Joint Open Genome and Omics Platform (JoGo)

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Snpeff genename

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Snpeff haplotype class

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
MPPED1_chr22_43407014_43512848	43475478	G G	GGTGATAA others(476): Show GGTGATAATGGTGATGGTGGTGATGGTGATGATGGTGATGCTGATGGTAT AGTGATGATGATGGTGATAATGGGGATGATGGTGATGGTGATTATGGTGA TGTTGATAATGGTGGTGATGGTGGCAATGTTGGTGATGATGGTAATGATA ATGGTGGTGGGAATGATGATGGTAAGGTAATGACAATGATGAGGGTGATG GTGGTGGTGGTATGATCATAATAGTGAGGGTGGTGATGGTGATGGTGATG ATGATGATTGCGATGGTGGTGATGATGGTGATGATGATGGTTGTGGTGAT GGTGGTGGTGTGATGATGGTGAGGGTAGTGATGGTGATAATGATGGTGAT GATGGTGGTGTGATGATGGTGAGGGTAGTGATGGTGATAATGATGGTGAT GATGGTGGTGTGATGATGGTGAGGGTAGTGATAGTGATAATGATGGTGAT GATGGTGGTGATGCTGATGGTGATGATGATGATA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0200 a0001c0003t0002g0200	1	2	0.5000	483	c.632 others(498): Show c.632+522_632+523insAATGGTGATGGTGGTGATGGTGATGATGGT GATGCTGATGGTATAGTGATGATGATGGTGATAATGGGGATGATGGTGAT GGTGATTATGGTGATGTTGATAATGGTGGTGATGGTGGCAATGTTGGTGA TGATGGTAATGATAATGGTGGTGGGAATGATGATGGTAAGGTAATGACAA TGATGAGGGTGATGGTGGTGGTGGTATGATCATAATAGTGAGGGTGGTGA TGGTGATGGTGATGATGATGATTGCGATGGTGGTGATGATGGTGATGATG ATGGTTGTGGTGATGGTGGTGGTGTGATGATGGTGAGGGTAGTGATGGTG ATAATGATGGTGATGATGGTGGTGTGATGATGGTGAGGGTAGTGATGGTG ATAATGATGGTGATGATGGTGGTGTGATGATGGTGAGGGTAGTGATAGTG ATAATGATGGTGATGATGGTGGTGATGCTGATGGTGATGATGATGATAGT GAT		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43499858	A A	AGGTGGTG others(476): Show AGGTGGTGGTGGTGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTG ATGGTGATGGAGGTGGCGGTGGTGATGGTGGAGGTGGTGGTGGTGGTGAT GGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGG TGATGGTGGAGGTGGTGGTGGTGGTGGTGATGGAGGTGGTGATGGGGGTG GTGGTGGTGATGGTGATGGAGGTGGCGGTGGTGATGGTGGAGGTGGTGGT GGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGG TGGCGGTGGTGATGGTGGAGGTGGTGGTGGTGGTGGTGATGGAGGTGGTG ATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGGTGATGGTGGA GGTGGTGGTGGTGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGA TGGTGATGGAGGTGGCGGTGGTGATGGTGGAGGT	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0145 a0001c0001t0004g0145	1	125	0.0080	483	c.748 others(500): Show c.748+1524_748+1525insGTGATGGAGGTGGTGATGGGGGTGGTGG TGGTGATGGTGATGGAGGTGGCGGTGGTGATGGTGGAGGTGGTGGTGGTG GTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGT GGTGGTGATGGTGGAGGTGGTGGTGGTGGTGGTGATGGAGGTGGTGATGG GGGTGGTGGTGGTGATGGTGATGGAGGTGGCGGTGGTGATGGTGGAGGTG GTGGTGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGAT GGAGGTGGCGGTGGTGATGGTGGAGGTGGTGGTGGTGGTGGTGATGGAGG TGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGGTGATG GTGGAGGTGGTGGTGGTGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGT GGTGATGGTGATGGAGGTGGCGGTGGTGATGGTGGAGGTGGTGGTGGTGG TGGTG		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MUC4_chr3_195741771_195816929	195784031	C C	CGGTGACA others(476): Show CGGTGACAGGAAGAGAGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCG GTGACAGGAAGAGAGGTGGCGTGACCTGTGGATACTGAGGAAGTGTCGGT GACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGCTGGTGA CAGGAAGAGGGGTGGTGTCCCCTGTGGATAATGAGGAAGCATCGGTGACA TGAAGAGCGGTGGCGTGACCTGTGGATACTGAGGAAGCGTCGGTGACAAG AAGAGAGGTGGCGTGACCTGTGGATACTGAGGAAGCGTCGGTGACAAGAA GAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGA GGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCTGGTGACAGGAAGAGG GGTGTCCTGACCTGTGGATGCTGAGGAAGTATCGGTGACAGGAAGCGGCA TGGTGTCACCAGTGGATGATGCTGAGGAAAGGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03540.hp1 HG03540.hp1	a0092 a0092	a0092c0102 a0092c0102	a0092c0102t0002 a0092c0102t0002	a0092c0102t0002g0182 a0092c0102t0002g0182	1	243	0.0041	483	c.754 others(492): Show c.7548_7549insAGCCTTTCCTCAGCATCATCCACTGGTGACACCATG CCGCTTCCTGTCACCGATACTTCCTCAGCATCCACAGGTCAGGACACCCC TCTTCCTGTCACCAGCCTTTCCTCAGTATCCACAGGTGACACCACGCCTC TTCCTGTCACTAGCCCTTCCTCAGCATCCACAGGTCACGCCACCCCTCTT CTTGTCACCGACGCTTCCTCAGTATCCACAGGTCACGCCACCTCTCTTCT TGTCACCGACGCTTCCTCAGTATCCACAGGTCACGCCACCGCTCTTCATG TCACCGATGCTTCCTCATTATCCACAGGGGACACCACCCCTCTTCCTGTC ACCAGCCCTTCCTCAGCATCCACAGGTGACACCACCCCTCTTCCTGTCAC CGACACTTCCTCAGTATCCACAGGTCACGCCACCTCTCTTCCTGTCACCG ACACTTCCTCAGCATCCACAGGTCACGCCACCTCTCTTCCTGTCACC	p.Thr others(498): Show p.Thr2516_Asp2517insSerLeuSerSerAlaSerSerThrGlyAsp ThrMetProLeuProValThrAspThrSerSerAlaSerThrGlyGlnAs pThrProLeuProValThrSerLeuSerSerValSerThrGlyAspThrT hrProLeuProValThrSerProSerSerAlaSerThrGlyHisAlaThr ProLeuLeuValThrAspAlaSerSerValSerThrGlyHisAlaThrSe rLeuLeuValThrAspAlaSerSerValSerThrGlyHisAlaThrAlaL euHisValThrAspAlaSerSerLeuSerThrGlyAspThrThrProLeu ProValThrSerProSerSerAlaSerThrGlyAspThrThrProLeuPr oValThrAspThrSerSerValSerThrGlyHisAlaThrSerLeuProV alThrAspThrSerSerAlaSerThrGlyHisAlaThrSerLeuProVal Thr	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	7660/16756	7548/16239	2516/5412			chr3	TogoVar
MVP_chr16_29815462_29853021	29843546	A A	AAGGGAGG others(476): Show AAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAA GGGAGGAAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGTGAAGGGAGTGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGG AGGGAGTGAAGGGAGTGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGA GTGAAGGGAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGGGAAGGGAAGGG AGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGGGAGGGAGGGAGGGAGGGA GGGAGGGAGTGAAGGGAGTGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAG TGAAGGGAGTGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGTGAAG GGAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAAGGGAGGGAGGAAGG GAGGAAGGGAGGGAGGGGAGGGAGGGAGGAAGGG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	115	0.0087	483	c.163 others(500): Show c.1635-940_1635-939insAAGGGAGGAAGGGAGGGAGGGAGGGAGG GAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGAAGGGAGGGA GGGAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGGGAGGAAGGGAG GGAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGGGAGGAAGGGAGG GAGGGAGGGAGGGAGTGAAGGGAGGGAGGGAGGGAGGAAGGGAGGAAGGG AGGGAAGGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGGGAGG GAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGGGAGGGAGGG AGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGGGAGGAAGGGAGGGAGGGA GGGAGGGAGTGAAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAA GGGAGGGAGGAAGGGAGGAAGGGAGGGAGGGGAGGGAGGGAGGAAGGGAG GGAGG		MVP	ENSG00000013364.19	transcript	ENST00000357402.10	protein_coding	10/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
MYO1F_chr19_8515778_8582442	8543915	G G	GTGGTGCT others(476): Show GTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGCTGGT GGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTG CTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGT GGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGCTGGTGGTGCTGGTGG TGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGGTGCTGGTG GTGGTGGTGGTGATGGTGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGGT GGTGCTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGATGGTGG TGGTGCTGGTGGTGCTGGTGGTGGTGGTGGTGGTGCTGGTGCTGGTGGTG GTGATGGTGGTGGTGCTGGTGGTGCTGGTGGTGC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	307	0.0033	483	c.152 others(500): Show c.1524+381_1524+382insGCACCACCAGCACCACCAGCACCACCAC CATCACCACCACCAGCACCAGCACCACCACCACCACCACCAGCACCACCA GCACCACCACCATCACCACCACCACCACCAGCACCACCACCACCACCACC AGCACCACCACCACCACCACCAGCACCACCAGCACCACCACCATCACCAC CACCACCACCAGCACCACCACCACCACCACCAGCACCACCACCACCACCA CCACCACCACCAGCACCACCAGCACCACCACCATCACCACCACCACCACC ACCACCACCAGCACCACCACCACCACCACCACCACCACCACCACCACCAC CACCAGCACCACCACCATCACCACCACCACCACCACCACCACCACCACCA CCACCACCACCACCAGCACCACCACCACCACCACCACCACCACCACCACC AGCACCACCAGCACCACCACCATCACCACCACCACCACCACCACCACCAG CACCA		MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27						chr19	TogoVar
NLRP5_chr19_55994726_56066810	56036058	C C	CTTTTTTT others(476): Show CTTTTTTTTTTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGCC CAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCATTGCAAGCCCCACCTCC TGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTAAGTAGCTAGGACTACA GGCGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTTTAAGTAGAG ACAGGGTTTCACCAGGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTG ATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCAC TGCGCCTGGCTGAGATTCTTTCATTCAATAACGACAGATGCTTGATTCTG CGTATAGTACATGTTCCAGGGATGTGCTGATGAATGAAACGAGATTCTTT GATTCAATAACGACAGATGCTTGATTTTGCATGTAGTACTACGACATGTT CCTGGGACATGCTGATGAATGAATTGAGATTCTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03540.hp2 HG02886.hp2 HG03540.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0303 a0003c0008t0001g0304 a0003c0008t0001g0303 a0003c0008t0001g0304	2	137	0.0146	483	c.261 others(502): Show c.2616-1945_2616-1944insTTGGAGACAGAGTCTTGCTCTGTTGC CCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCATTGCAAGCCCCACCTC CTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTAAGTAGCTAGGACTAC AGGCGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTTTAAGTAGA GACAGGGTTTCACCAGGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGT GATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCA CTGCGCCTGGCTGAGATTCTTTCATTCAATAACGACAGATGCTTGATTCT GCGTATAGTACATGTTCCAGGGATGTGCTGATGAATGAAACGAGATTCTT TGATTCAATAACGACAGATGCTTGATTTTGCATGTAGTACTACGACATGT TCCTGGGACATGCTGATGAATGAATTGAGATTCTTTTTTTTTTTTTTTTT TTTTTTT		NLRP5	ENSG00000171487.16	transcript	ENST00000390649.8	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr19	TogoVar
