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
RTBDN_chr19_12820482_12839579	12832722	ACAGAGAT others(18): Show ACAGAGATAACCCAGGCAAAGGCGCG	A A	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	430	0.0023	-25	c.-19 others(42): Show c.-19+1742_-19+1766delCGCGCCTTTGCCTGGGTTATCTCTG	RTBDN	ENSG00000132026.15	transcript	ENST00000674343.2	protein_coding	1/5			chr19	TogoVar
RTF1_chr15_41412095_41488563	41488069	TACACCAC others(18): Show TACACCACAAACATAACCCCCCACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0127 a0001c0001t0002g0127	1	226	0.0044	-25	c.73 others(36): Show c.7383_*7407delACACCACAAACATAACCCCCCACAC	RTF1	ENSG00000137815.15	transcript	ENST00000389629.9	protein_coding		4507		chr15	TogoVar
RTL1_chr14_100874753_100908722	100907363	AGCTGTGG others(18): Show AGCTGTGGTGCTGGAGCTGCTCAGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0023 a0002c0002t0023	a0002c0002t0023g0336 a0002c0002t0023g0336	1	430	0.0023	-25	c.-40 others(36): Show c.-4028_-4004delCACTGAGCAGCTCCAGCACCACAGC	RTL1	ENSG00000254656.3	transcript	ENST00000649591.1	protein_coding		3642		chr14	TogoVar
RTL4_chrX_112078016_112462514	112169067	TCTTTTTT others(18): Show TCTTTTTTCTTTCTTTCTTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp2 NA18906.hp1 HG02622.hp1 HG02622.hp2 NA18906.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0003 a0003c0004 a0001c0002 a0001c0003 a0003c0004	a0001c0002t0019 a0001c0003t0003 a0003c0004t0001 a0001c0002t0019 a0001c0003t0003 a0003c0004t0001	a0001c0002t0019g0127 a0001c0003t0003g0123 a0003c0004t0001g0116 a0001c0002t0019g0127 a0001c0003t0003g0123 a0003c0004t0001g0116	3	134	0.0224	-25	c.-44 others(46): Show c.-445+37967_-445+37991delCTTTTTTCTTTCTTTCTTTTCTTT C	RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding	2/4			chrX	TogoVar
RTP2_chr3_187693259_187707557	187698452	CCCACTCT others(18): Show CCCACTCTCAAGCCCATGTGCCCTCT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0027 a0002c0002t0007g0027	2	422	0.0047	-25	c.21 others(32): Show c.21_*45delAGAGGGCACATGGGCTTGAGAGTGG	RTP2	ENSG00000198471.1	transcript	ENST00000358241.1	protein_coding	2/2	21		chr3	TogoVar
RTTN_chr18_69998031_70210687	70184707	TTTTTTTT others(18): Show TTTTTTTTTTTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02257.hp1 HG02258.hp1 others(3): Show HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02630.hp1 HG02647.hp1 HG03471.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0145 a0006c0007t0001g0146 a0006c0007t0001g0147 others(3): Show a0006c0007t0001g0145 a0006c0007t0001g0146 a0006c0007t0001g0147 a0006c0007t0001g0148 a0006c0007t0001g0149 a0006c0007t0001g0150	6	156	0.0385	-25	c.130 others(44): Show c.1305+3376_1305+3400delCACACACACACACACAAAAAAAAAA	RTTN	ENSG00000176225.15	transcript	ENST00000640769.2	protein_coding	10/48			chr18	TogoVar
RUFY2_chr10_68338408_68412277	68411823	CTAAAATA others(18): Show CTAAAATATGTAGTGTTTGAACTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	276	0.0036	-25	c.-46 others(36): Show c.-4659_-4635delAGAAGTTCAAACACTACATATTTTA	RUFY2	ENSG00000204130.14	transcript	ENST00000602465.6	protein_coding		4547		chr10	TogoVar
RUNDC3B_chr7_87623398_87837296	87736871	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0018 a0001c0001t0058g0018	1	202	0.0050	-25	c.459 others(42): Show c.459-2918_459-2894delATATATATATATATATATTTTTTTT	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87736873	ATATATAT others(18): Show ATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0015 a0001c0001t0060g0015	1	202	0.0050	-25	c.459 others(42): Show c.459-2916_459-2892delATATATATATATATATTTTTTTTTT	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
RUNX3_chr1_24894511_24935276	24908099	GAACCTCT others(18): Show GAACCTCTACGACACGCGGTGATCCA	G G	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0260 a0001c0001t0057g0260	1	386	0.0026	-25	c.545 others(40): Show c.545-707_545-683delTGGATCACCGCGTGTCGTAGAGGTT	RUNX3	ENSG00000020633.19	transcript	ENST00000308873.11	protein_coding	3/4			chr1	TogoVar
