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
SLC9C1_chr3_112135898_112299216	112271393	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp2 NA19006.hp1 NA19068.hp1 HG01192.hp2 NA19006.hp1 NA19068.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0133 a0001c0002t0001g0156 a0001c0002t0001g0311 a0001c0002t0001g0133 a0001c0002t0001g0156 a0001c0002t0001g0311	3	149	0.0201	34	c.614 others(51): Show c.614-1317_614-1316insTATATATATATATATATATATATATATA TATATA	SLC9C1	ENSG00000172139.15	transcript	ENST00000305815.10	protein_coding	6/28			chr3	TogoVar
SLC9C2_chr1_173495460_173608072	173550872	A A	AAGAGAGA others(27): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0002 a0003c0014t0002	a0003c0014t0002g0035 a0003c0014t0002g0035	1	78	0.0128	34	c.129 others(53): Show c.1298-2354_1298-2321dupCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCT	SLC9C2	ENSG00000162753.13	transcript	ENST00000367714.4	protein_coding	11/27			chr1	TogoVar
SLCO1B3_chr12_20805705_20921911	20918434	G G	GTATGTGT others(27): Show GTATGTGTGTGTATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG02135.hp2 HG02602.hp1 others(2): Show HG01081.hp1 HG02135.hp2 HG02602.hp1 HG04184.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0133 a0001c0001t0001g0168 others(2): Show a0001c0001t0001g0050 a0001c0001t0001g0133 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0198	5	74	0.0676	34	c.21 others(45): Show c.2187_*2188insTATGTGTGTGTATATATATATATATATATATATA	SLCO1B3	ENSG00000111700.13	transcript	ENST00000381545.8	protein_coding		1524		chr12	TogoVar
SLCO1B3_chr12_20805705_20921911	20918434	G G	GTATGTGT others(27): Show GTATGTGTGTGTGTGTGTGTATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp1 NA19240.hp1 NA18982.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0002 a0002c0003t0003 a0002c0002t0002 a0002c0003t0003	a0002c0002t0002g0076 a0002c0003t0003g0259 a0002c0002t0002g0076 a0002c0003t0003g0259	2	71	0.0282	34	c.21 others(45): Show c.2187_*2188insTATGTGTGTGTGTGTGTGTATATATATATATATA	SLCO1B3	ENSG00000111700.13	transcript	ENST00000381545.8	protein_coding		1524		chr12	TogoVar
SLCO3A1_chr15_91848708_92170903	91926596	T T	TGTGTGTG others(27): Show TGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0068 a0001c0001t0019g0068	1	65	0.0154	34	c.646 others(53): Show c.646+10139_646+10140insTGTGTGTGTGTGTGTGTGCGCGCGCG CGCGCGCG	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO6A1_chr5_102366774_102504001	102370294	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03209.hp2 HG03195.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0107 a0001c0001t0001g0109	2	251	0.0080	34	c.18 others(45): Show c.1844_*1845insCATATATATATATATATATATATATATATATATA	SLCO6A1	ENSG00000205359.10	transcript	ENST00000506729.6	protein_coding		1479		chr5	TogoVar
SLCO6A1_chr5_102366774_102504001	102383094	G G	GTGTGTAT others(27): Show GTGTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG02258.hp1 others(2): Show HG01891.hp2 HG02055.hp1 HG02258.hp1 HG03139.hp2 NA18906.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0004c0005 a0001c0001 a0002c0003 a0004c0005	a0001c0001t0001 a0002c0003t0001 a0004c0005t0001 a0001c0001t0001 a0002c0003t0001 a0004c0005t0001	a0001c0001t0001g0282 a0001c0001t0001g0283 a0002c0003t0001g0095 others(2): Show a0001c0001t0001g0282 a0001c0001t0001g0283 a0002c0003t0001g0095 a0002c0003t0001g0098 a0004c0005t0001g0011	5	118	0.0424	34	c.201 others(53): Show c.2017+5593_2017+5594insTATATATATATATATATATATATATA TATACACA	SLCO6A1	ENSG00000205359.10	transcript	ENST00000506729.6	protein_coding	12/13			chr5	TogoVar
