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
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(420): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGGGG GAGGGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGAA GAGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGGA GGAGAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGGGAGGAGGGG GAGGAGGGGGAGGAGGGCAGGAGGAGGGGGGAGGGGGAGGAGGAGGAAGA GGAGGAGGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	316	0.0032	427	c.583 others(442): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCTCCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCC CCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCTCCTC CTCCTCTTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTCTT CATCTTCCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCCCTCCC CCTCCCCCTCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTCTT CCTCTTCCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCCC TGACCCCCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTCCT CCCCTTCCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(420): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGGGG GGAGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGA GGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGGAGG AGAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGG GGAGGAGGGGGAGGAGGGCAGGAGGAGGGGGAGGGGGAGGAGGAGGAAGA GGAGGAGGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	316	0.0032	427	c.583 others(442): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCCC CTCCTCCCCTCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCTCC TCCTCCTCTTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTC ATCTTCCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTCCCC CCTCCCCCTCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTCTT CCTCTTCCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCCC TGACCCCCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTCCT CCCCTTCCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(420): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGGAGGG GGAGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGA GGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGGAGG AGAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGG GGAGGAGGGGGAGGAGGGCAGGAGGAGGGGGAGGGGGAGGAGGAGGAAGA GGAGGAGGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	316	0.0032	427	c.583 others(442): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCCC CTCCTCCCCTCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCTCC TCCTCCTCTTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTC ATCTTCCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTCCCC CTCCCCCCTCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTCTT CCTCTTCCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCCC TGACCCCCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTCCT CCCCTTCCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(420): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGGAGGAGGGGAGAGGAGAGGGAGGAGGGGGAGGG GAGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGAA GAGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGGA GGAGAAAATGAGGAAGAGGAGGAGGGGAGGAGGAGGAGGAGGGGAGGAGG GGGAGGAGGGGAGGAGGGCAGGAGGAGGGGGAGGGGGAGGAGGAGGAAGA GGAGGAGGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0141 a0003c0005t0001g0141	1	316	0.0032	427	c.583 others(442): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCTCCTCCCCC TCCTCCCCTCCTCCTCCTCCTCCCCTCCTCCTCTTCCTCATTTTCTCCTC CTCCTCTTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTCTT CATCTTCCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTCCC CTCCCCCTCCTCCCTCTCCTCTCCCCTCCTCCCCCCTCCTTCTTCCTCTT CCTCTTCCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCCC TGACCCCCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTCCT CCCCTTCCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
LHPP_chr10_124456823_124619141	124471609	A A	ATTTATAT others(420): Show ATTTATATATAGTTATATATATTTATGTATAGTTATATATAGTTATGTAT AGTTATATATAGTTATATATATAGTTATATATAGTTATAGTTATATATAT ATTTTTATATATATTTATATTTATATATATATTTTTATATATATATTTAT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATATTTATATATATAAATATATATATAAATATATATATTTATATATATAT TTATATATATATTTATATATTTATATATGTATTTATATATATTTATATAT GTATTTATATATATTTATATATATTTATATGTATTTATATATATTTATAT ATATTTATATATATAAATATAAATATATTTATATATAAATATATTTATAT ATATTTATATAAATATATTTATGTATAT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	260	0.0039	427	c.125 others(444): Show c.125+9624_125+9625insTATATATAGTTATATATATTTATGTATA GTTATATATAGTTATGTATAGTTATATATAGTTATATATATAGTTATATA TAGTTATAGTTATATATATATTTTTATATATATTTATATTTATATATATA TTTTTATATATATATTTATATATATATTTATATATATATTTATATATATT TATATATATATTTATATATATATTTATATATATAAATATATATATAAATA TATATATTTATATATATATTTATATATATATTTATATATTTATATATGTA TTTATATATATTTATATATGTATTTATATATATTTATATATATTTATATG TATTTATATATATTTATATATATTTATATATATAAATATAAATATATTTA TATATAAATATATTTATATATATTTATATAAATATATTTATGTATATTT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF2_chr22_50497949_50512702	50504144	C C	CCCCCCCC others(420): Show CCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCC CCCAGTGCCCGGCCTTACCCCTGCACCCCAGGCTCCACACCCCACCCCCG GTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCCC CGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCACCCCCGGT GCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCGGTGC CCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCAGTGCCCGGCC TTACCCCTGCACCCCAGGCTCCACACCCCACCCCCGGTGCCCGGCCTTAC CCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCCCCGGTGCCCGGCCTT ACCCCTGCACCCCGGGCTCCACACCCCA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0005 a0001c0018t0005	a0001c0018t0005g0175 a0001c0018t0005g0175	1	414	0.0024	427	c.171 others(444): Show c.1718+195_1718+196insTGGGGTGTGGAGCCCGGGGTGCAGGGGT AAGGCCGGGCACCGGGGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGG GTAAGGCCGGGCACCGGGGGTGGGGTGTGGAGCCTGGGGTGCAGGGGTAA GGCCGGGCACTGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGG GCACCGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGC ACCGGGGGTGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCG GGGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCAC CGGGGGTGGGGTGTGGAGCCTGGGGTGCAGGGGTAAGGCCGGGCACTGGG GGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCGGGGGGGG	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
LRRC23_chr12_6899822_6919229	6909274	T T	TATATATA others(420): Show TATATATAATTATATATAATATATAATTATATATTATATCTAATTATATA TAATATATATATATTATATATATAATAATATATATACAATATATAATTAT ATATTATATAATTATATATAATATATAATTATATATTATATATAATATAT AATTATATATTATATAATAATATATAATTATATATTATATATAATATATA ATTATATATTATATAATAATATATAATTATATATTATATATAATATATAA TTATATATTATATAATAATATATAATTATTAATATATAATTATATATAAT ATATATTATATATTATATAATAATATATAATTATATATTATATATAATTA TATATTATATAATAACATATAATTATATATAATATATAAATATATAATAT ATAAATATATAATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	316	0.0032	427	c.622 others(442): Show c.622-596_622-595insTATAATTATATATTATATCTAATTATATAT AATATATATATATTATATATATAATAATATATATACAATATATAATTATA TATTATATAATTATATATAATATATAATTATATATTATATATAATATATA ATTATATATTATATAATAATATATAATTATATATTATATATAATATATAA TTATATATTATATAATAATATATAATTATATATTATATATAATATATAAT TATATATTATATAATAATATATAATTATTAATATATAATTATATATAATA TATATTATATATTATATAATAATATATAATTATATATTATATATAATTAT ATATTATATAATAACATATAATTATATATAATATATAAATATATAATATA TAAATATATAATATATAAATATATATAATATATAATTATATATAATA	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