NT5DC3_chr12_103767310_103846234	103768582	G G	GGAGGGAG others(476): Show GGAGGGAGAGGGAAAGGGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGA GGGAGAGGGAGGGGTAGGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGG GGGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGG GACAGGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGG GGAGAGGGGGGAGAGAGAGGGAGGGGGCGGGAGGGGAGGGAGGGGGAGGG AGAGGGACAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAG GGAGAGGGAGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGATGGGGGAG GGGGAGGGAGAGGGATGGGGGAGGGAGAGGGACAGGGGGAGGGAGAAGGA GAGGGAGAGGGGGAGGGAGAGGGAGAGAGAGGGAGAGGGAGAGAGAGGGA AAGGGAGTGAGAGAGAGAGGGAGAGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0238 a0001c0001t0083g0238	1	381	0.0026	483	c.92 others(494): Show c.9246_*9247insTCTCCCTCTCTCTCCCTCTCTCTCTCACTCCCTT TCCCTCTCTCTCCCTCTCCCTCTCTCTCCCTCTCCCTCCCCCTCTCCCTC TCCTTCTCCCTCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCTCCCC CTCCCCCATCTCTCTCCCTCCCCCCTCCCTCCCTCTCCCTCTCCCTCTCC CTCCCTCTCCCTCCCTCTCCCTCCCTCTCCCTCCCTCTCCCTGTCCCTCT CCCTCCCCCTCCCTCCCCTCCCGCCCCCTCCCTCTCTCTCCCCCCTCTCC CCCTCCCCTCCCTCTCCCTCTCTCCCTCCCTCTCTCTCCCTCTCCCTGTC CCTCTCCCTCCCTCTCTCTCCCTCTCCCTGTCCCTGTCCCTCTCCCTCCC CCCTCCCCCTCCCTCTCTGTCCCCCCTCTCCCCCTACCCCTCCCTCTCCC TCCCTCCCTGTCCCCCCTCTCCCCCTCCCTCCCCCTTTCCCTCTCCCTC		NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding					3727		chr12	TogoVar
OR11H4_chr14_20234286_20249349	20237811	A A	AGTATATA others(476): Show AGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATAT ATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATAT ATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATAT ATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATAT ATAGTATATATACTATATGTACTATATAGTACATATAGTATATATACTAT ATGTACTATATATACTATAGAGTATATATACTATATATAGTATATATACT ATATAGTACATACAGTATATATAGTATATATAGTATATAGTACATATAGT ATATATAGTATATATAGTATATAGTATATATTTTATAGTATATATAGTAT ATATACTATATAGTATATATTATATAGTATATATACTATAAAGTACATAA TTTATATATTACATATAATACATAATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0226 a0001c0003t0001g0226	1	301	0.0033	483	c.-15 others(494): Show c.-1532_-1531insGTATATATAGTATATATAGTATATATACTCTATA GTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATA GTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATA GTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATA GTATATATAGTATATATAGTATATATACTATATGTACTATATAGTACATA TAGTATATATACTATATGTACTATATATACTATAGAGTATATATACTATA TATAGTATATATACTATATAGTACATACAGTATATATAGTATATATAGTA TATAGTACATATAGTATATATAGTATATATAGTATATAGTATATATTTTA TAGTATATATAGTATATATACTATATAGTATATATTATATAGTATATATA CTATAAAGTACATAATTTATATATTACATATAATACATAATATATATTT		OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding					1474		chr14	TogoVar
OR11H4_chr14_20234286_20249349	20237811	A A	AGTATATA others(476): Show AGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATAT ATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATAT ATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATAT ATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATAT ATAGTATATATACTATATGTACTATATAGTACATATAGTATATATACTAT ATGTACTATATATACTATAGAGTATATATACTATATATAGTATATATACT ATATAGTACATATAGTATATATAGTATATATAGTATATAGTACATATAGT ATATATAGTATATATAGTATATAGTATATATTTTATAGTATATATAGTAT ATATACTATATAGTATATATTATATAGTATATATACTATAAAGTACATAA TTTATATATTACATATAATACATAATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp1 NA18994.hp1 NA18970.hp1 NA18994.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0003 a0001c0003t0001g0003	2	302	0.0066	483	c.-15 others(494): Show c.-1532_-1531insGTATATATAGTATATATAGTATATATACTCTATA GTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATA GTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATA GTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATA GTATATATAGTATATATAGTATATATACTATATGTACTATATAGTACATA TAGTATATATACTATATGTACTATATATACTATAGAGTATATATACTATA TATAGTATATATACTATATAGTACATATAGTATATATAGTATATATAGTA TATAGTACATATAGTATATATAGTATATATAGTATATAGTATATATTTTA TAGTATATATAGTATATATACTATATAGTATATATTATATAGTATATATA CTATAAAGTACATAATTTATATATTACATATAATACATAATATATATTT		OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding					1474		chr14	TogoVar
OSGIN1_chr16_83948240_83971332	83951962	C C	CCCTCCCT others(476): Show CCCTCCCTCTTCCCTTCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTCCC TGCCTCCCTCCCCCTCCCTCCTTCCCTCCCTGCCTTCCTCCCCCTTTCCC TCCCTCCCTCCTTCCCTCCTTCCTCCCTTCCTCCTTCCCTCCCTCCTCCC TTCCTCCTTCCCTCCCTCCTCCCTTCCTCCTTCCCTCCCTCCTCCTTTCC TCCTCCCCTCCATCCATTCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTG CCTTCCACCCTCCTTCCCTCCCTCCTCCCTTCCTCCCTCCTTCCCTCCGT CCTCCCTTCCTCCCTCCCTCCCTACTTCCCTCCCTCCCTGCCTCCCTCCT TCCCTCCCTCCCTGCCTCCCTCCTTTCCTCCCTCCCTCCTTCCCTCCCTC CCTGCCTTCCTCCCTCCTTCCTTCCCTCCCTCCCTGCCTCCCTCCTTCCC TCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0002 a0001c0001t0004g0002	1	61	0.0164	483	c.-14 others(494): Show c.-1441_-1440insCCTCCCTCTTCCCTTCCTCCTTCCCTCCCTCCCT CCTTCCCTCCCTCCCTGCCTCCCTCCCCCTCCCTCCTTCCCTCCCTGCCT TCCTCCCCCTTTCCCTCCCTCCCTCCTTCCCTCCTTCCTCCCTTCCTCCT TCCCTCCCTCCTCCCTTCCTCCTTCCCTCCCTCCTCCCTTCCTCCTTCCC TCCCTCCTCCTTTCCTCCTCCCCTCCATCCATTCCTCCTTCCCTCCCTCC CTCCTTCCCTCCCTGCCTTCCACCCTCCTTCCCTCCCTCCTCCCTTCCTC CCTCCTTCCCTCCGTCCTCCCTTCCTCCCTCCCTCCCTACTTCCCTCCCT CCCTGCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTTCCTCCCTCC CTCCTTCCCTCCCTCCCTGCCTTCCTCCCTCCTTCCTTCCCTCCCTCCCT GCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTG		OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding					1277		chr16	TogoVar
OSGIN1_chr16_83948240_83971332	83951962	C C	CCCTCCCT others(476): Show CCCTCCCTCTTCCCTTCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTCCC TGCCTCCCTCCCCCTCCCTCCTTCCCTCCCTGCCTTCCTCCCCCTTTCCC TCCCTCCCTCCTTCCCTCCTTCCTCCCTTCCTCCTTCCCTCCCTCCTCCC TTCCTCCTTCCCTCCCTCCTCCCTTCCTCCTTCCCTCCCTCCTCCTTTCC TCCTCCCCTCCATCCCTTCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTG CCTTCCACCCTCCTTCCCTCCCTCCTCCCTTCCTCCCTCCTTCCCTCCGT CCTCCCTTCCTCCCTCCCTCCCTACTTCCCTCCCTCCCTGCCTCCCTCCT TCCCTCCCTCCCTGCCTCCCTCCTTTCCTCCCTCCCTCCTTCCCTCCCTC CCTGCCTTCCTCCCTCCTTCCTTCCCTCCCTCCCTGCCTCCCTCCTTCCC TCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(166): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG03239.hp2 HG03490.hp1 HG03492.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18943.hp2 NA18944.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18955.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19056.hp1 NA19057.hp1 NA19064.hp1 NA19065.hp1 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19088.hp1 NA19089.hp1 NA20300.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0009 a0001c0013 a0001c0014 a0001c0015 a0002c0005 a0003c0006 a0004c0008	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(16): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0003t0001 a0001c0003t0004 a0001c0004t0001 a0001c0004t0004 a0001c0009t0001 a0001c0013t0001 a0001c0014t0001 a0001c0015t0004 a0002c0005t0001 a0002c0005t0004 a0003c0006t0004 a0004c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(116): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0004g0002 a0001c0001t0004g0010 a0001c0001t0004g0021 a0001c0001t0004g0025 a0001c0001t0004g0046 a0001c0001t0004g0121 a0001c0001t0006g0001 a0001c0001t0006g0018 a0001c0001t0006g0059 a0001c0001t0006g0128 a0001c0001t0009g0087 a0001c0002t0001g0001 a0001c0002t0001g0005 a0001c0002t0001g0054 a0001c0002t0001g0056 a0001c0002t0001g0070 a0001c0002t0001g0080 a0001c0002t0001g0101 a0001c0002t0001g0123 a0001c0002t0001g0138 a0001c0002t0003g0204 a0001c0002t0004g0023 a0001c0002t0004g0058 a0001c0002t0004g0061 a0001c0002t0004g0065 a0001c0002t0004g0095 a0001c0002t0004g0097 a0001c0002t0004g0132 a0001c0003t0001g0114 a0001c0003t0001g0127 a0001c0003t0001g0129 a0001c0003t0004g0017 a0001c0003t0004g0019 a0001c0003t0004g0024 a0001c0003t0004g0045 a0001c0003t0004g0051 a0001c0003t0004g0060 a0001c0003t0004g0063 a0001c0003t0004g0066 a0001c0003t0004g0067 a0001c0003t0004g0069 a0001c0003t0004g0102 a0001c0003t0004g0112 a0001c0003t0004g0117 a0001c0003t0004g0143 a0001c0004t0001g0006 a0001c0004t0001g0048 a0001c0004t0001g0076 a0001c0004t0001g0130 a0001c0004t0001g0136 a0001c0004t0001g0142 a0001c0004t0004g0006 a0001c0004t0004g0124 a0001c0009t0001g0001 a0001c0013t0001g0092 a0001c0014t0001g0001 a0001c0015t0004g0064 a0002c0005t0001g0001 a0002c0005t0001g0004 a0002c0005t0001g0082 a0002c0005t0001g0088 a0002c0005t0004g0001 a0003c0006t0004g0022 a0003c0006t0004g0062 a0003c0006t0004g0068 a0004c0008t0001g0131	169	229	0.7380	483	c.-14 others(494): Show c.-1441_-1440insCCTCCCTCTTCCCTTCCTCCTTCCCTCCCTCCCT CCTTCCCTCCCTCCCTGCCTCCCTCCCCCTCCCTCCTTCCCTCCCTGCCT TCCTCCCCCTTTCCCTCCCTCCCTCCTTCCCTCCTTCCTCCCTTCCTCCT TCCCTCCCTCCTCCCTTCCTCCTTCCCTCCCTCCTCCCTTCCTCCTTCCC TCCCTCCTCCTTTCCTCCTCCCCTCCATCCCTTCCTCCTTCCCTCCCTCC CTCCTTCCCTCCCTGCCTTCCACCCTCCTTCCCTCCCTCCTCCCTTCCTC CCTCCTTCCCTCCGTCCTCCCTTCCTCCCTCCCTCCCTACTTCCCTCCCT CCCTGCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTTCCTCCCTCC CTCCTTCCCTCCCTCCCTGCCTTCCTCCCTCCTTCCTTCCCTCCCTCCCT GCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTG		OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding					1277		chr16	TogoVar
