Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SAT1_chrX_23778173_23791210	23780488	T T	TAATATAT others(33): Show TAATATATATATATTATATATATATATATAATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	330	0.0030	40	c.-28 others(51): Show c.-2864_-2863insAATATATATATATTATATATATATATATAATATA TATATA	SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding		2684		chrX	TogoVar
SAT1_chrX_23778173_23791210	23780490	T T	TAATATAT others(33): Show TAATATATATATATTATATATATATATATAATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG03139.hp1 HG02280.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0036 a0001c0001t0001g0015 a0001c0001t0001g0036	2	330	0.0061	40	c.-28 others(51): Show c.-2862_-2861insAATATATATATATTATATATATATATATAATATA TATATA	SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding		2682		chrX	TogoVar
SAT2_chr17_7621234_7632821	7624587	G G	GAACTCCT others(33): Show GAACTCCTGGGCTCAAGTGATCCTCCACCCTCAACCTCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	432	0.0023	40	c.18 others(51): Show c.1820_*1859dupTGAGAGGTTGAGGGTGGAGGATCACTTGAGCCCA GGAGTT	SAT2	ENSG00000141504.12	transcript	ENST00000269298.10	protein_coding		1646		chr17	TogoVar
SBF2_chr11_9773668_10299219	9989055	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0156 a0001c0003t0004g0156	1	224	0.0045	40	c.139 others(57): Show c.1395+441_1395+442insGTATATATATATATATATATATATATAT ATATATATATAT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	13/39			chr11	TogoVar
SBK2_chr19_55523611_55542133	55537321	C C	CCCTCCTC others(33): Show CCCTCCTCCTCCCTCAGACTCAGGAGTCCAGGCCCCCAGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02145.hp2 HG02486.hp2 others(4): Show HG02109.hp2 HG02145.hp2 HG02486.hp2 HG02622.hp2 HG02818.hp2 HG03130.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0033 a0001c0001t0001 a0001c0001t0011 a0001c0001t0033	a0001c0001t0001g0011 a0001c0001t0011g0216 a0001c0001t0011g0217 others(2): Show a0001c0001t0001g0011 a0001c0001t0011g0216 a0001c0001t0011g0217 a0001c0001t0011g0218 a0001c0001t0033g0113	7	434	0.0161	40	c.-27 others(49): Show c.-271_-270insCGCTGGGGGCCTGGACTCCTGAGTCTGAGGGAGGAG GAGG	SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding		189		chr19	TogoVar
SBK3_chr19_55535656_55550543	55537321	C C	CCCTCCTC others(33): Show CCCTCCTCCTCCCTCAGACTCAGGAGTCCAGGCCCCCAGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02145.hp2 HG02486.hp1 others(6): Show HG02109.hp2 HG02145.hp2 HG02486.hp1 HG02622.hp1 HG02723.hp1 HG02818.hp2 HG03130.hp1 HG06807.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0030 a0001c0002t0001g0067 a0001c0002t0001g0002 a0001c0002t0001g0030 a0001c0002t0001g0067	9	438	0.0206	40	c.35 others(51): Show c.3524_*3525insCGCTGGGGGCCTGGACTCCTGAGTCTGAGGGAGG AGGAGG	SBK3	ENSG00000231274.5	transcript	ENST00000612221.1	protein_coding		3334		chr19	TogoVar
SBSN_chr19_35518367_35533311	35520356	C C	CTATATAT others(33): Show CTATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 HG02683.hp2 HG02165.hp2 HG02683.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0008 a0001c0003t0001g0008	2	450	0.0044	40	c.31 others(51): Show c.3153_*3154insTATATATATATATATATATATATATATATATATA TATATA	SBSN	ENSG00000189001.11	transcript	ENST00000452271.7	protein_coding		3010		chr19	TogoVar
SCAF1_chr19_49637209_49663642	49659984	T T	TACACACA others(33): Show TACACACACACACATATACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG02630.hp1 HG03486.hp2 others(1): Show HG01069.hp1 HG02630.hp1 HG03486.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0004 a0001c0002 a0003c0004	a0001c0002t0002 a0003c0004t0002 a0001c0002t0002 a0003c0004t0002	a0001c0002t0002g0009 a0001c0002t0002g0040 a0001c0002t0002g0079 others(1): Show a0001c0002t0002g0009 a0001c0002t0002g0040 a0001c0002t0002g0079 a0003c0004t0002g0006	4	382	0.0105	40	c.15 others(51): Show c.1585_*1586insACACACACACACATATACACACACACACACACAC ACACAC	SCAF1	ENSG00000126461.15	transcript	ENST00000360565.8	protein_coding		1343		chr19	TogoVar
