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
SCNN1D_chr1_1275436_1297025	1289747	C C	CCGTGTCT others(177): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0023 a0002c0002t0001g0023	1	290	0.0035	184	c.166 others(201): Show c.1663-523_1663-522insGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290063	T T	TCTGCTCC others(177): Show TCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCC TGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	290	0.0035	184	c.166 others(201): Show c.1663-196_1663-195insCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTC CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTC CGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCUBE1_chr22_43192280_43348372	43192596	A A	ATATATAT others(177): Show ATATATATATACGTGTATATATATATACGTATATATATATATACGTATAT ATATATATACGTGTATATATATATATACGTATATATATATACGTGTATAT ATATATATACGTATATATATATATACGTGTATATATATATATATACGTGT ATATATATATACGTGTATATATATATATATACGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0007 a0006c0015t0007	a0006c0015t0007g0066 a0006c0015t0007g0066	1	280	0.0036	184	c.11 others(197): Show c.11400_*11401insCACGTATATATATATATATACACGTATATATA TATACACGTATATATATATATATACACGTATATATATATATACGTATATA TATATATACACGTATATATATATACGTATATATATATATACACGTATATA TATATATACGTATATATATATATACGTATATATATATACACGTATATATA TA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding		4683		chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43192596	A A	ATATATAT others(177): Show ATATATATATACGTGTATATATATATACGTATATATATATATACGTGTAT ATATATATACGTGTATATATATATATACGTATATATATATATACGTGTAT ATATATATATACGTATATATATATACGTGTATATATATATATACGTATAT ATATATATACGTGTATATATATATATATATACGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0025 a0002c0009t0025	a0002c0009t0025g0070 a0002c0009t0025g0070	1	280	0.0036	184	c.11 others(197): Show c.11400_*11401insCACGTATATATATATATATATACACGTATATA TATATATACGTATATATATATATACACGTATATATATATACGTATATATA TATATACACGTATATATATATATACGTATATATATATATACACGTATATA TATATACACGTATATATATATATACGTATATATATATACACGTATATATA TA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding		4683		chr22	TogoVar
SEL1L2_chr20_13844247_13995614	13934476	C C	CATATATA others(177): Show CATATATATATATTCCATATATATATATTCCATATATATATTCCATATAT ATTCCATATATATATTCCATATATATATTCCATATATATATATATTCCAT ATATATATTCCATATATATATATATTCCATATATATATTCCATATATATA TTCCATATATATATATATTCCATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0275 a0002c0002t0003g0275	1	324	0.0031	184	c.115 others(201): Show c.115-2706_115-2705insATATATATATATATGGAATATATATATA TATGGAATATATATATGGAATATATATATGGAATATATATATATATGGAA TATATATATGGAATATATATATATATGGAATATATATATGGAATATATAT ATGGAATATATATGGAATATATATATGGAATATATATATATGGAATATAT ATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SGCZ_chr8_14079845_15243431	15012554	A A	ATATATAA others(177): Show ATATATAACATATAAATATATATTTATATAACATATAAATATATATTTAT ATAACATATAAATATATATTTATATAACATATAAATATATATTTATATAA CATATAAATATATATTTATATAACATATAAATATATATTTATATAACATA TAAATATATATTTATATAACATATAAATATATATT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02922.hp1 HG02922.hp2 others(3): Show HG02132.hp2 HG02922.hp1 HG02922.hp2 HG03195.hp1 HG04204.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0026 a0001c0001t0058 a0001c0001t0063 others(3): Show a0001c0001t0026 a0001c0001t0058 a0001c0001t0063 a0001c0001t0070 a0001c0001t0087 a0002c0002t0007	a0001c0001t0026g0035 a0001c0001t0058g0097 a0001c0001t0063g0094 others(3): Show a0001c0001t0026g0035 a0001c0001t0058g0097 a0001c0001t0063g0094 a0001c0001t0070g0081 a0001c0001t0087g0088 a0002c0002t0007g0070	6	102	0.0588	184	c.39+ others(203): Show c.39+225030_39+225031insAATATATATTTATATGTTATATAAAT ATATATTTATATGTTATATAAATATATATTTATATGTTATATAAATATAT ATTTATATGTTATATAAATATATATTTATATGTTATATAAATATATATTT ATATGTTATATAAATATATATTTATATGTTATATAAATATATATTTATAT GTTATATA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(177): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTT CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0043 a0001c0001t0050g0043	