OSGIN1_chr16_83948240_83971332	83951962	C C	CCCTCCCT others(476): Show CCCTCCCTCTTCCCTTCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTCCC TGCCTCCCTCCCCCTCCCTCCTTCCCTCCCTGCCTTCCTCCCCCTTTCCC TCCCTCCCTCCTTCCCTCCTTCCTCCCTTCCTCCTTCCCTCCCTCCTCCC TTCCTCCTTCCCTCCCTCCTCCCTTCCTCCTTCCCTCCCTCCTCCTTTCC TCCTCCCCTCCATCCCTTCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTG CCTTCCACCCTCCTTCCCTCCCTCCTCCCTTCCTCCCTCCTTCCCTCCGT CCTCCCTTCCTCCTTCCCTCCCTACTTCCCTCCCTCCCTGCCTCCCTCCT TCCCTCCCTCCCTGCCTCCCTCCTTTCCTCCCTCCCTCCTTCCCTCCCTC CCTGCCTTCCTCCCTCCTTCCTTCCCTCCCTCCCTGCCTCCCTCCTTCCC TCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 NA20129.hp1 HG02572.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0020	2	62	0.0323	483	c.-14 others(494): Show c.-1441_-1440insCCTCCCTCTTCCCTTCCTCCTTCCCTCCCTCCCT CCTTCCCTCCCTCCCTGCCTCCCTCCCCCTCCCTCCTTCCCTCCCTGCCT TCCTCCCCCTTTCCCTCCCTCCCTCCTTCCCTCCTTCCTCCCTTCCTCCT TCCCTCCCTCCTCCCTTCCTCCTTCCCTCCCTCCTCCCTTCCTCCTTCCC TCCCTCCTCCTTTCCTCCTCCCCTCCATCCCTTCCTCCTTCCCTCCCTCC CTCCTTCCCTCCCTGCCTTCCACCCTCCTTCCCTCCCTCCTCCCTTCCTC CCTCCTTCCCTCCGTCCTCCCTTCCTCCTTCCCTCCCTACTTCCCTCCCT CCCTGCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTTCCTCCCTCC CTCCTTCCCTCCCTCCCTGCCTTCCTCCCTCCTTCCTTCCCTCCCTCCCT GCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTG		OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding					1277		chr16	TogoVar
OSGIN1_chr16_83948240_83971332	83951962	C C	CCCTCCCT others(476): Show CCCTCCCTCTTCCCTTCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTCCC TGCCTCCCTCCCCCTCCCTCCTTCCCTCCCTGCCTTCCTCCCCCTTTCCC TCCCTCCCTCCTTCCCTCCTTCCTCCCTTCCTCCTTCCCTCCCTCCTCCC TTCCTCCTTCCCTCCCTCCTCCCTTCCTCCTTCCCTCCCTCCTCCTTTCC TCCTCCCCTCCATCCTTCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTGC CTTCCACCCTCCTTCCCTCCTCCTCCCTTCCTCCCTCCTTCCCTCCGTCC TCCCTTTCCTCCTCCCTCCCTACTTCCCTCCCTCCCCCTGCCTCCCTCCT TCCCTCCCTCCCTGCCTCCCTCCTTTCCTCCCTCCCTCCTTCCCTCCCTC CCTGCCTTCCTCCCTCCTTCCTTCCCTCCCTCCCTGCCTCCCTCCTTCCC TCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0006 a0001c0004t0001g0006	1	61	0.0164	483	c.-14 others(494): Show c.-1441_-1440insCCTCCCTCTTCCCTTCCTCCTTCCCTCCCTCCCT CCTTCCCTCCCTCCCTGCCTCCCTCCCCCTCCCTCCTTCCCTCCCTGCCT TCCTCCCCCTTTCCCTCCCTCCCTCCTTCCCTCCTTCCTCCCTTCCTCCT TCCCTCCCTCCTCCCTTCCTCCTTCCCTCCCTCCTCCCTTCCTCCTTCCC TCCCTCCTCCTTTCCTCCTCCCCTCCATCCTTCCTCCTTCCCTCCCTCCC TCCTTCCCTCCCTGCCTTCCACCCTCCTTCCCTCCTCCTCCCTTCCTCCC TCCTTCCCTCCGTCCTCCCTTTCCTCCTCCCTCCCTACTTCCCTCCCTCC CCCTGCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTTCCTCCCTCC CTCCTTCCCTCCCTCCCTGCCTTCCTCCCTCCTTCCTTCCCTCCCTCCCT GCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTG		OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding					1277		chr16	TogoVar
OSGIN1_chr16_83948240_83971332	83951963	C C	CCTCCCTC others(476): Show CCTCCCTCTTCCCTTCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTCCCT GCCCTCCTCCCCTCTCCCTCCTTCCCTCCCTGCCTTCCTCCCCTTTCCCT CCCTCCTCCTTCCCTCCTTCCTCCCTTCCTCCTCTCCCTCCCTCCTCCCT TCCTCCTTCCCTCCCTCCTCCCTTCCTCCTTCCCTCCCTCCTCCTTTCCT CCTCCCCTCCATCCCTTCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTGC CTTCCACCCTCCTTCCCTCCCTCCTCCCTTCCCTCCCTCCTTCCCTCCGT CCTCCCTTCCTCCCTCCCTCCCTACTTCCCTCCCTCCCTGCCTCCCTCCT TCCCTCCCTCCCTGCCTCCCTCCTTTCCCTCCCTCCCTCCTTCCTCCCTC CCTGCCTTCCTCCCTCCTTCCTTCCCTCCCTCCCTGCCTCCTCCTCTCCC TCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0116 a0001c0001t0010g0116	1	348	0.0029	483	c.-14 others(494): Show c.-1440_-1439insCTCCCTCTTCCCTTCCTCCTTCCCTCCCTCCCTC CTTCCCTCCCTCCCTGCCCTCCTCCCCTCTCCCTCCTTCCCTCCCTGCCT TCCTCCCCTTTCCCTCCCTCCTCCTTCCCTCCTTCCTCCCTTCCTCCTCT CCCTCCCTCCTCCCTTCCTCCTTCCCTCCCTCCTCCCTTCCTCCTTCCCT CCCTCCTCCTTTCCTCCTCCCCTCCATCCCTTCCTCCTTCCCTCCCTCCC TCCTTCCCTCCCTGCCTTCCACCCTCCTTCCCTCCCTCCTCCCTTCCCTC CCTCCTTCCCTCCGTCCTCCCTTCCTCCCTCCCTCCCTACTTCCCTCCCT CCCTGCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTTCCCTCCCTC CCTCCTTCCTCCCTCCCTGCCTTCCTCCCTCCTTCCTTCCCTCCCTCCCT GCCTCCTCCTCTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTG		OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding					1276		chr16	TogoVar
PAM16_chr16_4335251_4356321	4344609	A A	AGAGGAGG others(476): Show AGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGAGGGGGTTCCGT GAGAGGAGGGGGTTCCGTGAGAGGAGGGGATTGTGTGAGAGGAGGGGGTT CTGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGG GGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCCGTGAGAGG AGGGGATTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGA GAGGAGGGGATTGTGTGAGAGAAGGGGGTTCTGTGAGAGGAGGGGACTGT GTGAGAGGGGGTTCCGTGAGAGGAGGGGATTGTGTGAGAGGAGGGGACTG TGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGG ATTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGAGGA GGGGACTGTGTGAGAGGAGGGGGTTCCGTGAGAG	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0196 a0002c0002t0001g0196	1	203	0.0049	483	c.4-1 others(496): Show c.4-1319_4-1318insCTCTCACGGAACCCCCTCCTCTCACACAGTCC CCTCCTCTCACAGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACACA ATCCCCTCCTCTCACGGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCA CACAGTCCCCTCCTCTCACACAATCCCCTCCTCTCACGGAACCCCCTCTC ACACAGTCCCCTCCTCTCACAGAACCCCCTTCTCTCACACAATCCCCTCC TCTCACAGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACACAATCCC CTCCTCTCACGGAACCCCCTCCTCTCACACAGTCCCCTCCTCTCACAGAA CCCCCTCCTCTCACAGAACCCCCTCCTCTCACACAGTCCCCTCCTCTCAC AGAACCCCCTCCTCTCACACAATCCCCTCCTCTCACGGAACCCCCTCCTC TCACGGAACCCCCTCTCACAGAACCCCCTCCTCTCACAGAACCCCCTCCT C		PAM16	ENSG00000217930.8	transcript	ENST00000318059.8	protein_coding	1/4						chr16	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(476): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATG TATTACATATATGTAATACATATATAACATGTATTACATATATGTAATAC ATATATAACATGTATTACATATATGTATTACATATATGTAATACATATAT AACATGTATTACATATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0002 a0001c0001t0021g0002	1	122	0.0082	483	c.70 others(494): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATGTATTACATATATGTAATACATATATAACATGTATT ACATATATGTAATACATATATAACATGTATTACATATATGTATTACATAT ATGTAATACATATATAACATGTATTACATATATGTAATACATATATAAC		PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding					3166		chr20	TogoVar
PCDH11Y_chrY_4995296_5747224	5525214	T T	TGGGAGGA others(476): Show TGGGAGGAGGAGGAGTGGGAGGAGGAGGGGGGAGGAGGCGGAGGGGGAGG AGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGG AGGGGGCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGG AGGAGGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGGAGG AGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAG GAGGCGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGA CGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGG GGGAGGAGGAGGGGGAGGAGGAGGAGTGGGGAGGAGGAGGGGGCAGGAGG AGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGAGG AGGAGGAGGGGGAGGAGGGGGGAGGAGGAGGAGG	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	10	0.1000	483	c.305 others(504): Show c.3052+23989_3052+23990insGAGGAGGCGGAGGGGGAGGAGGAG GGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGGAGGGG GCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAG GGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAG GAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGC GGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGG AGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGGGGGAG GAGGAGGGGGAGGAGGAGGAGTGGGGAGGAGGAGGGGGCAGGAGGAGGAG TGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAG GAGGGGGAGGAGGGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGTGGGAGG AGGAGGGGG		PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	4/5					INFO_REALIGN_3_PRIME	chrY	TogoVar