RUNX3_chr1_24894511_24935276	24908108	CGACACGC others(18): Show CGACACGCGGTGATCCAAACCTCTAT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01074.hp1 HG01099.hp2 others(34): Show HG00642.hp2 HG01074.hp1 HG01099.hp2 HG01167.hp1 HG01168.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG02015.hp1 HG02040.hp1 HG02080.hp2 HG02129.hp1 HG02258.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02622.hp1 HG02630.hp1 HG02683.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG03139.hp2 HG03453.hp1 HG03486.hp2 HG03490.hp1 NA18945.hp1 NA18962.hp1 NA18975.hp1 NA19055.hp1 NA19065.hp1 NA19074.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 a0001c0001t0018 a0001c0001t0027 a0001c0001t0028 a0001c0001t0037 a0001c0001t0038 a0001c0001t0054	a0001c0001t0001g0023 a0001c0001t0001g0042 a0001c0001t0001g0247 others(23): Show a0001c0001t0001g0023 a0001c0001t0001g0042 a0001c0001t0001g0247 a0001c0001t0002g0011 a0001c0001t0002g0019 a0001c0001t0002g0029 a0001c0001t0002g0058 a0001c0001t0002g0095 a0001c0001t0002g0101 a0001c0001t0002g0131 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0003g0087 a0001c0001t0004g0021 a0001c0001t0004g0187 a0001c0001t0014g0108 a0001c0001t0014g0109 a0001c0001t0014g0149 a0001c0001t0018g0135 a0001c0001t0027g0050 a0001c0001t0028g0051 a0001c0001t0037g0104 a0001c0001t0038g0103 a0001c0001t0054g0257	37	386	0.0959	-25	c.545 others(40): Show c.545-716_545-692delATAGAGGTTTGGATCACCGCGTGTC	RUNX3	ENSG00000020633.19	transcript	ENST00000308873.11	protein_coding	3/4			chr1	TogoVar
RXRA_chr9_134321455_134445585	134368917	GTGTGTGT others(18): Show GTGTGTGTGAGTGCGGGGGTTATGTA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0101 a0001c0001t0010g0101	1	232	0.0043	-25	c.29- others(42): Show c.29-32694_29-32670delATGTATGTGTGTGAGTGCGGGGGTT	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
RXRA_chr9_134321455_134445585	134441807	TCTGGGCC others(18): Show TCTGGGCCACTCCCTGGGCCCCCAAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0156 a0001c0001t0062g0156	1	232	0.0043	-25	c.51 others(36): Show c.5194_*5218delCTGGGCCACTCCCTGGGCCCCCAAC	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding		1223		chr9	TogoVar
RYR1_chr19_38428691_38592564	38441643	ACTGGGGG others(18): Show ACTGGGGGCTGAGAGGTGGAAGGAGC	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01884.hp1 HG02615.hp2 others(3): Show HG00642.hp2 HG01884.hp1 HG02615.hp2 HG02970.hp1 HG03139.hp2 NA19043.hp2	a0001 a0004 a0016 a0001 a0004 a0016	a0001c0069 a0001c0119 a0004c0015 others(1): Show a0001c0069 a0001c0119 a0004c0015 a0016c0106	a0001c0069t0001 a0001c0119t0001 a0004c0015t0001 others(1): Show a0001c0069t0001 a0001c0119t0001 a0004c0015t0001 a0016c0106t0001	a0001c0069t0001g0139 a0001c0119t0001g0189 a0004c0015t0001g0098 others(3): Show a0001c0069t0001g0139 a0001c0119t0001g0189 a0004c0015t0001g0098 a0004c0015t0001g0187 a0004c0015t0001g0188 a0016c0106t0001g0099	6	218	0.0275	-25	c.166 others(40): Show c.166-699_166-675delGCTGAGAGGTGGAAGGAGCCTGGGG	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	2/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR1_chr19_38428691_38592564	38590385	AAAAAAAA others(18): Show AAAAAAAAAAATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	218	0.0046	-25	c.29 others(36): Show c.2966_*2990delAAAAAAAAAATATATATATATATAT	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding		2822		chr19	TogoVar
RYR2_chr1_237037184_237838988	237117671	CCTTCTCT others(18): Show CCTTCTCTTCTCTTCTCTTCTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01243.hp2 HG01928.hp2 others(5): Show HG00280.hp2 HG01243.hp2 HG01928.hp2 HG01981.hp1 HG02257.hp2 HG02572.hp2 HG03669.hp2 NA19043.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0029 a0001c0044 a0006c0020	a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 others(5): Show a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 a0001c0002t0031 a0001c0005t0034 a0001c0029t0008 a0001c0044t0002 a0006c0020t0001	a0001c0001t0003g0100 a0001c0002t0001g0070 a0001c0002t0003g0008 others(5): Show a0001c0001t0003g0100 a0001c0002t0001g0070 a0001c0002t0003g0008 a0001c0002t0031g0033 a0001c0005t0034g0028 a0001c0029t0008g0090 a0001c0044t0002g0014 a0006c0020t0001g0015	8	100	0.0800	-25	c.48+ others(42): Show c.48+75165_48+75189delTCTCTTCTCTTCTCTTCTCTTCTCT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237350591	AAAAAAAA others(18): Show AAAAAAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0008 a0001c0002t0003g0008	1	100	0.0100	