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
RBCK1_chr20_403299_437139	420665	G G	GCCCACCC others(199): Show GCCCACCCCATCCCCCGTCCCCATCCCCCATCCCCCGTCCCCCGTCCCCA TCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCATCCCCCGTCCCCCGTC CCCCATCCCATCCCCCACCCCCATCCCCCGTCCCCCGTCCCCATCCCCCA TCCCCCATCCCCCATCCCCCGTCCGCCGTCCCCCATCCCCCGTCCCCATC CCCCACC	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18982.hp1 NA19012.hp1 NA18939.hp2 NA18982.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0040 a0001c0001t0003g0315 a0001c0001t0003g0040 a0001c0001t0003g0315	3	64	0.0469	206	c.757 others(221): Show c.757-202_757-201insCCCCATCCCCCGTCCCCATCCCCCATCCCC CGTCCCCCGTCCCCATCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCAT CCCCCGTCCCCCGTCCCCCATCCCATCCCCCACCCCCATCCCCCGTCCCC CGTCCCCATCCCCCATCCCCCATCCCCCATCCCCCGTCCGCCGTCCCCCA TCCCCCGTCCCCATCCCCCACCCCCA	RBCK1	ENSG00000125826.22	transcript	ENST00000356286.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
RBCK1_chr20_403299_437139	420671	C C	CCCATCCC others(199): Show CCCATCCCCCGTCCCCATCCCCCATCCCCCGTCCCCCGTCCCCATCCCCC GTCCCCCATCTCCTGTCCCCCGTCCCCATCCCCCGTCCCCCGTCCCCCAT CCCATCCCCCACCCCCATCCCCCGTCCCCCGTCCCCATCCCCCATCCCCC ATCCCCATCCCCCGTCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCCAT CCCCCGT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0189 a0001c0001t0003g0189	1	408	0.0025	206	c.757 others(221): Show c.757-198_757-197insATCCCCCGTCCCCATCCCCCATCCCCCGTC CCCCGTCCCCATCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCATCCCC CGTCCCCCGTCCCCCATCCCATCCCCCACCCCCATCCCCCGTCCCCCGTC CCCATCCCCCATCCCCCATCCCCATCCCCCGTCCCCCGTCCCCCATCTCC TGTCCCCCGTCCCCCATCCCCCGTCC	RBCK1	ENSG00000125826.22	transcript	ENST00000356286.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
RCHY1_chr4_75474033_75519403	75487667	C C	CATATATA others(199): Show CATATATATATTCATAATATATATATTCATATATATATTCATAATATATA TTCATATATATATATTCATAATATATATTCATATATATATTCATAATATA TATTCATATATATATTCATAATATATATTCATATATATATTCATAATATA TATTCATATATATATTCATAATATATATTCATATATATATTCATAATATA TATTCAT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18995.hp2 NA18984.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0098 a0001c0001t0003g0141 a0001c0001t0003g0098 a0001c0001t0003g0141	2	130	0.0154	206	c.657 others(223): Show c.657+2913_657+2914insATGAATATATATTATGAATATATATATG AATATATATTATGAATATATATATGAATATATATTATGAATATATATATG AATATATATTATGAATATATATATGAATATATATTATGAATATATATATG AATATATATTATGAATATATATATATGAATATATATTATGAATATATATA TGAATATATATATTATGAATATATATAT	RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	8/8			chr4	TogoVar
RIOK2_chr5_97155867_97188247	97179991	A A	ATATATAT others(199): Show ATATATATATAATATATATATATAATATATATATAATATATATAATATAT ATATATTATATATATAGAAAATATATATATAATATATATATATAATATAT ATATAATATATATAATATATATATATAAAATATATATATATAATATATAT ATAATATATATATAATATATATATAATATATATATAATATATATATAATA TATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA19030.hp1 HG02572.hp2 NA19030.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0011 a0006c0009t0011	a0006c0009t0011g0050 a0006c0009t0011g0052 a0006c0009t0011g0050 a0006c0009t0011g0052	2	363	0.0055	206	c.67- others(219): Show c.67-799_67-798insATATATATATTATATATATATTATATATATAT TATATATATATTATATATATATTATATATATATTATATATATATATTTTA TATATATATATTATATATATTATATATATATTATATATATATATTATATA TATATTTTCTATATATATAATATATATATATTATATATATTATATATATA TTATATATATATATTATATATATA	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RIOK2_chr5_97155867_97188247	97179991	A A	ATATATAT others(199): Show ATATATATATAATATATATATATTATATATATATAATATATATAATATAT ATATATTATATATATAGAAAATATATATATAATATATATATATAATATAT ATATAATATATATAATATATATATATAAAATATATATATATAATATATAT ATAATATATATATAATATATATATAATATATATATAATATATATATAATA TATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0011 a0006c0009t0011	a0006c0009t0011g0050 a0006c0009t0011g0050	1	362	0.0028	206	c.67- others(219): Show c.67-799_67-798insATATATATATTATATATATATTATATATATAT TATATATATATTATATATATATTATATATATATTATATATATATATTTTA TATATATATATTATATATATTATATATATATTATATATATATATTATATA TATATTTTCTATATATATAATATATATATATTATATATATTATATATATA TAATATATATATATTATATATATA	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RIPK4_chr21_41734373_41772052	41736022	A A	ACTTCTTC others(199): Show ACTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0092 a0001c0002t0006g0092	1	255	0.0039	206	c.48 others(217): Show c.4815_*4816insAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAG	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3350		chr21	TogoVar
RNASE10_chr14_20500537_20518884	20505258	T T	TCCTCTCC others(199): Show TCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0167 a0001c0001t0028g0167	1	382	0.0026	206	c.-76 others(215): Show c.-767_-766insCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCC	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding		278		chr14	TogoVar
