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
RNF17_chr13_24759169_24884921	24881962	C C	CTATATAG others(275): Show CTATATAGATACATCTATATATAGATACATCTATATATAGATACATCTAT ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATATAG ATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGAT ACATCTATATATAGATATATAGATACATCTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp2 HG03710.hp1 HG03942.hp1 HG01952.hp2 HG03710.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0210 a0001c0001t0001g0228 a0001c0001t0001g0194 a0001c0001t0001g0210 a0001c0001t0001g0228	3	426	0.0070	282	c.22 others(293): Show c.2236_*2237insTATATAGATACATCTATATATAGATACATCTATA TATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATA CATCTATATATAGATACATCTATATATAGATATATAGATACATCTATA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2042		chr13	TogoVar
RNF17_chr13_24759169_24884921	24881964	A A	ATATAGAT others(275): Show ATATAGATACATCTATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATATAG ATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGAT ACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATAC ATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACAT CTATATATAGATACATCTATATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0172 a0003c0006t0001g0172	1	426	0.0024	282	c.22 others(293): Show c.2238_*2239insTATAGATACATCTATATAGATACATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATA CATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACA TCTATATATAGATACATCTATATATAGATACATCTATATATAGATACATC TATATATAGATACATCTATATATAGATACATCTATATATAGATACATC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2044		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882023	T T	TATAGATA others(275): Show TATAGATATATAGATACATCTAGATATATAGATACATCTAGATAGATATA TAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATA CATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTA GATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGA TATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATA GATACATCTAGATAGATATATAGATACATCTAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0084 a0001c0002t0001g0084	1	426	0.0024	282	c.22 others(293): Show c.2297_*2298insATAGATATATAGATACATCTAGATATATAGATAC ATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAG ATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGAT ATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAG ATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACAT CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAG	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2103		chr13	TogoVar
RNF8_chr6_37348983_37399734	37364261	T T	TAAAACCA others(275): Show TAAAACCAGGCTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGAT CGAGACCATCCTGGCTAACAAGGTGAAACCCTGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0151 a0001c0001t0009g0151	1	324	0.0031	282	c.240 others(299): Show c.240+3697_240+3698insTTGGGAGGCCGAGGCGGGTGGATCATGA GGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCTGTCTCTA CTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGA GCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACC AGGC	RNF8	ENSG00000112130.17	transcript	ENST00000373479.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
RNF8_chr6_37348983_37399734	37364261	T T	TAAAACCA others(275): Show TAAAACCAGGCTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGAT GGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0166 a0001c0001t0007g0166	1	324	0.0031	282	c.240 others(299): Show c.240+3697_240+3698insTTGGGAGGCCGAGGCGGGTGGATCATGA GGTCAGGAGATGGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGA GCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACC AGGC	RNF8	ENSG00000112130.17	transcript	ENST00000373479.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(275): Show GGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGGAGGAGGAGGGA GGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGGGG AGGAGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGAAGGGGGAGAAGAAGG AGAAGAAGGAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGGAGGAGAAG GAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGAAGGAGGAGGA GGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGAA	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0335 a0001c0002t0005g0335	1	396	0.0025	282	c.807 others(299): Show c.807-1376_807-1375insTTCTCCTCCTCCTTCTCCTCCTCCTCCT TCTCCTCCTCCTCCTTCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCC TCCTCCTTCTCCTCCTTCCTCTTCCTCTTCTTCCTCTTCCTCTTCTCCTT CTTCTCCTTCTTCTCCCCCTTCTCCCCCTCCCTCCTCCCCCTCCCCCTCC CTCCTCCCCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTCCT CCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCT CCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
SAMD10_chr20_63969116_63984642	63970942	C C	CCTTCCTT others(275): Show CCTTCCTTTTCTCTTTCCTTCTCTTCTCTTCCCTCCCTCCCTTCCTCCCT TCCTTCTCTTCCTTCCCTTACCTTCCTCCCTCCCTTCTTCCTTCCTTTCC TTCCTTCTTCCTTCCTTTTCTCTTTCCTTCCTTCTCTTCTCTTCCCTCCC TCCCTTCCTCCCTTCCTTCTCTTCCTTCCCTTACCTTCCTCCCTCCCTTC TTCCTTCCTTTCCTTCCTTCTTCCTTCCTTTTCTCTTTCCTTCCTTCTCT TCTCTTCCCTCCCTCCCTACCTCCCTTCCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0049 a0001c0002t0007g0049	1	342	0.0029	282	c.45 others(293): Show c.4567_*4568insAGAAGGAAGGGAGGTAGGGAGGGAGGGAAGAGAA GAGAAGGAAGGAAAGAGAAAAGGAAGGAAGAAGGAAGGAAAGGAAGGAAG AAGGGAGGGAGGAAGGTAAGGGAAGGAAGAGAAGGAAGGGAGGAAGGGAG GGAGGGAAGAGAAGAGAAGGAAGGAAAGAGAAAAGGAAGGAAGAAGGAAG GAAAGGAAGGAAGAAGGGAGGGAGGAAGGTAAGGGAAGGAAGAGAAGGAA GGGAGGAAGGGAGGGAGGGAAGAGAAGAGAAGGAAAGAGAAAAGGAAG	SAMD10	ENSG00000130590.14	transcript	ENST00000369886.8	protein_coding		3173		chr20	TogoVar
