCCCCGCCCCGCCCCAGGGTGGGAGCCACACACCCCCGCCCCGCCCC AGGGTGGGAGCCACACACACCCCCGCCCCGCCCCAGGGTGGGAGCCACAC ACACCCCCGCCCTGCCCCAGGGTGGGAGCCACACACACACCCCCCCCCCA CACACACCCCGCCCCACACACACACCCCCCGCCCCACACACACACACCCC GCCCCACACACACACCCCCCGCCCCACACACACACACACCCCCGCCCCAC ACACACACACCCCCGCCCCGCCCCAGGGTGGGAGCCACACACCCCCGCCC TGCCCCAGGGTGGGAGCCACACACACACCCCCCACCCCCCGCCCCAGGGT GGGAACCACAC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
MSLN_chr16_755734_773862	767619	G G	GGCGTGGA others(382): Show GGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGA GGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGT GTGGAGGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGGGGT GCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGA GGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGCGC GTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGG CGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGGTGTGTGGGGGGGGCA CGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	218	0.0046	389	c.159 others(406): Show c.1596+173_1596+174insGGGCCGTGTGGGGGGGCGTGGAGGAGGG GCGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTG GAGGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGGGGTGCG TGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGG GGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGCGCGTG GAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGC GTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGGTGTGTGGGGGGGGCACGT GGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGG GCGCGTGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
NHLRC4_chr16_562005_574495	571109	C C	CTGGCTAG others(382): Show CTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTG TGTGTATGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGC TAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTG CCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCC TTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGT GTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTG TGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	11	0.0909	389	c.26 others(400): Show c.2690_*2691insTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCC TGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGTCTGGCTAGCC TGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTCTGGCTAG CCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGT CTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGG GGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCT GGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCT AGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGC ACCCG	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1615		chr16	TogoVar
NHLRC4_chr16_562005_574495	571109	C C	CTGGCTAG others(382): Show CTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTG TGTGTATGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGC TAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTG CCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGTGGGGGGGGGCTAGCC TTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGT GTGTGTCTGGCTAGCCTGTGTGTGTGTGTGGCTAGCCTGGCGCCTGTGTG TGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	11	0.0909	389	c.26 others(400): Show c.2690_*2691insTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCC TGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGTCTGGCTAGCC TGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTCTGGCTAG CCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGT CTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGT GGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCT GGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGGCTAG CCTGGCGCCTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGC ACCCG	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1615		chr16	TogoVar
NHLRC4_chr16_562005_574495	571109	C C	CTGGCTAG others(382): Show CTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTG TGTGTATGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGC TAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTG CCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGTGTGGGGGGGCTAGCC TTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGT GTGTGTCTGGCTAGCCTGTGTGTGTGTGTGGCTAGCCTGGCGCCTGTGTG TGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 NA20300.hp2 HG02615.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	2	12	0.1667	389	c.26 others(400): Show c.2690_*2691insTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCC TGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGTCTGGCTAGCC TGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTCTGGCTAG CCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGT CTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGT GTGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCT GGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGGCTAG CCTGGCGCCTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGC ACCCG	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1615		chr16	TogoVar
NHLRC4_chr16_562005_574495	571109	C C	CTGGCTAG others(382): Show CTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTG TGTGTATGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGC TAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTG CCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGTGTTGGGGGGCTAGCC TTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGT GTGTGTCTGGCTAGCCTGTGTGTGTGTGTGGCTAGCCTGGCGCCTGTGTG TGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	11	0.0909	389	c.26 others(400): Show c.2690_*2691insTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCC TGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGTCTGGCTAGCC TGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTCTGGCTAG CCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGT CTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGT GTTGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCT GGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGGCTAG CCTGGCGCCTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGC ACCCG	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1615		chr16	TogoVar
NR3C2_chr4_148073764_148447414	148366441	T T	TAAAAGTA others(382): Show TAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAG AATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACT TTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTT AAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAG AATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACT TTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTT AAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAGTACTTTTAAAAAAGA ATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0160 a0001c0001t0004g0160	1	8	0.1250	389	c.175 others(410): Show c.1757+68662_1757+68663insTAAAAAGTATTCTTTTTTAAAAGT ACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTAAAAAGTATTCTTT TTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAA AGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTA CTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTT TTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAA AGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTA CTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTT TTTAAAAGTACTTTT	NR3C2	ENSG00000151623.15	transcript	ENST00000358102.8	protein_coding	2/8			chr4	TogoVar