-25	c.274 others(42): Show c.274-5372_274-5348delAAAAAAAAAAATATATATATATATA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	3/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR3_chr15_33305967_33871102	33789636	ATATATAT others(18): Show ATATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	154	0.0065	-25	c.983 others(44): Show c.9830+1180_9830+1204delATATATATATATATATATATATTTT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33789646	ATATATAT others(18): Show ATATATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0048 a0048	a0048c0109 a0048c0109	a0048c0109t0005 a0048c0109t0005	a0048c0109t0005g0040 a0048c0109t0005g0040	1	154	0.0065	-25	c.983 others(44): Show c.9830+1190_9830+1214delATATATATATATTTTTTTTTTTTTT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
SAMD14_chr17_50105040_50135160	50131534	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01891.hp1 HG02040.hp2 others(8): Show HG01243.hp2 HG01891.hp1 HG02040.hp2 HG02080.hp1 HG02622.hp2 HG03139.hp2 HG03516.hp2 HG03942.hp2 NA19074.hp1 NA19091.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0010 a0001c0004t0007 a0001c0001t0010 a0001c0004t0007	a0001c0001t0010g0005 a0001c0001t0010g0038 a0001c0001t0010g0238 others(3): Show a0001c0001t0010g0005 a0001c0001t0010g0038 a0001c0001t0010g0238 a0001c0001t0010g0239 a0001c0001t0010g0240 a0001c0004t0007g0241	11	398	0.0276	-25	c.-20 others(36): Show c.-2055_-2031delTTTTTTTTTTTTTTTTTTTTTTTTT	SAMD14	ENSG00000167100.15	transcript	ENST00000330175.9	protein_coding		1375		chr17	TogoVar
SAMD15_chr14_77372379_77397163	77372907	TATATATA others(18): Show TATATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0037 a0002c0002t0002g0037	1	314	0.0032	-25	c.-45 others(36): Show c.-4511_-4487delATATATATATATATATATATATATA	SAMD15	ENSG00000100583.5	transcript	ENST00000216471.5	protein_coding		4471		chr14	TogoVar
SAMD15_chr14_77372379_77397163	77372928	ATATATAT others(18): Show ATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0004 a0002c0006t0004	a0002c0006t0004g0084 a0002c0006t0004g0084	1	314	0.0032	-25	c.-44 others(36): Show c.-4490_-4466delTATATATATATATATATATATATAT	SAMD15	ENSG00000100583.5	transcript	ENST00000216471.5	protein_coding		4450		chr14	TogoVar
SAMD15_chr14_77372379_77397163	77372930	ATATATAT others(18): Show ATATATATATATATATATATATATTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02976.hp2 HG02109.hp2 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0002 a0002c0004t0004 a0002c0002t0002 a0002c0004t0004	a0002c0002t0002g0134 a0002c0004t0004g0008 a0002c0002t0002g0134 a0002c0004t0004g0008	2	314	0.0064	-25	c.-44 others(36): Show c.-4488_-4464delTATATATATATATATATATATATTT	SAMD15	ENSG00000100583.5	transcript	ENST00000216471.5	protein_coding		4448		chr14	TogoVar
SAMD15_chr14_77372379_77397163	77372932	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0008 a0002c0004t0004g0008	1	314	0.0032	-25	c.-44 others(36): Show c.-4486_-4462delTATATATATATATATATATATTTTT	SAMD15	ENSG00000100583.5	transcript	ENST00000216471.5	protein_coding		4446		chr14	TogoVar
SAR1A_chr10_70142289_70175514	70175285	CTTGCCTG others(18): Show CTTGCCTGGGCCTCCCCAAATGTTGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0042 a0001c0001t0012g0042	1	420	0.0024	-25	c.-49 others(36): Show c.-4914_-4890delTCAACATTTGGGGAGGCCCAGGCAA	SAR1A	ENSG00000079332.16	transcript	ENST00000373241.9	protein_coding		4772		chr10	TogoVar
SAR1B_chr5_134596149_134637828	134612641	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0203 a0001c0001t0007g0203	1	322	0.0031	-25	c.244 others(38): Show c.244+25_244+49delTTTTTTTTTTTTTTTTTTTTTTTTT	SAR1B	ENSG00000152700.14	transcript	ENST00000402673.7	protein_coding	4/6			chr5	TogoVar
SARS1_chr1_109208918_109243182	109222002	ATATATAT others(18): Show ATATATATATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	402	0.0025	-25	c.137 others(42): Show c.137-1974_137-1950delATATATATTTTTTTTTTTTTTTTTT	SARS1	ENSG00000031698.13	transcript	ENST00000234677.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAT1_chrX_23778173_23791210	23789050	CCATTGCC others(18): Show CCATTGCCCAGGCTGGAGTGCAGTGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	330	0.0030	-25	c.31 others(36): Show c.3195_*3219delCATTGCCCAGGCTGGAGTGCAGTGG	SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding		2841		chrX	TogoVar
