Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
SASH3_chrX_129774949_129800201	129789168	A A	AGAAAGAA others(16): Show AGAAAGAAAGAAAGAAAGAAAGAG	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	301	0.0033	23	c.300 others(38): Show c.300+591_300+592insGAAAGAAAGAAAGAAAGAAAGAG	SASH3	ENSG00000122122.10	transcript	ENST00000356892.4	protein_coding	3/7			chrX	TogoVar
SATB1_chr3_18340377_18430339	18344358	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 NA18969.hp1 HG00408.hp1 NA18969.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0015 a0001c0005t0015	a0001c0005t0015g0015 a0001c0005t0015g0015	2	64	0.0313	23	c.47 others(34): Show c.4789_*4811dupAAAAAAAAAAAAAAAAAAAAAAA	SATB1	ENSG00000182568.18	transcript	ENST00000338745.11	protein_coding		1018		chr3	TogoVar
SATL1_chrX_85087284_85248779	85118087	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03516.hp1 NA18993.hp2 HG02572.hp1 HG03516.hp1 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0155 a0001c0001t0001g0223 a0001c0001t0001g0149 a0001c0001t0001g0155 a0001c0001t0001g0223	3	136	0.0221	23	c.-31 others(42): Show c.-312-8808_-312-8807insAAAAAAAAAAAAAAAAAAAAAAA	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding	2/7			chrX	TogoVar
SBF2_chr11_9773668_10299219	10166989	A A	ACACACAC others(16): Show ACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	220	0.0045	23	c.141 others(42): Show c.141+26912_141+26913insGTGTGTGTGTGTGTGTGTGTGTG	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	2/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10196866	A A	ATATATAT others(16): Show ATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0192 a0001c0001t0005g0192	1	12	0.0833	23	c.56- others(38): Show c.56-2880_56-2879insAAAAAAAAAAAAATATATATATA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBNO1_chr12_123284109_123369847	123297400	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03654.hp2 NA19012.hp1 HG03654.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0163 a0001c0001t0001g0124 a0001c0001t0001g0163	2	97	0.0206	23	c.403 others(40): Show c.4039+577_4039+578insTTTTTTTTTTTTTTTTTTTTTTT	SBNO1	ENSG00000139697.14	transcript	ENST00000602398.3	protein_coding	31/31			chr12	TogoVar
SBNO1_chr12_123284109_123369847	123307020	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0246 a0001c0002t0002g0246	1	72	0.0139	23	c.363 others(42): Show c.3630+2289_3630+2290insTTTTTTTTTTTTTTTTTTTTTTT	SBNO1	ENSG00000139697.14	transcript	ENST00000602398.3	protein_coding	28/31			chr12	TogoVar
SBNO2_chr19_1102638_1179268	1161261	C C	CCTGAGCA others(16): Show CCTGAGCACTGGGGGTGGGGGTGT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp2 HG00621.hp2 others(2): Show HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp1 NA18983.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0009 a0001c0001 a0002c0003 a0003c0009	a0001c0001t0001 a0002c0003t0001 a0003c0009t0001 a0001c0001t0001 a0002c0003t0001 a0003c0009t0001	a0001c0001t0001g0129 a0001c0001t0001g0136 a0001c0001t0001g0137 others(2): Show a0001c0001t0001g0129 a0001c0001t0001g0136 a0001c0001t0001g0137 a0002c0003t0001g0041 a0003c0009t0001g0141	5	201	0.0249	23	c.-12 others(42): Show c.-126-6860_-126-6859insACACCCCCACCCCCAGTGCTCAG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SBSPON_chr8_73059543_73098172	73067607	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03098.hp1 HG02622.hp1 HG03098.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0006 a0006c0007t0006	a0006c0007t0006g0022 a0006c0007t0006g0022	2	259	0.0077	23	c.678 others(38): Show c.678-150_678-149insATATATATATATATATATATATA	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SCAF1_chr19_49637209_49663642	49660028	C C	CACACACA others(16): Show CACACACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0038 a0001c0002t0002g0038	1	246	0.0041	23	c.16 others(34): Show c.1629_*1630insACACACACACACACACACACACA	SCAF1	ENSG00000126461.15	transcript	ENST00000360565.8	protein_coding		1387		chr19	TogoVar