RNF223_chr1_1065967_1079306	1078351	G G	GGGGTGGC others(199): Show GGGGTGGCTGAGCTATGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGA CTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGGAGGCTGA GGCTATGGGGACTCCGTGGGGGAGGCTGAGGCTATGGGACTCCGTGGGGG GAGGCTGAGGCTATGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	276	0.0036	206	c.-43 others(217): Show c.-4346_-4345insGGCACGGAGTCCCCATAGCCTCAGCCTCCCCCCA CGGAGTCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCATAGCCTCAGCC TCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCCACGGAGTCCCCAT AGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACG GAGTCCCATAGCTCAGCCACCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		4046		chr1	TogoVar
RPS21_chr20_62382103_62393520	62382278	G G	GTGATGGC others(199): Show GTGATGGCGATGATGTGATGATGGTGGTGGTGGTGGTGATGGCGATGGTG ATGATGGTGGTGATGATAGTGATGGCGATGATGTGATGATGGTGGTGGTG ATGATAGTGATGGCGATGATGTGATGGTGGTGGTGATAGTGATGGCGATG ATGTGATGATGGTGGTGGTGGTGATGATAGTGATGGCGATGGTGATGGTG GTGGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp2 NA18998.hp1 NA19011.hp1 NA18940.hp2 NA18998.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	3	12	0.2500	206	c.-48 others(217): Show c.-4877_-4876insTGATGGCGATGATGTGATGATGGTGGTGGTGGTG GTGATGGCGATGGTGATGATGGTGGTGATGATAGTGATGGCGATGATGTG ATGATGGTGGTGGTGATGATAGTGATGGCGATGATGTGATGGTGGTGGTG ATAGTGATGGCGATGATGTGATGATGGTGGTGGTGGTGATGATAGTGATG GCGATGGTGATGGTGGTGGTGA	RPS21	ENSG00000171858.18	transcript	ENST00000343986.9	protein_coding		4824		chr20	TogoVar
RPS21_chr20_62382103_62393520	62382278	G G	GTGATGGC others(199): Show GTGATGGCGATGATGTGGTGATGGTGGTGGTGGTGGTGATGGCGATGGTG ATGATGGTGGTGATGATAGTGATGGCGATGATGTGATGATGGTGGTGGTG ATGATAGTGATGGCGATGATGTGATGGTGGTGGTGATAGTGATGGCGATG ATGTGATGATGGTGGTGGTGGTGATGATAGTGATGGCGATGGTGATGGTG GTGGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	2	11	0.1818	206	c.-48 others(217): Show c.-4877_-4876insTGATGGCGATGATGTGGTGATGGTGGTGGTGGTG GTGATGGCGATGGTGATGATGGTGGTGATGATAGTGATGGCGATGATGTG ATGATGGTGGTGGTGATGATAGTGATGGCGATGATGTGATGGTGGTGGTG ATAGTGATGGCGATGATGTGATGATGGTGGTGGTGGTGATGATAGTGATG GCGATGGTGATGGTGGTGGTGA	RPS21	ENSG00000171858.18	transcript	ENST00000343986.9	protein_coding		4824		chr20	TogoVar
RSPH10B_chr7_5921136_5975689	5930763	C C	CGTACACA others(199): Show CGTACACAGCCCACCAAGATGCCTAGCAGCAAAGGTGTACATGTACACAG CCCCCCCAAGATACCTAGCAGCAAAGGTGAGCATGTACACAGCCCCCCAA GATGCCTAGCAGCAAAGGTGAGCATGTACACAGCCCCCCAAGATGCCTAG CAGCAAAGGTGAGCATGTACACAGCCCCCCAAGATGCCTAGCAGCAAAGG TGAGCAT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	14	0.0714	206	c.223 others(225): Show c.2233+2018_2233+2019insATGCTCACCTTTGCTGCTAGGCATCT TGGGGGGCTGTGTACATGCTCACCTTTGCTGCTAGGCATCTTGGGGGGCT GTGTACATGCTCACCTTTGCTGCTAGGCATCTTGGGGGGCTGTGTACATG CTCACCTTTGCTGCTAGGTATCTTGGGGGGGCTGTGTACATGTACACCTT TGCTGCTAGGCATCTTGGTGGGCTGTGTAC	RSPH10B	ENSG00000155026.17	transcript	ENST00000404406.6	protein_coding	19/20			chr7	TogoVar
RTN4R_chr22_20236415_20273318	20268314	G G	GGACTGGC others(199): Show GGACTGGCGGGGCGCTCGCAGCGCGGGCCGCCGGGAGGATGAATGTTTTA TGGGATCAGGTGGTTTGACGCGCGAGGAATCCGCCCGGTTCCCCCGCCGG CCGGGGCGGGGCGGGGGCGGGCCGGGGCGGGGCCTCGCGGCGGGCGGAGC GCTCACCTGGGCGCGGGCGCGGGCGCGGGCCCGGGCGGGGGCGGGGGGGC GCGGGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00408.hp2 HG02129.hp2 HG02155.hp2 others(12): Show HG00408.hp2 HG02129.hp2 HG02155.hp2 NA18945.hp2 NA18963.hp1 NA18973.hp2 NA18984.hp1 NA18990.hp2 NA18995.hp1 NA18995.hp2 NA19003.hp1 NA19011.hp2 NA19057.hp1 NA19079.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0260 a0001c0001t0002g0261 others(10): Show a0001c0001t0002g0026 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271	15	373	0.0402	206	c.-22 others(215): Show c.-223_-222insGGCCCGCGCCCCCCCGCCCCCGCCCGGGCCCGCGCC CGCGCCCGCGCCCAGGTGAGCGCTCCGCCCGCCGCGAGGCCCCGCCCCGG CCCGCCCCCGCCCCGCCCCGGCCGGCGGGGGAACCGGGCGGATTCCTCGC GCGTCAAACCACCTGATCCCATAAAACATTCATCCTCCCGGCGGCCCGCG CTGCGAGCGCCCCGCCAGTC	RTN4R	ENSG00000040608.14	transcript	ENST00000043402.8	protein_coding	1/2	223		chr22	TogoVar
RTN4R_chr22_20236415_20273318	20268314	G G	GGACTGGC others(199): Show GGACTGGCGGGGCGCTCGCAGCGCGGGCCGCCGGGAGGATGAATGTTTTA TGGGATCAGGTGGTTTGACGCGCGAGGAATCCGCCCGGTTCCCCCGCCGG CCGGGGCGGGGCGGGGGCGGGCCGGGGCGGGGCCTCGCGGCGGGCGGAGC GCTCACCTGGGCGCGGGCGCGGGCGCGGGCCCGGGCGGGGGCTTGGGGGC GCGGGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03041.hp1 NA18944.hp1 HG03041.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0249 a0001c0001t0006g0250 a0001c0001t0006g0249 a0001c0001t0006g0250	2	360	0.0056	206	c.-22 others(215): Show c.-223_-222insGGCCCGCGCCCCCAAGCCCCCGCCCGGGCCCGCGCC CGCGCCCGCGCCCAGGTGAGCGCTCCGCCCGCCGCGAGGCCCCGCCCCGG CCCGCCCCCGCCCCGCCCCGGCCGGCGGGGGAACCGGGCGGATTCCTCGC GCGTCAAACCACCTGATCCCATAAAACATTCATCCTCCCGGCGGCCCGCG CTGCGAGCGCCCCGCCAGTC	RTN4R	ENSG00000040608.14	transcript	ENST00000043402.8	protein_coding	1/2	223		chr22	TogoVar