SBK2_chr19_55523611_55542133	55533659	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	434	0.0023	-25	c.254 others(42): Show c.254-2339_254-2315delTTTTTTTTTTTTTTTTTTTTTTTTT	SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding	2/3			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1157395	GCTCTCCC others(18): Show GCTCTCCCCACGCGGCCCCGGAGACC	G G	intron_variant intron_variant	MODIFIER	HG04228.hp1 NA18945.hp2 HG04228.hp1 NA18945.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0001 a0001c0002t0001 a0001c0005t0001	a0001c0002t0001g0203 a0001c0005t0001g0045 a0001c0002t0001g0203 a0001c0005t0001g0045	2	203	0.0099	-25	c.-12 others(44): Show c.-126-3018_-126-2994delGGTCTCCGGGGCCGCGTGGGGAGAG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SCAI_chr9_124937608_125148528	125092131	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00438.hp1 others(55): Show HG00099.hp1 HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG01069.hp1 HG01071.hp2 HG01109.hp2 HG01255.hp2 HG01884.hp1 HG01952.hp2 HG01981.hp2 HG02027.hp1 HG02071.hp2 HG02280.hp1 HG02523.hp2 HG02572.hp1 HG02630.hp1 HG02698.hp1 HG02922.hp2 HG03490.hp1 HG03492.hp2 HG03654.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 NA18612.hp2 NA18943.hp1 NA18944.hp1 NA18953.hp1 NA18955.hp1 NA18961.hp1 NA18973.hp2 NA18977.hp1 NA18983.hp1 NA18987.hp2 NA18988.hp2 NA18999.hp1 NA19000.hp1 NA19003.hp2 NA19005.hp1 NA19010.hp2 NA19054.hp2 NA19060.hp2 NA19065.hp2 NA19079.hp2 NA19080.hp2 NA19084.hp1 NA19088.hp2 NA19091.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0005 a0001c0001 a0001c0006 a0002c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(18): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0013 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0050 a0001c0001t0064 a0001c0001t0065 a0001c0001t0072 a0001c0001t0074 a0001c0001t0075 a0001c0006t0041 a0002c0005t0039	a0001c0001t0002g0189 a0001c0001t0002g0193 a0001c0001t0002g0194 others(55): Show a0001c0001t0002g0189 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0159 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0178 a0001c0001t0004g0191 a0001c0001t0006g0190 a0001c0001t0006g0223 a0001c0001t0013g0134 a0001c0001t0013g0160 a0001c0001t0013g0161 a0001c0001t0013g0177 a0001c0001t0017g0192 a0001c0001t0017g0195 a0001c0001t0017g0198 a0001c0001t0019g0151 a0001c0001t0019g0155 a0001c0001t0020g0141 a0001c0001t0020g0164 a0001c0001t0020g0167 a0001c0001t0021g0149 a0001c0001t0036g0139 a0001c0001t0037g0136 a0001c0001t0038g0137 a0001c0001t0040g0138 a0001c0001t0050g0179 a0001c0001t0064g0158 a0001c0001t0065g0140 a0001c0001t0072g0154 a0001c0001t0074g0172 a0001c0001t0075g0150 a0001c0006t0041g0135 a0002c0005t0039g0219	58	306	0.1895	-25	c.99- others(42): Show c.99-36149_99-36125delTTTTTTTTTTTTTTTTTTTTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAMP1_chr5_78355617_78485739	78392021	GAGAGAGG others(18): Show GAGAGAGGGAGAGGGAGACCGTGGAA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(205): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02145.hp1 HG02148.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.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 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18959.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp2 NA18966.hp1 NA18968.hp2 NA18973.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18987.hp2 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA19001.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19057.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19076.hp1 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19084.hp1 NA19087.