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
SBNO1_chr12_123284109_123369847	123297400	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0048 a0001c0005t0048	a0001c0005t0048g0106 a0001c0005t0048g0106	1	96	0.0104	38	c.403 others(55): Show c.4039+577_4039+578insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	SBNO1	ENSG00000139697.14	transcript	ENST00000602398.3	protein_coding	31/31			chr12	TogoVar
SBNO2_chr19_1102638_1179268	1134138	C C	CCACAGCT others(31): Show CCACAGCTCACGGGTGGACTCACAGCTCACGGGTGGACT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01081.hp1 HG01346.hp2 others(3): Show HG00733.hp2 HG01081.hp1 HG01346.hp2 HG01496.hp1 NA19005.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0028 a0001c0001 a0001c0002 a0001c0028	a0001c0001t0001 a0001c0002t0001 a0001c0028t0001 a0001c0001t0001 a0001c0002t0001 a0001c0028t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0190 others(3): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0002t0001g0088 a0001c0028t0001g0191	6	163	0.0368	38	c.280 others(55): Show c.280-6411_280-6374dupAGTCCACCCGTGAGCTGTGAGTCCACCC GTGAGCTGTG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	4/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1150481	T T	TGCCCCCA others(31): Show TGCCCCCACGGTCACGGGGGAGACCCTGCCGTCACGGAC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01891.hp2 HG02451.hp1 others(7): Show HG01106.hp2 HG01891.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02809.hp1 HG02922.hp2 HG03130.hp2 HG03579.hp2 NA19030.hp2	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0004 a0001c0007 a0001c0010 others(3): Show a0001c0004 a0001c0007 a0001c0010 a0001c0011 a0004c0012 a0008c0031	a0001c0004t0001 a0001c0004t0011 a0001c0007t0001 others(4): Show a0001c0004t0001 a0001c0004t0011 a0001c0007t0001 a0001c0010t0001 a0001c0011t0001 a0004c0012t0007 a0008c0031t0001	a0001c0004t0001g0001 a0001c0004t0001g0036 a0001c0004t0001g0038 others(7): Show a0001c0004t0001g0001 a0001c0004t0001g0036 a0001c0004t0001g0038 a0001c0004t0001g0154 a0001c0004t0011g0194 a0001c0007t0001g0177 a0001c0010t0001g0022 a0001c0011t0001g0037 a0004c0012t0007g0195 a0008c0031t0001g0196	10	202	0.0495	38	c.94- others(53): Show c.94-1077_94-1040dupGTCCGTGACGGCAGGGTCTCCCCCGTGACC GTGGGGGC	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	2/31			chr19	TogoVar
SBSN_chr19_35518367_35533311	35520356	C C	CTATATAT others(31): Show CTATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0031 a0001c0003t0001g0031	1	367	0.0027	38	c.31 others(49): Show c.3153_*3154insTATATATATATATATATATATATATATATATATA TATA	SBSN	ENSG00000189001.11	transcript	ENST00000452271.7	protein_coding		3010		chr19	TogoVar
SBSN_chr19_35518367_35533311	35520356	C C	CTCTATAT others(31): Show CTCTATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0029 a0002c0001t0001g0029	1	367	0.0027	38	c.31 others(49): Show c.3153_*3154insTATATATATATATATATATATATATATATATATA TAGA	SBSN	ENSG00000189001.11	transcript	ENST00000452271.7	protein_coding		3010		chr19	TogoVar
SBSN_chr19_35518367_35533311	35520373	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01169.hp1 NA19043.hp2 others(1): Show HG01168.hp1 HG01169.hp1 NA19043.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0001 a0002c0001t0001 a0001c0003t0001 a0002c0001t0001	a0001c0003t0001g0085 a0002c0001t0001g0002 a0001c0003t0001g0085 a0002c0001t0001g0002	4	385	0.0104	38	c.31 others(49): Show c.3136_*3137insGTATATATATATATATATATATATATATATATAT ATAT	SBSN	ENSG00000189001.11	transcript	ENST00000452271.7	protein_coding		2993		chr19	TogoVar