LRRC23_chr12_6899822_6919229	6909276	T T	TATATAAT others(420): Show TATATAATTATATATAATATATAATTATATATTATATCTAATTATATATA ATATATATATATTATATATATAATAATATATATACAATATATAATTATAT ATTATATAATTATATATAATATATAATTATATATTATATATAATATATAA TTATATATTATATAATAATATATAATTATATATTATATATAATATATAAT TATATATTATATAATAATATATAATTATATATTATATATAATATATAATT ATATATTATATAATAATATATAATTATTAATATATAATTATATATAATAT ATTATTATATTAAATAATTATATATAATTTTATATATTATATATAATTAT ATATTATATAATAACATATAATTATATATAATATATAAATATATAATATA TAAATATATAATATATAAATATATTATA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	316	0.0032	427	c.622 others(442): Show c.622-596_622-595insTATAATTATATATTATATCTAATTATATAT AATATATATATATTATATATATAATAATATATATACAATATATAATTATA TATTATATAATTATATATAATATATAATTATATATTATATATAATATATA ATTATATATTATATAATAATATATAATTATATATTATATATAATATATAA TTATATATTATATAATAATATATAATTATATATTATATATAATATATAAT TATATATTATATAATAATATATAATTATTAATATATAATTATATATAATA TATTATTATATTAAATAATTATATATAATTTTATATATTATATATAATTA TATATTATATAATAACATATAATTATATATAATATATAAATATATAATAT ATAAATATATAATATATAAATATATTATAATATAATTATATATAATA	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
MACF1_chr1_39199695_39492138	39234647	A A	ACCCCCCC others(420): Show ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGAGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGAC CGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACC CCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGA GGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGG GTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGG GCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGG CGGCTGGCCTGGCGGGGGGCTGACCCCC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG03704.hp1 HG01433.hp1 HG03704.hp1	a0001 a0013 a0001 a0013	a0001c0012 a0013c0019 a0001c0012 a0013c0019	a0001c0012t0001 a0013c0019t0001 a0001c0012t0001 a0013c0019t0001	a0001c0012t0001g0060 a0013c0019t0001g0086 a0001c0012t0001g0060 a0013c0019t0001g0086	2	246	0.0081	427	c.171 others(444): Show c.171+3422_171+3423insGGACGGGGCGGCTGGCCGGGCGGGGAGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCT GACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTG ACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGAT GGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGAC GGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATG GGGCGGCTGGCCTGGCGGGGGGCTGACCCCCCCCCCCCACCTCCCTCCC	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	2/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39234647	A A	ACCCCCCC others(420): Show ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGAC CGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACC CCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGA GGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGG GTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGG GCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGG CGGCTGGCCTGGCGGGGGGCTGACCCCC	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0045 a0045	a0045c0045 a0045c0045	a0045c0045t0001 a0045c0045t0001	a0045c0045t0001g0100 a0045c0045t0001g0100	1	246	0.0041	427	c.171 others(444): Show c.171+3422_171+3423insGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCT GACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTG ACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGAT GGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGAC GGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATG GGGCGGCTGGCCTGGCGGGGGGCTGACCCCCCCCCCCCACCTCCCTCCC	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	2/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MALRD1_chr10_19043801_19739478	19315431	A A	ATATAATT others(420): Show ATATAATTTATATAAATATATAAATATAATTTATAGAAATATAATTTATA TAAATATATAAATATAATTTATAGAAATATAATTTATATAAATATATAAA TATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTATAG AAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAATTTA TATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATATA ACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTAT ATAAATATATAACTATAATTTATATAAATATATAACTATAATTTATATAA ATATATAACTATAATTTATATAAATATATAACTATAATTTATATAAATAT ATAACTATAATTTATATAAATATATAAC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0004 a0004	a0004c0015 a0004c0015	a0004c0015t0001 a0004c0015t0001	a0004c0015t0001g0122 a0004c0015t0001g0122	1	152	0.0066	427	c.342 others(446): Show c.3420-8498_3420-8497insAAATATAATTTATAGAAATATAATTT ATATAAATATATAAATATAATTTATAGAAATATAATTTATATAAATATAT AAATATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTA TAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAAT TTATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATAT ATAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATT TATATAAATATATAACTATAATTTATATAAATATATAACTATAATTTATA TAAATATATAACTATAATTTATATAAATATATAACTATAATTTATATAAA TATATAACTATAATTTATATAAATATATAACTATAATTTATATAAATATA T	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MBTPS1_chr16_84048763_84121942	84051816	C C	CCGCATGT others(420): Show CCGCATGTGCGTAAGGACAGCTGCAAGACCCCCATGTGGGTAAGGAGAGC GGCAAGGCCCCATGTGGGTAAGGAGAGCGGCAAGGCCCGCATGTGGGTAA GGAGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGCTGCAAGGCCCGCATG TGCGTAAGGACAGCTGCAAGACCCCCATGTGGGTAAGGAGAGCGGCAAGG CCCCATGTGGGTAAGGAGAGCGGCAAGGCCCGCATGTGGGTAAGGAGAGC TGCAAGGCCGCATGTGGGTAAGGAGAGCTGCAAGGCCCGCATGTGCGTAA GGACAGCTGCAAGACCCCCATGTGGGTAAGGAGAGCGGCAAGGCCCCATG TGGGTAAGGAGAGCGGCAAGGCCCGCATGTGGGTAAGGAGAGCTGCAAGG CCGCATGTGGGTAAGGAGAGCTGCAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0090 a0001c0001t0028g0090	1	424	0.0024	427	c.26 others(438): Show c.2632_*2633insCCTTGCAGCTCTCCTTACCCACATGCGGCCTTGC AGCTCTCCTTACCCACATGCGGGCCTTGCCGCTCTCCTTACCCACATGGG GCCTTGCCGCTCTCCTTACCCACATGGGGGTCTTGCAGCTGTCCTTACGC ACATGCGGGCCTTGCAGCTCTCCTTACCCACATGCGGCCTTGCAGCTCTC CTTACCCACATGCGGGCCTTGCCGCTCTCCTTACCCACATGGGGCCTTGC CGCTCTCCTTACCCACATGGGGGTCTTGCAGCTGTCCTTACGCACATGCG GGCCTTGCAGCTCTCCTTACCCACATGCGGCCTTGCAGCTCTCCTTACCC ACATGCGGGCCTTGCCGCTCTCCTTACCCACATGGGGCCTTGCCGCTCTC CTTACCCACATGGGGGTCTTGCAGCTGTCCTTACGCACATGCG	MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding		1946		chr16	TogoVar
MLPH_chr2_237482251_237560322	237543265	T T	TGGGGACA others(420): Show TGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAG TGGGGACAGTGGTGAGTGGGGGGATGGTGAGTGGGCACGGTGGTGAGTGG GGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGG GGGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTGG GGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACAGTGGTGAGTGG GCACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAG TGGGGGGACAGTGGTGAGTGGAGGGACAGTGGTGAGTGGAGGGGACAGTG GTGAGTGGGGACAGTGGTGAGTGGAGGGACAGTGGTGAGTGGGGGGACAG TGGTGAGTGGAGGGGACAGTGGTGAGTG	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	286	0.0035	427	c.153 others(444): Show c.1539+610_1539+611insACAGTGGTGAGTGGGGACAGTGGTGAGT GGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGATGGTGAGTG GGCACGGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGG GGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACAGTGGTGAGTG GGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTG GGCACAGTGGTGAGTGGGCACAGTGGTGAGTGGGGGGACAGTGGTGAGTG GAGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGAGGGACAGTGGT GAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGAGGGACAGT GGTGAGTGGGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MPPED1_chr22_43407014_43512848	43432640	A A	AGGGAGGA others(420): Show AGGGAGGAGAGAGAGGGAAAGAGAGAGAGAAGGGGAGGAGAGAGAGAAAG GGAGGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGG GAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAG GGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGGGAAAGAGAAAGGGAG GAGAGAGAGGGAAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAGAGAGA GAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAG AGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAG GGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGA AAGGGAGGAGAGGGAAAGAGAAAGGGAG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03669.hp1 HG04228.hp2 others(5): Show HG03017.hp1 HG03669.hp1 HG04228.hp2 NA18942.hp2 NA18944.hp2 NA18947.hp2 NA18961.hp1 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0013 a0001c0001 a0001c0004 a0001c0013	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0004t0001 a0001c0013t0026	a0001c0001t0002g0176 a0001c0001t0004g0134 a0001c0001t0004g0181 others(5): Show a0001c0001t0002g0176 a0001c0001t0004g0134 a0001c0001t0004g0181 a0001c0001t0004g0228 a0001c0001t0008g0179 a0001c0001t0008g0226 a0001c0004t0001g0227 a0001c0013t0026g0177	8	250	0.0320	427	c.225 others(444): Show c.225-2393_225-2392insGGAGGAGAGAGAGGGAAAGAGAGAGAGA AGGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAAAG GGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGA AAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAG AGAGGGAAAGAGAAAGGGAGGAGAGAGAGGGAAAGAGAGAAGGGGAGGAG AGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGA GAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAA GGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAG AGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGGGAAAGAGAAAGGGAGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537575	T T	TGTCCGGG others(420): Show TGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGATCGGCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGTGGGGGGGTCGGCCCTCCTGCCCTGCCAGCCGCCCC GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGATGGAGGTGGGGGGGG GTCAGTCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGG GTCAGTCCCCCGCCTGGCCAGCCGTGCC	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	256	0.0039	427	c.241 others(446): Show c.241+14530_241+14531insGGCACGGCTGGCCAGGCGGGGGACTG ACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGACTG ACCCCCCCCCACCTCCATCCTGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCAGGGCAGGAGGGCCGACCCCCCCACACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGA C	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537575	T T	TGTCCGGG others(420): Show TGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGTGGGGGGGTCGGCCCTCCTGCCCTGCCAGCCGCCCC GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGATGGAGGTGGGGGGGG GTCAGTCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGG GTCAGTCCCCCGCCTGGCCAGCCGTGCC	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA18951.hp2 NA18952.hp2 others(2): Show HG02165.hp1 NA18951.hp2 NA18952.hp2 NA18973.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0037 a0001c0001t0002g0029 a0001c0001t0002g0042 others(2): Show a0001c0001t0001g0037 a0001c0001t0002g0029 a0001c0001t0002g0042 a0001c0001t0002g0060 a0001c0001t0002g0225	5	256	0.0195	427	c.241 others(446): Show c.241+14530_241+14531insGGCACGGCTGGCCAGGCGGGGGACTG ACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGACTG ACCCCCCCCCACCTCCATCCTGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCAGGGCAGGAGGGCCGACCCCCCCACACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGA C	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MSLN_chr16_755734_773862	767619	G G	GGCGTGGA others(420): Show GGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGG GGGGCGTGGAGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGC GCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTC GCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAG GGGCGCGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGGCACGTGGAGG GGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCG TGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGG GCGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGGCACGTGGAGGGGGG CGTGTGGGGGGGTGCGTGGAGGAGGGGC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	388	0.0026	427	c.159 others(444): Show c.1596+173_1596+174insGGGGCGCGTGGGGGGGGCGCATGGGGGG GCGTGGAGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCA TGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCG TGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGG CGCGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGGCACGTGGAGGGGG GCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGG AGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGGGCG TGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGGCACGTGGAGGGGGGCGT GTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767629	A A	AGGGGCGC others(420): Show AGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGTGTG GAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGGGGTGCGT GGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGGGGGGT GCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGCGCGTGGA GGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGG GGGCACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTG GAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGG GGGGAGCGTGGGGGGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGG AGGGGGCCGTGTGGGGGGGGCGTGGAGG	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0039 a0039	a0039c0073 a0039c0073	a0039c0073t0001 a0039c0073t0001	a0039c0073t0001g0027 a0039c0073t0001g0027	1	388	0.0026	427	c.159 others(444): Show c.1596+173_1596+174insGGGCCGTGTGGGGGGGCGTGGAGGAGGG GCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGG GGTGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTG GGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGC GCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGT GTGGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGG GCGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCG TGGAGGGGGGGAGCGTGGGGGGCGTGGAGGAGGGGCGCGTGGAGGAGGGG CGCGTGGAGGGGGCCGTGTGGGGGGGGCGTGGAGGGGGGCGCGTGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MXRA5_chrX_3303565_3351652	3326168	T T	TTTATAAT others(420): Show TTTATAATATATAATTTATAATTATAATTTATAATATATAATTTATAATT ATAAATTATAAATTATAATATATAATTTATATATTATAAATTTATAATAT ATATATATAATTTATATATTATAATTTATAATATATAATTTATAATTATA AGTTATATATTATAATTTTTAATTATAAGTTATAATATATAATTTATAAT TATAAGTTATAATATATAACTTATAAGTTATAATATATAACTTATAAGTT ATAATATATAACTTATAAGTTATAATATATAACTTATAAGTTATAATATA TAACTTATAAGTTATAATATATAACTTATAAGTTATAATATATAACTTAT AATTATAAGTTATAATATATAACTTATAAGTTATAATATATAACTTATAA GTTATAATATATAACTTATAATTATAAG	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA19054.hp2 NA19063.hp1 HG02622.hp1 NA19054.hp2 NA19063.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0009 a0001c0001 a0010c0009	a0001c0001t0001 a0010c0009t0002 a0001c0001t0001 a0010c0009t0002	a0001c0001t0001g0028 a0001c0001t0001g0038 a0010c0009t0002g0017 a0001c0001t0001g0028 a0001c0001t0001g0038 a0010c0009t0002g0017	3	284	0.0106	427	c.710 others(444): Show c.710-1194_710-1193insCTTATAATTATAAGTTATATATTATAAC TTATAAGTTATATATTATAACTTATAAGTTATATATTATAACTTATAATT ATAAGTTATATATTATAACTTATAAGTTATATATTATAACTTATAAGTTA TATATTATAACTTATAAGTTATATATTATAACTTATAAGTTATATATTAT AACTTATAAGTTATATATTATAACTTATAAGTTATATATTATAACTTATA ATTATAAATTATATATTATAACTTATAATTAAAAATTATAATATATAACT TATAATTATAAATTATATATTATAAATTATAATATATAAATTATATATAT ATATTATAAATTTATAATATATAAATTATATATTATAATTTATAATTTAT AATTATAAATTATATATTATAAATTATAATTATAAATTATATATTATAA	MXRA5	ENSG00000101825.8	transcript	ENST00000217939.7	protein_coding	4/6			chrX	TogoVar