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0003 a0003c0004 others(1): Show a0001c0001 a0002c0003 a0003c0004 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0040 a0001c0001t0041 a0002c0003t0007 a0003c0004t0001 a0004c0005t0020	a0001c0001t0001g0157 a0001c0001t0001g0174 a0001c0001t0001g0175 others(204): Show a0001c0001t0001g0157 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0002g0002 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0003g0314 a0001c0001t0004g0320 a0001c0001t0005g0141 a0001c0001t0005g0143 a0001c0001t0005g0144 a0001c0001t0005g0145 a0001c0001t0005g0146 a0001c0001t0005g0147 a0001c0001t0005g0148 a0001c0001t0005g0149 a0001c0001t0005g0150 a0001c0001t0005g0151 a0001c0001t0005g0152 a0001c0001t0005g0153 a0001c0001t0005g0263 a0001c0001t0005g0264 a0001c0001t0006g0003 a0001c0001t0006g0006 a0001c0001t0006g0127 a0001c0001t0006g0130 a0001c0001t0006g0131 a0001c0001t0006g0132 a0001c0001t0006g0133 a0001c0001t0006g0134 a0001c0001t0006g0135 a0001c0001t0006g0136 a0001c0001t0006g0137 a0001c0001t0008g0176 a0001c0001t0008g0177 a0001c0001t0008g0178 a0001c0001t0008g0179 a0001c0001t0008g0180 a0001c0001t0008g0181 a0001c0001t0008g0262 a0001c0001t0011g0156 a0001c0001t0011g0158 a0001c0001t0011g0216 a0001c0001t0015g0194 a0001c0001t0015g0195 a0001c0001t0017g0154 a0001c0001t0017g0155 a0001c0001t0019g0210 a0001c0001t0019g0214 a0001c0001t0020g0328 a0001c0001t0021g0109 a0001c0001t0021g0110 a0001c0001t0022g0128 a0001c0001t0022g0129 a0001c0001t0023g0007 a0001c0001t0024g0193 a0001c0001t0025g0138 a0001c0001t0026g0172 a0001c0001t0027g0173 a0001c0001t0028g0114 a0001c0001t0029g0161 a0001c0001t0030g0142 a0001c0001t0031g0266 a0001c0001t0035g0251 a0001c0001t0036g0329 a0001c0001t0037g0213 a0001c0001t0040g0107 a0001c0001t0041g0224 a0002c0003t0007g0162 a0002c0003t0007g0163 a0002c0003t0007g0164 a0002c0003t0007g0165 a0002c0003t0007g0166 a0002c0003t0007g0167 a0002c0003t0007g0168 a0002c0003t0007g0169 a0002c0003t0007g0170 a0002c0003t0007g0171 a0003c0004t0001g0228 a0003c0004t0001g0229 a0004c0005t0020g0330	208	332	0.6265	-25	c.135 others(42): Show c.135+3150_135+3174delCCGTGGAAAGAGAGGGAGAGGGAGA	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP2_chr15_74838730_74878365	74857318	GCTCTGTG others(18): Show GCTCTGTGTTGCTGAAGAATTGGCCT	G G	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0273 a0001c0001t0022g0273	1	386	0.0026	-25	c.58- others(40): Show c.58-2694_58-2670delAGGCCAATTCTTCAGCAACACAGAG	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding	1/8			chr15	TogoVar
SCARA5_chr8_27864883_27997673	27865578	TATATATA others(18): Show TATATATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0296 a0001c0005t0004g0296	1	314	0.0032	-25	c.63 others(36): Show c.6331_*6355delTATATATATATATATATATATATAT	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding		4304		chr8	TogoVar
SCARA5_chr8_27864883_27997673	27865773	ATATATAT others(18): Show ATATATATATATATATTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0065 a0001c0002t0065	a0001c0002t0065g0313 a0001c0002t0065g0313	1	314	0.0032	-25	c.61 others(36): Show c.6136_*6160delAAAAAAAAAAATATATATATATATA	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding		4109		chr8	TogoVar
SCARA5_chr8_27864883_27997673	27865775	ATATATAT others(18): Show ATATATATATATATTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0189 a0001c0001t0025g0189	1	314	0.0032	-25	c.61 others(36): Show c.6134_*6158delAAAAAAAAAAAAATATATATATATA	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding		4107		chr8	TogoVar
SCFD2_chr4_52867982_53371061	53254805	TTTTTATT others(18): Show TTTTTATTTTATTTTATTTTATTTTA	T T	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02280.hp2 HG02486.hp2 others(7): Show HG01358.hp1 HG02280.hp2 HG02486.hp2 HG02647.hp2 HG02818.hp1 HG02970.hp2 HG03195.hp2 HG03225.hp1 NA18906.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0003t0003 a0001c0001t0001 a0001c0001t0004 a0001c0003t0003	a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 others(7): Show a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0004g0009 a0001c0001t0004g0014 a0001c0003t0003g0007	10	162	0.0617	-25	c.131 others(46): Show c.1311+18996_1311+19020delTAAAATAAAATAAAATAAAATAAA A	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	4/8			chr4	TogoVar
