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
RYR1_chr19_38428691_38592564	38551025	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0021 a0001c0011t0001g0021	1	218	0.0046	-21	c.122 others(42): Show c.12282+2624_12282+2644delTTTTTTTTTTTTTTTTTTTTT	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	89/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR2_chr1_237037184_237838988	237350599	AAAAATAT others(14): Show AAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0010 a0001c0037t0010	a0001c0037t0010g0037 a0001c0037t0010g0037	1	100	0.0100	-21	c.274 others(38): Show c.274-5364_274-5344delAAATATATATATATATATATA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	3/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237594885	GGTTTTTT others(14): Show GGTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0063 a0001c0003t0001g0063	1	100	0.0100	-21	c.443 others(38): Show c.4437-612_4437-592delGTTTTTTTTTTTTTTTTTTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	33/104			chr1	TogoVar
RYR2_chr1_237037184_237838988	237594886	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00738.hp1 others(15): Show HG00280.hp1 HG00408.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01074.hp1 HG01168.hp2 HG01256.hp2 HG01261.hp1 HG01361.hp2 HG02293.hp2 HG03486.hp2 HG03704.hp1 HG04228.hp2 NA18946.hp1 NA18946.hp2 NA18962.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0036 a0001c0041 a0002c0039 a0003c0006 a0003c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(15): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0002t0001 a0001c0002t0009 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0004t0002 a0001c0004t0004 a0001c0004t0020 a0001c0008t0028 a0001c0036t0003 a0001c0041t0006 a0002c0039t0036 a0003c0006t0004 a0003c0013t0001 a0003c0013t0003	a0001c0001t0001g0012 a0001c0001t0003g0089 a0001c0001t0006g0025 others(15): Show a0001c0001t0001g0012 a0001c0001t0003g0089 a0001c0001t0006g0025 a0001c0002t0001g0075 a0001c0002t0009g0021 a0001c0003t0002g0065 a0001c0003t0003g0046 a0001c0003t0004g0060 a0001c0004t0002g0092 a0001c0004t0004g0009 a0001c0004t0020g0093 a0001c0008t0028g0039 a0001c0036t0003g0038 a0001c0041t0006g0027 a0002c0039t0036g0030 a0003c0006t0004g0088 a0003c0013t0001g0091 a0003c0013t0003g0086	18	100	0.1800	-21	c.443 others(38): Show c.4437-587_4437-567delTTTTTTTTTTTTTTTTTTTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	33/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
S100A9_chr1_153352854_153366023	153360868	CGGCCACG others(14): Show CGGCCACGGCCACAGTCATGGT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02145.hp2 HG03195.hp1 HG02145.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0017 a0001c0001t0005g0017	2	462	0.0043	-21	c.45 others(28): Show c.45_*65delTCATGGTGGCCACGGCCACAG	S100A9	ENSG00000163220.11	transcript	ENST00000368738.4	protein_coding	3/3	45	INFO_REALIGN_3_PRIME	chr1	TogoVar
S100PBP_chr1_32812653_32863875	32813773	CATCACAC others(14): Show CATCACACATAATCTTGCTAAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp2 HG03491.hp1 HG03017.hp2 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0078 a0001c0001t0001g0079	2	340	0.0059	-21	c.-40 others(32): Show c.-4035_-4015delATCACACATAATCTTGCTAAG	S100PBP	ENSG00000116497.18	transcript	ENST00000373475.10	protein_coding		3879		chr1	TogoVar
SAA1_chr11_18261264_18274967	18267774	TCTTGGAA others(14): Show TCTTGGAAGGTGAGAAAGCTGA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(173): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02040.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp2 NA18942.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18954.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18974.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp2 NA18983.hp1 NA18984.hp2 NA18989.hp2 NA18991.hp1 NA18993.hp1 NA18994.hp1 NA18999.hp1 NA19000.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp2 NA19012.hp2 NA19043.