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
RPH3AL_chr17_207389_357807	287897	A A	ACTCCCTC others(97): Show ACTCCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACC TCGCACCCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCCACCGTCAGA CCTCG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0071 a0001c0001t0022g0071	1	119	0.0084	104	c.352 others(121): Show c.352-6044_352-6043insCGAGGTCTGACGGTGGAGAGAGGGAGTG AGGTCTGACGGTGGAGAGAGGGTGCGAGGTCTGACGGTGGAGAGAGGGTG CGAGGTCTGACGGTGGAGAGAGGGAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	287981	T T	TCTCTCTC others(97): Show TCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTCGC ACCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTC GCACG	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	129	0.0078	104	c.352 others(121): Show c.352-6128_352-6127insCGTGCGAGGTCTGACGGTGGAGAGAGGG TGCGAGGTCTGACGGTGGAGAGAGGGTGCGAGGTCTGACGGTGGAGAGAG GGTGCGAGGTCTGACGGTGGAGAGAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	288431	T T	TCTCTCCA others(97): Show TCTCTCCACCGTCAGACCTCACTCCCTCTCTCTCCACCGTCAGACCTCAC TCCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTC ACTCC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0073 a0001c0002t0001g0073	1	126	0.0079	104	c.352 others(121): Show c.352-6578_352-6577insGGAGTGAGGTCTGACGGTGGAGAGAGGG TGCGAGGTCTGACGGTGGAGAGAGGGAGTGAGGTCTGACGGTGGAGAGAG AGGGAGTGAGGTCTGACGGTGGAGAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	319927	A A	AGGGGGAG others(97): Show AGGGGGAGGGAGACTGAGGGGAGGGAGGGGGAGGTGAGATTGAGGGGAGG GGAGGGGGAGGGGAGACTGAGGAGAGGGAGGGGAGGGAGGACTGAGGGGA TGGAG	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0004 a0001c0001t0032g0004	1	132	0.0076	104	c.222 others(119): Show c.222-379_222-378insCTCCATCCCCTCAGTCCTCCCTCCCCTCCC TCTCCTCAGTCTCCCCTCCCCCTCCCCTCCCCTCAATCTCACCTCCCCCT CCCTCCCCTCAGTCTCCCTCCCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	4/9			chr17	TogoVar
RPL5_chr1_92827040_92846924	92846867	A A	ATATATAT others(97): Show ATATATATATATACACACGTATATATATATATATATACACACGTATATAT ATATATACACACGTATATATATATACACGTATATATATATACATATATAT ATGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	321	0.0031	104	c.50 others(115): Show c.5002_*5003insTATATATATATACACACGTATATATATATATATA TACACACGTATATATATATATACACACGTATATATATATACACGTATATA TATATACATATATATATGTG	RPL5	ENSG00000122406.14	transcript	ENST00000370321.8	protein_coding		4944		chr1	TogoVar
RPL5_chr1_92827040_92846924	92846867	A A	ATGTATAT others(97): Show ATGTATATATATACACACGTATATATATATATATATACACACGTATATAT ATATATACACACGTATATATATATACACGTATATATATATACATATATAT ATGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	321	0.0031	104	c.50 others(115): Show c.5002_*5003insTGTATATATATACACACGTATATATATATATATA TACACACGTATATATATATATACACACGTATATATATATACACGTATATA TATATACATATATATATGTG	RPL5	ENSG00000122406.14	transcript	ENST00000370321.8	protein_coding		4944		chr1	TogoVar
RPSA2_chr19_23758004_23833868	23761901	A A	ATTCTTTC others(97): Show ATTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTC TCTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp1 NA18981.hp2 NA19083.hp1 NA18956.hp1 NA18981.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0015 a0001c0001t0004 a0001c0001t0015	a0001c0001t0004g0053 a0001c0001t0004g0063 a0001c0001t0015g0027 a0001c0001t0004g0053 a0001c0001t0004g0063 a0001c0001t0015g0027	3	269	0.0112	104	c.-15 others(115): Show c.-1536_-1535insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTCTCTCTCTCTCTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCT	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1102		chr19	TogoVar
RPSA2_chr19_23758004_23833868	23761901	A A	ATTCTTTC others(97): Show ATTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTC TCTCTCTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 NA19077.hp1 HG02071.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0144 a0001c0001t0042 a0001c0001t0144	a0001c0001t0042g0026 a0001c0001t0144g0040 a0001c0001t0042g0026 a0001c0001t0144g0040	2	268	0.0075	104	c.-15 others(115): Show c.-1536_-1535insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTCTCTCTCTCTCTCTCTCTTTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCT	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1102		chr19	TogoVar
