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
RNF139_chr8_124469880_124493618	124483113	A A	AATATATA others(273): Show AATATATATATATATATATTTTTATATAAATTTTATATATTTTATATAAA TATATATATAAAATAAATATATATATTTAAAGATATATATTAAATTATAT ATATTAAAATATGTATATTAATATATATTTAAATTATATAATTTAAATAT ACATATTTAAAAATATATATATTTAAATATATATATTTTTAATATATATA TTTTTAAATATATATATATTTATATATATATTTTTATATATATATATTTA TATATATATTTTTAAATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0178 a0001c0002t0002g0178	1	408	0.0025	280	c.182 others(297): Show c.182-2708_182-2707insATATATATTTTTATATAAATTTTATATA TTTTATATAAATATATATATAAAATAAATATATATATTTAAAGATATATA TTAAATTATATATATTAAAATATGTATATTAATATATATTTAAATTATAT AATTTAAATATACATATTTAAAAATATATATATTTAAATATATATATTTT TAATATATATATTTTTAAATATATATATATTTATATATATATTTTTATAT ATATATATTTATATATATATTTTTAAATATATATATATATTTATATATAT AT	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
RPH3AL_chr17_207389_357807	272984	C C	CGACATCA others(273): Show CGACATCAGGAAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAG CGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGA CCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGG AAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGCGAC GTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAG GGTGACTTCAGGGAGAGACCCCAGCGAGGGT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0097 a0001c0001t0007g0097	1	133	0.0075	280	c.438 others(297): Show c.438+8783_438+8784insACCCTCGCTGGGGTCTCTCCCTGAAGTC ACCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCT GACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCT CTTCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTG GGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCACCC TCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTTCCTGATG TC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273050	G G	GAGAGACC others(273): Show GAGAGACCCCAGCGCGGGTGACTTCAGGGTGAGACCCCGGCGAGGGCGAC GTCAGGGAGAGACCCCAGCAAGGGCTACGTCAGGGAGAGACCCCAGCGAG GGTGACGTCAGGGAGAGACCCCAGCGAGAGTGACTTCAGGGTGAGACCCC GGCGAGGGTGACTTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGA GACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCAAGGGCTACGTCA GGGTGAGACCCCAGCGAGGGCGACATCAGGA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	133	0.0075	280	c.438 others(297): Show c.438+8717_438+8718insTCCTGATGTCGCCCTCGCTGGGGTCTCA CCCTGACGTAGCCCTTGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGG GTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGAAGTCACCCTC GCCGGGGTCTCACCCTGAAGTCACTCTCGCTGGGGTCTCTCCCTGACGTC ACCCTCGCTGGGGTCTCTCCCTGACGTAGCCCTTGCTGGGGTCTCTCCCT GACGTCGCCCTCGCCGGGGTCTCACCCTGAAGTCACCCGCGCTGGGGTCT CT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273135	A A	AGAGACCC others(273): Show AGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGTGATG TCAGGGAGAGACCCCAGCGAGGGTGATGTCAGGGAGAGACCCCAGCGAGG GCGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCA GCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAG ACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAG GAAGAGACCCCAGCGAGGGCGACGTCAGGGT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0090 a0001c0002t0003g0090	1	133	0.0075	280	c.438 others(297): Show c.438+8632_438+8633insACCCTGACGTCGCCCTCGCTGGGGTCTC TTCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGG GGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCGCCCT CGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGT CGCCCTCGCTGGGGTCTCTCCCTGACATCACCCTCGCTGGGGTCTCTCCC TGACATCACCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTC TC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273620	A A	AGCGAGGG others(273): Show AGCGAGGGTGACGTCAGGGAGAGACCCCAGCAAGGGTGATGTCAGGGAGA GACCCCAGCGCGGGTGACGTCAGGGAGAGACCCCAGCAAGGGTGACTTCA GGGTGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCAAGGGTG ACTTCAGGGTGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCG AGGGCGACGTCAGGGAGAGACCCCAGCAAGGGTGACTTCAGGGTGAGACC CCAGCGAGGGCGACGTCGGGGAGAGACCCCT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0028 a0001c0003t0028	a0001c0003t0028g0088 a0001c0003t0028g0088	1	133	0.0075	280	c.438 others(297): Show c.438+8147_438+8148insAGGGGTCTCTCCCCGACGTCGCCCTCGC TGGGGTCTCACCCTGAAGTCACCCTTGCTGGGGTCTCTCCCTGACGTCGC CCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCACCCTGA AGTCACCCTTGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCA CCCTGAAGTCACCCTTGCTGGGGTCTCTCCCTGACGTCACCCGCGCTGGG GTCTCTCCCTGACATCACCCTTGCTGGGGTCTCTCCCTGACGTCACCCTC GC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RSRC1_chr3_158105089_158550730	158228874	A A	AACACACA others(273): Show AACACACATACGTGTATATATGTATATAAACACACATACGTGTATATATG TATATAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTA TATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACATACG TGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACA CATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATA AACACACATACGTGTATATGTGTATATAAAC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG01516.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0271 a0001c0001t0002g0272	2	276	0.0073	280	c.494 others(299): Show c.494+25634_494+25635insCATACGTGTATATATGTATATAAACA CACATACGTGTATATATGTATATAAACACACATACGTGTATATGTGTATA TAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTATATG TGTATATAAACACATACGTGTATATGTGTATATAAACACACATACGTGTA TATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACACATA CGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACA CACA	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158228874	A A	AACACACA others(273): Show AACACACATACGTGTATATATGTATATAAACACACATACGTGTATATATG TATATAAACACACATACGTGTATATGTTTATATAAACACACATACGTGTA TATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACATACG TGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACA CATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATA AACACACATACGTGTATATGTGTATATAAAC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02074.hp2 HG02683.hp2 others(6): Show HG00642.hp2 HG02074.hp2 HG02683.hp2 HG03654.hp1 HG04199.hp1 NA18747.hp2 NA18948.hp2 NA18970.