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19059.hp2 NA19062.hp2 NA19063.hp1 NA19066.hp2 NA19068.hp1 NA19072.hp2 NA19075.hp2 NA19085.hp1 NA19086.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20805.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0006 a0008 a0009	a0001c0002 a0001c0004 a0001c0009 others(7): Show a0001c0002 a0001c0004 a0001c0009 a0001c0017 a0002c0001 a0002c0005 a0004c0006 a0006c0008 a0008c0011 a0009c0013	a0001c0002t0001 a0001c0004t0001 a0001c0004t0005 others(8): Show a0001c0002t0001 a0001c0004t0001 a0001c0004t0005 a0001c0009t0001 a0001c0017t0001 a0002c0001t0004 a0002c0005t0001 a0004c0006t0001 a0006c0008t0001 a0008c0011t0001 a0009c0013t0001	a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0011 others(35): Show a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0011 a0001c0002t0001g0025 a0001c0002t0001g0027 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0039 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0059 a0001c0002t0001g0067 a0001c0004t0001g0010 a0001c0004t0001g0026 a0001c0004t0001g0038 a0001c0004t0001g0064 a0001c0004t0001g0066 a0001c0004t0001g0068 a0001c0004t0005g0026 a0001c0009t0001g0004 a0001c0017t0001g0069 a0002c0001t0004g0044 a0002c0005t0001g0014 a0002c0005t0001g0033 a0002c0005t0001g0034 a0002c0005t0001g0063 a0002c0005t0001g0070 a0002c0005t0001g0071 a0002c0005t0001g0072 a0002c0005t0001g0073 a0004c0006t0001g0008 a0004c0006t0001g0035 a0004c0006t0001g0040 a0004c0006t0001g0065 a0006c0008t0001g0004 a0006c0008t0001g0074 a0008c0011t0001g0001 a0009c0013t0001g0001	176	442	0.3982	-21	c.91+ others(34): Show c.91+797_91+817delCTTGGAAGGTGAGAAAGCTGA	SAA1	ENSG00000173432.13	transcript	ENST00000356524.9	protein_coding	2/3			chr11	TogoVar
SAFB2_chr19_5581999_5627776	5603644	AGGTGCCA others(14): Show AGGTGCCACCGTGAACTCACAG	A A	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0220 a0001c0010t0001g0220	1	350	0.0029	-21	c.155 others(38): Show c.1559+918_1559+938delCTGTGAGTTCACGGTGGCACC	SAFB2	ENSG00000130254.12	transcript	ENST00000252542.9	protein_coding	11/20			chr19	TogoVar
SAMD11_chr1_918923_949574	930081	AGCCCCAC others(14): Show AGCCCCACCTTCCTCTCCTCCT	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0028 a0001c0011t0028	a0001c0011t0028g0316 a0001c0011t0028g0316	1	434	0.0023	-21	c.610 others(33): Show c.610-23_610-3delTTCCTCTCCTCCTGCCCCACC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD12_chr8_118372984_118626963	118616345	CAAGCTTC others(14): Show CAAGCTTCAAGGATGAGACATG	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03579.hp2 NA20129.hp2 others(1): Show HG02055.hp1 HG03579.hp2 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0002t0008 a0001c0001t0003 a0001c0002t0001 a0001c0002t0008	a0001c0001t0003g0042 a0001c0001t0003g0051 a0001c0002t0001g0052 others(1): Show a0001c0001t0003g0042 a0001c0001t0003g0051 a0001c0002t0001g0052 a0001c0002t0008g0080	4	188	0.0213	-21	c.13+ others(36): Show c.13+5438_13+5458delCATGTCTCATCCTTGAAGCTT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	1/3			chr8	TogoVar
SAMD15_chr14_77372379_77397163	77372932	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0001 a0011c0013t0001	a0011c0013t0001g0001 a0011c0013t0001g0001	1	314	0.0032	-21	c.-44 others(32): Show c.-4486_-4466delTATATATATATATATATATAT	SAMD15	ENSG00000100583.5	transcript	ENST00000216471.5	protein_coding		4446		chr14	TogoVar
SAMD15_chr14_77372379_77397163	77372934	ATATATAT others(14): Show ATATATATATATATATATATTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG02109.hp1 HG02895.hp2 others(2): Show HG01243.hp2 HG02109.hp1 HG02895.hp2 HG03130.hp1 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0010 a0002c0002t0005g0029 a0002c0002t0005g0086 a0002c0002t0005g0010 a0002c0002t0005g0029 a0002c0002t0005g0086	5	314	0.0159	-21	c.-44 others(32): Show c.-4484_-4464delTATATATATATATATATATTT	SAMD15	ENSG00000100583.5	transcript	ENST00000216471.5	protein_coding		4444		chr14	TogoVar