SCAF4_chr21_31666000_31737118	31688114	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	28	0.0357	23	c.204 others(40): Show c.2043+170_2043+192dupTTTTTTTTTTTTTTTTTTTTTTT	SCAF4	ENSG00000156304.15	transcript	ENST00000286835.12	protein_coding	16/19			chr21	TogoVar
SCAF8_chr6_154728416_154839221	154733224	G G	GCGAGGCG others(16): Show GCGAGGCGCGGGCGGCCCCGGAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	280	0.0036	23	c.-67 others(32): Show c.-677_-676insCGAGGCGCGGGCGGCCCCGGAGC	SCAF8	ENSG00000213079.10	transcript	ENST00000367178.8	protein_coding		191		chr6	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA19005.hp1 HG02523.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0154 a0001c0001t0003g0164 a0001c0001t0003g0154 a0001c0001t0003g0164	2	50	0.0400	23	c.98+ others(40): Show c.98+36510_98+36511insATATATATTTTTTTTTTTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA18966.hp1 HG01081.hp2 NA18966.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0227 a0002c0002t0001g0249 a0002c0002t0001g0227 a0002c0002t0001g0249	2	50	0.0400	23	c.98+ others(40): Show c.98+36510_98+36511insATATATATATTTTTTTTTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA19005.hp2 HG02056.hp2 NA19005.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0007 a0002c0002t0001 a0001c0001t0007 a0002c0002t0001	a0001c0001t0007g0290 a0002c0002t0001g0241 a0001c0001t0007g0290 a0002c0002t0001g0241	2	50	0.0400	23	c.98+ others(40): Show c.98+36510_98+36511insATATATATATATTTTTTTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(16): Show AAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01074.hp2 HG01884.hp1 others(1): Show HG01071.hp1 HG01074.hp2 HG01884.hp1 HG02129.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0002 a0001c0006 a0002c0002	a0001c0006t0041 a0002c0002t0001 a0002c0002t0014 a0001c0006t0041 a0002c0002t0001 a0002c0002t0014	a0001c0006t0041g0135 a0002c0002t0001g0255 a0002c0002t0001g0273 others(1): Show a0001c0006t0041g0135 a0002c0002t0001g0255 a0002c0002t0001g0273 a0002c0002t0014g0234	4	52	0.0769	23	c.98+ others(40): Show c.98+36510_98+36511insATATATATATATATTTTTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(16): Show AAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0218 a0002c0002t0001g0218	1	49	0.0204	23	c.98+ others(40): Show c.98+36510_98+36511insATATATATATATATATTTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0265 a0002c0002t0001g0265	1	49	0.0204	23	c.98+ others(40): Show c.98+36510_98+36511insATATATATATATATATATTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAMP1_chr5_78355617_78485739	78460792	C C	CTTTCTTT others(16): Show CTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0303 a0001c0001t0003g0303	1	314	0.0032	23	c.852 others(40): Show c.852+1430_852+1431insTTTCTTTCTTTCTTTCTTTCTTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8			chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460800	C C	CTTTCTTT others(16): Show CTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0300 a0001c0001t0003g0300	1	265	0.0038	23	c.852 others(40): Show c.852+1438_852+1439insTTTCTTTCTTTCTTTCTTTCTTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8			chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460804	C C	CTTTCTTT others(16): Show CTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG03098.hp1 NA19090.hp1 HG02056.hp1 HG03098.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0265 a0001c0001t0003g0283 a0001c0001t0003g0320 a0001c0001t0003g0265 a0001c0001t0003g0283 a0001c0001t0003g0320	3	266	0.0113	23	c.852 others(40): Show c.852+1442_852+1443insTTTCTTTCTTTCTTTCTTTCTTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8			chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460808	C C	CTTTCTTT others(16): Show CTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18988.hp2 NA18968.hp1 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0014 a0001c0001t0003 a0001c0001t0014	a0001c0001t0003g0315 a0001c0001t0014g0290 a0001c0001t0003g0315 a0001c0001t0014g0290	2	252	0.0079	23	c.852 others(40): Show c.852+1446_852+1447insTTTCTTTCTTTCTTTCTTTCTTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8			chr5	TogoVar