NXN_chr17_794310_984776	841445	C C	CTCCCTGA others(382): Show CTCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCTCCCGACCAC GGAGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCA CACGGGCGAGCAGGTCCCCCCGACCACAGAGCATCTCACACGGGCAAGCA GGTCCACCCTGACCACAGCGCATCTCACACCCGCGAGCAGGTCCCCCCTG ACCACGGAGCATCTCACACCCGCGAGCAGGTCCCCCCTGACCACGGCGCA TCTCACACCCGCGAGCAGGTCCACCCTGACCACGGAGCATCTCACACGGG CGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACCCGCGAGCAGGTCC CCCCTGACCACGGCGCATCTCACACCCGCGAGCAGGTCCA	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	160	0.0063	389	c.361 others(408): Show c.361-15368_361-15367insTGGACCTGCTCGCGGGTGTGAGATGC GCCGTGGTCAGGGGGGACCTGCTCGCGGGTGTGAGATGCGCCGTGGTCAG GGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGTGGACCTGC TCGCGGGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCGGGTGTG AGATGCTCCGTGGTCAGGGGGGACCTGCTCGCGGGTGTGAGATGCGCTGT GGTCAGGGTGGACCTGCTTGCCCGTGTGAGATGCTCTGTGGTCGGGGGGA CCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCC GTGTGAGATGCTCCGTGGTCGGGAGGACCTGCTCGCCCGTGTGAGATGCT CCGTGGTCAGGGA	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841603	C C	CTGACCAC others(382): Show CTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGA GCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACAC GGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACCCACAGGCAGG TCCCCCCTGACCACGGAGCATCTCACACCCACAGGCAGGTCCCCCCGACC ACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCT CACACCCACGGGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAG CAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCC TGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	151	0.0066	389	c.361 others(408): Show c.361-15526_361-15525insAGGGTGGACCTGCTCGCCCGTGTGAG ATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGG TCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACC TGCCCGTGGGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGT GTGAGATGCGCCGTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCTCC GTGGTCAGGGGGGACCTGCCTGTGGGTGTGAGATGCTCCGTGGTCAGGGG GGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCG CCCGTGTGAGATGCTCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGA TGCTCCGTGGTCA	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PALLD_chr4_168492052_168933441	168793366	C C	CATATATA others(382): Show CATATATATACATATATATGTGTGCATATATATACATATATATGTGTGCA TATATATACATATATATGTGTGCATATATATACATATATATGTGTGCATA TATATACATATATATGTGTGCATATATATACATATATATGTGTGCATATA TATACATATATATGTGTGCATATATATACATATATATGTGTGCATATATA TACATATATATGTGTGCATATATATACATATATATGTGTGCATATATATA CATATATATGTGTGCATATATATACATATATATGTGTGCATATATATACA TATATATGTGTGCATATATATACATATATATGTGTGCATATATATACATA TATATGTGATATATATCGCATATATATACATATATATGTG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0149 a0001c0001t0002g0149	1	136	0.0074	389	c.196 others(410): Show c.1964+81451_1964+81452insACATATATATGTGTGCATATATAT ACATATATATGTGTGCATATATATACATATATATGTGTGCATATATATAC ATATATATGTGTGCATATATATACATATATATGTGTGCATATATATACAT ATATATGTGTGCATATATATACATATATATGTGTGCATATATATACATAT ATATGTGTGCATATATATACATATATATGTGTGCATATATATACATATAT ATGTGTGCATATATATACATATATATGTGTGCATATATATACATATATAT GTGTGCATATATATACATATATATGTGTGCATATATATACATATATATGT GTGCATATATATACATATATATGTGATATATATCGCATATATATACATAT ATATGTGATATATAT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PATL1_chr11_59631716_59674037	59645321	A A	AGGGCAGA others(382): Show AGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGCAGGGGTGGACGGGCAGAGGCGCCCCCCACTTCCCGGACGGGG TGGCTGGCCGGGCGGGGGGCCGACCCCCCCCCCCTCCCTCCCGGACAGGG CGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGTGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTG ACCCCCCCACATCCCTCCCTCCCGGACGGGGCGGCTGGCC	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG06807.hp2 HG02897.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0205 a0001c0001t0001g0206	2	4	0.5000	389	c.189 others(408): Show c.1894-2287_1894-2286insGGCCAGCCGCCCCGTCCGGGAGGGAG GGATGTGGGGGGGTCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGG TGAGGGGCACCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC TGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGGGGGGGGGGTCGGCCCCC CGCCCGGCCAGCCACCCCGTCCGGGAAGTGGGGGGCGCCTCTGCCCGTCC ACCCCTGCTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCC	PATL1	ENSG00000166889.14	transcript	ENST00000300146.10	protein_coding	15/18			chr11	TogoVar
PDCD6_chr5_266646_319974	318069	T T	TCCCTTGC others(382): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCAC CTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCC TCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCAC CTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCCCCATCTT TTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCT CCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCC CCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01123.hp2 HG01255.hp2 others(3): Show HG00642.hp2 HG01123.hp2 HG01255.hp2 HG01952.hp2 HG01975.hp2 HG02004.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0274 a0002c0003t0001g0281 a0002c0003t0001g0283 others(3): Show a0002c0003t0001g0274 a0002c0003t0001g0281 a0002c0003t0001g0283 a0002c0003t0001g0292 a0002c0003t0001g0295 a0002c0003t0001g0297	6	123	0.0488	389	c.35 others(400): Show c.3554_*3555insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCC ACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCC CCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCC CCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTT ACCTCCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCC CTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCAC GCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTC ACTTC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3096		chr5	TogoVar
PDCD6_chr5_266646_319974	318069	T T	TCCCTTGC others(382): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCAC CTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCC TCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCAC CTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATC TTTTACCTCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCC TCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCC CCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	118	0.0085	389	c.35 others(400): Show c.3554_*3555insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCC ACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCC CCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCC CCCCGCACCCTGCACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCT GCACCTCCCCCCATCTTTTACCTCCCCCTCACCCTGCACCTCCCTCTCGC CCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCA CGCCCCCTCACCTCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTC ACTTC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3096		chr5	TogoVar
PDCD6_chr5_266646_319974	318069	T T	TCCCTTGC others(382): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCCTCCACC TCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCT CACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCACC TCCCCCCGCACCCTGCACTCCCACCCTTACCCTGCACCTCCCCCCATCTT TTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCT CCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCC CCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0223 a0001c0001t0006g0223	1	118	0.0085	389	c.35 others(400): Show c.3554_*3555insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCC ACCTCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCC CCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCCC CCCGCACCCTGCACCTCCCCCCGCACCCTGCACTCCCACCCTTACCCTGC ACCTCCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCC CTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCAC GCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTC ACTTC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3096		chr5	TogoVar
