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
SAPCD2_chr9_137057127_137075557	137070668	A A	ATTTTTTT others(28): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0128 a0001c0001t0037g0128	1	414	0.0024	35	c.-20 others(44): Show c.-209_-208insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SAPCD2	ENSG00000186193.9	transcript	ENST00000409687.5	protein_coding		112		chr9	TogoVar
SARDH_chr9_133658560_133743352	133668496	C C	CTCACCCT others(28): Show CTCACCCTCCCTCCCTCACCCTCCTCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0002 a0003c0009t0002	a0003c0009t0002g0252 a0003c0009t0002g0252	1	262	0.0038	35	c.249 others(54): Show c.2496-1627_2496-1626insAGGAGGAGGAGAGGAGGGTGAGGGAG GGAGGGTGA	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARNP_chr12_55752270_55822724	55774558	T T	TAAAAAAA others(28): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	276	0.0036	35	c.502 others(54): Show c.502-13919_502-13918insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	SARNP	ENSG00000205323.9	transcript	ENST00000336133.8	protein_coding	9/10			chr12	TogoVar
SART1_chr11_65956734_65985137	65971088	A A	AGCTGCTG others(28): Show AGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0160 a0001c0005t0001g0160	1	384	0.0026	35	c.157 others(54): Show c.1572+3271_1572+3272insCTGAGGAGGGGGATGGTGGGATTCAT GAGCTGCTG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SART3_chr12_108517214_108566173	108564523	G G	GAGATGGG others(28): Show GAGATGGGATGAGTCCATGTTAGATATGACTGGAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	394	0.0025	35	c.-34 others(46): Show c.-3404_-3370dupGCTCCAGTCATATCTAACATGGACTCATCCCATC T	SART3	ENSG00000075856.12	transcript	ENST00000546815.6	protein_coding		3351		chr12	TogoVar
SBF2_chr11_9773668_10299219	9835631	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0174 a0001c0001t0003g0174	1	224	0.0045	35	c.345 others(54): Show c.3456-3212_3456-3211insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	26/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10196866	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0221 a0001c0001t0002g0221	1	224	0.0045	35	c.56- others(50): Show c.56-2880_56-2879insAAAAAAAAAAATATATATATATATATATAT ATATA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SCAMP1_chr5_78355617_78485739	78460800	C C	CTTTCTTT others(28): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0311 a0001c0001t0003g0311	1	332	0.0030	35	c.852 others(52): Show c.852+1438_852+1439insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8			chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460812	C C	CTTTCTTT others(28): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0295 a0001c0001t0003g0295	1	332	0.0030	35	c.852 others(52): Show c.852+1450_852+1451insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8			chr5	TogoVar
SCAPER_chr15_76342904_76910340	76428894	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0307 a0002c0002t0002g0307	1	312	0.0032	35	c.331 others(54): Show c.3311+5183_3311+5184insATATATATATATATATATATATATAT ATATATATA	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	26/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76488714	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0194 a0002c0002t0002g0194	1	312	0.0032	35	c.295 others(56): Show c.2954+16144_2954+16145insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	24/31			chr15	TogoVar