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0233 a0001c0001t0002g0240 a0001c0001t0002g0242 others(6): Show a0001c0001t0002g0233 a0001c0001t0002g0240 a0001c0001t0002g0242 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0273 a0001c0001t0006g0232 a0001c0001t0006g0248	9	276	0.0326	280	c.494 others(299): Show c.494+25634_494+25635insCATACGTGTATATATGTATATAAACA CACATACGTGTATATATGTATATAAACACACATACGTGTATATGTTTATA TAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTATATG TGTATATAAACACATACGTGTATATGTGTATATAAACACACATACGTGTA TATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACACATA CGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACA CACA	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158228874	A A	AACACACA others(273): Show AACACACATACGTGTATATATGTATATAAACACACATACGTGTATATGTG TATATAAACACACATACGTGTATATGTGTATATAAACACATACGTGTATA TGTGTATATAAACACACATACGTGTATATGTGTATATAAACACACATACG TGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACA CATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATA AACACACATACGTGTATATGTGTATATAAAC	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	276	0.0036	280	c.494 others(299): Show c.494+25634_494+25635insCATACGTGTATATATGTATATAAACA CACATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATA TAAACACATACGTGTATATGTGTATATAAACACACATACGTGTATATGTG TATATAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTA TATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACACATA CGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACA CACA	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158228874	A A	AACACACA others(273): Show AACACACATACGTGTATATATGTATATAAACACACATACGTGTATATGTT TATATAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTA TATGTGTATATAAACACATACGTGTATATGTGTATATAAACACACATACG TGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACA CATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATA AACACACATACGTGTATATGTGTATATAAAC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02132.hp2 HG02723.hp2 HG01255.hp2 HG02132.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0091 a0001c0001t0006g0026 a0001c0001t0006g0029 a0001c0001t0001g0091 a0001c0001t0006g0026 a0001c0001t0006g0029	3	276	0.0109	280	c.494 others(299): Show c.494+25634_494+25635insCATACGTGTATATATGTATATAAACA CACATACGTGTATATGTTTATATAAACACACATACGTGTATATGTGTATA TAAACACACATACGTGTATATGTGTATATAAACACATACGTGTATATGTG TATATAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTA TATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACACATA CGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACA CACA	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RUNDC3B_chr7_87623398_87837296	87626222	A A	ATTGTCAT others(273): Show ATTGTCATATATATGTGTCATATATATGTCATATATATGTGTCATATATA TGTCATATATATGTGTCATATATATGTCATATATATGTGTCATATATATT GTCATATATATGTGTCATATATATTGTCATATATATGTGTCATATATGTG TCATATATATGTGTCATATATGTGTCATATATATCTGTCATATATGTGTC ATATATATCTGTCATATATGTGTCATATATATCTGTCATATATGTGTCAT ATATATGTGTCATATATGTGTCATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0064 a0001c0001t0003g0064	1	202	0.0050	280	c.-26 others(291): Show c.-2602_-2601insTTGTCATATATATGTGTCATATATATGTCATATA TATGTGTCATATATATGTCATATATATGTGTCATATATATGTCATATATA TGTGTCATATATATTGTCATATATATGTGTCATATATATTGTCATATATA TGTGTCATATATGTGTCATATATATGTGTCATATATGTGTCATATATATC TGTCATATATGTGTCATATATATCTGTCATATATGTGTCATATATATCTG TCATATATGTGTCATATATATGTGTCATATATGTGTCATATATATG	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2175		chr7	TogoVar
SAMD11_chr1_918923_949574	934288	A A	AGGGGAGG others(273): Show AGGGGAGGCGGCTCCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAG GTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCG TTACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCG GCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGG GGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGG GCGGGGGAGGCGGCTGCGTTACAGGTGGGCG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0150 a0001c0022t0001g0150	1	434	0.0023	280	c.843 others(297): Show c.843-1472_843-1471insCCGTTACAGGTGGGCAGGGGAGGCGGCT GCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCGGGGGGG GCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCG GGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGG TGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGT TACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGG CT	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAT1_chrX_23778173_23791210	23780122	C C	CACACATA others(273): Show CACACATATATATGTGTATATATATACGTATATATACACACATATATATG TGTATATATATACGTATATATATACACATATATATGTGTGTATATATACG TATATATATACACATATATATGTGTGTATATATACGTATATATACACACA TATATATGTGTATATATATACGTATATATACACATATATATGTGTATATA TATACGTATATATACACACATATATATGTGTATATATACGTATATATATA CACATATATATGTGTATATATACGTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02559.hp2 HG02630.hp2 others(4): Show HG02258.hp1 HG02559.hp2 HG02630.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007	7	330	0.0212	280	c.-32 others(291): Show c.-3230_-3229insACACATATATATGTGTATATATATACGTATATAT ACACACATATATATGTGTATATATATACGTATATATATACACATATATAT GTGTGTATATATACGTATATATATACACATATATATGTGTGTATATATAC GTATATATACACACATATATATGTGTATATATATACGTATATATACACAT ATATATGTGTATATATATACGTATATATACACACATATATATGTGTATAT ATACGTATATATATACACATATATATGTGTATATATACGTATATAT	SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding		3050		chrX	TogoVar