RPSA2_chr19_23758004_23833868	23761902	T T	TTCTTTCT others(97): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCT CTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0054 a0001c0001t0004g0054	1	358	0.0028	104	c.-15 others(115): Show c.-1535_-1534insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TCTCTCTCTCTCTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1101		chr19	TogoVar
RPTOR_chr17_80539838_80971368	80565625	C C	CGGAGGGA others(97): Show CGGAGGGAGGCGTGCACTGCTGTGGAGGGGTTAGAGCCCCAGGGCTGGGA GGCGGAGGGAGGCGTGCACTGCTGTGGAGGGGTTAGAGCCCCAGGGCTGG GAGGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp1 HG00741.hp1 others(5): Show HG00099.hp2 HG00735.hp1 HG00741.hp1 HG01071.hp2 HG01167.hp2 HG02055.hp2 HG03139.hp1 NA18906.hp1	a0001 a0001	a0001c0025 a0001c0038 a0001c0039 others(4): Show a0001c0025 a0001c0038 a0001c0039 a0001c0040 a0001c0041 a0001c0042 a0001c0043	a0001c0025t0051 a0001c0025t0052 a0001c0038t0006 others(5): Show a0001c0025t0051 a0001c0025t0052 a0001c0038t0006 a0001c0039t0061 a0001c0040t0066 a0001c0041t0004 a0001c0042t0055 a0001c0043t0007	a0001c0025t0051g0174 a0001c0025t0052g0181 a0001c0038t0006g0178 others(5): Show a0001c0025t0051g0174 a0001c0025t0052g0181 a0001c0038t0006g0178 a0001c0039t0061g0177 a0001c0040t0066g0180 a0001c0041t0004g0175 a0001c0042t0055g0179 a0001c0043t0007g0176	8	91	0.0879	104	c.162 others(123): Show c.162+19896_162+19897insGTGCACTGCTGTGGAGGGGTTAGAGC CCCAGGGCTGGGAGGTGGAGGGAGGCGTGCACTGCTGTGGAGGGGTTAGA GCCCCAGGGCTGGGAGGCGGAGGGAGGC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	1/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RSRC1_chr3_158105089_158550730	158229108	G G	GTGTATAT others(97): Show GTGTATATAAACACACATACGTGTATATGTGTATATAAACACACATACGT GTATATGTGTATATAAACACGTGTATATGTGTATATAAACACATACGTGT ATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0009 a0001c0001t0009g0009	1	177	0.0056	104	c.494 others(123): Show c.494+25875_494+25876insCACATACGTGTATATGTGTATATAAA CACACATACGTGTATATGTGTATATAAACACGTGTATATGTGTATATAAA CACATACGTGTATATATGTATATAAACA	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSU1_chr10_16585611_16822424	16722855	T T	TATATACA others(97): Show TATATACATATATGTATATATACACACATATACATATATGTATATATACA CACATATACATATATGTATATATACACACATATACATATATGTATATATA CACAC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0143 a0001c0001t0006g0143	1	71	0.0141	104	c.599 others(123): Show c.599-27804_599-27701dupGTGTGTATATATACATATATGTATAT GTGTGTATATATACATATATGTATATGTGTGTATATATACATATATGTAT ATGTGTGTATATATACATATATGTATAT	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	7/8			chr10	TogoVar
RSU1_chr10_16585611_16822424	16785489	C C	CATATATA others(97): Show CATATATATATACATATATACATATATATATATACACATATATACATATA TATATACACACATATATACATATATACATATATATACACACACATATATA CATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	159	0.0063	104	c.110 others(121): Show c.110-3406_110-3405insATATGTATATATGTGTGTGTATATATAT GTATATATGTATATATGTGTGTATATATATATGTATATATGTGTATATAT ATATATGTATATATGTATATATATAT	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	2/8			chr10	TogoVar
RTN1_chr14_59590983_59875776	59750212	A A	ATATATAT others(97): Show ATATATATTATATCTATAATATATAATATATATATTATATCTATAATATA TAATATATATATTATATCTATAATATATAATATATATATTATATCTATAA TATAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0106 a0001c0003t0001g0106	1	124	0.0081	104	c.242 others(121): Show c.242-3732_242-3731insATATATTATAGATATAATATATATATTA TATATTATAGATATAATATATATATTATATATTATAGATATAATATATAT ATTATATATTATAGATATAATATATA	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RUFY1_chr5_179545554_179615012	179550512	T T	TGCCCGCC others(97): Show TGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCCCACCCCGCGCCCGCC CGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCCCACCCCGCGCCCGCC CGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0222 a0001c0002t0002g0222	1	219	0.0046	104	c.-58 others(111): Show c.-58_-57insGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCCCACC CCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCCCACC CCGCGCCCGCCCGCCC	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		41		chr5	TogoVar
