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
SKI_chr1_2223319_2315213	2281859	C C	CACCTGAG others(37): Show CACCTGAGAAGACAGGCGGTGGTGGAGATCTTCAGAGAGAGAGAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0224 a0001c0001t0019g0224	1	243	0.0041	44	c.970 others(63): Show c.970-21119_970-21118insACCTGAGAAGACAGGCGGTGGTGGAG ATCTTCAGAGAGAGAGAT	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6			chr1	TogoVar
SKI_chr1_2223319_2315213	2281859	C C	CGCCTGAG others(37): Show CGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0163 a0001c0001t0010g0163	1	243	0.0041	44	c.970 others(63): Show c.970-21116_970-21115insTGAGAAGACAGGCGGTGGCGGAGATC TTCAGAGAGAGAGATGCC	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281902	C C	CGCCCGAG others(37): Show CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT	intron_variant intron_variant	MODIFIER	HG03688.hp1 NA18971.hp1 NA19057.hp2 HG03688.hp1 NA18971.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0018 a0001c0001t0003 a0001c0001t0008 a0001c0001t0018	a0001c0001t0003g0274 a0001c0001t0008g0041 a0001c0001t0018g0027 a0001c0001t0003g0274 a0001c0001t0008g0041 a0001c0001t0018g0027	3	266	0.0113	44	c.970 others(63): Show c.970-21068_970-21067insAGACAGGCGGTGGCGGAGATCTTCAG AGAGAGAGATGCCCGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281902	C C	CGCCTGAG others(37): Show CGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0068 a0001c0001t0069g0068	1	264	0.0038	44	c.970 others(63): Show c.970-21073_970-21072insTGAGAAGACAGGCGGTGGCGGAGATC TTCAGAGAGAGAGATGCC	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281945	C C	CGCCCGAG others(37): Show CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0324 a0001c0001t0001g0324	1	269	0.0037	44	c.970 others(63): Show c.970-21030_970-21029insCGAGAAGACAGGCGGTGGCGGAGATC TTCAGAGAGAGAGATGCC	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282010	C C	CGGAGATC others(37): Show CGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0137 a0001c0001t0060g0137	1	315	0.0032	44	c.970 others(63): Show c.970-20950_970-20949insAGATGCCCGAGAAGACAGGCGGTGGT GGAGATCTTCAGAGAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282031	C C	CACGTGAG others(37): Show CACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0044	1	245	0.0041	44	c.970 others(63): Show c.970-20947_970-20946insACGTGAGAAGACAGGCGGTGGCGGAG ATCTTCAGAGAGAGAGAT	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6			chr1	TogoVar
SKI_chr1_2223319_2315213	2282031	C C	CGCCTGAG others(37): Show CGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0323 a0001c0001t0002g0323	1	245	0.0041	44	c.970 others(63): Show c.970-20944_970-20943insTGAGAAGACAGGCGGTGGCGGAGATC TTCAGAGAGAGAGATGCC	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282183	C C	CGGAGATC others(37): Show CGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0006 a0001c0001t0051g0006	1	311	0.0032	44	c.970 others(63): Show c.970-20777_970-20776insAGATGCCCGAGAAGACAGGCGGTGGT GGAGATCTTCAGAGAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282204	C C	CGCCCGAG others(37): Show CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01256.hp2 HG01515.hp1 others(3): Show HG01081.hp2 HG01256.hp2 HG01515.hp1 HG01975.hp2 HG02165.hp2 HG03239.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0015 a0001c0001 a0002c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0015t0002	a0001c0001t0001g0109 a0001c0001t0002g0123 a0001c0001t0003g0214 others(3): Show a0001c0001t0001g0109 a0001c0001t0002g0123 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0218 a0002c0015t0002g0184	6	269	0.0223	44	c.970 others(63): Show c.970-20771_970-20770insCGAGAAGACAGGCGGTGGCGGAGATC TTCAGAGAGAGAGATGCC	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282208	T T	TGAGAAGA others(37): Show TGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0097 a0001c0001t0007g0097	1	70	0.0143	44	c.970 others(63): Show c.970-20734_970-20733insAGATGCCCGAGAAGACAGGCGGTGGC GGAGATCTTCAGAGAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282226	C C	CGGAGATC others(37): Show CGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	323	0.0031	44	c.970 others(63): Show c.970-20734_970-20733insAGATGCCCGAGAAGACAGGCGGTGGT GGAGATCTTCAGAGAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282247	C C	CGCCCGAG others(37): Show CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0039 a0001c0006t0039	a0001c0006t0039g0052 a0001c0006t0039g0052	1	221	0.0045	44	c.970 others(63): Show c.970-20691_970-20690insAGATGCCCGAGAAGACAGGCGGTGGC GGAGATCTTCAGAGAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282247	C C	CGCCTGAG others(37): Show CGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp2 NA19084.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0192 a0001c0001t0008g0106 a0001c0001t0003g0192 a0001c0001t0008g0106	2	222	0.0090	44	c.970 others(63): Show c.970-20728_970-20727insTGAGAAGACAGGCGGTGGCGGAGATC TTCAGAGAGAGAGATGCC	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282290	C C	CGCCCGAG others(37): Show CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	229	0.0044	44	c.970 others(63): Show c.970-20685_970-20684insCGAGAAGACAGGCGGTGGCGGAGATC TTCAGAGAGAGAGATGCC	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282294	T T	TGAGAAGA others(37): Show TGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0105	1	43	0.0233	44	c.970 others(63): Show c.970-20648_970-20647insAGATGCCCGAGAAGACAGGCGGTGGC GGAGATCTTCAGAGAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282333	C C	CGCCTGAG others(37): Show CGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0085 a0001c0001t0007g0085	1	272	0.0037	44	c.970 others(63): Show c.970-20642_970-20641insTGAGAAGACAGGCGGTGGCGGAGATC TTCAGAGAGAGAGATGCC	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282355	C C	CGGAGATC others(37): Show CGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0040 a0001c0001t0008g0040	1	324	0.0031	44	c.970 others(63): Show c.970-20605_970-20604insAGATGCCCGAGAAGACAGGCGGTGGT GGAGATCTTCAGAGAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282376	C C	CGCCCGAG others(37): Show CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02074.hp1 HG02300.hp2 others(3): Show HG02015.hp2 HG02074.hp1 HG02300.hp2 NA18962.hp2 NA19000.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0071	a0001c0001t0001g0124 a0001c0001t0001g0147 a0001c0001t0002g0083 others(3): Show a0001c0001t0001g0124 a0001c0001t0001g0147 a0001c0001t0002g0083 a0001c0001t0002g0248 a0001c0001t0007g0161 a0001c0001t0071g0201	6	199	0.0302	44	c.970 others(63): Show c.970-20562_970-20561insAGATGCCCGAGAAGACAGGCGGTGGC GGAGATCTTCAGAGAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282376	C C	CGCCTGAG others(37): Show CGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0323 a0001c0001t0002g0323	1	194	0.0052	44	c.970 others(63): Show c.970-20599_970-20598insTGAGAAGACAGGCGGTGGCGGAGATC TTCAGAGAGAGAGATGCC	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2289589	G G	GGGTGCAG others(37): Show GGGTGCAGGGCAGGGCAGGAGAACCAAGATCGTGGGGGTGGGGGA	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0217 a0001c0001t0072g0217	1	298	0.0034	44	c.970 others(63): Show c.970-13388_970-13387insGTGCAGGGCAGGGCAGGAGAACCAAG ATCGTGGGGGTGGGGGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2309780	G G	GCCCCCCC others(37): Show GCCCCCCCCCCACCCCCTCCTCCCTGTGGGTCCGAACCCCGGCCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0079 a0001c0001t0052g0079	1	54	0.0185	44	c.30 others(55): Show c.3023_*3024insCCACCCCCTCCTCCCTGTGGGTCCGAACCCCGGC CCCCCCCCCC	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	7/7	3024	INFO_REALIGN_3_PRIME	