MYT1L_chr2_1784113_2336275	2083743	G G	GCTTAGAG others(420): Show GCTTAGAGGGGAGGGAGACCACTCCATCAGTAAGCCCATGTGCTGATGAC TTCCTATACTCATTTTAGTATAGACTGAGAGGGCTAACAAGGAAAGGAAA GTTCAGTTCTTAGAGGGGAGGGAGACCACTCCATCAGTAAGCCCATGTGC TGATGACTTTCTATACTCATTTTAGTGTAGACCGAGAAGGCTACTAAGGA ACAGAAAATTCAGTTCTTAGAGGGAGGGAGACCACTCCATCAGTAAGCCC ATGTGCTGATGCCTTCCTATATTCATTTTAGTATAGACTGAGAGGGCTAA CAAGGAATGGAAAGTTCAGTTCTTAGAAGGGAGGGAGACCACTCCATCAG TAAGCCCATGTGCTGATGACTTCCTATACTCATTTTAGTATAGACTGAGA GGGCTACTAAGGAACGGAAAGTTCAGTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0096 a0001c0003t0010g0096	1	104	0.0096	427	c.-30 others(448): Show c.-303-30047_-303-29621dupAACTGAACTTTCCGTTCCTTAGTA GCCCTCTCAGTCTATACTAAAATGAGTATAGGAAGTCATCAGCACATGGG CTTACTGATGGAGTGGTCTCCCTCCCTTCTAAGAACTGAACTTTCCATTC CTTGTTAGCCCTCTCAGTCTATACTAAAATGAATATAGGAAGGCATCAGC ACATGGGCTTACTGATGGAGTGGTCTCCCTCCCTCTAAGAACTGAATTTT CTGTTCCTTAGTAGCCTTCTCGGTCTACACTAAAATGAGTATAGAAAGTC ATCAGCACATGGGCTTACTGATGGAGTGGTCTCCCTCCCCTCTAAGAACT GAACTTTCCTTTCCTTGTTAGCCCTCTCAGTCTATACTAAAATGAGTATA GGAAGTCATCAGCACATGGGCTTACTGATGGAGTGGTCTCCCTCCCCTCT AAG	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	3/24			chr2	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAT others(420): Show CTGTATATATGTACAGCATGTATACTGTGTACAGCATGTATACTGTGTAC AGCATGTATACTGTATGTATGTATACTGTATGTATGTATACTGTATGTAT GTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGT ATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTAT ACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATAC TGTGTATGCAGTATGTATACAGTATACATACTGCATGCAGTATGTATACT GTATACATACTGCATGCAGTATGTATACTGTATATATACACTATACAGTA TGTATACTGTATATATACACACAGTATGTATACTGTATATATACACACAG TATGTATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0008 a0008	a0008c0019 a0008c0019	a0008c0019t0003 a0008c0019t0003	a0008c0019t0003g0205 a0008c0019t0003g0205	1	362	0.0028	427	c.-75 others(446): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTATAGTGTATATATACAGTATACATACTGCATGCAGTATGTAT ACAGTATACATACTGCATGCAGTATGTATACTGTATACATACTGCATACA CAGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACG GTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGT ATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTAT ACATACATACAGTATACATACATACAGTATACATACATACAGTATACATG CTGTACACAGTATACATGCTGTACACAGTATACATGCTGTACATATATAC A	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(420): Show CTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTGTACAGCATG TATACTGTATGTATGTATACCGTATATATACACAGTATGTATACCGTATA TATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATATA TACACAGTATGTATACTGTGTATGCAGTATGTATACAGTATACATACTGC ATGCAGTATGTATACTGTATACATACTGCATGCAGTATGTATACTGTATA TATACACTATACAGTATGTATACTGTATATATACACTATACAGTATGTAT ACTGTATATATACACAATACAGTATGTATACTGTATATATACACACAGTA TGTATACTGTATATATACACACAGTATGTATACTGTATATATACACACAG TATGTATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0127 a0001c0002t0003g0127	1	362	0.0028	427	c.-75 others(446): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTATTGTGTATATATACA GTATACATACTGTATAGTGTATATATACAGTATACATACTGTATAGTGTA TATATACAGTATACATACTGCATGCAGTATGTATACAGTATACATACTGC ATGCAGTATGTATACTGTATACATACTGCATACACAGTATACATACTGTG TATATATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTA TATATACGGTATACATACTGTGTATATATACGGTATACATACATACAGTA TACATGCTGTACACAGTATACATGCTGTACACAGTATACATGCTGTACAC A	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NME4_chr16_392199_405754	397716	G G	GTGAGGGA others(420): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGTGGGGGGGC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0166 a0001c0002t0001g0166	1	356	0.0028	427	c.91+ others(440): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGTGGGGGGGCTGAGGGAGTCGGGGGGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NRDE2_chr14_90262860_90336941	90300885	G G	GGGGAGGG others(420): Show GGGGAGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGGGGGAGGGGAG GGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGG GGGAGGGGTGGGGGAGGGAGAGGGGAAAGGGAGAGGGGAAAGGGAGGGGA TGGGGGAGGGAGAAGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGG GAGGGGGAGGGGGAAGGGAGGGGGAGGGGGAGGGGAAGGGGAGGAAGAGG GGAGGGGAGGAGGAAGGGGAGGGGGAGGGGGAGGGGAAAGGAGGAGGAAG GGGGAGGGGGAAGGGGAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGAGG GGGAAGGGAGGGGAGGGGAGGAGGGGGGAGGGAGAGGGGAGGGGAGGAAG AAGGGGAAGGGGGAGGGGAGGGGAGGAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0191 a0001c0001t0076g0191	1	344	0.0029	427	c.154 others(444): Show c.1545+353_1545+354insTTCCTCCCCTCCCCTCCCCCTTCCCCTT CTTCCTCCCCTCCCCTCTCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCC CCTCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCC CTTCCTCCTCCTTTCCCCTCCCCCTCCCCCTCCCCTTCCTCCTCCCCTCC CCTCTTCCTCCCCTTCCCCTCCCCCTCCCCCTCCCTTCCCCCTCCCCCTC CCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCTTCTCCCTCCCCCA TCCCCTCCCTTTCCCCTCTCCCTTTCCCCTCTCCCTCCCCCACCCCTCCC CCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CTCCCCTCCCCCTCCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCCTCCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NRXN2_chr11_64601174_64728197	64706162	A A	ATATATAA others(420): Show ATATATAATATATATTATATATATAAAGTATATATATAATATATATAATA TATATTATATATATAAAGTATATATATAATATATATAATATATATTATAT ATAAAGTATATATATAATATATATAATATATATTATATATAAAGTATATA TATAATATATATAATATATATTATATATATAAAGTATATATATAATATAT ATAATATATATTATATATATAAAGTATATATATAATATATATAATATATA TTATATATATAAAGTATATATATAATATATATAATATATATTATATATAT AAAGTATATATATAATATATAATATATATTATATATAAAGTATATATATA ATATATATTATATATAAAGTATATATATAATATATATTATATATATATAA AATATATAATATATATTATATATATAAG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG02630.hp1 others(5): Show HG01891.hp2 HG02055.hp1 HG02630.hp1 HG03041.hp2 HG03098.hp2 HG03209.hp1 HG03225.hp2 HG03579.hp2	a0001 a0008 a0013 a0001 a0008 a0013	a0001c0003 a0008c0028 a0013c0036 a0001c0003 a0008c0028 a0013c0036	a0001c0003t0002 a0008c0028t0002 a0013c0036t0002 a0001c0003t0002 a0008c0028t0002 a0013c0036t0002	a0001c0003t0002g0140 a0001c0003t0002g0233 a0001c0003t0002g0234 others(5): Show a0001c0003t0002g0140 a0001c0003t0002g0233 a0001c0003t0002g0234 a0001c0003t0002g0289 a0001c0003t0002g0290 a0001c0003t0002g0291 a0008c0028t0002g0297 a0013c0036t0002g0298	8	308	0.0260	427	c.730 others(444): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATATAATATATATTATATATATACTTTATATATAATATATAT TATATATATACTTTATATATAATATATATTATATATTATATATATACTTT ATATATATAATATATATTATATATATTATATATATACTTTATATATATAA TATATATTATATATATTATATATATACTTTATATATATAATATATATTAT ATATATTATATATATACTTTATATATATAATATATATTATATATATTATA TATATACTTTATATATAATATATATTATATATATTATATATATACTTTAT ATATAATATATATTATATATATTATATATATACTTTATATATATAATATA TATTATATATATTATATATATACTTTATATATATAATATATATTATATA	NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22			chr11	TogoVar