1	214	0.0047	184	c.691 others(203): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCC CTTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTTCCCTTCCCT TCCCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(177): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCC CCCTCCCCCTCCCCCTCCCCCTCCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	214	0.0047	184	c.691 others(203): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCTTCCCTTCCCTTCCCT TCCCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SIGIRR_chr11_400716_419999	401629	G G	GACCCGCT others(177): Show GACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCC CGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTC ACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACA CCCGGCCCCGCTCACACCCGGCCCCGCTCACACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG02293.hp1 NA18971.hp1 HG00558.hp1 HG02293.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0179 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0179	3	242	0.0124	184	c.42 others(195): Show c.4266_*4267insGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGG GTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCCGGGGG TGAGCGGGGCGGGTGTGAGCGGGCCGGGGGTGAGCGGGGCGGGTGTGAGC GGGGCGGGTGTGAGCGGGGCCGGGGTGAGCGGGGCCGGGGGTGAGCGGGT	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4086		chr11	TogoVar
SIGIRR_chr11_400716_419999	402351	G G	GCCCCGCT others(177): Show GCCCCGCTCACCCCCGACCCGCTCACACCCGGCCCCGCTCACCCCGGCCC CGCTCACACCCGCCCCGCTCACCCCGGACCCCGCTCACCCCCGACCCGCT CACCCCGGCCCCGCTCACCCCAGCCCCGCTCACACCCGCCCCGCTCACCC GGGACCCCGCTCACACCCGCCCCGCTCACCCCGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	242	0.0041	184	c.35 others(195): Show c.3544_*3545insTCCGGGGTGAGCGGGGCGGGTGTGAGCGGGGTCC CGGGTGAGCGGGGCGGGTGTGAGCGGGGCTGGGGTGAGCGGGGCCGGGGT GAGCGGGTCGGGGGTGAGCGGGGTCCGGGGTGAGCGGGGCGGGTGTGAGC GGGGCCGGGGTGAGCGGGGCCGGGTGTGAGCGGGTCGGGGGTGAGCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3364		chr11	TogoVar
SIMC1_chr5_176233424_176350989	176305356	G G	GAGGGAGG others(177): Show GAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCCCGTCTGGG AGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03017.hp1 HG01081.hp2 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0026 a0001c0001t0001g0005 a0001c0001t0001g0026	2	360	0.0056	184	c.173 others(203): Show c.1735-8335_1735-8334insAGGGAGGTGGGGGGGTCAGCCCTCCG CCCGGCCAACCCCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGT	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9			chr5	TogoVar
SLC12A1_chr15_48201302_48309078	48270750	G G	GTATATAT others(177): Show GTATATATATATATATATATACTCTAAGTATTATATATTATATACTCCAA AACTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATATAT ATACACACACATATATATACATACACATATATATATACACACACACACAG AGTTTTGGAGTATATAATATATAATACTTAGAGTA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	266	0.0038	184	c.240 others(203): Show c.2402+1006_2402+1007insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATA TATATACACACACATATATATACATACACATATATATATACACACACACA CAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATATATATATA TATATATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A1_chr15_48201302_48309078	48270760	A A	ATATATAT others(177): Show ATATATATATATATATACTCTAAGTATTATATATTATATACTCCAAAACT GTGTGTGTGTGTATATATATATATATATATATATATATATATATATATAT ATTTATACACACATATATATACATACACATATATATATACACACACACAC AGAGTTTTGGAGTATATAATATATAATACTTAGAG	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0227 a0002c0003t0003g0227	1	266	0.0038	184	c.240 others(203): Show c.2402+1012_2402+1013insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTATATATATATATATATATATATATATATATA TATATATATTTATACACACATATATATACATACACATATATATATACACA CACACACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATATA TATATATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A1_chr15_48201302_48309078	48270766	A A	ATATATAT others(177): Show ATATATATACTCTAAGTATTATATATTATATACTCCAAAACTGTGTGTGT GTGTGTGTGTATATATATATATATATATATATATATATATATATATATAT