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
SCG3_chr15_51676503_51726026	51704764	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02257.hp2 HG02293.hp1 others(7): Show HG02027.hp1 HG02257.hp2 HG02293.hp1 HG02622.hp1 HG02723.hp2 HG03831.hp2 NA18522.hp2 NA18963.hp1 NA18971.hp1 NA19091.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0004 a0004c0007 a0001c0001 a0003c0004 a0004c0007	a0001c0001t0001 a0001c0001t0003 a0003c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0003c0004t0001 a0004c0007t0006	a0001c0001t0001g0032 a0001c0001t0001g0218 a0001c0001t0001g0252 others(6): Show a0001c0001t0001g0032 a0001c0001t0001g0218 a0001c0001t0001g0252 a0001c0001t0001g0272 a0001c0001t0001g0275 a0001c0001t0001g0278 a0001c0001t0003g0063 a0003c0004t0001g0221 a0004c0007t0006g0086	10	92	0.1087	22	c.120 others(41): Show c.1207+3530_1207+3551dupTATATATATATATATATATATA	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32657209	A A	ATATATAT others(15): Show ATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01884.hp1 HG02523.hp2 others(1): Show HG01069.hp2 HG01884.hp1 HG02523.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0069 a0001c0001t0001g0238 a0001c0001t0001g0264 others(1): Show a0001c0001t0001g0069 a0001c0001t0001g0238 a0001c0001t0001g0264 a0001c0001t0003g0271	4	51	0.0784	22	c.226 others(41): Show c.226+13394_226+13395insATATATATATATATATATGTAT	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(15): Show ATATATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02572.hp2 HG02809.hp2 others(2): Show HG01168.hp1 HG02572.hp2 HG02809.hp2 HG06807.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0048 a0001c0001t0001g0099 a0001c0001t0001g0106 others(2): Show a0001c0001t0001g0048 a0001c0001t0001g0099 a0001c0001t0001g0106 a0001c0001t0001g0343 a0001c0001t0005g0280	5	52	0.0962	22	c.226 others(41): Show c.226+13394_226+13395insATATATATATATATGTATGTAT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32673527	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0269 a0001c0001t0003g0269	1	21	0.0476	22	c.227 others(39): Show c.227-6224_227-6203dupGTGTGTGTGTGTGTGTGTGTGT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCGB1D2_chr11_62237239_62249812	62237809	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0007 a0002c0003t0002g0007	1	141	0.0071	22	c.-44 others(33): Show c.-4499_-4498insGTGTGTGTGTGTGTGTGTGTGT	SCGB1D2	ENSG00000124935.4	transcript	ENST00000244926.4	protein_coding		4429		chr11	TogoVar
SCGB2A1_chr11_62203673_62218943	62212921	C C	CACACATA others(15): Show CACACATATACACACACATATGT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02572.hp1 HG02818.hp1 others(2): Show HG01243.hp1 HG02572.hp1 HG02818.hp1 HG03209.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0062 a0001c0001t0001g0064 others(1): Show a0001c0001t0001g0031 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065	5	440	0.0114	22	c.244 others(37): Show c.244-800_244-799insTATACACACACATATGTACACA	SCGB2A1	ENSG00000124939.6	transcript	ENST00000244930.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
SCGB2A2_chr11_62265158_62278160	62272042	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	59	0.0169	22	c.244 others(37): Show c.244-894_244-893insAAAAAAAAAAAAAAAAAAAAAA	SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