NXN_chr17_794310_984776	841381	T T	TGCATCTC others(420): Show TGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACAGAGCATCTCACA CCCGCGAGCAGGTCCTCCCTGACCACGGCGCATCTCACACGGGCGAGCAG GTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGA CCACGGCGCATCTCACACCCGCGAGCAGGTCCTCCCGACCACGGCGCATC TCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCG AGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCC CCTGACCACGGCGCATCTCACACCCGCGAGCAGGTCCTCCCGACCACGGC GCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACAGAGCATCTCACAC GGGCGAGCAGGTCCCCCCTGACCACGGA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0197 a0002c0005t0004g0197	1	242	0.0041	427	c.361 others(446): Show c.361-15304_361-15303insTCCGTGGTCAGGGGGGACCTGCTCGC CCGTGTGAGATGCTCTGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGAT GCGCCGTGGTCGGGAGGACCTGCTCGCGGGTGTGAGATGCGCCGTGGTCA GGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTG CTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGT GAGATGCGCCGTGGTCGGGAGGACCTGCTCGCGGGTGTGAGATGCGCCGT GGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGG ACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGAGGACCTGCTCGCG GGTGTGAGATGCTCTGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATG C	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841420	C C	CGCATCTC others(420): Show CGCATCTCACACCCGTGAGCAGGTCCTCCCGACCACGGAGCATCTCACAC GGGCGAGCGGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGG TCCCCCCGACCACAGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGACC ACGGAGCATCTCACACTGGCGAGCAGGTCCCCCCTGACCACGGCGCATCT CACGCCGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACGCCGGCGA GCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCC CTGACCACGGCGCATCTCACGCCGGCGAGCAGGTCCCCCCTGACCACGGA GCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACAC GGGCGAGCAGGTCCCCCCTGACCACGGA	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0151 a0001c0001t0022g0151	1	242	0.0041	427	c.361 others(446): Show c.361-15343_361-15342insTCCGTGGTCAGGGGGGACCTGCTCGC CCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGAT GCTCCGTGGTCAGGGGGGACCTGCTCGCCGGCGTGAGATGCGCCGTGGTC AGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCT GCTCGCCGGCGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCGGCG TGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCAGTGTGAGATGCTCC GTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCTGTGGTCGGGGG GACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCCGCTCGC CCGTGTGAGATGCTCCGTGGTCGGGAGGACCTGCTCACGGGTGTGAGATG C	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841603	C C	CTGACCAC others(420): Show CTGACCACAGCGCATCTCACACCCGCGAGCAGGTCCCCCCTGACCACAGC GCATCTCACACCCGCGAGCAGGTCCTCCCCTGACCACGGCGCATCTCACG CCGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAG GTCCCCCCGACCACGGCGCATCTCACACCCACAGGCAGGTCCCCCCGACC ACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCT CACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCATGCCGGCGA GCAGGTCCCCCCGACCACGGCGCATCTCACACCCACGGGCAGGTCCCCCC GACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGCGC ATCTCACACCCACAGGCAGGTCCCCCCT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	242	0.0041	427	c.361 others(446): Show c.361-15526_361-15525insAGGGGGGACCTGCCTGTGGGTGTGAG ATGCGCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGG TCGGGGGGACCTGCCCGTGGGTGTGAGATGCGCCGTGGTCGGGGGGACCT GCTCGCCGGCATGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTG TGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCC GTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCGCCGTGGTCGGGGGG ACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCC GGCGTGAGATGCGCCGTGGTCAGGGGAGGACCTGCTCGCGGGTGTGAGAT GCGCTGTGGTCAGGGGGGACCTGCTCGCGGGTGTGAGATGCGCTGTGGTC A	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PKP3_chr11_389209_409908	401808	G G	GGCCCCGC others(420): Show GGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCC CCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCG CTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCA CACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCC CGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGGC CCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCC GCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTC ACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCAGCCCCGCTCACA CCCGCCCCGCTCACCCCCGGCCCCGCTC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0156 a0001c0003t0001g0156	1	216	0.0046	427	c.173 others(446): Show c.1737+1103_1737+1104insGCCCCGCTCACACCCGCCCCGCTCAC ACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGGCCCCGCTCACACC CGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGC CCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGC TCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCA CACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACAC CCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCG CCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCC GCTCACCCCCAGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCT C	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PLPP2_chr19_276043_296403	291614	G G	GGGGGACG others(420): Show GGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGGGA GGGCAGCAGGGGAGAGGGGAGGAGGGGAGGGGCGGGGAGGGGAGGGGAGG AGGGAGGGGGAGGGGAGGAGGGAGGGGGGACGGCAGCGGCGGGCAGGGGA GCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGAGGGGAGGGAGGGG AAGGGGAGGAGGGGGGGAGGGGAGGGGAGGAAGGCGGGGACGGCAGCGGC GGGCAGGGGAGCAGCGGGCGGGGCGGGGAGGAGGGGAGGGTTAGGGGCGG GGAGGGGAGGAGGGAGGGGGAGGGGAGGAGGGGCGGGGAGGGGAGAGGGG GAGGGGAGGAGGGAGGGGGAGGGGAGGAGGGGCGGGGAGGGGAGAGGGGG GAGGGGAGGAGGGAGGGGGGAGGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	354	0.0028	427	c.-27 others(436): Show c.-279_-278insTCTCCCCTCCCCCCTCCCTCCTCCCCTCCCCCCTCT CCCCTCCCCGCCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCTC CCCTCCCCGCCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCGCCCCT AACCCTCCCCTCCTCCCCGCCCCGCCCGCTGCTCCCCTGCCCGCCGCTGC CGTCCCCGCCTTCCTCCCCTCCCCTCCCCCCCTCCTCCCCTTCCCCTCCC TCCCCTCCTCCCCGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTCCCCTGC CCGCCGCTGCCGTCCCCCCTCCCTCCTCCCCTCCCCCTCCCTCCTCCCCT CCCCTCCCCGCCCCTCCCCTCCTCCCCTCTCCCCTGCTGCCCTCCCCTCC CCGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTGCCGTCCCC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		212		chr19	TogoVar
PLPP2_chr19_276043_296403	291614	G G	GGGGGACG others(420): Show GGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGGGA GGGCAGCAGGGGAGAGGGGAGGAGGGGAGGGGCGGGGAGGGGAGGGGAGG AGGGAGGGGGAGGGGAGGAGGGAGGGGGGACGGCAGCGGCGGGCAGGGGA GCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGAGGGGAGGGAGGGG AAGGGGAGGAGGGGGGGGAGGGGAGGGGAGGAAGGCGGGGACGGCAGCGG CGGGCAGGGGAGCAGCGGGCGGGGCGGGGAGGAGGGGAGGGTTAGGGGCG GGGAGGGGAGGAGGGAGGGGGAGGGGAGGAGGGGCGGGGAGGGGAGAGGG GGAGGGGAGGAGGGAGGGGGAGGGGAGGAGGGGCGGGGAGGGGAGAGGGG GGAGGGGAGGAGGGAGGGGGAGGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0198 a0002c0002t0001g0198	1	354	0.0028	427	c.-27 others(436): Show c.-279_-278insTCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCCTCTC CCCTCCCCGCCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCTCC CCTCCCCGCCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCGCCCCTA ACCCTCCCCTCCTCCCCGCCCCGCCCGCTGCTCCCCTGCCCGCCGCTGCC GTCCCCGCCTTCCTCCCCTCCCCTCCCCCCCCTCCTCCCCTTCCCCTCCC TCCCCTCCTCCCCGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTCCCCTGC CCGCCGCTGCCGTCCCCCCTCCCTCCTCCCCTCCCCCTCCCTCCTCCCCT CCCCTCCCCGCCCCTCCCCTCCTCCCCTCTCCCCTGCTGCCCTCCCCTCC CCGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTGCCGTCCCC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		212		chr19	TogoVar