RUFY1_chr5_179545554_179615012	179550512	T T	TGCCCGCC others(97): Show TGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCGCC CGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCGCC CGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0005 a0001c0002t0002g0005	1	219	0.0046	104	c.-58 others(111): Show c.-58_-57insGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCC CACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCC CACCCCGCGCCCGCCC	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		41		chr5	TogoVar
RUFY1_chr5_179545554_179615012	179550512	T T	TGCCCGCC others(97): Show TGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCG CGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCG CGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0266 a0001c0001t0002g0266	1	219	0.0046	104	c.-58 others(111): Show c.-58_-57insGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCG CCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCG CCCCCACCCCGCGCCC	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		41		chr5	TogoVar
RUNDC3B_chr7_87623398_87837296	87626336	G G	GTATATGT others(97): Show GTATATGTGTCATATATATGTGTCGTATATATGTGTCGTATATATGTGTC GTATATATGTGTCGTATATATGTGTCATATATATGTGTCATATATATGTG TCATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0131 a0001c0001t0008g0131	1	47	0.0213	104	c.-24 others(115): Show c.-2488_-2487insTATATGTGTCATATATATGTGTCGTATATATGTG TCGTATATATGTGTCGTATATATGTGTCGTATATATGTGTCATATATATG TGTCATATATATGTGTCATA	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2061		chr7	TogoVar
SAT1_chrX_23778173_23791210	23780126	C C	CATATATA others(97): Show CATATATATGTGTATATATATGTGTATATATACACATATATATGTGTATA TATATGTGTATATATACACATATATATGTGTATATATATGTATATATATA TACCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	102	0.0098	104	c.-32 others(115): Show c.-3226_-3225insATATATATGTGTATATATATGTGTATATATACAC ATATATATGTGTATATATATGTGTATATATACACATATATATGTGTATAT ATATGTATATATATATACCT	SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding		3046		chrX	TogoVar
SAV1_chr14_50628580_50673306	50635557	T T	TTGGGAGG others(97): Show TTGGGAGGCTGAGGTGGGAGGCTGAGGTGGGAGGCTGAGGTGGGAGGCTG AGGTGGGAGGCTGAGGTGGGAGGCTGAGGTGGGAGGCTGAGGTGGGAGGC TGAGG	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	388	0.0026	104	c.951 others(119): Show c.951-174_951-173insCCTCAGCCTCCCACCTCAGCCTCCCACCTC AGCCTCCCACCTCAGCCTCCCACCTCAGCCTCCCACCTCAGCCTCCCACC TCAGCCTCCCACCTCAGCCTCCCA	SAV1	ENSG00000151748.15	transcript	ENST00000324679.5	protein_coding	4/4			chr14	TogoVar
SCD5_chr4_82624539_82803796	82712256	A A	ATACATAT others(97): Show ATACATATATATATATATATATATATATATATATACATATATATATATAT ATATACATATATATATATATATACGTATATATATATACATATATATATAT ATACG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03195.hp1 HG02559.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0072 a0001c0001t0005g0065 a0001c0001t0002g0072 a0001c0001t0005g0065	2	189	0.0106	104	c.233 others(121): Show c.233-6844_233-6843insCGTATATATATATATATGTATATATATA TACGTATATATATATATATATGTATATATATATATATATATGTATATATA TATATATATATATATATATATATGTA	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4			chr4	TogoVar
SCGB1C2_chr17_132569_144067	140983	T T	TGGTGAGG others(97): Show TGGTGAGGGGACATGGGGGGGACCTGGTGAGGGGACATGGTGAGGGGACA TGGTGAGGGGAGCATGGTGAGGGGAACATGGGTGGGGAGCCTTGGTGAGG GGACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	347	0.0029	104	c.20 others(115): Show c.2041_*2042insGGTGAGGGGACATGGGGGGGACCTGGTGAGGGGA CATGGTGAGGGGACATGGTGAGGGGAGCATGGTGAGGGGAACATGGGTGG GGAGCCTTGGTGAGGGGACC	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		1917		chr17	TogoVar
SCN7A_chr2_166398573_166499249	166414853	T T	TATAATAT others(97): Show TATAATATATAATATATATTATATAGGATAATATATAATATATATTATAT AGGATAATATATAATATATATTATATAGGATAATATATAATATATATTAT ATAGG	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18956.hp1 NA18960.hp1 NA18947.hp2 NA18956.hp1 NA18960.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0270 a0004c0004t0005g0275 a0004c0004t0005g0281 a0004c0004t0005g0270 a0004c0004t0005g0275 a0004c0004t0005g0281	3	323	0.0093	104	c.341 others(123): Show c.3415-1733_3415-1732insCCTATATAATATATATTATATATTAT CCTATATAATATATATTATATATTATCCTATATAATATATATTATATATT ATCCTATATAATATATATTATATATTAT	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25			chr2	TogoVar
