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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Results per page.

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
SCAMP2_chr15_74838730_74878365	74873423	T T	TCGCTCCG others(18): Show TCGCTCCGCCCCCCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0301 a0001c0001t0004g0301	1	386	0.0026	25	c.-16 others(34): Show c.-169_-168insGGGGGGGGGGGGGGGGGGCGGAGCG	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding		59		chr15	TogoVar
SCAMP3_chr1_155250981_155267360	155252722	A A	ATATATAT others(18): Show ATATATATATATATATATTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG03041.hp2 HG02615.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	375	0.0053	25	c.35 others(36): Show c.3550_*3551insAAAAAAAAATATATATATATATATA	SCAMP3	ENSG00000116521.11	transcript	ENST00000302631.8	protein_coding		3258		chr1	TogoVar
SCAMP5_chr15_74990563_75026495	74990964	T T	TTTTTTTC others(18): Show TTTTTTTCTCTTTCTCTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG01081.hp2 HG01361.hp1 HG00099.hp1 HG01081.hp2 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0107 a0001c0001t0001g0129 a0001c0001t0001g0130	3	370	0.0081	25	c.-47 others(36): Show c.-4758_-4757insTTTTTTCTCTTTCTCTCTTTCTTTC	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4598		chr15	TogoVar
SCAMP5_chr15_74990563_75026495	74990964	T T	TTTTTTTC others(18): Show TTTTTTTCTCTTTCTCTCTTTGTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	370	0.0027	25	c.-47 others(36): Show c.-4758_-4757insTTTTTTCTCTTTCTCTCTTTGTTTC	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4598		chr15	TogoVar
SCAMP5_chr15_74990563_75026495	74990980	T T	TTCTTTCT others(18): Show TTCTTTCTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	370	0.0027	25	c.-47 others(36): Show c.-4742_-4741insTCTTTCTTCTTTCTTTCTTTCTTTC	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4582		chr15	TogoVar
SCAPER_chr15_76342904_76910340	76352674	T T	TCCTGACC others(18): Show TCCTGACCTCAAGTGATCTGCTCACC	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	312	0.0032	25	c.404 others(44): Show c.4047+1250_4047+1274dupGGTGAGCAGATCACTTGAGGTCAGG	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	30/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76428894	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0268 a0002c0002t0002g0268	1	312	0.0032	25	c.331 others(44): Show c.3311+5183_3311+5184insATATATATATATATATATATATATA	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	26/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76488714	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0219 a0002c0002t0002g0219	1	312	0.0032	25	c.295 others(46): Show c.2954+16120_2954+16144dupAAAAAAAAAAAAAAAAAAAAAAAA A	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	24/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76667625	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01081.hp1 HG00323.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0001 a0001c0001t0001g0009	2	312	0.0064	25	c.250 others(44): Show c.2509-1861_2509-1837dupTTTTTTTTTTTTTTTTTTTTTTTTT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	20/31			chr15	TogoVar
SCAP_chr3_47408681_47480941	47473080	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG01069.hp2 others(6): Show HG00099.hp1 HG00140.hp1 HG01069.hp2 HG01256.hp2 HG01515.hp1 HG02698.hp1 HG03704.hp1 HG03942.hp1 NA20805.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0009 a0008c0013 a0001c0001 a0001c0009 a0008c0013	a0001c0001t0002 a0001c0009t0001 a0008c0013t0001 a0001c0001t0002 a0001c0009t0001 a0008c0013t0001	a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 others(6): Show a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0009t0001g0267 a0008c0013t0001g0266	9	304	0.0296	25	c.-99 others(42): Show c.-99+2718_-99+2719insTTTTTTTTTTTTTTTTTTTTTTTTT	SCAP	ENSG00000114650.21	transcript	ENST00000265565.10	protein_coding	1/22			chr3	TogoVar