RTN4R_chr22_20236415_20273318	20268314	G G	GGACTGGC others(199): Show GGACTGGCGGGGCGCTCGCAGCGCGGGCCGCCGGGAGGATGAATGTTTTA TGGGATCAGGTGGTTTGACGCGCGAGGAATCCGCCCGGTTCCCCCGCCGG CCGGGGCGGGGCGGGGGCGGGCCGGGGCGGGGCCTCGCGGCGGGCGGAGC GCTCACCTGGGCGCGGGCGCGGGCGCGGGCCCGGGCGGGGGGTGGGGGGC GCGGGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01891.hp1 HG02622.hp1 HG03209.hp2 others(2): Show HG01891.hp1 HG02622.hp1 HG03209.hp2 HG03453.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0057 a0001c0001t0004g0251 a0001c0001t0004g0252 others(1): Show a0001c0001t0004g0057 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0004g0253	5	363	0.0138	206	c.-22 others(215): Show c.-223_-222insGGCCCGCGCCCCCCACCCCCCGCCCGGGCCCGCGCC CGCGCCCGCGCCCAGGTGAGCGCTCCGCCCGCCGCGAGGCCCCGCCCCGG CCCGCCCCCGCCCCGCCCCGGCCGGCGGGGGAACCGGGCGGATTCCTCGC GCGTCAAACCACCTGATCCCATAAAACATTCATCCTCCCGGCGGCCCGCG CTGCGAGCGCCCCGCCAGTC	RTN4R	ENSG00000040608.14	transcript	ENST00000043402.8	protein_coding	1/2	223		chr22	TogoVar
RUFY1_chr5_179545554_179615012	179550536	C C	CCGCCCGC others(199): Show CCGCCCGCCCCCACCCCGCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGC CCGCCCGCCCCCACCCCGCGCCCGCCCCCACCCCGCGCCCGCCCCCACCC CGCGCCCGCCCCCACCCCGCGCCCGCCCCCACCCCGCGCCCGCCCCCACC CCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCC CACCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0160 a0001c0002t0002g0160	1	175	0.0057	206	c.-34 others(213): Show c.-34_-33insCGCCCGCCCCCACCCCGCGCCCGCCCGCCCCCACCCCG CGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCCCACCCCGCGCC CGCCCCCACCCCGCGCCCGCCCCCACCCCGCGCCCGCCCCCACCCCGCGC CCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGC CCGCCCGCCCCCACCCCG	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		17		chr5	TogoVar
SCARB1_chr12_124771856_124868864	124840024	C C	CACATGGG others(199): Show CACATGGGCCCCGATTTCTCCGCACACTCACCCCAACGGCACACATGGGC CCCGATTTCTCCGCATCCTCACCCCAACGGCACACATGGGCCCCGATTTC TCCGCATCCTCACCCCAACGGCACACATGGGCCCCCGATTTCTCCGCACA CTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCATCCTCACCCCA ACGGCAT	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0167 a0001c0003t0002g0167	1	21	0.0476	206	c.127 others(225): Show c.127-22318_127-22317insATGCCGTTGGGGTGAGGATGCGGAGA AATCGGGGCCCATGTGTGCCGTTGGGGTGAGTGTGCGGAGAAATCGGGGG CCCATGTGTGCCGTTGGGGTGAGGATGCGGAGAAATCGGGGCCCATGTGT GCCGTTGGGGTGAGGATGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGG GTGAGTGTGCGGAGAAATCGGGGCCCATGT	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCFD2_chr4_52867982_53371061	53207619	G G	GACCCAAA others(199): Show GACCCAAACCATATTAGACTTTTCATTTAGAACATTATATATATATAAAT TGTATATATATATAAATTGTATATATAATATATATATAAATTGTATATAT ATATAAATTGTATATATAATATATATATAAATTATATATATATATACAAT TTATATATATATAATGTTCTAAATGAAAAGTCTAATATGGTTTGGGTCTG TATCACC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00558.hp1 others(30): Show HG00140.hp1 HG00408.hp2 HG00558.hp1 HG01106.hp2 HG01168.hp1 HG01169.hp2 HG01255.hp2 HG01261.hp1 HG01358.hp2 HG01433.hp1 HG01515.hp1 HG01884.hp2 HG02145.hp2 HG02155.hp2 HG02280.hp1 HG02602.hp2 HG02622.hp1 HG02809.hp1 HG02922.hp1 HG03130.hp1 HG03195.hp1 HG03704.hp2 HG03834.hp1 NA18612.hp2 NA18747.hp2 NA18945.hp2 NA18973.hp1 NA18978.hp1 NA18998.hp1 NA19007.hp1 NA19088.hp2 NA19091.hp1 NA20905.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0002c0006 a0004c0010	a0001c0001t0001 a0001c0001t0002 a0001c0003t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0003 a0001c0003t0005 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0008 a0002c0006t0001 a0002c0006t0003 a0004c0010t0001	a0001c0001t0001g0120 a0001c0001t0001g0126 a0001c0001t0001g0131 others(30): Show a0001c0001t0001g0120 a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0002g0107 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0130 a0001c0001t0002g0139 a0001c0003t0003g0133 a0001c0003t0005g0080 a0001c0003t0005g0127 a0001c0003t0005g0129 a0002c0002t0001g0005 a0002c0002t0001g0082 a0002c0002t0001g0102 a0002c0002t0001g0111 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0002g0112 a0002c0002t0004g0006 a0002c0002t0008g0116 a0002c0006t0001g0117 a0002c0006t0003g0015 a0002c0006t0003g0083 a0002c0006t0003g0103 a0004c0010t0001g0002	33	84	0.3929	206	c.131 others(227): Show c.1312-62038_1312-62037insGGTGATACAGACCCAAACCATATT AGACTTTTCATTTAGAACATTATATATATATAAATTGTATATATATATAT AATTTATATATATATTATATATACAATTTATATATATATACAATTTATAT ATATATTATATATACAATTTATATATATATACAATTTATATATATATAAT GTTCTAAATGAAAAGTCTAATATGGTTTGGGT	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	4/8			chr4	TogoVar