SCGB2B2_chr19_34585644_34682159	34608660	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00621.hp1 HG01346.hp2 others(30): Show HG00609.hp1 HG00621.hp1 HG01346.hp2 HG01891.hp2 HG01981.hp2 HG02004.hp1 HG02027.hp2 HG02040.hp1 HG02083.hp2 HG02132.hp2 HG02451.hp1 HG02818.hp2 HG03041.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03942.hp2 NA18522.hp2 NA18951.hp1 NA18956.hp2 NA18973.hp2 NA18975.hp1 NA18984.hp1 NA18991.hp1 NA18992.hp1 NA18995.hp1 NA19056.hp2 NA19063.hp2 NA19077.hp2 NA19078.hp1 NA19085.hp1 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(20): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0033 a0001c0001t0039 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0074 a0001c0001t0080 a0001c0001t0082 a0001c0001t0086 a0001c0001t0088 a0001c0001t0093 a0001c0001t0111 a0001c0001t0133 a0002c0002t0004	a0001c0001t0002g0229 a0001c0001t0002g0232 a0001c0001t0002g0255 others(28): Show a0001c0001t0002g0229 a0001c0001t0002g0232 a0001c0001t0002g0255 a0001c0001t0005g0081 a0001c0001t0007g0173 a0001c0001t0007g0192 a0001c0001t0008g0103 a0001c0001t0008g0104 a0001c0001t0011g0113 a0001c0001t0012g0124 a0001c0001t0012g0202 a0001c0001t0014g0012 a0001c0001t0015g0175 a0001c0001t0015g0188 a0001c0001t0018g0010 a0001c0001t0033g0352 a0001c0001t0039g0226 a0001c0001t0039g0228 a0001c0001t0041g0297 a0001c0001t0042g0266 a0001c0001t0043g0303 a0001c0001t0074g0203 a0001c0001t0080g0122 a0001c0001t0082g0185 a0001c0001t0086g0186 a0001c0001t0088g0191 a0001c0001t0093g0217 a0001c0001t0111g0308 a0001c0001t0133g0349 a0002c0002t0004g0164 a0002c0002t0004g0197	33	54	0.6111	22	c.-20 others(45): Show c.-2031-12088_-2031-12067dupATATATATATATATATATATAT	SCGB2B2	ENSG00000205209.8	transcript	ENST00000601241.6	protein_coding	1/3			chr19	TogoVar
SCGB2B2_chr19_34585644_34682159	34608684	T T	TATATATA others(15): Show TATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03704.hp1 NA18906.hp2 HG03704.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0132 a0001c0001t0024 a0001c0001t0132	a0001c0001t0024g0340 a0001c0001t0132g0348 a0001c0001t0024g0340 a0001c0001t0132g0348	2	356	0.0056	22	c.-20 others(45): Show c.-2031-12091_-2031-12090insGTATATATATATATATATATAT	SCGB2B2	ENSG00000205209.8	transcript	ENST00000601241.6	protein_coding	1/3			chr19	TogoVar
SCGB2B2_chr19_34585644_34682159	34608685	A A	ATATATAT others(15): Show ATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0113 a0001c0001t0113	a0001c0001t0113g0312 a0001c0001t0113g0312	1	368	0.0027	22	c.-20 others(45): Show c.-2031-12092_-2031-12091insCATATATATATATATATATATA	SCGB2B2	ENSG00000205209.8	transcript	ENST00000601241.6	protein_coding	1/3			chr19	TogoVar
SCGB2B2_chr19_34585644_34682159	34669714	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG00544.hp2 others(54): Show HG00140.hp1 HG00438.hp2 HG00544.hp2 HG00639.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01168.hp2 HG01169.hp1 HG01258.hp2 HG01975.hp1 HG02004.hp1 HG02040.hp1 HG02083.hp1 HG02132.hp2 HG02155.hp2 HG02300.hp2 HG02698.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02970.hp1 HG03491.hp2 HG03492.hp1 HG03669.hp2 HG03704.hp1 HG04184.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp2 NA18944.hp1 NA18946.hp1 NA18947.hp1 NA18949.hp1 NA18953.hp1 NA18955.hp2 NA18960.hp1 NA18962.hp1 NA18970.hp1 NA18974.hp1 NA18977.hp2 NA18979.hp1 NA18981.hp1 NA18984.hp1 NA18989.hp2 NA18993.hp2 NA18995.hp1 NA19003.hp2 NA19056.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19072.hp2 NA19090.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(22): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0001t0024 a0001c0001t0027 a0001c0001t0031 a0001c0001t0042 a0001c0001t0044 a0001c0001t0050 a0001c0001t0052 a0001c0001t0099 a0001c0001t0106 a0001c0001t0110 a0001c0001t0111 a0001c0001t0127 a0001c0001t0128 a0001c0001t0129 a0001c0001t0130 a0001c0001t0132 a0001c0001t0133 a0001c0001t0135 a0003c0004t0050	a0001c0001t0001g0002 a0001c0001t0003g0270 a0001c0001t0003g0271 others(51): Show a0001c0001t0001g0002 a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0008g0103 a0001c0001t0008g0104 a0001c0001t0013g0108 a0001c0001t0013g0109 a0001c0001t0013g0110 a0001c0001t0013g0111 a0001c0001t0014g0012 a0001c0001t0014g0302 a0001c0001t0014g0305 a0001c0001t0014g0306 a0001c0001t0014g0307 a0001c0001t0019g0023 a0001c0001t0024g0338 a0001c0001t0024g0339 a0001c0001t0024g0340 a0001c0001t0024g0341 a0001c0001t0027g0105 a0001c0001t0027g0106 a0001c0001t0027g0107 a0001c0001t0031g0011 a0001c0001t0031g0277 a0001c0001t0042g0281 a0001c0001t0044g0309 a0001c0001t0044g0310 a0001c0001t0050g0342 a0001c0001t0052g0024 a0001c0001t0099g0212 a0001c0001t0106g0284 a0001c0001t0110g0301 a0001c0001t0111g0308 a0001c0001t0127g0345 a0001c0001t0128g0344 a0001c0001t0129g0343 a0001c0001t0130g0347 a0001c0001t0132g0348 a0001c0001t0133g0349 a0001c0001t0135g0354 a0003c0004t0050g0346	57	126	0.4524	22	c.