SCEL_chr13_77530706_77650263	77633442	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01243.hp1 HG01981.hp2 others(10): Show HG00621.hp1 HG01243.hp1 HG01981.hp2 HG02074.hp1 HG02723.hp1 NA18747.hp2 NA18962.hp2 NA18964.hp2 NA18970.hp1 NA18989.hp1 NA18991.hp1 NA19083.hp2 NA19087.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0002c0001 a0003c0005 a0001c0004 a0002c0001 a0003c0005	a0001c0004t0002 a0002c0001t0001 a0003c0005t0002 a0001c0004t0002 a0002c0001t0001 a0003c0005t0002	a0001c0004t0002g0255 a0002c0001t0001g0295 a0002c0001t0001g0300 others(10): Show a0001c0004t0002g0255 a0002c0001t0001g0295 a0002c0001t0001g0300 a0002c0001t0001g0305 a0002c0001t0001g0308 a0002c0001t0001g0310 a0002c0001t0001g0311 a0002c0001t0001g0314 a0002c0001t0001g0316 a0002c0001t0001g0317 a0002c0001t0001g0319 a0003c0005t0002g0015 a0003c0005t0002g0017	13	356	0.0365	25	c.169 others(42): Show c.1692-913_1692-912insAAAAAAAAAAAAAAAAAAAAAAAAA	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(18): Show GAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0001 a0005c0010t0001g0001	1	162	0.0062	25	c.156 others(46): Show c.1562-86436_1562-86435insTCTCTCTCTCTCTCTCTCTCTCTC T	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	5/8			chr4	TogoVar
SCGB1C1_chr11_188078_199575	196113	C C	CTGGTGAG others(18): Show CTGGTGAGGGGACATGGGGGGGACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02723.hp1 HG02970.hp1 others(1): Show HG01884.hp1 HG02723.hp1 HG02970.hp1 HG03225.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0001 a0001c0004t0001g0001	4	354	0.0113	25	c.16 others(36): Show c.1663_*1664insTGGTGAGGGGACATGGGGGGGACCT	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1539		chr11	TogoVar
SCGB1C2_chr17_132569_144067	141154	G G	GGGGACCT others(18): Show GGGGACCTGGTGAGGGGACCTGGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	402	0.0025	25	c.22 others(36): Show c.2212_*2213insGGGACCTGGTGAGGGGACCTGGTGA	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		2088		chr17	TogoVar
SCGB3A2_chr5_147873711_147887191	147881791	G G	GGAAGTTT others(18): Show GGAAGTTTGCACATCCTGGAATCTCA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0020 a0001c0001t0003g0020	1	424	0.0024	25	c.258 others(40): Show c.258+146_258+147insGTTTGCACATCCTGGAATCTCAGAA	SCGB3A2	ENSG00000164265.9	transcript	ENST00000296694.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCIN_chr7_12565720_12665182	12578909	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02970.hp1 HG03139.hp2 others(1): Show HG02622.hp2 HG02970.hp1 HG03139.hp2 NA18522.hp2	a0002 a0007 a0002 a0007	a0002c0003 a0002c0014 a0007c0007 a0002c0003 a0002c0014 a0007c0007	a0002c0003t0015 a0002c0003t0191 a0002c0014t0091 others(1): Show a0002c0003t0015 a0002c0003t0191 a0002c0014t0091 a0007c0007t0033	a0002c0003t0015g0231 a0002c0003t0191g0230 a0002c0014t0091g0059 others(1): Show a0002c0003t0015g0231 a0002c0003t0191g0230 a0002c0014t0091g0059 a0007c0007t0033g0351	4	372	0.0108	25	c.354 others(40): Show c.354+706_354+707insTTTTTTTTTTTTTTTTTTTTTTTTT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
SCIN_chr7_12565720_12665182	12657572	A A	ATATATAT others(18): Show ATATATATATATATATATTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0021 a0001c0001t0077g0021	1	372	0.0027	25	c.48 others(36): Show c.4858_*4859insATATATATATATATATTTTTTTTTT	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(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01346.hp2 HG03834.hp1 others(2): Show HG01261.hp1 HG01346.hp2 HG03834.hp1 HG04115.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0209 a0001c0001t0001g0215 others(2): Show a0001c0001t0001g0193 a0001c0001t0001g0209 a0001c0001t0001g0215 a0001c0001t0001g0232 a0001c0001t0001g0251	5	288	0.0174	25	c.687 others(42): Show c.687-4573_687-4572insAAAAAAAAAAAAAAAAAAAAAAAAA	SCLT1	ENSG00000151466.12	transcript	ENST00000281142.10	protein_coding	9/20			chr4	TogoVar
SCML4_chr6_107697154_107829313	107778222	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0007 a0002c0007t0007	a0002c0007t0007g0018 a0002c0007t0007g0018	1	250	0.0040	25	c.-59 others(42): Show c.-59-5837_-59-5836insATATATATTTTTTTTTTTTTTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107778222	A A	AAAAAAAA others(18): Show AAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02965.hp2 HG02572.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0113 a0001c0002t0001g0154 a0001c0002t0001g0113 a0001c0002t0001g0154	2	250	0.0080	25	c.-59 others(42): Show c.-59-5837_-59-5836insATATATATATATATATTTTTTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107778222	A A	AAAAAAAT others(18): Show AAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 NA18747.hp1 HG01346.hp2 NA18747.