ATTTATACACACATATATATACATACACATATATATATACACACACACAC AGAGTTTTGGAGTATATAATATATAATACTTAGAG	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0002 a0009c0014t0002	a0009c0014t0002g0206 a0009c0014t0002g0206	1	266	0.0038	184	c.240 others(203): Show c.2402+1010_2402+1011insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTGTGTGTATATATATATATATATATATATATA TATATATATATATATATTTATACACACATATATATACATACACATATATA TATACACACACACACAGAGTTTTGGAGTATATAATATATAATACTTAGAG TATATATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A1_chr15_48201302_48309078	48270766	A A	ATATATAT others(177): Show ATATATATATACTCTAAGTATTATATATTATATACTCCAAAACTGTGTGT GTGTGTGTGTATATATATATATATATATATATATATATATATATATATAT ATTTATACACACATATATATACATACACATATATATATACACACACACAC AGAGTTTTGGAGTATATAATATATAATACTTAGAG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0265 a0001c0001t0006g0265	1	266	0.0038	184	c.240 others(203): Show c.2402+1012_2402+1013insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTGTGTATATATATATATATATATATATATATA TATATATATATATATTTATACACACATATATATACATACACATATATATA TACACACACACACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTA TATATATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A1_chr15_48201302_48309078	48270766	A A	ATATATAT others(177): Show ATATATATATACTCTAAGTATTATATATTATATACTCCAAAACTGTGTGT GTGTGTGTGTGTATATATATATATATATATATATATATATATATATATAT ATTTATACACACATATATATACATACACATATATATATACACACACACAC AGAGTTTTGGAGTATATAATATATAATACTTAGAG	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0224 a0001c0001t0002g0224	1	266	0.0038	184	c.240 others(203): Show c.2402+1012_2402+1013insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTGTGTGTATATATATATATATATATATATATA TATATATATATATATTTATACACACATATATATACATACACATATATATA TACACACACACACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTA TATATATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC17A5_chr6_73588379_73658992	73601358	T T	TCCGGGAG others(177): Show TCCGGGAGGGAGGTGGGGGGGTCAGCCCCGCGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGTCAGCACCCCGCCTGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCACCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01496.hp2 HG00099.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0220 a0001c0001t0001g0195 a0001c0001t0001g0220	2	324	0.0062	184	c.126 others(201): Show c.1260-918_1260-917insTAGGGGCGGCTGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGTGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCAGGCGGGGTGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGCGGGGCTGACCCCCCCACCTCCC TCCCGG	SLC17A5	ENSG00000119899.13	transcript	ENST00000355773.6	protein_coding	9/10			chr6	TogoVar
SLC18B1_chr6_132764370_132803637	132792291	G G	GAAAGAAA others(177): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAGGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGGAAG AAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0002 a0004c0007t0002	a0004c0007t0002g0059 a0004c0007t0002g0059	1	304	0.0033	184	c.184 others(201): Show c.184-2020_184-2019insTTTCTTTCTTCCTTCCTTCCTTCCTTCC TTCCTTTCTTCCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCCTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT	SLC18B1	ENSG00000146409.12	transcript	ENST00000275227.9	protein_coding	2/13			chr6	TogoVar
SLC25A16_chr10_68472998_68532523	68529654	T T	TATATATG others(177): Show TATATATGTATATATTATATATGCATATATGTATATATTATATATGCATA TATGTATATATTATATATGCATATATGTATATATTATATATGCATATATG TATATATTATATATGCATATATGTATATATTATATATGCATATATGTATA TATTATATATGCATATATGTATATATTATATATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01433.hp1 HG02965.hp1 others(3): Show HG01109.hp1 HG01433.hp1 HG02965.hp1 HG03098.hp2 HG03209.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0060 a0001c0001t0061 a0001c0001t0007 a0001c0001t0060 a0001c0001t0061	a0001c0001t0007g0012 a0001c0001t0007g0017 a0001c0001t0007g0018 others(3): Show a0001c0001t0007g0012 a0001c0001t0007g0017 a0001c0001t0007g0018 a0001c0001t0007g0019 a0001c0001t0060g0015 a0001c0001t0061g0014	6	312	0.0192	184	c.-22 others(195): Show c.-2280_-2279insGCATATATAATATATACATATATGCATATATAAT ATATACATATATGCATATATAATATATACATATATGCATATATAATATAT ACATATATGCATATATAATATATACATATATGCATATATAATATATACAT ATATGCATATATAATATATACATATATGCATATATAATATATACATATAT	SLC25A16	ENSG00000122912.15	transcript	ENST00000609923.6	protein_coding		2132		chr10	TogoVar