SBSPON_chr8_73059543_73098172	73067589	C C	CTATATAT others(31): Show CTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0022 a0004c0006t0022	a0004c0006t0022g0084 a0004c0006t0022g0084	1	359	0.0028	38	c.678 others(53): Show c.678-132_678-131insTATATATATATATATATATATATATATATA TATATATA	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SCAF11_chr12_45914131_45995574	45972927	T T	TATATAGA others(31): Show TATATAGATATATAGATATATATATAGATATATATATAG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02922.hp1 HG03225.hp2 HG02630.hp1 HG02922.hp1 HG03225.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0128 a0001c0004t0001g0268 a0001c0004t0001g0269 a0001c0004t0001g0128 a0001c0004t0001g0268 a0001c0004t0001g0269	3	342	0.0088	38	c.-21 others(55): Show c.-21-8740_-21-8739insCTATATATATATCTATATATATATCTAT ATATCTATAT	SCAF11	ENSG00000139218.18	transcript	ENST00000369367.8	protein_coding	1/14			chr12	TogoVar
SCAF11_chr12_45914131_45995574	45973029	G G	GATATAGA others(31): Show GATATAGATATATAGATATATATATAGATATATAGATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0281 a0001c0004t0001g0281	1	342	0.0029	38	c.-21 others(55): Show c.-21-8842_-21-8841insATATCTATATATCTATATATATATCTAT ATATCTATAT	SCAF11	ENSG00000139218.18	transcript	ENST00000369367.8	protein_coding	1/14			chr12	TogoVar
SCAF1_chr19_49637209_49663642	49659984	T T	TACACACA others(31): Show TACACACACACACACATATACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0031 a0001c0002t0002g0031	1	150	0.0067	38	c.15 others(49): Show c.1585_*1586insACACACACACACACATATACACACACACACACAC ACAC	SCAF1	ENSG00000126461.15	transcript	ENST00000360565.8	protein_coding		1343		chr19	TogoVar
SCAF1_chr19_49637209_49663642	49659984	T T	TACACACA others(31): Show TACACACACACACATATACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG03017.hp1 HG04115.hp1 HG01975.hp1 HG03017.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0004t0002 a0001c0002t0002 a0001c0004t0002	a0001c0002t0002g0009 a0001c0002t0002g0059 a0001c0004t0002g0006 a0001c0002t0002g0009 a0001c0002t0002g0059 a0001c0004t0002g0006	3	152	0.0197	38	c.15 others(49): Show c.1585_*1586insACACACACACACATATACACACACACACACACAC ACAC	SCAF1	ENSG00000126461.15	transcript	ENST00000360565.8	protein_coding		1343		chr19	TogoVar
SCAMP1_chr5_78355617_78485739	78439337	T T	TTGCAGTG others(31): Show TTGCAGTGGCTGGTACTGGTTGTTTTTTTCCATGTTTAG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02723.hp1 HG02818.hp1 others(2): Show HG02109.hp2 HG02723.hp1 HG02818.hp1 HG02895.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0007 a0001c0001t0010g0008 a0001c0001t0010g0064 others(2): Show a0001c0001t0010g0007 a0001c0001t0010g0008 a0001c0001t0010g0064 a0001c0001t0010g0065 a0001c0001t0010g0066	5	332	0.0151	38	c.633 others(57): Show c.633-10592_633-10555dupAGTGGCTGGTACTGGTTGTTTTTTTC CATGTTTAGTGC	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP5_chr15_74990563_75026495	74990994	C C	CTTTCTTT others(31): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 NA18952.hp2 HG01358.hp1 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0194 a0001c0001t0001g0102 a0001c0001t0001g0194	2	195	0.0103	38	c.-47 others(49): Show c.-4728_-4727insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTT	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4568		chr15	TogoVar
SCAPER_chr15_76342904_76910340	76428866	C C	CTATATAT others(31): Show CTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0292 a0002c0002t0002g0292	1	76	0.0132	38	c.331 others(57): Show c.3311+5211_3311+5212insTATATATATATATATATATATATATA TATATATATATA	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	26/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76652371	C C	CACACACA others(31): Show CACACACACACACACACACACACACACACATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0288 a0002c0002t0002g0288	1	24	0.0417	38	c.264 others(59): Show c.2645+13281_2645+13282insATATATATATGTGTGTGTGTGTGT GTGTGTGTGTGTGT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	21/31			chr15	TogoVar