SCAF1_chr19_49637209_49663642	49659984	T T	TACACACA others(33): Show TACACACACACACATATATACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0011 a0003c0004t0002g0011	1	382	0.0026	40	c.15 others(51): Show c.1585_*1586insACACACACACACATATATACACACACACACACAC ACACAC	SCAF1	ENSG00000126461.15	transcript	ENST00000360565.8	protein_coding		1343		chr19	TogoVar
SCAMP1_chr5_78355617_78485739	78460766	T T	TTCCCTCC others(33): Show TTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0006 a0001c0001t0006g0006	1	332	0.0030	40	c.852 others(57): Show c.852+1407_852+1408insCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCC	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460812	C C	CTTTCTTT others(33): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	332	0.0030	40	c.852 others(57): Show c.852+1450_852+1451insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTTCTTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8			chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460820	C C	CTTTCTTT others(33): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	332	0.0030	40	c.852 others(57): Show c.852+1458_852+1459insTTTCTTTCTTTCTTTCTTTCTTTCTTTT CTTTCTTTCTTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8			chr5	TogoVar
SCAMP3_chr1_155250981_155267360	155252690	G G	GTGTATAT others(33): Show GTGTATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	375	0.0027	40	c.35 others(51): Show c.3582_*3583insTATATATATATATATATATATATATATATATATA TATACA	SCAMP3	ENSG00000116521.11	transcript	ENST00000302631.8	protein_coding		3290		chr1	TogoVar
SCARB1_chr12_124771856_124868864	124839751	T T	TTTCTCCG others(33): Show TTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00738.hp2 HG01168.hp2 HG00639.hp2 HG00738.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0105 a0001c0002t0001g0101 a0001c0002t0001g0177 a0001c0001t0001g0105 a0001c0002t0001g0101 a0001c0002t0001g0177	3	356	0.0084	40	c.127 others(59): Show c.127-22084_127-22045dupTCGGGGCCCATGTGTGCCGTTGGGGT GAGGGTGCGGAGAA	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCART1_chr10_133448945_133474760	133460471	C C	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02486.hp1 HG01243.hp2 HG02486.hp1	a0004 a0004	a0004c0019 a0004c0019	a0004c0019t0007 a0004c0019t0008 a0004c0019t0007 a0004c0019t0008	a0004c0019t0007g0118 a0004c0019t0008g0133 a0004c0019t0007g0118 a0004c0019t0008g0133	2	434	0.0046	40	c.196 others(57): Show c.1969+319_1969+320insATATATATATATATATATATATATATAT ATATATATATAT	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
SCD5_chr4_82624539_82803796	82653676	T T	TGATAGAC others(33): Show TGATAGACAGACAGATAGATAGATAGATAGATAGATAGATA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02165.hp1 HG00642.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0059 a0001c0001t0002g0044 a0001c0001t0002g0059	2	210	0.0095	40	c.570 others(59): Show c.570-16854_570-16853insTATCTATCTATCTATCTATCTATCTA TCTGTCTGTCTATC	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	3/4			chr4	TogoVar
SCFD2_chr4_52867982_53371061	53110041	G G	GGAACAGA others(33): Show GGAACAGAACAGAACAGAACAGAACAGAACAGAACAGAACA	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18612.hp1 NA18998.hp2 others(3): Show HG00423.hp2 NA18612.hp1 NA18998.hp2 NA18999.hp2 NA19087.hp1 NA19088.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0005 a0001c0007 a0002c0002 others(1): Show a0001c0005 a0001c0007 a0002c0002 a0006c0013	a0001c0005t0001 a0001c0007t0003 a0002c0002t0011 others(1): Show a0001c0005t0001 a0001c0007t0003 a0002c0002t0011 a0006c0013t0001	a0001c0005t0001g0023 a0001c0005t0001g0026 a0001c0007t0003g0025 others(3): Show a0001c0005t0001g0023 a0001c0005t0001g0026 a0001c0007t0003g0025 a0001c0007t0003g0027 a0002c0002t0011g0090 a0006c0013t0001g0031	6	162	0.0370	40	c.156 others(61): Show c.1561+35291_1561+35292insTGTTCTGTTCTGTTCTGTTCTGTT CTGTTCTGTTCTGTTC	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	5/8			chr4	TogoVar