PIAS4_chr19_4002736_4044386	4011871	G G	GGTGTGTG others(476): Show GGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGG AGCTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGA AGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGG AGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTG GAGCTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGG AAGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTG GAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGGGTGT GGAGGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTG TGGAGGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGT GTGGAGGTGTGTGGGGTGTGTGGGGTGTGGAGGT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0217 a0001c0003t0004g0217	1	253	0.0040	483	c.28- others(498): Show c.28-1052_28-1051insGTGTGTGGGGTGTGGAGGTGTGTGGGGTGT GGAGGTGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGTGGGGTGTG GAGGTGTGTTTGGTGTGGAAGTGTGTGGGGTGTGGAGGTGTGTGGGGTGT GGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTG TGGAGGTGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGTGGGGTGT GGAGGTGTGTTTGGTGTGGAAGTGTGTGGGGTGTGGAGGTGTGTGGGGTG TGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGT GTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGGG TGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGG GTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGTGGGGTGTGGA GGT		PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10						chr19	TogoVar
PLCXD1_chrX_276381_308356	280962	G G	GGGCCGTG others(476): Show GGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAAGGGGGGCCGTGCA GGGGGAAGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCGGAGGGG GGTACGTGCAGGGGGCAGCGGAGGCCGTGCAGGGGGAGGGGAGGCCGTGC AGGGGGAAGGGGGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAAGG GAGGCCGTGCAGGCAGAGGGGAAGACGTGCAGGGGGAGGGGAGGCCGTGC AGGCGGAGGGGGGTACGTGCAGGGGGCAGCGGAGGCCGTGCAGGGGGAAG GGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAGGGGAGGCCGTG CAGGGGGAAGGGGGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAAG GGAGGCCGTGCAGGCAGAGGGGAAGACGTGCAGGCGGAGCGGGGGCCGTG CAGGCGGAGGGGGGTACGTGCAGGGGGCAGCGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02559.hp2 HG02280.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0074 a0001c0001t0020g0075 a0001c0001t0020g0074 a0001c0001t0020g0075	2	168	0.0119	483	c.-74 others(492): Show c.-744_-743insGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAA GGGGGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAAGGGAGGCCGT GCAGGCGGAGGGGGGTACGTGCAGGGGGCAGCGGAGGCCGTGCAGGGGGA GGGGAGGCCGTGCAGGGGGAAGGGGGGCCGTGCAGGGGGAAGGGAGGCCG TGCAGGGGGAAGGGAGGCCGTGCAGGCAGAGGGGAAGACGTGCAGGGGGA GGGGAGGCCGTGCAGGCGGAGGGGGGTACGTGCAGGGGGCAGCGGAGGCC GTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGG AGGGGAGGCCGTGCAGGGGGAAGGGGGGCCGTGCAGGGGGAAGGGAGGCC GTGCAGGGGGAAGGGAGGCCGTGCAGGCAGAGGGGAAGACGTGCAGGCGG AGCGGGGGCCGTGCAGGCGGAGGGGGGTACGTGCAGGGGGCAGCGGA		PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding					418		chrX	TogoVar
PLEKHG4B_chr5_87168_194966	92369	G G	GGCGCCGG others(476): Show GGCGCCGGGGTAGGGGCGGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGG GGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGG GCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGG CGCGGGGGTAGGGGTGGGGTGGGGGCGCGAGCGGACGCGGGAGTAGGGGC GGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGG GGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGAGTAGGGGCGG GTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCGAGCGGACGCGGGAG TAGGGGCGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTA GGGGTGGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAG GGGTGGGGTGGGGGCGCGGGGGTAGGGGTGGGGT	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA18906.hp1 HG02809.hp1 NA18906.hp1	a0013 a0013	a0013c0027 a0013c0066 a0013c0027 a0013c0066	a0013c0027t0052 a0013c0066t0051 a0013c0027t0052 a0013c0066t0051	a0013c0027t0052g0170 a0013c0066t0051g0169 a0013c0027t0052g0170 a0013c0066t0051g0169	2	3	0.6667	483	c.45+ others(494): Show c.45+94_45+95insCGCCGGGGTAGGGGCGGGGTGGGGGCGCGGGGGT AGGGGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTA GGGGTGGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGAGTA GGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCGAGCGGAC GCGGGAGTAGGGGCGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGC GGGGGTAGGGGTGGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGC CGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCG AGCGGACGCGGGAGTAGGGGCGGGTGGGGGCGCCGGGGTAGGGGCGGGTG GGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGGGTAGGGGCGGGTGG GGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCGGGGGTAGGGGTGGGGTG		PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	92369	G G	GGCGCGGG others(476): Show GGCGCGGGGGTAGGGGCGGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGG GGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGG GCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGG CGCGGGGGTAGGGGTGGGGTGGGGGCGCGAGCGGACGCGGGAGTAGGGGC GGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGG GGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGAGTAGGGGCGG GTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCGAGCGGACGCGGGAG TAGGGGCGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTA GGGGTGGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAG GGGTGGGGTGGGGGCGCGGGGGTAGGGGTGGGGT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02451.hp1 HG02622.hp1 others(2): Show HG01099.hp1 HG02451.hp1 HG02622.hp1 HG02717.hp2 NA18906.hp2	a0011 a0012 a0018 a0011 a0012 a0018	a0011c0023 a0011c0078 a0012c0020 others(1): Show a0011c0023 a0011c0078 a0012c0020 a0018c0077	a0011c0023t0053 a0011c0078t0055 a0012c0020t0011 others(1): Show a0011c0023t0053 a0011c0078t0055 a0012c0020t0011 a0018c0077t0045	a0011c0023t0053g0183 a0011c0078t0055g0184 a0012c0020t0011g0181 others(2): Show a0011c0023t0053g0183 a0011c0078t0055g0184 a0012c0020t0011g0181 a0012c0020t0011g0182 a0018c0077t0045g0180	5	6	0.8333	483	c.45+ others(494): Show c.45+94_45+95insCGCGGGGGTAGGGGCGGGGTGGGGGCGCGGGGGT AGGGGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTA GGGGTGGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGAGTA GGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCGAGCGGAC GCGGGAGTAGGGGCGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGC GGGGGTAGGGGTGGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGC CGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCG AGCGGACGCGGGAGTAGGGGCGGGTGGGGGCGCCGGGGTAGGGGCGGGTG GGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGGGTAGGGGCGGGTGG GGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCGGGGGTAGGGGTGGGGTG		PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	92369	G G	GGCGCGGG others(476): Show GGCGCGGGGGTAGGGGTGGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGG GGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGG GCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGG CGCGGGGGTAGGGGTGGGGTGGGGGCGCGAGCGGACGCGGGAGTAGGGGC GGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGG GGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGAGTAGGGGCGG GTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCGAGCGGACGCGGGAG TAGGGGCGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTA GGGGTGGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAG GGGTGGGGTGGGGGCGCGGGGGTAGGGGTGGGGT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0018 a0018	a0018c0076 a0018c0076	a0018c0076t0060 a0018c0076t0060	a0018c0076t0060g0191 a0018c0076t0060g0191	1	2	0.5000	483	c.45+ others(494): Show c.45+94_45+95insCGCGGGGGTAGGGGTGGGGTGGGGGCGCGGGGGT AGGGGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTA GGGGTGGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGAGTA GGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCGAGCGGAC GCGGGAGTAGGGGCGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGC GGGGGTAGGGGTGGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGC CGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCG AGCGGACGCGGGAGTAGGGGCGGGTGGGGGCGCCGGGGTAGGGGCGGGTG GGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGGGTAGGGGCGGGTGG GGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCGGGGGTAGGGGTGGGGTG		PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr5	TogoVar