SAT1_chrX_23778173_23791210	23780122	C C	CACACATA others(273): Show CACACATATATATGTGTATATATATACGTATATATACACACATATATATG TGTATATATATACGTATATATATACACATATATATGTGTGTATATATACG TATATATATACACATATATATGTGTGTATATATACGTATATATACACACA TATATATGTGTGTATATATACGTATATATACACATATATATGTGTATATA TATACGTATATATACACACATATATATGTGTATATATACGTATATATATA CACATATATATGTGTATATATACGTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	330	0.0030	280	c.-32 others(291): Show c.-3230_-3229insACACATATATATGTGTATATATATACGTATATAT ACACACATATATATGTGTATATATATACGTATATATATACACATATATAT GTGTGTATATATACGTATATATATACACATATATATGTGTGTATATATAC GTATATATACACACATATATATGTGTGTATATATACGTATATATACACAT ATATATGTGTATATATATACGTATATATACACACATATATATGTGTATAT ATACGTATATATATACACATATATATGTGTATATATACGTATATAT	SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding		3050		chrX	TogoVar
SBF2_chr11_9773668_10299219	10249692	T T	TTTGGAAT others(273): Show TTTGGAATGCTATGGGGGAGTCCATAGCATTGGAATGCTATGGGGGAGTC CATAGCATTGGAATGCTATGGGGGAGTCCATAGCATTGGAATGCTATGGG GGAGTCCATAGCATTGGAATGCTATGGGGGAGTCCATAGCATTGGAATGC TATGGGGGAGTCCATAGCATTGGAATGCTATGGGGGAGTCCATAGCATTG GAATGCTATGGGGGAGTCCATAGCATTGGAATGCTATGGGGGAGTCCATA GCATTGGAATGCTATGGGGGAGTCCATAGCA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01515.hp2 HG02486.hp2 others(3): Show HG01109.hp2 HG01515.hp2 HG02486.hp2 HG04115.hp1 NA18906.hp1 NA20752.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0012 a0004c0006 a0001c0001 a0001c0012 a0004c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0012t0005 a0004c0006t0004	a0001c0001t0002g0221 a0001c0001t0003g0175 a0001c0001t0004g0214 others(3): Show a0001c0001t0002g0221 a0001c0001t0003g0175 a0001c0001t0004g0214 a0001c0001t0004g0219 a0001c0012t0005g0194 a0004c0006t0004g0217	6	224	0.0268	280	c.55+ others(297): Show c.55+44322_55+44323insTGCTATGGACTCCCCCATAGCATTCCAA TGCTATGGACTCCCCCATAGCATTCCAATGCTATGGACTCCCCCATAGCA TTCCAATGCTATGGACTCCCCCATAGCATTCCAATGCTATGGACTCCCCC ATAGCATTCCAATGCTATGGACTCCCCCATAGCATTCCAATGCTATGGAC TCCCCCATAGCATTCCAATGCTATGGACTCCCCCATAGCATTCCAATGCT ATGGACTCCCCCATAGCATTCCAATGCTATGGACTCCCCCATAGCATTCC AA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SCAPER_chr15_76342904_76910340	76533664	T T	TAAAATTA others(273): Show TAAAATTATTACACAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGG TCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACT AAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCA GCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp1 HG02451.hp2 others(7): Show HG02109.hp2 HG02145.hp1 HG02451.hp2 HG02630.hp2 HG02723.hp1 HG02896.hp1 HG02976.hp1 HG03098.hp2 HG03130.hp1 NA19043.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0001c0004 a0011c0019 a0001c0001 a0001c0004 a0011c0019	a0001c0001t0003 a0001c0004t0001 a0011c0019t0001 a0001c0001t0003 a0001c0004t0001 a0011c0019t0001	a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0187 others(7): Show a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0187 a0001c0004t0001g0128 a0001c0004t0001g0129 a0001c0004t0001g0130 a0001c0004t0001g0131 a0001c0004t0001g0132 a0001c0004t0001g0161 a0011c0019t0001g0127	10	312	0.0321	280	c.283 others(301): Show c.2839-28691_2839-28690insTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGTGTAAT AATTTT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	23/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76533664	T T	TAAAATTA others(273): Show TAAAATTATTACACAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGG TCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACT AAAAAATACAAAAAATTAGCCGGGCGTAGTGGTGGGCGCCTGTAGTCCCA GCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01123.hp1 HG01167.hp2 others(13): Show HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG02258.hp1 HG02717.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02976.hp2 HG03139.hp1 HG03209.hp1 HG03471.hp1 HG03516.hp2 NA18522.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0017 a0001c0001t0004g0111 a0001c0001t0004g0122 others(13): Show a0001c0001t0004g0017 a0001c0001t0004g0111 a0001c0001t0004g0122 a0001c0001t0004g0126 a0001c0001t0004g0133 a0001c0001t0004g0135 a0001c0001t0004g0142 a0001c0001t0004g0147 a0001c0001t0004g0148 a0001c0001t0004g0149 a0001c0001t0004g0151 a0001c0001t0004g0152 a0001c0001t0004g0154 a0001c0001t0004g0155 a0001c0001t0004g0158 a0001c0001t0004g0159	16	312	0.0513	280	c.283 others(301): Show c.2839-28691_2839-28690insTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCACCACTACGCCCGGCTAATTTTTTGT ATTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGTGTAAT AATTTT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	23/31			chr15	TogoVar
SCLY_chr2_238056001_238104413	238098579	G G	GAACGCCC others(273): Show GAACGCCCACATGGGAACGCCCACATAGGACCGCCCACATAGGACCGCCC ACATGGGAACGCCCACATAGAACCGTCCACATGGGACCGCCCACATGGGA ACGCCCACATGGGACCGCCCACATGGGAACGCCCACATGGGACCGCCCAC ATGGGACCGCCCACATGGGACCGCCCACATGGGAACGCCCACATAGAACC GCCCACATAGGACCGCCCACATGGGAACGCCCACATAGAACCGCCCACAT AGGACCGCCCACATGGGAACGCCCACATAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0153 a0001c0003t0153	a0001c0003t0153g0174 a0001c0003t0153g0174	1	392	0.0026	280	c.22 others(289): Show c.225_*226insACGCCCACATGGGAACGCCCACATAGGACCGCCCAC ATAGGACCGCCCACATGGGAACGCCCACATAGAACCGTCCACATGGGACC GCCCACATGGGAACGCCCACATGGGACCGCCCACATGGGAACGCCCACAT GGGACCGCCCACATGGGACCGCCCACATGGGACCGCCCACATGGGAACGC CCACATAGAACCGCCCACATAGGACCGCCCACATGGGAACGCCCACATAG AACCGCCCACATAGGACCGCCCACATGGGAACGCCCACATAGAA	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	12/12	