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0006 a0002c0004t0003 a0001c0001t0006 a0002c0004t0003	a0001c0001t0006g0022 a0002c0004t0003g0034 a0001c0001t0006g0022 a0002c0004t0003g0034	2	250	0.0080	25	c.-59 others(42): Show c.-59-5837_-59-5836insATATATATATATATATATATTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCN10A_chr3_38691807_38821217	38736963	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0001 a0001c0032t0001	a0001c0032t0001g0363 a0001c0032t0001g0363	1	372	0.0027	25	c.228 others(44): Show c.2280+2527_2280+2551dupAAAAAAAAAAAAAAAAAAAAAAAAA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	15/27			chr3	TogoVar
SCN10A_chr3_38691807_38821217	38816373	C C	CGTTTATG others(18): Show CGTTTATGGAGGATTGTAATGACGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0025 a0025	a0025c0041 a0025c0041	a0025c0041t0001 a0025c0041t0001	a0025c0041t0001g0147 a0025c0041t0001g0147	1	372	0.0027	25	c.-37 others(34): Show c.-370_-369insTACGTCATTACAATCCTCCATAAAC	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding		157		chr3	TogoVar
SCN2A_chr2_165234414_165397304	165291491	T T	TTTCTTTC others(18): Show TTTCTTTCTTTCTTTCTTTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0253 a0001c0001t0010g0253	1	358	0.0028	25	c.-51 others(42): Show c.-51-4280_-51-4279insCTTTCTTTCTTTCTTTTTCTTTCTT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN5A_chr3_38543062_38654687	38548175	T T	TCCCTCCT others(18): Show TCCCTCCTTTTTCCTACTCTCTTCTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(335): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(22): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025	a0001c0001 a0001c0002 a0001c0003 others(74): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0010 a0001c0012 a0001c0014 a0001c0018 a0001c0019 a0001c0020 a0001c0022 a0001c0023 a0001c0026 a0001c0031 a0001c0033 a0001c0038 a0001c0039 a0001c0040 a0001c0043 a0001c0044 a0001c0045 a0001c0047 a0001c0049 a0001c0050 a0001c0051 a0001c0054 a0001c0055 a0001c0072 a0002c0005 a0002c0006 a0002c0007 a0002c0009 a0002c0013 a0002c0015 a0002c0016 a0002c0035 a0002c0059 a0002c0061 a0002c0062 a0002c0064 a0002c0065 a0002c0069 a0002c0070 a0002c0071 a0003c0027 a0003c0028 a0003c0075 a0003c0076 a0004c0011 a0004c0046 a0005c0029 a0005c0030 a0006c0024 a0006c0067 a0006c0068 a0007c0017 a0007c0073 a0008c0021 a0009c0041 a0009c0042 a0010c0025 a0011c0074 a0012c0077 a0013c0037 a0014c0034 a0015c0057 a0016c0032 a0017c0048 a0018c0056 a0019c0052 a0020c0053 a0021c0058 a0022c0066 a0023c0060 a0024c0036 a0025c0063	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(101): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0019 a0001c0001t0027 a0001c0002t0001 a0001c0002t0015 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0006 a0001c0003t0009 a0001c0003t0022 a0001c0003t0026 a0001c0004t0001 a0001c0008t0002 a0001c0008t0007 a0001c0010t0001 a0001c0012t0001 a0001c0014t0004 a0001c0018t0002 a0001c0019t0002 a0001c0020t0001 a0001c0022t0006 a0001c0023t0001 a0001c0026t0002 a0001c0031t0004 a0001c0033t0002 a0001c0038t0016 a0001c0039t0001 a0001c0040t0001 a0001c0043t0004 a0001c0044t0001 a0001c0045t0003 a0001c0047t0001 a0001c0049t0003 a0001c0050t0003 a0001c0051t0002 a0001c0054t0001 a0001c0055t0020 a0001c0072t0001 a0002c0005t0001 a0002c0005t0013 a0002c0006t0002 a0002c0006t0003 a0002c0006t0004 a0002c0006t0005 a0002c0007t0002 a0002c0007t0003 a0002c0007t0004 a0002c0007t0018 a0002c0007t0025 a0002c0009t0002 a0002c0009t0007 a0002c0013t0001 a0002c0015t0001 a0002c0015t0014 a0002c0016t0002 a0002c0035t0004 a0002c0059t0002 a0002c0061t0001 a0002c0062t0008 a0002c0064t0001 a0002c0065t0002 a0002c0069t0002 a0002c0070t0001 a0002c0071t0001 a0003c0027t0004 a0003c0028t0003 a0003c0028t0004 a0003c0075t0001 a0003c0076t0001 a0004c0011t0001 a0004c0046t0002 a0005c0029t0021 a0005c0029t0023 a0005c0030t0008 a0006c0024t0001 a0006c0067t0028 a0006c0068t0017 a0007c0017t0002 a0007c0073t0002 a0008c0021t0002 a0009c0041t0003 a0009c0042t0002 a0010c0025t0012 a0011c0074t0001 a0012c0077t0001 a0013c0037t0002 a0014c0034t0002 a0015c0057t0001 a0016c0032t0001 a0017c0048t0001 a0018c0056t0001 a0019c0052t0004 a0020c0053t0010 a0021c0058t0002 a0022c0066t0002 a0023c0060t0024 a0024c0036t0010 a0025c0063t0001	a0001c0001t0002g0004 