SARDH_chr9_133658560_133743352	133668865	C C	CCCTCACC others(275): Show CCCTCACCCTCCCTCTCCCTCACCCTCCATCTCCCCTCACCCTCCCTCTC CCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCTCACCTCCCTCTCCC CACCCTCCCTCTCCCTCCCTCTCCCCTCACCCTCCCTCTCCCTCACCCTC CCTCTCCCCTTACCCTCCCTCTTCCCTTACCCTCCCCCTCCCTCTCCCTC ACCTTCCCTCTCCCCTACCCTCCCTCTCCCTCCCCTCACCCTCTCCCTCC CCTCCCTCCTCCATCTCCCCTCACCCTCCCTCT	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0071 a0001c0001t0004g0071	1	262	0.0038	282	c.249 others(301): Show c.2495+1718_2495+1719insAGAGGGAGGGTGAGGGGAGATGGAGG AGGGAGGGGAGGGAGAGGGTGAGGGGAGGGAGAGGGAGGGTAGGGGAGAG GGAAGGTGAGGGAGAGGGAGGGGGAGGGTAAGGGAAGAGGGAGGGTAAGG GGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGGAGAGGGAGGGAGAGG GAGGGTGGGGAGAGGGAGGTGAGGGAGAGGGAGGGTGAGGGGAGAGGGAG GGTGAGGGAGAGGGAGGGTGAGGGGAGATGGAGGGTGAGGGAGAGGGAGG GTGAGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133668865	C C	CCCTCACC others(275): Show CCCTCACCCTCCCTCTCCCTCACCCTCCATCTCCCCTCACCCTCCCTCTC CCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCTCACCTCCCTCTCCC CTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCATCCTCCCTCTCCC TCACCCTCCCTCTCCCCTTACCCTCCCTCTTCCCTTACCCTCCCCCTCCC TCTCCCTCACCTTCCCTCTCCCTACCCTCCCTCTCCCTCACCCTCCCTCT CCCTCACCCTCCATCTCCCCTCACCCTCCCTCT	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0004 a0001c0016t0004	a0001c0016t0004g0064 a0001c0016t0004g0064	1	262	0.0038	282	c.249 others(301): Show c.2495+1718_2495+1719insAGAGGGAGGGTGAGGGGAGATGGAGG GTGAGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTAGGGAGAGGGAAGGTG AGGGAGAGGGAGGGGGAGGGTAAGGGAAGAGGGAGGGTAAGGGGAGAGGG AGGGTGAGGGAGAGGGAGGATGAGGGGAGAGGGAGGGTGAGGGAGAGGGA GGGTGAGGGGAGAGGGAGGTGAGGGAGAGGGAGGGTGAGGGGAGAGGGAG GGTGAGGGAGAGGGAGGGTGAGGGGAGATGGAGGGTGAGGGAGAGGGAGG GTGAGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCAPER_chr15_76342904_76910340	76533664	T T	TAAAATTA others(275): Show TAAAATTATTACACAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGG TCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACT AAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCA GCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0119 a0001c0004t0009g0119	1	312	0.0032	282	c.283 others(303): Show c.2839-28691_2839-28690insTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGTGTA ATAATTTT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	23/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76533664	T T	TAAAATTA others(275): Show TAAAATTATTACACAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGG TCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACT AAAAAATACAAAAAATTAGCCGGGCGTAGTGGTGGGCGCCTGTAGTCCCA GCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 NA18948.hp2 NA18957.hp2 others(1): Show HG01175.hp2 NA18948.hp2 NA18957.hp2 NA18963.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0020 a0001c0001 a0007c0020	a0001c0001t0003 a0007c0020t0003 a0001c0001t0003 a0007c0020t0003	a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0156 others(1): Show a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0156 a0007c0020t0003g0162	4	312	0.0128	282	c.283 others(303): Show c.2839-28691_2839-28690insTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCACCACTACGCCCGGCTAATTTTTT GTATTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGTGTA ATAATTTT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	23/31			chr15	TogoVar
SCARF1_chr17_1628858_1650732	1638608	T T	TGGGCGAC others(275): Show TGGGCGACAAGGCCAGCCCTCCCCACCCCCATCACCTCTGACCCACGGGG GCGACAAGGCCAGCCCTCCCCACCCCCATCACCTCTGACCCACGGGGGCG ACAAGGCCAGCCCTCCCCACCCCCATCACCTCTGACCCACGGGGGCGACA AGGCCAGCCCTCCCCACCCCCATCACCTCTGACCCACGTGGGCGACAAGG CCAGCCCTCCCCACCCCCATCACCTCTGACCCACGGGGGCGACAAGGCCA GCCCTCCCCACCCCCATCACCTCTGACCCACGG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0009 a0009	a0009c0019 a0009c0019	a0009c0019t0002 a0009c0019t0002	a0009c0019t0002g0215 a0009c0019t0002g0215	1	401	0.0025	282	c.136 others(299): Show c.1364+197_1364+198insCCGTGGGTCAGAGGTGATGGGGGTGGGG AGGGCTGGCCTTGTCGCCCCCGTGGGTCAGAGGTGATGGGGGTGGGGAGG GCTGGCCTTGTCGCCCACGTGGGTCAGAGGTGATGGGGGTGGGGAGGGCT GGCCTTGTCGCCCCCGTGGGTCAGAGGTGATGGGGGTGGGGAGGGCTGGC CTTGTCGCCCCCGTGGGTCAGAGGTGATGGGGGTGGGGAGGGCTGGCCTT GTCGCCCCCGTGGGTCAGAGGTGATGGGGGTGGGGAGGGCTGGCCTTGTC GCCC	SCARF1	ENSG00000074660.17	transcript	ENST00000263071.9	protein_coding	8/10			chr17	TogoVar
SCNN1D_chr1_1275436_1297025	1288923	C C	CCGTGTCT others(275): Show CCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	290	0.0035	282	c.166 others(299): Show c.1662+887_1662+888insGTGTCTCTGCCCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289972	G G	GTCTCTGC others(275): Show GTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCG TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCATTCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCATTCCCCGTGTCTCTGCTCCGTCCCGTGTC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0043 a0002c0002t0001g0043	1	290	0.0035	282	c.166 others(299): Show c.1663-296_1663-295insCTGCCCCGTCCCGTGTCTCTGCCCCGTC CCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCATTCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCATTCCCCGTGTCTCTGCTCCGTCCCGTGT CTCT	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCUBE1_chr22_43192280_43348372	43339677	C C	CTCTATGC others(275): Show CTCTATGCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCACTC TATGCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCATTCTAC CCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCATTCTATCCCC CCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTATCCCCCC ACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCATTCTACCCCCCACAA GCATAGCTCCAACCCTCCCCCCACTCTCCTCAT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0036 a0002c0002t0002g0036	1	280	0.0036	282	c.89- others(295): Show c.89-443_89-442insATGAGGAGAGTGGGGGGAGGGTTGGAGCTATG CTTGTGGGGGGTAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAATGCTTG TGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTG GGGGGATAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAATGCTTGTGGGG GGTAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAATGCTTGTGGGGGCAT AGAGTGAGGAGAGTGGGGGAGGGTTGGAGCAATGCTTGTGGGGGCATAGA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43339755	C C	CCCCCACT others(275): Show CCCCCACTCTCCTCATTCTATCCCCCCACAAGCATTGCTCCAACCCTCCC CCACTCTCCTCATTCTACCCCCCACAAGCATAGCTCCAACCCTCCCCCCA CTCTCCTCACTATCCCCCCACAAGCATCACTCCAACCCTCCCCTACTCTC CTCATTCTACCCCCCCCAAGCATAGCTCCAACCCTCCCCCAACTCTCCTC ATTCTACCCCCCCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCA TTCTACCCCCCCCACAAGCACTGCTCCAACCCT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0038 a0001c0004t0038	a0001c0004t0038g0238 a0001c0004t0038g0238	1	280	0.0036	282	c.89- others(295): Show c.89-521_89-520insAGGGTTGGAGCAGTGCTTGTGGGGGGGGTAGA ATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGGGTAGAA TGAGGAGAGTTGGGGGAGGGTTGGAGCTATGCTTGGGGGGGGTAGAATGA GGAGAGTAGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGTGAGGAGA GTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGTAGAATGAGGAGAGTG GGGGAGGGTTGGAGCAATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43339864	A A	ACTCTATC others(275): Show ACTCTATCCCCCCACAAGCATCACTCCAACCCTCCCCTACTCTCCTCACT CTATCCCCCCACAAGCATCACTCCAGCCCTCCCCTACTCTCCTCACTATC CCCCCACAAGCATCACTCCAACCCTCCCCTACTCTCCTCATTCTACCCCC CCCAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTACCCCCCAC AAGCATTGCTCCAACCCTCCCCCCACTCTCCTCATTCTATCCCCCCACAA GCATTGCTTCAACCCTCCCCCACTCTCCTCATT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02258.hp2 HG02055.hp2 HG02258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0018	a0002c0002t0018g0011 a0002c0002t0018g0012 a0002c0002t0018g0011 a0002c0002t0018g0012	2	280	0.0071	282	c.89- others(295): Show c.89-630_89-629insAATGAGGAGAGTGGGGGAGGGTTGAAGCAATG CTTGTGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCAATGCT TGTGGGGGGTAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGG GGGGGGTAGAATGAGGAGAGTAGGGGAGGGTTGGAGTGATGCTTGTGGGG GGATAGTGAGGAGAGTAGGGGAGGGCTGGAGTGATGCTTGTGGGGGGATA GAGTGAGGAGAGTAGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGAG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SEPTIN9_chr17_77276499_77505593	77485015	G G	GCGATTGT others(275): Show GCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGG GGTGATGGTGATTGTGATGGTGGTGATGGGGTGATGGTGGTGATGGGGCG ATGGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGAT GGTGGTGATGGTGATGGTGGTGATTGGTGTGGTGATGTGGGTGGTGGTGG TGATGTGGGTGGTGGTGGTGATTGTGATGGGGTGATGGTAATGTGGGTGA TGGTGATTGTGGTGGTAGTGGTGGTGATGGTGA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0003 a0005c0009t0003	a0005c0009t0003g0054 a0005c0009t0003g0054	1	150	0.0067	282	c.914 others(299): Show c.914-2409_914-2408insCGATTGTGGTGGTGAAGGGGGTGATGGT GATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGG GGTGATGGTGGTGATGGGGCGATGGTGGTGATTGTGATGGTGGTGAAGGG GGTGATGGTGGTGATTGTGATGGTGGTGATGGTGATGGTGGTGATTGGTG TGGTGATGTGGGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATTGTGATG GGGTGATGGTAATGTGGGTGATGGTGATTGTGGTGGTAGTGGTGGTGATG GTGA	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11			chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77485015	G G	GTGATTGT others(275): Show GTGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGG GGTGATGGTGGCGATTGTGGTGGTGATGGGGTGATGGTGGTGATGGGGCG ATGGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGAT GGTGGTGATGGTGATGGTGGTGATTGGTGTGGTGATGTGGGTGGTGGTGG TGATGTGGGTGGTGGTGGTGATTGTGATGGGGTGATGGTAATGTGGGTGA TGGTGATTGTGGTGGTAGTGGTGGTGATGGTGA	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0010 a0001c0001t0053g0010	1	150	0.0067	282	c.914 others(299): Show c.914-2395_914-2394insAAGGGGGTGATGGTGATTGTGATGGTGG TGAAGGGGGTGATGGTGGCGATTGTGGTGGTGATGGGGTGATGGTGGTGA TGGGGCGATGGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGA TTGTGATGGTGGTGATGGTGATGGTGGTGATTGGTGTGGTGATGTGGGTG GTGGTGGTGATGTGGGTGGTGGTGGTGATTGTGATGGGGTGATGGTAATG TGGGTGATGGTGATTGTGGTGGTAGTGGTGGTGATGGTGATGATTGTGAT GGTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77485015	G G	GTGATTGT others(275): Show GTGATTGTGATGGTGGTGATGGTGATGGTGGCGATTGTGGTGGTGAAGGG GGTGATGGTGATTGTGATGGTGGTGATGGGGTGATGGTGGTGATGGGGCG ATGGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGAT GGTGGTGATGGTGATGGTGGTGATTGGTGTGGTGATGTGGGTGGTGGTGG TGATGTGGGTGGTGGTGGTGATTGTGATGGGGTGATGGTAATGTGGGTGA TGGTGATTGTGGTGGTGGTGGTGGTGATGGTGA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0029 a0001c0001t0012g0029	1	150	0.0067	282	c.914 others(299): Show c.914-2391_914-2390insTGGTGATGGTGGCGATTGTGGTGGTGAA GGGGGTGATGGTGATTGTGATGGTGGTGATGGGGTGATGGTGGTGATGGG GCGATGGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGT GATGGTGGTGATGGTGATGGTGGTGATTGGTGTGGTGATGTGGGTGGTGG TGGTGATGTGGGTGGTGGTGGTGATTGTGATGGGGTGATGGTAATGTGGG TGATGGTGATTGTGGTGGTGGTGGTGGTGATGGTGATGATTGTGATGGTG GTGA	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77485015	G G	GCGATTGT others(275): Show GCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGG GGTGATGGTGATTGTGATGGTGGTGATGGGGTGATGGTGGTGATGGGGCG ATGGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGAT GGTGGTGATGGTGATGGTGGTGATTGGTGTGGTGATGTGGGTGGTGGTGG TGATGTGGGTGGTGGTGGTGATTGTGATGGGGTGATGGTAATGTGGGTGA TGGTGATTGTGGTGGTAGTGGTGGTGATGGTGA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0004 a0005c0009t0004	a0005c0009t0004g0146 a0005c0009t0004g0146	1	158	0.0063	282	c.860 others(299): Show c.860-2409_860-2408insCGATTGTGGTGGTGAAGGGGGTGATGGT GATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGG GGTGATGGTGGTGATGGGGCGATGGTGGTGATTGTGATGGTGGTGAAGGG GGTGATGGTGGTGATTGTGATGGTGGTGATGGTGATGGTGGTGATTGGTG TGGTGATGTGGGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATTGTGATG GGGTGATGGTAATGTGGGTGATGGTGATTGTGGTGGTAGTGGTGGTGATG GTGA	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10			chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77485015	G G	GTGATTGT others(275): Show GTGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGG GGTGATGGTGGCGATTGTGGTGGTGATGGGGTGATGGTGGTGATGGGGCG ATGGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGAT GGTGGTGATGGTGATGGTGGTGATTGGTGTGGTGATGTGGGTGGTGGTGG TGATGTGGGTGGTGGTGGTGATTGTGATGGGGTGATGGTAATGTGGGTGA TGGTGATTGTGGTGGTAGTGGTGGTGATGGTGA	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0148 a0001c0001t0015g0148	1	158	0.0063	282	c.860 others(299): Show c.860-2395_860-2394insAAGGGGGTGATGGTGATTGTGATGGTGG TGAAGGGGGTGATGGTGGCGATTGTGGTGGTGATGGGGTGATGGTGGTGA TGGGGCGATGGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGA TTGTGATGGTGGTGATGGTGATGGTGGTGATTGGTGTGGTGATGTGGGTG GTGGTGGTGATGTGGGTGGTGGTGGTGATTGTGATGGGGTGATGGTAATG TGGGTGATGGTGATTGTGGTGGTAGTGGTGGTGATGGTGATGATTGTGAT GGTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHC2_chr19_411589_466033	431888	C C	CAGATAGA others(275): Show CAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGG AGGCCGGGCAGATAGATGGCGCTTCATCGTGAGATCGTGAGTGAGAGTTA GAGGAGGCCGGGCAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGA GATAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGT GAGTGAGAGTTAGAGGAGGCCGGGCAGATGGCGCTTCATCGTGAGTGAGA TCGTGAGTGAGAGATAGAGGAGGCCAGGCAGAT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0005 a0005c0009t0005	a0005c0009t0005g0048 a0005c0009t0005g0048	1	212	0.0047	282	c.111 others(301): Show c.1111-1142_1111-1141insATCTGCCTGGCCTCCTCTATCTCTCA CTCACGATCTCACTCACGATGAAGCGCCATCTGCCCGGCCTCCTCTAACT CTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCGGCCTC CTCTATCTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTGCCCGG CCTCCTCTAACTCTCACTCACGATCTCACGATGAAGCGCCATCTATCTGC CCGGCCTCCTCTAACTCTCACTCACGATCTCACTCACGATGAAGCGCCAT CTATCT	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	432120	T T	TAGATGGC others(275): Show TAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGC GGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTA GAGGAGGCTGGGCAGATAGATGGCACTTCATCGTGAGTGAGATCGTGAGT GAGAGATAGAGGAGGCTGGGCAGATGGCGCTTCATCGTGAGTGAGATCGT GAGTGAGAGATAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGT GAGATCGTGAGTGAGAGTTAGAGGAGGCCAGGC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03225.hp2 HG01109.hp2 HG03225.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0005 a0004c0011t0005	a0004c0011t0005g0059 a0004c0011t0005g0063 a0004c0011t0005g0059 a0004c0011t0005g0063	2	212	0.0094	282	c.111 others(301): Show c.1111-1374_1111-1373insGCCTGGCCTCCTCTAACTCTCACTCA CGATCTCACTCACGATGAAGCGCCATCTATCTGCCCGGCCTCCTCTATCT CTCACTCACGATCTCACTCACGATGAAGCGCCATCTGCCCAGCCTCCTCT ATCTCTCACTCACGATCTCACTCACGATGAAGTGCCATCTATCTGCCCAG CCTCCTCTAACTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTAT CTGCCCCGCCTCCTCTAACTCTCACTCACGATCTCACTCACGATGAAGCG CCATCT	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	432147	C C	CGTGAGTG others(275): Show CGTGAGTGAGAGTTAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTG AGTGAGATCGTGAGTGAGAGTTAGAGGAGGCCGGGCAGATGGCGCTTCAT CGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGCCGGGCAGATAGATGG CGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGCCGGGCAG ATAGATGGCACTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGG CCGGGCAGATGGCGCTTCATCGTGAGTGAGATA	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18960.hp1 NA18995.hp2 others(1): Show NA18954.hp2 NA18960.hp1 NA18995.hp2 NA18999.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0012 a0001c0003 a0002c0012	a0001c0003t0002 a0002c0012t0002 a0001c0003t0002 a0002c0012t0002	a0001c0003t0002g0069 a0001c0003t0002g0075 a0001c0003t0002g0076 others(1): Show a0001c0003t0002g0069 a0001c0003t0002g0075 a0001c0003t0002g0076 a0002c0012t0002g0203	4	212	0.0189	282	c.111 others(301): Show c.1111-1401_1111-1400insTATCTCACTCACGATGAAGCGCCATC TGCCCGGCCTCCTCTAACTCTCACTCACGATCTCACTCACGATGAAGTGC CATCTATCTGCCCGGCCTCCTCTAACTCTCACTCACGATCTCACTCACGA TGAAGCGCCATCTATCTGCCCGGCCTCCTCTATCTCTCACTCACGATCTC ACTCACGATGAAGCGCCATCTGCCCGGCCTCCTCTAACTCTCACTCACGA TCTCACTCACGATGAAGCGCCATCTATCTGCCCGGCCTCCTCTAACTCTC ACTCAC	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	432321	C C	CGTGAGTG others(275): Show CGTGAGTGAGAGTTAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTG AGTGAGATCGTGAGTGAGAGTTAGAGGAGGCCGGGCAGATGGCGCTTCAT CGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGCCGGGCAGATAGATGG CGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGCCGGGCAG ATAGATGGCACTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGG CCGGGCAGATGGCGCTTCATCGTGAGTGAGATA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0012 a0008c0015t0012	a0008c0015t0012g0027 a0008c0015t0012g0027	1	212	0.0047	282	c.111 others(301): Show c.1111-1575_1111-1574insTATCTCACTCACGATGAAGCGCCATC TGCCCGGCCTCCTCTAACTCTCACTCACGATCTCACTCACGATGAAGTGC CATCTATCTGCCCGGCCTCCTCTAACTCTCACTCACGATCTCACTCACGA TGAAGCGCCATCTATCTGCCCGGCCTCCTCTATCTCTCACTCACGATCTC ACTCACGATGAAGCGCCATCTGCCCGGCCTCCTCTAACTCTCACTCACGA TCTCACTCACGATGAAGCGCCATCTATCTGCCCGGCCTCCTCTAACTCTC ACTCAC	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	432391	T T	TTAGAGGA others(275): Show TTAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTG AGTGAGAGTTAGAGGAGGCCGGGCAGATGGCGCTTCATCGTGAGTGAGAT CGTGAGTGAGAGATAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTG AGTGAGATCGTGAGTGAGAGTTAGAGGAGGCCGGGCAGATAGATGGCACT TCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGCCGGGCAGATGG CGCTTCATCGTGAGTGAGATAGTGAGTGAGAGA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0014 a0001c0006t0006g0014	1	212	0.0047	282	c.111 others(301): Show c.1111-1645_1111-1644insTCTCTCACTCACTATCTCACTCACGA