226	INFO_REALIGN_3_PRIME	chr2	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGGGGTT others(273): Show GGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGG GGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGGGGTTG GGTGAGGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGG TGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGT GGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGG GTGAGGGGGGTGGGGTGGGGGGGTTGAGTGA	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0060 a0002c0003t0001g0060	1	290	0.0035	280	c.464 others(293): Show c.464+91_464+92insTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGT GGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGG GGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGG GGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGA GGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGG GGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGTTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288943	C C	CCGTGTCT others(273): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTC CCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0140	1	290	0.0035	280	c.166 others(297): Show c.1662+907_1662+908insGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCG TCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGT GTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCG TC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289908	T T	TCCCGTGT others(273): Show TCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCG TCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC CCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0018 a0018	a0018c0035 a0018c0035	a0018c0035t0002 a0018c0035t0002	a0018c0035t0002g0028 a0018c0035t0002g0028	1	290	0.0035	280	c.166 others(297): Show c.1663-330_1663-329insCCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGT GTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTC CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCT GC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCTR_chr2_119434843_119529483	119444874	T T	TATATACA others(273): Show TATATACACATATATACGTACGAATATATATACACATATATACGTACGAA TATATATACACATATATACGTACGAATATATATACACATATATACGTACG AATATATATACACATATATACGTACGAATATATATACACATATATACGTA CGAATATATATACACATATATACGTACGAATATATATACACATATATTCG TACGAATATATATACACATATATTCGTACGAATATATATACACATATATT CGTACGAATATATATACATATATTCGTACGA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0118 a0001c0002t0001g0118	1	290	0.0035	280	c.114 others(299): Show c.1140+1884_1140+1885insTCGTACGAATATATGTATATATATTC GTACGAATATATGTGTATATATATTCGTACGAATATATGTGTATATATAT TCGTACGAATATATGTGTATATATATTCGTACGTATATATGTGTATATAT ATTCGTACGTATATATGTGTATATATATTCGTACGTATATATGTGTATAT ATATTCGTACGTATATATGTGTATATATATTCGTACGTATATATGTGTAT ATATATTCGTACGTATATATGTGTATATATATTCGTACGTATATATGTGT ATAT	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12			chr2	TogoVar
SEC16B_chr1_177923788_177975058	177955137	T T	TAAAAAAT others(273): Show TAAAAAATATTCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0027 a0027	a0027c0038 a0027c0038	a0027c0038t0001 a0027c0038t0001	a0027c0038t0001g0255 a0027c0038t0001g0255	1	408	0.0025	280	c.136 others(297): Show c.1366-762_1366-761insTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGAATATTTT TT	SEC16B	ENSG00000120341.19	transcript	ENST00000308284.11	protein_coding	10/25			chr1	TogoVar
SEMA3A_chr7_83950777_84199789	84086471	G G	GTATTATT others(273): Show GTATTATTATATTATATTTACATATAATATATTATTATATTATATTTACA TATAATATATTATTATATTATATTTACATATAATATATTATTATATTATA TTTACATATAATATATTATTATATTATATTTACATATAATATATTATTAT ATTATATTTACATATAATATATTATTATATTATATTTACATATAATATAT TATTATATTATATTTACATATAATATATTATTATATTATATTTACATATA ATATATTATTATATTATATTTACATATAATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0071 a0001c0003t0008g0071	1	276	0.0036	280	c.453 others(299): Show c.453+23998_453+23999insTATTATATGTAAATATAATATAATAA TATATTATATGTAAATATAATATAATAATATATTATATGTAAATATAATA TAATAATATATTATATGTAAATATAATATAATAATATATTATATGTAAAT ATAATATAATAATATATTATATGTAAATATAATATAATAATATATTATAT GTAAATATAATATAATAATATATTATATGTAAATATAATATAATAATATA TTATATGTAAATATAATATAATAATATATTATATGTAAATATAATATAAT AATA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SFTPB_chr2_85652314_85673199	85666219	G G	GTGTGTGT others(273): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTGGCTGG GGTACTGTGTGGGTATGTGTCTGGATGGAGTGCTGTGTGTGTGTGTGTTT CCAGCTGGCTGGGGTACTGTGTGTGTGTATGTGTCTGGATAGGGTGCTGT GTGTGTGTGTGTCCGGCCAGCTGGGGTACTGTGTGTGTGTGTGTCCGGCC AGCTGGGGTGTTGTGTGTGTGTGTGTGTGTGTGTCCGGCTGGCTGGGGTG CTGTGTGTTTGTGTCTGGCCGGCTTGGGTGC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0087 a0001c0001t0003g0087	1	426	0.0024	280	c.393 others(295): Show c.393+397_393+398insGCACCCAAGCCGGCCAGACACAAACACACA GCACCCCAGCCAGCCGGACACACACACACACACACACACAACACCCCAGC TGGCCGGACACACACACACACAGTACCCCAGCTGGCCGGACACACACACA CACAGCACCCTATCCAGACACATACACACACACAGTACCCCAGCCAGCTG GAAACACACACACACACAGCACTCCATCCAGACACATACCCACACAGTAC CCCAGCCAGCCAGACACACACACACACACACACACACACACACACACACA	SFTPB	ENSG00000168878.19	transcript	ENST00000519937.7	protein_coding	4/10			chr2	TogoVar
SH3D19_chr4_151115281_151330605	151256047	A A	AGAGGGAG others(273): Show AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0150 a0001c0001t0002g0150	1	282	0.0036	280	c.113 others(299): Show c.113-29962_113-29961insCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTC	SH3D19	ENSG00000109686.20	transcript	ENST00000604030.7	protein_coding	1/19			chr4	TogoVar