SCART1_chr10_133448945_133474760	133460496	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0003 a0003c0007t0003	a0003c0007t0003g0109 a0003c0007t0003g0109	1	434	0.0023	35	c.196 others(52): Show c.1969+327_1969+328insATATATATATATATATATATATATTTTT TTTTTTT	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
SCART1_chr10_133448945_133474760	133470431	T T	TTTAGGTT others(28): Show TTTAGGTTATAACTTTCCCTTTTAGCATGGCTTTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0020 a0020	a0020c0055 a0020c0055	a0020c0055t0004 a0020c0055t0004	a0020c0055t0004g0047 a0020c0055t0004g0047	1	434	0.0023	35	c.24 others(46): Show c.2463_*2464insTTAGGTTATAACTTTCCCTTTTAGCATGGCTTTG G	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding		672		chr10	TogoVar
SCART1_chr10_133448945_133474760	133472640	A A	ATCTGGTC others(28): Show ATCTGGTCAGTTGAGTGTGGCGTCTCCCTCCTGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG02451.hp2 HG02895.hp2 others(1): Show HG00735.hp2 HG02451.hp2 HG02895.hp2 HG02897.hp1	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0004 a0002c0018t0006 a0002c0018t0004 a0002c0018t0006	a0002c0018t0004g0057 a0002c0018t0004g0059 a0002c0018t0006g0045 a0002c0018t0004g0057 a0002c0018t0004g0059 a0002c0018t0006g0045	4	434	0.0092	35	c.46 others(46): Show c.4672_*4673insTCTGGTCAGTTGAGTGTGGCGTCTCCCTCCTGAG G	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding		2881		chr10	TogoVar
SCART1_chr10_133448945_133474760	133473039	T T	TGTTGAGT others(28): Show TGTTGAGTGTGGCGTCTCCGTCCTGAGATGTGTTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	434	0.0023	35	c.50 others(46): Show c.5071_*5072insGTTGAGTGTGGCGTCTCCGTCCTGAGATGTGTTC A	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding		3280		chr10	TogoVar
SCEL_chr13_77530706_77650263	77633442	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0272 a0003c0005t0002g0272	1	356	0.0028	35	c.169 others(52): Show c.1692-913_1692-912insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	SCEL	ENSG00000136155.17	transcript	ENST00000349847.4	protein_coding	28/32		INFO_REALIGN_3_PRIME	chr13	TogoVar
SCFD2_chr4_52867982_53371061	53110041	G G	GGAACAGA others(28): Show GGAACAGAACAGAACAGAACAGAACAGAACAGAACA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01106.hp1 HG01169.hp1 others(5): Show HG00735.hp1 HG01106.hp1 HG01169.hp1 HG02129.hp1 NA18941.hp2 NA18963.hp1 NA19007.hp2 NA19060.hp1	a0001 a0004 a0001 a0004	a0001c0005 a0001c0007 a0004c0011 others(1): Show a0001c0005 a0001c0007 a0004c0011 a0004c0012	a0001c0005t0001 a0001c0005t0003 a0001c0007t0001 others(3): Show a0001c0005t0001 a0001c0005t0003 a0001c0007t0001 a0001c0007t0003 a0004c0011t0003 a0004c0012t0001	a0001c0005t0001g0024 a0001c0005t0001g0037 a0001c0005t0003g0046 others(5): Show a0001c0005t0001g0024 a0001c0005t0001g0037 a0001c0005t0003g0046 a0001c0007t0001g0035 a0001c0007t0001g0036 a0001c0007t0003g0028 a0004c0011t0003g0003 a0004c0012t0001g0004	8	162	0.0494	35	c.156 others(56): Show c.1561+35291_1561+35292insTGTTCTGTTCTGTTCTGTTCTGTT CTGTTCTGTTC	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	5/8			chr4	TogoVar
SCGB1C2_chr17_132569_144067	141059	T T	TGGTGAGG others(28): Show TGGTGAGGCATGGGGGGGGACCTTGGTGAGGGGACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0002 a0006c0007t0001g0002	1	402	0.0025	35	c.21 others(46): Show c.2117_*2118insGGTGAGGCATGGGGGGGGACCTTGGTGAGGGGAC C	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		1993		chr17	TogoVar