SCHIP1_chr3_159268244_159902359	159680706	T T	TATATATA others(199): Show TATATATAATATATGTATATATAATATACATATATTATATATGTATATAT ATACATATATAATATATGTGTATATATATAATATACATATATTATATATG TATATATATACATATATAATATATGTATATTATATATATACATATAATAT ACATATATTATATGTATATATATACATATATAATATATGTATATTATATA TATATAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA18522.hp1 HG01884.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0077 a0001c0001t0001g0037 a0001c0001t0001g0077	2	17	0.1176	206	c.64- others(223): Show c.64-83715_64-83714insATATACATATATTATATATGTATATATA TACATATATAATATATGTGTATATATATAATATACATATATTATATATGT ATATATATACATATATAATATATGTATATTATATATATACATATAATATA CATATATTATATGTATATATATACATATATAATATATGTATATTATATAT ATATACATATATAATATATGTATATATA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCNN1D_chr1_1275436_1297025	1284177	T T	TTGGGTGA others(199): Show TTGGGTGAGGGGGGTGGGGTCGGGGGGGGGTTGAGTGAGGGGGGTGGGGG GTTGGGTGGGGGGTTGGGTGAGGGGGTTGGGGGGTTGGGTGAGGGGGGTG GGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGTTGGGTGAGGGGGTGGGGT GTTGGGTGAGGGGTTGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTG AGGGGGG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0004 a0008c0007t0004	a0008c0007t0004g0285 a0008c0007t0004g0285	1	136	0.0074	206	c.464 others(219): Show c.464+91_464+92insTGAGGGGGGTGGGGTCGGGGGGGGGTTGAGTG AGGGGGGTGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGTTGGGGGGTTG GGTGAGGGGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGTTGGGT GAGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGGGTTGGGTGAGGGGGGTG GGGGGGTTGGGTGAGGGGGGTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288993	T T	TCCGTCCC others(199): Show TCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0241 a0001c0009t0001g0241	1	231	0.0043	206	c.166 others(223): Show c.1662+963_1662+964insCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCCCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289035	C C	CCGTGTCT others(199): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCTCCGTCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCTCCGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0210 a0001c0001t0002g0210	1	254	0.0039	206	c.166 others(224): Show c.1662+999_1662+1000insGTGTCTCTGCTCCGTCCCCCGTGTCTC TGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGAGTCTCTGCTCCGTCCCG TGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTC TGCCCCGTCCCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289263	C C	CCGTGTCT others(199): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	257	0.0039	206	c.166 others(225): Show c.1663-1007_1663-1006insGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289366	T T	TCTGCTCC others(199): Show TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC CCCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCT CCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTC TCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC CGTGTCC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0001 a0002c0003t0001g0001	1	277	0.0036	206	c.166 others(223): Show c.1663-855_1663-854insCCGTGTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290128	C C	CCCCGAGT others(199): Show CCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	226	0.0044	206	c.166 others(223): Show c.1663-139_1663-138insAGTCTCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTC CCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	3527922	G G	GGGGGTGA others(199): Show GGGGGTGAATGGTAGGAGGTAAAGTTGGATGATAGCTAGCGGGTGAGTGG TGGGAGGTGAGGCTGGGTGTCAGTTAGCTAGGGGTTGAGTGGTGGGAAGT AATGTTGGATGATAGTCAGCTAGGGGTTGAGTGGTGGGAGGTGAGGTTGG ATCATAGCCAGCTAGGGGGTGAAGGGTAGGAGGTAAGGTTGGATCATAGC CAGCTAC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0033 a0033	a0033c0051 a0033c0051	a0033c0051t0062 a0033c0051t0062	a0033c0051t0062g0019 a0033c0051t0062g0019	1	116	0.0086	206	c.299 others(225): Show c.299-91136_299-90931dupAGTTGGATGATAGCTAGCGGGTGAGT GGTGGGAGGTGAGGCTGGGTGTCAGTTAGCTAGGGGTTGAGTGGTGGGAA GTAATGTTGGATGATAGTCAGCTAGGGGTTGAGTGGTGGGAGGTGAGGTT GGATCATAGCCAGCTAGGGGGTGAAGGGTAGGAGGTAAGGTTGGATCATA GCCAGCTACGGGGTGAATGGTAGGAGGTAA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEMA3C_chr7_80737538_80924051	80863884	T T	TACATATG others(199): Show TACATATGTATCACATACATATGTATCACATACATATGTATCACATACAT ATGTATCACATACATATGTATCACATACATATGTATCACATACATATGTA TCACATACATATGTATCACATACATATGTATCACATACATATGTATCACA TACATATGTATCACATACATATGTATCACATACATATGTATCACATACAT ATCACAC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	221	0.0045	206	c.104 others(225): Show c.104-35140_104-35139insGTGTGATATGTATGTGATACATATGT ATGTGATACATATGTATGTGATACATATGTATGTGATACATATGTATGTG ATACATATGTATGTGATACATATGTATGTGATACATATGTATGTGATACA TATGTATGTGATACATATGTATGTGATACATATGTATGTGATACATATGT ATGTGATACATATGTATGTGATACATATGT	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	2/17			chr7	TogoVar