TGAAGCGCCATCTGCCCGGCCTCCTCTAACTCTCACTCACGATCTCACTC ACGATGAAGTGCCATCTATCTGCCCGGCCTCCTCTAACTCTCACTCACGA TCTCACTCACGATGAAGCGCCATCTATCTGCCCGGCCTCCTCTATCTCTC ACTCACGATCTCACTCACGATGAAGCGCCATCTGCCCGGCCTCCTCTAAC TCTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCGGCCT CCTCTA	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	432584	T T	TGGCGCTT others(275): Show TGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGCCGGG CAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGG AGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGA GTTAGAGGAGGCCAGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGT GAGTGAGAGTTAGAGGAGGCGGGGCAGATAGATGGCGCTTCATCGTGAGT GAGATCGTGAGTGAGAGTTAGAGGAGGCCGGGC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0005 a0004c0011t0005	a0004c0011t0005g0059 a0004c0011t0005g0059	1	212	0.0047	282	c.111 others(301): Show c.1111-1838_1111-1837insGCCCGGCCTCCTCTAACTCTCACTCA CGATCTCACTCACGATGAAGCGCCATCTATCTGCCCCGCCTCCTCTAACT CTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCTGGCCTC CTCTAACTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGC CCGGCCTCCTCTATCTCTCACTCACGATCTCACTCACGATGAAGCGCCAT CTATCTGCCCGGCCTCCTCTAACTCTCACTCACGATCTCACTCACGATGA AGCGCC	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SIGIRR_chr11_400716_419999	401214	C C	CCCCGCTC others(275): Show CCCCGCTCACCCCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCC GCTCACCCCCGGCCCCGCTCACCACCCCGCCCCGCTCACACCCGCCCCGC TCACCCCCGGCCCGCTCACACCCGGCCCGCTCACACCCGGCCCCGCTCAC ACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCC CGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCG CCCCGCTCACACCCCGGCCCCGCTCACACCCGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	242	0.0041	282	c.46 others(293): Show c.4681_*4682insTCGGGTGTGAGCGGGGCCGGGGTGTGAGCGGGGC GGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCCGG GGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTG TGAGCGGGGCCGGGTGTGAGCGGGCCGGGTGTGAGCGGGCCGGGGGTGAG CGGGGCGGGTGTGAGCGGGGCGGGGTGGTGAGCGGGGCCGGGGGTGAGCG GGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCGGGGGTGAGCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4501		chr11	TogoVar
SIGLEC14_chr19_51634478_51651825	51636051	C C	CTAATTTT others(275): Show CTAATTTTCGATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCCGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG02615.hp2 HG03516.hp1 others(1): Show HG01346.hp2 HG02615.hp2 HG03516.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0031 a0001c0001t0041 a0001c0001t0066 others(1): Show a0001c0001t0031 a0001c0001t0041 a0001c0001t0066 a0001c0002t0012	a0001c0001t0031g0024 a0001c0001t0041g0123 a0001c0001t0066g0132 others(1): Show a0001c0001t0031g0024 a0001c0001t0041g0123 a0001c0001t0066g0132 a0001c0002t0012g0105	4	300	0.0133	282	c.73 others(293): Show c.7303_*7304insTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTA CTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTG CAGTGAGCGGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAATCGAAAATTA	SIGLEC14	ENSG00000254415.4	transcript	ENST00000360844.7	protein_coding		3426		chr19	TogoVar
SIMC1_chr5_176233424_176350989	176305356	G G	GAGGGAGG others(275): Show GAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCCCGTCTGGG AGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	360	0.0028	282	c.173 others(301): Show c.1735-8335_1735-8334insAGGGAGGTGGGGGGGTCAGCCCTCCG CCCGGCCAACCCCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCTGCCCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGT	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9			chr5	TogoVar
SLC9A3_chr5_465456_529449	502826	C C	CGCCGAAA others(275): Show CGCCGAAAGCCGCCGTAATGACAGATGGGCGCTGTGTTCCAGTGAAACTT TACCACTCACTACCAGTGAGGCCGAAAGCCGCCGTAACGACACAGATGGG CGCTGTGTTCCAGTGAAACTTTACCACTCACTACCACTGAGGCCGAAAGC TGCCGTAACGACACAGATGGGCGCTGTGTTCCAGTGAAACTTTACCACTC ACTACCACTGAGGCCGAAAGCTGCCGTAACGACACAGATGGGCGCTGTGT TCCAGTGAAACTTTACCACTCACTACCACTGAG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03195.hp2 HG02486.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0105 a0001c0001t0010g0106 a0001c0001t0010g0105 a0001c0001t0010g0106	2	218	0.0092	282	c.212 others(301): Show c.212-10756_212-10755insCTCAGTGGTAGTGAGTGGTAAAGTTT CACTGGAACACAGCGCCCATCTGTGTCGTTACGGCAGCTTTCGGCCTCAG TGGTAGTGAGTGGTAAAGTTTCACTGGAACACAGCGCCCATCTGTGTCGT TACGGCAGCTTTCGGCCTCAGTGGTAGTGAGTGGTAAAGTTTCACTGGAA CACAGCGCCCATCTGTGTCGTTACGGCGGCTTTCGGCCTCACTGGTAGTG AGTGGTAAAGTTTCACTGGAACACAGCGCCCATCTGTCATTACGGCGGCT TTCGGC	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SMYD3_chr1_245744347_246512279	246325270	G G	GGGGGGCG others(275): Show GGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAA GGAGTCGCGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGG AGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCG GGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGG GGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGG AGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0105 a0002c0003t0001g0105	1	150	0.0067	282	c.531 others(299): Show c.531+1930_531+1931insGACTCCTTCTCCCTCCTTCCCGCCCCCC CGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCC GCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTC CTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTC TCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCGCG ACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGC CCCC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNTG2_chr2_945849_1372613	1143707	T T	TAAAATAC others(275): Show TAAAATACAAAAAAACACACTTTGGGAGGCCGAGGCGGGCGGATCACGAG GTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0165 a0002c0003t0001g0165	1	190	0.0053	282	c.411 others(299): Show c.411+5914_411+5915insCACTTTGGGAGGCCGAGGCGGGCGGATC ACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAG TCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG CGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAA AACA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1143707	T T	TAAAATAC others(275): Show TAAAATACAAAAAAACACACTTTGGGAGGCCGAGGCGGGCGGATGACGAG GTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02451.hp2 HG02717.hp1 others(5): Show HG01169.hp2 HG02451.hp2 HG02717.hp1 HG02886.hp1 HG02970.hp2 HG03579.hp2 NA18522.hp1 NA18968.hp1	a0001 a0005 a0015 a0001 a0005 a0015	a0001c0001 a0005c0006 a0015c0025 a0001c0001 a0005c0006 a0015c0025	a0001c0001t0001 a0005c0006t0001 a0015c0025t0001 a0001c0001t0001 a0005c0006t0001 a0015c0025t0001	a0001c0001t0001g0123 a0005c0006t0001g0079 a0005c0006t0001g0081 others(5): Show a0001c0001t0001g0123 a0005c0006t0001g0079 a0005c0006t0001g0081 a0005c0006t0001g0082 a0005c0006t0001g0083 a0005c0006t0001g0085 a0005c0006t0001g0086 a0015c0025t0001g0034	8	190	0.0421	282	c.411 others(299): Show c.411+5914_411+5915insCACTTTGGGAGGCCGAGGCGGGCGGATG ACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAG TCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG CGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAA AACA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1143707	T T	TAAAATAC others(275): Show TAAAATACAAAAAAACACACTTTGGGAGGCCGAGGCGGGCGGATGACGAG GTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCCTGGCGTGGTAGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00673.hp1 HG00673.hp2 others(20): Show HG00438.hp2 HG00673.hp1 HG00673.hp2 HG02015.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02258.hp2 HG02280.hp2 HG02486.hp2 HG02559.hp1 HG02895.hp2 HG02922.hp1 HG03239.hp2 HG03540.hp1 HG03942.hp2 NA18942.hp2 NA18970.hp1 NA18986.hp1 NA19043.hp2 NA19084.hp2 NA20129.hp1 NA20300.hp2	a0001 a0003 a0004 others(5): Show a0001 a0003 a0004 a0006 a0007 a0008 a0009 a0010	a0001c0001 a0001c0002 a0003c0007 others(12): Show a0001c0001 a0001c0002 a0003c0007 a0003c0008 a0003c0026 a0004c0004 a0006c0009 a0006c0010 a0007c0016 a0007c0017 a0007c0024 a0008c0011 a0008c0031 a0009c0012 a0010c0013	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(13): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0003c0007t0001 a0003c0008t0002 a0003c0026t0001 a0004c0004t0001 a0006c0009t0001 a0006c0010t0001 a0007c0016t0001 a0007c0017t0001 a0007c0024t0002 a0008c0011t0001 a0008c0031t0001 a0009c0012t0001 a0010c0013t0001	a0001c0001t0001g0039 a0001c0002t0001g0115 a0001c0002t0001g0170 others(20): Show a0001c0001t0001g0039 a0001c0002t0001g0115 a0001c0002t0001g0170 a0001c0002t0002g0002 a0003c0007t0001g0108 a0003c0008t0002g0072 a0003c0026t0001g0097 a0004c0004t0001g0040 a0004c0004t0001g0150 a0004c0004t0001g0151 a0004c0004t0001g0177 a0006c0009t0001g0121 a0006c0010t0001g0006 a0006c0010t0001g0009 a0007c0016t0001g0033 a0007c0017t0001g0105 a0007c0017t0001g0118 a0007c0024t0002g0073 a0008c0011t0001g0128 a0008c0011t0001g0188 a0008c0031t0001g0110 a0009c0012t0001g0066 a0010c0013t0001g0132	23	190	0.1211	282	c.411 others(299): Show c.411+5914_411+5915insCACTTTGGGAGGCCGAGGCGGGCGGATG ACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCTGGCGTGGTAGCGGGCGCCTGTAG TCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG CGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAA AACA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SORCS2_chr4_7187538_7747827	7724369	A A	ATGATGGT others(275): Show ATGATGGTGGTGATAGGGTGGTGGTGATGGTGATAGTAGTGGTGGGAATG GATGGTGGTGGTGATAATGGTGACAATGGTGGTGGTGATGGTGGTGGTGA TGGTGATGGTGGTGATGATGGTGGTGGTGACAATGGTGGTGGTGATGGTG GTGATAGGGTGGTGGTGATGGTGATAGTAGTGGTGGGAATGGATGGTGGT GGTGATAATGGTGACAATGGTGGTGGTGATGGTGGTGGTGATGGTGATGG TGGTGATGATGGTGGTGGTGACAATGGTGGTGG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0053 a0001c0002t0053	a0001c0002t0053g0082 a0001c0002t0053g0082	1	168	0.0060	282	c.261 others(299): Show c.2611+505_2611+506insGTGGTGATGGTGATAGTAGTGGTGGGAA TGGATGGTGGTGGTGATAATGGTGACAATGGTGGTGGTGATGGTGGTGGT GATGGTGATGGTGGTGATGATGGTGGTGGTGACAATGGTGGTGGTGATGG TGGTGATAGGGTGGTGGTGATGGTGATAGTAGTGGTGGGAATGGATGGTG GTGGTGATAATGGTGACAATGGTGGTGGTGATGGTGGTGGTGATGGTGAT GGTGGTGATGATGGTGGTGGTGACAATGGTGGTGGTGATGGTGGTGATAG GGTG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7724931	A A	AGTAGTGG others(275): Show AGTAGTGGTGATGGTGGTGGTGTTGGTGATGATGGTGGTGATAGTGCTGG TGAGGATGGTGATGGTGGTGATGGTGGTGGTGATGGCAGTGATGATGGTG GAGGTGATGGTGGTAGTGGTGATGATGGTAGTAGTGGTGATGGTGGTGAT GGTGGTGGTGATGGCAGTGATGATGGTGGAGGTGATGGTGGTAGTTATGG TGAGGATGGTGATGGTGGTGATGGTGGTGGTGATGGCAGTGATGATGGTG GAGGTGATGGTGGTAGTTATGGTGATGATGGTG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00642.hp1 HG01070.hp1 others(15): Show HG00438.hp2 HG00642.hp1 HG01070.hp1 HG01175.hp1 HG01258.hp1 HG01261.hp2 HG02293.hp2 HG02602.hp2 HG02970.hp1 HG03017.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03942.hp2 HG04228.hp1 HG06807.hp2 NA18906.hp2 NA19000.