SCUBE1_chr22_43192280_43348372	43203360	G G	GTATATAT others(97): Show GTATATATATATATTTATATATATATTTATATATATATATTTATATATAT ATTTATATATATATATTTATATATATATTTATATATATATATTTATATAT ATATT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0041 a0001c0012t0041	a0001c0012t0041g0155 a0001c0012t0041g0155	1	276	0.0036	104	c.63 others(113): Show c.636_*637insAATATATATATAAATATATATATATAAATATATATA TAAATATATATATATAAATATATATATAAATATATATATATAAATATATA TATAAATATATATATATA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	22/22	636		chr22	TogoVar
SEL1L2_chr20_13844247_13995614	13848555	G G	GAGAAGAA others(97): Show GAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAAGAAGAA GAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	36	0.0278	104	c.92 others(113): Show c.929_*930insTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		691		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13934476	C C	CATATATA others(97): Show CATATATATATTCCATATATATATTCCATATATATATATTCCATATATAT ATATATTCCATATATATATATATTCCATATATATATATATTCCATATATA TATAT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA19011.hp1 NA18942.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0038 a0001c0001t0002g0016 a0001c0001t0002g0038	2	40	0.0500	104	c.115 others(121): Show c.115-2706_115-2705insATATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATATATGGAATATATATATAT GGAATATATATATGGAATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEMA3A_chr7_83950777_84199789	84091120	A A	AAGAAAGA others(97): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAGAAAGAAAGAAAGAAGGAAGGAAGGAAAGAAAGAAAGAAA GAAAG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01257.hp2 HG01258.hp1 HG00609.hp2 HG01257.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0201 a0001c0001t0007g0186 a0001c0001t0007g0187 a0001c0001t0001g0201 a0001c0001t0007g0186 a0001c0001t0007g0187	3	189	0.0159	104	c.453 others(123): Show c.453+19349_453+19350insCTTTCTTTCTTTCTTTCTTTCCTTCC TTCCTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84091120	A A	AAGAAAGA others(97): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAGAAAGAAAGAAAGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAA GAAAG	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18977.hp1 NA18984.hp1 others(2): Show NA18975.hp1 NA18977.hp1 NA18984.hp1 NA18990.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0003g0137 others(2): Show a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0003g0137 a0001c0001t0003g0145 a0001c0001t0003g0146	5	191	0.0262	104	c.453 others(123): Show c.453+19349_453+19350insCTTTCTTTCTTTCTTTCTTTCTTTCC TTCCTTCCTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84091120	A A	AAGAAAGA others(97): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAAGAAAGAAAGAAA GAAAG	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02148.hp2 HG01928.hp1 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0102 a0001c0001t0003g0103	2	188	0.0106	104	c.453 others(123): Show c.453+19349_453+19350insCTTTCTTTCTTTCTTTCTTTCCTTCC TTCCTTCCTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84091120	A A	AAGAAAGA others(97): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAGAAAGAAAGAAAGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAA GAAAG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01069.hp2 HG01071.hp1 others(1): Show HG00733.hp1 HG01069.hp2 HG01071.