PIGQ_chr16_564968_589109	571109	C C	CTGGCTAG others(382): Show CTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTG TGTGTATGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGC TAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTG CCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCC TTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGT GTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTG TGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCCG	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0100 a0003c0003t0003g0100	1	11	0.0909	389	c.-10 others(406): Show c.-10+1024_-10+1025insTGTGTGTGTGTGTCTGGCTAGCCTGTGT GTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGTG CCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGG CGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGC TAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGG GGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTA GCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCT GGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCCG TGGCTAGCCTG	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PIGQ_chr16_564968_589109	571109	C C	CTGGCTAG others(382): Show CTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTG TGTGTATGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGC TAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTG CCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGTGGGGGGGGGCTAGCC TTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGT GTGTGTCTGGCTAGCCTGTGTGTGTGTGTGGCTAGCCTGGCGCCTGTGTG TGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCCG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0311 a0001c0004t0004g0311	1	11	0.0909	389	c.-10 others(406): Show c.-10+1024_-10+1025insTGTGTGTGTGTGTCTGGCTAGCCTGTGT GTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGTG CCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGG CGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGC TAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGTGGGGG GGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTA GCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGGCTAGCCTGG CGCCTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCCG TGGCTAGCCTG	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PIGQ_chr16_564968_589109	571109	C C	CTGGCTAG others(382): Show CTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTG TGTGTATGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGC TAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTG CCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGTGTGGGGGGGCTAGCC TTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGT GTGTGTCTGGCTAGCCTGTGTGTGTGTGTGGCTAGCCTGGCGCCTGTGTG TGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCCG	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA20300.hp2 HG02615.hp2 NA20300.hp2	a0001 a0001	a0001c0004 a0001c0008 a0001c0004 a0001c0008	a0001c0004t0004 a0001c0008t0004 a0001c0004t0004 a0001c0008t0004	a0001c0004t0004g0312 a0001c0008t0004g0313 a0001c0004t0004g0312 a0001c0008t0004g0313	2	12	0.1667	389	c.-10 others(406): Show c.-10+1024_-10+1025insTGTGTGTGTGTGTCTGGCTAGCCTGTGT GTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGTG CCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGG CGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGC TAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGTGTGGG GGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTA GCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGGCTAGCCTGG CGCCTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCCG TGGCTAGCCTG	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PIGQ_chr16_564968_589109	571109	C C	CTGGCTAG others(382): Show CTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTG TGTGTATGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGC TAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTG CCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGTGTTGGGGGGCTAGCC TTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGT GTGTGTCTGGCTAGCCTGTGTGTGTGTGTGGCTAGCCTGGCGCCTGTGTG TGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCCG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0048 a0001c0004t0004g0048	1	11	0.0909	389	c.-10 others(406): Show c.-10+1024_-10+1025insTGTGTGTGTGTGTCTGGCTAGCCTGTGT GTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGTG CCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGG CGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGC TAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGTGTTGG GGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTA GCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGGCTAGCCTGG CGCCTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCCG TGGCTAGCCTG	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PLCB1_chr20_8127266_8889900	8662119	T T	TATATATA others(382): Show TATATATAATTATATATAATTATATATAATTATATAATTATATATAATTA TATATAATTATTTATTATATAATTATATATTATTTATTATATAATTATAT AATTATATATTATTTATTATATATTATATAATTATATAATTATATATTAT TTATTATATAATATATAATTATATATTATTTATTATATAATTATATATTA TTTATTACATAAGTATATATTATTTATTACATAAGTATATATCACTTATT ATATAATTGCATATAATTATTTATTATATAATTGCATATAATTATTTATT ATATAATTGCATATAATTATTTATTATATAATTGTATATAGTTATTTATT ATATAATTGTATATAGTTATTTATTATATAATTCTATATA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0001 a0001c0001t0002 a0001c0001t0010	a0001c0001t0001g0019 a0001c0001t0002g0056 a0001c0001t0010g0008 a0001c0001t0001g0019 a0001c0001t0002g0056 a0001c0001t0010g0008	3	27	0.1111	389	c.862 others(406): Show c.862+3417_862+3418insATATAATTATATATAATTATATATAATT ATATAATTATATATAATTATATATAATTATTTATTATATAATTATATATT ATTTATTATATAATTATATAATTATATATTATTTATTATATATTATATAA TTATATAATTATATATTATTTATTATATAATATATAATTATATATTATTT ATTATATAATTATATATTATTTATTACATAAGTATATATTATTTATTACA TAAGTATATATCACTTATTATATAATTGCATATAATTATTTATTATATAA TTGCATATAATTATTTATTATATAATTGCATATAATTATTTATTATATAA TTGTATATAGTTATTTATTATATAATTGTATATAGTTATTTATTATATAA TTCTATATAAT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLPP2_chr19_276043_296403	291612	G G	GGGGGGGA others(382): Show GGGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGG GAGGGCAGCAGGGGAGGGGGAGGAGGGGAGGGGCGGGGAGGGGAGGGGAG GAGGGAGGGGGAGGGGAGGAGGGAGGGGGGACGGCAGCGGCGGGCAGGGG AGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGAGGGGAGGGAGGG GAAGGGGAGGAGGGGGGGAGGGGAGGGGAGGAAGGCGGGGACGGCAGCGG CGGGCAGGGGAGCAGCGGGCGGGGCGGGGAGGAGGGGAGGGTTAGGGGCG GGGAGGGGAGGAGGGAGGGGGAGGGGAGGAGGGGCGGGGAGGGGAGAGGG GGGAGGGGAGGAGGGAGGGGAGGGGGGAGGGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	113	0.0088	389	c.-27 others(398): Show c.-277_-276insTCCCTCCTCCCCTCCCCCCTCCCCTCCCTCCTCCCC TCCCCCCTCTCCCCTCCCCGCCCCTCCTCCCCTCCCCCTCCCTCCTCCCC TCCCCGCCCCTAACCCTCCCCTCCTCCCCGCCCCGCCCGCTGCTCCCCTG CCCGCCGCTGCCGTCCCCGCCTTCCTCCCCTCCCCTCCCCCCCTCCTCCC CTTCCCCTCCCTCCCCTCCTCCCCGCCCCGCCCGCCGCTCCCCTGCCCGC CGCTCCCCTGCCCGCCGCTGCCGTCCCCCCTCCCTCCTCCCCTCCCCCTC CCTCCTCCCCTCCCCTCCCCGCCCCTCCCCTCCTCCCCCTCCCCTGCTGC CCTCCCCTCCCCGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTGCCGTCCC CCC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		210		chr19	TogoVar