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0017	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0029 a0001c0049 a0002c0004 a0003c0012 a0017c0040	a0001c0001t0005 a0001c0001t0032 a0001c0001t0068 others(15): Show a0001c0001t0005 a0001c0001t0032 a0001c0001t0068 a0001c0001t0069 a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 a0001c0003t0005 a0001c0003t0019 a0001c0005t0019 a0001c0006t0002 a0001c0006t0005 a0001c0006t0066 a0001c0029t0040 a0001c0049t0001 a0002c0004t0002 a0003c0012t0055 a0017c0040t0004	a0001c0001t0005g0130 a0001c0001t0032g0141 a0001c0001t0068g0007 others(15): Show a0001c0001t0005g0130 a0001c0001t0032g0141 a0001c0001t0068g0007 a0001c0001t0069g0092 a0001c0002t0002g0133 a0001c0002t0003g0131 a0001c0003t0001g0081 a0001c0003t0005g0079 a0001c0003t0019g0023 a0001c0005t0019g0104 a0001c0006t0002g0118 a0001c0006t0005g0165 a0001c0006t0066g0084 a0001c0029t0040g0109 a0001c0049t0001g0059 a0002c0004t0002g0127 a0003c0012t0055g0033 a0017c0040t0004g0024	18	168	0.1071	282	c.261 others(299): Show c.2612-193_2612-192insATGGTGGTGATAGTGCTGGTGAGGATGG TGATGGTGGTGATGGTGGTGGTGATGGCAGTGATGATGGTGGAGGTGATG GTGGTAGTGGTGATGATGGTAGTAGTGGTGATGGTGGTGATGGTGGTGGT GATGGCAGTGATGATGGTGGAGGTGATGGTGGTAGTTATGGTGAGGATGG TGATGGTGGTGATGGTGGTGGTGATGGCAGTGATGATGGTGGAGGTGATG GTGGTAGTTATGGTGATGATGGTGGTAGTGGTGATGGTGGTGGTGTTGGT GATG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(275): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCTCCTC CCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCT CTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	282	c.54 others(293): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGA AGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPINK6_chr5_148198042_148220137	148210246	A A	ATTTCTGC others(275): Show ATTTCTGCATGCATATGTATGTGTTTCTGCATACATATATATGTATGTGT TTCTGCATACATATATATGTATGTGTTTCTGCATACATATATATGTATGT GTTTCTGCATACATATATATGTATGTGTTTCTGCATACATATATATGTAT GTGTTTCTGCATACATATATATGTATGTGTTTCTGCATACATATATATGT ATGTGTTTCTGCATACATATATATGTATGTGTTTCTGCATACATATATAT GTATGTGTTTCTGCATACATATATATGTATGTG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03209.hp2 HG02886.hp1 HG03209.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0029 a0002c0002t0002g0029	2	438	0.0046	282	c.82- others(297): Show c.82-3655_82-3654insGCATATGTATGTGTTTCTGCATACATATAT ATGTATGTGTTTCTGCATACATATATATGTATGTGTTTCTGCATACATAT ATATGTATGTGTTTCTGCATACATATATATGTATGTGTTTCTGCATACAT ATATATGTATGTGTTTCTGCATACATATATATGTATGTGTTTCTGCATAC ATATATATGTATGTGTTTCTGCATACATATATATGTATGTGTTTCTGCAT ACATATATATGTATGTGTTTCTGCATACATATATATGTATGTGTTTCTGC AT	SPINK6	ENSG00000178172.7	transcript	ENST00000325630.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
TCF25_chr16_89868592_89916379	89907833	C C	CCCAGTTT others(275): Show CCCAGTTTCCACCTCCCAGCTCCCACCTCCCTCCTCCCTCCTCCCAGCTC CCGGCTCCCACCTCCCAGTTTCCACCTCCCAGCTCCAACCTCCCACCTCC CAACTCCCTCCTCCCACCCCCCACCTCCCACCTCCCAGTTTCCACCTCCC AGCTCCAACCTCCCTCCTCCCTCCTTCCAGTTCCCACCTCCCAGCTCCCA CCTCCCACCTCCCAGCTCCCACCTCTCTCCTCCCTCCTCCCAGCTCCCGG CTCCCACCTCCCAGTTTCCACCTCCCAGCTCCA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG03209.hp1 others(2): Show HG02896.hp1 HG02897.hp2 HG03209.hp1 NA19030.hp2 NA19043.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0005 a0002c0003t0001g0275 a0002c0003t0001g0281 others(1): Show a0002c0003t0001g0005 a0002c0003t0001g0275 a0002c0003t0001g0281 a0002c0003t0001g0282	5	300	0.0167	282	c.179 others(299): Show c.1799+511_1799+512insCCAGTTTCCACCTCCCAGCTCCCACCTC CCTCCTCCCTCCTCCCAGCTCCCGGCTCCCACCTCCCAGTTTCCACCTCC CAGCTCCAACCTCCCACCTCCCAACTCCCTCCTCCCACCCCCCACCTCCC ACCTCCCAGTTTCCACCTCCCAGCTCCAACCTCCCTCCTCCCTCCTTCCA GTTCCCACCTCCCAGCTCCCACCTCCCACCTCCCAGCTCCCACCTCTCTC CTCCCTCCTCCCAGCTCCCGGCTCCCACCTCCCAGTTTCCACCTCCCAGC TCCA	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	16/17			chr16	TogoVar
TCF25_chr16_89868592_89916379	89907833	C C	CCCGGCTC others(275): Show CCCGGCTCCCACCTCCCAGTTTCCACCTCCCAGCTCCAACCTCCCTCCTC CCTCCTTCCAGTTCCCACCTCCCAGCTCCCACCTCCCACCTCCCAGCACC CACCTCTCTCCTCCCTCCTCCCAGCTCCTGGCTCCCACCTCCCAGTTTCC ACCTCCCAGCTCCAACCTCCCTCCTCCCTCCTTCCAGTTCCCACCTCCCA GCTCCCACCTCCCAGCTCCCACCTCTCTCCTCCCTCCTCCCAGCTCCCGG CTCCCACCTCCCAGTTTCCACCTCCCAGCTCCA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02615.hp1 HG03098.hp2 HG01884.hp1 HG02615.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0186 a0001c0001t0001g0192 a0001c0001t0001g0163 a0001c0001t0001g0186 a0001c0001t0001g0192	3	300	0.0100	282	c.179 others(299): Show c.1799+511_1799+512insCCGGCTCCCACCTCCCAGTTTCCACCTC CCAGCTCCAACCTCCCTCCTCCCTCCTTCCAGTTCCCACCTCCCAGCTCC CACCTCCCACCTCCCAGCACCCACCTCTCTCCTCCCTCCTCCCAGCTCCT GGCTCCCACCTCCCAGTTTCCACCTCCCAGCTCCAACCTCCCTCCTCCCT CCTTCCAGTTCCCACCTCCCAGCTCCCACCTCCCAGCTCCCACCTCTCTC CTCCCTCCTCCCAGCTCCCGGCTCCCACCTCCCAGTTTCCACCTCCCAGC TCCA	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	16/17			chr16	TogoVar
TEKT5_chr16_10622501_10699930	10698043	C C	CTGATATT others(275): Show CTGATATTAATAAAATATCCATATTTATAATATATAGTCTTAACACACAG GGTTAACACACTATGCTATTAATAAAATATCACAAAACACACAATGATTA ATAAAATATCTATATTTATATTTATAATATCTATATTTATAATATCTAGT GTTAACATACAGTGTTAACACACTATAATATTAAAAAATATCTATGATAT TGAAAATATCTAGTGTTAAAACATTAAGATATTAATAAAATATCTATGAT ATTTATAGTAGCTAGTGTTAATACACACTGTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0192 a0001c0003t0001g0192	1	388	0.0026	282	c.-31 others(293): Show c.-3171_-3170insTAACAGTGTGTATTAACACTAGCTACTATAAATA TCATAGATATTTTATTAATATCTTAATGTTTTAACACTAGATATTTTCAA TATCATAGATATTTTTTAATATTATAGTGTGTTAACACTGTATGTTAACA CTAGATATTATAAATATAGATATTATAAATATAAATATAGATATTTTATT AATCATTGTGTGTTTTGTGATATTTTATTAATAGCATAGTGTGTTAACCC TGTGTGTTAAGACTATATATTATAAATATGGATATTTTATTAATATCA	TEKT5	ENSG00000153060.8	transcript	ENST00000283025.7	protein_coding		3114		chr16	TogoVar
TENM4_chr11_78647829_79446030	79138835	C C	CCTTATAT others(275): Show CCTTATATTTATATAAATATATAAAATATATATTATATTTCTATAAATAT ATATTACATTTCCATAAATATATAAAATATATATTATATTTCCATAAATA TATAAAATATATATTATATTTCTATAAATATATAAAATATATATTATATT TATATAAATATATATTATATTTCTATAAATATATAAAATATATATTATAT TTCTATAAATATATAAAATATATATTATATTTCTATAAATATATAAAATA TATATTATATTTCTATAAATATATAAAATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0023 a0001c0006t0005g0023	1	94	0.0106	282	c.-66 others(299): Show c.-66+9874_-66+9875insATATATTTTATATATTTATAGAAATATA ATATATATTTTATATATTTATAGAAATATAATATATATTTTATATATTTA TAGAAATATAATATATATTTTATATATTTATAGAAATATAATATATATTT ATATAAATATAATATATATTTTATATATTTATAGAAATATAATATATATT TTATATATTTATGGAAATATAATATATATTTTATATATTTATGGAAATGT AATATATATTTATAGAAATATAATATATATTTTATATATTTATATAAATA TAAG	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	4/33			chr11	TogoVar