SAMD15_chr14_77372379_77397163	77372936	ATATATAT others(14): Show ATATATATATATATATATTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG03130.hp2 HG03225.hp1 HG02970.hp1 HG03130.hp2 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0005 a0002c0004t0004 a0002c0002t0005 a0002c0004t0004	a0002c0002t0005g0010 a0002c0002t0005g0088 a0002c0004t0004g0008 a0002c0002t0005g0010 a0002c0002t0005g0088 a0002c0004t0004g0008	3	314	0.0096	-21	c.-44 others(32): Show c.-4482_-4462delTATATATATATATATATTTTT	SAMD15	ENSG00000100583.5	transcript	ENST00000216471.5	protein_coding		4442		chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54653301	ATATTATT others(14): Show ATATTATTATTATTATTATTAT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	262	0.0038	-21	c.197 others(40): Show c.197-48729_197-48709delATTATTATTATTATTATTATT	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54727166	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0150 a0001c0001t0003g0150	1	262	0.0038	-21	c.716 others(38): Show c.716-9837_716-9817delTTTTTTTTTTTTTTTTTTTTT	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMSN1_chr21_14480228_14551315	14487253	TTCAAAGA others(14): Show TTCAAAGAAGGAAAATGTATAA	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0344 a0001c0002t0014g0344	1	408	0.0025	-21	c.920 others(38): Show c.920-1160_920-1140delTTATACATTTTCCTTCTTTGA	SAMSN1	ENSG00000155307.19	transcript	ENST00000400566.6	protein_coding	7/7			chr21	TogoVar
SAP25_chr7_100567228_100578900	100570843	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG03041.hp1 others(4): Show HG02895.hp2 HG02897.hp1 HG03041.hp1 HG03516.hp1 HG03516.hp2 NA18953.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	7	386	0.0181	-21	c.14 others(32): Show c.1423_*1443delTTTTTTTTTTTTTTTTTTTTT	SAP25	ENSG00000205307.12	transcript	ENST00000622764.3	protein_coding		1384		chr7	TogoVar
SARDH_chr9_133658560_133743352	133672017	AACAATAA others(14): Show AACAATAACAGTAAACTCTCTC	A A	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0001 a0002c0025t0001	a0002c0025t0001g0087 a0002c0025t0001g0087	1	262	0.0038	-21	c.216 others(38): Show c.2164-341_2164-321delGAGAGAGTTTACTGTTATTGT	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	17/20			chr9	TogoVar
SARS1_chr1_109208918_109243182	109221998	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00738.hp2 HG01934.hp1 others(2): Show HG00099.hp1 HG00738.hp2 HG01934.hp1 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 others(2): Show a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0363 a0001c0001t0001g0364	5	402	0.0124	-21	c.137 others(38): Show c.137-1978_137-1958delATATATATATATTTTTTTTTT	SARS1	ENSG00000031698.13	transcript	ENST00000234677.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SARS1_chr1_109208918_109243182	109222000	ATATATAT others(14): Show ATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	402	0.0025	-21	c.137 others(38): Show c.137-1976_137-1956delATATATATATTTTTTTTTTTT	SARS1	ENSG00000031698.13	transcript	ENST00000234677.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SASH1_chr6_148337838_148557044	148387583	TCTTTCTT others(14): Show TCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0254 a0002c0002t0001g0254	1	322	0.0031	-21	c.157 others(38): Show c.157-2550_157-2530delCTTTCTTTCTTTCTTTCTTTC	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19			chr6	TogoVar
SASH1_chr6_148337838_148557044	148446088	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00609.hp1 HG00639.hp2 others(19): Show HG00099.hp2 HG00609.hp1 HG00639.hp2 HG01069.hp1 HG01516.hp2 HG01891.hp1 HG02055.hp1 HG02135.hp1 HG02486.hp1 HG02523.hp2 HG02572.hp2 HG02886.hp1 HG03130.hp1 HG03139.hp2 HG03710.hp1 HG03942.hp1 HG04199.hp2 NA18977.hp2 NA18981.hp1 NA18983.hp1 NA18990.hp2 NA19060.