PLPP2_chr19_276043_296403	291612	G G	GGGGGGGA others(382): Show GGGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGG GAGGGCAGCAGGGGAGGGGGAGGAGGGGAGGGGCGGGGAGGGGAGGGGAG GAGGGAGGGGGAGGGGAGGAGGGAGGGGGGACGGCAGCGGCGGGCAGGGG AGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGAGGGGAGGGAGGG GAAGGGGAGGAGGGGGGGAGGGGAGGGGAGGAAGGCGGGGACGGCAGCGG CGGGCAGGGGAGCAGCGGGCGGGGCGGGGAGGAGGGGAGGGTTAGGGGCG GGGAGGGGAGGAGGGAGGGGGAGGGGAGGAGGGGCGGGGAGGGGAGAGGG GGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0107	1	113	0.0088	389	c.-27 others(398): Show c.-277_-276insTCCCTCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCC TCCCCCCTCTCCCCTCCCCGCCCCTCCTCCCCTCCCCCTCCCTCCTCCCC TCCCCGCCCCTAACCCTCCCCTCCTCCCCGCCCCGCCCGCTGCTCCCCTG CCCGCCGCTGCCGTCCCCGCCTTCCTCCCCTCCCCTCCCCCCCTCCTCCC CTTCCCCTCCCTCCCCTCCTCCCCGCCCCGCCCGCCGCTCCCCTGCCCGC CGCTCCCCTGCCCGCCGCTGCCGTCCCCCCTCCCTCCTCCCCTCCCCCTC CCTCCTCCCCTCCCCTCCCCGCCCCTCCCCTCCTCCCCCTCCCCTGCTGC CCTCCCCTCCCCGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTGCCGTCCC CCC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		210		chr19	TogoVar
PLPP2_chr19_276043_296403	291612	G G	GGGGGGGA others(382): Show GGGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGG GAGGGCAGCAGGGGAGGGGGAGGAGGGGAGGGGCGGGGAGGGGAGGGGAG GAGGGAGGGGGAGGGGAGGAGGGAGGGGGGACGGCAGCGGCGGGCAGGGG AGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGAGGGGAGGGAGGG GAAGGGGAGGAGGGGGGGAGGGGAGGGGAGGAAGGCGGGGACGGCAGCGG CGGGCAGGGGAGCAGCGGGCGGGGCGGGGAGGAGGGGAGGGTTAGGGGCG GGGAGGGGAGGAGGGAGGGGGAGGGGAGGAGGGGCGGGGAGGGGAGAGGG GGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	113	0.0088	389	c.-27 others(398): Show c.-277_-276insTCCCCTCCCCCCTCCCCTCCCCCTCCCTCCTCCCCT CCCCCCCTCTCCCCTCCCCGCCCCTCCTCCCCTCCCCCTCCCTCCTCCCC TCCCCGCCCCTAACCCTCCCCTCCTCCCCGCCCCGCCCGCTGCTCCCCTG CCCGCCGCTGCCGTCCCCGCCTTCCTCCCCTCCCCTCCCCCCCTCCTCCC CTTCCCCTCCCTCCCCTCCTCCCCGCCCCGCCCGCCGCTCCCCTGCCCGC CGCTCCCCTGCCCGCCGCTGCCGTCCCCCCTCCCTCCTCCCCTCCCCCTC CCTCCTCCCCTCCCCTCCCCGCCCCTCCCCTCCTCCCCCTCCCCTGCTGC CCTCCCCTCCCCGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTGCCGTCCC CCC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		210		chr19	TogoVar
PTTG1IP_chr21_44844598_44878690	44863310	G G	GACACAGC others(382): Show GACACAGCCCACCACGGCCTCAGCAGCAGAGACACAGCCCACCACGGCCT CAGCAGCAGAGACACAGCCCACCACGGCCTCAGCAGCAGAGACACAGCCC ACCACGGCCTCAGCAGCAGAGACACAGCCCACCACGGCCTCAGCAGCAGA GACACAGCCCACCACGGCCTCAGCAGCAGAGACACAGCCCACCACGGCCT CAGCAGCAGAGACACAGCCCACCACGGCCTCAGCAGCAGAGACACAGCCC ACCACGGCCTCAGCAGCAGAGACACAGCCCACCACGGCCTCAGCAGCAGA GACACAGCCCACCACGGCCTCAGCAGCAGAGACACAGCCCACCACGGCCT CAGCAGCAGAGACACAGCCCACCACGGCCTCAGCAGCAGA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0093 a0001c0001t0008g0093	1	363	0.0028	389	c.169 others(406): Show c.169-2040_169-2039insTCTGCTGCTGAGGCCGTGGTGGGCTGTG TCTCTGCTGCTGAGGCCGTGGTGGGCTGTGTCTCTGCTGCTGAGGCCGTG GTGGGCTGTGTCTCTGCTGCTGAGGCCGTGGTGGGCTGTGTCTCTGCTGC TGAGGCCGTGGTGGGCTGTGTCTCTGCTGCTGAGGCCGTGGTGGGCTGTG TCTCTGCTGCTGAGGCCGTGGTGGGCTGTGTCTCTGCTGCTGAGGCCGTG GTGGGCTGTGTCTCTGCTGCTGAGGCCGTGGTGGGCTGTGTCTCTGCTGC TGAGGCCGTGGTGGGCTGTGTCTCTGCTGCTGAGGCCGTGGTGGGCTGTG TCTCTGCTGCTGAGGCCGTGGTGGGCTGTGTCTCTGCTGCTGAGGCCGTG GTGGGCTGTGT	PTTG1IP	ENSG00000183255.12	transcript	ENST00000330938.8	protein_coding	2/5			chr21	TogoVar
RAB11FIP3_chr16_420649_528011	458540	C C	CCACAGGG others(382): Show CCACAGGGCCTGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTG GGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCC TCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGT GATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAG GGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGCTCACAGGGCCTGGGGGG CCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGG TTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGC TCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0038 a0001c0001t0015g0038	1	269	0.0037	389	c.715 others(406): Show c.715-2849_715-2848insCCTTCCTCGGGTTCACCGATGCCCACAG GGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGG CCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGG TTCAGTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGC CCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGCTCACAGGGCCT GGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTC CTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAC CGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCTCACA GGGCCTGGGGG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RASA3_chr13_113972783_114137623	114099881	C C	CCCCCCCA others(382): Show CCCCCCCACAGCCCCCCACAGCAGCCCCCCACAGCCCCCCACAGCAGCCC CCCCACAGCCCCCACAGCAGCCCCCCCACAGCCCCCACAGCAGCCCCCCC ACAGCACCCCCCACAGCCCCCCACAGCAGCCCCCCACAGCACCCCCCACA GCCCCCCACAGCAGCCCCCCCACAGCCCCCACAGCAGCCCCCCCACAGCC CCCCCACAGCCCCCCACAGCAGCCCCCCCACAGCCCCCACAGCAGCCCCC CCACAGCCCCCACAGCAGCCCCCCCACAGCCCCCCCACAGCCCCCCCGCA GCCCCCCACAGCCCCCCCACAGCAGCCCCCCCACAGCCCCCCACAGCCCC CCACAGCCCCCCACAGCAGCCCCCCTGCAGCCCCCCACAG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	56	0.0179	389	c.56- others(406): Show c.56-26045_56-26044insCTGTGGGGGGCTGCAGGGGGGCTGCTGT GGGGGGCTGTGGGGGGCTGTGGGGGGCTGTGGGGGGGCTGCTGTGGGGGG GCTGTGGGGGGCTGCGGGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGCTG TGGGGGCTGTGGGGGGGCTGCTGTGGGGGCTGTGGGGGGGCTGCTGTGGG GGGCTGTGGGGGGGCTGTGGGGGGGCTGCTGTGGGGGCTGTGGGGGGGCT GCTGTGGGGGGCTGTGGGGGGTGCTGTGGGGGGCTGCTGTGGGGGGCTGT GGGGGGTGCTGTGGGGGGGCTGCTGTGGGGGCTGTGGGGGGGCTGCTGTG GGGGCTGTGGGGGGGCTGCTGTGGGGGGCTGTGGGGGGCTGCTGTGGGGG GCTGTGGGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RNF139_chr8_124469880_124493618	124483108	T T	TATTATTA others(382): Show TATTATTAAATATATATATATTTAAAAATATATATATTAAAAATATATAT ATTTAAATATATATATTTTTAAATATGTATATTTAAATTATATAATTTAA ATATATATTAATATACATATTTTAATATATATAATTTAATATATATCTTT AAATATATATATATTTAAAGATATATATTAAATTATATATATTAAAATAT GTATATTAATATATATTTAAATTATATAATTTAAATATACATATTTAAAA ATATATATATTTAAATATATATATTTTTAATATATATATTTTTAAATATA TATATATTTATATATATATTTTTATATATATATTTATATATATATTTTTA TATATATATATTTATATATATATTTTTAAATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0002 a0001c0002t0003g0002	1	364	0.0027	389	c.182 others(406): Show c.182-2723_182-2722insATTATTAAATATATATATATTTAAAAAT ATATATATTAAAAATATATATATTTAAATATATATATTTTTAAATATGTA TATTTAAATTATATAATTTAAATATATATTAATATACATATTTTAATATA TATAATTTAATATATATCTTTAAATATATATATATTTAAAGATATATATT AAATTATATATATTAAAATATGTATATTAATATATATTTAAATTATATAA TTTAAATATACATATTTAAAAATATATATATTTAAATATATATATTTTTA ATATATATATTTTTAAATATATATATATTTATATATATATTTTTATATAT ATATTTATATATATATTTTTATATATATATATTTATATATATATTTTTAA ATATATATATA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1			chr8	TogoVar