SLCO6A1_chr5_102366774_102504001	102455027	T T	TATATATA others(27): Show TATATATATAAAAATATATATATATATATACATAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03579.hp1 HG03041.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0272 a0001c0001t0001g0273	2	115	0.0174	34	c.113 others(53): Show c.1131+3354_1131+3355insTTATGTATATATATATATATATTTTT ATATATAT	SLCO6A1	ENSG00000205359.10	transcript	ENST00000506729.6	protein_coding	6/13			chr5	TogoVar
SLCO6A1_chr5_102366774_102504001	102455027	T T	TATATATA others(27): Show TATATATATATAAATATATATATATATATACATAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	114	0.0088	34	c.113 others(53): Show c.1131+3354_1131+3355insTTATGTATATATATATATATATTTAT ATATATAT	SLCO6A1	ENSG00000205359.10	transcript	ENST00000506729.6	protein_coding	6/13			chr5	TogoVar
SLFN14_chr17_35538985_35565819	35561745	A A	AAGAAAGA others(27): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG01069.hp1 HG00140.hp1 HG01069.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0008 a0007c0008t0008	a0007c0008t0008g0008 a0007c0008t0008g0008	2	198	0.0101	34	c.-11 others(45): Show c.-1103_-1102insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	SLFN14	ENSG00000236320.4	transcript	ENST00000674182.1	protein_coding		927		chr17	TogoVar
SLIT1_chr10_96993038_97190959	97166569	G G	GAGAGAGA others(27): Show GAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0189 a0001c0001t0002g0189	1	95	0.0105	34	c.198 others(51): Show c.198-1680_198-1679insTTCTTTCTTTCTTTCTTTCTTTCTCTCT CTCTCT	SLIT1	ENSG00000187122.17	transcript	ENST00000266058.9	protein_coding	1/36			chr10	TogoVar
SLIT2_chr4_20246905_20625561	20518557	G G	GTATGTAT others(27): Show GTATGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0042 a0001c0001t0003g0042	1	166	0.0060	34	c.105 others(51): Show c.1059-822_1059-821insGTATATATATATATATATATATATATAT ATATAT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	11/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20518557	G G	GTGTGTGT others(27): Show GTGTGTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0116 a0001c0002t0001g0116	1	166	0.0060	34	c.105 others(51): Show c.1059-824_1059-823insGTGTGTATATATATATATATATATATAT ATATAT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	11/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT3_chr5_168656740_169306139	168897646	G G	GCGCGCGC others(27): Show GCGCGCGCGCGCGCGCGCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	42	0.0238	34	c.414 others(53): Show c.414-14311_414-14310insTGTGTGTGTGTGTGTGTGCGCGCGCG CGCGCGCG	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	168972337	A A	ATGTGTGT others(27): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0050 a0001c0003t0016g0050	1	4	0.2500	34	c.414 others(53): Show c.414-89035_414-89002dupCACACACACACACACACACACACACA CACACACA	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	169079819	A A	AGGAGGGA others(27): Show AGGAGGGAGGAGGAGGAGGGAGGGAGGAGGAGGAG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01081.hp1 HG01109.hp2 others(41): Show HG00408.hp2 HG01081.hp1 HG01109.hp2 HG01167.hp1 HG01192.hp2 HG02015.hp2 HG02055.hp1 HG02145.hp1 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02717.hp1 HG02735.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03486.hp2 HG03516.hp2 HG03834.hp1 HG03927.hp1 HG04115.hp1 NA18974.hp2 NA18989.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19066.hp1 NA19240.hp1 NA20805.