SCG3_chr15_51676503_51726026	51709681	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0086 a0001c0001t0004g0086	1	402	0.0025	-25	c.120 others(44): Show c.1208-3650_1208-3626delATATATATATATATATATATTTTTT	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32663051	ATATATAT others(18): Show ATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00438.hp2 others(30): Show HG00280.hp1 HG00280.hp2 HG00438.hp2 HG00733.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp2 HG01167.hp2 HG01169.hp1 HG01928.hp2 HG02055.hp1 HG02257.hp1 HG02257.hp2 HG02451.hp2 HG02559.hp2 HG02717.hp2 HG03139.hp2 HG03471.hp2 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG04115.hp1 NA18947.hp2 NA18968.hp1 NA18971.hp1 NA18991.hp1 NA19058.hp1 NA19086.hp1 NA19240.hp1 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0106 a0001c0001t0001g0113 a0001c0001t0001g0145 others(29): Show a0001c0001t0001g0106 a0001c0001t0001g0113 a0001c0001t0001g0145 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0202 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0326 a0001c0001t0001g0343 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0369 a0001c0001t0001g0372 a0001c0001t0001g0374 a0001c0001t0001g0395 a0001c0001t0001g0396 a0001c0001t0001g0398 a0001c0001t0002g0001 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0029	33	415	0.0795	-25	c.227 others(44): Show c.227-16714_227-16690delTATATATATATATATATATATATAT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5			chr15	TogoVar
SCGB1C1_chr11_188078_199575	196350	AGGAGGAC others(18): Show AGGAGGACCTGGTGAGGGGACATGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00544.hp1 others(41): Show HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG02040.hp2 HG02080.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02683.hp2 HG02698.hp1 HG03041.hp1 HG03704.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04199.hp1 NA18747.hp1 NA18953.hp2 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18971.hp2 NA18979.hp1 NA19011.hp2 NA19043.hp2 NA19056.hp1 NA19062.hp1 NA19065.hp1 NA19066.hp1 NA19075.hp1 NA19076.hp2 NA19080.hp1 NA19084.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0013 others(1): Show a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0013 a0001c0002t0001g0014	44	354	0.1243	-25	c.19 others(36): Show c.1901_*1925delGGAGGACCTGGTGAGGGGACATGGG	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1776		chr11	TogoVar
SCGN_chr6_25647215_25706783	25658002	CCTTTTTT others(18): Show CCTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01069.hp2 HG01071.hp2 others(34): Show HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01106.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01346.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG02027.hp1 HG02056.hp2 HG02145.hp1 HG02148.hp2 HG02273.hp1 HG02602.hp2 HG02723.hp2 HG03017.hp2 HG03139.hp2 HG03239.hp2 HG03490.hp1 HG03831.hp2 HG03834.hp2 HG04228.hp1 NA18943.hp1 NA18945.hp1 NA18959.hp2 NA18974.hp1 NA18982.hp1 NA19007.hp2 NA19054.hp1 NA19064.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006	a0001c0001t0002g0331 a0001c0001t0002g0333 a0001c0001t0003g0332 others(30): Show a0001c0001t0002g0331 a0001c0001t0002g0333 a0001c0001t0003g0332 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0287 a0001c0001t0004g0294 a0001c0001t0004g0296 a0001c0001t0004g0297 a0001c0001t0004g0298 a0001c0001t0004g0301 a0001c0001t0004g0302 a0001c0001t0004g0304 a0001c0001t0004g0308 a0001c0001t0004g0311 a0001c0001t0004g0312 a0001c0001t0004g0313 a0001c0001t0004g0326 a0001c0001t0005g0021 a0001c0001t0005g0255 a0001c0001t0005g0295 a0001c0001t0005g0303 a0001c0001t0005g0305 a0001c0001t0005g0306 a0001c0001t0005g0309 a0001c0001t0005g0310 a0001c0001t0005g0314 a0001c0001t0005g0315 a0001c0001t0006g0267 a0001c0001t0006g0299 a0001c0001t0006g0300 a0001c0001t0006g0307	37	368	0.1005	-25	c.154 others(42): Show c.154-3549_154-3525delCTTTTTTTTTTTTTTTTTTTTTTTT	SCGN	ENSG00000079689.15	transcript	ENST00000377961.3	protein_coding	2/10			chr6	TogoVar
SCGN_chr6_25647215_25706783	25658003	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02970.hp2 HG01358.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0228 a0001c0001t0003g0227 a0001c0001t0002g0228 a0001c0001t0003g0227	2	368	0.0054	-25	c.154 others(42): Show c.154-3519_154-3495delTTTTTTTTTTTTTTTTTTTTTTTTT	SCGN	ENSG00000079689.15	transcript	ENST00000377961.3	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCIN_chr7_12565720_12665182	12632083	CATTTTAT others(18): Show CATTTTATTTTATTTTATTTTATTTT	C C	intron_variant intron_variant	MODIFIER	HG02602.hp2 NA19057.hp1 NA20752.hp2 HG02602.hp2 NA19057.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0025 a0001c0001t0102 a0002c0002t0142 a0001c0001t0025 a0001c0001t0102 a0002c0002t0142	a0001c0001t0025g0022 a0001c0001t0102g0105 a0002c0002t0142g0057 a0001c0001t0025g0022 a0001c0001t0102g0105 a0002c0002t0142g0057	3	372	0.0081	-25	c.131 others(44): Show c.1319+2903_1319+2927delTTTTATTTTATTTTATTTTATTTTA	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