a0001c0001t0002g0020 a0001c0001t0002g0024 others(331): Show a0001c0001t0002g0004 a0001c0001t0002g0020 a0001c0001t0002g0024 a0001c0001t0002g0033 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0196 a0001c0001t0002g0199 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0223 a0001c0001t0002g0237 a0001c0001t0002g0255 a0001c0001t0002g0272 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0320 a0001c0001t0003g0052 a0001c0001t0003g0154 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0166 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0185 a0001c0001t0003g0197 a0001c0001t0003g0226 a0001c0001t0003g0245 a0001c0001t0003g0254 a0001c0001t0003g0261 a0001c0001t0003g0268 a0001c0001t0003g0273 a0001c0001t0003g0281 a0001c0001t0003g0283 a0001c0001t0003g0308 a0001c0001t0004g0144 a0001c0001t0004g0151 a0001c0001t0004g0156 a0001c0001t0004g0162 a0001c0001t0004g0176 a0001c0001t0004g0214 a0001c0001t0004g0215 a0001c0001t0004g0292 a0001c0001t0004g0301 a0001c0001t0004g0302 a0001c0001t0004g0314 a0001c0001t0004g0317 a0001c0001t0004g0321 a0001c0001t0004g0325 a0001c0001t0004g0326 a0001c0001t0004g0332 a0001c0001t0004g0333 a0001c0001t0005g0003 a0001c0001t0005g0065 a0001c0001t0006g0172 a0001c0001t0019g0173 a0001c0001t0027g0193 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0145 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0153 a0001c0002t0001g0155 a0001c0002t0001g0161 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0174 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0188 a0001c0002t0001g0213 a0001c0002t0001g0227 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0259 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0286 a0001c0002t0001g0289 a0001c0002t0001g0293 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0303 a0001c0002t0001g0304 a0001c0002t0001g0305 a0001c0002t0001g0307 a0001c0002t0001g0311 a0001c0002t0001g0319 a0001c0002t0001g0322 a0001c0002t0001g0323 a0001c0002t0001g0324 a0001c0002t0001g0328 a0001c0002t0001g0330 a0001c0002t0015g0260 a0001c0003t0002g0002 a0001c0003t0002g0067 a0001c0003t0002g0084 a0001c0003t0002g0167 a0001c0003t0002g0297 a0001c0003t0003g0069 a0001c0003t0003g0070 a0001c0003t0003g0076 a0001c0003t0003g0078 a0001c0003t0003g0083 a0001c0003t0003g0086 a0001c0003t0003g0099 a0001c0003t0003g0100 a0001c0003t0003g0101 a0001c0003t0003g0102 a0001c0003t0003g0103 a0001c0003t0003g0201 a0001c0003t0003g0203 a0001c0003t0003g0294 a0001c0003t0003g0298 a0001c0003t0004g0071 a0001c0003t0004g0079 a0001c0003t0004g0088 a0001c0003t0004g0090 a0001c0003t0004g0104 a0001c0003t0004g0111 a0001c0003t0004g0112 a0001c0003t0004g0123 a0001c0003t0004g0124 a0001c0003t0004g0200 a0001c0003t0004g0210 a0001c0003t0005g0295 a0001c0003t0006g0171 a0001c0003t0009g0006 a0001c0003t0009g0007 a0001c0003t0022g0119 a0001c0003t0026g0087 a0001c0004t0001g0068 a0001c0004t0001g0073 a0001c0004t0001g0074 a0001c0004t0001g0075 a0001c0004t0001g0080 a0001c0004t0001g0081 a0001c0004t0001g0082 a0001c0004t0001g0089 a0001c0004t0001g0095 a0001c0004t0001g0096 a0001c0004t0001g0097 a0001c0004t0001g0098 a0001c0004t0001g0110 a0001c0004t0001g0113 a0001c0004t0001g0114 a0001c0004t0001g0115 a0001c0004t0001g0137 a0001c0004t0001g0138 a0001c0004t0001g0139 a0001c0004t0001g0140 a0001c0004t0001g0141 a0001c0004t0001g0142 a0001c0004t0001g0170 a0001c0004t0001g0202 a0001c0004t0001g0204 a0001c0004t0001g0205 a0001c0004t0001g0206 a0001c0004t0001g0207 a0001c0004t0001g0208 a0001c0004t0001g0209 a0001c0004t0001g0230 a0001c0004t0001g0296 a0001c0008t0002g0009 a0001c0008t0002g0022 a0001c0008t0002g0025 a0001c0008t0002g0134 a0001c0008t0002g0278 a0001c0008t0002g0279 a0001c0008t0007g0121 a0001c0010t0001g0061 a0001c0010t0001g0063 a0001c0012t0001g0019 a0001c0012t0001g0032 a0001c0012t0001g0040 a0001c0012t0001g0280 a0001c0014t0004g0135 a0001c0014t0004g0275 a0001c0014t0004g0288 a0001c0018t0002g0131 a0001c0018t0002g0182 a0001c0019t0002g0021 a0001c0019t0002g0042 a0001c0020t0001g0192 a0001c0020t0001g0194 a0001c0022t0006g0240 a0001c0022t0006g0306 a0001c0023t0001g0221 a0001c0023t0001g0290 a0001c0026t0002g0126 a0001c0026t0002g0127 a0001c0031t0004g0072 a0001c0033t0002g0066 a0001c0038t0016g0118 a0001c0039t0001g0064 a0001c0040t0001g0105 a0001c0043t0004g0189 a0001c0044t0001g0177 a0001c0045t0003g0165 a0001c0047t0001g0329 a0001c0049t0003g0246 