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0010 a0015	a0001c0001 a0001c0003 a0001c0004 others(27): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0013 a0001c0015 a0001c0026 a0001c0038 a0001c0040 a0001c0048 a0001c0058 a0002c0002 a0002c0008 a0002c0011 a0002c0012 a0002c0018 a0002c0019 a0002c0021 a0002c0046 a0002c0053 a0002c0061 a0003c0033 a0004c0025 a0004c0039 a0006c0034 a0010c0023 a0015c0028	a0001c0001t0001 a0001c0001t0003 a0001c0003t0004 others(34): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0004 a0001c0004t0005 a0001c0004t0018 a0001c0006t0002 a0001c0006t0009 a0001c0007t0003 a0001c0009t0001 a0001c0009t0012 a0001c0010t0008 a0001c0013t0001 a0001c0015t0006 a0001c0026t0004 a0001c0038t0011 a0001c0040t0001 a0001c0048t0004 a0001c0058t0009 a0002c0002t0005 a0002c0002t0018 a0002c0002t0021 a0002c0002t0023 a0002c0008t0002 a0002c0011t0005 a0002c0012t0004 a0002c0018t0019 a0002c0019t0001 a0002c0021t0002 a0002c0046t0001 a0002c0053t0003 a0002c0061t0011 a0003c0033t0007 a0004c0025t0006 a0004c0039t0006 a0006c0034t0012 a0010c0023t0005 a0015c0028t0006	a0001c0001t0001g0006 a0001c0001t0001g0034 a0001c0001t0001g0090 others(41): Show a0001c0001t0001g0006 a0001c0001t0001g0034 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0003g0106 a0001c0003t0004g0045 a0001c0004t0005g0008 a0001c0004t0018g0102 a0001c0006t0002g0043 a0001c0006t0002g0063 a0001c0006t0009g0113 a0001c0007t0003g0124 a0001c0009t0001g0059 a0001c0009t0012g0035 a0001c0010t0008g0068 a0001c0013t0001g0091 a0001c0013t0001g0094 a0001c0015t0006g0070 a0001c0026t0004g0067 a0001c0038t0011g0066 a0001c0040t0001g0093 a0001c0048t0004g0064 a0001c0058t0009g0097 a0002c0002t0005g0082 a0002c0002t0018g0107 a0002c0002t0021g0038 a0002c0002t0023g0086 a0002c0008t0002g0023 a0002c0011t0005g0065 a0002c0011t0005g0075 a0002c0012t0004g0037 a0002c0018t0019g0126 a0002c0019t0001g0009 a0002c0019t0001g0011 a0002c0021t0002g0061 a0002c0046t0001g0060 a0002c0053t0003g0123 a0002c0061t0011g0051 a0003c0033t0007g0108 a0004c0025t0006g0013 a0004c0039t0006g0087 a0006c0034t0012g0046 a0010c0023t0005g0085 a0015c0028t0006g0014	44	46	0.9565	34	c.413 others(55): Show c.413+113626_413+113659dupCTCCTCCTCCTCCCTCCCTCCTCC TCCTCCCTCC	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLMAP_chr3_57751309_57935003	57906300	C C	CTTTTTTT others(27): Show CTTTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG03239.hp1 NA19066.hp1 HG02056.hp1 HG03239.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0065 a0001c0001t0002g0304 a0001c0001t0002g0034 a0001c0001t0002g0065 a0001c0001t0002g0304	3	243	0.0123	34	c.150 others(53): Show c.1502-1576_1502-1575insCTTTTTCTTTTTTTTTTTTTTTTTTT TTTTTTTT	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLPI_chr20_45247239_45259564	45258267	T T	TATAGATA others(27): Show TATAGATAGATAGATATAGATAGATAGATAGATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	375	0.0027	34	c.-37 others(45): Show c.-3725_-3724insCTATCTATCTATCTATCTATATCTATCTATCTAT	SLPI	ENSG00000124107.5	transcript	ENST00000338380.2	protein_coding		3704		chr20	TogoVar
SLTM_chr15_58874050_58938679	58882181	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18967.hp2 NA19004.hp1 others(1): Show NA18957.hp2 NA18967.hp2 NA19004.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0016 a0001c0001t0002g0274 a0001c0001t0002g0275	4	34	0.1176	34	c.299 others(53): Show c.2996+1444_2996+1445insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	SLTM	ENSG00000137776.17	transcript	ENST00000380516.7	protein_coding	20/20			chr15	TogoVar