RTN1_chr14_59590983_59875776	59750591	T T	TATATCTA others(382): Show TATATCTATAATATATATATTATATCTATAATATATAATATATCTATAAT ATATATATTATATCTATAATATATAATATATCTATAATATATATATTATA TCTATAATATATAATATATCTATAATATATATATTATATCTATAATATAT AATATATCTATAATATATATATTATATCTATAATATATAATATATCTATA ATATATAATATATCTATAATATATATATTATATATATAATATATAATATA TTATATATATAATATATAATATATTATATATATAATATATAATATATTAT ATCTATAATATATTATATGTAATATATATATGTTATATCTATAATATATA TTATATCTATAATATATAATATATTATATCTATAAATATA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	91	0.0110	389	c.242 others(406): Show c.242-4111_242-4110insTATATTTATAGATATAATATATTATATA TTATAGATATAATATATATTATAGATATAACATATATATATTACATATAA TATATTATAGATATAATATATTATATATTATATATATAATATATTATATA TTATATATATAATATATTATATATTATATATATAATATATATATTATAGA TATATTATATATTATAGATATATTATATATTATAGATATAATATATATAT TATAGATATATTATATATTATAGATATAATATATATATTATAGATATATT ATATATTATAGATATAATATATATATTATAGATATATTATATATTATAGA TATAATATATATATTATAGATATATTATATATTATAGATATAATATATAT ATTATAGATAT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RTN1_chr14_59590983_59875776	59750591	T T	TATATCTA others(382): Show TATATCTATAATATATATATTATATCTATAATATATAATATATCTATAAT ATATATATTATATCTATAATATATAATATATCTATAATATATATATTATA TCTATAATATATAATATATCTATAATATATATATTATATCTATAATATAT AATATATCTATAATATATATATTATATCTATAATATATAATATATCTATA ATATATAATATATCTATAATATATATATTATATATATAATATATAATATA TTATATATATAATATATAATATATTATATCTATAATATATTATATGTAAT ATATATATGTTATATCTATAATATATATTATATCTATAATATATAATATA TTATATCTATAATATATAATATATTATATCTATAAATATA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02809.hp2 HG02896.hp1 others(5): Show HG01433.hp1 HG02809.hp2 HG02896.hp1 HG02922.hp2 HG02976.hp2 HG03209.hp1 HG06807.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 others(5): Show a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0059 a0001c0001t0001g0079 a0001c0003t0001g0072 a0001c0003t0001g0101 a0001c0003t0001g0106	8	98	0.0816	389	c.242 others(406): Show c.242-4111_242-4110insTATATTTATAGATATAATATATTATATA TTATAGATATAATATATTATATATTATAGATATAATATATATTATAGATA TAACATATATATATTACATATAATATATTATAGATATAATATATTATATA TTATATATATAATATATTATATATTATATATATAATATATATATTATAGA TATATTATATATTATAGATATATTATATATTATAGATATAATATATATAT TATAGATATATTATATATTATAGATATAATATATATATTATAGATATATT ATATATTATAGATATAATATATATATTATAGATATATTATATATTATAGA TATAATATATATATTATAGATATATTATATATTATAGATATAATATATAT ATTATAGATAT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGGGGAGG others(382): Show GGGGGAGGGAGGGGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGGA GGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGGAGGAGGAGGGA GGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGGGG AGGAGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGAAGGGGGAGAAGAAGG AGAAGAAGGAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGGAGGAGAAG GAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGGAGGAGGA GGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGAAGGAGGAGGAGGAGAAGG AGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 NA21309.hp1 HG00733.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0306 a0001c0002t0009g0308 a0001c0002t0009g0306 a0001c0002t0009g0308	2	3	0.6667	389	c.807 others(406): Show c.807-1376_807-1375insTTCTCCTCCTCCTTCTCCTCCTCCTCCT TCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTTCTCCTCC TCCTCCTTCTCCTCCTCCTCCTCCTCCTCCTCCTTCTCCTCCTCCTCCTT CTCCTCCTCCTCCTTCTCCTCCTTCCTCTTCCTCTTCTTCCTCTTCCTCT TCTCCTTCTTCTCCTTCTTCTCCCCCTTCTCCCCCTCCCTCCTCCCCCTC CCCCTCCCTCCTCCCCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCT CCCTCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTCCCTCCC CCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCC CCTCCCTCCCC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGGGGAGG others(382): Show GGGGGAGGGAGGGGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGGA GGGGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGGAGGAGGAGGGA GGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGGGG AGGAGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGAAGGGGGAGAAGAAGG AGAAGAAGGAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGGAGGAGAAG GAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGGAGGAGGA GGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGAAGGAGGAGGAGGAGAAGG AGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01952.hp2 HG01243.hp1 HG01952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0305 a0001c0002t0009g0307 a0001c0002t0009g0305 a0001c0002t0009g0307	2	3	0.6667	389	c.807 others(406): Show c.807-1376_807-1375insTTCTCCTCCTCCTTCTCCTCCTCCTCCT TCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTTCTCCTCC TCCTCCTTCTCCTCCTCCTCCTCCTCCTCCTCCTTCTCCTCCTCCTCCTT CTCCTCCTCCTCCTTCTCCTCCTTCCTCTTCCTCTTCTTCCTCTTCCTCT TCTCCTTCTTCTCCTTCTTCTCCCCCTTCTCCCCCTCCCTCCTCCCCCTC CCCCTCCCTCCTCCCCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCT CCCTCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTCCCTCCC CCTCCCTCCCCCTCCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCC CCTCCCTCCCC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
SAMD12_chr8_118372984_118626963	118469545	T T	TATAACAT others(382): Show TATAACATATAATATATAATATATATTATATATAATATATTATATATAAT ATATTATATATTATATATAATATATATTATATATTATATATAATATAATA TATATTATATGTTATATATAATATATATTATATGTTATATATAATATATA TTATATGTTATATATAATATATATTATATGTTATATATAATATATATTAT ATATTATATATAATATATAATATATATTACATATAATATATAATATATAT TATATATTATATATTATATATTATATATTATATGTAATATATATTATATA TTATATATAATATATAAATATATATTATATATATTTAATATATATTTTAT ATATAAATATATATTATATATATAATATATATTTTATATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02965.hp1 HG02572.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0040 a0001c0001t0003g0055 a0001c0001t0003g0040 a0001c0001t0003g0055	2	30	0.0667	389	c.193 others(408): Show c.193-29585_193-29584insTATATAAAATATATATTATATATATA ATATATATTTATATATAAAATATATATTAAATATATATAATATATATTTA TATATTATATATAATATATAATATATATTACATATAATATATAATATATA ATATATAATATATAATATATATTATATATTATATGTAATATATATTATAT ATTATATATAATATATAATATATATTATATATAACATATAATATATATTA TATATAACATATAATATATATTATATATAACATATAATATATATTATATA TAACATATAATATATATTATATTATATATAATATATAATATATATTATAT ATAATATATAATATATTATATATAATATATTATATATAATATATATTATA TATTATATGTTAT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SBNO2_chr19_1102638_1179268	1137362	C C	CGGGGTGC others(382): Show CGGGGTGCGGTGAGGGGAGGCTCGGGCCGGGGTGCGGTTGGGGGAGGCTG GCACTGGGGTGCAGTGGAGGAGAGGCTCGGGCTGGGGTGCAGTGGGGGGA GGCTCGGGCTGGGGGGGTGAGGCTCGGGCTGGGGTGCGGTGGGGGGAGGT TCGGGCTGGGGTGCGGTGGGGGGAGGCTCGGGCTGGGGTGCGGTGGGGGG AGGCTCGGGCTGGGGTGCGGTGGGGGGAGGCTCGGGCTGGGGTGCAGTGG GGGGAGGCTCGGGCTGGGGTGCAGTGGGGGGAGGCTCGGGCTGGGGTGCA GTGGGGGGAGGCTCAGGCTGGGGGGAGGCTCGGGCTGGGGTGCGGTGGGG GGAGGCTCGGGCTGGGGTGCGGTGGGGGGAGGCTCGGGCT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0189 a0002c0008t0001g0189	1	202	0.0050	389	c.280 others(406): Show c.280-9598_280-9597insAGCCCGAGCCTCCCCCCACCGCACCCCA GCCCGAGCCTCCCCCCACCGCACCCCAGCCCGAGCCTCCCCCCAGCCTGA GCCTCCCCCCACTGCACCCCAGCCCGAGCCTCCCCCCACTGCACCCCAGC CCGAGCCTCCCCCCACTGCACCCCAGCCCGAGCCTCCCCCCACCGCACCC CAGCCCGAGCCTCCCCCCACCGCACCCCAGCCCGAGCCTCCCCCCACCGC ACCCCAGCCCGAACCTCCCCCCACCGCACCCCAGCCCGAGCCTCACCCCC CCAGCCCGAGCCTCCCCCCACTGCACCCCAGCCCGAGCCTCTCCTCCACT GCACCCCAGTGCCAGCCTCCCCCAACCGCACCCCGGCCCGAGCCTCCCCT CACCGCACCCC	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	4/31			chr19	TogoVar