-20 others(43): Show c.-2032+5915_-2032+5916insGTGTGTGTGTGTGTGTGTGTGT	SCGB2B2	ENSG00000205209.8	transcript	ENST00000601241.6	protein_coding	1/3			chr19	TogoVar
SCGB2B2_chr19_34585644_34682159	34669714	T T	TACACACA others(15): Show TACACACATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18966.hp1 NA18990.hp1 HG02523.hp2 NA18966.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0124 a0001c0001t0049 a0001c0001t0124	a0001c0001t0049g0326 a0001c0001t0049g0327 a0001c0001t0124g0325 a0001c0001t0049g0326 a0001c0001t0049g0327 a0001c0001t0124g0325	3	72	0.0417	22	c.-20 others(43): Show c.-2032+5915_-2032+5916insGTGTGTGTGTGTGTATGTGTGT	SCGB2B2	ENSG00000205209.8	transcript	ENST00000601241.6	protein_coding	1/3			chr19	TogoVar
SCHIP1_chr3_159268244_159902359	159668376	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA20300.hp1 HG02717.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0058 a0001c0002t0001g0079 a0001c0002t0001g0058 a0001c0002t0001g0079	2	68	0.0294	22	c.64- others(39): Show c.64-96047_64-96046insAAAAAAAAAAAAAAAAAAAAAA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159828388	C C	CATATATA others(15): Show CATATATACGTATATATATACGT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	50	0.0200	22	c.760 others(41): Show c.760-37723_760-37702dupCGTATATATATACGTATATATA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCIMP_chr17_5203920_5239860	5227292	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0321 a0001c0001t0001g0321	1	58	0.0172	22	c.22- others(37): Show c.22-3858_22-3837dupGTGTGTGTGTGTGTGTGTGTGT	SCIMP	ENSG00000161929.15	transcript	ENST00000574081.6	protein_coding	1/4			chr17	TogoVar
SCIN_chr7_12565720_12665182	12657572	A A	ATATATAT others(15): Show ATATATATATATATATATTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	182	0.0055	22	c.48 others(33): Show c.4858_*4859insATATATATATATATATTTTTTT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	16/16	4859	INFO_REALIGN_3_PRIME	chr7	TogoVar
SCLT1_chr4_128878993_129098539	128975040	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00642.hp2 others(6): Show HG00099.hp1 HG00280.hp2 HG00642.hp2 HG01192.hp1 HG01358.hp1 HG02109.hp1 HG02280.hp1 HG03017.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 others(6): Show a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0234 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0266	9	86	0.1047	22	c.687 others(39): Show c.687-4573_687-4572insAAAAAAAAAAAAAAAAAAAAAA	SCLT1	ENSG00000151466.12	transcript	ENST00000281142.10	protein_coding	9/20			chr4	TogoVar
SCMH1_chr1_41022202_41247306	41087937	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02055.hp1 HG02056.hp2 others(13): Show HG00423.hp2 HG02055.hp1 HG02056.hp2 HG02080.hp1 HG02135.hp1 HG03041.hp2 HG03471.hp1 HG03579.hp1 HG04115.hp2 HG04184.hp2 NA18953.hp2 NA18971.hp1 NA18999.hp1 NA19077.hp2 NA19079.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 a0001c0001t0001 a0001c0001t0006 a0001c0001t0013	a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(13): Show a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0057 a0001c0001t0001g0161 a0001c0001t0001g0182 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0006g0165 a0001c0001t0006g0169 a0001c0001t0006g0171 a0001c0001t0006g0172 a0001c0001t0006g0173 a0001c0001t0013g0151	16	47	0.3404	22	c.746 others(41): Show c.746-12508_746-12487dupACACACACACACACACACACAC	SCMH1	ENSG00000010803.17	transcript	ENST00000695335.1	protein_coding	8/15			chr1	TogoVar