SHISAL1_chr22_44238665_44317951	44302613	T T	TAGCAGGG others(273): Show TAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGC AAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTG GGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGC GGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGG CAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGC AAAGGCCCTGGGGTGGGTGCGGTGAGGAGGC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01496.hp2 HG02559.hp1 others(8): Show HG01255.hp2 HG01496.hp2 HG02559.hp1 HG02717.hp1 HG02809.hp2 HG02922.hp2 HG03834.hp1 NA18973.hp2 NA19074.hp2 NA19090.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0015 a0001c0001t0016 a0001c0001t0066 others(7): Show a0001c0001t0015 a0001c0001t0016 a0001c0001t0066 a0001c0001t0084 a0001c0002t0001 a0001c0002t0003 a0001c0002t0016 a0001c0002t0023 a0001c0002t0074 a0001c0003t0024	a0001c0001t0015g0219 a0001c0001t0016g0032 a0001c0001t0066g0231 others(8): Show a0001c0001t0015g0219 a0001c0001t0016g0032 a0001c0001t0066g0231 a0001c0001t0084g0060 a0001c0002t0001g0103 a0001c0002t0003g0240 a0001c0002t0016g0050 a0001c0002t0016g0051 a0001c0002t0023g0016 a0001c0002t0074g0137 a0001c0003t0024g0030	11	380	0.0290	280	c.-32 others(297): Show c.-32-1916_-32-1637dupGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTG CTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTC ACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCA CCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTG CT	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	1/4			chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44302857	A A	AGGGGCAA others(273): Show AGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAG GCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGT GGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTG AGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGC AGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAG GCCCTGGGGTGGGTGCGGTGAGGAGGCAGCG	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0286 a0001c0002t0005g0286	1	380	0.0026	280	c.-32 others(297): Show c.-32-1881_-32-1880insCGCTGCCTCCTCACCGCACCCACCCCAG GGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCC CCTGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCT CCTCACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCA CCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAG GGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCC CC	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	1/4			chr22	TogoVar
SHROOM2_chrX_9781429_9954443	9791969	G G	GAGAATAG others(273): Show GAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0002 a0002c0013t0002	a0002c0013t0002g0191 a0002c0013t0002g0191	1	256	0.0039	280	c.165 others(297): Show c.165+5450_165+5451insGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SHROOM2_chrX_9781429_9954443	9791969	G G	GAGAATAG others(273): Show GAGAATAGAATAGGATAGGATAGGATAGGATAGGATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAAT	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0012 a0012	a0012c0021 a0012c0021	a0012c0021t0001 a0012c0021t0001	a0012c0021t0001g0075 a0012c0021t0001g0075	1	256	0.0039	280	c.165 others(297): Show c.165+5271_165+5272insGATAGGATAGGATAGGATAGGATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AG	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SIGIRR_chr11_400716_419999	401214	C C	CCCCGCTC others(273): Show CCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCC GCTCACCCCCGGCCCCGCTCACACCCCGCCCCGCTCACACCCGCCCCGCT CACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACA CCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCG GCCCCGCTCACCCCCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGC CCCGCTCACACCCGGCCCCGCTCACACCCGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	242	0.0041	280	c.46 others(291): Show c.4681_*4682insTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCG GGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGGGGTGAGCGGGGCCGG GGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGT GAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGGTGAGC GGGGCGGGTGTGAGCGGGGCGGGGTGTGAGCGGGGCCGGGGGTGAGCGGG GCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGGTGAGCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4501		chr11	TogoVar
SIGIRR_chr11_400716_419999	401214	C C	CCCCGCTC others(273): Show CCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCC GCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTC ACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACAC CCGCCCCGCTCACCCCCGGCCCCCGCTCACACCCGCCCCGCTCACCCCCG GCCCCGCTCACCCCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCCGC CCCGCTCACACCCGGCCCCGCTCACACCCGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0064 a0005c0009t0001g0064	1	242	0.0041	280	c.46 others(291): Show c.4681_*4682insTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCG GGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCCGG GGGTGAGCGGGGCGGGTGTGAGCGGGGGCCGGGGGTGAGCGGGGCGGGTG TGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGGTGAG CGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGG GCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGGTGAGCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4501		chr11	TogoVar
SKI_chr1_2223319_2315213	2282114	G G	GGATGCCC others(273): Show GGATGCCCGAGAAGACAGGCGGTGGTGGAGATCTTCAGAGAGCGGACGCC CGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGATGCCCGAGAGG ACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAGGACAGGCG GTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACA CGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGA AGACAGGTGGTGGCGGAGATCTTCAGAGAGA	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	330	0.0030	280	c.970 others(299): Show c.970-20864_970-20863insGATGCCCGAGAAGACAGGCGGTGGTG GAGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCT TCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGA GAGGACGCCTGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGG CGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGAT CTTCAGAGAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAGA GAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6			chr1	TogoVar