SCAMP2_chr15_74838730_74878365	74874661	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 NA18970.hp2 HG00099.hp1 NA18970.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0004 a0003c0005t0003 a0001c0001t0004 a0003c0005t0003	a0001c0001t0004g0297 a0003c0005t0003g0019 a0001c0001t0004g0297 a0003c0005t0003g0019	2	135	0.0148	23	c.-14 others(34): Show c.-1407_-1406insATATATATATATTTTTTTTTTTT	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding		1297		chr15	TogoVar
SCAMP2_chr15_74838730_74878365	74874661	A A	AAAAAAAA others(16): Show AAAAAAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG02523.hp2 HG01123.hp1 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0003 a0001c0001t0012	a0001c0001t0003g0328 a0001c0001t0012g0279 a0001c0001t0003g0328 a0001c0001t0012g0279	2	135	0.0148	23	c.-14 others(34): Show c.-1407_-1406insATATATATATATATTTTTTTTTT	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding		1297		chr15	TogoVar
SCAMP2_chr15_74838730_74878365	74874661	A A	AAAAAAAA others(16): Show AAAAAAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0293 a0001c0001t0005g0293	1	134	0.0075	23	c.-14 others(34): Show c.-1407_-1406insATATATATATATATATTTTTTTT	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding		1297		chr15	TogoVar
SCAMP3_chr1_155250981_155267360	155252722	A A	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	161	0.0062	23	c.35 others(34): Show c.3550_*3551insAAAAAAATATATATATATATATA	SCAMP3	ENSG00000116521.11	transcript	ENST00000302631.8	protein_coding		3258		chr1	TogoVar
SCAMP4_chr19_1900399_1931013	1906865	A A	AATTGTGT others(16): Show AATTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp2 NA18967.hp1 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0027 a0001c0001t0001 a0001c0001t0027	a0001c0001t0001g0041 a0001c0001t0027g0040 a0001c0001t0001g0041 a0001c0001t0027g0040	2	427	0.0047	23	c.-42 others(40): Show c.-42+1426_-42+1427insATTGTGTGTGTGTGTGTGTGTGT	SCAMP4	ENSG00000227500.11	transcript	ENST00000316097.13	protein_coding	1/6			chr19	TogoVar
SCAP_chr3_47408681_47480941	47473080	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02148.hp2 HG02451.hp1 others(8): Show HG01123.hp2 HG02148.hp2 HG02451.hp1 HG02572.hp2 HG02717.hp1 HG03492.hp1 HG03654.hp1 NA18952.hp2 NA18988.hp2 NA19001.hp2 NA19030.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0017 a0001c0001 a0011c0017	a0001c0001t0001 a0001c0001t0003 a0011c0017t0001 a0001c0001t0001 a0001c0001t0003 a0011c0017t0001	a0001c0001t0001g0004 a0001c0001t0001g0043 a0001c0001t0001g0044 others(8): Show a0001c0001t0001g0004 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0003g0258 a0001c0001t0003g0259 a0011c0017t0001g0260	11	37	0.2973	23	c.-99 others(40): Show c.-99+2718_-99+2719insTTTTTTTTTTTTTTTTTTTTTTT	SCAP	ENSG00000114650.21	transcript	ENST00000265565.10	protein_coding	1/22			chr3	TogoVar
SCARA3_chr8_27628902_27678018	27668546	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	240	0.0042	23	c.137 others(42): Show c.1370-2338_1370-2337insAAAAAAAAAAAAAAAAAAAAAAA	SCARA3	ENSG00000168077.14	transcript	ENST00000301904.4	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
SCD5_chr4_82624539_82803796	82679211	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAGAGAAAG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG06807.hp1 HG04115.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0024 a0001c0001t0001g0015 a0001c0001t0001g0024	2	95	0.0211	23	c.569 others(40): Show c.569+1495_569+1496insCTTTCTCTCTTTCTTTCTTTCTT	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	3/4			chr4	TogoVar