SCMH1_chr1_41022202_41247306	41219019	GCTGGGGC others(18): Show GCTGGGGCTTTGAACCAGCCCAACCT	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02572.hp2 HG02622.hp2 others(2): Show HG02258.hp2 HG02572.hp2 HG02622.hp2 HG03453.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0300 a0001c0001t0006g0301 a0001c0001t0006g0302 others(2): Show a0001c0001t0006g0300 a0001c0001t0006g0301 a0001c0001t0006g0302 a0001c0001t0006g0303 a0001c0001t0006g0304	5	304	0.0165	-25	c.-11 others(46): Show c.-118+23015_-118+23039delAGGTTGGGCTGGTTCAAAGCCCCA G	SCMH1	ENSG00000010803.17	transcript	ENST00000695335.1	protein_coding	1/15			chr1	TogoVar
SCN10A_chr3_38691807_38821217	38719367	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp2 HG00735.hp1 others(40): Show HG00323.hp2 HG00639.hp2 HG00735.hp1 HG00741.hp2 HG01169.hp1 HG01928.hp1 HG02055.hp2 HG02135.hp2 HG02148.hp1 HG02257.hp1 HG02258.hp2 HG02486.hp2 HG02559.hp1 HG02622.hp2 HG02717.hp1 HG02717.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp2 HG02965.hp2 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp2 HG03225.hp2 HG03486.hp1 HG03579.hp2 HG03834.hp2 NA18906.hp1 NA18940.hp1 NA18970.hp1 NA18987.hp2 NA18989.hp2 NA19002.hp2 NA19010.hp1 NA19011.hp2 NA19030.hp1 NA19064.hp2 NA19070.hp1 NA19090.hp2 NA19240.hp1 NA21309.hp1	a0001 a0005 a0017 others(2): Show a0001 a0005 a0017 a0025 a0033	a0001c0003 a0001c0004 a0001c0007 others(5): Show a0001c0003 a0001c0004 a0001c0007 a0005c0009 a0005c0011 a0017c0052 a0025c0041 a0033c0035	a0001c0003t0001 a0001c0004t0001 a0001c0007t0001 others(7): Show a0001c0003t0001 a0001c0004t0001 a0001c0007t0001 a0005c0009t0001 a0005c0009t0002 a0005c0009t0003 a0005c0011t0001 a0017c0052t0001 a0025c0041t0001 a0033c0035t0001	a0001c0003t0001g0014 a0001c0003t0001g0015 a0001c0003t0001g0016 others(40): Show a0001c0003t0001g0014 a0001c0003t0001g0015 a0001c0003t0001g0016 a0001c0003t0001g0023 a0001c0003t0001g0025 a0001c0003t0001g0026 a0001c0003t0001g0033 a0001c0003t0001g0039 a0001c0003t0001g0040 a0001c0003t0001g0042 a0001c0003t0001g0075 a0001c0003t0001g0077 a0001c0003t0001g0078 a0001c0003t0001g0088 a0001c0003t0001g0089 a0001c0003t0001g0122 a0001c0003t0001g0130 a0001c0003t0001g0177 a0001c0003t0001g0240 a0001c0003t0001g0299 a0001c0003t0001g0300 a0001c0004t0001g0017 a0001c0004t0001g0082 a0001c0004t0001g0101 a0001c0004t0001g0105 a0001c0004t0001g0110 a0001c0004t0001g0111 a0001c0007t0001g0049 a0005c0009t0001g0055 a0005c0009t0002g0044 a0005c0009t0002g0104 a0005c0009t0002g0149 a0005c0009t0002g0150 a0005c0009t0002g0152 a0005c0009t0002g0153 a0005c0009t0003g0003 a0005c0011t0001g0087 a0005c0011t0001g0141 a0005c0011t0001g0142 a0005c0011t0001g0145 a0017c0052t0001g0298 a0025c0041t0001g0147 a0033c0035t0001g0284	43	372	0.1156	-25	c.350 others(42): Show c.3508-566_3508-542delAAAAAAAAAAAAAAAAAAAAAAAAA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	20/27			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38889802	AAAAATAA others(18): Show AAAAATAAAATAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp2 others(67): Show HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG01074.hp2 HG01192.hp2 HG01257.hp2 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG02040.hp2 HG02056.hp2 HG02257.hp2 HG02486.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02630.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02976.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03654.hp1 HG03834.hp1 HG04115.hp2 HG06807.hp1 HG06807.hp2 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18947.hp2 NA18949.hp2 NA18957.hp1 NA18959.hp2 NA18964.hp2 NA18965.hp2 NA18968.hp2 NA18975.hp2 NA18978.hp2 NA18989.hp1 NA18993.hp2 NA19005.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19066.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19086.hp2 NA19088.hp1 NA19090.hp2 NA19240.hp2 NA20805.hp2 NA21309.