SIGIRR_chr11_400716_419999	401670	A A	ACACCCGG others(382): Show ACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACC CCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGG CCCGCTCACACCCGGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCC CGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCT CACACCCGGCCCCGCTCACAACCCGCCCCGCTCACACCCGGCCCCGCTCA CACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCC GCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCAGCC CCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0072 a0003c0005t0001g0072	1	234	0.0043	389	c.42 others(400): Show c.4225_*4226insGGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGT GAGCGGGGCTGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAG CGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGG CGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTTGTGAGCGGGGCCG GGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTG TGAGCGGGGCCGGGGGTGAGCGGGGCCGGGGGTGAGCGGGGCCGGGTGTG AGCGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGG GGCCGGGGTGAGCGGGGCCGGGGGTGAGCGGGTCGGGTGTGAGCGGGGCC GGGTG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4045		chr11	TogoVar
SLC12A6_chr15_34224784_34342781	34310174	A A	AGTGTGTG others(382): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCCCTGTGTCCAGGCTGGTG AACTCCTGGGCTCAAGTGTGTGTGTGTGTCCCCGTATCCAGGCTGGTGTT GAACTCCTGGGCTCAAGTGTGTGTGTGTGTGTGTCCCCGTGTCCAGGCTG GTGTTGAACTCCTGGGCTCAAGTGTGTGTGTGTGTCCCTGTGTCCAGGCT GGTGTTGAACTCCTGGGCTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTCCCCATGTCCAGGCTGGTGTTGAACTCCTGGGCTCAAGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTATGTGTGTGTCCCCGTG GCCAGGCTGGTGTTGAACTCCTGGGCTCAAGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0032 a0001c0001t0005g0032	1	105	0.0095	389	c.271 others(408): Show c.271+26235_271+26236insACACACACACTTGAGCCCAGGAGTTC AACACCAGCCTGGCCACGGGGACACACACATACATACACACACACACACA CACACACACACACACACACACACACTTGAGCCCAGGAGTTCAACACCAGC CTGGACATGGGGACACACACACACACACACACACACACACACACGAGCCC AGGAGTTCAACACCAGCCTGGACACAGGGACACACACACACACTTGAGCC CAGGAGTTCAACACCAGCCTGGACACGGGGACACACACACACACACACTT GAGCCCAGGAGTTCAACACCAGCCTGGATACGGGGACACACACACACACT TGAGCCCAGGAGTTCACCAGCCTGGACACAGGGACACACACACACACACA CACACACACACAC	SLC12A6	ENSG00000140199.13	transcript	ENST00000354181.8	protein_coding	2/25			chr15	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGC others(382): Show CGGGGGGCGCGGGAGGGGGAGGAGGCGGGGGGGCGGCAGGGGGGAGGCGG GGGGGCGGGAGGGGAGGAGGCGGGGAGGCGGGAGGGGGAGGAGGCGGGGA GGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGG CGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGAGGCGGGGGGGCGGGA GGGGGCCGGAGGGGGAGGAGGCGGGGGGGGCGGGGGGGCGGGAGGGGCGG GAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGGGAGG GGAAGGAGGCGGGGGGGCGGGGGGGAGGGAGGGGAAGGAGGCGGGGGGGC GGGAGGGGGAGGACGCGGGGGGGGCGGGGGGGGCGGGAGG	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	25	0.0400	389	c.914 others(408): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCCGC GTCCTCCCCCTCCCGCCCCCCCGCCTCCTTCCCCTCCCTCCCCCCCGCCC CCCCGCCTCCTTCCCCTCCCGCCCCCCCGCCTCCCCCCTCCCGCCCCCCC GCCTCCTCCCCCTCCCGCCCCTCCCGCCCCCCCGCCCCCCCCGCCTCCTC CCCCTCCGGCCCCCTCCCGCCCCCCCGCCTCCCCCTCCCGCCCCCCCGCC TCCTCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCGCCTC CTCCCCCTCCCGCCTCCCCGCCTCCTCCCCCTCCCGCCTCCCCGCCTCCT CCCCTCCCGCCCCCCCGCCTCCCCCCTGCCGCCCCCCCGCCTCCTCCCCC TCCCGCGCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC25A17_chr22_40764630_40824346	40769671	T T	TGAGAAAA others(382): Show TGAGAAAAATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGG CGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCC CGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGC CGGGATGGCCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0042 a0001c0001t0008g0042	1	324	0.0031	389	c.11 others(400): Show c.1162_*1163insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGGCC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATTT TTCTC	SLC25A17	ENSG00000100372.15	transcript	ENST00000435456.7	protein_coding	9/9	1162		chr22	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(382): Show AAATATAAATATATTATATATATTATATATAATATAAATATATTATATAT ATTATATATAAATATAAATATATTATATATATTATATATAAATATAAATA TATTATATATTATATAAATATAAATATATTATATATTATATAAATATAAA TATATTATATATTATATATAAATATAAATATATTATATATTATATATAAT ATAAATATATTATATATATTATATATAATATAAATATATTATATATATTA TATATAATATAAATATATTAATATATTATATATAATATAAATATATTATA TATAATATAAATATATTATATATATTATATATAATATAAATATCATTATA TATATATATATAATATAAATATATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0325 a0002c0002t0001g0325	1	132	0.0076	389	c.-70 others(406): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATATATATATAATGATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATTTATATTATATATAATATATTAATATAT TTATATTATATATAATATATATAATATATTTATATTATATATAATATATA TAATATATTTATATTATATATAATATATAATATATTTATATTTATATATA ATATATAATATATTTATATTTATATAATATATAATATATTTATATTTATA TAATATATAATATATTTATATTTATATATAATATATATAATATATTTATA TTTATATATAATATATATAATATATTTATATTATATATAATATATATAAT ATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC38A10_chr17_81239811_81300307	81249360	G G	GAAGGAGG others(382): Show GAAGGAGGGAAGAGGAGGAAGGAGGGAAGAGGAGGAAGGAGGGAAGAGGA GGAAGGAGGGAAGAGGAGGAAGGAGGGAAGAGGAGGAAGGAGGGAAGAGG AGGAAGGAGGGAAGAGGAGGAGGAGGGAGGGAAGAGGAGCAGGAGGGAGG GAAGAGGAGGATGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGA AGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGCAGGAGGGAGGGAAGAGGA GGATGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAGAAGGAGG GAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGA GGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0013 a0003c0006t0001g0013	1	94	0.0106	389	c.206 others(408): Show c.2065+2132_2065+2133insTCTCCCTCCTCTTCCCTCCCTCCTTC TCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTC CCTCCTCTTCCCTCCCTCCTTCTCCCTCCCTCCTTCTCCCTCCTCTTCCC TCCCTCCTTCATCCTCCTCTTCCCTCCCTCCTGCTCCTCTTCCCTCCCTC CTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCT TCATCCTCCTCTTCCCTCCCTCCTGCTCCTCTTCCCTCCCTCCTCCTCCT CTTCCCTCCTTCCTCCTCTTCCCTCCTTCCTCCTCTTCCCTCCTTCCTCC TCTTCCCTCCTTCCTCCTCTTCCCTCCTTCCTCCTCTTCCCTCCTTCCTC CTCTTCCCTCCTT	SLC38A10	ENSG00000157637.13	transcript	ENST00000374759.8	protein_coding	14/15			chr17	TogoVar
SMYD3_chr1_245744347_246512279	246009972	G G	GCCCAGCT others(382): Show GCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGG CCAGGCTGGTCTTGAACTGACCTCATGATCTGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAACCACTGTGCCCGGCCAAGATCATGTTT ATATAAAGTTTGTTATAAAGTTCTCTTGGTATTATCCCCAATAACAAAAA CTTTAAGAAAAAAAAAACAGTATTTTTGGCCGGGCACAGTGGCTCATGCC TATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATTTGAACTCA GGAGTTCAAGACCAGCCTAGGCAACATGGTGAAATCCATCTCTACTAAAA ATACAAAAATTAGCCGGGCATGGTGGCACACGGCTGTAAT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0024 a0001c0002t0002g0024	1	69	0.0145	389	c.532 others(408): Show c.532-80036_532-80035insATTACAGCCGTGTGCCACCATGCCCG GCTAATTTTTGTATTTTTAGTAGAGATGGATTTCACCATGTTGCCTAGGC TGGTCTTGAACTCCTGAGTTCAAATGATCCACCCGCCTCGGCCTCCCAAA GTGCTGGGATTATAGGCATGAGCCACTGTGCCCGGCCAAAAATACTGTTT TTTTTTTCTTAAAGTTTTTGTTATTGGGGATAATACCAAGAGAACTTTAT AACAAACTTTATATAAACATGATCTTGGCCGGGCACAGTGGTTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCATGAGGTCAGTT CAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACA AAAATTAGCTGGG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246009972	G G	GCCCAGCT others(382): Show GCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGG CCAGGCTGGTCTTGAACTGACCTCATGATCTGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCAAGATCATGTTT ATATAAAGTTTGTTATAAAGTTCTCTTGGTATTATCCCCAATAACAAAAA CTTTAAGAAAAAAAAAACAGTATTTTTGGCCGGGCACAGTGGCTCATGCC TATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATTTGAACTCA GGAGTTCAAGACCAGCCTAGGCAACATGGTGAAATCCATCTCTACTAAAA ATACAAAAATTAGCCGGGCATGGTGGCACACGGCTGTAAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01496.hp1 HG02273.hp1 others(1): Show HG00597.hp1 HG01496.hp1 HG02273.