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0029 a0001c0001t0001 a0001c0001t0007 a0001c0001t0029	a0001c0001t0001g0255 a0001c0001t0007g0111 a0001c0001t0007g0134 others(1): Show a0001c0001t0001g0255 a0001c0001t0007g0111 a0001c0001t0007g0134 a0001c0001t0029g0025	4	190	0.0211	104	c.453 others(123): Show c.453+19349_453+19350insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCCTTCCTTCCTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84091120	A A	AAGAAAGA others(97): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGA AAGAAAGAAAGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAG	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	187	0.0053	104	c.453 others(123): Show c.453+19349_453+19350insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCCTTCCTTCCTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84091120	A A	AAGAAAGA others(97): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGA AAGAAAGAAAGAAGGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAA GAAAG	intron_variant intron_variant	MODIFIER	HG01071.hp2 NA18966.hp1 HG01071.hp2 NA18966.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0012 a0001c0002t0002 a0001c0003t0012	a0001c0002t0002g0262 a0001c0003t0012g0190 a0001c0002t0002g0262 a0001c0003t0012g0190	2	188	0.0106	104	c.453 others(123): Show c.453+19349_453+19350insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84091120	A A	AAGAAAGA others(97): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGA AAGAAAGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG03710.hp2 HG01934.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0200 a0001c0001t0001g0143 a0001c0001t0001g0200	2	188	0.0106	104	c.453 others(123): Show c.453+19349_453+19350insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCCTTCCTTCCTTCTTTCTTTCTTTCTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SERAC1_chr6_158104519_158173262	158169707	G G	GTATATTG others(97): Show GTATATTGTATAATATATTGTATATTGTATAATATATTGTATATTGTATA TTATATAATATATTGTATATTATATGTAATATATTGTATATTATATATTA TATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG01192.hp2 others(13): Show HG00140.hp1 HG00323.hp2 HG01192.hp2 HG01243.hp1 HG02145.hp1 HG02257.hp1 HG02602.hp1 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02895.hp2 HG03516.hp1 HG03834.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 others(13): Show a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0174	16	349	0.0458	104	c.-15 others(115): Show c.-1570_-1569insTTATATAATATATAATATACAATATATTACATAT AATATACAATATATTATATAATATACAATATACAATATATTATACAATAT ACAATATATTATACAATATA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1446		chr6	TogoVar
SERAC1_chr6_158104519_158173262	158169707	G G	GTATATTG others(97): Show GTATATTGTATAATATATTGTATATTGTATAATATATTGTATATTGTATA TTATATAATATATTGTATATTATATGTAATATATTGTATATTATATATTA TGTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02818.hp1 HG02630.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0158 a0001c0001t0019g0162 a0001c0001t0001g0158 a0001c0001t0019g0162	2	335	0.0060	104	c.-15 others(115): Show c.-1570_-1569insTTACATAATATATAATATACAATATATTACATAT AATATACAATATATTATATAATATACAATATACAATATATTATACAATAT ACAATATATTATACAATATA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1446		chr6	TogoVar
SERAC1_chr6_158104519_158173262	158169707	G G	GTATATTG others(97): Show GTATATTGTATAATATATTGTATATTGTATAATATATTGTATATTGTATA TTATGTAATATATTGTATATTATATGTAATATATTGTATATTATATATTA TATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01496.hp2 HG01256.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0157 a0001c0001t0001g0085 a0001c0001t0001g0157	2	335	0.0060	104	c.-15 others(115): Show c.-1570_-1569insTTATATAATATATAATATACAATATATTACATAT AATATACAATATATTACATAATATACAATATACAATATATTATACAATAT ACAATATATTATACAATATA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1446		chr6	TogoVar
SERBP1_chr1_67402810_67435402	67409386	G G	GACACACA others(97): Show GACACACACACACACACACACACACACACACACACACACACACACACACA CACACACACACACACACACACACACACACACACACACACACACACACACA CACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0073 a0001c0001t0073	a0001c0001t0073g0216 a0001c0001t0073g0216	1	246	0.0041	104	c.38 others(115): Show c.3820_*3821insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGT	SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding	8/8	3820		chr1	TogoVar