SLX1A_chr16_30188875_30202561	30190144	A A	ATATATAT others(27): Show ATATATATTTTAATATATAAATATATTATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 NA18945.hp1 NA18999.hp2 HG02145.hp1 NA18945.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0029 a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0029	3	188	0.0160	34	c.-39 others(45): Show c.-3941_-3940insTATATATTTTAATATATAAATATATTATATATAT	SLX1A	ENSG00000132207.18	transcript	ENST00000251303.11	protein_coding		3730		chr16	TogoVar
SLX1B_chr16_29449533_29463219	29450809	A A	ATATATAT others(27): Show ATATATATTTTAATATATAAATATATTATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	174	0.0057	34	c.-39 others(45): Show c.-3934_-3933insTATATATTTTAATATATAAATATATTATATATAT	SLX1B	ENSG00000181625.18	transcript	ENST00000330181.10	protein_coding		3723		chr16	TogoVar
SLX9_chr21_44935029_44981973	44947533	G G	GTGGCATC others(27): Show GTGGCATCGTTCCTATCCTGTGACTGACAAGTTCA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01168.hp1 HG01169.hp1 others(1): Show HG00140.hp2 HG01168.hp1 HG01169.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0047 a0001c0001t0001g0059 a0001c0001t0001g0021 a0001c0001t0001g0047 a0001c0001t0001g0059	4	322	0.0124	34	c.283 others(51): Show c.283+3746_283+3779dupCCTGTGACTGACAAGTTCATGGCATCGT TCCTAT	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
SMAD2_chr18_47803957_47935659	47850396	T T	TTATATAT others(27): Show TTATATATATTATGTATAATATATATAATATATTA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0238 a0001c0001t0238	a0001c0001t0238g0032 a0001c0001t0238g0032	1	153	0.0065	34	c.784 others(49): Show c.784+877_784+878insTAATATATTATATATATTATACATAATATA TATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850481	T T	TTATATAT others(27): Show TTATATATTATGTATAATATATGTTATATGTATAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03139.hp2 HG03225.hp1 HG02572.hp2 HG03139.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0230 a0001c0001t0034 a0001c0001t0230	a0001c0001t0034g0024 a0001c0001t0034g0026 a0001c0001t0230g0036 a0001c0001t0034g0024 a0001c0001t0034g0026 a0001c0001t0230g0036	3	226	0.0133	34	c.784 others(49): Show c.784+792_784+793insTTATACATATAACATATATTATACATAATA TATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47882041	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	40	0.0250	34	c.237 others(53): Show c.237-11478_237-11477insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	2/10			chr18	TogoVar
SMAGP_chr12_51239558_51275415	51248434	A A	ACACACAC others(27): Show ACACACACACTCTCACTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0243 a0001c0001t0008g0243	1	269	0.0037	34	c.35- others(49): Show c.35-1604_35-1603insAGAGAGAGAGAGAGAGAGAGTGAGAGTGTG TGTG	SMAGP	ENSG00000170545.17	transcript	ENST00000603798.6	protein_coding	2/3			chr12	TogoVar
SMARCA1_chrX_129441506_129528490	129528197	A A	AATTTTGC others(27): Show AATTTTGCAAAACTAGCTCAGGAAAAAAATGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	277	0.0036	34	c.-48 others(45): Show c.-4828_-4827insATCTCATTTTTTTCCTGAGCTAGTTTTGCAAAAT	SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding		4708		chrX	TogoVar