a0001c0050t0003g0287 a0001c0051t0002g0008 a0001c0054t0001g0160 a0001c0055t0020g0034 a0001c0072t0001g0148 a0002c0005t0001g0037 a0002c0005t0001g0143 a0002c0005t0001g0146 a0002c0005t0001g0147 a0002c0005t0001g0191 a0002c0005t0001g0216 a0002c0005t0001g0225 a0002c0005t0001g0229 a0002c0005t0001g0247 a0002c0005t0001g0248 a0002c0005t0001g0249 a0002c0005t0001g0250 a0002c0005t0001g0256 a0002c0005t0001g0258 a0002c0005t0001g0267 a0002c0005t0001g0274 a0002c0005t0001g0284 a0002c0005t0001g0316 a0002c0005t0001g0331 a0002c0005t0013g0005 a0002c0006t0002g0224 a0002c0006t0002g0257 a0002c0006t0003g0136 a0002c0006t0003g0233 a0002c0006t0003g0234 a0002c0006t0003g0235 a0002c0006t0003g0236 a0002c0006t0003g0262 a0002c0006t0003g0263 a0002c0006t0004g0058 a0002c0006t0004g0238 a0002c0006t0004g0251 a0002c0006t0004g0252 a0002c0006t0004g0285 a0002c0006t0004g0318 a0002c0006t0004g0334 a0002c0006t0005g0228 a0002c0006t0005g0253 a0002c0007t0002g0011 a0002c0007t0002g0129 a0002c0007t0003g0046 a0002c0007t0003g0128 a0002c0007t0003g0190 a0002c0007t0003g0243 a0002c0007t0003g0244 a0002c0007t0004g0186 a0002c0007t0004g0187 a0002c0007t0018g0152 a0002c0007t0025g0220 a0002c0009t0002g0016 a0002c0009t0002g0017 a0002c0009t0007g0014 a0002c0009t0007g0036 a0002c0009t0007g0059 a0002c0013t0001g0085 a0002c0013t0001g0091 a0002c0013t0001g0169 a0002c0015t0001g0012 a0002c0015t0001g0125 a0002c0015t0014g0023 a0002c0016t0002g0116 a0002c0016t0002g0117 a0002c0035t0004g0077 a0002c0059t0002g0035 a0002c0061t0001g0057 a0002c0062t0008g0013 a0002c0064t0001g0010 a0002c0065t0002g0130 a0002c0069t0002g0122 a0002c0070t0001g0120 a0002c0071t0001g0038 a0003c0027t0004g0053 a0003c0027t0004g0175 a0003c0028t0003g0218 a0003c0028t0004g0044 a0003c0075t0001g0054 a0003c0076t0001g0291 a0004c0011t0001g0026 a0004c0011t0001g0027 a0004c0011t0001g0028 a0004c0011t0001g0030 a0004c0046t0002g0029 a0005c0029t0021g0048 a0005c0029t0023g0049 a0005c0030t0008g0050 a0005c0030t0008g0219 a0006c0024t0001g0001 a0006c0067t0028g0282 a0006c0068t0017g0039 a0007c0017t0002g0043 a0007c0017t0002g0217 a0007c0073t0002g0031 a0008c0021t0002g0157 a0008c0021t0002g0195 a0009c0041t0003g0055 a0009c0042t0002g0056 a0010c0025t0012g0335 a0010c0025t0012g0336 a0011c0074t0001g0018 a0012c0077t0001g0222 a0013c0037t0002g0051 a0014c0034t0002g0092 a0015c0057t0001g0093 a0016c0032t0001g0168 a0017c0048t0001g0045 a0018c0056t0001g0015 a0019c0052t0004g0327 a0020c0053t0010g0239 a0021c0058t0002g0315 a0022c0066t0002g0041 a0023c0060t0024g0047 a0024c0036t0010g0094 a0025c0063t0001g0198	338	340	0.9941	25	c.21 others(36): Show c.2145_*2146insGAGAAGAGAGTAGGAAAAAGGAGGG	SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	28/28	2145		chr3	TogoVar
SCN8A_chr12_51586233_51817864	51639493	T T	TAGCCTCG others(18): Show TAGCCTCGAACTCCCTGACTCAAGTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02257.hp2 others(3): Show HG01884.hp2 HG02055.hp2 HG02257.hp2 HG02258.hp2 HG02886.hp2 HG03453.hp2	a0001 a0001	a0001c0003 a0001c0006 a0001c0007 others(2): Show a0001c0003 a0001c0006 a0001c0007 a0001c0010 a0001c0012	a0001c0003t0009 a0001c0003t0015 a0001c0006t0001 others(3): Show a0001c0003t0009 a0001c0003t0015 a0001c0006t0001 a0001c0007t0004 a0001c0010t0024 a0001c0012t0025	a0001c0003t0009g0114 a0001c0003t0015g0115 a0001c0006t0001g0103 others(3): Show a0001c0003t0009g0114 a0001c0003t0015g0115 a0001c0006t0001g0103 a0001c0007t0004g0104 a0001c0010t0024g0112 a0001c0012t0025g0113	6	202	0.0297	25	c.-54 others(44): Show c.-54-23269_-54-23245dupGCCTCGAACTCCCTGACTCAAGTGA	SCN8A	ENSG00000196876.19	transcript	ENST00000354534.11	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
SCN8A_chr12_51586233_51817864	51677056	G G	GTTTTATT others(18): Show GTTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0057 a0001c0001t0004g0057	1	202	0.0050	25	c.277 others(42): Show c.277-7087_277-7063dupTTTTATTTTATTTTATTTTATTTTA	SCN8A	ENSG00000196876.19	transcript	ENST00000354534.11	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
SCN8A_chr12_51586233_51817864	51721095	A A	ATATATAT others(18): Show ATATATATATAATATTTATTTATTGT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0108 a0001c0001t0016g0108	1	202	0.0050	25	c.163 others(42): Show c.1636-441_1636-440insATATTTATTTATTGTTATATATATA	SCN8A	ENSG00000196876.19	transcript	ENST00000354534.11	protein_coding	11/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