SCHIP1_chr3_159268244_159902359	159843001	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	100	0.0100	35	c.760 others(54): Show c.760-23134_760-23133insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCIN_chr7_12565720_12665182	12578909	G G	GTTTTTTT others(28): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02080.hp1 HG02145.hp2 others(7): Show HG01243.hp1 HG02080.hp1 HG02145.hp2 HG02886.hp1 HG03540.hp1 HG03704.hp2 NA18939.hp2 NA18983.hp2 NA18992.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0252 a0002c0002t0007 a0002c0002t0025 others(7): Show a0001c0001t0252 a0002c0002t0007 a0002c0002t0025 a0002c0002t0027 a0002c0002t0031 a0002c0002t0076 a0002c0002t0087 a0002c0002t0118 a0002c0002t0169 a0002c0002t0244	a0001c0001t0252g0030 a0002c0002t0007g0280 a0002c0002t0025g0317 others(7): Show a0001c0001t0252g0030 a0002c0002t0007g0280 a0002c0002t0025g0317 a0002c0002t0027g0286 a0002c0002t0031g0315 a0002c0002t0076g0316 a0002c0002t0087g0312 a0002c0002t0118g0279 a0002c0002t0169g0313 a0002c0002t0244g0314	10	372	0.0269	35	c.354 others(50): Show c.354+706_354+707insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
SCML4_chr6_107697154_107829313	107778222	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0014 a0002c0004t0014	a0002c0004t0014g0019 a0002c0004t0014g0019	1	250	0.0040	35	c.-59 others(52): Show c.-59-5837_-59-5836insATATATATATATATATTTTTTTTTTTTT TTTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCN7A_chr2_166398573_166499249	166414152	T T	TATATATA others(28): Show TATATATAATATATTATATATATGTAAATATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01168.hp1 others(5): Show HG01070.hp1 HG01071.hp2 HG01168.hp1 HG01169.hp1 HG01255.hp2 HG02922.hp2 HG02965.hp2 HG03516.hp1	a0002 a0010 a0016 a0002 a0010 a0016	a0002c0002 a0010c0013 a0016c0019 a0002c0002 a0010c0013 a0016c0019	a0002c0002t0001 a0010c0013t0001 a0010c0013t0003 others(2): Show a0002c0002t0001 a0010c0013t0001 a0010c0013t0003 a0010c0013t0010 a0016c0019t0001	a0002c0002t0001g0172 a0002c0002t0001g0180 a0010c0013t0001g0021 others(5): Show a0002c0002t0001g0172 a0002c0002t0001g0180 a0010c0013t0001g0021 a0010c0013t0003g0017 a0010c0013t0010g0018 a0010c0013t0010g0019 a0016c0019t0001g0151 a0016c0019t0001g0152	8	394	0.0203	35	c.341 others(54): Show c.3415-1066_3415-1032dupTATATATATTTACATATATATAATAT ATTATATAT	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25			chr2	TogoVar
SCN8A_chr12_51586233_51817864	51677056	G G	GTTTTATT others(28): Show GTTTTATTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0006 a0001c0001t0028g0006	1	202	0.0050	35	c.277 others(52): Show c.277-7097_277-7063dupTTTTATTTTATTTTATTTTATTTTATTT TATTTTA	SCN8A	ENSG00000196876.19	transcript	ENST00000354534.11	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
SCNN1A_chr12_6341847_6380563	6343645	C C	CTGGGCTG others(28): Show CTGGGCTGCTAGAAATGCAGGCAGCTAGAAATTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(89): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01256.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01515.hp2 HG01516.hp2 HG01934.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02148.hp1 HG02300.hp1 HG02523.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02717.hp2 HG02735.hp1 HG03041.hp1 HG03239.hp2 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04204.hp1 NA18612.hp1 NA18939.hp2 NA18940.hp1 NA18943.hp2 NA18944.hp1 NA18948.hp1 NA18951.hp1 NA18954.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18971.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18982.hp2 NA18989.hp1 NA18990.hp1 NA18993.hp2 NA18998.hp2 NA19000.hp2 NA19007.hp1 NA19011.hp1 NA19060.hp2 NA19074.hp2 NA19077.hp1 NA19081.hp2 NA19083.hp1 NA19087.