SMARCA2_chr9_2010347_2198620	2046665	C C	CGATAGAG others(27): Show CGATAGAGGTCTGTCCTAAAAGGGCTTCAGATTGG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 NA18945.hp2 others(1): Show HG01257.hp2 HG01258.hp1 NA18945.hp2 NA18962.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 a0001c0001 a0002c0002 a0002c0004	a0001c0001t0001 a0002c0002t0001 a0002c0004t0001 a0001c0001t0001 a0002c0002t0001 a0002c0004t0001	a0001c0001t0001g0074 a0001c0001t0001g0075 a0002c0002t0001g0073 others(1): Show a0001c0001t0001g0074 a0001c0001t0001g0075 a0002c0002t0001g0073 a0002c0004t0001g0050	4	314	0.0127	34	c.791 others(49): Show c.791-537_791-504dupCAGATTGGGATAGAGGTCTGTCCTAAAAGG GCTT	SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	4/33		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMARCC1_chr3_47580269_47786893	47671196	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0106	1	120	0.0083	34	c.184 others(51): Show c.1840-480_1840-479insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	18/27			chr3	TogoVar
SMCHD1_chr18_2650726_2810017	2709232	G G	GTGTATAT others(27): Show GTGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0170 a0001c0002t0002g0170	1	253	0.0040	34	c.226 others(53): Show c.2260+1313_2260+1314insGTATATATATATATATATATATATAT ATATATAT	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	17/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMG7_chr1_183467499_183559191	183477452	A A	ATGTGTGC others(27): Show ATGTGTGCATATGTGTATATATGCATATATACATG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG00438.hp2 others(84): Show HG00140.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00735.hp1 HG01106.hp1 HG01106.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01257.hp2 HG01358.hp2 HG01433.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01993.hp1 HG02027.hp2 HG02074.hp1 HG02080.hp1 HG02132.hp2 HG02148.hp1 HG02165.hp1 HG02257.hp2 HG02273.hp1 HG02293.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02896.hp2 HG03195.hp2 HG03491.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG06807.hp2 NA18612.hp2 NA18943.hp1 NA18948.hp2 NA18951.hp1 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18974.hp1 NA18977.hp2 NA18983.hp1 NA18988.hp2 NA18990.hp1 NA18992.hp2 NA18998.hp1 NA19004.hp2 NA19009.hp1 NA19012.hp1 NA19056.hp1 NA19057.hp1 NA19064.hp2 NA19066.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19076.hp1 NA19081.hp1 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19089.hp2 NA19240.hp2 NA20129.hp1 NA20805.hp2 NA21309.hp2	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0001 a0003c0003 a0010c0009 a0001c0001 a0003c0003 a0010c0009	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(7): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0020 a0001c0001t0022 a0003c0003t0004 a0010c0009t0007	a0001c0001t0003g0002 a0001c0001t0003g0007 a0001c0001t0003g0023 others(81): Show a0001c0001t0003g0002 a0001c0001t0003g0007 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0204 a0001c0001t0003g0208 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0220 a0001c0001t0003g0222 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0229 a0001c0001t0003g0243 a0001c0001t0003g0245 a0001c0001t0003g0250 a0001c0001t0003g0254 a0001c0001t0003g0255 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0263 a0001c0001t0003g0265 a0001c0001t0003g0271 a0001c0001t0003g0280 a0001c0001t0004g0002 a0001c0001t0004g0022 a0001c0001t0004g0192 a0001c0001t0004g0205 a0001c0001t0004g0206 a0001c0001t0004g0217 a0001c0001t0004g0224 a0001c0001t0004g0230 a0001c0001t0004g0232 a0001c0001t0004g0238 a0001c0001t0004g0241 a0001c0001t0004g0242 a0001c0001t0004g0244 a0001c0001t0004g0246 a0001c0001t0004g0251 a0001c0001t0004g0256 a0001c0001t0004g0257 a0001c0001t0004g0261 a0001c0001t0004g0264 a0001c0001t0005g0209 a0001c0001t0005g0223 