chr1	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACACACA others(37): Show TACACACACACACACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	95	0.0105	44	c.47 others(55): Show c.4709_*4710insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACATACA others(37): Show TACATACATACATACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	95	0.0105	44	c.47 others(55): Show c.4709_*4710insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAT GTATGTATGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACATACA others(37): Show TACATACATACATATACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 NA19056.hp1 HG01433.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0268 a0001c0001t0001g0256 a0001c0001t0001g0268	2	96	0.0208	44	c.47 others(55): Show c.4709_*4710insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATAT GTATGTATGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLAMF8_chr1_159821873_159842492	159837224	T T	TCTAATAA others(37): Show TCTAATAAAGTTCCCATCCTTAATGACTCACTTGTCAACTAGTGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0026 a0001c0001t0015g0026	1	474	0.0021	44	c.19 others(55): Show c.1965_*2008dupCTAATAAAGTTCCCATCCTTAATGACTCACTTGT CAACTAGTGG	SLAMF8	ENSG00000158714.11	transcript	ENST00000289707.10	protein_coding	5/5	2009	INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC12A7_chr5_1045384_1117063	1064859	C C	CGAGGAGA others(37): Show CGAGGAGACGGCGAGGGGACAGCGAGGGGACGGCGAGGAGACGGT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0004 a0004	a0004c0033 a0004c0033	a0004c0033t0004 a0004c0033t0004	a0004c0033t0004g0072 a0004c0033t0004g0072	1	70	0.0143	44	c.243 others(61): Show c.2437+423_2437+424insACCGTCTCCTCGCCGTCCCCTCGCTGTC CCCTCGCCGTCTCCTC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	18/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070291	C C	CGGGCATC others(37): Show CGGGCATCACACTTAACGCAGCCCCCAGTGAGCCCCCAGCACACG	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0010 a0002c0016t0010	a0002c0016t0010g0082 a0002c0016t0010g0082	1	64	0.0156	44	c.224 others(63): Show c.2241+3341_2241+3342insCGTGTGCTGGGGGCTCACTGGGGGCT GCGTTAAGTGTGATGCCC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070650	G G	GCCCCCAG others(37): Show GCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTAACGCAGC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0062 a0002c0008t0002g0062	1	63	0.0159	44	c.224 others(63): Show c.2241+2982_2241+2983insGCTGCGTTAAGTGTGATGCCCGTGTG CTGGGGGCTCACTGGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070806	C C	CGGGCATC others(37): Show CGGGCATCACACTTAACGCAGCCCCCAGTGAGCCCCCAGCACACG	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19091.hp1 NA19074.hp1 NA19091.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0099 a0002c0002t0008g0100 a0002c0002t0008g0099 a0002c0002t0008g0100	2	64	0.0313	44	c.224 others(63): Show c.2241+2826_2241+2827insCGTGTGCTGGGGGCTCACTGGGGGCT GCGTTAAGTGTGATGCCC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071033	G G	GCCCCCAG others(37): Show GCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTAACGCAGC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0057 a0002c0016t0001g0057	1	72	0.0139	44	c.224 others(63): Show c.2241+2599_2241+2600insGCTGCGTTAAGTGTGATGCCCGTGTG CTGGGGGCTCACTGGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071074	G G	GCCCCCAG others(37): Show GCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTAACGCAGC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0003 a0002c0012t0003	a0002c0012t0003g0075 a0002c0012t0003g0075	1	72	0.0139	44	c.224 others(63): Show c.2241+2558_2241+2559insGCTGCGTTAAGTGTGATGCCCGTGTG CTGGGGGCTCACTGGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071352	C C	CGGGCATC others(37): Show