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0008 others(2): Show a0001 a0003 a0008 a0011 a0017	a0001c0001 a0001c0006 a0003c0003 others(4): Show a0001c0001 a0001c0006 a0003c0003 a0003c0010 a0008c0015 a0011c0021 a0017c0027	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0003c0003t0001 a0003c0010t0001 a0008c0015t0001 a0008c0015t0017 a0011c0021t0001 a0017c0027t0001	a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0129 others(83): Show a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0129 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0157 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0216 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0001g0263 a0001c0001t0001g0270 a0001c0001t0001g0282 a0001c0001t0001g0292 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0318 a0001c0001t0001g0322 a0001c0001t0001g0325 a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0355 a0001c0001t0001g0365 a0001c0001t0001g0375 a0001c0001t0001g0376 a0001c0001t0001g0381 a0001c0001t0001g0382 a0001c0001t0001g0385 a0001c0001t0001g0391 a0001c0001t0001g0409 a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0027 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0067 a0001c0001t0002g0070 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0080 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0094 a0001c0006t0001g0109 a0001c0006t0001g0118 a0003c0003t0001g0283 a0003c0003t0001g0299 a0003c0003t0001g0301 a0003c0003t0001g0373 a0003c0003t0001g0393 a0003c0003t0001g0402 a0003c0010t0001g0116 a0008c0015t0001g0390 a0008c0015t0017g0374 a0011c0021t0001g0189 a0017c0027t0001g0107	92	454	0.2026	35	c.42 others(46): Show c.4227_*4228insAGAAATTTCTAGCTGCCTGCATTTCTAGCAGCCC A	SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding		3201		chr12	TogoVar
SCNN1B_chr16_23297302_23386294	23343486	G G	GGAAGGAA others(28): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02965.hp1 HG02976.hp2 others(2): Show HG02723.hp1 HG02965.hp1 HG02976.hp2 HG03516.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0297 others(2): Show a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0297 a0001c0003t0001g0288 a0001c0003t0001g0289	5	306	0.0163	35	c.-8- others(50): Show c.-8-5083_-8-5082insGGAAGGAAGGAAGAAGGAAGGAAGGAAGGA AGGAA	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1B_chr16_23297302_23386294	23365620	A A	AGAAAGAA others(28): Show AGAAAGAAAGAGAGAGAGAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0252 a0001c0002t0001g0252	1	306	0.0033	35	c.777 others(52): Show c.777-2236_777-2235insGAAAGAAAGAGAGAGAGAGAAAGAAAGA AAGAAAG	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	4/12			chr16	TogoVar
SCNN1B_chr16_23297302_23386294	23365620	A A	AGAAAGAG others(28): Show AGAAAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0255 a0001c0002t0001g0255	1	306	0.0033	35	c.777 others(52): Show c.777-2236_777-2235insGAAAGAGAGAGAGAGAGAGAAAGAAAGA AAGAAAG	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	4/12			chr16	TogoVar
SCO2_chr22_50518568_50530598	50524455	A A	AAGGGAAG others(28): Show AAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0028 a0002c0002t0002g0028	1	410	0.0024	35	c.-13 others(48): Show c.-13-66_-13-32dupCAGGGGCAGCCCAGGCACTGTCCTGGGCCTTC CCT	SCO2	ENSG00000284194.3	transcript	ENST00000395693.8	protein_coding	1/1			chr22	TogoVar