a0001c0001t0005g0228 a0001c0001t0005g0252 a0001c0001t0005g0253 a0001c0001t0006g0007 a0001c0001t0006g0020 a0001c0001t0006g0022 a0001c0001t0006g0189 a0001c0001t0006g0203 a0001c0001t0006g0207 a0001c0001t0006g0210 a0001c0001t0006g0211 a0001c0001t0006g0215 a0001c0001t0006g0218 a0001c0001t0006g0235 a0001c0001t0006g0236 a0001c0001t0006g0237 a0001c0001t0006g0248 a0001c0001t0006g0249 a0001c0001t0007g0002 a0001c0001t0007g0193 a0001c0001t0007g0216 a0001c0001t0007g0219 a0001c0001t0007g0221 a0001c0001t0007g0239 a0001c0001t0007g0240 a0001c0001t0007g0262 a0001c0001t0009g0020 a0001c0001t0009g0179 a0001c0001t0009g0231 a0001c0001t0020g0007 a0001c0001t0022g0234 a0003c0003t0004g0233 a0010c0009t0007g0197	87	340	0.2559	34	c.29+ others(49): Show c.29+4835_29+4836insTGTGTGTGCATATGTGTATATATGCATATA TACA	SMG7	ENSG00000116698.22	transcript	ENST00000688051.1	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMG7_chr1_183467499_183559191	183477452	A A	ATGTGTGC others(27): Show ATGTGTGCATATGTGTATATATGCATATATGCATG	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA19007.hp1 NA19011.hp2 others(1): Show NA18971.hp1 NA19007.hp1 NA19011.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0013 a0001c0001t0003 a0001c0001t0013	a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0013g0267 others(1): Show a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0013g0267 a0001c0001t0013g0268	4	257	0.0156	34	c.29+ others(49): Show c.29+4832_29+4833insGCATGTGTGTGCATATGTGTATATATGCAT ATAT	SMG7	ENSG00000116698.22	transcript	ENST00000688051.1	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMG7_chr1_183467499_183559191	183477457	T T	TGCATATG others(27): Show TGCATATGTGTATATATGCATATATACATGTGTGC	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0009 a0001c0010t0009	a0001c0010t0009g0202 a0001c0010t0009g0202	1	358	0.0028	34	c.29+ others(49): Show c.29+4835_29+4836insTGTGTGCGCATATGTGTATATATGCATATA TACA	SMG7	ENSG00000116698.22	transcript	ENST00000688051.1	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMG7_chr1_183467499_183559191	183477485	C C	CGTGTGTG others(27): Show CGTGTGTGCATATGTGTATATATGCATATATACAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0191 a0001c0001t0004g0191	1	12	0.0833	34	c.29+ others(49): Show c.29+4869_29+4902dupATGTGTGTGCATATGTGTATATATGCATAT ATAC	SMG7	ENSG00000116698.22	transcript	ENST00000688051.1	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMG7_chr1_183467499_183559191	183477496	A A	ATGTGTAT others(27): Show ATGTGTATATATGCATATATACATGTGTGTGCATG	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0247 a0001c0001t0003g0247	1	358	0.0028	34	c.29+ others(49): Show c.29+4880_29+4881insGTGTGTATATATGCATATATACATGTGTGT GCAT	SMG7	ENSG00000116698.22	transcript	ENST00000688051.1	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMIM17_chr19_56638159_56662247	56647429	G G	GAGAGAGA others(27): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0108 a0001c0001t0002g0108	1	416	0.0024	34	c.170 others(49): Show c.170-107_170-106insAGAGAGAGAGACAGAGAGAGAGAGAGAGAG AGAG	SMIM17	ENSG00000268182.6	transcript	ENST00000598409.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
SMIM36_chr17_55444856_55516452	55501249	T T	TATATTTT others(27): Show TATATTTTATATTTCATAATATATAATATAGTATA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	328	0.0030	34	c.17 others(53): Show c.174+9629_*174+9630insTATACTATATTATATATTATGAAATA TAAAATAT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM3_chr5_150773757_150801734	150797318	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG04199.hp2 HG02683.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0002 a0001c0001t0005g0002	2	170	0.0118	34	c.16 others(45): Show c.1695_*1696insTATATATATATATATATATATATATTTTTTTTTT	SMIM3	ENSG00000256235.3	transcript	ENST00000526627.2	protein_coding		585		chr5	TogoVar