SLC25A16_chr10_68472998_68532523	68529699	A A	ACATATAT others(177): Show ACATATATGTATATATTATATATGCATATATGTATATATTATATATGCAT ATATGTATATATTATATATGCATATATGTATATATTATATAGGCATATAT GTATATATTATATGTGCATATATGTATATATTATATGTGCATATATGTAT ATATTATATGTGCATATATGTATATATTATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01257.hp1 HG01258.hp1 others(4): Show HG00639.hp1 HG01257.hp1 HG01258.hp1 HG01433.hp2 HG01496.hp1 HG02683.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0048 a0001c0001t0001 a0001c0001t0009 a0001c0001t0048	a0001c0001t0001g0295 a0001c0001t0009g0010 a0001c0001t0009g0292 others(3): Show a0001c0001t0001g0295 a0001c0001t0009g0010 a0001c0001t0009g0292 a0001c0001t0009g0297 a0001c0001t0009g0298 a0001c0001t0048g0296	7	312	0.0224	184	c.-23 others(195): Show c.-2325_-2324insCATATATAATATATACATATATGCACATATAATA TATACATATATGCACATATAATATATACATATATGCACATATAATATATA CATATATGCCTATATAATATATACATATATGCATATATAATATATACATA TATGCATATATAATATATACATATATGCATATATAATATATACATATATG	SLC25A16	ENSG00000122912.15	transcript	ENST00000609923.6	protein_coding		2177		chr10	TogoVar
SLC25A16_chr10_68472998_68532523	68529699	A A	ACATATAT others(177): Show ACATATATGTATATATTATATATGCATATATGTATATATTATATATGCAT ATATGTATATATTATATATGCATATATGTATATATTATATATGCATATAT GTATATATTATATGTGCATATATGTATATATTATATGTGCATATATGTAT ATATTATATGTGCATATATGTATATATTATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG01934.hp1 NA18612.hp1 HG00642.hp2 HG01934.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0034 a0001c0001t0014 a0001c0001t0034	a0001c0001t0014g0293 a0001c0001t0014g0299 a0001c0001t0034g0291 a0001c0001t0014g0293 a0001c0001t0014g0299 a0001c0001t0034g0291	3	312	0.0096	184	c.-23 others(195): Show c.-2325_-2324insCATATATAATATATACATATATGCACATATAATA TATACATATATGCACATATAATATATACATATATGCACATATAATATATA CATATATGCATATATAATATATACATATATGCATATATAATATATACATA TATGCATATATAATATATACATATATGCATATATAATATATACATATATG	SLC25A16	ENSG00000122912.15	transcript	ENST00000609923.6	protein_coding		2177		chr10	TogoVar
SLC25A46_chr5_110734007_110770157	110750213	T T	TAGAAAGG others(177): Show TAGAAAGGTCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGGAAGCAGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCA GTCCGCAGTCCCACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03225.hp1 HG03516.hp1 HG01891.hp1 HG03225.hp1 HG03516.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0003c0006 a0002c0003 a0003c0006	a0002c0003t0006 a0003c0006t0006 a0002c0003t0006 a0003c0006t0006	a0002c0003t0006g0141 a0003c0006t0006g0046 a0002c0003t0006g0141 a0003c0006t0006g0046	3	386	0.0078	184	c.563 others(201): Show c.563+1959_563+1960insTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCAGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCCACCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGA AAGGTC	SLC25A46	ENSG00000164209.17	transcript	ENST00000355943.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC5A4_chr22_32213464_32260347	32213700	G G	GTATATAT others(177): Show GTATATATCTATATATGTATACATATATATCTATACATATATATGGATAT ATATCTATATATGTATACATATATATCTATACATATATATGGATATATAT CTATATATGTATACATATATATCTATACATATATATGGATATATATCTAT ATATGTATACATATATATCTATACATATATATGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0006 a0001c0003t0001g0006	1	302	0.0033	184	c.48 others(195): Show c.4813_*4814insTCCATATATATGTATAGATATATATGTATACATA TATAGATATATATCCATATATATGTATAGATATATATGTATACATATATA GATATATATCCATATATATGTATAGATATATATGTATACATATATAGATA TATATCCATATATATGTATAGATATATATGTATACATATATAGATATATA	SLC5A4	ENSG00000100191.6	transcript	ENST00000266086.6	protein_coding		4763		chr22	TogoVar