SCARF1_chr17_1628858_1650732	1643238	T T	TCCCCGCC others(31): Show TCCCCGCCCACCGGTGTCCGCCCCGCCCACCGGTGTCCG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01952.hp1 HG02258.hp1 HG01167.hp1 HG01952.hp1 HG02258.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0002 a0003c0003t0002 a0001c0001t0001 a0002c0002t0002 a0003c0003t0002	a0001c0001t0001g0175 a0002c0002t0002g0177 a0003c0003t0002g0176 a0001c0001t0001g0175 a0002c0002t0002g0177 a0003c0003t0002g0176	3	284	0.0106	38	c.791 others(53): Show c.791+203_791+204insCGGACACCGGTGGGCGGGGCGGACACCGGT GGGCGGGG	SCARF1	ENSG00000074660.17	transcript	ENST00000263071.9	protein_coding	4/10			chr17	TogoVar
SCART1_chr10_133448945_133474760	133460471	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0004 a0004	a0004c0019 a0004c0019	a0004c0019t0008 a0004c0019t0008	a0004c0019t0008g0135 a0004c0019t0008g0135	1	124	0.0081	38	c.196 others(55): Show c.1969+319_1969+320insATATATATATATATATATATATATATAT ATATATATAT	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
SCART1_chr10_133448945_133474760	133460496	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0004 a0004	a0004c0021 a0004c0021	a0004c0021t0003 a0004c0021t0003	a0004c0021t0003g0100 a0004c0021t0003g0100	1	417	0.0024	38	c.196 others(55): Show c.1969+327_1969+328insATATATATATATATATATATATATATAT ATATATATTT	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
SCART1_chr10_133448945_133474760	133460496	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0003 a0003	a0003c0024 a0003c0024	a0003c0024t0003 a0003c0024t0003	a0003c0024t0003g0103 a0003c0024t0003g0103	1	417	0.0024	38	c.196 others(55): Show c.1969+327_1969+328insATATATATATATATATATATATATATAT ATATATTTTT	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
SCD5_chr4_82624539_82803796	82626118	G G	GAAAGAAA others(31): Show GAAAGAAAGAAAGAAAGAAAGAGAGAGAGAAAGAAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG02109.hp2 HG00642.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0157 a0001c0001t0001g0129 a0001c0001t0001g0157	2	207	0.0097	38	c.52 others(49): Show c.5208_*5209insTTCTTTCTTTCTCTCTCTCTTTCTTTCTTTCTTT CTTT	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding		3420		chr4	TogoVar
SCFD2_chr4_52867982_53371061	53140392	A A	AAAATATA others(31): Show AAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01106.hp1 HG02129.hp1 others(3): Show HG00558.hp2 HG01106.hp1 HG02129.hp1 HG02717.hp2 HG03017.hp1 HG03225.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0007 a0003c0015 others(1): Show a0001c0001 a0001c0007 a0003c0015 a0005c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0007t0001 a0003c0015t0003 a0005c0012t0001	a0001c0001t0001g0052 a0001c0001t0002g0040 a0001c0001t0012g0096 others(3): Show a0001c0001t0001g0052 a0001c0001t0002g0040 a0001c0001t0012g0096 a0001c0007t0001g0035 a0003c0015t0003g0147 a0005c0012t0001g0004	6	14	0.4286	38	c.156 others(57): Show c.1561+4940_1561+4941insATATATATATATATATATATATATAT ATATATATATTT	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	5/8			chr4	TogoVar
SCG3_chr15_51676503_51726026	51704764	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20300.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	2	84	0.0238	38	c.120 others(57): Show c.1207+3551_1207+3552insTATATATATATATATATATATATATA TATATATATATA	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32657199	G G	GTATATAT others(31): Show GTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0388 a0001c0001t0001g0388	1	372	0.0027	38	c.226 others(57): Show c.226+13394_226+13395insATATATATATATATATATATATATAT ATATATATATAT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32657209	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG06807.hp1 HG01934.