SCEL_chr13_77530706_77650263	77633442	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01071.hp1 HG01496.hp2 others(3): Show HG00735.hp2 HG01071.hp1 HG01496.hp2 HG03130.hp2 NA19056.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0002c0001 a0003c0005 a0001c0004 a0002c0001 a0003c0005	a0001c0004t0002 a0002c0001t0001 a0002c0001t0002 others(1): Show a0001c0004t0002 a0002c0001t0001 a0002c0001t0002 a0003c0005t0002	a0001c0004t0002g0113 a0001c0004t0002g0126 a0001c0004t0002g0139 others(3): Show a0001c0004t0002g0113 a0001c0004t0002g0126 a0001c0004t0002g0139 a0002c0001t0001g0306 a0002c0001t0002g0268 a0003c0005t0002g0044	6	107	0.0561	23	c.169 others(40): Show c.1692-935_1692-913dupAAAAAAAAAAAAAAAAAAAAAAA	SCEL	ENSG00000136155.17	transcript	ENST00000349847.4	protein_coding	28/32		INFO_REALIGN_3_PRIME	chr13	TogoVar
SCFD2_chr4_52867982_53371061	53007305	G G	GAGAGAGA others(16): Show GAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0111 a0002c0002t0001g0111	1	48	0.0208	23	c.156 others(44): Show c.1562-86436_1562-86435insTCTCTCTCTCTCTCTCTCTCTCT	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	5/8			chr4	TogoVar
SCHIP1_chr3_159268244_159902359	159668376	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02486.hp2 HG02723.hp2 others(1): Show HG01243.hp2 HG02486.hp2 HG02723.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0038 a0001c0001t0001g0060 a0001c0002t0001g0017 others(1): Show a0001c0001t0001g0038 a0001c0001t0001g0060 a0001c0002t0001g0017 a0001c0002t0001g0085	4	70	0.0571	23	c.64- others(40): Show c.64-96047_64-96046insAAAAAAAAAAAAAAAAAAAAAAA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159843001	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	5	0.2000	23	c.760 others(42): Show c.760-23156_760-23134dupTTTTTTTTTTTTTTTTTTTTTTT	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCIN_chr7_12565720_12665182	12578909	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG03225.hp2 NA18942.hp1 HG02165.hp2 HG03225.hp2 NA18942.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0006 a0001c0001t0001 a0002c0003t0006	a0001c0001t0001g0026 a0001c0001t0001g0027 a0002c0003t0006g0236 a0001c0001t0001g0026 a0001c0001t0001g0027 a0002c0003t0006g0236	3	168	0.0179	23	c.354 others(38): Show c.354+706_354+707insTTTTTTTTTTTTTTTTTTTTTTT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
SCLT1_chr4_128878993_129098539	128975040	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01255.hp1 HG01934.hp2 others(22): Show HG01070.hp2 HG01255.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp2 HG01993.hp1 HG02015.hp2 HG02083.hp2 HG02273.hp2 HG02280.hp2 HG03516.hp1 HG03688.hp2 NA18941.hp2 NA18948.hp1 NA18963.hp2 NA18970.hp1 NA18982.hp1 NA18983.hp1 NA19005.hp2 NA19010.hp1 NA19062.hp1 NA19064.hp2 NA19081.hp2 NA19084.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0011 a0001c0001 a0001c0008 a0001c0011	a0001c0001t0001 a0001c0008t0001 a0001c0011t0010 a0001c0001t0001 a0001c0008t0001 a0001c0011t0010	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0187 others(20): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0223 a0001c0001t0001g0226 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0247 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0264 a0001c0008t0001g0198 a0001c0011t0010g0284	25	102	0.2451	23	c.687 others(40): Show c.687-4573_687-4572insAAAAAAAAAAAAAAAAAAAAAAA	SCLT1	ENSG00000151466.12	transcript	ENST00000281142.10	protein_coding	9/20			chr4	TogoVar
SCMH1_chr1_41022202_41247306	41244447	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00597.hp1 NA18950.hp1 HG00423.hp1 HG00597.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0005 a0001c0001t0009	a0001c0001t0005g0290 a0001c0001t0005g0291 a0001c0001t0009g0005 a0001c0001t0005g0290 a0001c0001t0005g0291 a0001c0001t0009g0005	3	162	0.0185	23	c.-25 others(34): Show c.-2507_-2506insAAAAAAAAAAAAAAAAAAAAAAA	SCMH1	ENSG00000010803.17	transcript	ENST00000695335.1	protein_coding		2142		chr1	TogoVar