SLC66A2_chr18_79897420_79956653	79921564	G G	GAGGAGAG others(177): Show GAGGAGAGACGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACGGA ACCGAGGGAGAGGTCAGGGTCAGTGAGGAGAGACGGAACCGAGGGAGAGG TCAAGGTCAGTGAGGAGAGACGGAACCGAGGGAGAGGTCAAGGTCAGTGA GGAGAGACGGAACCGAGGGAGAGGTCAAGGTCAGT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0044 a0001c0001t0033g0044	1	352	0.0028	184	c.392 others(201): Show c.392-2165_392-2164insACTGACCTTGACCTCTCCCTCGGTTCCG TCTCTCCTCACTGACCTTGACCTCTCCCTCGGTTCCGTCTCTCCTCACTG ACCTTGACCTCTCCCTCGGTTCCGTCTCTCCTCACTGACCCTGACCTCTC CCTCGGTTCCGTCTCTCCTCACTGACCTTGACCTCTCCCTCGGTTCCGTC TCTCCT	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC6A3_chr5_1387794_1450440	1422486	A A	ACGGTGCT others(177): Show ACGGTGCTGCCCAAGGTGCTGGGTACCCACCGCTGCCCAGTGCTGCCCAC GCTGCTGGGTACCCACCGCTGCCCAGTGCTGCCCACGGTGCTGGGTGCCC ACCGCTGCCCACGGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCAC AGTGCTGCCCACGCTGCTGGGTACCCACCGCTGCC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0196 a0001c0003t0002g0196	1	373	0.0027	184	c.654 others(199): Show c.654-473_654-472insGGCAGCGGTGGGTACCCAGCAGCGTGGGCA GCACTGTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACCGTGGGCA GCGGTGGGCACCCAGCACCGTGGGCAGCACTGGGCAGCGGTGGGTACCCA GCAGCGTGGGCAGCACTGGGCAGCGGTGGGTACCCAGCACCTTGGGCAGC ACCG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14			chr5	TogoVar
SLC8A1_chr2_40092270_40457090	40200222	T T	TTATATAT others(177): Show TTATATATATATATAAATATATATATATATTTATATATATATATAAATAT ATATATATATTTATATATATATATAAATATATATATATTTATATATATAT ATAAATATATATATATTTATATATATATATAAATATATATATATTTATAT ATATATAAATATATATATATATTTATATATATAAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01099.hp2 HG01074.hp1 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0160 a0001c0001t0007g0161 a0001c0001t0007g0160 a0001c0001t0007g0161	2	236	0.0085	184	c.180 others(205): Show c.1809-21730_1809-21729insTTTATATATATAAATATATATATA TATTTATATATATATAAATATATATATATTTATATATATATATAAATATA TATATATTTATATATATATATAAATATATATATATTTATATATATATATA AATATATATATATATTTATATATATATATAAATATATATATATATTTATA TATATATATA	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC8A1_chr2_40092270_40457090	40200241	T T	TATATATA others(177): Show TATATATATATTTATATATATATATAAATATATATATATTTATATATATA TATAAATATATATATATTTATATATATATATAAATATATATATATTTATA TATATATATAAATATATATATATTTATATATATATATAAATATATATATA TATTTATATATATAAATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0189 a0001c0001t0189	a0001c0001t0189g0118 a0001c0001t0189g0118	1	236	0.0042	184	c.180 others(205): Show c.1809-21749_1809-21748insTTATATATATATATATATATTTAT ATATATAAATATATATATATATTTATATATATATATAAATATATATATAT TTATATATATATATAAATATATATATATTTATATATATATATAAATATAT ATATATTTATATATATATATAAATATATATATATTTATATATATATATAA ATATATATAT	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC9A3_chr5_465456_529449	507670	A A	ACAGACGC others(177): Show ACAGACGCCCGAATCCTCACCCTGCAGACGCCCGAATCCCCACCCCACAG ACGCCCGAATCCCCACCCCACAGACGCCCGAATCCCCACCCCACAGACGC CCGAATCCCCACCCCGCAGACGCCCGAATCCTCACCCCGCAGACGCCCGA ATCCCCACCCCGCAGACGCCCGAATCCCCACCCCG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0013 a0005c0012t0013	a0005c0012t0013g0132 a0005c0012t0013g0132	1	218	0.0046	184	c.212 others(203): Show c.212-15600_212-15599insCGGGGTGGGGATTCGGGCGTCTGCGG GGTGGGGATTCGGGCGTCTGCGGGGTGAGGATTCGGGCGTCTGCGGGGTG GGGATTCGGGCGTCTGTGGGGTGGGGATTCGGGCGTCTGTGGGGTGGGGA TTCGGGCGTCTGTGGGGTGGGGATTCGGGCGTCTGCAGGGTGAGGATTCG GGCGTCTG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A3_chr5_465456_529449	507670	A A	ACAGACGC others(177): Show ACAGACGCCCGAATCCTCACCCTGCAGACGCCCGAATCCCCACCCCACAG ACGCCCGAATCCCCACCCCACAGACGCCCGAATCCCCACCCCGCAGACGC CCGAATCCCCACCCCGCAGACGCCCGAATCCTCACCCCGCAGACGCCCGA ATCCCCACCCCGCAGACGCCCGAATCCCCACCCCG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0003 a0001c0001t0017g0003	1	218	0.0046	184	c.212 others(203): Show c.212-15600_212-15599insCGGGGTGGGGATTCGGGCGTCTGCGG GGTGGGGATTCGGGCGTCTGCGGGGTGAGGATTCGGGCGTCTGCGGGGTG GGGATTCGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTGTGGGGTGGGGA TTCGGGCGTCTGTGGGGTGGGGATTCGGGCGTCTGCAGGGTGAGGATTCG GGCGTCTG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A8_chr20_49807828_49897242	49834371	A A	ATATATAT others(177): Show ATATATATACAGTATATATATATACACAGTATATATATATACAGTATATA TATATACACAGTATATATATATATATACACACTGTATATATAGTGTGTGT ATATACATATACTGTGTGTATATATAGTGCATATAGTGCGTATATACAGT GTGTGTATATACATAGTGTGTGTGTATATATACAG	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA19002.hp1 NA18963.hp2 NA19002.