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0313 a0001c0002t0003g0375 a0001c0001t0001g0313 a0001c0002t0003g0375	2	49	0.0408	38	c.226 others(57): Show c.226+13394_226+13395insATATATATATATATATATATATATAT ATATATATGTAT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32657209	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	48	0.0208	38	c.226 others(57): Show c.226+13394_226+13395insATATATATATATATATATATATATAT ATATGTATGTAT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32657209	A A	ATATATAT others(31): Show ATATATATATATATATGTATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	48	0.0208	38	c.226 others(57): Show c.226+13394_226+13395insATATATATATATGTATATATATATAT ATATATATGTAT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCGB1C1_chr11_188078_199575	196045	A A	AGGACATG others(31): Show AGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00741.hp2 HG01070.hp1 others(18): Show HG00423.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01106.hp2 HG02451.hp1 HG02602.hp1 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18951.hp2 NA18952.hp1 NA18964.hp1 NA18967.hp2 NA18977.hp1 NA18981.hp1 NA18983.hp1 NA18999.hp1 NA19009.hp1 NA19055.hp1 NA20805.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0001 a0002c0001t0002g0006 a0002c0001t0002g0001 a0002c0001t0002g0006	21	353	0.0595	38	c.15 others(49): Show c.1595_*1596insGGACATGGGGGGGACCTTGGTGAGGGGACCTGGT GAGG	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1471		chr11	TogoVar
SCGB1C1_chr11_188078_199575	196351	G G	GGGGACCT others(31): Show GGGGACCTGGTGAGGAGGACATGGGGGGGACCTTGGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0001 a0002c0001t0002g0001	1	354	0.0028	38	c.19 others(49): Show c.1901_*1902insGGGACCTGGTGAGGAGGACATGGGGGGGACCTTG GTGA	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1777		chr11	TogoVar
SCGB2A2_chr11_62265158_62278160	62277869	T T	TCCCCCCC others(31): Show TCCCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	388	0.0026	38	c.48 others(49): Show c.4874_*4875insCCCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCC CCTC	SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding		4710		chr11	TogoVar
SCIN_chr7_12565720_12665182	12578909	G G	GTTTTTTT others(31): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03492.hp1 NA19080.hp1 others(1): Show HG03195.hp2 HG03492.hp1 NA19080.hp1 NA20905.hp2	a0001 a0002 a0017 a0001 a0002 a0017	a0001c0001 a0002c0002 a0017c0022 a0001c0001 a0002c0002 a0017c0022	a0001c0001t0119 a0002c0002t0002 a0017c0022t0034 a0001c0001t0119 a0002c0002t0002 a0017c0022t0034	a0001c0001t0119g0032 a0002c0002t0002g0329 a0002c0002t0002g0330 others(1): Show a0001c0001t0119g0032 a0002c0002t0002g0329 a0002c0002t0002g0330 a0017c0022t0034g0281	4	169	0.0237	38	c.354 others(53): Show c.354+706_354+707insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
SCML2_chrX_18234313_18359688	18315303	G G	GCAGGGAG others(31): Show GCAGGGAGTGGCATCCCTAAATTTGATCACACAGGACCT	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0146 a0001c0002t0001g0146	1	245	0.0041	38	c.486 others(55): Show c.486+4991_486+5028dupAGGTCCTGTGTGATCAAATTTAGGGATG CCACTCCCTG	SCML2	ENSG00000102098.19	transcript	ENST00000251900.9	protein_coding	6/14			chrX	TogoVar
SCML4_chr6_107697154_107829313	107778222	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	174	0.0057	38	c.-59 others(55): Show c.-59-5837_-59-5836insATATATATATATATATATATTTTTTTTT TTTTTTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCN10A_chr3_38691807_38821217	38737830	T T	TTCTTTCT others(31): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0001 a0001c0027t0001	a0001c0027t0001g0021 a0001c0027t0001g0021	1	370	0.0027	38	c.228 others(57): Show c.2280+1684_2280+1685insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	15/27			chr3	TogoVar