SCFD2_chr4_52867982_53371061	53140392	A A	AAAATATA others(33): Show AAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02630.hp1 HG02970.hp2 HG00423.hp2 HG02630.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0004 a0001c0007t0003 a0001c0001t0001 a0001c0001t0004 a0001c0007t0003	a0001c0001t0001g0142 a0001c0001t0004g0009 a0001c0007t0003g0025 a0001c0001t0001g0142 a0001c0001t0004g0009 a0001c0007t0003g0025	3	162	0.0185	40	c.156 others(59): Show c.1561+4940_1561+4941insATATATATATATATATATATATATAT ATATATATATATTT	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	5/8			chr4	TogoVar
SCG3_chr15_51676503_51726026	51704764	C C	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	402	0.0025	40	c.120 others(59): Show c.1207+3551_1207+3552insTATATATATATATATATATATATATA TATATATATATATA	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(33): Show ATATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03017.hp2 HG03831.hp1 others(2): Show HG02647.hp1 HG03017.hp2 HG03831.hp1 HG04199.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0171 a0001c0001t0001g0314 a0001c0001t0001g0393 others(2): Show a0001c0001t0001g0171 a0001c0001t0001g0314 a0001c0001t0001g0393 a0001c0001t0002g0054 a0001c0001t0002g0231	5	415	0.0121	40	c.226 others(59): Show c.226+13394_226+13395insATATATATATATATATATATATATAT ATATATATATGTAT	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(33): Show ATATATATATATATATATATATATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02451.hp1 NA18947.hp1 others(1): Show HG01433.hp1 HG02451.hp1 NA18947.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0095 a0001c0001t0001g0119 a0001c0001t0001g0388 others(1): Show a0001c0001t0001g0095 a0001c0001t0001g0119 a0001c0001t0001g0388 a0001c0002t0001g0376	4	415	0.0096	40	c.226 others(59): Show c.226+13394_226+13395insATATATATATATATATATATATATAT ATATATGTATGTAT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCGB1C1_chr11_188078_199575	191842	A A	ACCCCTAA others(33): Show ACCCCTAACCCCTAACCCTAACCCTAACCCTAACCCCTAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	1	354	0.0028	40	c.-12 others(51): Show c.-1258_-1257insCCCCTAACCCCTAACCCTAACCCTAACCCTAACC CCTAAC	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1235		chr11	TogoVar
SCGB1C1_chr11_188078_199575	195975	T T	TGGGGGGG others(33): Show TGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(21): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01070.hp2 HG01081.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01891.hp2 HG01934.hp1 HG01943.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02109.hp1 HG02273.hp1 HG02698.hp2 HG02809.hp2 HG03098.hp1 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	24	354	0.0678	40	c.15 others(51): Show c.1525_*1526insGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAG GACATG	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1401		chr11	TogoVar
SCML4_chr6_107697154_107829313	107819236	G G	GCCAAGGC others(33): Show GCCAAGGCAATTATTTGCTTTGCCCAGCTCAGCACTTGTTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00438.hp1 others(111): Show HG00140.hp1 HG00140.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01516.hp2 HG01891.hp1 HG01934.hp2 HG01952.hp1 HG01978.hp1 HG02004.hp1 HG02055.hp2 HG02056.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02451.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02698.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03195.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18957.hp2 NA18964.hp1 NA18965.hp2 NA18967.hp2 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18977.hp2 NA18984.hp2 NA18985.hp1 NA18987.hp2 NA18988.