SERPINB9_chr6_2882270_2908309	2893191	T T	TATATATA others(97): Show TATATATATATATTATATATACGTATATATATATAATATATATATATTAT ATATACGTATATATATACGTATATATAATATATATATTATATATACGTAT ATATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00438.hp2 others(175): Show HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01074.hp2 HG01099.hp1 HG01109.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01361.hp2 HG01433.hp2 HG01516.hp2 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02622.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG03098.hp1 HG03688.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04199.hp1 HG04204.hp2 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19070.hp2 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0008	a0001c0001 a0002c0002 a0007c0011 others(1): Show a0001c0001 a0002c0002 a0007c0011 a0008c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(53): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0028 a0001c0001t0030 a0001c0001t0033 a0001c0001t0034 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0075 a0001c0001t0093 a0001c0001t0096 a0001c0001t0101 a0001c0001t0104 a0001c0001t0111 a0001c0001t0117 a0001c0001t0126 a0001c0001t0129 a0001c0001t0131 a0001c0001t0132 a0001c0001t0133 a0001c0001t0136 a0001c0001t0138 a0001c0001t0142 a0001c0001t0153 a0001c0001t0155 a0001c0001t0157 a0001c0001t0159 a0002c0002t0004 a0007c0011t0003 a0008c0009t0050	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(132): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0047 a0001c0001t0001g0104 a0001c0001t0001g0113 a0001c0001t0001g0133 a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0178 a0001c0001t0001g0200 a0001c0001t0001g0204 a0001c0001t0001g0210 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0257 a0001c0001t0001g0261 a0001c0001t0001g0272 a0001c0001t0001g0275 a0001c0001t0001g0278 a0001c0001t0001g0282 a0001c0001t0001g0303 a0001c0001t0002g0005 a0001c0001t0002g0012 a0001c0001t0002g0027 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0124 a0001c0001t0002g0145 a0001c0001t0002g0199 a0001c0001t0002g0231 a0001c0001t0002g0244 a0001c0001t0002g0354 a0001c0001t0003g0033 a0001c0001t0003g0154 a0001c0001t0003g0176 a0001c0001t0003g0224 a0001c0001t0003g0234 a0001c0001t0004g0125 a0001c0001t0004g0249 a0001c0001t0004g0274 a0001c0001t0004g0302 a0001c0001t0004g0376 a0001c0001t0005g0025 a0001c0001t0005g0139 a0001c0001t0005g0165 a0001c0001t0005g0177 a0001c0001t0005g0201 a0001c0001t0005g0251 a0001c0001t0005g0276 a0001c0001t0006g0026 a0001c0001t0006g0030 a0001c0001t0006g0131 a0001c0001t0006g0143 a0001c0001t0006g0270 a0001c0001t0007g0017 a0001c0001t0007g0254 a0001c0001t0007g0277 a0001c0001t0007g0304 a0001c0001t0008g0195 a0001c0001t0008g0238 a0001c0001t0008g0263 a0001c0001t0009g0140 a0001c0001t0010g0142 a0001c0001t0010g0266 a0001c0001t0011g0008 a0001c0001t0011g0194 a0001c0001t0011g0283 a0001c0001t0013g0024 a0001c0001t0013g0209 a0001c0001t0013g0247 a0001c0001t0013g0265 a0001c0001t0016g0189 a0001c0001t0017g0197 a0001c0001t0017g0287 a0001c0001t0018g0081 a0001c0001t0019g0227 a0001c0001t0020g0034 a0001c0001t0023g0080 a0001c0001t0023g0082 a0001c0001t0028g0188 a0001c0001t0030g0196 a0001c0001t0033g0138 a0001c0001t0033g0174 a0001c0001t0033g0240 a0001c0001t0034g0146 a0001c0001t0034g0256 a0001c0001t0039g0273 a0001c0001t0040g0161 a0001c0001t0040g0187 a0001c0001t0042g0151 a0001c0001t0042g0156 a0001c0001t0046g0280 a0001c0001t0047g0193 a0001c0001t0048g0353 a0001c0001t0050g0252 a0001c0001t0051g0147 a0001c0001t0052g0102 a0001c0001t0055g0175 a0001c0001t0055g0255 a0001c0001t0056g0028 a0001c0001t0057g0180 a0001c0001t0057g0258 a0001c0001t0075g0083 a0001c0001t0093g0379 a0001c0001t0096g0191 a0001c0001t0101g0281 a0001c0001t0104g0166 a0001c0001t0111g0203 a0001c0001t0117g0248 a0001c0001t0126g0192 a0001c0001t0129g0267 a0001c0001t0131g0132 a0001c0001t0132g0250 a0001c0001t0133g0190 a0001c0001t0136g0289 a0001c0001t0138g0202 a0001c0001t0142g0253 a0001c0001t0153g0377 a0001c0001t0155g0198 a0001c0001t0157g0123 a0001c0001t0159g0144 a0002c0002t0004g0239 a0007c0011t0003g0235 a0008c0009t0050g0375	178	410	0.4341	104	c.567 others(119): Show c.567+219_567+220insTATATATACGTATATATAATATATATATTA TATATACGTATATATATACGTATATATAATATATATATATTATATATATA TACGTATATATAATATATATATAT	SERPINB9	ENSG00000170542.6	transcript	ENST00000380698.5	protein_coding	5/6			chr6	TogoVar