SCN10A_chr3_38691807_38821217	38737832	C C	CTTTCTTT others(31): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18953.hp2 HG02027.hp1 NA18953.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0172 a0004c0005t0001g0176 a0004c0005t0001g0172 a0004c0005t0001g0176	2	278	0.0072	38	c.228 others(57): Show c.2280+1682_2280+1683insAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	15/27			chr3	TogoVar
SCN10A_chr3_38691807_38821217	38746063	G G	GTGTATAT others(31): Show GTGTATATATATATGTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02809.hp2 HG02129.hp2 HG02809.hp2	a0002 a0002	a0002c0001 a0002c0040 a0002c0001 a0002c0040	a0002c0001t0001 a0002c0040t0001 a0002c0001t0001 a0002c0040t0001	a0002c0001t0001g0068 a0002c0040t0001g0145 a0002c0001t0001g0068 a0002c0040t0001g0145	2	176	0.0114	38	c.186 others(57): Show c.1868-3535_1868-3534insTATATATATATATATATACACACACA TATATATATACA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	13/27			chr3	TogoVar
SCN10A_chr3_38691807_38821217	38746100	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATCTAG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03098.hp2 HG03540.hp1 HG02615.hp1 HG03098.hp2 HG03540.hp1	a0001 a0024 a0001 a0024	a0001c0003 a0024c0048 a0001c0003 a0024c0048	a0001c0003t0002 a0024c0048t0001 a0001c0003t0002 a0024c0048t0001	a0001c0003t0002g0098 a0001c0003t0002g0103 a0024c0048t0001g0109 a0001c0003t0002g0098 a0001c0003t0002g0103 a0024c0048t0001g0109	3	112	0.0268	38	c.186 others(57): Show c.1868-3572_1868-3571insCTAGATATATATATATATATATATAT ATATATATATAT	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	13/27			chr3	TogoVar
SCN2B_chr11_118157806_118181639	118165380	G G	GCCTCTTG others(31): Show GCCTCTTGCTCCTTCTCTCAGGCCTAATCAATTTCCATT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0211 a0001c0001t0054g0211	1	448	0.0022	38	c.14 others(49): Show c.1469_*1506dupAATGGAAATTGATTAGGCCTGAGAGAAGGAGCAA GAGG	SCN2B	ENSG00000149575.9	transcript	ENST00000278947.6	protein_coding	4/4	1506		chr11	TogoVar
SCN7A_chr2_166398573_166499249	166414103	T T	TTATATAT others(31): Show TTATATATAAATATATATAATATATTATATATATGTAAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02809.hp1 HG01123.hp1 HG02809.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0169 a0003c0003t0001g0134 a0002c0002t0001g0169 a0003c0003t0001g0134	2	338	0.0059	38	c.341 others(56): Show c.3415-1020_3415-983dupTTTACATATATATAATATATTATATAT ATTTATATATA	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25			chr2	TogoVar
SCNN1B_chr16_23297302_23386294	23343609	A A	AAGAAAGA others(31): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0293 a0001c0008t0001g0293	1	303	0.0033	38	c.-8- others(53): Show c.-8-4981_-8-4944dupGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGA	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1B_chr16_23297302_23386294	23365620	A A	AGAAAGAA others(31): Show AGAAAGAAAGAAGAGAGAGAGAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	179	0.0056	38	c.777 others(55): Show c.777-2236_777-2235insGAAAGAAAGAAGAGAGAGAGAGAAAGAA AGAAAGAAAG	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	4/12			chr16	TogoVar