SLC22A12_chr11_64586220_64607344	64596261	T T	TGGAATGG others(273): Show TGGAATGGATGGATGGATGGGATGGATGGATGGATGGATGGATGGAATAG ATGGAATGGATAGATGGATGGATGGATGGTTTGATGGTTGAATGGATGGA TGGATGGAATGGATGGATGAATGGAATTGATGGATGGATGGGATGGATGG ATGGATTGATGGATAGTTGGAACAGATGGAATGGATGGATGGATGGATGG TCGAATGGATAGTTGAATGGATGGATGCATGGATGGATGGATGGATGGAA TGGATGGATGGATGGAATGGATGGATGGATG	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18947.hp1 NA18980.hp2 others(1): Show NA18747.hp1 NA18947.hp1 NA18980.hp2 NA19009.hp1	a0001 a0001	a0001c0004 a0001c0016 a0001c0004 a0001c0016	a0001c0004t0001 a0001c0016t0001 a0001c0004t0001 a0001c0016t0001	a0001c0004t0001g0183 a0001c0004t0001g0184 a0001c0004t0001g0185 others(1): Show a0001c0004t0001g0183 a0001c0004t0001g0184 a0001c0004t0001g0185 a0001c0016t0001g0182	4	390	0.0103	280	c.831 others(297): Show c.831-2252_831-2251insATGGATGGATGGATGGGATGGATGGATG GATGGATGGATGGAATAGATGGAATGGATAGATGGATGGATGGATGGTTT GATGGTTGAATGGATGGATGGATGGAATGGATGGATGAATGGAATTGATG GATGGATGGGATGGATGGATGGATTGATGGATAGTTGGAACAGATGGAAT GGATGGATGGATGGATGGTCGAATGGATAGTTGAATGGATGGATGCATGG ATGGATGGATGGATGGAATGGATGGATGGATGGAATGGATGGATGGATGG GA	SLC22A12	ENSG00000197891.12	transcript	ENST00000377574.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC45A4_chr8_141202174_141313288	141203276	A A	AGAGAGAG others(273): Show AGAGAGAGGGAGACCGTGGAGAGAGAGAGAGAGAGGGAGAGGGAGAGAGG GAGAGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGACCGTGGAGGAGAGA GAGAGAGAGAGAGAGAGAGATGACCCGTGGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGGGAGAGAGGGAGAGAGAGAGAGAGGGAGAGAGAGAC CGTGGAGAGAGGGAGAGGGAGACCGTGGAGAGAGAGAGAGAGGAGAGAGG GAGAGAGAGAGAGAGGAGAGAGGGAGAGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0010 a0010	a0010c0027 a0010c0027	a0010c0027t0001 a0010c0027t0001	a0010c0027t0001g0070 a0010c0027t0001g0070	1	188	0.0053	280	c.82 others(291): Show c.8295_*8296insCCTCTCTCCCTCTCTCCTCTCTCTCTCTCTCCCT CTCTCCTCTCTCTCTCTCTCCACGGTCTCCCTCTCCCTCTCTCCACGGTC TCTCTCTCCCTCTCTCTCTCTCTCCCTCTCTCCCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCCACGGGTCATCTCTCTCTCTCTCTCTCTCTCT CTCCTCCACGGTCTCTCTCTCTCTCTCTCTCTCTCTCTCCCTCTCTCCCT CTCTCCCTCTCCCTCTCTCTCTCTCTCTCCACGGTCTCCCTCTCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3897		chr8	TogoVar
SLC45A4_chr8_141202174_141313288	141203505	G G	GGAGAGAG others(273): Show GGAGAGAGGGAGAGAGGGAGAGAGAGAGAGGGAGAGGGAGAGAGGGAGAG AGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGAGAGAGAGAGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAG AGAGGGAGAGAGGGAGAGAGGGAGAGAGAGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAG AGAGGGAGAGAGGGAGAGAGGGAGAGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0008 a0004c0007t0008	a0004c0007t0008g0015 a0004c0007t0008g0015	1	188	0.0053	280	c.80 others(291): Show c.8066_*8067insTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTC CCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCTCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTC CCTCTCTCCCTCTCTCCCTCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCTCTCTCTCTCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTC TCCCTCTCTCCCTCTCCCTCTCTCTCTCTCCCTCTCTCCCTCTCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3668		chr8	TogoVar
SLC9A3_chr5_465456_529449	507665	T T	TCCCCACC others(273): Show TCCCCACCCCACAGACACCTGAATCCTCACCCCACAGACGCCCGAATCTC CACCCCACAGACGCCCGAATCCCCACCCCACAGACGCCCGAATCCCCACC CCACAGACGCCCGAATCCCCACCCCACAGACGCCCGAATCCCCACCCCAC AGACGCCCGAATCCCCACCCCACAGACGCCGAATCCCCACCCCACAGACG CCCGAATCCCCACCCCACAGACGCCCGAATCCCCACCCCACAGACGCCCG AATCCCCACCCCACAGACGCCCGAATCCCCA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0155 a0001c0001t0001g0156	2	218	0.0092	280	c.212 others(299): Show c.212-15595_212-15594insTGGGGATTCGGGCGTCTGTGGGGTGG GGATTCGGGCGTCTGTGGGGTGGGGATTCGGGCGTCTGTGGGGTGGGGAT TCGGGCGTCTGTGGGGTGGGGATTCGGCGTCTGTGGGGTGGGGATTCGGG CGTCTGTGGGGTGGGGATTCGGGCGTCTGTGGGGTGGGGATTCGGGCGTC TGTGGGGTGGGGATTCGGGCGTCTGTGGGGTGGGGATTCGGGCGTCTGTG GGGTGGAGATTCGGGCGTCTGTGGGGTGAGGATTCAGGTGTCTGTGGGGT GGGG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SMYD3_chr1_245744347_246512279	246325271	G G	GGGGGCGG others(273): Show GGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAG GAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGG GAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGA AGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGG GCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGT CGGGGGGCGGGAAGGAGGGAGAAGGAGTCGC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0022 a0001c0006t0001g0022	1	150	0.0067	280	c.531 others(297): Show c.531+1929_531+1930insGCGACTCCTTCTCCCTCCTTCCCGCCCC CCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCC CGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCT CCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTT CTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGA CTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCC CC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNTG2_chr2_945849_1372613	1143707	T T	TAAAATAC others(273): Show TAAAATACAAAAAAACACACTTTGGGAGGCCGAGGCGGGCGGATGACGAG GTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0001 a0005c0015t0001	a0005c0015t0001g0153 a0005c0015t0001g0153	1	190	0.0053	280	c.411 others(297): Show c.411+5914_411+5915insCACTTTGGGAGGCCGAGGCGGGCGGATG ACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAG TCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG CGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATACAAAAAAA CA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1222457	A A	AGCTGGAG others(273): Show AGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGCGGCGCAGTGATGGAGGG CGTCTCCCTGTCCTGCCTGCTGGTGGAGGTGCTGGATCGCTGTAGAGGAA AGCGGCGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGT GCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTG TCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAG TGATGGAGGGTGTCTCCCTGTCCTGCCTGCT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG01516.hp2 HG01517.