SCMH1_chr1_41022202_41247306	41244447	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG02735.hp1 NA18948.hp1 others(3): Show HG00323.hp1 HG02735.hp1 NA18948.hp1 NA18980.hp1 NA19054.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0036 a0001c0001t0005g0252 a0001c0001t0005g0265 others(3): Show a0001c0001t0001g0036 a0001c0001t0005g0252 a0001c0001t0005g0265 a0001c0001t0005g0266 a0001c0001t0005g0273 a0001c0001t0005g0279	6	165	0.0364	22	c.-25 others(33): Show c.-2507_-2506insAAAAAAAAAAAAAAAAAAAAAA	SCMH1	ENSG00000010803.17	transcript	ENST00000695335.1	protein_coding		2142		chr1	TogoVar
SCML4_chr6_107697154_107829313	107778196	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0125 a0001c0001t0013g0125	1	231	0.0043	22	c.-59 others(39): Show c.-59-5832_-59-5811dupTTTTTTTTTTTTTTTTTTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107778222	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG04199.hp2 HG02572.hp1 HG04199.hp2	a0002 a0002	a0002c0006 a0002c0007 a0002c0006 a0002c0007	a0002c0006t0009 a0002c0007t0007 a0002c0006t0009 a0002c0007t0007	a0002c0006t0009g0035 a0002c0007t0007g0021 a0002c0006t0009g0035 a0002c0007t0007g0021	2	175	0.0114	22	c.-59 others(39): Show c.-59-5837_-59-5836insATATATTTTTTTTTTTTTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107778222	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	174	0.0057	22	c.-59 others(39): Show c.-59-5837_-59-5836insATATATATTTTTTTTTTTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107778222	A A	AAAAAATA others(15): Show AAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0108 a0001c0003t0012g0108	1	174	0.0057	22	c.-59 others(39): Show c.-59-5837_-59-5836insATATATATATATATATATTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCN10A_chr3_38691807_38821217	38736963	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 NA18974.hp2 NA19012.hp2 HG01934.hp1 NA18974.hp2 NA19012.hp2	a0001 a0006 a0001 a0006	a0001c0004 a0006c0050 a0001c0004 a0006c0050	a0001c0004t0001 a0006c0050t0001 a0001c0004t0001 a0006c0050t0001	a0001c0004t0001g0009 a0001c0004t0001g0031 a0006c0050t0001g0049 a0001c0004t0001g0009 a0001c0004t0001g0031 a0006c0050t0001g0049	3	129	0.0233	22	c.228 others(41): Show c.2280+2530_2280+2551dupAAAAAAAAAAAAAAAAAAAAAA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	15/27			chr3	TogoVar
SCN10A_chr3_38691807_38821217	38737832	C C	CTTTCTTT others(15): Show CTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02080.hp2 HG02970.hp2 others(6): Show HG01255.hp2 HG02080.hp2 HG02970.hp2 HG03704.hp2 NA18964.hp1 NA18970.hp2 NA18982.hp1 NA19005.hp1 NA21309.hp1	a0004 a0005 a0007 a0004 a0005 a0007	a0004c0005 a0004c0034 a0005c0009 others(3): Show a0004c0005 a0004c0034 a0005c0009 a0005c0011 a0005c0025 a0007c0016	a0004c0005t0001 a0004c0034t0001 a0005c0009t0002 others(3): Show a0004c0005t0001 a0004c0034t0001 a0005c0009t0002 a0005c0011t0001 a0005c0025t0001 a0007c0016t0001	a0004c0005t0001g0174 a0004c0005t0001g0188 a0004c0034t0001g0167 others(6): Show a0004c0005t0001g0174 a0004c0005t0001g0188 a0004c0034t0001g0167 a0004c0034t0001g0175 a0005c0009t0002g0151 a0005c0011t0001g0054 a0005c0011t0001g0144 a0005c0025t0001g0307 a0007c0016t0001g0053	9	285	0.0316	22	c.228 others(41): Show c.2280+1682_2280+1683insAAGAAAGAAAGAAAGAAAGAAA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	15/27			chr3	TogoVar
SCN10A_chr3_38691807_38821217	38737835	T T	TCTTTCTT others(15): Show TCTTTCTTTCTTTCTTTCTTCTC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0091 a0001c0003t0001g0091	1	365	0.0027	22	c.228 others(41): Show c.2280+1679_2280+1680insGAGAAGAAAGAAAGAAAGAAAG	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	15/27			chr3	TogoVar