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0001c0016 a0003c0010 a0007c0021	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0016 a0001c0006t0003 a0001c0007t0005 a0001c0007t0010 a0001c0016t0001 a0003c0010t0003 a0007c0021t0003	a0001c0001t0001g0215 a0001c0001t0003g0266 a0001c0001t0003g0274 others(67): Show a0001c0001t0001g0215 a0001c0001t0003g0266 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0282 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0289 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0194 a0001c0002t0001g0196 a0001c0002t0016g0184 a0001c0006t0003g0291 a0001c0006t0003g0292 a0001c0006t0003g0298 a0001c0006t0003g0308 a0001c0006t0003g0309 a0001c0006t0003g0310 a0001c0007t0005g0300 a0001c0007t0005g0301 a0001c0007t0005g0302 a0001c0007t0010g0247 a0001c0007t0010g0314 a0001c0016t0001g0263 a0003c0010t0003g0268 a0007c0021t0003g0267	70	314	0.2229	-25	c.283 others(44): Show c.2836-3589_2836-3565delATTTTATTTTATTTTATTTTATTTT	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	19/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38963368	TATATATA others(18): Show TATATATATATATATATATGATGGAG	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02896.hp1 HG02895.hp1 HG02896.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0260 a0001c0012t0001g0261 a0001c0012t0001g0260 a0001c0012t0001g0261	2	314	0.0064	-25	c.-27 others(44): Show c.-279-2970_-279-2946delCTCCATCATATATATATATATATAT	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38963399	TATATATA others(18): Show TATATATATATATATATATGATGGAG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02818.hp1 HG03834.hp1 HG00408.hp1 HG02818.hp1 HG03834.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0010 a0001c0001 a0002c0003 a0003c0010	a0001c0001t0001 a0002c0003t0001 a0003c0010t0003 a0001c0001t0001 a0002c0003t0001 a0003c0010t0003	a0001c0001t0001g0215 a0002c0003t0001g0015 a0003c0010t0003g0268 a0001c0001t0001g0215 a0002c0003t0001g0015 a0003c0010t0003g0268	3	314	0.0096	-25	c.-27 others(44): Show c.-279-3001_-279-2977delCTCCATCATATATATATATATATAT	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38963426	TATATATA others(18): Show TATATATATATATATATATGATGGAG	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01978.hp1 HG02071.hp1 others(33): Show HG01891.hp2 HG01978.hp1 HG02071.hp1 HG02083.hp1 HG02145.hp2 HG02258.hp2 HG02300.hp2 HG02451.hp1 HG02523.hp2 HG02647.hp1 HG02683.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp2 HG03195.hp1 HG03471.hp2 NA18940.hp2 NA18950.hp1 NA18959.hp1 NA18963.hp2 NA18964.hp1 NA18968.hp1 NA18980.hp2 NA18993.hp1 NA18995.hp2 NA18998.hp1 NA19003.hp1 NA19054.hp2 NA19062.hp2 NA19068.hp1 NA19070.hp1 NA19080.hp1 NA19083.hp1 NA19088.hp2 NA19240.hp1 NA20129.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0003 a0009c0018 a0001c0001 a0002c0003 a0009c0018	a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 a0002c0003t0003 a0002c0003t0008 a0009c0018t0002	a0001c0001t0001g0207 a0001c0001t0002g0004 a0001c0001t0002g0017 others(33): Show a0001c0001t0001g0207 a0001c0001t0002g0004 a0001c0001t0002g0017 a0002c0003t0001g0007 a0002c0003t0001g0008 a0002c0003t0001g0009 a0002c0003t0001g0010 a0002c0003t0001g0011 a0002c0003t0001g0012 a0002c0003t0001g0013 a0002c0003t0001g0014 a0002c0003t0001g0016 a0002c0003t0001g0018 a0002c0003t0001g0019 a0002c0003t0001g0020 a0002c0003t0001g0021 a0002c0003t0001g0022 a0002c0003t0001g0023 a0002c0003t0001g0026 a0002c0003t0001g0027 a0002c0003t0001g0028 a0002c0003t0001g0029 a0002c0003t0001g0030 a0002c0003t0001g0031 a0002c0003t0001g0032 a0002c0003t0001g0033 a0002c0003t0001g0034 a0002c0003t0001g0035 a0002c0003t0001g0036 a0002c0003t0001g0037 a0002c0003t0001g0091 a0002c0003t0001g0125 a0002c0003t0003g0305 a0002c0003t0008g0005 a0002c0003t0008g0006 a0009c0018t0002g0025	36	314	0.1147	-25	c.-27 others(44): Show c.-279-3028_-279-3004delCTCCATCATATATATATATATATAT	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29			chr3	TogoVar
SCN5A_chr3_38543062_38654687	38555081	ATATATAT others(18): Show ATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0037 a0002c0005t0001g0037	1	340	0.0029	-25	c.454 others(42): Show c.4542+550_4543-533delATATATATATATATATATATATATA	SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	26/27			chr3	TogoVar

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