CGGGCATCACACTTAACGCAGCCCCCAGTGAGCCCCCAGCACACG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0001 a0001c0032t0001	a0001c0032t0001g0112 a0001c0032t0001g0112	1	68	0.0147	44	c.224 others(63): Show c.2241+2280_2241+2281insCGTGTGCTGGGGGCTCACTGGGGGCT GCGTTAAGTGTGATGCCC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1096675	A A	AGAAAGGA others(37): Show AGAAAGGAGGGAGGGGGGAAGGGAGGGAAGGAAGGAGGGAGGAAG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0006 a0001c0009t0006	a0001c0009t0006g0064 a0001c0009t0006g0064	1	118	0.0085	44	c.125 others(61): Show c.125-2471_125-2428dupCTTCCTCCCTCCTTCCTTCCCTCCCTTC CCCCCTCCCTCCTTTC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC13A3_chr20_46552828_46656459	46632910	T T	TAGATAGA others(37): Show TAGATAGATAGATAGACAGACAGATAGCTCTTTATCTACCCACCC	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18948.hp2 HG02056.hp1 NA18948.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0002 a0001c0006t0007 a0001c0002t0002 a0001c0006t0007	a0001c0002t0002g0064 a0001c0006t0007g0279 a0001c0002t0002g0064 a0001c0006t0007g0279	2	238	0.0084	44	c.111 others(63): Show c.111+18400_111+18401insGGGTGGGTAGATAAAGAGCTATCTGT CTGTCTATCTATCTATCT	SLC13A3	ENSG00000158296.14	transcript	ENST00000279027.9	protein_coding	1/12			chr20	TogoVar
SLC13A3_chr20_46552828_46656459	46632911	A A	AGACAGAC others(37): Show AGACAGACAGATAGCTCTTTATCTACCCACCCAGATCTATCTATC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0013 a0001c0002t0002g0013	1	174	0.0057	44	c.111 others(63): Show c.111+18399_111+18400insGATAGATAGATCTGGGTGGGTAGATA AAGAGCTATCTGTCTGTC	SLC13A3	ENSG00000158296.14	transcript	ENST00000279027.9	protein_coding	1/12			chr20	TogoVar
SLC13A3_chr20_46552828_46656459	46632911	A A	AGATAGAC others(37): Show AGATAGACAGACAGATAGCTCTTTATCTACCCACCCAGATCTATC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03239.hp2 NA18995.hp2 HG03098.hp2 HG03239.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0269 a0001c0001t0001g0312 a0001c0006t0001g0156 a0001c0001t0001g0269 a0001c0001t0001g0312 a0001c0006t0001g0156	3	176	0.0170	44	c.111 others(63): Show c.111+18399_111+18400insGATAGATCTGGGTGGGTAGATAAAGA GCTATCTGTCTGTCTATC	SLC13A3	ENSG00000158296.14	transcript	ENST00000279027.9	protein_coding	1/12			chr20	TogoVar
SLC13A3_chr20_46552828_46656459	46632911	A A	AGATAGAT others(37): Show AGATAGATAGACAGACAGATAGCTCTTTATCTACCCACCCAGATC	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA19088.hp2 HG01934.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0123 a0001c0002t0002g0339 a0001c0002t0002g0123 a0001c0002t0002g0339	2	175	0.0114	44	c.111 others(63): Show c.111+18399_111+18400insGATCTGGGTGGGTAGATAAAGAGCTA TCTGTCTGTCTATCTATC	SLC13A3	ENSG00000158296.14	transcript	ENST00000279027.9	protein_coding	1/12			chr20	TogoVar
SLC14A2_chr18_45610476_45688688	45645619	A A	ATATATAC others(37): Show ATATATACATATATATATATATATATACATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02647.hp1 HG02723.hp1 others(5): Show HG01109.hp2 HG02647.hp1 HG02723.hp1 HG02895.hp2 HG02976.hp1 HG03209.hp1 NA19030.hp2 NA19043.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0001 a0003c0005 a0001c0002 a0002c0001 a0003c0005	a0001c0002t0004 a0002c0001t0002 a0002c0001t0006 others(1): Show a0001c0002t0004 a0002c0001t0002 a0002c0001t0006 a0003c0005t0007	a0001c0002t0004g0242 a0001c0002t0004g0309 a0002c0001t0002g0268 others(4): Show a0001c0002t0004g0242 a0001c0002t0004g0309 a0002c0001t0002g0268 a0002c0001t0006g0080 a0003c0005t0007g0014 a0003c0005t0007g0267 a0003c0005t0007g0295	8	232	0.0345	44	c.135 others(63): Show c.1351+1463_1351+1464insTACATATATATATATATATATACATA TATATATATATATTTATA	SLC14A2	ENSG00000132874.15	transcript	ENST00000255226.11	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr18	TogoVar