SCN10A_chr3_38691807_38821217	38746100	T T	TATATATA others(15): Show TATATATATATATATATATCTAG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02895.hp1 HG03209.hp2 others(1): Show HG02056.hp2 HG02895.hp1 HG03209.hp2 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0002 a0001c0007t0001 a0001c0003t0002 a0001c0007t0001	a0001c0003t0002g0101 a0001c0003t0002g0253 a0001c0007t0001g0013 others(1): Show a0001c0003t0002g0101 a0001c0003t0002g0253 a0001c0007t0001g0013 a0001c0007t0001g0159	4	113	0.0354	22	c.186 others(41): Show c.1868-3572_1868-3571insCTAGATATATATATATATATAT	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	13/27			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38929131	G G	GTGCGCGC others(15): Show GTGCGCGCGCGCACACACACACA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0306 a0001c0006t0003g0306	1	256	0.0039	22	c.489 others(39): Show c.489-2201_489-2200insTGTGTGTGTGTGCGCGCGCGCA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	7/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38950066	C C	CACCCCCC others(15): Show CACCCCCCCCCACCCCCCCCCCA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0305 a0001c0006t0006g0305	1	292	0.0034	22	c.267 others(35): Show c.267+29_267+30insTGGGGGGGGGGTGGGGGGGGGT	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	5/29			chr3	TogoVar
SCN1A_chr2_165980813_166133020	166050613	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01070.hp1 HG01071.hp1 others(14): Show HG00423.hp2 HG01070.hp1 HG01071.hp1 HG01891.hp2 HG02056.hp1 HG02615.hp2 HG02738.hp2 HG04228.hp1 NA18969.hp1 NA18990.hp2 NA18993.hp1 NA19007.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0019 a0001c0001 a0002c0002 a0002c0019	a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0023 a0001c0001t0054 a0002c0002t0028 a0002c0002t0049 a0002c0019t0005	a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0145 others(14): Show a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0145 a0001c0001t0002g0193 a0001c0001t0002g0195 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0004g0235 a0001c0001t0004g0240 a0001c0001t0004g0257 a0001c0001t0009g0007 a0001c0001t0023g0067 a0001c0001t0054g0272 a0002c0002t0028g0054 a0002c0002t0028g0056 a0002c0002t0049g0080 a0002c0019t0005g0165	17	147	0.1156	22	c.964 others(39): Show c.964+1084_964+1105dupTATATATATATATATATATATA	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	9/28			chr2	TogoVar
SCN1A_chr2_165980813_166133020	166118298	G G	GCTTCTTT others(15): Show GCTTCTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0290 a0001c0001t0035g0290	1	248	0.0040	22	c.-14 others(41): Show c.-142+8625_-142+8626insAAAAAAAAAAAAAAAAAAGAAG	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	2/28			chr2	TogoVar
SCN2A_chr2_165234414_165397304	165240659	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02698.hp2 HG01099.hp1 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0347 a0001c0001t0001g0348	2	69	0.0290	22	c.-52 others(39): Show c.-52+1034_-52+1055dupTGTGTGTGTGTGTGTGTGTGTG	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN2A_chr2_165234414_165397304	165291575	T T	TTCTCTCT others(15): Show TTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA18991.hp2 NA19080.hp2 HG02280.hp2 NA18991.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0239 a0001c0001t0001g0264 a0001c0001t0001g0020 a0001c0001t0001g0239 a0001c0001t0001g0264	3	319	0.0094	22	c.-51 others(39): Show c.-51-4194_-51-4173dupCTCTCTCTCTCTCTCTCTCTCT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN2B_chr11_118157806_118181639	118162086	C C	CAGAGAGA others(15): Show CAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG03139.hp2 HG02886.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0029 a0001c0001t0010g0075 a0001c0001t0010g0029 a0001c0001t0010g0075	2	358	0.0056	22	c.48 others(33): Show c.4800_*4801insCTCTCTCTCTCTCTCTCTCTCT	SCN2B	ENSG00000149575.9	transcript	ENST00000278947.6	protein_coding		719		chr11	TogoVar