SEMA3C_chr7_80737538_80924051	80863884	T T	TATATATG others(199): Show TATATATGTATCACATATATATGTATCACATATATATGTATCACATATAT ATGTATCACATATATATGTATCACATATATATGTATCACATATATATGTA TCACATATATATGTATCACATATATATGTATCACATATATATGTATCACA TATATATGTATCACATATATATGTATCACATATATATGTATCACATATAT ATCACAC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0062 a0001c0002t0001g0062	1	221	0.0045	206	c.104 others(225): Show c.104-35140_104-35139insGTGTGATATATATGTGATACATATAT ATGTGATACATATATATGTGATACATATATATGTGATACATATATATGTG ATACATATATATGTGATACATATATATGTGATACATATATATGTGATACA TATATATGTGATACATATATATGTGATACATATATATGTGATACATATAT ATGTGATACATATATATGTGATACATATAT	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	2/17			chr7	TogoVar
SEMA4D_chr9_89372235_89503113	89462954	G G	GGGAGGGG others(199): Show GGGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGAGAGCGAGGGGAGGGGA GCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAG GGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGG GGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGC GAGGGGA	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA19055.hp1 HG00438.hp2 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0047 a0001c0001t0008g0272 a0001c0001t0001g0047 a0001c0001t0008g0272	2	41	0.0488	206	c.-30 others(225): Show c.-309-7002_-309-7001insTCCCCTCGCTCGCTCCCCTCCCCTCG CTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCC CTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCC TCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCTCT CCCCTCCCCTCGCTCGCTCCCCTCCCCTCC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SEMA4D_chr9_89372235_89503113	89462954	G G	GGGAGGGG others(199): Show GGGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGA GCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAG GGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGG GGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGC GAGGGGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG01109.hp2 others(22): Show HG00280.hp1 HG00639.hp1 HG01109.hp2 HG01928.hp2 HG02015.hp2 HG02040.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02148.hp1 HG02615.hp1 HG03834.hp2 NA18942.hp1 NA18952.hp1 NA18952.hp2 NA18983.hp2 NA18984.hp1 NA18995.hp2 NA19010.hp1 NA19011.hp2 NA19057.hp1 NA19066.hp2 NA19079.hp1 NA20752.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007 a0002c0002 a0005c0008	a0001c0001t0001 a0001c0001t0010 a0001c0001t0012 others(8): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0012 a0001c0003t0042 a0001c0004t0049 a0001c0007t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0014 a0005c0008t0001	a0001c0001t0001g0151 a0001c0001t0001g0211 a0001c0001t0001g0222 others(22): Show a0001c0001t0001g0151 a0001c0001t0001g0211 a0001c0001t0001g0222 a0001c0001t0010g0165 a0001c0001t0012g0309 a0001c0001t0012g0337 a0001c0003t0042g0336 a0001c0004t0049g0369 a0001c0007t0001g0169 a0002c0002t0001g0057 a0002c0002t0001g0139 a0002c0002t0002g0298 a0002c0002t0002g0301 a0002c0002t0002g0313 a0002c0002t0002g0314 a0002c0002t0002g0319 a0002c0002t0002g0335 a0002c0002t0002g0344 a0002c0002t0002g0359 a0002c0002t0002g0360 a0002c0002t0002g0363 a0002c0002t0002g0365 a0002c0002t0003g0220 a0002c0002t0014g0334 a0005c0008t0001g0225	25	64	0.3906	206	c.-30 others(225): Show c.-309-7002_-309-7001insTCCCCTCGCTCGCTCCCCTCCCCTCG CTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCC CTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCC TCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCT CCCCTCCCCTCGCTCGCTCCCCTCCCCTCC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SEMA4D_chr9_89372235_89503113	89462954	G G	GGGAGGGG others(199): Show GGGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGA GCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAG GGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGG GGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGT GAGGGGA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	40	0.0250	206	c.-30 others(225): Show c.-309-7002_-309-7001insTCCCCTCACTCGCTCCCCTCCCCTCG CTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCC CTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCC TCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCT CCCCTCCCCTCGCTCGCTCCCCTCCCCTCC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SEMA4D_chr9_89372235_89503113	89462954	G G	GGGAGGGG others(199): Show GGGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGA GCGAGCGAGGGGAGTGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAG GGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGG GGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGC GAGGGGA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0286 a0001c0003t0002g0286	1	40	0.0250	206	c.-30 others(225): Show c.