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp2 NA19054.hp1 NA19056.hp1 NA19060.hp1 NA19062.hp1 NA19076.hp1 NA19079.hp2 NA19084.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0012 a0002c0004 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0009 a0001c0002t0010 a0001c0002t0029 a0001c0003t0007 a0001c0003t0012 a0001c0003t0015 a0001c0003t0016 a0001c0005t0005 a0001c0005t0011 a0001c0005t0017 a0001c0005t0018 a0001c0005t0030 a0001c0012t0002 a0002c0004t0002 a0002c0004t0004 a0002c0004t0005 a0002c0004t0009 a0002c0004t0020 a0002c0006t0005 a0002c0006t0009	a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 others(111): Show a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0170 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0173 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0194 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0202 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0211 a0001c0001t0002g0214 a0001c0001t0002g0221 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0242 a0001c0001t0003g0080 a0001c0001t0003g0189 a0001c0001t0004g0172 a0001c0001t0004g0186 a0001c0001t0004g0188 a0001c0001t0004g0191 a0001c0001t0004g0196 a0001c0001t0004g0201 a0001c0001t0004g0204 a0001c0001t0004g0208 a0001c0001t0004g0215 a0001c0001t0004g0218 a0001c0001t0004g0219 a0001c0001t0004g0222 a0001c0001t0004g0233 a0001c0001t0004g0246 a0001c0001t0005g0193 a0001c0001t0006g0138 a0001c0001t0008g0169 a0001c0001t0008g0176 a0001c0001t0008g0183 a0001c0001t0008g0190 a0001c0001t0008g0203 a0001c0001t0008g0213 a0001c0001t0008g0223 a0001c0001t0008g0226 a0001c0001t0008g0229 a0001c0001t0008g0239 a0001c0001t0008g0244 a0001c0001t0013g0156 a0001c0001t0014g0128 a0001c0001t0019g0137 a0001c0002t0001g0164 a0001c0002t0002g0247 a0001c0002t0005g0165 a0001c0002t0005g0174 a0001c0002t0005g0180 a0001c0002t0005g0182 a0001c0002t0005g0192 a0001c0002t0005g0197 a0001c0002t0005g0200 a0001c0002t0005g0209 a0001c0002t0005g0210 a0001c0002t0005g0216 a0001c0002t0005g0217 a0001c0002t0005g0230 a0001c0002t0005g0238 a0001c0002t0005g0245 a0001c0002t0005g0248 a0001c0002t0009g0078 a0001c0002t0010g0129 a0001c0002t0010g0134 a0001c0002t0010g0148 a0001c0002t0010g0163 a0001c0002t0029g0151 a0001c0003t0007g0127 a0001c0003t0012g0130 a0001c0003t0012g0131 a0001c0003t0012g0132 a0001c0003t0012g0133 a0001c0003t0012g0135 a0001c0003t0012g0136 a0001c0003t0015g0160 a0001c0003t0015g0161 a0001c0003t0015g0162 a0001c0003t0016g0220 a0001c0005t0005g0181 a0001c0005t0011g0081 a0001c0005t0011g0171 a0001c0005t0017g0195 a0001c0005t0017g0224 a0001c0005t0018g0205 a0001c0005t0018g0212 a0001c0005t0030g0079 a0001c0012t0002g0227 a0001c0012t0002g0228 a0002c0004t0002g0237 a0002c0004t0004g0184 a0002c0004t0004g0225 a0002c0004t0004g0236 a0002c0004t0005g0241 a0002c0004t0009g0175 a0002c0004t0020g0243 a0002c0006t0005g0179 a0002c0006t0005g0249 a0002c0006t0009g0240	114	250	0.4560	40	c.-60 others(57): Show c.-60+4889_-60+4890insGAACAAGTGCTGAGCTGGGCAAAGCAAA TAATTGCCTTGG	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCN10A_chr3_38691807_38821217	38737798	C C	CTCTTTCT others(33): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01934.hp2 NA19010.hp1 HG01361.hp1 HG01934.hp2 NA19010.hp1	a0001 a0001	a0001c0003 a0001c0008 a0001c0003 a0001c0008	a0001c0003t0001 a0001c0008t0001 a0001c0003t0001 a0001c0008t0001	a0001c0003t0001g0042 a0001c0003t0001g0295 a0001c0008t0001g0197 a0001c0003t0001g0042 a0001c0003t0001g0295 a0001c0008t0001g0197	3	372	0.0081	40	c.228 others(59): Show c.2280+1716_2280+1717insAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	15/27			chr3	TogoVar