SCNN1D_chr1_1275436_1297025	1289847	G G	GTCTCTGC others(18): Show GTCTCTGCTCCGTCCCGTGTCTCTGC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	290	0.0035	25	c.166 others(42): Show c.1663-422_1663-421insTCTGCTCCGTCCCGTGTCTCTGCTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289848	T T	TCTCTGCC others(18): Show TCTCTGCCCCGTCCCGTGTCTCTGCC	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0038 a0002c0003t0002g0038	1	290	0.0035	25	c.166 others(42): Show c.1663-422_1663-421insTCTGCCCCGTCCCGTGTCTCTGCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCP2_chr1_52922276_53056698	53037905	C C	CACACAGA others(18): Show CACACAGATCCAGATCCTGTCTCTAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03209.hp1 HG02647.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0010 a0001c0001t0002g0011	2	280	0.0071	25	c.133 others(44): Show c.1339-1007_1339-1006insGATCCAGATCCTGTCTCTATACACA	SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCRN1_chr7_29915109_29994801	29932651	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0035 a0002c0002t0035	a0002c0002t0035g0231 a0002c0002t0035g0231	1	274	0.0037	25	c.905 others(42): Show c.905+3880_905+3904dupTTTTTTTTTTTTTTTTTTTTTTTTT	SCRN1	ENSG00000136193.17	transcript	ENST00000242059.10	protein_coding	6/7			chr7	TogoVar
SCUBE1_chr22_43192280_43348372	43280421	T T	TGTCCCTT others(18): Show TGTCCCTTCCCCTCACCCATCCTCCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02486.hp2 HG02723.hp1 others(9): Show HG02109.hp2 HG02486.hp2 HG02723.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03471.hp2 NA18944.hp1 NA20129.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0009	a0001c0012 a0001c0020 a0001c0021 others(4): Show a0001c0012 a0001c0020 a0001c0021 a0002c0002 a0005c0030 a0005c0031 a0009c0056	a0001c0012t0096 a0001c0020t0005 a0001c0020t0017 others(8): Show a0001c0012t0096 a0001c0020t0005 a0001c0020t0017 a0001c0021t0005 a0001c0021t0022 a0002c0002t0013 a0002c0002t0095 a0005c0030t0014 a0005c0031t0005 a0005c0031t0017 a0009c0056t0084	a0001c0012t0096g0277 a0001c0020t0005g0026 a0001c0020t0017g0014 others(9): Show a0001c0012t0096g0277 a0001c0020t0005g0026 a0001c0020t0017g0014 a0001c0021t0005g0076 a0001c0021t0022g0075 a0002c0002t0013g0062 a0002c0002t0095g0278 a0005c0030t0014g0239 a0005c0030t0014g0240 a0005c0031t0005g0256 a0005c0031t0017g0009 a0009c0056t0084g0262	12	280	0.0429	25	c.484 others(44): Show c.484+10624_484+10625insGGGAGGATGGGTGAGGGGAAGGGAC	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43280444	C C	CCTGTCCC others(18): Show CCTGTCCCTTCCCCTCACCCATCCTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02572.hp2 HG02630.hp2 others(8): Show HG01243.hp1 HG02572.hp2 HG02630.hp2 HG02717.hp1 HG02723.hp2 HG02886.hp2 HG03225.hp1 HG03471.hp1 NA18906.hp1 NA20300.hp1 NA21309.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0009	a0001c0004 a0001c0008 a0001c0010 others(6): Show a0001c0004 a0001c0008 a0001c0010 a0001c0024 a0002c0009 a0002c0014 a0002c0025 a0007c0023 a0009c0058	a0001c0004t0016 a0001c0008t0032 a0001c0010t0074 others(8): Show a0001c0004t0016 a0001c0008t0032 a0001c0010t0074 a0001c0024t0094 a0002c0009t0005 a0002c0014t0014 a0002c0014t0026 a0002c0025t0034 a0002c0025t0073 a0007c0023t0093 a0009c0058t0004	a0001c0004t0016g0015 a0001c0008t0032g0010 a0001c0010t0074g0071 others(8): Show a0001c0004t0016g0015 a0001c0008t0032g0010 a0001c0010t0074g0071 a0001c0024t0094g0271 a0002c0009t0005g0137 a0002c0014t0014g0260 a0002c0014t0026g0235 a0002c0025t0034g0018 a0002c0025t0073g0258 a0007c0023t0093g0268 a0009c0058t0004g0263	11	280	0.0393	25	c.484 others(44): Show c.484+10601_484+10602insCAGGATGGGTGAGGGGAAGGGACAG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43280542	C C	CCTGTCCC others(18): Show CCTGTCCCTTCCCCTCACCCATCCTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18954.hp1 NA19002.hp2 others(1): Show HG00408.hp2 NA18954.hp1 NA19002.hp2 NA19068.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0001 a0003c0007 a0002c0002 a0003c0001 a0003c0007	a0002c0002t0001 a0002c0002t0061 a0003c0001t0001 others(1): Show a0002c0002t0001 a0002c0002t0061 a0003c0001t0001 a0003c0007t0001	a0002c0002t0001g0205 a0002c0002t0061g0176 a0003c0001t0001g0158 others(1): Show a0002c0002t0001g0205 a0002c0002t0061g0176 a0003c0001t0001g0158 a0003c0007t0001g0193	4	280	0.0143	25	c.484 others(44): Show c.484+10503_484+10504insAAGGATGGGTGAGGGGAAGGGACAG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE2_chr11_9014476_9096599	9054725	A A	ATATATAT others(18): Show ATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0314 a0001c0001t0002g0314	1	358	0.0028	25	c.120 others(42): Show c.1208-967_1208-966insAAATATATATATATATATATATATA	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22			chr11	TogoVar