PPP2R2D_chr10_131896008_131964834	131949712	G G	GGAACATC others(476): Show GGAACATCTAGAAATGACAAGTATGATACATGACCGCCAAACATGACGTG GAGACTGGAAAGGAGTCAGAGAACATCTAGAAATGACAAGTATGATACAT GACCGCCAAACATGACGTGGAGACTGGAAAGGAGTCAGAGAACATCTAGA AATGACAAGTATGATACATGACCGCCAAACATGACGTGGAGACTGGAAAG GAGTCAGAGAACATCTAGAAATGACAAGTATGATACATGACCGCCAAACA TGACGTGGAGACTGGAAAGGAGTCAGAGAACATCTAGAAATGACAAGTAT GATACATGACCGCCAAACATGACGTGGAGACTGGAAAGGAGTCAGAGAAC ATCTAGAAATGACAAGTATGATACATGACCGCCAAACATGACGTGGAGAC TGGAAAGGAGTCAGAGAACATCTAGAAATGACAAGTATGATACATGACCG CCAAACATGACGTGGAGACTGGAAAGGAGTCAGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02922.hp1 HG00099.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0078 a0001c0003t0037 a0001c0001t0078 a0001c0003t0037	a0001c0001t0078g0130 a0001c0003t0037g0169 a0001c0001t0078g0130 a0001c0003t0037g0169	2	244	0.0082	483	c.108 others(502): Show c.1082+2291_1082+2292insTACATGACCGCCAAACATGACGTGGA GACTGGAAAGGAGTCAGAGAACATCTAGAAATGACAAGTATGATACATGA CCGCCAAACATGACGTGGAGACTGGAAAGGAGTCAGAGAACATCTAGAAA TGACAAGTATGATACATGACCGCCAAACATGACGTGGAGACTGGAAAGGA GTCAGAGAACATCTAGAAATGACAAGTATGATACATGACCGCCAAACATG ACGTGGAGACTGGAAAGGAGTCAGAGAACATCTAGAAATGACAAGTATGA TACATGACCGCCAAACATGACGTGGAGACTGGAAAGGAGTCAGAGAACAT CTAGAAATGACAAGTATGATACATGACCGCCAAACATGACGTGGAGACTG GAAAGGAGTCAGAGAACATCTAGAAATGACAAGTATGATACATGACCGCC AAACATGACGTGGAGACTGGAAAGGAGTCAGAGAACATCTAGAAATGACA AGTATGA		PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	8/8					INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKCZ_chr1_2045411_2190395	2124271	A A	AGGGTCGT others(476): Show AGGGTCGTGGTGGTTAGGGTCATGGTGGTAGTTAGGATCACGGCTGTAGT TAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGG TAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACG GCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGT CATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTA GGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTA GTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGT GGTAGTTAGGGTCACAGCGATAGTTAGCATCATGGTGGTAGTTAGGGTCA TGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGG GTCATGGCTGTAGTTAGGGTCATGGTGGTAGTTG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0072 a0001c0003t0001g0072	1	197	0.0051	483	c.335 others(502): Show c.335-10986_335-10985insGTGGTGGTTAGGGTCATGGTGGTAGT TAGGATCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTG TAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATG GTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGAT CATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTG GGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTA GTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGC TATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGATAGTTAGCATCA TGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGG GTCATGGTGGTAGTTAGGGTCATGGCTGTAGTTAGGGTCATGGTGGTAGT TGGGGTC		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2124289	A A	AGGGTCAT others(476): Show AGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGT AGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGG TGGTTAGGTTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATG GTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGT CACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGATAGTTA GCATCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTA GTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGC GATAGTTAGCATCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCA TGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGCTGTAGTTAGG GTCATGGTGGTAGTTGGGGTCACGGCTATAGTTG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0047 a0001c0001t0005g0047	1	169	0.0059	483	c.335 others(502): Show c.335-10972_335-10971insGGTCATGGTGGTAGTTAGGATCATGG CTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTC ATGGTGGTAGTTAGGGTCGTGGTGGTTAGGTTCATGGTGGTAGTTAGGGT CACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTA GGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTA GTTAGGGTCACAGCGATAGTTAGCATCATGGTGGTAGTTAGGGTCATGGT GGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCA TGGTGGTAGTTAGGGTCACAGCGATAGTTAGCATCATGGTGGTAGTTAGG GTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGT TAGGGTCATGGCTGTAGTTAGGGTCATGGTGGTAGTTGGGGTCACGGCTA TAGTTGG		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
RAC2_chr22_37220270_37249269	37227202	C C	CCTCCCAC others(476): Show CCTCCCACACCATACACCCCTCCCACACCATACACTCCTCCCATGCCTCC CATGCCATACAAGCCCTCCTGTGCCATACACACCCCTCCCACGCCATACA CCCCCCCTCCCACGCCTCCCACACCATACACCCCTCCCACACCATACACC CCTCCCACGCCTCCCACACCATACAAGCCCTCCCGTGCCATACACCCCTC CCACAGCATATAACCCCTCCCACGCCATAAAACCCTCTCTCACACCATAC ACCCCCCTCCCACACCTCCCACGCCATACAACCCCTCTCACACCATACAC CGCTCCCATGCCATACACCCCTCCCACGCCTCCCATGCCATACAACCCTC CCATGACATACAGCCCCTCCTACGCCATACAACCCCTCCTGTGCCATACA CCCCTCCCACGTCATACACCCCCTCCCACGTCATACATCCCCTCCCATGC CTCCCACACCATACAACCCCTCCCACGCCATACA	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0109 a0001c0001t0004g0109	1	223	0.0045	483	c.449 others(498): Show c.449-400_449-399insTGTATGGCGTGGGAGGGGTTGTATGGTGTG GGAGGCATGGGAGGGGATGTATGACGTGGGAGGGGGTGTATGACGTGGGA GGGGTGTATGGCACAGGAGGGGTTGTATGGCGTAGGAGGGGCTGTATGTC ATGGGAGGGTTGTATGGCATGGGAGGCGTGGGAGGGGTGTATGGCATGGG AGCGGTGTATGGTGTGAGAGGGGTTGTATGGCGTGGGAGGTGTGGGAGGG GGGTGTATGGTGTGAGAGAGGGTTTTATGGCGTGGGAGGGGTTATATGCT GTGGGAGGGGTGTATGGCACGGGAGGGCTTGTATGGTGTGGGAGGCGTGG GAGGGGTGTATGGTGTGGGAGGGGTGTATGGTGTGGGAGGCGTGGGAGGG GGGGTGTATGGCGTGGGAGGGGTGTGTATGGCACAGGAGGGCTTGTATGG CATGGGAGGCATGGGAGGAGTGTATGGTGTGGGAGGGGTGTATGGTGTGG GAG		RAC2	ENSG00000128340.16	transcript	ENST00000249071.11	protein_coding	5/6						chr22	TogoVar
REPS2_chrX_16941658_17158272	17050133	C C	CCTTCTTC others(476): Show CCTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTCCTTT CTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	151	0.0066	483	c.908 others(500): Show c.908-2246_908-2245insCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTTCTTTCTTCCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTT		REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	6/17					INFO_REALIGN_3_PRIME	chrX	TogoVar
RPA3_chr7_7631518_7723607	7679092	T T	TATAAATA others(476): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATATA TATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTA TAGATAAATATATATTTATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0219 a0001c0001t0002g0219	1	129	0.0078	483	c.-75 others(502): Show c.-758+6737_-758+6738insCTATAAACTAAATATATAAATATATA TTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAATA TATAAATATATATTTATCTATAAATTAAATATATAAATATATATTTATCT ATAAATTAAATATATAAATATATATTTATCTATAAATTAAATATATAAAT ATATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAAATT AAATATATAAATATATATTTATCTATAAATTAAATATATAAATATGTATT TATAAACTAAATATATAAATATGTATTTATAAACTAAATATGTAAATATG TATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATAAATATA TATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAAATATA TATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAAATATA TATTTAT		RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7						chr7	TogoVar
RPH3AL_chr17_207389_357807	243302	T T	TTCCTCTA others(476): Show TTCCTCTATTGATTACCCTTCCTCTATTGACTACCTTCCTCTATTGACTA CCTTCCTCTATTGATTACCTTCCTCTATTGATTACCTTCCTCTATTGATT ACCCTTCCTCTATTGATTACCTTCCTCTATTGACTACCTTCCTCTATTGA CTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTG ACTACCTTCCTCTATTGATTACCCTTCCTCTATTGATTACCTTCCTCTAT TGATTACCCGTCCTCTATTGATTACCTTCCTCTATTGATTACCCTTCCTC TATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGATTACCTTCCT CTATTGATTACCTTCCTCTATTGATTACCCTTCCTCTATTGATTACCTTC CTCTATTGATTACCCTTCCTCTATTGACTACCTTCCTCTATTGACTACCT TCCTCTATTGATTACCTTCCTCTATTGATTACCC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0016 a0002c0011t0001g0016	1	128	0.0078	483	c.613 others(500): Show c.613+3808_613+3809insGGGTAATCAATAGAGGAAGGTAATCAAT AGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGGTAATCA ATAGAGGAAGGTAATCAATAGAGGAAGGGTAATCAATAGAGGAAGGTAAT CAATAGAGGAAGGTAATCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAG TCAATAGAGGAAGGGTAATCAATAGAGGAAGGTAATCAATAGAGGACGGG TAATCAATAGAGGAAGGTAATCAATAGAGGAAGGGTAATCAATAGAGGAA GGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGA AGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAATCAATAGAGG AAGGGTAATCAATAGAGGAAGGTAATCAATAGAGGAAGGTAATCAATAGA GGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGGTAATCAATA GAGGA		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	303722	A A	AGCAGTGA others(476): Show AGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACT GAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATGGG GAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGT GTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATA ATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGGTGGGGAGGGAGGGAGG CTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAG AGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAG TGACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGT TTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGG AGGGAGGCTGTACTGAGGTTTTAATAATTATTGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0093 a0001c0001t0016g0093	1	124	0.0081	483	c.351 others(502): Show c.351+15697_351+15698insCCAATAATTATTAAAACCTCAGTACA GCCTCCCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAATAA TTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGA CACGGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCT CCCCATCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATTAAAACCT CAGTACAGCCTCCCTCCCTCCCCACCTCTTTCCTGAGACACGGTCACTGC TCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTT CCTGAGACACGGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTC CCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATT AAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGACACGG TCACTGC		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9						chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963587	G G	GTGCGGCC others(476): Show GTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGC GGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCA CCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCC GTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCC CCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTC TGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCG GCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCC TCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCAC CCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTC	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0190 a0001c0003t0001g0190	1	150	0.0067	483	c.393 others(500): Show c.3939+552_3939+553insGTGCGGCCCTCACCCCGTCCCCTCTGCG GCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCC TCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCAC CCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCG TCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCC CTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCT GCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGG CCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCT CACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACC CCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGT CCCCT		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
SAMD11_chr1_918923_949574	934749	G G	GCGTTACA others(476): Show GCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGG GGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGC GGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAG GTGGGCGGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGGGCGGCT GCGTTACAGGTGGGCGGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGG GCGGCTGCGTTACAGGTGGGCGGGGGGGGGCGGCTGCGTTACAGGTGGGC GGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGCGGCTGCGTTACAG GTGGGCGGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGGCGGCTG CGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGG CGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0006 a0004c0008t0006	a0004c0008t0006g0277 a0004c0008t0006g0277	1	419	0.0024	483	c.843 others(500): Show c.843-1009_843-1008insGGGGGGGGCGGCTGCGTTACAGGTGGGC GGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACA GGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGC GTTACAGGTGGGCGGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGG GGCGGCTGCGTTACAGGTGGGCGGGGGGGGGCGGCTGCGTTACAGGTGGG CGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGGCGGCTGCGTTACA GGTGGGCGGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGCGGCTGC GTTACAGGTGGGCGGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGG GCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCG GGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGG TGGGC		SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934937	G G	GGGCGGCT others(476): Show GGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGG CGGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGGAGGCGGCTGCGTTAC AGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTG CGTTACAGGTGGGCGGGGGGGGGCGGCTGCGTTACAGGTGGGCAGGGGAG GCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCG GGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGGCGGCTGCGTTACAG GTGGGCGGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGGCGGCTG CGTTACAGGTGGGCGGGGGGGGGCGGCTGCGTTACAGGTGGGCAGGGGAG GCGGCTCCGTTACAGGTGGGCGGGGGGGGGCGGCTGCGTTACAGGTGTGC AGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGA	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0240 a0002c0003t0004g0240	1	46	0.0217	483	c.843 others(498): Show c.843-810_843-809insGGGGGCGGCTGCGTTACAGGTGGGCGGGGG AGGCTGCTCCGTTACAGGTGGGCGGGGGGAGGCGGCTGCGTTACAGGTGG GCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTAC AGGTGGGCGGGGGGGGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCT GCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGG GCGGCTGCGTTACAGGTGGGCGGGGGGGGGCGGCTGCGTTACAGGTGGGC GGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGGCGGCTGCGTTAC AGGTGGGCGGGGGGGGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCT CCGTTACAGGTGGGCGGGGGGGGGCGGCTGCGTTACAGGTGTGCAGGGGA GGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGC GGG		SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD12_chr8_118372984_118626963	118469545	T T	TAATATAT others(476): Show TAATATATAATATATATAATATATAATATATAATATATAATATATAATAT ATATAATATATAATATATAATATATAATATATATAATATATAATATATAT TATATATAATATATATATTATATATAATATATAATATATATAATATAATA TATATATTATATATAATATATATTATATATTATATATAATATATATTTAT ATATAATATATAAATATATATTATATATAATATATAATATATAATTATAT ATTATATATTATATATAATATATATTTATATATAATATATAAATATAATT ATATATTATATATAATATATAAATATATATTATATATAATATATAATATA TATTTATATATTATATATTATATATAATATATATTTATATATTATATATA ATATATAAATATATATTATATATATTTAATATATATTTTATATATAAATT ATATATTATATATATTTAATATATATTTTATATA	intron_variant intron_variant	MODIFIER	HG03704.hp2 NA19063.hp1 HG03704.hp2 NA19063.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0027 a0001c0002t0001g0109 a0001c0002t0001g0027 a0001c0002t0001g0109	2	30	0.0667	483	c.193 others(502): Show c.193-29585_193-29584insTATATAAAATATATATTAAATATATA TAATATATAATTTATATATAAAATATATATTAAATATATATAATATATAT TTATATATTATATATAATATATAAATATATATTATATATAATATATAATA TATAAATATATATTATATATTATATATAATATATATTTATATATTATATA TAATATATAATTATATTTATATATTATATATAAATATATATTATATATAA TATATAATATATAATTATATATTATATATTATATATAATATATATTTATA TATTATATATAAATATATATTATATATAATATATAATATATATTATATAT AATATATATATTATATTATATATATTATATATTATATATAATATATATAT TATATATAATATATATTATATATTATATATATTATATATTATATATTATA TATTATATATATTATATATTATATATTATATATTATATATTATATATATT ATATATT		SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3						chr8	TogoVar
SAMD12_chr8_118372984_118626963	118469556	A A	AATATATA others(476): Show AATATATAATATATTATTATATATTATATATAATATATTATTATATATTA TATATAATATATAATAATATTATTATATATTATATATTATTATATATTAT ATATAATATATAATAATATATTATATATAATATATAAATATATATTATAT ATAATATATATATATAATATATAATATATTATATATATTATATATTATAT ATAATATATATAATAATATATTATATAATATATATTATATAAATATATAT TATATAAATATATATTATATTTATATAATATATATTATATATTTATATAA TATATATATTATTAATATATAATATATATTATATATATTAAATATATATA ATATATATATATATAATATATAATATATATATTTAATATATATAAAATAT ATATTATATATATTTAATATATATAAAATATATATTATTTTTATATATAT TTAATATATATAAAATATATATTATTAAATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03225.hp2 HG02055.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0151 a0001c0001t0004g0060 a0001c0001t0002g0151 a0001c0001t0004g0060	2	24	0.0833	483	c.193 others(502): Show c.193-29596_193-29595insATATATTTAATAATATATATTTTATA TATATTAAATATATATAAAAATAATATATATTTTATATATATTAAATATA TATAATATATATTTTATATATATTAAATATATATATTATATATTATATAT ATATATATTATATATATTTAATATATATAATATATATTATATATTAATAA TATATATATTATATAAATATATAATATATATTATATAAATATAATATATA TTTATATAATATATATTTATATAATATATATTATATAATATATTATTATA TATATTATATATAATATATAATATATATAATATATTATATATTATATATA TATATTATATATAATATATATTTATATATTATATATAATATATTATTATA TATTATATATAATATATAATAATATATAATATATAATAATATTATTATAT ATTATATATAATATATAATAATATATTATATATAATATATAATAATATAT TATATAT		SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3						chr8	TogoVar