SCN10A_chr3_38691807_38821217	38746063	G G	GTGTATAT others(33): Show GTGTATATATATATGTGTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA19009.hp2 HG02056.hp1 NA19009.hp2	a0002 a0026 a0002 a0026	a0002c0001 a0026c0042 a0002c0001 a0026c0042	a0002c0001t0001 a0026c0042t0002 a0002c0001t0001 a0026c0042t0002	a0002c0001t0001g0234 a0026c0042t0002g0193 a0002c0001t0001g0234 a0026c0042t0002g0193	2	372	0.0054	40	c.186 others(59): Show c.1868-3535_1868-3534insTATATATATATATATATATACACACA CATATATATATACA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	13/27			chr3	TogoVar
SCN10A_chr3_38691807_38821217	38746063	G G	GTGTATAT others(33): Show GTGTATATATATATGTGTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0202 a0002c0001t0002g0202	1	372	0.0027	40	c.186 others(59): Show c.1868-3535_1868-3534insTATATATATATATATATACACACACA CATATATATATACA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	13/27			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38995799	G G	GTCTATCT others(33): Show GTCTATCTATCTATCTGTCTGTCTGTCTATCTATCTATCTA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG03041.hp2 HG01167.hp2 HG01169.hp1 HG03041.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0251 a0001c0005t0001g0252 a0001c0005t0001g0256 a0001c0005t0001g0251 a0001c0005t0001g0252 a0001c0005t0001g0256	3	314	0.0096	40	c.-27 others(61): Show c.-279-35377_-279-35376insTAGATAGATAGATAGACAGACAGA CAGATAGATAGATAGA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38995799	G G	GTCTATCT others(33): Show GTCTATCTATCTGTCTGTCTGTCTATCTATCTGTCTGTCTA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0206 a0003c0004t0001g0206	1	314	0.0032	40	c.-27 others(61): Show c.-279-35377_-279-35376insTAGACAGACAGATAGATAGACAGA CAGACAGATAGATAGA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29			chr3	TogoVar
SCN1A_chr2_165980813_166133020	166072789	T T	TTTCCTTC others(33): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA19062.hp2 NA18940.hp2 NA19062.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0309 a0002c0002t0009g0313 a0002c0002t0009g0309 a0002c0002t0009g0313	2	356	0.0056	40	c.264 others(55): Show c.264+568_264+569insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAA	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	4/28			chr2	TogoVar
SCN8A_chr12_51586233_51817864	51644910	A A	ACCCTCCG others(33): Show ACCCTCCGCCCGGCAGCCGCCCTGTCTGAGAAGTGAGGAGC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0131 a0001c0001t0005g0131	1	202	0.0050	40	c.-54 others(59): Show c.-54-17843_-54-17804dupGGCAGCCGCCCTGTCTGAGAAGTGAG GAGCCCCTCCGCCC	SCN8A	ENSG00000196876.19	transcript	ENST00000354534.11	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
SCNN1D_chr1_1275436_1297025	1284177	T T	TTGGGTGA others(33): Show TTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0027 a0002c0003t0002g0027	1	290	0.0035	40	c.464 others(53): Show c.464+91_464+92insTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGT GGGGTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288299	G G	GTCTCTGC others(33): Show GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0115 a0002c0003t0004g0115	1	290	0.0035	40	c.166 others(57): Show c.1662+265_1662+266insCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCT	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(33): Show TCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0263 a0001c0020t0001g0263	1	290	0.0035	40	c.166 others(57): Show c.1662+385_1662+386insCCGTGTCCCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288475	T T	TCCCCCGT others(33): Show TCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	290	0.0035	40	c.166 others(57): Show c.1662+441_1662+442insCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288663	T T	TCCCGTGT others(33): Show TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	290	0.0035	40	c.166 others(57): Show c.1662+647_1662+648insCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288681	T T	TCCCCCGT others(33): Show TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0017 a0017	