-309-7002_-309-7001insTCCCCTCGCTCGCTCCCCTCCCCTCG CTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCC CTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCC TCCCCTCGCTCGCTCCACTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCT CCCCTCCCCTCGCTCGCTCCCCTCCCCTCC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SEMA4D_chr9_89372235_89503113	89462954	G G	GGGAGGGG others(199): Show GGGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGATCGAGGGGAGGGGA GCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAG GGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGG GGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGC GAGGGGA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01943.hp2 HG01981.hp2 others(2): Show HG01106.hp2 HG01943.hp2 HG01981.hp2 NA18964.hp2 NA18989.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0002c0002t0009 a0001c0001t0002 a0002c0002t0002 a0002c0002t0009	a0001c0001t0002g0349 a0002c0002t0002g0329 a0002c0002t0009g0302 others(2): Show a0001c0001t0002g0349 a0002c0002t0002g0329 a0002c0002t0009g0302 a0002c0002t0009g0307 a0002c0002t0009g0330	5	44	0.1136	206	c.-30 others(225): Show c.-309-7002_-309-7001insTCCCCTCGCTCGCTCCCCTCCCCTCG CTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCC CTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCC TCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGATCGCT CCCCTCCCCTCGCTCGCTCCCCTCCCCTCC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SEPTIN7_chr7_35796057_35912110	35814055	T T	TAAAAGTT others(199): Show TAAAAGTTGGAGAGTATTATACAAAAAATTAGCCGGGCGCGGTGGCGGGC GCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCA GTCCGACCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0206 a0001c0001t0005g0206	1	322	0.0031	206	c.61+ others(223): Show c.61+12802_61+12803insATACAAAAAATTAGCCGGGCGCGGTGGC GGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTC CGCAGTCCGACCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAA AAAAAAAAAAAAAAAGTTGGAGAGTATT	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SERINC2_chr1_31408213_31439678	31431904	T T	TAGGGTGG others(199): Show TAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGATAGGATGGTTAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGAG AGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGAGAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAG GGTGGAC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0140 a0001c0001t0004g0140	1	316	0.0032	206	c.101 others(225): Show c.1014-1047_1014-1046insATAGGATGGTTAGGGTGGATAGGATG GTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAG GGTGGAGAGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGTTAGGGTGGATAGGG TGGATAGGGTGGACAGGGTGGATAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(199): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTTC CCTTCCC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0042 a0001c0001t0006g0042	1	76	0.0132	206	c.691 others(225): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTCCCTTCCCTTCCCTTCCCTTCCCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SIGIRR_chr11_400716_419999	401948	G G	GCCCCGCT others(199): Show GCCCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGACCC GCTCACCCCCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTCA CCCCGGACCCCGCTCACACCGGACCCCGCTCACACCCGACCCGCTCACCC CCGACCCGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCCGC CCCGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	198	0.0051	206	c.39 others(217): Show c.3947_*3948insGAGCGGGGCGGGTGTGAGCGGGGCCCGGGGTGAG CGGGTCGGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGTGTGAGCGGGG TCCGGTGTGAGCGGGGTCCGGGGTGAGCGGGTCGGGGGTGAGCGGGGCTG GGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGTGTG AGCGGGTCGGGTGTGAGCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3767		chr11	TogoVar
SIGIRR_chr11_400716_419999	402345	C C	CCCACTCA others(199): Show CCCACTCACACCCGGCCCCGCTCACCCCCGCCCCGCTCACCCCCGACCCG CTCACACCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCA CCCCGGACCCCGCTCACCCCCGACCCGCTCACCCCGGCCCCGCTCACCCC AGCCCCGCTCACACCCGCCCCGCTCACCCGGGACCCCGCTCACACCCGCC CCGCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG02809.hp2 others(1): Show HG01256.hp1 HG01258.hp2 HG02809.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0120 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0120 a0001c0001t0001g0121	4	237	0.0169	206	c.35 others(217): Show c.3550_*3551insTGAGCGGGGCGGGTGTGAGCGGGGTCCCGGGTGA GCGGGGCGGGTGTGAGCGGGGCTGGGGTGAGCGGGGCCGGGGTGAGCGGG TCGGGGGTGAGCGGGGTCCGGGGTGAGCGGGGCGGGTGTGAGCGGGGCCG GGGTGAGCGGGGCCGGGTGTGAGCGGGTCGGGGGTGAGCGGGGCGGGGGT GAGCGGGGCCGGGTGTGAGTGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3370		chr11	TogoVar