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0344 a0001c0002t0001g0350 a0001c0002t0001g0344 a0001c0002t0001g0350	2	360	0.0056	184	c.290 others(201): Show c.290-5162_290-5161insCAGTATATATATATACACAGTATATATA TATACAGTATATATATATACACAGTATATATATATATATACACACTGTAT ATATAGTGTGTGTATATACATATACTGTGTGTATATATAGTGCATATAGT GCGTATATACAGTGTGTGTATATACATAGTGTGTGTGTATATATACAGTA TATATA	SLC9A8	ENSG00000197818.12	transcript	ENST00000361573.3	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLCO3A1_chr15_91848708_92170903	92047072	A A	AATATATA others(177): Show AATATATATATAATATATAAATATATATATATAAATATATATAATATATA AATATATATATATAAATATATAATATATAAATATATATACAAATATATAT ATAATATATAAATATATACAAATATATATATAATATATAAATATATATAC AAATATATATATAATATATAAATATATATACAAAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0155 a0002c0003t0009g0155	1	190	0.0053	184	c.647 others(203): Show c.647-47800_647-47799insTAATATATAAATATATATATATAAAT ATATATAATATATAAATATATATATATAAATATATAATATATAAATATAT ATACAAATATATATATAATATATAAATATATACAAATATATATATAATAT ATAAATATATATACAAATATATATATAATATATAAATATATATACAAATA TATATATA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMIM14_chr4_39541336_39643865	39562810	A A	ATTTTTGT others(177): Show ATTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0237 a0001c0001t0030g0237	1	344	0.0029	184	c.125 others(201): Show c.125-6241_125-6240insATTAGCCGGGCGTAGTGGCGGGCGCCTG TAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGG AGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAATA CAAAAA	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	3/4			chr4	TogoVar
SNTG2_chr2_945849_1372613	1222051	C C	CTGTCTCT others(177): Show CTGTCTCTGCCTCTCTCTGTCTCTGTCTGTGTCTCTCTCTGTCTCTGTCT CTGTCTCTGTCTCTGCCTCTCTCTGTCTCTCTCTGTCTCTGCCTATCTCT GTCTCTGTCTCTGTCTCTGTCTCTGCCTCTCTCTGTCTCTGTCTCTGTCT CTCTCTGTCTCTCTGTCTCTCTCTGTCTCTCTCTG	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0126 a0001c0002t0001g0126	1	190	0.0053	184	c.719 others(203): Show c.719+12822_719+12823insGTCTCTGCCTCTCTCTGTCTCTGTCT GTGTCTCTCTCTGTCTCTGTCTCTGTCTCTGTCTCTGCCTCTCTCTGTCT CTCTCTGTCTCTGCCTATCTCTGTCTCTGTCTCTGTCTCTGTCTCTGCCT CTCTCTGTCTCTGTCTCTGTCTCTCTCTGTCTCTCTGTCTCTCTCTGTCT CTCTCTGT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1222117	C C	CTCTGCCT others(177): Show CTCTGCCTATCTCTGTCTCTGTTTCTCTCTGTCTCTGTCTCTGTCTCTCT CTGTCTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTGTCTCTGTCTCTCT CTGTCTCTGTCTCTGTCTCTGTCTCTGTCTCTGTCTCTCTCTGTCTCTCT CTGTCTCTCTCTGTCTCTGTCTCTGTCTCTCTCTG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0172 a0001c0002t0001g0172	1	190	0.0053	184	c.719 others(203): Show c.719+12890_719+12891insGCCTATCTCTGTCTCTGTTTCTCTCT GTCTCTGTCTCTGTCTCTCTCTGTCTCTCTGTCTCTCTCTGTCTCTCTCT GTCTCTGTCTCTGTCTCTCTCTGTCTCTGTCTCTGTCTCTGTCTCTGTCT CTGTCTCTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTGTCTCTGTCTCT CTCTGTCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX6_chr14_34556093_34635148	34557555	T T	TCTTCTTC others(177): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TTCTTCTTCTTCTTCTTCTTCTTCTTTTCTTCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0232 a0001c0001t0003g0232	1	322	0.0031	184	c.55 others(195): Show c.5566_*5567insGAAGAAGAAAAGAAGAAGAAGAAGAAGAAGAAGA AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	SNX6	ENSG00000129515.20	transcript	ENST00000362031.10	protein_coding		3537		chr14	TogoVar