SMIM3_chr5_150773757_150801734	150797318	A A	ATATATAT others(27): Show ATATATATATATATATATATATATTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0019 a0001c0001t0007g0019	1	169	0.0059	34	c.16 others(45): Show c.1695_*1696insTATATATATATATATATATATATTTTTTTTTTTT	SMIM3	ENSG00000256235.3	transcript	ENST00000526627.2	protein_coding		585		chr5	TogoVar
SMIM3_chr5_150773757_150801734	150797318	A A	ATATATAT others(27): Show ATATATATATATATATATATATTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	169	0.0059	34	c.16 others(45): Show c.1695_*1696insTATATATATATATATATATATTTTTTTTTTTTTT	SMIM3	ENSG00000256235.3	transcript	ENST00000526627.2	protein_coding		585		chr5	TogoVar
SMIM3_chr5_150773757_150801734	150797318	A A	ATATATAT others(27): Show ATATATATATATATATATTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	169	0.0059	34	c.16 others(45): Show c.1695_*1696insTATATATATATATATATTTTTTTTTTTTTTTTTT	SMIM3	ENSG00000256235.3	transcript	ENST00000526627.2	protein_coding		585		chr5	TogoVar
SMIM45_chr22_41947150_41963939	41958483	G G	GGAGAGAG others(27): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0010 a0001c0001t0020g0010	1	180	0.0056	34	c.61 others(43): Show c.616_*617insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	SMIM45	ENSG00000205704.9	transcript	ENST00000381348.5	protein_coding	2/2	617	INFO_REALIGN_3_PRIME	chr22	TogoVar
SMIM46_chr19_14107324_14117476	14109999	T T	TATATATA others(27): Show TATATATATATATATACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	233	0.0043	34	c.23 others(45): Show c.2324_*2325insGTGTGTGTGTGTGTGTGTGTATATATATATATAT	SMIM46	ENSG00000289762.1	transcript	ENST00000699221.1	protein_coding		2324		chr19	TogoVar
SMN1_chr5_70920087_70958015	70936151	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	5	0.2000	34	c.82- others(49): Show c.82-2672_82-2671insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	SMN1	ENSG00000172062.17	transcript	ENST00000380707.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SMOC1_chr14_69874416_70037366	69875963	G G	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 NA18940.hp2 NA18993.hp1 HG03704.hp1 NA18940.hp2 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0029 a0001c0001t0001 a0001c0001t0029	a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0029g0021 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0029g0021	3	75	0.0400	34	c.-37 others(45): Show c.-3716_-3715insATATATATATATATATATATATATATATATATAT	SMOC1	ENSG00000198732.11	transcript	ENST00000361956.8	protein_coding		3452		chr14	TogoVar
SMPD2_chr6_109435724_109448919	109448097	G G	GACACACA others(27): Show GACACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01099.hp1 HG01981.hp2 others(5): Show HG00639.hp1 HG01099.hp1 HG01981.hp2 HG02273.hp1 HG02486.hp1 HG02602.hp1 HG02922.hp1 HG03139.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0003 a0001c0002 a0003c0003	a0001c0002t0001 a0001c0002t0002 a0003c0003t0002 a0001c0002t0001 a0001c0002t0002 a0003c0003t0002	a0001c0002t0001g0003 a0001c0002t0002g0002 a0003c0003t0002g0001 a0001c0002t0001g0003 a0001c0002t0002g0002 a0003c0003t0002g0001	8	182	0.0440	34	c.41 others(45): Show c.4192_*4193insACACACACACACACACACACACACACACACACAC	SMPD2	ENSG00000135587.9	transcript	ENST00000258052.8	protein_coding		4179		chr6	TogoVar