SCML4_chr6_107697154_107829313	107778222	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02257.hp2 HG01433.hp1 HG02257.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0004 a0001c0003 a0002c0004	a0001c0003t0012 a0002c0004t0009 a0001c0003t0012 a0002c0004t0009	a0001c0003t0012g0137 a0002c0004t0009g0176 a0001c0003t0012g0137 a0002c0004t0009g0176	2	175	0.0114	23	c.-59 others(40): Show c.-59-5837_-59-5836insATATATATATATTTTTTTTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCN10A_chr3_38691807_38821217	38736963	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01070.hp2 HG01071.hp2	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0002 a0001c0032t0002	a0001c0032t0002g0003 a0001c0032t0002g0003	2	128	0.0156	23	c.228 others(42): Show c.2280+2529_2280+2551dupAAAAAAAAAAAAAAAAAAAAAAA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	15/27			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38950066	C C	CACCCCCC others(16): Show CACCCCCCCCCCACCCCCCCCCCA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01517.hp2 HG01192.hp1 HG01517.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0289 a0001c0006t0003g0297 a0001c0006t0003g0289 a0001c0006t0003g0297	2	293	0.0068	23	c.267 others(36): Show c.267+29_267+30insTGGGGGGGGGGTGGGGGGGGGGT	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	5/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38950067	C C	CACCCCCC others(16): Show CACCCCCCCCCCACCCCCCCCCCA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0311 a0001c0006t0001g0311	1	275	0.0036	23	c.267 others(36): Show c.267+28_267+29insTGGGGGGGGGGTGGGGGGGGGGT	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	5/29			chr3	TogoVar
SCN1A_chr2_165980813_166133020	166118298	G G	GCTTCTTT others(16): Show GCTTCTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02559.hp2 HG02886.hp1 others(2): Show HG01891.hp1 HG02559.hp2 HG02886.hp1 HG03486.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0026 a0001c0001t0006 a0001c0001t0026	a0001c0001t0006g0285 a0001c0001t0006g0288 a0001c0001t0006g0289 others(2): Show a0001c0001t0006g0285 a0001c0001t0006g0288 a0001c0001t0006g0289 a0001c0001t0006g0291 a0001c0001t0026g0287	5	252	0.0198	23	c.-14 others(42): Show c.-142+8625_-142+8626insAAAAAAAAAAAAAAAAAAAGAAG	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	2/28			chr2	TogoVar
SCN2B_chr11_118157806_118181639	118178899	A A	ATTATTAT others(16): Show ATTATTATTATTATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0219 a0001c0001t0024g0219	1	187	0.0053	23	c.-24 others(34): Show c.-2469_-2468insAAAAAAAAAAATAATAATAATAA	SCN2B	ENSG00000149575.9	transcript	ENST00000278947.6	protein_coding		2261		chr11	TogoVar
SCN3A_chr2_165082526_165209050	165166403	T T	TCAATTCT others(16): Show TCAATTCTGTCTATGTCACAGGAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG00544.hp2 others(98): Show HG00140.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00642.hp1 HG00673.hp2 HG00741.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01255.hp1 HG01361.hp1 HG01433.hp1 HG01515.hp2 HG01517.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp2 HG01981.hp1 HG02015.hp1 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02145.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02615.hp1 HG02647.hp2 HG02735.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03831.hp1 HG04184.hp1 NA18612.hp2 NA18906.hp2 NA18942.hp1 NA18944.hp1 NA18946.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18953.hp1 NA18959.hp1 NA18961.hp2 NA18963.hp1 NA18964.hp1 NA18968.hp2 NA18978.hp2 NA18981.hp1 NA18990.hp1 NA18993.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19003.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19064.