SCGB1C1_chr11_188078_199575	196197	G G	GGGGACCT others(476): Show GGGGACCTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTG AGGGGACCTGGTGAGGGGACATAGGGGGACCTTGGTGAGCGGACCTGGTG AGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATGG GGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGG TGAGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGT GAGGGGACCTGGTGAGGGGACATAGGGGGGCCTTGGTGAGGGGACCTGGT GAGGGGACATGGTGAGGGGAGCATGGTGAGGGGAACATGGGTGGGGAGCC TTGGTGAGGGGACCTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGAC CTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGG ACCTGGTGAGGGGACATGGGGGGGACCTTGGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0001 a0002c0001t0002g0001	1	328	0.0030	483	c.17 others(494): Show c.1747_*1748insGGGACCTGGTGAGGGGACCTGGTGAGGGGACATG GGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATAGGGGGACCTTGG TGAGCGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTG GTGAGGAGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACA TGGGGGGGACCTTGGTGAGGACCTGGTGAGGGGACATGGGGGGGACCTTG GTGAGGGGACCTGGTGAGGGGACCTGGTGAGGGGACATAGGGGGGCCTTG GTGAGGGGACCTGGTGAGGGGACATGGTGAGGGGAGCATGGTGAGGGGAA CATGGGTGGGGAGCCTTGGTGAGGGGACCTGGTGAGGGGACCTGGTGAGG GGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGG GACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGA		SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding					1623		chr11	TogoVar
SIMC1_chr5_176233424_176350989	176305290	C C	CCAGCCAC others(476): Show CCAGCCACCCCGTCCAGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCTGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGC CAACCCCCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGGTCAGCCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGA GGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCAGCTGCCCGGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCA CCCCATCTGGGAAGTGAGGAGCGTCTCCGCCCGG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	249	0.0040	483	c.173 others(502): Show c.1735-8387_1735-8386insAGGAGGGAGGTGGGGGGGGTCAGCCC CCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCT CCGCCCGGCCAACCCCCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGGTCAGCCCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCAGCTGCCCGGTCTGAGAAGTGAGGAGCCTCTCCGCC CGGCAGCCACCCCATCTGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCAC CCCGTCC		SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176305314	G G	GTGGGGGG others(476): Show GTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCCCGTCTGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCAGCTGCCCGGTCTGAGAAG TGAGGAGCCTCTCCGCCCGGCAGCCACCCCATCTGGGAAGTGAGGAGCGT CTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA19043.hp2 NA18906.hp2 NA19043.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0356 a0003c0004t0001g0357 a0003c0004t0001g0356 a0003c0004t0001g0357	2	195	0.0103	483	c.173 others(502): Show c.1735-8370_1735-8369insGTCAGCCCCCCGCCTGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCC CGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGG GTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCAGC TGCCCGGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCATCT GGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGA TGGGGGG		SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176305314	G G	GTGGGGGG others(476): Show GTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCCCGTCTGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCAGCTGCCCGGTCTGAGAAG TGAGGAGCCTCTCTGCCCGGCAGCCACCCCATCTGGGAAGTGAGGAGCGT CTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0355 a0003c0004t0001g0355	1	194	0.0052	483	c.173 others(502): Show c.1735-8370_1735-8369insGTCAGCCCCCCGCCTGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCC CGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGG GTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCAGC TGCCCGGTCTGAGAAGTGAGGAGCCTCTCTGCCCGGCAGCCACCCCATCT GGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGA TGGGGGG		SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176305314	G G	GTGGGGGG others(476): Show GTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCCCGTCTGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCCGCCC GGCCAGCTGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC TACTGGGAAGTGAGGAGCCTCTCTGCCCGGCAGCTGCCCCGTCTGAGAAG TGAGGAGCCTCTCCGCCCGGCAGCCACCCCATCTGGGAAGTGAGGAGCGT CTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	194	0.0052	483	c.173 others(502): Show c.1735-8370_1735-8369insGTCAGCCCCCCGCCTGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCC CGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGG GTCAGCCCCCCCGCCCGGCCAGCTGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCTCTCTGCCCGGCAGC TGCCCCGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCATCT GGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGA TGGGGGG		SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176305314	G G	GTGGGGGG others(476): Show GTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCCCGTCTGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGTCAGCCCCCCGCCCGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCAGCTGCCCGGTCTGAGAAG TGAGGAGCCTCTCCGCCCGGCAGCCACCCCATCTGGGAAGTGAGGAGCGT CTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGA	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	194	0.0052	483	c.173 others(502): Show c.1735-8370_1735-8369insGTCAGCCCCCCGCCTGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCC CGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGT CAGCCCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCAGC TGCCCGGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCATCT GGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGA TGGGGGG		SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176305315	T T	TGGGGGGG others(476): Show TGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCCCGTCTGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCGGCAGCTGCCCGGTCTGAGAAGTG AGGAGCCTCTCCGCCCGGCAGCCACCCCATCTGGGAAGTGAGGAGCGTCT CCGCCCGGCAGCCACCCCGTCCGGGAGGGAGATG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	273	0.0037	483	c.173 others(502): Show c.1735-8370_1735-8369insGTCAGCCCCCCGCCTGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCC CGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTC AGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGG TCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCAGCT GCCCGGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCATCTG GGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGAT GGGGGGG		SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1098676	G G	GCCCCCCT others(476): Show GCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTGCACG CCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTG CACGCCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCC TCTGCACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTA ACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCC TCTAACCGTCTGCACGCCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCC CCCCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTGCACACCCAG CCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTCAC CCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGC ACACCCAGCCCCCCTCTAACCCTCTGCACACCCA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp1 HG03516.hp1 HG01884.hp1 HG02055.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0010 a0001c0003 a0001c0010	a0001c0003t0003 a0001c0010t0005 a0001c0003t0003 a0001c0010t0005	a0001c0003t0003g0005 a0001c0003t0003g0006 a0001c0010t0005g0009 a0001c0003t0003g0005 a0001c0003t0003g0006 a0001c0010t0005g0009	3	56	0.0536	483	c.125 others(500): Show c.125-4429_125-4428insTGGGTGTGCAGAGGGTTAGAGGGGGGCT GGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGG GGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGA GGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGAGGGT TAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGACG GTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTGTGCA GAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTG TGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTG GGCGTGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGG GCTGGGCGTGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGAG GGGGG		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23						chr5	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGC others(476): Show CGGGGGGCGGCAGGGGGGAGGCGGGGGGGCGGGAGGGGAGGAGGCGGGGG GGGCGGGAGGGGGAGGAGGCGGGGGGGCGGCAGGGGGGAGGCGGGGGGGC GGGAGGGGAGGAGGCGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGG AGGGGGAGGAGGCGGGGGGGCGGGAGGGCGGGAGGGGAGGAGGCGGGGGG GCGGGAGGGGGCCGGAGGGGGAGGAGGCGGGGGGGGCGGGGGGGCGGGAG GGGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGC GGGAGGGGGCGGGGAGGGGAAGGAGGCGGGGGGGGGCGGGGGGGAGGGAG GGGAAGGAGGCGGGGGGGGCGGGAGGGGGAGGACGCGGGGGGGGGCGGGG GGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGAGGG GAAGGAGGCGGGGGGGGGCGGGGGGGGCGGGAGG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0104 a0001c0002t0002g0104	1	25	0.0400	483	c.914 others(502): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCCCG CCTCCTTCCCCTCCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCCT CCCGCCCCCCCCGCCCCCCCCCGCGTCCTCCCCCTCCCGCCCCCCCCGCC TCCTTCCCCTCCCTCCCCCCCGCCCCCCCCCGCCTCCTTCCCCTCCCCGC CCCCTCCCGCCCCCCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCC TCCCGCCCCTCCCGCCCCCCCGCCCCCCCCGCCTCCTCCCCCTCCGGCCC CCTCCCGCCCCCCCGCCTCCTCCCCTCCCGCCCTCCCGCCCCCCCGCCTC CTCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCGCCTCCT CCCCTCCCGCCCCCCCGCCTCCCCCCTGCCGCCCCCCCGCCTCCTCCCCC TCCCGCCCCCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTGCC GCCCCCC		SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9						chr6	TogoVar