SLC12A1_chr15_48201302_48309078	48270750	G G	GTATATAT others(199): Show GTATATATATATATATATATACTCTAAGTATTATATATTATATACTCCAA AACTGTGTGTGTGTGTGTGTGTGTATATATATATATATATATATATATAT ATATATTTATACACACATATATATACATACACATATATATATACACACAC ACACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATATATAT ATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	166	0.0060	206	c.240 others(225): Show c.2402+1006_2402+1007insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTGTGTGTGTATATATATATATATATATATATA TATATATATTTATACACACATATATATACATACACATATATATATACACA CACACACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATATA TATATATATATATATATATATATATATATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A1_chr15_48201302_48309078	48270750	G G	GTATATAT others(199): Show GTATATATATATATATATATATATATATACTCTAAGTATTATATATTATA TACTCCAAAACTGTGTGTGTGTGTGTATATATATATATATATATGTATAT ATATATATATTTATACACACATATATATACATACACATATATATATACAC ACACACACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATAT ATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02717.hp2 NA19091.hp2 HG02615.hp1 HG02717.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0062 a0001c0001t0001g0069 a0001c0002t0001g0142 a0001c0001t0001g0062 a0001c0001t0001g0069 a0001c0002t0001g0142	3	168	0.0179	206	c.240 others(225): Show c.2402+1014_2402+1015insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTGTATATATATATATATATATGTATATATATA TATATTTATACACACATATATATACATACACATATATATATACACACACA CACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATATATATA TATATATATATATATATATATATATATATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A1_chr15_48201302_48309078	48270750	G G	GTATATAT others(199): Show GTATATATATATATATATATATATATATATATACTCTAAGTATTATATAT TATATACTCCAAAACTGTGTGTGTGTGTGTATATATATATATATATATGT ATATATATATATATTTATACACACATATATATACATACACATATATATAT ACACACACACACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTAT ATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0100 a0001c0002t0001g0100	1	166	0.0060	206	c.240 others(225): Show c.2402+1018_2402+1019insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTGTATATATATATATATATATGTATATATATA TATATTTATACACACATATATATACATACACATATATATATACACACACA CACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATATATATA TATATATATATATATATATATATATATATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A7_chr5_1045384_1117063	1072135	G G	GAGCCCCC others(199): Show GAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCA GCACACGGGCATCACACTTAACGCAGCCCCCAGTGAGCCCCCAGCACACG GCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACACT TATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGTATCACA CTTATGC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0003 a0002c0012t0003	a0002c0012t0003g0073 a0002c0012t0003g0073	1	105	0.0095	206	c.224 others(225): Show c.2241+1497_2241+1498insGCATAAGTGTGATACCGTGTGCTGGG GGCTCACTGGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCGTGTGCTG GGGGCTCACTGGGGCTGCATAAGTGTGATGCCGTGTGCTGGGGGCTCACT GGGGGCTGCGTTAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGGCT GCATAAGTGTGATGCCGTGTGCTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072849	C C	CCCCCAGC others(199): Show CCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCA CACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCAT CACACTTATGCAGCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGC ATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACT TATGCAG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0090 a0001c0001t0007g0090	1	107	0.0093	206	c.224 others(223): Show c.2241+783_2241+784insCTGCATAAGTGTGATGCCCGTGTGCTGG GGGCTCACTGGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCAC TGGGGGCTCACTGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTC ACTGGGGGCTGCATAAGTGTGATGCCGTGTGCTGGGGGCTCACTGGGGGC TGCATAAGTGTGATGCCGTGTGCTGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1073173	G G	GAGCCCCC others(199): Show GAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCC AGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCC CCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACAC GGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACA CTTATGC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0018 a0001c0003t0017g0018	1	98	0.0102	206	c.224 others(223): Show c.2241+459_2241+460insGCATAAGTGTGATGCCGTGTGCTGGGGG CTCACTGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGG GCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGCTGCATAA GTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGGCTGCATAAGTGTGATG CCCGTGTGCTGGGGGCTCACTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC35F1_chr6_117902264_118322671	117923702	T T	TATGTACA others(199): Show TATGTACATATGTACATATATACATATGTATATATACATATATGTACATA TGTACATATATGTATATATACATATATACATATGTATATATATACATATA TGTACATATGTACATATATACATATACATATATGTACATATACACATATA CACATGTACATATACATATGTATATATGTACATATGTACATATATGTATA TATGTAC	