SCUBE2_chr11_9014476_9096599	9054725	A A	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18943.hp2 NA18980.hp2 others(2): Show HG00621.hp2 NA18943.hp2 NA18980.hp2 NA19002.hp2 NA19011.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0004 a0002c0002t0001 a0004c0004t0007 a0001c0001t0004 a0002c0002t0001 a0004c0004t0007	a0001c0001t0004g0230 a0001c0001t0004g0232 a0002c0002t0001g0080 others(2): Show a0001c0001t0004g0230 a0001c0001t0004g0232 a0002c0002t0001g0080 a0002c0002t0001g0092 a0004c0004t0007g0239	5	358	0.0140	25	c.120 others(42): Show c.1208-967_1208-966insAAAAATATATATATATATATATATA	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22			chr11	TogoVar
SCUBE2_chr11_9014476_9096599	9054725	A A	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01099.hp1 NA19084.hp2 HG00735.hp2 HG01099.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0231 a0001c0001t0004g0341 a0001c0001t0004g0342 a0001c0001t0004g0231 a0001c0001t0004g0341 a0001c0001t0004g0342	3	358	0.0084	25	c.120 others(42): Show c.1208-967_1208-966insAAAAAAATATATATATATATATATA	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22			chr11	TogoVar
SCUBE2_chr11_9014476_9096599	9057540	A A	ATGGAGTC others(18): Show ATGGAGTCTCGCTCTATCCCCCAGGC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0022 a0022	a0022c0029 a0022c0029	a0022c0029t0001 a0022c0029t0001	a0022c0029t0001g0187 a0022c0029t0001g0187	1	358	0.0028	25	c.109 others(44): Show c.1091-1656_1091-1632dupGCCTGGGGGATAGAGCGAGACTCCA	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	9/22			chr11	TogoVar
SCYGR1_chr2_227382683_227392949	227389878	T T	TTTTTCTT others(18): Show TTTTTCTTTTCTTTTCTTTTCTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01099.hp1 HG01891.hp1 others(5): Show HG00639.hp2 HG01099.hp1 HG01891.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03654.hp1 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0000 a0002c0002t0000	a0002c0002t0000g0000 a0002c0002t0000g0000	8	454	0.0176	25	c.-19 others(36): Show c.-1930_-1929insGAAAAGAAAAGAAAAGAAAAGAAAA	SCYGR1	ENSG00000284629.1	transcript	ENST00000641359.1	protein_coding		1930		chr2	TogoVar
SCYGR8_chr2_227740894_227751220	227741967	T T	TATAAAAT others(18): Show TATAAAATAAAATAAAATAAAATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	457	0.0022	25	c.-39 others(36): Show c.-3927_-3926insATAAAATAAAATAAAATAAAATAAA	SCYGR8	ENSG00000284635.2	transcript	ENST00000641981.2	protein_coding		3926		chr2	TogoVar
SCYGR8_chr2_227740894_227751220	227750651	C C	CAATAAAA others(18): Show CAATAAAATAAAATAAAATAAAATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00639.hp2 others(35): Show HG00099.hp2 HG00140.hp1 HG00639.hp2 HG01099.hp2 HG01168.hp2 HG01255.hp2 HG01261.hp2 HG01358.hp2 HG02040.hp1 HG02055.hp2 HG02109.hp1 HG02451.hp2 HG02615.hp2 HG02647.hp2 HG02717.hp1 HG02818.hp2 HG02895.hp2 HG02922.hp1 HG03041.hp1 HG03130.hp2 HG03225.hp1 HG03669.hp2 HG03831.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18945.hp2 NA18966.hp2 NA18971.hp2 NA18976.hp1 NA18979.hp2 NA18984.hp1 NA18993.hp1 NA19002.hp2 NA19079.hp2 NA20129.hp1 NA20805.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0006 a0007	a0001c0001 a0001c0006 a0002c0002 others(4): Show a0001c0001 a0001c0006 a0002c0002 a0004c0004 a0005c0005 a0006c0007 a0007c0010	a0001c0001t0000 a0001c0006t0000 a0002c0002t0000 others(4): Show a0001c0001t0000 a0001c0006t0000 a0002c0002t0000 a0004c0004t0000 a0005c0005t0000 a0006c0007t0000 a0007c0010t0000	a0001c0001t0000g0000 a0001c0006t0000g0000 a0002c0002t0000g0000 others(4): Show a0001c0001t0000g0000 a0001c0006t0000g0000 a0002c0002t0000g0000 a0004c0004t0000g0000 a0005c0005t0000g0000 a0006c0007t0000g0000 a0007c0010t0000g0000	38	457	0.0832	25	c.44 others(36): Show c.4431_*4432insAATAAAATAAAATAAAATAAAATAA	SCYGR8	ENSG00000284635.2	transcript	ENST00000641981.2	protein_coding		4432		chr2	TogoVar