SLC35F1_chr6_117902264_118322671	118071064	G G	GTATATAT others(476): Show GTATATATATACACATAGTATATATATTCTACGTGTATATATATACACAT AGTATATATATTCTACGTATATATATACACATAGTATATATATTCTACGT ATATATATACACATAGTATATATATTCTACGTATATATATACACATAGTA TATATATTCTACGTATATATATACACATAGTATATATATTCTACGTATAT ATATACACATAGTATATATATTCTACGTGTGTATATATATACACATAGTA TATATATTCTACGTGTGTATATATATACACATAGTATATATATTCTACGT GTATGTATACACATATATACATAGAATATATATACTATGTGTATATATAT ACGTAGAATATATATACTATGTGTATATATACGTAGAATATATATACTAT GTGTGTATATATACGTAGAATATATATACTATGTGTATATATATACGTAG AATATATATACTATGTGTATATATATACGTAGAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA19030.hp2 HG02630.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0022 a0001c0001t0006 a0001c0001t0022	a0001c0001t0006g0008 a0001c0001t0022g0105 a0001c0001t0006g0008 a0001c0001t0022g0105	2	53	0.0377	483	c.174 others(502): Show c.174-83373_174-83372insTACACATAGTATATATATTCTACGTG TATATATATACACATAGTATATATATTCTACGTATATATATACACATAGT ATATATATTCTACGTATATATATACACATAGTATATATATTCTACGTATA TATATACACATAGTATATATATTCTACGTATATATATACACATAGTATAT ATATTCTACGTATATATATACACATAGTATATATATTCTACGTGTGTATA TATATACACATAGTATATATATTCTACGTGTGTATATATATACACATAGT ATATATATTCTACGTGTATGTATACACATATATACATAGAATATATATAC TATGTGTATATATATACGTAGAATATATATACTATGTGTATATATACGTA GAATATATATACTATGTGTGTATATATACGTAGAATATATATACTATGTG TATATATATACGTAGAATATATATACTATGTGTATATATATACGTAGAAT ATATATA		SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC6A3_chr5_1387794_1450440	1414399	G G	GGGGGGCC others(476): Show GGGGGGCCTGGAGGCACAAGGCAGGAAAGGCACTGGGTGGGGGGCCTGGA GGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCAG GGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGG GTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCTG GAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGA AGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTG GGGGGCCGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCTGGAG GGGCAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGG CACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGG GGCCTGGAGGGGCAGGGCGGAGAAGGCACTGGGT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0144 a0001c0003t0001g0144	1	312	0.0032	483	c.115 others(500): Show c.1156+291_1156+292insACCCAGTGCCTTCTCCGCCCTGCCCCTC CAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCAC CCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCC CTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCCG GCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCA GTGCCTTCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCTCCGCCCTG CCCCTCCAGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCCGGCC CCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTG CCTTCCCTGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCC TGCCCCTCCAGGCCCCCCACCCAGTGCCTTTCCTGCCTTGTGCCTCCAGG CCCCC		SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14						chr5	TogoVar
SLC9A3_chr5_465456_529449	507670	A A	ACAGACGC others(476): Show ACAGACGCCCGAATCCTCACCCTGCAGACGCCCGAATCCCCACCCCGCAG ACGCCCGAATCCCCACCCCACAGACGCCCGAATCTCCACCCCACAGACGC CCGAATCCCCACCCCACAGACGCCCGAATCCCCACCCCGCAGACGCCCGA ATCCTCACCCCGCAGACGCCCGAATCCCCACCCCGCAGACGCCCGAATCC TCACCCCGCAGACGCCCGAATCCCCACCCCGCAGACGCCCGAATCCCCAC CCCGCAGACGCCCGAATCCCCACCCCACAGACGCCCGAATCCCCACCCCA CAGACGCCCGAATCCCCACCCCGCAGACGCCCGAATCCCCACCCCGCAGA CGCCCGAATCCTCACCCCGCAGACGCCCGAATCCCCACCCCGCAGACGCC CGAATCCCCACCCCGCAGACGCCCGAATCCCCACCCCGCAGACGCCCGAA TCCCCACCCCGCAGACGCCCGAATCCCCACCCCG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0077 a0002c0002t0002g0077	1	112	0.0089	483	c.212 others(502): Show c.212-15600_212-15599insCGGGGTGGGGATTCGGGCGTCTGCGG GGTGGGGATTCGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTGCGGGGTG GGGATTCGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTGCGGGGTGAGGA TTCGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTGCGGGGTGGGGATTCG GGCGTCTGTGGGGTGGGGATTCGGGCGTCTGTGGGGTGGGGATTCGGGCG TCTGCGGGGTGGGGATTCGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTG CGGGGTGAGGATTCGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTGCGGG GTGAGGATTCGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTGTGGGGTGG GGATTCGGGCGTCTGTGGGGTGGAGATTCGGGCGTCTGTGGGGTGGGGAT TCGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTGCAGGGTGAGGATTCGG GCGTCTG		SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16						chr5	TogoVar
SMOC2_chr6_168436184_168672992	168614584	C C	CACCTACA others(476): Show CACCTACAGCCAGCACAGGGGACCTCTTCACACCTACAGCCAGCACAGGG CCTCTTCACACCTACAGCCAGCACAGGGCCCCTTCATACTTACAGCCGGC ACAGGGCCTCTTTACATCTACAGCCGGCACAGGGCCTCTTCACACCTACA GCCAGCACAGGGCCTCTTCATACCTACAGCCAGCACAGGGCCTCTTCATA CCTACAGCCAGCACAGGGCCTCTTTATACCTACAGCCAGCACAGGGCCTC TTCACACCTACAGCCAGCACATGGAGCCTCTTCACACCTACAGCCAGCAC AGGGCCTCTTCACACCTACAGCCAGCACAGGGCCTCTTCATACCTACAGC CAGCACAGGGGGCCTCTTCACACCTACAGCCAGCACAGGGGGCCTCTTCA CACCTACAGCCAGCACAGGGCCTCTTCATACTTCAGCCGGCACAGGGCCT CTTTACATCTACAGCCAGCACAGGGCCTCTTCAT	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA19085.hp1 NA18973.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0111 a0001c0001t0001g0070 a0001c0001t0001g0111	2	165	0.0121	483	c.907 others(500): Show c.907+6365_907+6366insACCTCTTCACACCTACAGCCAGCACAGG GCCTCTTCACACCTACAGCCAGCACAGGGCCCCTTCATACTTACAGCCGG CACAGGGCCTCTTTACATCTACAGCCGGCACAGGGCCTCTTCACACCTAC AGCCAGCACAGGGCCTCTTCATACCTACAGCCAGCACAGGGCCTCTTCAT ACCTACAGCCAGCACAGGGCCTCTTTATACCTACAGCCAGCACAGGGCCT CTTCACACCTACAGCCAGCACATGGAGCCTCTTCACACCTACAGCCAGCA CAGGGCCTCTTCACACCTACAGCCAGCACAGGGCCTCTTCATACCTACAG CCAGCACAGGGGGCCTCTTCACACCTACAGCCAGCACAGGGGGCCTCTTC ACACCTACAGCCAGCACAGGGCCTCTTCATACTTCAGCCGGCACAGGGCC TCTTTACATCTACAGCCAGCACAGGGCCTCTTCATACCTACAGCCAGCAC AGGGG		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
SMYD3_chr1_245744347_246512279	246325127	G G	GGGGGGCG others(476): Show GGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAA GGAGTCGGGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGCAGGAAGGA GGGAGAAGGAGTCGGGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGGC GGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTC GGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCAGGAAGGAGGGAGA AGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGA GGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGG GAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGG GGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAG GAGTCGGGGGGGCAGGAAGGAGGGAGAAGGAGTC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	72	0.0139	483	c.531 others(500): Show c.531+2073_531+2074insGACTCCTTCTCCCTCCTTCCTGCCCCCC CGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCC GCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCC TCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCT TCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCG ACTCCTTCTCCCTCCTTCCTGCCCCCCCGACTCCTTCTCCCTCCTTCCCG CCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCCTC CTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCCCGACTCCT TCTCCCTCCTTCCTGCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCCC GACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCG CCCCC		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SORCS2_chr4_7187538_7747827	7449241	C C	CCCTTCCT others(476): Show CCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCC CTTCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCT CCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCT CCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCC CTTCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCC CTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCT TCCGTACTTCCTCTCCCCTCCCTCCCTCTTTTCCTTTCTCTCCCCTCCAT CCCGCCCTCCCTCCCTTCCTCTTTTCCCTCTCTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0039 a0001c0002t0039	a0001c0002t0039g0070 a0001c0002t0039g0070	1	140	0.0071	483	c.548 others(502): Show c.548+52889_548+52890insTCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCT CCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCT CCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCT CCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCT CCCTCCCTTCCTCCCTCCCTTCCGTACTTCCTCTCCCCTCCCTCCCTCTT TTCCTTTCTCTCCCCTCCATCCCGCCCTCCCTCCCTTCCTCTTTTCCCTC TCTTCCT		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26					INFO_REALIGN_3_PRIME	chr4	TogoVar

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