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19072.hp2 NA19074.hp2 NA19083.hp1 NA19085.hp2 NA19089.hp1 NA19091.hp1 NA20129.hp1 NA20300.hp1 NA21309.hp1	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0011 a0012	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0011 a0001c0014 a0001c0017 a0001c0026 a0001c0029 a0002c0006 a0002c0015 a0002c0032 a0002c0033 a0006c0023 a0011c0024 a0012c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0015 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0002t0014 a0001c0003t0001 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0006 a0001c0004t0009 a0001c0005t0002 a0001c0011t0001 a0001c0011t0003 a0001c0014t0001 a0001c0017t0004 a0001c0026t0012 a0001c0029t0001 a0002c0006t0002 a0002c0006t0004 a0002c0006t0010 a0002c0015t0001 a0002c0032t0004 a0002c0033t0004 a0006c0023t0001 a0011c0024t0001 a0012c0021t0001	a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0071 others(97): Show a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0175 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0002g0029 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0004g0020 a0001c0001t0015g0070 a0001c0002t0001g0128 a0001c0002t0002g0055 a0001c0002t0005g0307 a0001c0002t0007g0301 a0001c0002t0014g0073 a0001c0003t0001g0115 a0001c0003t0001g0119 a0001c0004t0001g0074 a0001c0004t0002g0026 a0001c0004t0002g0039 a0001c0004t0002g0043 a0001c0004t0002g0045 a0001c0004t0004g0008 a0001c0004t0006g0044 a0001c0004t0006g0046 a0001c0004t0006g0054 a0001c0004t0009g0009 a0001c0005t0002g0001 a0001c0005t0002g0038 a0001c0005t0002g0040 a0001c0005t0002g0041 a0001c0005t0002g0056 a0001c0011t0001g0090 a0001c0011t0003g0292 a0001c0011t0003g0293 a0001c0011t0003g0295 a0001c0014t0001g0172 a0001c0014t0001g0173 a0001c0017t0004g0021 a0001c0026t0012g0023 a0001c0029t0001g0129 a0002c0006t0002g0036 a0002c0006t0002g0037 a0002c0006t0004g0010 a0002c0006t0004g0012 a0002c0006t0004g0014 a0002c0006t0004g0015 a0002c0006t0004g0016 a0002c0006t0004g0018 a0002c0006t0010g0013 a0002c0015t0001g0206 a0002c0015t0001g0207 a0002c0032t0004g0017 a0002c0033t0004g0011 a0006c0023t0001g0111 a0011c0024t0001g0076 a0012c0021t0001g0103	101	312	0.3237	23	c.474 others(40): Show c.474-1884_474-1883insTTCCTGTGACATAGACAGAATTG	SCN3A	ENSG00000153253.20	transcript	ENST00000283254.12	protein_coding	5/27			chr2	TogoVar
SCN3B_chr11_123624188_123659624	123644800	A A	AGAGAGAG others(16): Show AGAGAGAGAGAGAGAGAGAGATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0117 a0001c0001t0023g0117	1	247	0.0040	23	c.219 others(38): Show c.219+786_219+787insATATCTCTCTCTCTCTCTCTCTC	SCN3B	ENSG00000166257.10	transcript	ENST00000299333.8	protein_coding	3/6			chr11	TogoVar
SCN7A_chr2_166398573_166499249	166414897	T T	TTATATAC others(16): Show TTATATACGATAATATATAATATA	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA18612.hp1 NA19003.hp1 HG02129.hp2 NA18612.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0017 a0001c0001t0002 a0001c0001t0017	a0001c0001t0002g0013 a0001c0001t0017g0223 a0001c0001t0002g0013 a0001c0001t0017g0223	3	347	0.0086	23	c.341 others(42): Show c.3415-1777_3415-1776insTATATTATATATTATCGTATATA	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25			chr2	TogoVar
SCN7A_chr2_166398573_166499249	166414897	T T	TTATATAG others(16): Show TTATATAGGATAATATATAATATA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp2 HG01496.hp1 others(28): Show HG01261.hp1 HG01261.hp2 HG01496.hp1 HG02071.hp2 HG02135.hp1 HG02293.hp1 HG02738.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03471.hp1 HG03516.hp2 NA18949.hp1 NA18952.hp2 NA18964.hp2 NA18980.hp2 NA18984.