SCYGR8_chr2_227740894_227751220	227750651	C C	CAATAAAA others(18): Show CAATAAAATAAAATAAAATAACATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0000 a0002c0008t0000	a0002c0008t0000g0000 a0002c0008t0000g0000	1	457	0.0022	25	c.44 others(36): Show c.4431_*4432insAATAAAATAAAATAAAATAACATAA	SCYGR8	ENSG00000284635.2	transcript	ENST00000641981.2	protein_coding		4432		chr2	TogoVar
SCYL1_chr11_65520083_65543704	65524847	G G	GCCCCGCC others(18): Show GCCCCGCCCCTCCCTAGCCCCCCCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00408.hp2 others(73): Show HG00099.hp2 HG00140.hp2 HG00408.hp2 HG00558.hp1 HG00609.hp2 HG00621.hp2 HG00733.hp1 HG01074.hp2 HG01081.hp2 HG01243.hp1 HG01243.hp2 HG01516.hp2 HG01891.hp2 HG01934.hp2 HG02015.hp1 HG02071.hp2 HG02109.hp1 HG02129.hp2 HG02145.hp2 HG02155.hp1 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp2 HG03669.hp2 HG03834.hp1 HG06807.hp1 HG06807.hp2 NA18940.hp2 NA18946.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18962.hp2 NA18980.hp2 NA18999.hp2 NA19002.hp1 NA19007.hp2 NA19043.hp1 NA19057.hp2 NA19060.hp1 NA19067.hp1 NA19084.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0005c0009 a0001c0001 a0001c0003 a0005c0009	a0001c0001t0001 a0001c0003t0001 a0005c0009t0001 a0001c0001t0001 a0001c0003t0001 a0005c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0039 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0003t0001g0046 a0005c0009t0001g0040	76	278	0.2734	25	c.-30 others(34): Show c.-307_-306insCCCCGCCCCTCCCTAGCCCCCCCAT	SCYL1	ENSG00000142186.18	transcript	ENST00000270176.10	protein_coding		235		chr11	TogoVar
SCYL3_chr1_169844631_169898896	169851045	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0081	a0001c0001t0081g0276 a0001c0001t0081g0276	1	418	0.0024	25	c.26 others(36): Show c.2643_*2667dupAAAAAAAAAAAAAAAAAAAAAAAAA	SCYL3	ENSG00000000457.14	transcript	ENST00000367771.11	protein_coding	13/13	2667		chr1	TogoVar
SDC2_chr8_96488813_96616790	96565084	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0327 a0001c0003t0003g0327	1	334	0.0030	25	c.61- others(42): Show c.61-28381_61-28380insTTTTTTTTTTTTTTTTTTTTTTTTT	SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
SDCCAG8_chr1_243251041_243505091	243294526	A A	AGAGAGAG others(18): Show AGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG06807.hp1 HG03704.hp2 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0002 a0002c0003t0002 a0001c0002t0002 a0002c0003t0002	a0001c0002t0002g0029 a0002c0003t0002g0121 a0001c0002t0002g0029 a0002c0003t0002g0121	2	189	0.0106	25	c.675 others(42): Show c.675+1307_675+1308insGAGAGAGAGAGAGAGAGAGAGAGAG	SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	6/17			chr1	TogoVar
SDF2_chr17_28643346_28666906	28663828	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG03486.hp2 HG06807.hp1 HG00140.hp1 HG03486.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0110 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0001g0110 a0001c0001t0002g0003 a0001c0001t0002g0004	3	398	0.0075	25	c.-19 others(36): Show c.-1953_-1952insAAAAAAAAAAAAAAAAAAAAAAAAA	SDF2	ENSG00000132581.10	transcript	ENST00000247020.9	protein_coding		1923		chr17	TogoVar
SDHAF2_chr11_61425124_61451733	61434591	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0111 a0001c0001t0003g0111	1	238	0.0042	25	c.37- others(40): Show c.37-3015_37-3014insTTTTTTTTTTTTTTTTTTTTTTTTT	SDHAF2	ENSG00000167985.7	transcript	ENST00000301761.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
SDHAF3_chr7_97112698_97186763	97183901	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00735.hp2 HG02280.hp2 others(6): Show HG00423.hp1 HG00735.hp2 HG02280.hp2 HG02300.hp2 HG02486.hp1 HG02896.hp1 HG03540.hp1 NA18950.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0010 a0001c0001t0001g0269 a0001c0001t0001g0271 others(6): Show a0001c0001t0001g0010 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0295 a0001c0001t0001g0339 a0001c0001t0001g0368 a0001c0001t0002g0031 a0001c0001t0002g0080 a0001c0001t0002g0190	9	402	0.0224	25	c.26 others(36): Show c.2686_*2687insTTTTTTTTTTTTTTTTTTTTTTTTT	SDHAF3	ENSG00000196636.8	transcript	ENST00000432641.3	protein_coding		2139		chr7	TogoVar

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