TERT_chr5_1248167_1300068	1273788	C C	CCGATCGC others(275): Show CCGATCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACA GTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGA CCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCA TCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCAC ACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCAC GACCGCCATCCACAGTCACCACATCAGACCCCA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0003 a0003	a0003c0029 a0003c0029	a0003c0029t0001 a0003c0029t0001	a0003c0029t0001g0177 a0003c0029t0001g0177	1	392	0.0026	282	c.228 others(301): Show c.2287-1509_2287-1508insTGGGGTCTGATGTGGTGACTGTGGAT GGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGT CGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTG TGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGG CGATCG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THEG_chr19_356747_381026	377189	G G	GCCCCACC others(275): Show GCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTG TGCCCCACCCAGCCTCTCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTG TGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCT CTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCC CTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCC CCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0198 a0001c0001t0003g0198	1	370	0.0027	282	c.-12 others(293): Show c.-1220_-1219insGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGG GGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGAGG GGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGA GGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCAC AGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGAGAGGCTGGGTGGGGCAC AGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1164		chr19	TogoVar
TH_chr11_2158929_2176815	2161846	A A	ACACCCCT others(275): Show ACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCACACCCC TGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCC AGACCCCTATCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCT GTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAC ACCCCTATCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGT CCCCGGGACCCCTGTCCCCACACCCCTGTCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0058 a0001c0004t0001g0058	1	388	0.0026	282	c.23 others(293): Show c.2386_*2387insGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGA CAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGATAGGGGTG TGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACA GGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGATAGGGGTCTG GGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAG GGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTG	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2082		chr11	TogoVar
TM4SF19_chr3_196318547_196343388	196334895	G G	GATGCCCT others(275): Show GATGCCCTGAGAAGGTGGGGGTTGGAGAGGGGAGGGGTGCTCTGGGAGGG TGGGTGTAGGAGAGGGAAGGGATGCCCTGAGAAGGTGGGGGTTGGAGAGG GGAGGGGTGCTCTGGGAGGGTGGGTGTAGGAGAGGGAAGGGATGCCCTGA GAAGGTGGGGGTTAGGAGAAGGGAGGGGTGCACTGGGAGGGTGGGTGTAG GAGAGGGAAGGGATGCCCTGAGAAGGTGGGGGTTGGAGAGGGGAGGGGTG CTCTGGGAGGGTGGGTGTAGGAGAGGGAAGGGA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0046 a0002c0002t0001g0046	1	370	0.0027	282	c.-2+ others(297): Show c.-2+3368_-2+3369insTCCCTTCCCTCTCCTACACCCACCCTCCCA GAGCACCCCTCCCCTCTCCAACCCCCACCTTCTCAGGGCATCCCTTCCCT CTCCTACACCCACCCTCCCAGTGCACCCCTCCCTTCTCCTAACCCCCACC TTCTCAGGGCATCCCTTCCCTCTCCTACACCCACCCTCCCAGAGCACCCC TCCCCTCTCCAACCCCCACCTTCTCAGGGCATCCCTTCCCTCTCCTACAC CCACCCTCCCAGAGCACCCCTCCCCTCTCCAACCCCCACCTTCTCAGGGC AT	TM4SF19	ENSG00000145107.16	transcript	ENST00000273695.4	protein_coding	1/4			chr3	TogoVar
TM4SF19_chr3_196318547_196343388	196335076	A A	ACTGGGAG others(275): Show ACTGGGAGGGTGGGTGTAGGAGAGGGAAGGGATGCCCTGAGAAGGTGGGG GTTGGAGAGGGGAGGGGTGCACTGGGAGGGTGGGTGTAGGAGAGGGAAGG GATGCCCTGAGAAGGTGGGGGTTAGGAGAAGGGAGGGGTGCACTGGGAGG GTGGGTGTAGGAGAGGGAAGGGATGCCCTGAGAAGGTGGGGGTTAGGAGA AGGGAGGGGTGCACTGGGAGGGTGGGTGTAGGAGAGGGAAGGGATGCCCT GAGAAGGTGGGGGTTGGAGAGGGGAGGGGTGCT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	370	0.0027	282	c.-2+ others(297): Show c.-2+3187_-2+3188insAGCACCCCTCCCCTCTCCAACCCCCACCTT CTCAGGGCATCCCTTCCCTCTCCTACACCCACCCTCCCAGTGCACCCCTC CCTTCTCCTAACCCCCACCTTCTCAGGGCATCCCTTCCCTCTCCTACACC CACCCTCCCAGTGCACCCCTCCCTTCTCCTAACCCCCACCTTCTCAGGGC ATCCCTTCCCTCTCCTACACCCACCCTCCCAGTGCACCCCTCCCCTCTCC AACCCCCACCTTCTCAGGGCATCCCTTCCCTCTCCTACACCCACCCTCCC AG	TM4SF19	ENSG00000145107.16	transcript	ENST00000273695.4	protein_coding	1/4			chr3	TogoVar
TMCO3_chr13_113486021_113555229	113543276	C C	CCCCCCGT others(275): Show CCCCCCGTCCGTGACCCCCACCTCCTCCCCCTGCCCCTCGCCCTCCCTGT CCGTGACCACCTCCTCCCCCTGCGCCCCTACCCTCCCTGTGTGTTACCCC CACCTCCTCTCCCTGCCCCCACTCTGTCCGTGACCCCCACCTCCTCCCCT TGCCCCCCCGCCCTCCCTCTGTCCGTGACCCCCACCTCCTCTCCCTGCCC CCACTCTGTCCGTGACCCCCACCTCCTCCCCCTGACCCCCTGCCCTCCCT CTGTCCGTGACCCCCTCCTCCCCCTGTGCCCCA	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18966.hp1 NA18994.hp1 HG00609.hp1 NA18966.hp1 NA18994.hp1	a0003 a0006 a0003 a0006	a0003c0002 a0006c0010 a0003c0002 a0006c0010	a0003c0002t0002 a0006c0010t0002 a0003c0002t0002 a0006c0010t0002	a0003c0002t0002g0051 a0006c0010t0002g0050 a0006c0010t0002g0053 a0003c0002t0002g0051 a0006c0010t0002g0050 a0006c0010t0002g0053	3	368	0.0082	282	c.169 others(301): Show c.1690+3772_1690+3773insCCGTCCGTGACCCCCACCTCCTCCCC CTGCCCCTCGCCCTCCCTGTCCGTGACCACCTCCTCCCCCTGCGCCCCTA CCCTCCCTGTGTGTTACCCCCACCTCCTCTCCCTGCCCCCACTCTGTCCG TGACCCCCACCTCCTCCCCTTGCCCCCCCGCCCTCCCTCTGTCCGTGACC CCCACCTCCTCTCCCTGCCCCCACTCTGTCCGTGACCCCCACCTCCTCCC CCTGACCCCCTGCCCTCCCTCTGTCCGTGACCCCCTCCTCCCCCTGTGCC CCACCC	TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr13	TogoVar

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