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19010.hp2 NA19056.hp2 NA19062.hp2 NA19063.hp1 NA19065.hp1 NA19080.hp2 NA19082.hp2 NA19086.hp1 NA19088.hp2 NA19090.hp2 NA20129.hp2	a0001 a0005 a0008 others(3): Show a0001 a0005 a0008 a0014 a0025 a0028	a0001c0001 a0001c0009 a0001c0028 others(5): Show a0001c0001 a0001c0009 a0001c0028 a0005c0005 a0008c0008 a0014c0016 a0025c0033 a0028c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0032 a0001c0009t0002 a0001c0028t0003 a0005c0005t0031 a0008c0008t0001 a0014c0016t0035 a0014c0016t0036 a0025c0033t0008 a0028c0023t0002	a0001c0001t0001g0099 a0001c0001t0001g0218 a0001c0001t0001g0342 others(28): Show a0001c0001t0001g0099 a0001c0001t0001g0218 a0001c0001t0001g0342 a0001c0001t0001g0354 a0001c0001t0002g0219 a0001c0001t0002g0255 a0001c0001t0003g0340 a0001c0001t0003g0348 a0001c0001t0003g0353 a0001c0001t0003g0360 a0001c0001t0007g0227 a0001c0001t0007g0228 a0001c0001t0007g0229 a0001c0001t0007g0260 a0001c0001t0010g0359 a0001c0001t0015g0355 a0001c0001t0015g0356 a0001c0001t0016g0351 a0001c0001t0016g0352 a0001c0001t0017g0256 a0001c0001t0020g0361 a0001c0001t0020g0362 a0001c0001t0032g0213 a0001c0009t0002g0070 a0001c0028t0003g0343 a0005c0005t0031g0043 a0008c0008t0001g0084 a0014c0016t0035g0357 a0014c0016t0036g0358 a0025c0033t0008g0364 a0028c0023t0002g0246	31	375	0.0827	23	c.341 others(42): Show c.3415-1777_3415-1776insTATATTATATATTATCCTATATA	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25			chr2	TogoVar
SCN9A_chr2_166190185_166380944	166199975	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0188 a0001c0002t0001g0188	1	20	0.0500	23	c.477 others(40): Show c.4775-134_4775-112dupAAAAAAAAAAAAAAAAAAAAAAA	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	26/26			chr2	TogoVar
SCNN1A_chr12_6341847_6380563	6369258	G G	GCTGCCAC others(16): Show GCTGCCACCCTACACGCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp2 HG03130.hp2 HG02055.hp1 HG02109.hp2 HG03130.hp2	a0003 a0006 a0003 a0006	a0003c0003 a0006c0026 a0003c0003 a0006c0026	a0003c0003t0001 a0006c0026t0003 a0003c0003t0001 a0006c0026t0003	a0003c0003t0001g0168 a0003c0003t0001g0245 a0006c0026t0003g0109 a0003c0003t0001g0168 a0003c0003t0001g0245 a0006c0026t0003g0109	3	449	0.0067	23	c.416 others(40): Show c.416+5087_416+5109dupGAGGGAGGCGTGTAGGGTGGCAG	SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	2/12			chr12	TogoVar
SCNN1A_chr12_6341847_6380563	6369294	T T	TCACCTCC others(16): Show TCACCTCCCTCCTGCCACCCTACG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG01175.hp1 others(23): Show HG00323.hp2 HG00408.hp2 HG01175.hp1 HG01257.hp1 HG01934.hp2 HG01978.hp2 HG01993.hp1 HG02135.hp2 HG02293.hp1 HG02615.hp2 HG02647.hp2 HG02723.hp1 HG03453.hp1 HG03688.hp2 HG04228.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18945.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA19064.hp1 NA19082.hp1 NA19082.hp2 NA19240.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0014 a0017	a0001c0001 a0002c0002 a0003c0003 others(4): Show a0001c0001 a0002c0002 a0003c0003 a0003c0010 a0005c0013 a0014c0020 a0017c0019	a0001c0001t0001 a0001c0001t0005 a0001c0001t0016 others(7): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0016 a0002c0002t0001 a0003c0003t0001 a0003c0003t0005 a0003c0010t0001 a0005c0013t0001 a0014c0020t0001 a0017c0019t0001	a0001c0001t0001g0002 a0001c0001t0001g0023 a0001c0001t0001g0172 others(21): Show a0001c0001t0001g0002 a0001c0001t0001g0023 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0216 a0001c0001t0001g0308 a0001c0001t0001g0319 a0001c0001t0001g0329 a0001c0001t0005g0012 a0001c0001t0005g0138 a0001c0001t0016g0176 a0002c0002t0001g0021 a0002c0002t0001g0252 a0002c0002t0001g0293 a0002c0002t0001g0362 a0002c0002t0001g0371 a0002c0002t0001g0399 a0002c0002t0001g0400 a0003c0003t0001g0222 a0003c0003t0005g0139 a0003c0010t0001g0118 a0005c0013t0001g0010 a0014c0020t0001g0303 a0017c0019t0001g0223	26	417	0.0624	23	c.416 others(40): Show c.416+5051_416+5073dupCGTAGGGTGGCAGGAGGGAGGTG	SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	2/12			chr12	TogoVar

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