RASA3_chr13_113972783_114137623	114099662	A A	AGCAGCCC others(420): Show AGCAGCCCCCCCACAGCCCCCACAGCCCCCCACAGCAGCCCCCCCACAGC CCCCACACAGCCCCCACAGCAGCCCCCCGTAGCCCCCACAGCAGCCCCCC CACAGCCCCCCACAGCAGCCCCCCCACAGCCCCCCACAGCCCCCCCAGCA GCCCCCACACAGCCCCCACAGCAGCCCCCCCACAGCCCCCCCACAGCCCC CCACAGCCCCCCCAGCAGCCCCCACAGCAGCCCCCCCCACAGCACCCCCC ACAGCAGCCCCCCCACAGCAGCCCCCCCACAGCAGCCCCCCCACAGCCCC CCACAGCCCCCCCAGCAGCCCCCACACAGCCCCCACAGCAGCCCCCCCAC AGCCCCCCCACAGCCCCCCACAGCCCCCCCAGCAGCCCCCACAGCAGCCC CCCCACAGCCCCCCCACAGCCCCCACAG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0019 a0001c0002t0002g0019	1	67	0.0149	427	c.56- others(444): Show c.56-25826_56-25825insCTGTGGGGGCTGTGGGGGGGCTGTGGGG GGGCTGCTGTGGGGGCTGCTGGGGGGGCTGTGGGGGGCTGTGGGGGGGCT GTGGGGGGGCTGCTGTGGGGGCTGTGTGGGGGCTGCTGGGGGGGCTGTGG GGGGCTGTGGGGGGGCTGCTGTGGGGGGGCTGCTGTGGGGGGGCTGCTGT GGGGGGTGCTGTGGGGGGGGCTGCTGTGGGGGCTGCTGGGGGGGCTGTGG GGGGCTGTGGGGGGGCTGTGGGGGGGCTGCTGTGGGGGCTGTGTGGGGGC TGCTGGGGGGGCTGTGGGGGGCTGTGGGGGGGCTGCTGTGGGGGGCTGTG GGGGGGCTGCTGTGGGGGCTACGGGGGGCTGCTGTGGGGGCTGTGTGGGG GCTGTGGGGGGGCTGCTGTGGGGGGCTGTGGGGGCTGTGGGGGGGCTGC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RGPD5_chr2_109789305_109862705	109794573	A A	ACCCGGCC others(420): Show ACCCGGCCGGGGGGGGAGGGGGGGGGCGGCGGCGGCGGCCTCGGCCCGGC CGGGGGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCTCGGCCCGGCC GGGGGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCGGC GGCGGCCTCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCCTCG GCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGG GGGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCGGGGGGCGGCGG CGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCGGCGGC GGCGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCGGGGGGCGGCG GCGGCGGCGGCGGCGGCGGCGGCCCCGG	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	40	0.0250	427	c.72+ others(438): Show c.72+49_72+50insGGAGGGGGGGGGCGGCGGCGGCGGCCTCGGCCCG GCCGGGGGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCTCGGCCCGG CCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCG GCGGCGGCCTCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCCT CGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCGGCC GGGGGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCGGGGGGCGGC GGCGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCGGCG GCGGCGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCGGGGGGCGG CGGCGGCGGCGGCGGCGGCGGCGGCCCCGGCCCGGCCGGGGGG	RGPD5	ENSG00000015568.13	transcript	ENST00000016946.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RGS12_chr4_3288021_3444913	3310279	T T	TGGGGGAG others(420): Show TGGGGGAGGAGCTGGGACCCGGGAAATGGCAGGTGTCCTCTGAGGAGAGC TGAGCAGGAGAGGAGCTGGGGCCTGGAAATGGCAGGTGTCTGCTGAGGGG AAATGTGTTGAGGAGGAGCTGGGACCTGGGAATGGCAGGTGTCCGCTGAG GGGAACCGTGTGGGGGAGGAGCTGGGACCCGGGAAATGGCAGGTGTCCTC TGAGGGGAACCGTGTGGGGGAGGAGCTGGGACCCGGGAAATGGCAGGTGT CCTCTGAGGAGAGCTGAGCAGGAGAGGAGCTGGGGCCTGGAAATGGCAGG TGTCTGCTGAGGGGAACCGTGTTGAGGAGGAGCTGGGACTCGGGAATGGC AGGTGTCTGCTGAGGAGAACCGGGTGGGAGAGGAGCTGGGATCCGGGAAT GGCAGGTGTCCGCTGAGGGGAACCGTGC	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0036 a0001c0007t0001g0036	1	312	0.0032	427	c.-10 others(446): Show c.-101-5791_-101-5790insGGGGGAGGAGCTGGGACCCGGGAAAT GGCAGGTGTCCTCTGAGGAGAGCTGAGCAGGAGAGGAGCTGGGGCCTGGA AATGGCAGGTGTCTGCTGAGGGGAAATGTGTTGAGGAGGAGCTGGGACCT GGGAATGGCAGGTGTCCGCTGAGGGGAACCGTGTGGGGGAGGAGCTGGGA CCCGGGAAATGGCAGGTGTCCTCTGAGGGGAACCGTGTGGGGGAGGAGCT GGGACCCGGGAAATGGCAGGTGTCCTCTGAGGAGAGCTGAGCAGGAGAGG AGCTGGGGCCTGGAAATGGCAGGTGTCTGCTGAGGGGAACCGTGTTGAGG AGGAGCTGGGACTCGGGAATGGCAGGTGTCTGCTGAGGAGAACCGGGTGG GAGAGGAGCTGGGATCCGGGAATGGCAGGTGTCCGCTGAGGGGAACCGTG C	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	1/17			chr4	TogoVar
RIN2_chr20_19753258_20007456	19924282	T T	TTCACACC others(420): Show TTCACACCCCACCTTCATACCCCCACCTTCATACCCCCACTTTCCATACC CCTACCTTCATTCCCCACCTTTTCATACCCCCACCTTCATACCCTACCTC TTTATACCCCCACCTTCATACCCCCACCTTCATACCCCCACCTTCATACC CCCACCTTCATACCCCACCTTCATACACCCACCTTCATACCCCACCTTCA TACCCTCACCTTCATACCCTCACCTCCATACCTCACCTTCCTACCCCCAC CTTCATACCCCACCTTCATACCCTCACCTTCATACCCTCACCTCCATACC CTCACCTTCATACCCTCACCTTCATACCCCACCTTCATACCCTCACCTTC ATACCCCCACCTTCATACCCCACCTTCATACCCTCACCTTCATACCCTCA CCTCCATACCCCACCTTCATACCCCACC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01361.hp1 HG01975.hp1 HG01175.hp2 HG01361.hp1 HG01975.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0002c0004 a0001c0002 a0002c0003 a0002c0004	a0001c0002t0002 a0002c0003t0004 a0002c0004t0005 a0001c0002t0002 a0002c0003t0004 a0002c0004t0005	a0001c0002t0002g0149 a0002c0003t0004g0055 a0002c0004t0005g0139 a0001c0002t0002g0149 a0002c0003t0004g0055 a0002c0004t0005g0139	3	276	0.0109	427	c.58- others(444): Show c.58-10816_58-10815insCACACCCCACCTTCATACCCCCACCTTC ATACCCCCACTTTCCATACCCCTACCTTCATTCCCCACCTTTTCATACCC CCACCTTCATACCCTACCTCTTTATACCCCCACCTTCATACCCCCACCTT CATACCCCCACCTTCATACCCCCACCTTCATACCCCACCTTCATACACCC ACCTTCATACCCCACCTTCATACCCTCACCTTCATACCCTCACCTCCATA CCTCACCTTCCTACCCCCACCTTCATACCCCACCTTCATACCCTCACCTT CATACCCTCACCTCCATACCCTCACCTTCATACCCTCACCTTCATACCCC ACCTTCATACCCTCACCTTCATACCCCCACCTTCATACCCCACCTTCATA CCCTCACCTTCATACCCTCACCTCCATACCCCACCTTCATACCCCACCT	RIN2	ENSG00000132669.14	transcript	ENST00000255006.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
RPA3_chr7_7631518_7723607	7678970	T T	TTATATAT others(420): Show TTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATAT ATATTTATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATAT TTATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATATTTAT TTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTAT TTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATTTACATAT TTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTAC ATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATAT TTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAC ATATTTATATATTTAATTTATAAATATA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02717.hp1 HG03139.hp2 others(2): Show HG02486.hp1 HG02717.hp1 HG03139.hp2 NA19030.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0295 a0001c0001t0005g0001 a0001c0001t0005g0296 a0001c0001t0001g0295 a0001c0001t0005g0001 a0001c0001t0005g0296	5	308	0.0162	427	c.-75 others(446): Show c.-758+6859_-758+6860insTATATTTATAAATTAAATATATAAAT ATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATATGT AAATATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAAT ATGTAAATATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACT AAATATGTAAATATTTATAAACTAAATATGTAAATATATATTTATAAACT AAATAAATATATATTTATAAACTAAATATGTAAATATATATTTATAAACT AAATAAATATATATTTATAAACTAAATAAATATATATTTATAAACTAAAT AAATATATATTTATAAACTAAATAAATATATATTTATAAACTAAATAAAT ATATATTTATAAACTAAATATATAAATATATATTTATAAACTAAATATAT A	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7679000	T T	TATATTTA others(420): Show TATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATA TTTATATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATA TTTATATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATA TTTATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATATTTA CATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATTTACATA TTTAGTTTATAAATATTTACATATTTAGTTTATAAATATTTACATATTTA GTTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTACATA TTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTA CATATTTAGTTTATAAATACATATTTAC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	308	0.0033	427	c.-75 others(446): Show c.-758+6829_-758+6830insGTAAATATGTATTTATAAACTAAATA TGTAAATATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTA AATATGTAAATATGTATTTATAAACTAAATATGTAAATATGTATTTATAA ACTAAATATGTAAATATTTATAAACTAAATATGTAAATATTTATAAACTA AATATGTAAATATTTATAAACTAAATAAATATATATTTATAAACTAAATA TGTAAATATATATTTATAAACTAAATAAATATATATTTATAAACTAAATA AATATATATTTATAAACTAAATAAATATATATTTATAAACTAAATATATA AATATATATTTATAAACTAAATAAATATATATTTATAAACTAAATATATA AATATATATTTATAAACTAAATATATAAATATATATTTATAAACTAAATA T	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPH3AL_chr17_207389_357807	217432	G G	GCTAAAAT others(420): Show GCTAAAATTGGCCTCACTGAAATCAGGACCCCCAAGGCATTTCGTTCCCA TCTGGGGCAGTTATTATGGAGCCCTTTCTTCTTCTGCACTAAAATTGGCC TCGCTGAAATCAGGACCCCCAAGGCATTTCATTCCCATCTGGGGCAGTTA TTACAGAGCCCTTCTTCTGCGCTAAAATTGGCCTCACTGGAATCAGGACC CCCAAGGCATTTCGTTCCCATCTGGGGCAGTTATTATGGAGCCCTTTCTT CTTCTGCACTAAAATTGGCCTCGCTGAAATTAGGACCCCCAAGGCATTTC ATTCCTGTTTGGGGCAGTTATTACAGAGCCCTTCTTCTGCGCTAAAATTG GCCTCACTGGAATCAGGACCCCCAAGGCATTTCGTTCCCATCTGGGGCAG TTATTATGGAGCCCTTTCTTCTTCTGCA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03017.hp2 NA18906.hp1 HG02976.hp1 HG03017.