SCUBE2_chr11_9014476_9096599	9054725	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0011 a0011	a0011c0017 a0011c0017	a0011c0017t0004 a0011c0017t0004	a0011c0017t0004g0245 a0011c0017t0004g0245	1	358	0.0028	35	c.120 others(52): Show c.1208-967_1208-966insAAAAATATATATATATATATATATATAT ATATATA	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22			chr11	TogoVar
SCX_chr8_144261453_144273481	144262774	A A	ACCCCCAC others(28): Show ACCCCCACCCCTCACCTGCAGGGTACACCGCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	440	0.0023	35	c.-38 others(46): Show c.-3840_-3839insCCCCCACCCCTCACCTGCAGGGTACACCGCCCCC C	SCX	ENSG00000260428.3	transcript	ENST00000567180.3	protein_coding		3678		chr8	TogoVar
SCX_chr8_144261453_144273481	144262803	G G	GCCCCCCC others(28): Show GCCCCCCCCCACCCCTCACCTGCAGGGTACACCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG01256.hp1 HG00609.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	440	0.0046	35	c.-38 others(46): Show c.-3811_-3810insCCCCCCCCCACCCCTCACCTGCAGGGTACACCGC C	SCX	ENSG00000260428.3	transcript	ENST00000567180.3	protein_coding		3649		chr8	TogoVar
SCX_chr8_144261453_144273481	144262803	G G	GCCCCCCC others(28): Show GCCCCCCCCCCACCCCTCACCTGCAGGGTACACCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00597.hp2 others(17): Show HG00140.hp2 HG00408.hp2 HG00597.hp2 HG00642.hp1 HG00741.hp2 HG01081.hp2 HG01261.hp1 HG01433.hp1 HG01928.hp1 HG02056.hp1 HG02071.hp1 HG02523.hp2 HG02698.hp2 HG02738.hp1 HG03831.hp1 HG04204.hp1 NA18966.hp2 NA18985.hp1 NA19003.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0003g0002 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0003g0002	20	440	0.0455	35	c.-38 others(46): Show c.-3811_-3810insCCCCCCCCCCACCCCTCACCTGCAGGGTACACCG C	SCX	ENSG00000260428.3	transcript	ENST00000567180.3	protein_coding		3649		chr8	TogoVar
SCYGR1_chr2_227382683_227392949	227389878	T T	TTTTTCTT others(28): Show TTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02647.hp2 HG02809.hp1 HG02109.hp1 HG02647.hp2 HG02809.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0000 a0005c0006t0000	a0005c0006t0000g0000 a0005c0006t0000g0000	3	454	0.0066	35	c.-19 others(46): Show c.-1930_-1929insGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA A	SCYGR1	ENSG00000284629.1	transcript	ENST00000641359.1	protein_coding		1930		chr2	TogoVar
SDC2_chr8_96488813_96616790	96565084	A A	ATTTTTTT others(28): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG03927.hp1 NA18977.hp2 others(2): Show HG01358.hp1 HG03927.hp1 NA18977.hp2 NA19081.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0028 a0001c0001t0001g0070 a0001c0001t0001g0292 others(2): Show a0001c0001t0001g0028 a0001c0001t0001g0070 a0001c0001t0001g0292 a0001c0001t0001g0295 a0002c0002t0001g0252	5	334	0.0150	35	c.61- others(52): Show c.61-28381_61-28380insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
SDCCAG8_chr1_243251041_243505091	243484587	T T	TCATCTGC others(28): Show TCATCTGCAATATTGGCCATTTCTCTTCATGCTTCA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	189	0.0053	35	c.198 others(54): Show c.1986-4396_1986-4395insTTCACATCTGCAATATTGGCCATTTC TCTTCATGC	SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDF2_chr17_28643346_28666906	28662302	T T	TGGGGGGG others(28): Show TGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0186 a0003c0005t0004g0186	1	398	0.0025	35	c.-42 others(44): Show c.-427_-426insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	SDF2	ENSG00000132581.10	transcript	ENST00000247020.9	protein_coding		397		chr17	TogoVar