SOAT1_chr1_179288797_179363680	179353211	A A	ATATATAT others(177): Show ATATATATAAATATATATATATTTATATATATAAATATATATATATAAAT ATATATATATTTATATATATAAATATATATATATAAATATATATATATTT ATATATATAAATATATATATATAAATATATATATATTTATATATATAAAT ATATATATATTTATATATATAAATATATATATATT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0226 a0001c0002t0001g0226	1	382	0.0026	184	c.159 others(201): Show c.1597-366_1597-365insAATATATATATATTTATATATATAAATA TATATATATAAATATATATATATTTATATATATAAATATATATATATAAA TATATATATATTTATATATATAAATATATATATATAAATATATATATATT TATATATATAAATATATATATATTTATATATATAAATATATATATATTTA TATATA	SOAT1	ENSG00000057252.13	transcript	ENST00000367619.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SOAT1_chr1_179288797_179363680	179353211	A A	ATATATAT others(177): Show ATATATATATAAATATATATATATTTATATATATAAATATATATATATAA ATATATATATATTTATATATAAATATATATATATAAATATATATATATTT ATATATATAAATATATATATATAAATATATATATATTTATATATATAAAT ATATATATATTTATATATATAAATATATATATATT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0239 a0001c0002t0024g0239	1	382	0.0026	184	c.159 others(201): Show c.1597-364_1597-363insAATATATATATATTTATATATATAAATA TATATATATAAATATATATATATTTATATATAAATATATATATATAAATA TATATATATTTATATATATAAATATATATATATAAATATATATATATTTA TATATATAAATATATATATATTTATATATATAAATATATATATATTTATA TATATA	SOAT1	ENSG00000057252.13	transcript	ENST00000367619.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SOAT1_chr1_179288797_179363680	179353211	A A	ATATATAT others(177): Show ATATATATATAAATATATATATATTTATATATATAAATATATATATATAA ATATATATATATTTATATATATAAATATATATATATAAATATATATATAT TTATATATATAAATATATATATAAATATATATATATTTATATATATAAAT ATATATATATTTATATATATAAATATATATATATT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0191 a0001c0002t0001g0191	1	382	0.0026	184	c.159 others(201): Show c.1597-364_1597-363insAATATATATATATTTATATATATAAATA TATATATATAAATATATATATATTTATATATATAAATATATATATATAAA TATATATATATTTATATATATAAATATATATATAAATATATATATATTTA TATATATAAATATATATATATTTATATATATAAATATATATATATTTATA TATATA	SOAT1	ENSG00000057252.13	transcript	ENST00000367619.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SORCS2_chr4_7187538_7747827	7448830	T T	TCTCTTTT others(177): Show TCTCTTTTCCCTCTCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTCCCTTCCTCTCTTTTCCCTCTCTCCCTCCCTTCCTCCCTC CCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTTTTCCCTCTCTCC CTCCCTTCCTGTCTTTTCCCTCTCTCCCTCCCTTC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02647.hp1 HG03225.hp1 others(1): Show HG02280.hp1 HG02647.hp1 HG03225.hp1 NA18906.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0005 a0001c0010 others(1): Show a0001c0001 a0001c0005 a0001c0010 a0004c0044	a0001c0001t0013 a0001c0005t0019 a0001c0010t0076 others(1): Show a0001c0001t0013 a0001c0005t0019 a0001c0010t0076 a0004c0044t0046	a0001c0001t0013g0125 a0001c0005t0019g0104 a0001c0010t0076g0163 others(1): Show a0001c0001t0013g0125 a0001c0005t0019g0104 a0001c0010t0076g0163 a0004c0044t0046g0016	4	168	0.0238	184	c.548 others(203): Show c.548+52490_548+52491insCCCTCCCTTCCTCCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTCCCTTCCTCTCTTTTCCCTCTCTCCCTCCCTT CCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTTTTCC CTCTCTCCCTCCCTTCCTGTCTTTTCCCTCTCTCCCTCCCTTCCTCTTTT CCCTCTCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7449217	T T	TCCTCCCT others(177): Show TCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTCCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0156 a0001c0005t0001g0156	1	168	0.0060	184	c.548 others(203): Show c.548+52881_548+52882insTCCTCCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTCCCT CCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT CCCTCCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7449229	C C	CCCTCCCT others(177): Show CCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCT CCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCC CTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0111 a0001c0001t0006g0111	1	168	0.0060	184	c.548 others(203): Show c.548+52893_548+52894insTCCTCCCTCTCTTCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTC CTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCT CCCTCCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(177): Show CCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCTCC TCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTC CTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	418	0.0024	184	c.54 others(195): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(177): Show CCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCTCC TCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTC CTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	184	c.54 others(195): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(177): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCTCC TCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTC CTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	184	c.54 others(195): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(177): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCTCC TCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTC CTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp1 NA19000.hp1 NA19067.hp1 others(2): Show NA18945.hp1 NA19000.hp1 NA19067.hp1 NA19080.hp2 NA19090.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0019 a0001c0001t0001 a0003c0003t0019	a0001c0001t0001g0001 a0001c0001t0001g0003 a0003c0003t0019g0041 a0001c0001t0001g0001 a0001c0001t0001g0003 a0003c0003t0019g0041	5	418	0.0120	184	c.54 others(195): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(177): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCTCC TCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTC CTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp2 NA18973.hp1 NA18968.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	418	0.0048	184	c.54 others(195): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(177): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCTCC TCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTC CTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	418	0.0024	184	c.54 others(195): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(177): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCC TCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTC CTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	418	0.0024	184	c.54 others(195): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPNS3_chr17_4428940_4493204	4462578	C C	CACCAGTC others(177): Show CACCAGTCTATCAATCCATCTATCCATCCATCCACCAATCCATCCATCCA TCCATCCATCCACCCATCCACCAATCCATCCATCCACCAATCCATCCATC TACCCACCCACCAATCCATCCATCCATCCATCCATCCACCCACCCACCCA CCCACCCACCCACCCACCCATTCATCCACCAATCT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02615.hp1 HG02630.hp2 others(3): Show HG02258.hp2 HG02615.hp1 HG02630.hp2 HG06807.hp1 NA18522.hp1 NA19030.hp2	a0001 a0007 a0001 a0007	a0001c0012 a0001c0049 a0007c0025 a0001c0012 a0001c0049 a0007c0025	a0001c0012t0001 a0001c0012t0002 a0001c0049t0002 others(1): Show a0001c0012t0001 a0001c0012t0002 a0001c0049t0002 a0007c0025t0002	a0001c0012t0001g0045 a0001c0012t0001g0046 a0001c0012t0001g0048 others(3): Show a0001c0012t0001g0045 a0001c0012t0001g0046 a0001c0012t0001g0048 a0001c0012t0002g0051 a0001c0049t0002g0321 a0007c0025t0002g0049	6	362	0.0166	184	c.111 others(203): Show c.1113+9374_1113+9375insCCAGTCTATCAATCCATCTATCCATC CATCCACCAATCCATCCATCCATCCATCCATCCACCCATCCACCAATCCA TCCATCCACCAATCCATCCATCTACCCACCCACCAATCCATCCATCCATC CATCCATCCACCCACCCACCCACCCACCCACCCACCCACCCATTCATCCA CCAATCTA	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPTLC2_chr14_77500997_77621637	77569852	A A	AAAATATT others(177): Show AAAATATTAATATTTTATATATATTATAAATATATAATATTATATATTTT TATTATATTAATTAATATTATATATTAATTAATTAATTAATTAATATTAT ATATAATATTATATATAATATTAATTAATTAATTAATTAATATTATATAT AATATTATATATAAAATATAAAAATAAAATAATAT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0086 a0001c0001t0009g0086	1	246	0.0041	184	c.756 others(199): Show c.756+531_756+532insATATTATTTTATTTTTATATTTTATATATA ATATTATATATAATATTAATTAATTAATTAATTAATATTATATATAATAT TATATATAATATTAATTAATTAATTAATTAATATATAATATTAATTAATA TAATAAAAATATATAATATTATATATTTATAATATATATAAAATATTAAT ATTT	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	5/11			chr14	TogoVar

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