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0176 a0005c0006t0001g0189 a0005c0006t0001g0176 a0005c0006t0001g0189	2	190	0.0105	280	c.719 others(299): Show c.719+13258_719+13259insCGGCGCAGTGATGGAGGGCGTCTCCC TGTCCTGCCTGCTGGTGGAGGTGCTGGATCGCTGTAGAGGAAAGCGGCGC AGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATC GCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCT GCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAG GGTGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGG AAAG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1222599	C C	CTGGAGGG others(273): Show CTGGAGGGGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCG TCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAG TGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGC TGGATCGCTGTAGAGGAAACTGGTGCAGTGATGGAGGGTGTCTCCCTGTC CTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTG ATGGAGGGTGTCTCCCTGTCCTGCCTGCTGG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0001 a0007c0016t0001	a0007c0016t0001g0005 a0007c0016t0001g0005	1	190	0.0053	280	c.719 others(299): Show c.719+13375_719+13376insGGCTGGATCGCTGTAGAGGAAAGTGG TGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGG ATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTG CCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAACTGGTGCAGTGATG GAGGGTGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAG AGGAAAGTGGTGCAGTGATGGAGGGTGTCTCCCTGTCCTGCCTGCTGGTG GAGG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1222613	T T	TCGCTGTA others(273): Show TCGCTGTAGAGGAAAGCGGCGCAGTGATGGAGGGCGTCTCCCTGTCCTGC CTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGG AGGGTGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGA GGAAAGTGGTGCAGTGATGGAGTGCGTCTCCCTGTCCTGCCTGCTGCTGG AGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTC CCTGTCCTGCCTGCTGCTGGAGGTGCTGGAC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0017 a0017	a0017c0036 a0017c0036	a0017c0036t0001 a0017c0036t0001	a0017c0036t0001g0070 a0017c0036t0001g0070	1	190	0.0053	280	c.719 others(299): Show c.719+13401_719+13402insCGCAGTGATGGAGGGCGTCTCCCTGT CCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGT GATGGAGGGTGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCT GTAGAGGAAAGTGGTGCAGTGATGGAGTGCGTCTCCCTGTCCTGCCTGCT GCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGC GTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGACCGCTGTAGAGGAAA GCGG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1222814	G G	GGTGCTGG others(273): Show GGTGCTGGACCGCTGTAGAGGAAAGTGGCGCAGTGATGGAGGGTGTCTCC CTGTCCTGCCTGCTGCTGGAAGTGCTGGACCGCTGTAGAGGAAAGTGGTG CAGTGATGGAGGGCGCCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGAT CGCTGTAGAGGAAACTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCC TGCTGCTGGAGGTGCTGGACCGCTGTAGAGGAAAGTGGCGCAGTGATGGA GGGTGTCTCCCTGTCCTGCCTGCTGCTGGAA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0131 a0002c0005t0001g0131	1	190	0.0053	280	c.719 others(299): Show c.719+13592_719+13593insCCGCTGTAGAGGAAAGTGGCGCAGTG ATGGAGGGTGTCTCCCTGTCCTGCCTGCTGCTGGAAGTGCTGGACCGCTG TAGAGGAAAGTGGTGCAGTGATGGAGGGCGCCTCCCTGTCCTGCCTGCTG CTGGAGGTGCTGGATCGCTGTAGAGGAAACTGGTGCAGTGATGGAGGGCG TCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGACCGCTGTAGAGGAAAG TGGCGCAGTGATGGAGGGTGTCTCCCTGTCCTGCCTGCTGCTGGAAGTGC TGGA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1222839	C C	CGGCGCAG others(273): Show CGGCGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGC TGGATCCCTGTAGAGGAAACTGGTGCAGTGATGGAGGGCGTCTCCCTGTC CTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGCGGCGCAGTG ATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTG TAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTG CTGGAAGTGCTGGATCGCTGTAGAGGAAAGT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0075 a0003c0007t0002g0075	1	190	0.0053	280	c.719 others(299): Show c.719+13611_719+13612insCGCAGTGATGGAGGGCGTCTCCCTGT CCTGCCTGCTGCTGGAGGTGCTGGATCCCTGTAGAGGAAACTGGTGCAGT GATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCT GTAGAGGAAAGCGGCGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCT GCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGC GTCTCCCTGTCCTGCCTGCTGCTGGAAGTGCTGGATCGCTGTAGAGGAAA GTGG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1222949	G G	GTGGAGGT others(273): Show GTGGAGGTGCTGGATCGCTGTAGAGGAAAGCGGCGCAGTGATGGAGGGCG TCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAG TGGTGCAGTGATGGAGGGTGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGC TGGACCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTC CTGCCTGCTGGTGGAGGTGCTGGATCGCTGTAGAGGAAAGCGGCGCAGTG ATGGAGGGCGTCTCCCTGTCCTGCCTGCTGC	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0019 a0019	a0019c0030 a0019c0030	a0019c0030t0001 a0019c0030t0001	a0019c0030t0001g0160 a0019c0030t0001g0160	1	190	0.0053	280	c.719 others(299): Show c.719+13748_719+13749insCGGCGCAGTGATGGAGGGCGTCTCCC TGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGC AGTGATGGAGGGTGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGACC GCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCT GCTGGTGGAGGTGCTGGATCGCTGTAGAGGAAAGCGGCGCAGTGATGGAG GGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGG AAAG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1223052	T T	TGCAGTGA others(273): Show TGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGG ATCGCTGTAGAGGAAAGCGGCGCAGTGATGGAGGGCGTCTCCCTGTCCTG CCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATG GAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAG AGGAAACCGGCGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTG GAGGTGCTGGATCGCTGTAGAGGAAACCGGC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0126 a0001c0002t0001g0126	1	190	0.0053	280	c.719 others(299): Show c.719+13891_719+13892insCGCAGTGATGGAGGGCGTCTCCCTGT CCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGT GATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCT GTAGAGGAAACCGGCGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCT GCTGGAGGTGCTGGATCGCTGTAGAGGAAACCGGCGCAGTGATGGAGGGC GTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAA GCGG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SOX5_chr12_23524504_23954670	23837279	T T	TTATATTT others(273): Show TTATATTTATATTTATATAATATATAAGATATATTTATATTTATATAATA TATAAGATATATTTATATTTATATAATATATAAGATATATTTATATTTAT ATAATATATAAGATATATTTATATTTATATAATATATAAGATATATTTAT ATTTATATAATATATAAGATATATTTATATTTATATAATATATAAGATAT ATTTATATTTATATAATATATAAGATATATTTATATTTATATAATATATA AGATATATTTATATTTATATAATATATAAGA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0117 a0001c0001t0117	a0001c0001t0117g0083 a0001c0001t0117g0083	1	212	0.0047	280	c.481 others(297): Show c.481+8424_481+8703dupTCTTATATATTATATAAATATAAATATA TCTTATATATTATATAAATATAAATATATCTTATATATTATATAAATATA AATATATCTTATATATTATATAAATATAAATATATCTTATATATTATATA AATATAAATATATCTTATATATTATATAAATATAAATATATCTTATATAT TATATAAATATAAATATATCTTATATATTATATAAATATAAATATATCTT ATATATTATATAAATATAAATATATCTTATATATTATATAAATATAAATA TA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SPAST_chr2_32058556_32162637	32110761	A A	ATATAGTA others(273): Show ATATAGTATATATAGTATAGTATATATAGTATAGTATACATAGTATAGTA TATATAGTATAGTATACATAGTATAGTATATATAGTATAGTATACATAGT ATAGTATATATAGTATAGTATACATAGTATAGTATATATAGTATAGTATA CATAGTATAGTATATATAGTATAGTATACATAGTATACTATATATAGTAT AGTATACATAGTATACTATATATAGTATAGTATACATAGTATACTATATA TAGTATAGTATACATAGTATACTATATATAG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0069 a0001c0001t0013g0069	1	342	0.0029	280	c.683 others(297): Show c.683-3868_683-3867insTATAGTATAGTATATATAGTATAGTATA CATAGTATAGTATATATAGTATAGTATACATAGTATAGTATATATAGTAT AGTATACATAGTATAGTATATATAGTATAGTATACATAGTATAGTATATA TAGTATAGTATACATAGTATAGTATATATAGTATAGTATACATAGTATAC TATATATAGTATAGTATACATAGTATACTATATATAGTATAGTATACATA GTATACTATATATAGTATAGTATACATAGTATACTATATATAGTATAGTA TA	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPIRE2_chr16_89823475_89876319	89852705	T T	TCCATCTT others(273): Show TCCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCTTCTCTC TCACCCCCCGGATCCCATGATCCATCTTCCATCCTCCCTCTCACCCCCCG GATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGGATCCCATGGC	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0316 a0001c0001t0004g0316	1	356	0.0028	280	c.646 others(297): Show c.646-1579_646-1578insATCTTCCATCCTCCCTCTCACCCCCCGG ATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGC CCGTCTTCCGTCTTCTCTCTCACCCCCCGGATCCCATGATCCATCTTCCA TCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCT CACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGG ATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGC CC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852814	G G	GCATCCCA others(273): Show GCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATG GCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTC CATCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCT CTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCC GCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATG GCCCGTCTTCCGTCCTCCCTCTCACCCTCAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0349 a0001c0001t0001g0349	1	356	0.0028	280	c.646 others(297): Show c.646-1472_646-1471insCATCCCATGGCCCGTCTTCCGTCCTCCC TCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCC CGCATCCCATGGCCCGTCTTCCATCCTCCCTCTCACCCCCCGCATCCCAT GGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTT CCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCC TCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCTC AA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14			chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852908	G G	GTCTTCCA others(273): Show GTCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTC CTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCTCTCTCA CCCCCCGCATCCCATGGCCCCTCTTCCGTCCTCCCTCTCACCCCCCGGAT CCCATGGCCCGTCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGGCCC GTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTC CTCCCTCTCACCCCCCGCATCCCATGGCCCC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	356	0.0028	280	c.646 others(297): Show c.646-1372_646-1371insATCCTCCCTCTCACCCCCCGGATCCCAT GGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTT CCGTCCTCTCTCTCACCCCCCGCATCCCATGGCCCCTCTTCCGTCCTCCC TCTCACCCCCCGGATCCCATGGCCCGTCTTCCATCCTCCCTCTCACCCCC CGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCAT GGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCCTCTT CC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar

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