SETBP1_chr18_44675888_45073510	44721942	C C	CAAATCTT others(97): Show CAAATCTTTGTGGCTTCTGATAATTTGCATATTGTCACTTGTTTGCCAAC TAGAGGGTATCTGGACATGTGTATGTGAGAGGGCATCTGCGTGGACATGC ATGTG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01192.hp2 HG01258.hp1 others(13): Show HG01175.hp2 HG01192.hp2 HG01258.hp1 HG01261.hp2 HG01496.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02080.hp2 HG02083.hp2 HG02523.hp1 HG03710.hp2 NA19000.hp1 NA19066.hp2 NA19083.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0005 a0001c0012 others(4): Show a0001c0001 a0001c0005 a0001c0012 a0002c0002 a0003c0003 a0004c0004 a0006c0007	a0001c0001t0001 a0001c0001t0006 a0001c0005t0001 others(9): Show a0001c0001t0001 a0001c0001t0006 a0001c0005t0001 a0001c0005t0002 a0001c0012t0003 a0002c0002t0006 a0003c0003t0001 a0003c0003t0002 a0003c0003t0011 a0003c0003t0017 a0004c0004t0001 a0006c0007t0023	a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0001t0001g0049 others(13): Show a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0065 a0001c0001t0006g0095 a0001c0005t0001g0111 a0001c0005t0002g0114 a0001c0012t0003g0069 a0002c0002t0006g0048 a0003c0003t0001g0047 a0003c0003t0001g0063 a0003c0003t0002g0014 a0003c0003t0011g0064 a0003c0003t0017g0052 a0004c0004t0001g0054 a0006c0007t0023g0062	16	133	0.1203	104	c.486 others(123): Show c.486+20215_486+20318dupAAATCTTTGTGGCTTCTGATAATTTG CATATTGTCACTTGTTTGCCAACTAGAGGGTATCTGGACATGTGTATGTG AGAGGGCATCTGCGTGGACATGCATGTG	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETBP1_chr18_44675888_45073510	44721942	C C	CAAATCTT others(97): Show CAAATCTTTGTGGCTTCTGATAATTTGCATATTGTCACTTGTTTGCTAAC TAGAGGGTATCTGGACATGTGTATGTGAGAGGGCATCTGCGTGGACATGC ATGTG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02717.hp2 HG03579.hp1 HG02615.hp2 HG02717.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0001t0005 a0001c0009t0002 a0001c0001t0001 a0001c0001t0005 a0001c0009t0002	a0001c0001t0001g0105 a0001c0001t0005g0138 a0001c0009t0002g0106 a0001c0001t0001g0105 a0001c0001t0005g0138 a0001c0009t0002g0106	3	120	0.0250	104	c.486 others(123): Show c.486+20155_486+20156insTAACTAGAGGGTATCTGGACATGTGT ATGTGAGAGGGCATCTGCGTGGACATGCATGTGAAATCTTTGTGGCTTCT GATAATTTGCATATTGTCACTTGTTTGC	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETBP1_chr18_44675888_45073510	44721942	C C	CAAATCTT others(97): Show CAAATCTTTGTGGCTTCTGATAATTTGTATATTGTCACTTGTTTGCCAAC TAGAGGGTATCTGGACATGTGTATGTGAGAGGGCATCTGCGTGGACATGC ATGTG	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0053 a0004c0004t0001g0053	1	118	0.0085	104	c.486 others(123): Show c.486+20136_486+20137insTATATTGTCACTTGTTTGCCAACTAG AGGGTATCTGGACATGTGTATGTGAGAGGGCATCTGCGTGGACATGCATG TGAAATCTTTGTGGCTTCTGATAATTTG	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETBP1_chr18_44675888_45073510	44722102	G G	GTATCTGG others(97): Show GTATCTGGACATGTGTATGTGAGAGGGCATCTGCGTGGACATGCATGTGA AATCTTTGTGGCTTCTGATAATTTGCATATTGTCACTTGTTTGCCAACTA GAGGT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0024 a0004c0004t0001g0024	1	138	0.0072	104	c.486 others(123): Show c.486+20318_486+20319insAAATCTTTGTGGCTTCTGATAATTTG CATATTGTCACTTGTTTGCCAACTAGAGGTTATCTGGACATGTGTATGTG AGAGGGCATCTGCGTGGACATGCATGTG	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SGIP1_chr1_66529153_66756139	66630829	A A	AAGAAAGA others(97): Show AAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAG	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0294 a0002c0002t0003g0294	1	291	0.0034	104	c.75- others(119): Show c.75-2222_75-2221insGAGAGAGAGAGAGAGAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAGAAAGAAAGAAAGAAAGA	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGIP1_chr1_66529153_66756139	66630833	A A	AAGAAAGA others(97): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAG	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0131 a0002c0003t0005g0131	1	288	0.0035	104	c.75- others(119): Show c.75-2206_75-2205insGAGAGAGAGAGAGAGAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGA	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SH3RF1_chr4_169089259_169275956	169178281	T T	TAAATAAG others(97): Show TAAATAAGCAACTATGCTTATTTAAAAAAATAAGCAACTATGCTTATTTA AAAAAATAAGCAACTATGCTTATTTAAAAAAATAAGCAACTATGCTTATT TAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02976.hp1 NA18951.hp2 HG02622.hp1 HG02976.hp1 NA18951.