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0016 a0001c0001t0002g0087 a0001c0001t0002g0090 others(1): Show a0001c0001t0002g0016 a0001c0001t0002g0087 a0001c0001t0002g0090 a0001c0002t0002g0052	4	72	0.0556	389	c.532 others(408): Show c.532-80036_532-80035insATTACAGCCGTGTGCCACCATGCCCG GCTAATTTTTGTATTTTTAGTAGAGATGGATTTCACCATGTTGCCTAGGC TGGTCTTGAACTCCTGAGTTCAAATGATCCACCCGCCTCGGCCTCCCAAA GTGCTGGGATTATAGGCATGAGCCACTGTGCCCGGCCAAAAATACTGTTT TTTTTTTCTTAAAGTTTTTGTTATTGGGGATAATACCAAGAGAACTTTAT AACAAACTTTATATAAACATGATCTTGGCCGGGCACAGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCATGAGGTCAGTT CAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACA AAAATTAGCTGGG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246009972	G G	GCCCAGCT others(382): Show GCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGG CCAGGCTGGTCTTGAACTGACCTCATGATCTGCCTGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAACCACTGTGCCCGGCCAAGATCATGTTT ATATAAAGTTTGTTATAAAGTTCTCTTGGTATTATCCCCAATAACAAAAA CTTTAAGAAAAAAAAAACAGTATTTTTGGCCGGGCACAGTGGCTCATGCC TATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATTTGAACTCA GGAGTTCAAGACCAGCCTAGGCAACATGGTGAAATCCATCTCTACTAAAA ATACAAAAATTAGCCGGGCATGGTGGCACACGGCTGTAAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0114 a0002c0003t0001g0114	1	69	0.0145	389	c.532 others(408): Show c.532-80036_532-80035insATTACAGCCGTGTGCCACCATGCCCG GCTAATTTTTGTATTTTTAGTAGAGATGGATTTCACCATGTTGCCTAGGC TGGTCTTGAACTCCTGAGTTCAAATGATCCACCCGCCTCGGCCTCCCAAA GTGCTGGGATTATAGGCATGAGCCACTGTGCCCGGCCAAAAATACTGTTT TTTTTTTCTTAAAGTTTTTGTTATTGGGGATAATACCAAGAGAACTTTAT AACAAACTTTATATAAACATGATCTTGGCCGGGCACAGTGGTTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGGTCAGTT CAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACA AAAATTAGCTGGG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246009972	G G	GCCCAGCT others(382): Show GCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGG TCAGGCTGGTCTTGAACTGACCTCATGATCTGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAACCACTGTGCCCGGCCAAGATCATGTTT ATATAAAGTTTGTTATAAAGTTCTCTTGGTATTATCCCCAATAACAAAAA CTTTAAGAAAAAAAAAACAGTATTTTTGGCCGGGCACAGTGGCTCATGCC TATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATTTGAACTCA GGAGTTCAAGACCAGCCTAGGCAACATGGTGAAATCCATCTCTACTAAAA ATACAAAAATTAGCCGGGCATGGTGGCACACGGCTGTAAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	69	0.0145	389	c.532 others(408): Show c.532-80036_532-80035insATTACAGCCGTGTGCCACCATGCCCG GCTAATTTTTGTATTTTTAGTAGAGATGGATTTCACCATGTTGCCTAGGC TGGTCTTGAACTCCTGAGTTCAAATGATCCACCCGCCTCGGCCTCCCAAA GTGCTGGGATTATAGGCATGAGCCACTGTGCCCGGCCAAAAATACTGTTT TTTTTTTCTTAAAGTTTTTGTTATTGGGGATAATACCAAGAGAACTTTAT AACAAACTTTATATAAACATGATCTTGGCCGGGCACAGTGGTTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCATGAGGTCAGTT CAAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACA AAAATTAGCTGGG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246009972	G G	GCCCAGCT others(382): Show GCCCAGCTAATTTTTGTGTTTTTAGTAGAGACGAGGTTTCACCATGTTGG CCAGGCTGGTCTTGAACTGACCTCATGATCTGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAACCACTGTGCCCGGCCAAGATCATGTTT ATATAAAGTTTGTTATAAAGTTCTCTTGGTATTATCCCCAATAACAAAAA CTTTAAGAAAAAAAAAACAGTATTTTTGGCCGGGCACAGTGGCTCATGCC TATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATTTGAACTCA GGAGTTCAAGACCAGCCTAGGCAACATGGTGAAATCCATCTCTACTAAAA ATACAAAAATTAGCCGGGCATGGTGGCACACGGCTGTAAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01109.hp2 HG01433.hp1 others(10): Show HG00423.hp1 HG01109.hp2 HG01433.hp1 HG02056.hp2 HG02132.hp2 HG02280.hp1 HG02300.hp1 HG02965.hp2 HG04228.hp1 NA18747.hp2 NA18963.hp1 NA18971.hp1 NA19057.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0001c0009 a0001c0012 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0006t0001 a0001c0009t0001 a0001c0012t0002 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001	a0001c0001t0001g0023 a0001c0001t0001g0045 a0001c0001t0002g0051 others(10): Show a0001c0001t0001g0023 a0001c0001t0001g0045 a0001c0001t0002g0051 a0001c0002t0001g0022 a0001c0002t0001g0086 a0001c0002t0002g0010 a0001c0002t0002g0048 a0001c0006t0001g0081 a0001c0009t0001g0002 a0001c0012t0002g0057 a0002c0003t0001g0109 a0002c0003t0002g0110 a0002c0004t0001g0132	13	81	0.1605	389	c.532 others(408): Show c.532-80036_532-80035insATTACAGCCGTGTGCCACCATGCCCG GCTAATTTTTGTATTTTTAGTAGAGATGGATTTCACCATGTTGCCTAGGC TGGTCTTGAACTCCTGAGTTCAAATGATCCACCCGCCTCGGCCTCCCAAA GTGCTGGGATTATAGGCATGAGCCACTGTGCCCGGCCAAAAATACTGTTT TTTTTTTCTTAAAGTTTTTGTTATTGGGGATAATACCAAGAGAACTTTAT AACAAACTTTATATAAACATGATCTTGGCCGGGCACAGTGGTTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCATGAGGTCAGTT CAAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACTAAAAACACA AAAATTAGCTGGG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246009972	G G	GCCCAGCT others(382): Show GCCCAGCTAATTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTGG CCAGGCTGGTCTTGAACTGACCTCATGATCTGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAACCACTGTGCCCGGCCAAGATCATGTTT ATATAAAGTTTGTTATAAAGTTCTCTTGGTATTATCCCCAATAACAAAAA CTTTAAGAAAAAAAAAACAGTATTTTTGGCCGGGCACAGTGGCTCATGCC TATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATTTGAACTCA GGAGTTCAAGACCAGCCTAGGCAACATGGTGAAATCCATCTCTACTAAAA ATACAAAAATTAGCCGGGCATGGTGGCACACGGCTGTAAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00408.hp2 others(42): Show HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00621.hp2 HG00733.hp1 HG00738.hp1 HG01081.hp2 HG01243.hp2 HG01496.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp2 HG01981.hp1 HG02071.hp1 HG02109.hp1 HG02145.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp2 HG02717.hp2 HG02809.hp2 HG02895.hp2 HG02922.hp1 HG02970.hp1 HG03130.hp1 HG03209.hp1 HG03471.hp2 HG03579.hp1 HG03831.hp1 HG04115.hp1 HG04115.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18971.hp2 NA18984.hp1 NA18984.hp2 NA19000.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA20129.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0006 others(6): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0002c0004 a0002c0005 a0002c0017 a0003c0015 a0005c0013	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0006t0001 a0001c0006t0003 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0005t0001 a0002c0005t0002 a0002c0017t0001 a0003c0015t0002 a0005c0013t0002	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0044 others(42): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0002g0030 a0001c0001t0002g0049 a0001c0001t0002g0059 a0001c0001t0002g0069 a0001c0001t0002g0076 a0001c0002t0001g0017 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0036 a0001c0002t0001g0056 a0001c0002t0001g0062 a0001c0002t0001g0074 a0001c0002t0002g0041 a0001c0002t0002g0061 a0001c0006t0001g0060 a0001c0006t0001g0068 a0001c0006t0003g0001 a0002c0003t0001g0099 a0002c0003t0001g0100 a0002c0003t0001g0101 a0002c0003t0001g0103 a0002c0003t0001g0121 a0002c0003t0001g0148 a0002c0003t0002g0102 a0002c0003t0002g0124 a0002c0003t0002g0125 a0002c0003t0002g0131 a0002c0004t0001g0138 a0002c0004t0001g0144 a0002c0005t0001g0115 a0002c0005t0001g0123 a0002c0005t0002g0130 a0002c0005t0002g0133 a0002c0017t0001g0139 a0003c0015t0002g0094 a0005c0013t0002g0050	45	113	0.3982	389	c.532 others(408): Show c.532-80036_532-80035insATTACAGCCGTGTGCCACCATGCCCG