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0007 a0001c0001t0017g0007	1	136	0.0074	206	c.173 others(225): Show c.173+15805_173+15806insGTACATATGTACATATATACATATGT ATATATACATATATGTACATATGTACATATATGTATATATACATATATAC ATATGTATATATATACATATATGTACATATGTACATATATACATATACAT ATATGTACATATACACATATACACATGTACATATACATATGTATATATGT ACATATGTACATATATGTATATATGTACAT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC8A1_chr2_40092270_40457090	40200177	T T	TATATATA others(199): Show TATATATATATATATTTATATATATATATAAATATATATATATATTTATA TATATATATAAATATATATATATATTTATATATATATATAAATATATATA TATATTTATATATATATAAATATATATATATATTTATATATATATATAAA TATATATATATATTTATATATATATAAATATATATATATATTTATATATA TATATAA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	193	0.0052	206	c.180 others(227): Show c.1809-21685_1809-21684insTTATATATATATATAAATATATAT ATATATTTATATATATATAAATATATATATATATTTATATATATATATAA ATATATATATATATTTATATATATATAAATATATATATATATTTATATAT ATATATAAATATATATATATATTTATATATATATATAAATATATATATAT ATTTATATATATATATAAATATATATATATAT	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SMAD2_chr18_47803957_47935659	47850548	A A	AATATATA others(199): Show AATATATATTATGTATAATATATATTATATATTATATATATATTATATAT ATTATGTATAATATATATTATATATTATATATATATTATGTATAATATAT ATTATATATTATATATATATTATATATATTATGTATAATATATATTATAT ATTATATATATATTATATATATTATGTATAATATATATTATATATTATAT ATATATT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	206	0.0049	206	c.784 others(221): Show c.784+725_784+726insAATATATATATAATATATAATATATATTAT ACATAATATATATAATATATATATAATATATAATATATATTATACATAAT ATATATAATATATATATAATATATAATATATATTATACATAATATATATA TAATATATAATATATATTATACATAATATATATAATATATATATAATATA TAATATATATTATACATAATATATAT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SNTG2_chr2_945849_1372613	1223135	G G	GGCGTCTC others(199): Show GGCGTCTCCCTGTCCTGCTGCTGGAGGTGCTGAATCGCTGTAGAGGAAAG TGGTGCAGTGATGGAGGGCGCCTCCCTGTCCTGCCTGCTGCTGGAGGTGC TGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGTGCGTCTCCCTGTC CTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAGGCGGCGCAGTG ATGGAGT	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA18969.hp1 HG02165.hp2 NA18969.hp1	a0014 a0019 a0014 a0019	a0014c0032 a0019c0030 a0014c0032 a0019c0030	a0014c0032t0001 a0019c0030t0001 a0014c0032t0001 a0019c0030t0001	a0014c0032t0001g0062 a0019c0030t0001g0160 a0014c0032t0001g0062 a0019c0030t0001g0160	2	148	0.0135	206	c.719 others(225): Show c.719+13922_719+13923insTGCTGGAGGTGCTGAATCGCTGTAGA GGAAAGTGGTGCAGTGATGGAGGGCGCCTCCCTGTCCTGCCTGCTGCTGG AGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGTGCGTCTC CCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAGGCGGC GCAGTGATGGAGTGCGTCTCCCTGTCCTGC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX12_chrX_71054247_71073334	71071574	A A	ATATATAT others(199): Show ATATATATAAATATATAATATTTATATATTATATATATAAATATATAATA TTTATATATTATATATATAAATATATAATATTTATATATTATATATATAA ATATATAATATTTATATATTATATATAAATATATAATATTTATATATTAT ATATAAATATATAATATTTATATATTATATATATAAATATATAATATTTA TATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	230	0.0043	206	c.-32 others(217): Show c.-3269_-3268insATATATATAAATATTATATATTTATATATATAAT ATATAAATATTATATATTTATATATAATATATAAATATTATATATTTATA TATAATATATAAATATTATATATTTATATATATAATATATAAATATTATA TATTTATATATATAATATATAAATATTATATATTTATATATATAATATAT AAATATTATATATTTATATATA	SNX12	ENSG00000147164.12	transcript	ENST00000374274.8	protein_coding		3241		chrX	TogoVar
SNX6_chr14_34556093_34635148	34557555	T T	TCTTCTTC others(199): Show TCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCTTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTTCTTCTTCTTC TTTCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0285 a0001c0001t0003g0285	1	289	0.0035	206	c.55 others(217): Show c.5566_*5567insGAAGAAAGAAGAAGAAGAAAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAAGAAGAAGAAGAAGAA GAGGAAGAAGAAGAAGAAGAAG	SNX6	ENSG00000129515.20	transcript	ENST00000362031.10	protein_coding		3537		chr14	TogoVar
SOAT1_chr1_179288797_179363680	179353211	A A	ATATATAT others(199): Show ATATATATAAATATATATATATTTATATATATAAATATATATATAAATAT ATATATATTTATATATATAAATATATATATATAAATATATATATATTTAT ATATATAAATATATATATATTTATATATATATATTTATATATATAAATAT ATATATATTTATATATATAAATATATATATATTTATATATATAAATATAT ATATATT	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0206 a0001c0002t0001g0206	1	85	0.0118	206	c.159 others(223): Show c.1597-366_1597-365insAATATATATATATTTATATATATAAATA TATATATAAATATATATATATTTATATATATAAATATATATATATAAATA TATATATATTTATATATATAAATATATATATATTTATATATATATATTTA TATATATAAATATATATATATTTATATATATAAATATATATATATTTATA TATATAAATATATATATATTTATATATA	SOAT1	ENSG00000057252.13	transcript	ENST00000367619.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr1	TogoVar

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