SLC14A2_chr18_45610476_45688688	45645619	A A	ATATATAC others(37): Show ATATATACATATATATATATATATATATACATATATATATATATT	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0104 a0002c0001t0002g0104	1	225	0.0044	44	c.135 others(63): Show c.1351+1463_1351+1464insTACATATATATATATATATATATACA TATATATATATATTTATA	SLC14A2	ENSG00000132874.15	transcript	ENST00000255226.11	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr18	TogoVar
SLC16A2_chrX_74416493_74538916	74435515	A A	ATATATAT others(37): Show ATATATATATGCATATATATGTGTATATATATATGCATATATATG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00639.hp1 others(57): Show HG00140.hp1 HG00408.hp2 HG00639.hp1 HG01070.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01516.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG02080.hp1 HG02145.hp1 HG02257.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02647.hp1 HG02698.hp1 HG02723.hp1 HG02738.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03490.hp1 HG03516.hp1 HG03654.hp1 HG03669.hp1 HG03704.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04184.hp2 HG04204.hp1 NA18522.hp1 NA19086.hp1 NA20752.hp1 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0005 a0001c0001 a0002c0002 a0003c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0002c0002t0001 a0002c0002t0002 a0002c0002t0013 a0003c0005t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(56): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0048 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0110 a0001c0001t0001g0122 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0207 a0001c0001t0001g0218 a0001c0001t0004g0123 a0001c0001t0004g0124 a0001c0001t0009g0139 a0001c0001t0010g0133 a0002c0002t0001g0002 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0015 a0002c0002t0001g0018 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0026 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0046 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0096 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0002g0056 a0002c0002t0013g0047 a0003c0005t0001g0137	60	233	0.2575	44	c.430 others(63): Show c.430+13467_430+13468insGTGTATATATATATGCATATATATGT ATATATATGCATATATAT	SLC16A2	ENSG00000147100.11	transcript	ENST00000587091.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
SLC16A2_chrX_74416493_74538916	74435527	A A	ATATATAT others(37): Show ATATATATGTGTATATATATATGCATATATATGTATATATATGCG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0057 a0002c0002t0001g0057	1	233	0.0043	44	c.430 others(63): Show c.430+13467_430+13468insGTGTATATATATATGCATATATATGT ATATATATGCGTATATAT	SLC16A2	ENSG00000147100.11	transcript	ENST00000587091.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
SLC16A2_chrX_74416493_74538916	74439158	C C	CTCTTTCT others(37): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00609.hp1 HG01952.hp1 others(22): Show HG00408.hp1 HG00609.hp1 HG01952.hp1 HG01978.hp1 HG02080.hp2 HG02132.hp1 HG02135.hp1 NA18943.hp1 NA18965.hp1 NA18977.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18990.hp1 NA19000.hp1 NA19004.hp1 NA19009.hp1 NA19011.hp1 NA19012.hp1 NA19063.hp1 NA19082.hp1 NA19083.hp1 NA19088.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0007 a0002c0002t0001 a0001c0001t0001 a0001c0001t0007 a0002c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0036 others(20): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0036 a0001c0001t0001g0128 a0001c0001t0001g0143 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0197 a0001c0001t0001g0208 a0001c0001t0001g0215 a0001c0001t0001g0230 a0001c0001t0007g0158 a0002c0002t0001g0067	25	155	0.1613	44	c.430 others(63): Show c.430+17120_430+17121insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTT	SLC16A2	ENSG00000147100.11	transcript	ENST00000587091.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