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0001c0001t0001 a0001c0001t0005 a0001c0001t0010	a0001c0001t0001g0124 a0001c0001t0005g0017 a0001c0001t0010g0129 a0001c0001t0001g0124 a0001c0001t0005g0017 a0001c0001t0010g0129	3	133	0.0226	427	c.728 others(444): Show c.728-1631_728-1630insTGCAGAAGAAGAAAGGGCTCCATAATAA CTGCCCCAGATGGGAACGAAATGCCTTGGGGGTCCTGATTCCAGTGAGGC CAATTTTAGCGCAGAAGAAGGGCTCTGTAATAACTGCCCCAAACAGGAAT GAAATGCCTTGGGGGTCCTAATTTCAGCGAGGCCAATTTTAGTGCAGAAG AAGAAAGGGCTCCATAATAACTGCCCCAGATGGGAACGAAATGCCTTGGG GGTCCTGATTCCAGTGAGGCCAATTTTAGCGCAGAAGAAGGGCTCTGTAA TAACTGCCCCAGATGGGAATGAAATGCCTTGGGGGTCCTGATTTCAGCGA GGCCAATTTTAGTGCAGAAGAAGAAAGGGCTCCATAATAACTGCCCCAGA TGGGAACGAAATGCCTTGGGGGTCCTGATTTCAGTGAGGCCAATTTTAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	8/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	304998	A A	AGGGGGAC others(420): Show AGGGGGACAGGGCGAGAGGGGACAGGGCGAGAGGGGGACAGGGCGGGAGG GGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGG GACAGGGCGAGAGGGGACAGGGCAGGAGGGGGACAGGGCGGGAGGGGGAC AGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGACAGG GCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGGACAGGGC GAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGG AGGGGGACAGGGCGAGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGG GGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGG ACAGGGCGGGAGGGGGACAGGGCGGGAG	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0008 a0001c0001t0004g0008	1	133	0.0075	427	c.351 others(446): Show c.351+14421_351+14422insCTCCCGCCCTGTCCCCCTCCCGCCCT GTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTC CCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCC CTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTC TCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCC GCCCTGTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCC CTGTCCCCCTCCCGCCCTGTCCCCCTCCTGCCCTGTCCCCTCTCGCCCTG TCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTC CCCCTCCCGCCCTGTCCCCCTCTCGCCCTGTCCCCTCTCGCCCTGTCCCC C	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SAMD11_chr1_918923_949574	934567	C C	CGGGGGGG others(420): Show CGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACA GGTGGGCGGGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCT GCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGG GCGGCTGCGTTACAGGTGGGCGGGGGGGGGCGGCTGCGTTACAGGTGGGC GGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGGCGGCTGCGTTACA GGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGC GTTACAGGTGGGCGGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGG CGGCTGCGTTACAGGTGGGCGGGGGGAGGCGGCTGCGTTACAGGTGGGCG GGGGAGGCGGCTCCGTTACAGGTGGGCG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0008 a0006c0007t0008	a0006c0007t0008g0279 a0006c0007t0008g0279	1	434	0.0023	427	c.843 others(444): Show c.843-1200_843-1199insGGGCGGCTGCGTTACAGGTGGGCGGGGG AGGCGGCTCCGTTACAGGTGGGCGGGGGGGAGGCGGCTGCGTTACAGGTG GGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTA CAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGGCGGC TGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGG GGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGG CGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGGCGGCTGCGTTAC AGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGAGGCGGCT GCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SARDH_chr9_133658560_133743352	133668443	T T	TACCCTCC others(420): Show TACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCACCCTCTCTCTCCCTC ACCCTCCCTCTCCCCTCGCCCTCCCTCTCCCCTCGCCCTCCCTCTCCCCT CACCCTCACCCTCCCTCTCCCTCACCCTCACCCTCCCTCTCCCTCACCCT CCCTCTCCCCTCACCCTCTCTCTCCCTCACCCTCCCTCTCCCCTCGCCCT CCCTCTCCCCTCGCCCTCCCTCTCCCCTCACCCTCACCCTCCCTCTCCCT CACCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCCTCCCCTCCCCT CCCCCTCACCCTCATCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCACCC TCCCTCTCCCACACCCTCCCTCTCCCCTCATCCACCCTCTCCCTCACCCT CCCTCTCCCCTTACCCTCCCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0004 a0003c0012t0004	a0003c0012t0004g0038 a0003c0012t0004g0038	1	262	0.0038	427	c.249 others(446): Show c.2496-1574_2496-1573insGAGGGAGGGGGAGGGTAAGGGGAGAG GGAGGGTGAGGGAGAGGGTGGATGAGGGGAGAGGGAGGGTGTGGGAGAGG GAGGGTGAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGATGAGGGTGAGGG GGAGGGGAGGGGAGGGGAGAGGGAGGGTGAGGGGAGAGGGAGGGTGAGGG TGAGGGAGAGGGAGGGTGAGGGTGAGGGGAGAGGGAGGGCGAGGGGAGAG GGAGGGCGAGGGGAGAGGGAGGGTGAGGGAGAGAGAGGGTGAGGGGAGAG GGAGGGTGAGGGAGAGGGAGGGTGAGGGTGAGGGAGAGGGAGGGTGAGGG TGAGGGGAGAGGGAGGGCGAGGGGAGAGGGAGGGCGAGGGGAGAGGGAGG GTGAGGGAGAGAGAGGGTGAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGG T	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133668443	T T	TACCCTCC others(420): Show TACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCACCCTCTCTCTCCCTC ACCCTCCCTCTCCCCTCGCCCTCCCTCTCCCCTCGCCCTCCCTCTCCCCT CACCCTCACCCTCCCTCTCCCTCACCCTCACCCTCCCTCTCCCTCACCCT CCCTCTCCCCTCACCCTCTCTCTCCCTCACCCTCCTCTCCCCTCGCCCTC CCTCTCCCCTCGCCCTCCCTCTCCCCTCACCCTCACCCTCCCTCTCCCTC ACCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCCTCGCCCTCCCTC TCCCCTCACCCTCATCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCACCC TCCCTCTCCCTCACCCTCCCTCTCCCCTCATCCTCCCTCTCCCTCACCCT CCCTCTCCCCTTACCCTCCCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0130 a0002c0005t0003g0130	1	262	0.0038	427	c.249 others(446): Show c.2496-1574_2496-1573insGAGGGAGGGGGAGGGTAAGGGGAGAG GGAGGGTGAGGGAGAGGGAGGATGAGGGGAGAGGGAGGGTGAGGGAGAGG GAGGGTGAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGATGAGGGTGAGGG GAGAGGGAGGGCGAGGGGAGAGGGAGGGTGAGGGGAGAGGGAGGGTGAGG GTGAGGGAGAGGGAGGGTGAGGGTGAGGGGAGAGGGAGGGCGAGGGGAGA GGGAGGGCGAGGGGAGAGGAGGGTGAGGGAGAGAGAGGGTGAGGGGAGAG GGAGGGTGAGGGAGAGGGAGGGTGAGGGTGAGGGAGAGGGAGGGTGAGGG TGAGGGGAGAGGGAGGGCGAGGGGAGAGGGAGGGCGAGGGGAGAGGGAGG GTGAGGGAGAGAGAGGGTGAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGG T	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SART1_chr11_65956734_65985137	65971057	G G	GGAGCTGA others(420): Show GGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGCGGGTGGT GGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGG GGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGC TGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGG TGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCT GAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGG ATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGGTGCTGAGG AGGGGGGTGGTGGGATTCAGGAGCTGAGGAGGGGGATGGTGGGATTCATG AGCTGAGGAGGGGGGTGGTGGGATTCAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03486.hp1 HG01109.hp1 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0162 a0001c0003t0002g0164 a0001c0003t0002g0162 a0001c0003t0002g0164	2	384	0.0052	427	c.157 others(446): Show c.1572+3277_1572+3278insCGGGTGGTGGGATTCATGAGCTGAGG AGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATG AGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGG TGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCT GAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGG ATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGG AGGGGGATGGTGGGATTCATGAGGTGCTGAGGAGGGGGGTGGTGGGATTC AGGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGGTGG TGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAG G	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGGGGTT others(420): Show GGGGGGTTGGGTGAGGGGGGTGGGGGTTGGGTGAGGGGGGTGGGGTCGGG GGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGG GGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTG AGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGTTGGGTGAGGGGGGT GGGGTCGGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAG GGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGG GGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTG TTGGGTGAGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTG AGGGGGGTGGGGTGGGGGGGTTGAGTGA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0016 a0016	a0016c0021 a0016c0021	a0016c0021t0008 a0016c0021t0008	a0016c0021t0008g0271 a0016c0021t0008g0271	1	290	0.0035	427	c.464 others(440): Show c.464+91_464+92insTGAGGGGGGTGGGGGTTGGGTGAGGGGGGTGG GGTCGGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGG GGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGG TTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGTTGGGTGA GGGGGGTGGGGTCGGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTT GAGTGAGGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGG GTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGG TGGGGTGTTGGGTGAGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGGG TTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGTTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCUBE1_chr22_43192280_43348372	43339807	C C	CACGCTCC others(420): Show CACGCTCCTCATTCTATCCCCCCACAAGCATCGCTCCAACCCTCCCCTAC TCTCCTCACTCTATCCCCCCACAAGCATCACTCCAACCCTCCCCCCACTC TCCTCATTCTATCCCCCCACAAGCATCACTCCAACCCTCCCCCCACTCTC CTCATTCTATCCCCCCACAAGCATCACTCCAACCCTCCCCTACTCTCCTC ATTCTACCCCCCCCAAGCATAGCTCCAACCCTCCCCTACTCTCCTCATTC TACCCCCCCCAAGCATAGCTCCAACCCTCCCCCAACTCTCCTCATTCTAC GCCCCCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTACC CCCCCCACAAGCACTGCTCCAACCCTCCCCCACTCTCCTCATTCTATCCC CCCACAAGCATTGCTCCAACCCTCCCCT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0001 a0001c0021t0001	a0001c0021t0001g0254 a0001c0021t0001g0254	1	280	0.0036	427	c.89- others(440): Show c.89-573_89-572insAGGGGAGGGTTGGAGCAATGCTTGTGGGGGGA TAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAGTGCTTGTGGGGGGGGTA GAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGCGTAG AATGAGGAGAGTTGGGGGAGGGTTGGAGCTATGCTTGGGGGGGGTAGAAT GAGGAGAGTAGGGGAGGGTTGGAGCTATGCTTGGGGGGGGTAGAATGAGG AGAGTAGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGAATGAGGAGA GTGGGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGAATGAGGAGAGT GGGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGAGTGAGGAGAGTAG GGGAGGGTTGGAGCGATGCTTGTGGGGGGATAGAATGAGGAGCGT	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SIGIRR_chr11_400716_419999	401808	G G	GGCCCCGC others(420): Show GGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCC CCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCG CTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCA CACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCC CGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGGC CCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCC GCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTC ACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCAGCCCCGCTCACA CCCGCCCCGCTCACCCCCGGCCCCGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	242	0.0041	427	c.40 others(438): Show c.4087_*4088insGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAG CGGGGCTGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGG GGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCC GGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGG TGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTG AGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCG GGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGC CGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGG GGGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3907		chr11	TogoVar
SLC25A12_chr2_171778405_171899244	171866626	C C	CGGGCGGG others(420): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGAAGGGGCGGCTGGCCGG GGGGGGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGTTGGGGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTCGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCC GGCCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0191 a0001c0001t0002g0191	1	314	0.0032	427	c.209 others(444): Show c.209+2054_209+2055insAGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGGCC GGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCGAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCGGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCCCCAACGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCCCCCC CCGGCCAGCCGCCCCTTCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC	SLC25A12	ENSG00000115840.14	transcript	ENST00000422440.7	protein_coding	3/17			chr2	TogoVar
SLC25A12_chr2_171778405_171899244	171866626	C C	CGGGCGGG others(420): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGAAGGGGCGGCTGGCCGG GGGGGGGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGTGGGGGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTCGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCC GGCCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02615.hp2 HG03098.hp1 others(1): Show HG02258.hp2 HG02615.hp2 HG03098.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0093 a0001c0001t0002g0217 a0001c0001t0006g0215 others(1): Show a0001c0001t0002g0093 a0001c0001t0002g0217 a0001c0001t0006g0215 a0001c0001t0006g0216	4	314	0.0127	427	c.209 others(444): Show c.209+2054_209+2055insAGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGGCC GGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCGAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCGGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCCCCCACGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCCCCCCC CCGGCCAGCCGCCCCTTCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC	SLC25A12	ENSG00000115840.14	transcript	ENST00000422440.7	protein_coding	3/17			chr2	TogoVar
SLC25A12_chr2_171778405_171899244	171866626	C C	CGGGCGGG others(420): Show CGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGAAGGGGCGGCTGGCCG GGGGGGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGTGGGGGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTCGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCC GGCCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	314	0.0032	427	c.209 others(444): Show c.209+2054_209+2055insAGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGGCC GGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCGAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCGGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCCCCCACGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCCCCCC CGGCCAGCCGCCCCTTCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCC	SLC25A12	ENSG00000115840.14	transcript	ENST00000422440.7	protein_coding	3/17			chr2	TogoVar
SLC25A12_chr2_171778405_171899244	171866626	C C	CGGGCGGG others(420): Show CGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGAAGGGGCGGCTGGCCG GGGGGGGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGTTGGGGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTCGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCC GGCCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCT	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0151 a0001c0001t0002g0151	1	314	0.0032	427	c.209 others(444): Show c.209+2054_209+2055insAGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGGCC GGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCGAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCGGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCCCCAACGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCCCCCCC CGGCCAGCCGCCCCTTCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCC	SLC25A12	ENSG00000115840.14	transcript	ENST00000422440.7	protein_coding	3/17			chr2	TogoVar

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