GCTAATTTTTGTATTTTTAGTAGAGATGGATTTCACCATGTTGCCTAGGC TGGTCTTGAACTCCTGAGTTCAAATGATCCACCCGCCTCGGCCTCCCAAA GTGCTGGGATTATAGGCATGAGCCACTGTGCCCGGCCAAAAATACTGTTT TTTTTTTCTTAAAGTTTTTGTTATTGGGGATAATACCAAGAGAACTTTAT AACAAACTTTATATAAACATGATCTTGGCCGGGCACAGTGGTTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCATGAGGTCAGTT CAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAACACA AAAATTAGCTGGG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNTG2_chr2_945849_1372613	965358	C C	CTTGGACC others(382): Show CTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCA ATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCT GGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTC CTCCTCCTGGTCCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGA CCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTC CTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCC CAGTCCTCCTCCTGGTCCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCC TTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0161 a0002c0003t0001g0161	1	106	0.0094	389	c.72+ others(406): Show c.72+14291_72+14292insTGGACCCCAATCCTCCTCCTGGTCCCCA GTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT TGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAAT CCTCCTCCTGGTCCCCAGTCCTCCTCCTGGTCCCCAATCCTCCTCCTGGT CCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTC CTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACC CCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTGGTCCCCAATCCTCCTC CTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAG TCCTCCTCCTT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	965358	C C	CTTGGACC others(382): Show CTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCA ATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCT GGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTC CTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTGGT CCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTC CTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCC CAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTC CTGGTCCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG01192.hp1 NA19084.hp1 HG01192.hp1 NA19084.hp1	a0002 a0009 a0002 a0009	a0002c0005 a0009c0012 a0002c0005 a0009c0012	a0002c0005t0001 a0009c0012t0001 a0002c0005t0001 a0009c0012t0001	a0002c0005t0001g0164 a0009c0012t0001g0163 a0002c0005t0001g0164 a0009c0012t0001g0163	2	107	0.0187	389	c.72+ others(406): Show c.72+14291_72+14292insTGGACCCCAATCCTCCTCCTGGTCCCCA GTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT TGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAAT CCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGG TCCCCAGTCCTCCTCCTGGTCCCCAATCCTCCTCCTGGTCCCCAGTCCTC CTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACC CCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCT CCTGGTCCCCAGTCCTCCTCCTGGTCCCCAATCCTCCTCCTGGTCCCCAG TCCTCCTCCTT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(382): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGGAGGGG GGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGG GAGGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGAGGGGA GGGGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGAG GGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0211 a0002c0002t0002g0211	1	6	0.1667	389	c.138 others(408): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCC CTCCCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTC CCCTCCCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCTC CCCCTCCCCTCCCCCCCCTCCCCCTCCCCTCCCCCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTT CCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SUFU_chr10_102498972_102638535	102637473	T T	TATTATAT others(382): Show TATTATATATTATATAACTATATATTATATATATATATTATATATTATAT AACTATATATTATATATATATATTATATATTATATAACATATATTATATA TATATATTATATATTATATAACTATATATTATATATATATATTATATATT ATATAACTATATATTATATATATATTATATATTATATAACTATATATTAT ATATAATATATATATTATATATTATATATAATATATATATTATATATTAT ATAACTATATATTATATATAATATATATATTATATATTATATAACTATAT ATTATATATAATATATATATTATATAACTATATATTATATATAATATATA TATTATATATTATATAACTATATATTATATATAATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0030 a0001c0002t0002g0030	1	149	0.0067	389	c.73 others(400): Show c.7318_*7319insATTATATATTATATAACTATATATTATATATATA TATTATATATTATATAACTATATATTATATATATATATTATATATTATAT AACATATATTATATATATATATTATATATTATATAACTATATATTATATA TATATATTATATATTATATAACTATATATTATATATATATTATATATTAT ATAACTATATATTATATATAATATATATATTATATATTATATATAATATA TATATTATATATTATATAACTATATATTATATATAATATATATATTATAT ATTATATAACTATATATTATATATAATATATATATTATATAACTATATAT TATATATAATATATATATTATATATTATATAACTATATATTATATATAAT ATATA	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3939		chr10	TogoVar
SYK_chr9_90796819_90903549	90884880	T T	TACACATA others(382): Show TACACATATGTGTACATATGTGTATATATACATATATATACACATATATA TGTATATATACACATATGTGAATATGTATATATGTGTTATATATACACAT ATGTGTATATGTATATATACATATATACACATATGTGTATATACACATAT ATACATATACACATATGTGTATATACATATATACATATACACATATGTGT ATATATACATATATACATATACACATATGTGTATATATACATATATACAT ATACACCTATGTGTATATATAACACATATATACACCTATGTGTATATATA ACACATATATACACCTATGTGTATATATAACACATATATACACCTATGTG TATATATACATATATACATATACACATATGTGTATATATA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0042 a0001c0005t0042	a0001c0005t0042g0058 a0001c0005t0042g0058	1	220	0.0045	389	c.158 others(408): Show c.1582-2866_1582-2865insCATATGTGTACATATGTGTATATATA CATATATATACACATATATATGTATATATACACATATGTGAATATGTATA TATGTGTTATATATACACATATGTGTATATGTATATATACATATATACAC ATATGTGTATATACACATATATACATATACACATATGTGTATATACATAT ATACATATACACATATGTGTATATATACATATATACATATACACATATGT GTATATATACATATATACATATACACCTATGTGTATATATAACACATATA TACACCTATGTGTATATATAACACATATATACACCTATGTGTATATATAA CACATATATACACCTATGTGTATATATACATATATACATATACACATATG TGTATATATAACA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYNE2_chr14_63848004_64231433	64038286	G G	GGGCCGGG others(382): Show GGGCCGGGAAGAGGCGCTCCTCACTTCCTAGATGAGATGGCGGCCGGGCA GAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCA CCTCCCAGACGATGGGCGGCCCGGCAGAGACGCTCCTCACTTCCCAGACG GGGCGGTTGCCAGGCGGAGGGTCTCCTCACTTCTCAGACGGGGCGGCCGG GCAGAGACGCTCCTCATCTCCCAGACGGGGTCCCAGCCGGGCAGAGGCGC TCCTCACATCCCAGACGGGGCGGCGGGGCAGAGACGCTCCCCACATCTCA GACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGACGGGATGGT GGCCGGGAAGAGGCGCTCCTCACTTCCTAGATGGGATGGT	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA21309.hp2 HG04184.hp2 NA21309.hp2	a0001 a0073 a0001 a0073	a0001c0018 a0073c0063 a0001c0018 a0073c0063	a0001c0018t0001 a0073c0063t0004 a0001c0018t0001 a0073c0063t0004	a0001c0018t0001g0065 a0073c0063t0004g0030 a0001c0018t0001g0065 a0073c0063t0004g0030	2	43	0.0465	389	c.722 others(408): Show c.7221+7059_7221+7060insGCTCCTCACTTCCCAGACGGGGCGGT TGCCAGGCGGAGGGTCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGA CGCTCCTCATCTCCCAGACGGGGTCCCAGCCGGGCAGAGGCGCTCCTCAC ATCCCAGACGGGGCGGCGGGGCAGAGACGCTCCCCACATCTCAGACGATG GGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGACGGGATGGTGGCCGGG AAGAGGCGCTCCTCACTTCCTAGATGGGATGGTGGCCGGGAAGAGGCGCT CCTCACTTCCTAGATGAGATGGCGGCCGGGCAGAGACGCTCCTCACTTTC CAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACCTCCCAGACGATGGGCG GCCCGGCAGAGAC	SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding	45/115		INFO_REALIGN_3_PRIME	chr14	TogoVar

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