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0003c0005 a0001c0001 a0001c0006 a0003c0005	a0001c0001t0002 a0001c0006t0003 a0003c0005t0010 a0001c0001t0002 a0001c0006t0003 a0003c0005t0010	a0001c0001t0002g0032 a0001c0006t0003g0051 a0003c0005t0010g0052 a0001c0001t0002g0032 a0001c0006t0003g0051 a0003c0005t0010g0052	3	36	0.0833	104	c.394 others(123): Show c.394-21603_394-21602insTTTTAAATAAGCATAGTTGCTTATTT TTTTAAATAAGCATAGTTGCTTATTTTTTTAAATAAGCATAGTTGCTTAT TTTTTTAAATAAGCATAGTTGCTTATTT	SH3RF1	ENSG00000154447.15	transcript	ENST00000284637.14	protein_coding	2/11			chr4	TogoVar
SH3TC1_chr4_8194290_8246103	8211369	T T	TCCTCTCC others(97): Show TCCTCTCCCCCTCCCAGTTTCTCCCCTCTCCCTCCCTCTCCCCCTCCTGG TTTCTCCCCTCTCCCTCCCTCTCCACCCTCCTCACCGTTGTCTCCCTTCT CCCTC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02132.hp2 NA18975.hp2 others(1): Show HG00423.hp2 HG02132.hp2 NA18975.hp2 NA19011.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0007 a0001c0001 a0002c0003 a0002c0007	a0001c0001t0001 a0002c0003t0001 a0002c0007t0001 a0001c0001t0001 a0002c0003t0001 a0002c0007t0001	a0001c0001t0001g0061 a0002c0003t0001g0055 a0002c0003t0001g0064 others(1): Show a0001c0001t0001g0061 a0002c0003t0001g0055 a0002c0003t0001g0064 a0002c0007t0001g0045	4	350	0.0114	104	c.248 others(121): Show c.248-1319_248-1318insCAGTTTCTCCCCTCTCCCTCCCTCTCCC CCTCCTGGTTTCTCCCCTCTCCCTCCCTCTCCACCCTCCTCACCGTTGTC TCCCTTCTCCCTCCCTCTCCCCCTCC	SH3TC1	ENSG00000125089.18	transcript	ENST00000245105.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SH3TC1_chr4_8194290_8246103	8211402	T T	TCCTCTCC others(97): Show TCCTCTCCCCCTCCTGGTTTCTCCCCTCTTCCTTCCTCTCCCCCTCCCAG TTTCTCCCCTCTCCCTCCCTCTCCACCCTCCTCACCGTTGTCTCCCTTCT CCCTC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01109.hp1 HG01167.hp1 others(3): Show HG00741.hp1 HG01109.hp1 HG01167.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp2	a0001 a0006 a0008 others(2): Show a0001 a0006 a0008 a0017 a0019	a0001c0021 a0001c0033 a0006c0019 others(3): Show a0001c0021 a0001c0033 a0006c0019 a0008c0085 a0017c0082 a0019c0074	a0001c0021t0001 a0001c0033t0001 a0006c0019t0001 others(3): Show a0001c0021t0001 a0001c0033t0001 a0006c0019t0001 a0008c0085t0001 a0017c0082t0003 a0019c0074t0001	a0001c0021t0001g0105 a0001c0033t0001g0326 a0006c0019t0001g0357 others(3): Show a0001c0021t0001g0105 a0001c0033t0001g0326 a0006c0019t0001g0357 a0008c0085t0001g0358 a0017c0082t0003g0109 a0019c0074t0001g0110	6	28	0.2143	104	c.248 others(121): Show c.248-1271_248-1270insTCCTTCCTCTCCCCCTCCCAGTTTCTCC CCTCTCCCTCCCTCTCCACCCTCCTCACCGTTGTCTCCCTTCTCCCTCCC TCTCCCCCTCCTGGTTTCTCCCCTCT	SH3TC1	ENSG00000125089.18	transcript	ENST00000245105.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHC2_chr19_411589_466033	433102	T T	TGGCGCTT others(97): Show TGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGCCGGG CAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGC CGGGC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0005 a0003c0008t0005	a0003c0008t0005g0183 a0003c0008t0005g0183	1	207	0.0048	104	c.111 others(123): Show c.1110+1606_1110+1607insGCCCGGCCTCCTCTATCTCTCACTCA CGATCTCACTCACGATGAAGCGCCATCTGCCCGGCCTCCTCTAACTCTCA CTCACGATCTCACTCACGATGAAGCGCC	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SLC10A5_chr8_81688631_81700058	81688664	A A	AAAAGAAA others(97): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0000 a0004c0007t0001g0000	1	360	0.0028	104	c.49 others(115): Show c.4991_*4992insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTT	SLC10A5	ENSG00000253598.3	transcript	ENST00000518568.3	protein_coding		4966		chr8	TogoVar
SLC10A6_chr4_86818468_86854384	86842786	T T	TTTTCTTT others(97): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTC	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	76	0.0132	104	c.377 others(121): Show c.377+5952_377+5953insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAA	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar

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