SCN3B_chr11_123624188_123659624	123625973	A A	AGAGAGAG others(15): Show AGAGAGAGAGAGAGAGAGAGATC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0002 a0001c0001t0005g0002	1	368	0.0027	22	c.78 others(33): Show c.7825_*7826insGATCTCTCTCTCTCTCTCTCTC	SCN3B	ENSG00000166257.10	transcript	ENST00000299333.8	protein_coding		3214		chr11	TogoVar
SCN5A_chr3_38543062_38654687	38555159	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18952.hp2 NA18980.hp2 NA18944.hp2 NA18952.hp2 NA18980.hp2	a0001 a0020 a0001 a0020	a0001c0003 a0020c0052 a0001c0003 a0020c0052	a0001c0003t0004 a0020c0052t0004 a0001c0003t0004 a0020c0052t0004	a0001c0003t0004g0003 a0020c0052t0004g0323 a0001c0003t0004g0003 a0020c0052t0004g0323	3	59	0.0508	22	c.454 others(39): Show c.4542+475_4542+496dupGTGTGTGTGTGTGTGTGTGTGT	SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	26/27			chr3	TogoVar
SCN5A_chr3_38543062_38654687	38624208	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02895.hp2 HG03041.hp1 others(1): Show HG01891.hp1 HG02895.hp2 HG03041.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0008 a0001c0018 a0001c0002 a0001c0008 a0001c0018	a0001c0002t0001 a0001c0008t0002 a0001c0018t0002 a0001c0002t0001 a0001c0008t0002 a0001c0018t0002	a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0008t0002g0135 others(1): Show a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0008t0002g0135 a0001c0018t0002g0132	4	134	0.0299	22	c.393 others(39): Show c.393-1741_393-1720dupGTGTGTGTGTGTGTGTGTGTGT	SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	3/27			chr3	TogoVar
SCN7A_chr2_166398573_166499249	166413981	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG02717.hp1 HG02886.hp2 others(7): Show HG01258.hp2 HG02717.hp1 HG02886.hp2 HG03669.hp2 NA18953.hp2 NA18973.hp1 NA18983.hp1 NA19007.hp1 NA19080.hp2 NA20805.hp1	a0001 a0003 a0009 others(1): Show a0001 a0003 a0009 a0022	a0001c0001 a0001c0010 a0003c0003 others(2): Show a0001c0001 a0001c0010 a0003c0003 a0009c0011 a0022c0027	a0001c0001t0001 a0001c0001t0012 a0001c0010t0001 others(3): Show a0001c0001t0001 a0001c0001t0012 a0001c0010t0001 a0003c0003t0004 a0009c0011t0004 a0022c0027t0001	a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0107 others(7): Show a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0290 a0001c0001t0012g0313 a0001c0010t0001g0063 a0003c0003t0004g0132 a0009c0011t0004g0102 a0022c0027t0001g0293	10	151	0.0662	22	c.341 others(39): Show c.3415-882_3415-861dupTATATATATATATATATATATA	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25			chr2	TogoVar
SCN7A_chr2_166398573_166499249	166413981	G G	GTGTATAT others(15): Show GTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA20129.hp2 HG04184.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0001 a0001c0001t0020	a0001c0001t0001g0288 a0001c0001t0020g0362 a0001c0001t0001g0288 a0001c0001t0020g0362	2	143	0.0140	22	c.341 others(39): Show c.3415-861_3415-860insTATATATATATATATATATACA	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25			chr2	TogoVar
SCN7A_chr2_166398573_166499249	166414000	T T	TATATATA others(15): Show TATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	389	0.0026	22	c.341 others(39): Show c.3415-880_3415-879insTTATATATATATATATATATAT	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25			chr2	TogoVar
SCN7A_chr2_166398573_166499249	166414255	G G	GATATATA others(15): Show GATATATATACACACACATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0125 a0003c0003t0001g0125	1	317	0.0032	22	c.341 others(41): Show c.3415-1156_3415-1135dupATATATGTGTGTGTATATATAT	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25			chr2	TogoVar