SMU1_chr9_33036765_33081674	33039536	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG01358.hp2 NA18941.hp2 others(1): Show HG00438.hp1 HG01358.hp2 NA18941.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0014 a0001c0001t0002g0089 a0001c0001t0002g0096 others(1): Show a0001c0001t0002g0014 a0001c0001t0002g0089 a0001c0001t0002g0096 a0001c0001t0005g0294	4	304	0.0132	34	c.77 others(45): Show c.7756_*7757insATATATATATATATATATATATATATATATATAT	SMU1	ENSG00000122692.9	transcript	ENST00000397149.4	protein_coding		2228		chr9	TogoVar
SMURF1_chr7_99022440_99149108	99063257	A A	ATAAGATT others(27): Show ATAAGATTTATATATATATATATATATATAAGATT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0216 a0001c0001t0007g0216	1	256	0.0039	34	c.56- others(49): Show c.56-1421_56-1420insAATCTTATATATATATATATATATATAAAT CTTA	SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding	1/17			chr7	TogoVar
SMYD3_chr1_245744347_246512279	245857516	T T	TGCATAGG others(27): Show TGCATAGGTCTGGTCCTGGATTCTCCCTCTGCTTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00544.hp1 others(41): Show HG00140.hp1 HG00140.hp2 HG00544.hp1 HG00597.hp1 HG00733.hp1 HG00741.hp2 HG01081.hp1 HG01433.hp1 HG01934.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG02004.hp2 HG02109.hp2 HG02132.hp2 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02486.hp2 HG02559.hp1 HG02602.hp2 HG02647.hp1 HG02895.hp1 HG02922.hp1 HG02965.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03491.hp2 HG03579.hp2 HG03831.hp2 HG04115.hp1 HG04115.hp2 NA18962.hp1 NA18963.hp1 NA18984.hp1 NA19030.hp1 NA19030.hp2 NA19057.hp2 NA19086.hp1 NA19086.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0009 a0001c0014 others(3): Show a0001c0002 a0001c0009 a0001c0014 a0002c0004 a0002c0016 a0002c0017	a0001c0002t0001 a0001c0002t0002 a0001c0009t0001 others(5): Show a0001c0002t0001 a0001c0002t0002 a0001c0009t0001 a0001c0014t0002 a0002c0004t0001 a0002c0004t0002 a0002c0016t0001 a0002c0017t0001	a0001c0002t0001g0009 a0001c0002t0001g0012 a0001c0002t0001g0015 others(41): Show a0001c0002t0001g0009 a0001c0002t0001g0012 a0001c0002t0001g0015 a0001c0002t0001g0017 a0001c0002t0001g0022 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0034 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0056 a0001c0002t0001g0062 a0001c0002t0001g0066 a0001c0002t0001g0070 a0001c0002t0001g0072 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0079 a0001c0002t0001g0086 a0001c0002t0002g0010 a0001c0002t0002g0024 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0048 a0001c0002t0002g0052 a0001c0002t0002g0061 a0001c0002t0002g0083 a0001c0009t0001g0002 a0001c0014t0002g0055 a0002c0004t0001g0098 a0002c0004t0001g0107 a0002c0004t0001g0117 a0002c0004t0001g0128 a0002c0004t0001g0132 a0002c0004t0001g0134 a0002c0004t0001g0138 a0002c0004t0001g0143 a0002c0004t0001g0144 a0002c0004t0001g0146 a0002c0004t0001g0149 a0002c0004t0002g0116 a0002c0016t0001g0097 a0002c0017t0001g0139	44	150	0.2933	34	c.107 others(51): Show c.1076+979_1076+980insGAAGCAGAGGGAGAATCCAGGACCAGAC CTATGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245921549	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	10	0.1000	34	c.703 others(51): Show c.703-5910_703-5909insTATATATATATATATATATATATATATA TATATA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	7/11			chr1	TogoVar

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