SDF2_chr17_28643346_28666906	28663828	A A	ATTTTTTT others(28): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00597.hp2 HG01099.hp2 others(8): Show HG00438.hp2 HG00597.hp2 HG01099.hp2 HG02602.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp2 NA18984.hp1 NA19060.hp1 NA19082.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0018 a0001c0001t0001g0027 a0001c0001t0001g0032 others(8): Show a0001c0001t0001g0018 a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0147 a0001c0001t0002g0008 a0001c0001t0002g0012 a0001c0001t0002g0078 a0001c0001t0002g0118 a0001c0001t0002g0121 a0001c0001t0002g0136 a0001c0001t0002g0175	11	398	0.0276	35	c.-19 others(46): Show c.-1953_-1952insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	SDF2	ENSG00000132581.10	transcript	ENST00000247020.9	protein_coding		1923		chr17	TogoVar
SDF4_chr1_1211931_1237001	1212605	C C	CAGCCCCT others(28): Show CAGCCCCTCCCAGCCCCTGGCCCCTCTGCCCCCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02109.hp1 HG02280.hp2 others(5): Show HG01243.hp2 HG02109.hp1 HG02280.hp2 HG02970.hp2 HG03139.hp1 HG03195.hp2 HG03831.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0002c0005 a0001c0001 a0002c0004 a0002c0005	a0001c0001t0002 a0001c0001t0007 a0001c0001t0018 others(2): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0018 a0002c0004t0005 a0002c0005t0005	a0001c0001t0002g0017 a0001c0001t0002g0032 a0001c0001t0007g0100 others(4): Show a0001c0001t0002g0017 a0001c0001t0002g0032 a0001c0001t0007g0100 a0001c0001t0018g0116 a0002c0004t0005g0028 a0002c0004t0005g0064 a0002c0005t0005g0090	8	400	0.0200	35	c.49 others(46): Show c.4906_*4907insTGAGGGGGCAGAGGGGCCAGGGGCTGGGAGGGGC T	SDF4	ENSG00000078808.20	transcript	ENST00000360001.12	protein_coding		4325		chr1	TogoVar
SDHAF3_chr7_97112698_97186763	97183901	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG02055.hp1 HG01433.hp2 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0027 a0001c0001t0002g0115 a0001c0001t0001g0027 a0001c0001t0002g0115	2	402	0.0050	35	c.26 others(46): Show c.2686_*2687insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	SDHAF3	ENSG00000196636.8	transcript	ENST00000432641.3	protein_coding		2139		chr7	TogoVar
SDHC_chr1_161309381_161368206	161309552	A A	ATATATAT others(28): Show ATATATATATATATATATATATATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	330	0.0030	35	c.-48 others(46): Show c.-4854_-4853insTATATATATATATATATATATATTTTTTTTTTTT T	SDHC	ENSG00000143252.16	transcript	ENST00000367975.7	protein_coding		4828		chr1	TogoVar
SDHC_chr1_161309381_161368206	161309552	A A	ATATATAT others(28): Show ATATATATATATATATATTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	330	0.0030	35	c.-48 others(46): Show c.-4854_-4853insTATATATATATATATATTTTTTTTTTTTTTTTTT T	SDHC	ENSG00000143252.16	transcript	ENST00000367975.7	protein_coding		4828		chr1	TogoVar
SDHC_chr1_161309381_161368206	161309552	A A	ATATATAT others(28): Show ATATATATATATATATTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0001 a0001c0001t0005g0001	1	330	0.0030	35	c.-48 others(46): Show c.-4854_-4853insTATATATATATATATTTTTTTTTTTTTTTTTTTT T	SDHC	ENSG00000143252.16	transcript	ENST00000367975.7	protein_coding		4828		chr1	TogoVar
SDHC_chr1_161309381_161368206	161309552	A A	ATATATAT others(28): Show ATATATATATATATTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02717.hp2 HG03098.hp1 others(2): Show HG02630.hp1 HG02717.hp2 HG03098.hp1 NA18522.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0001 a0001c0001t0005g0007 a0001c0001t0005g0041 others(1): Show a0001c0001t0005g0001 a0001c0001t0005g0007 a0001c0001t0005g0041 a0001c0001t0005g0042	5	330	0.0152	35	c.-48 others(46): Show c.-4854_-4853insTATATATATATATTTTTTTTTTTTTTTTTTTTTT T	SDHC	ENSG00000143252.16	transcript	ENST00000367975.7	protein_coding		4828		chr1	TogoVar