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0002c0002 others(6): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0002c0005 a0002c0010 a0002c0033 a0003c0011 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0003t0018 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0004t0004 a0002c0004t0005 a0002c0004t0008 a0002c0004t0011 a0002c0004t0031 a0002c0005t0001 a0002c0010t0003 a0002c0033t0001 a0003c0011t0002 a0004c0008t0003	a0001c0001t0001g0046 a0001c0001t0002g0202 a0001c0003t0001g0044 others(19): Show a0001c0001t0001g0046 a0001c0001t0002g0202 a0001c0003t0001g0044 a0001c0003t0001g0135 a0001c0003t0002g0138 a0001c0003t0005g0122 a0001c0003t0005g0266 a0001c0003t0018g0121 a0002c0002t0001g0027 a0002c0002t0003g0201 a0002c0002t0004g0203 a0002c0004t0004g0126 a0002c0004t0004g0229 a0002c0004t0005g0271 a0002c0004t0008g0093 a0002c0004t0011g0095 a0002c0004t0031g0259 a0002c0005t0001g0028 a0002c0010t0003g0147 a0002c0033t0001g0048 a0003c0011t0002g0081 a0004c0008t0003g0069	22	322	0.0683	-21	c.386 others(38): Show c.386+5699_386+5719delTTTTTTTTTTTTTTTTTTTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SAT2_chr17_7621234_7632821	7627089	GAGACCTC others(14): Show GAGACCTCTGAGGCCGGCTGGA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	432	0.0023	-21	c.202 others(34): Show c.202+33_203-46delTCCAGCCGGCCTCAGAGGTCT	SAT2	ENSG00000141504.12	transcript	ENST00000269298.10	protein_coding	3/5			chr17	TogoVar
SATL1_chrX_85087284_85248779	85220644	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0053 a0004c0004t0002g0053	1	232	0.0043	-21	c.-31 others(40): Show c.-313+3540_-313+3560delTTTTTTTTTTTTTTTTTTTTT	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding	2/7			chrX	TogoVar
SBF2_chr11_9773668_10299219	10254900	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	224	0.0045	-21	c.55+ others(38): Show c.55+39094_55+39114delTTTTTTTTTTTTTTTTTTTTT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBK2_chr19_55523611_55542133	55539879	GCGTGTGC others(14): Show GCGTGTGCATGCGTGTGTGCAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	434	0.0023	-21	c.-28 others(32): Show c.-2849_-2829delGTGCACACACGCATGCACACG	SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding		2747		chr19	TogoVar
SBNO1_chr12_123284109_123369847	123306786	AAATATTA others(14): Show AAATATTACCACTGGGGTAACT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00642.hp2 HG00673.hp1 others(41): Show HG00621.hp1 HG00642.hp2 HG00673.hp1 HG01069.hp1 HG01070.hp2 HG01243.hp2 HG02071.hp2 HG02080.hp1 HG02155.hp2 HG02293.hp2 HG02523.hp2 HG02735.hp2 HG02738.hp2 HG02976.hp1 HG03516.hp1 HG03831.hp1 HG04228.hp2 NA18747.hp2 NA18941.hp1 NA18942.hp1 NA18948.hp2 NA18949.hp2 NA18952.hp2 NA18953.hp1 NA18957.hp1 NA18963.hp1 NA18972.hp2 NA18981.hp2 NA18990.hp2 NA18991.hp2 NA18993.hp1 NA18995.hp2 NA18999.hp2 NA19000.hp1 NA19003.hp2 NA19012.hp2 NA19054.hp1 NA19055.hp2 NA19063.hp2 NA19064.hp1 NA19067.hp2 NA19082.hp1 NA19084.hp1 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0011 a0001c0002 a0001c0011	a0001c0002t0003 a0001c0002t0009 a0001c0002t0021 others(13): Show a0001c0002t0003 a0001c0002t0009 a0001c0002t0021 a0001c0002t0022 a0001c0002t0034 a0001c0002t0085 a0001c0002t0086 a0001c0002t0088 a0001c0002t0089 a0001c0002t0090 a0001c0002t0091 a0001c0002t0092 a0001c0002t0093 a0001c0002t0094 a0001c0002t0095 a0001c0011t0003	a0001c0002t0003g0219 a0001c0002t0003g0224 a0001c0002t0003g0225 others(41): Show a0001c0002t0003g0219 a0001c0002t0003g0224 a0001c0002t0003g0225 a0001c0002t0003g0227 a0001c0002t0003g0228 a0001c0002t0003g0229 a0001c0002t0003g0231 a0001c0002t0003g0232 a0001c0002t0003g0233 a0001c0002t0003g0236 a0001c0002t0003g0237 a0001c0002t0003g0238 a0001c0002t0003g0246 a0001c0002t0003g0248 a0001c0002t0003g0249 a0001c0002t0003g0257 a0001c0002t0003g0258 a0001c0002t0003g0259 a0001c0002t0009g0241 a0001c0002t0009g0242 a0001c0002t0009g0243 a0001c0002t0009g0251 a0001c0002t0009g0252 a0001c0002t0009g0253 a0001c0002t0021g0244 a0001c0002t0021g0250 a0001c0002t0021g0254 a0001c0002t0022g0230 a0001c0002t0022g0255 a0001c0002t0022g0256 a0001c0002t0034g0217 a0001c0002t0034g0218 a0001c0002t0085g0209 a0001c0002t0086g0220 a0001c0002t0088g0239 a0001c0002t0089g0247 a0001c0002t0090g0222 a0001c0002t0091g0223 a0001c0002t0092g0226 a0001c0002t0093g0245 a0001c0002t0094g0240 a0001c0002t0095g0260 a0001c0011t0003g0234 a0001c0011t0003g0235	44	260	0.1692	-21	c.363 others(40): Show c.3631-2088_3631-2068delAGTTACCCCAGTGGTAATATT	SBNO1	ENSG00000139697.14	transcript	ENST00000602398.3	protein_coding	28/31			chr12	TogoVar