SCNN1B_chr16_23297302_23386294	23379168	G G	GCCAGCCA others(31): Show GCCAGCCATCCTCCACCCATTCATCCTCCATTCTCCCAC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0284	1	303	0.0033	38	c.146 others(55): Show c.1466+426_1466+427insTCCATTCTCCCACCCAGCCATCCTCCAC CCATTCATCC	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1D_chr1_1275436_1297025	1288190	C C	CCCGCTCC others(31): Show CCCGCTCCATTCCCTGTGTCTCTGCCCCGTCCCGTGTCT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0017 a0017	a0017c0038 a0017c0038	a0017c0038t0003 a0017c0038t0003	a0017c0038t0003g0282 a0017c0038t0003g0282	1	284	0.0035	38	c.166 others(55): Show c.1662+177_1662+178insCCCGTCCCGTGTCTCCGCTCCATTCCCT GTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288233	T T	TCCGTCCC others(31): Show TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0110 a0002c0003t0004g0110	1	278	0.0036	38	c.166 others(55): Show c.1662+221_1662+222insCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288240	C C	CGTGTCCC others(31): Show CGTGTCCCTGCTCCGTCCCGTGTCCCCGCTCCATTCCCT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02155.hp1 HG02165.hp1 others(2): Show HG02071.hp1 HG02155.hp1 HG02165.hp1 NA18970.hp2 NA18980.hp1	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0001 a0001c0018 a0003c0004 others(1): Show a0001c0001 a0001c0018 a0003c0004 a0010c0019	a0001c0001t0001 a0001c0018t0001 a0003c0004t0003 others(1): Show a0001c0001t0001 a0001c0018t0001 a0003c0004t0003 a0010c0019t0003	a0001c0001t0001g0251 a0001c0018t0001g0250 a0003c0004t0003g0170 others(2): Show a0001c0001t0001g0251 a0001c0018t0001g0250 a0003c0004t0003g0170 a0003c0004t0003g0171 a0010c0019t0003g0169	5	264	0.0189	38	c.166 others(55): Show c.1662+208_1662+209insCCTGCTCCGTCCCGTGTCCCCGCTCCAT TCCCTGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288347	C C	CCCCGTGT others(31): Show CCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02523.hp1 NA18747.hp2 others(1): Show HG00735.hp1 HG02523.hp1 NA18747.hp2 NA19070.hp2	a0001 a0025 a0001 a0025	a0001c0001 a0025c0041 a0001c0001 a0025c0041	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0025c0041t0001	a0001c0001t0001g0161 a0001c0001t0002g0260 a0001c0001t0005g0209 others(1): Show a0001c0001t0001g0161 a0001c0001t0002g0260 a0001c0001t0005g0209 a0025c0041t0001g0258	4	254	0.0157	38	c.166 others(55): Show c.1662+331_1662+332insCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288442	T T	TGTCTCTG others(31): Show TGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0139 a0003c0004t0003g0139	1	286	0.0035	38	c.166 others(55): Show c.1662+413_1662+414insCCCGTCCCGTGTCTCTGCCCCGTCCCCC GAGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288451	T T	TCCGTCCC others(31): Show TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCC	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0134 a0003c0004t0003g0134	1	240	0.0042	38	c.166 others(55): Show c.1662+421_1662+422insGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCCCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288475	T T	TCCCGTGT others(31): Show TCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0232 a0001c0001t0002g0232	1	262	0.0038	38	c.166 others(55): Show c.1662+451_1662+452insCCCGTCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288621	T T	TCCGTCCC others(31): Show TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03831.hp1 HG02970.hp1 HG03831.hp1	a0002 a0008 a0002 a0008	a0002c0002 a0008c0007 a0002c0002 a0008c0007	a0002c0002t0001 a0008c0007t0004 a0002c0002t0001 a0008c0007t0004	a0002c0002t0001g0001 a0008c0007t0004g0284 a0002c0002t0001g0001 a0008c0007t0004g0284	2	215	0.0093	38	c.166 others(55): Show c.1662+591_1662+592insGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCCCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288737	T T	TCCCGTGT others(31): Show TCCCGTGTCCCTGCCCCGTCCCGTGTCTCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0154 a0003c0004t0003g0154	1	243	0.0041	38	c.166 others(55): Show c.1662+708_1662+709insCCTGCCCCGTCCCGTGTCTCTGCCCCGT CCCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar

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