a0017c0029 a0017c0029	a0017c0029t0001 a0017c0029t0001	a0017c0029t0001g0048 a0017c0029t0001g0048	1	290	0.0035	40	c.166 others(57): Show c.1662+647_1662+648insCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288755	T T	TCCCGTGT others(33): Show TCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18975.hp1 NA18954.hp2 NA18975.hp1	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0008 a0006c0015t0008	a0006c0015t0008g0276 a0006c0015t0008g0277 a0006c0015t0008g0276 a0006c0015t0008g0277	2	290	0.0069	40	c.166 others(57): Show c.1662+726_1662+727insTCTGCCCCGTCCCCCGTGTCTCTGCCCC GTCCCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288773	T T	TCCCCCGT others(33): Show TCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0021 a0002c0003t0002g0021	1	290	0.0035	40	c.166 others(57): Show c.1662+739_1662+740insCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCCCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288773	T T	TCCCCCGT others(33): Show TCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0046 a0002c0002t0001g0046	1	290	0.0035	40	c.166 others(57): Show c.1662+739_1662+740insCCGTGTCTCTGCTCCGTCCCCCGTGTCT GCTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288885	T T	TCCCCCGT others(33): Show TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0110 a0002c0003t0001g0110	1	290	0.0035	40	c.166 others(57): Show c.1662+851_1662+852insCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288961	T T	TCCCGTGT others(33): Show TCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0005 a0001c0018t0005	a0001c0018t0005g0224 a0001c0018t0005g0224	1	290	0.0035	40	c.166 others(57): Show c.1662+937_1662+938insCCCGTCCCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289015	T T	TCCCCCGT others(33): Show TCCCCCGTGTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0015 a0015	a0015c0037 a0015c0037	a0015c0037t0001 a0015c0037t0001	a0015c0037t0001g0090 a0015c0037t0001g0090	1	290	0.0035	40	c.166 others(57): Show c.1662+981_1662+982insCCGTGTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289147	T T	TCCCCCGT others(33): Show TCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0028 a0004c0005t0002g0028	1	290	0.0035	40	c.166 others(59): Show c.1662+1113_1662+1114insCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCCCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289205	T T	TCCCCCGT others(33): Show TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0068 a0002c0002t0001g0068	1	290	0.0035	40	c.166 others(59): Show c.1663-1063_1663-1062insCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCCCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289489	T T	TCCCCCGT others(33): Show TCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0163 a0001c0001t0002g0163	1	290	0.0035	40	c.166 others(57): Show c.1663-779_1663-778insCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289597	T T	TCCCCCGT others(33): Show TCCCCCGTGTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0029 a0002c0002t0001g0029	1	290	0.0035	40	c.166 others(57): Show c.1663-671_1663-670insCCGTGTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289615	T T	TCCCCCGT others(33): Show TCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	290	0.0035	40	c.166 others(57): Show c.1663-653_1663-652insCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289615	T T	TCCCCCGT others(33): Show TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0046 a0002c0002t0001g0046	1	290	0.0035	40	c.166 others(57): Show c.1663-653_1663-652insCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289633	T T	TCCCGTGT others(33): Show TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	290	0.0035	40	c.166 others(57): Show c.1663-617_1663-616insCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar

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