SLC16A3_chr17_82224042_82245086	82227569	T T	TGGGAGCA others(37): Show TGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01070.hp1 HG01109.hp1 others(12): Show HG00741.hp1 HG01070.hp1 HG01109.hp1 HG01109.hp2 HG01257.hp1 HG01258.hp1 HG02257.hp1 HG02683.hp2 HG04199.hp1 NA18975.hp2 NA19004.hp2 NA19011.hp2 NA19043.hp1 NA19056.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0041 a0001c0001t0002g0045 a0001c0001t0002g0050 others(8): Show a0001c0001t0002g0041 a0001c0001t0002g0045 a0001c0001t0002g0050 a0001c0001t0002g0228 a0001c0001t0002g0230 a0001c0001t0002g0232 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0260 a0001c0001t0002g0268 a0001c0001t0009g0048	15	366	0.0410	44	c.-15 others(55): Show c.-1564_-1563insGGGAGCACCACCTGCCCTGGGCGGGAGCACCACC TGCCCTGGGC	SLC16A3	ENSG00000141526.18	transcript	ENST00000582743.6	protein_coding		1472		chr17	TogoVar
SLC16A4_chr1_110357857_110396026	110380058	C C	CAAAAAAA others(37): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18747.hp2 NA18956.hp1 others(1): Show HG00423.hp1 NA18747.hp2 NA18956.hp1 NA19079.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0002c0003t0001 a0001c0001t0003 a0002c0003t0001	a0001c0001t0003g0262 a0002c0003t0001g0081 a0002c0003t0001g0082 others(1): Show a0001c0001t0003g0262 a0002c0003t0001g0081 a0002c0003t0001g0082 a0002c0003t0001g0083	4	170	0.0235	44	c.527 others(59): Show c.527-703_527-702insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	SLC16A4	ENSG00000168679.18	transcript	ENST00000369779.9	protein_coding	5/8			chr1	TogoVar
SLC16A9_chr10_59645764_59714850	59694817	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0075 a0001c0001t0003g0075	1	106	0.0094	44	c.-36 others(63): Show c.-36-10491_-36-10490insGTGTGTGTATATATATATATATATAT ATATATATATATATATAT	SLC16A9	ENSG00000165449.12	transcript	ENST00000395348.8	protein_coding	1/5			chr10	TogoVar
SLC18B1_chr6_132764370_132803637	132792225	C C	CAGAAAGA others(37): Show CAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03540.hp2 others(3): Show HG03490.hp2 HG03492.hp2 HG03540.hp2 NA18965.hp1 NA18971.hp2 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0004c0007t0001 a0001c0001t0001 a0004c0007t0001	a0001c0001t0001g0004 a0001c0001t0001g0123 a0001c0001t0001g0152 others(2): Show a0001c0001t0001g0004 a0001c0001t0001g0123 a0001c0001t0001g0152 a0001c0001t0001g0221 a0004c0007t0001g0095	6	153	0.0392	44	c.184 others(61): Show c.184-1997_184-1954dupTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCT	SLC18B1	ENSG00000146409.12	transcript	ENST00000275227.9	protein_coding	2/13			chr6	TogoVar
SLC18B1_chr6_132764370_132803637	132792280	A A	AAAGAAAA others(37): Show AAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	240	0.0042	44	c.184 others(61): Show c.184-2009_184-2008insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTTCTT	SLC18B1	ENSG00000146409.12	transcript	ENST00000275227.9	protein_coding	2/13			chr6	TogoVar
SLC18B1_chr6_132764370_132803637	132792280	A A	AAAGAAAG others(37): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	HG01975.hp1 NA19004.hp2 HG01975.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0134 a0001c0001t0001g0002 a0001c0001t0001g0134	2	241	0.0083	44	c.184 others(61): Show c.184-2009_184-2008insCCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTT	SLC18B1	ENSG00000146409.12	transcript	ENST00000275227.9	protein_coding	2/13			chr6	TogoVar
SLC18B1_chr6_132764370_132803637	132792280	A A	AAAGAAAG others(37): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGG	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	240	0.0042	44	c.184 others(61): Show c.184-2009_184-2008insCCTTCCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTT	SLC18B1	ENSG00000146409.12	transcript	ENST00000275227.9	protein_coding	2/13			chr6	TogoVar

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