SBNO1_chr12_123284109_123369847	123338891	CCGACACA others(14): Show CCGACACACACACACACACACG	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02897.hp1 HG02055.hp2 HG02897.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0019 a0001c0003t0071 a0001c0003t0019 a0001c0003t0071	a0001c0003t0019g0065 a0001c0003t0071g0067 a0001c0003t0019g0065 a0001c0003t0071g0067	2	260	0.0077	-21	c.651 others(38): Show c.651+2076_651+2096delCGTGTGTGTGTGTGTGTGTCG	SBNO1	ENSG00000139697.14	transcript	ENST00000602398.3	protein_coding	5/31			chr12	TogoVar
SCAF1_chr19_49637209_49663642	49660007	ACACACAC others(14): Show ACACACACACACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0066 a0001c0003t0002g0066	1	382	0.0026	-21	c.16 others(32): Show c.1609_*1629delCACACACACACACACACACAC	SCAF1	ENSG00000126461.15	transcript	ENST00000360565.8	protein_coding		1366		chr19	TogoVar
SCAF8_chr6_154728416_154839221	154790489	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA20752.hp2 HG02886.hp1 NA20752.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0255 a0005c0005t0002g0256 a0005c0005t0002g0255 a0005c0005t0002g0256	2	282	0.0071	-21	c.322 others(38): Show c.322-2315_322-2295delTTTTTTTTTTTTTTTTTTTTT	SCAF8	ENSG00000213079.10	transcript	ENST00000367178.8	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCAI_chr9_124937608_125148528	125004752	TATATATA others(14): Show TATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02083.hp1 HG02135.hp2 others(8): Show HG00733.hp1 HG02083.hp1 HG02135.hp2 NA18954.hp1 NA18957.hp1 NA18989.hp1 NA18998.hp2 NA19004.hp2 NA19070.hp2 NA19084.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0007 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0007 a0002c0002t0082	a0001c0001t0001g0013 a0001c0001t0001g0112 a0002c0002t0001g0217 others(8): Show a0001c0001t0001g0013 a0001c0001t0001g0112 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0220 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0272 a0002c0002t0007g0225 a0002c0002t0007g0263 a0002c0002t0082g0268	11	306	0.0360	-21	c.862 others(38): Show c.862-1203_862-1183delTATATATATATATATATATAT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	9/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125004754	TATATATA others(14): Show TATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18982.hp1 NA18612.hp1 NA18982.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0014 a0002c0002t0007 a0002c0002t0014	a0002c0002t0007g0235 a0002c0002t0014g0274 a0002c0002t0007g0235 a0002c0002t0014g0274	2	306	0.0065	-21	c.862 others(38): Show c.862-1205_862-1185delTATATATATATATATATATAT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	9/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125004756	TATATATA others(14): Show TATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0025 a0001c0001t0032g0025	1	306	0.0033	-21	c.862 others(38): Show c.862-1207_862-1187delTATATATATATATATATATAT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	9/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125004759	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0062	1	306	0.0033	-21	c.862 others(38): Show c.862-1210_862-1190delATATATATATATATATATATA	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	9/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125004761	ATATATAT others(14): Show ATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03098.hp2 HG01109.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0043 a0001c0001t0027g0044 a0001c0001t0027g0043 a0001c0001t0027g0044	2	306	0.0065	-21	c.862 others(38): Show c.862-1212_862-1192delAAATATATATATATATATATA	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	9/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125004763	ATATATAT others(14): Show ATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA19070.hp1 HG00423.