SCN7A_chr2_166398573_166499249	166439055	G G	GTGTGTAT others(15): Show GTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02735.hp1 NA18954.hp2 NA18979.hp1 others(1): Show HG02735.hp1 NA18954.hp2 NA18979.hp1 NA19064.hp1	a0007 a0021 a0007 a0021	a0007c0007 a0021c0022 a0007c0007 a0021c0022	a0007c0007t0002 a0021c0022t0002 a0007c0007t0002 a0021c0022t0002	a0007c0007t0002g0242 a0007c0007t0002g0245 a0007c0007t0002g0258 others(1): Show a0007c0007t0002g0242 a0007c0007t0002g0245 a0007c0007t0002g0258 a0021c0022t0002g0226	4	111	0.0360	22	c.215 others(41): Show c.2157+2340_2157+2341insTATATATATATATATATACACA	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	15/25			chr2	TogoVar
SCN8A_chr12_51586233_51817864	51721081	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG03225.hp1 HG04204.hp1 others(2): Show HG01346.hp2 HG03225.hp1 HG04204.hp1 NA18977.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0019 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0019 a0001c0003t0004	a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0004g0058 others(2): Show a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0004g0058 a0001c0001t0019g0155 a0001c0003t0004g0109	5	168	0.0298	22	c.163 others(39): Show c.1636-460_1636-439dupTATATATATATATATATATATA	SCN8A	ENSG00000196876.19	transcript	ENST00000354534.11	protein_coding	11/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
SCN9A_chr2_166190185_166380944	166288120	T T	TATATATA others(15): Show TATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0144 a0001c0005t0001g0144	1	165	0.0061	22	c.131 others(39): Show c.1314+316_1314+317insGTGTGTGTGTATATATATATAT	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	10/26			chr2	TogoVar
SCN9A_chr2_166190185_166380944	166288120	T T	TATATATA others(15): Show TATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02015.hp1 HG00597.hp2 HG02015.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0122 a0001c0002t0001g0232 a0001c0002t0001g0122 a0001c0002t0001g0232	2	166	0.0120	22	c.131 others(39): Show c.1314+316_1314+317insGTGTGTGTATATATATATATAT	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	10/26			chr2	TogoVar
SCN9A_chr2_166190185_166380944	166311330	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03490.hp2 HG03492.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0245 a0001c0006t0001g0246 a0001c0006t0001g0245 a0001c0006t0001g0246	2	82	0.0244	22	c.258 others(37): Show c.258+147_258+168dupTATATATATATATATATATATA	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	2/26			chr2	TogoVar
SCNN1D_chr1_1275436_1297025	1288299	G G	GTCCCTGC others(15): Show GTCCCTGCCCCGTCCCCCGTGTC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0006 a0001c0036t0006	a0001c0036t0006g0122 a0001c0036t0006g0122	1	178	0.0056	22	c.166 others(39): Show c.1662+264_1662+265insCCTGCCCCGTCCCCCGTGTCTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288299	G G	GTCTCTGC others(15): Show GTCTCTGCTCCGTCCCCCGTGTC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0004 a0008c0007t0004	a0008c0007t0004g0284 a0008c0007t0004g0284	1	178	0.0056	22	c.166 others(39): Show c.1662+265_1662+266insCTGCTCCGTCCCCCGTGTCTCT	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288419	T T	TCCCCCGT others(15): Show TCCCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0086 a0002c0003t0002g0086	1	239	0.0042	22	c.166 others(39): Show c.1662+385_1662+386insCCGTGTCTCTGCTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288475	T T	TCCCCCGA others(15): Show TCCCCCGAGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0152 a0003c0004t0003g0152	1	262	0.0038	22	c.166 others(39): Show c.1662+441_1662+442insCCGAGTCTCTGCTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar

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