SDHC_chr1_161309381_161368206	161339662	G G	GTTTTTTT others(28): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01496.hp2 HG03453.hp1 others(2): Show HG01070.hp2 HG01496.hp2 HG03453.hp1 NA19002.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0108 a0001c0001t0001g0133 others(2): Show a0001c0001t0001g0015 a0001c0001t0001g0108 a0001c0001t0001g0133 a0001c0001t0001g0156 a0001c0001t0001g0169	5	330	0.0152	35	c.180 others(50): Show c.180-904_180-903insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	SDHC	ENSG00000143252.16	transcript	ENST00000367975.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK2_chr17_73329384_73649445	73355174	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0020 a0001c0003t0020	a0001c0003t0020g0155 a0001c0003t0020g0155	1	204	0.0049	35	c.559 others(54): Show c.5594-2538_5594-2537insAAAAAAAAAAATATATATATATATAT ATATATATA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar
SEC22B_chr1_120145898_120181520	120177146	G G	GAACGACC others(28): Show GAACGACCTAGCAGGACATGATTGTACAAAGCACTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0053 a0001c0002t0025g0053	1	380	0.0026	35	c.-76 others(44): Show c.-766_-765insTAGTGCTTTGTACAATCATGTCCTGCTAGGTCGTT	SEC22B	ENSG00000265808.4	transcript	ENST00000578049.4	protein_coding		627		chr1	TogoVar
SEC63_chr6_107862756_107963208	107863571	C C	CGCTGCGC others(28): Show CGCTGCGCGCGCGCGCGCGCGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	332	0.0030	35	c.81 others(46): Show c.8132_*8133insACACACACACACACACGCGCGCGCGCGCGCGCAG C	SEC63	ENSG00000025796.14	transcript	ENST00000369002.9	protein_coding		4184		chr6	TogoVar
SEL1L2_chr20_13844247_13995614	13939040	G G	GGTTTTTT others(28): Show GGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG03491.hp1 HG01993.hp2 HG03491.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0005 a0002c0002 a0003c0005	a0002c0002t0004 a0003c0005t0002 a0002c0002t0004 a0003c0005t0002	a0002c0002t0004g0015 a0003c0005t0002g0036 a0002c0002t0004g0015 a0003c0005t0002g0036	2	324	0.0062	35	c.115 others(52): Show c.115-7270_115-7269insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAC	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SELENBP1_chr1_151359304_151377705	151362092	A A	AGAGGAAG others(28): Show AGAGGAAGAGGAGGAAGAGGCAGAAAAGAAAGAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	438	0.0023	35	c.24 others(46): Show c.2450_*2451insATTTCTTTCTTTTCTGCCTCTTCCTCCTCTTCCT C	SELENBP1	ENSG00000143416.21	transcript	ENST00000368868.10	protein_coding		2211		chr1	TogoVar
SEMA3E_chr7_83358238_83654139	83383210	T T	TAGATTTG others(28): Show TAGATTTGATAAGAAAATGATTTCTTATCAAAATAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp1 HG03225.hp1 HG01884.hp1 HG02055.hp1 HG03225.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0001c0001 a0003c0009	a0001c0001t0037 a0003c0009t0061 a0003c0009t0066 a0001c0001t0037 a0003c0009t0061 a0003c0009t0066	a0001c0001t0037g0003 a0003c0009t0061g0062 a0003c0009t0066g0067 a0001c0001t0037g0003 a0003c0009t0061g0062 a0003c0009t0066g0067	3	226	0.0133	35	c.187 others(54): Show c.1875+2083_1875+2084insTTATTTTGATAAGAAATCATTTTCTT ATCAAATCT	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	16/16			chr7	TogoVar

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