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0077 a0001c0001t0002 a0001c0001t0077	a0001c0001t0002g0048 a0001c0001t0077g0034 a0001c0001t0002g0048 a0001c0001t0077g0034	2	306	0.0065	-21	c.862 others(38): Show c.862-1214_862-1194delAAAAATATATATATATATATA	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	9/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125004771	ATATATAT others(14): Show ATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0138 a0001c0001t0040g0138	1	306	0.0033	-21	c.862 others(38): Show c.862-1222_862-1202delAAAAAAAAAAAAATATATATA	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	9/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125004773	ATATATAT others(14): Show ATATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0137 a0001c0001t0038g0137	1	306	0.0033	-21	c.862 others(38): Show c.862-1224_862-1204delAAAAAAAAAAAAAAATATATA	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	9/17			chr9	TogoVar
SCAMP1_chr5_78355617_78485739	78469912	ACAAAAAA others(14): Show ACAAAAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00642.hp2 others(49): Show HG00140.hp1 HG00280.hp2 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01515.hp1 HG01891.hp1 HG01934.hp1 HG01981.hp1 HG02004.hp2 HG02148.hp1 HG02257.hp1 HG02280.hp1 HG02486.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02886.hp2 HG03130.hp2 HG03486.hp1 HG03491.hp1 HG03516.hp1 HG03710.hp1 HG03942.hp1 HG06807.hp1 NA18942.hp2 NA18983.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA19043.hp2 NA19054.hp1 NA19070.hp1 NA19091.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0021 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0021 a0001c0001t0028 a0001c0001t0040	a0001c0001t0002g0002 a0001c0001t0002g0064 a0001c0001t0002g0065 others(48): Show a0001c0001t0002g0002 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0005g0141 a0001c0001t0021g0109 a0001c0001t0021g0110 a0001c0001t0028g0114 a0001c0001t0040g0107	52	332	0.1566	-21	c.853 others(38): Show c.853-5591_853-5571delCAAAAAAAAAAAAAAAAAAAC	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8			chr5	TogoVar
SCARA5_chr8_27864883_27997673	27865578	TATATATA others(14): Show TATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0108 a0001c0001t0002g0108	1	314	0.0032	-21	c.63 others(32): Show c.6335_*6355delTATATATATATATATATATAT	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding		4304		chr8	TogoVar
SCARA5_chr8_27864883_27997673	27865779	ATATATAT others(14): Show ATATATATATTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 NA18906.hp1 HG02896.hp1 NA18906.hp1	a0001 a0005 a0001 a0005	a0001c0007 a0005c0029 a0001c0007 a0005c0029	a0001c0007t0033 a0005c0029t0033 a0001c0007t0033 a0005c0029t0033	a0001c0007t0033g0164 a0005c0029t0033g0127 a0001c0007t0033g0164 a0005c0029t0033g0127	2	314	0.0064	-21	c.61 others(32): Show c.6134_*6154delAAAAAAAAAAAAATATATATA	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding		4103		chr8	TogoVar
SCARA5_chr8_27864883_27997673	27917143	AGTCTATG others(14): Show AGTCTATGGCATTTTGTTATGG	A A	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	314	0.0032	-21	c.916 others(38): Show c.916+4407_916+4427delCCATAACAAAATGCCATAGAC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCARB1_chr12_124771856_124868864	124837573	GAAAAGAA others(14): Show GAAAAGAAAAGAAAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01074.hp2 others(9): Show HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01243.hp2 HG01361.hp2 HG01952.hp2 HG02970.hp1 HG03209.hp1 HG03486.hp1 NA18942.hp1 NA19078.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0020 a0001c0001 a0001c0003 a0001c0020	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0003t0002 a0001c0020t0003	a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0145 others(9): Show a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0145 a0001c0001t0001g0197 a0001c0001t0003g0074 a0001c0001t0006g0024 a0001c0001t0006g0041 a0001c0001t0011g0234 a0001c0001t0012g0078 a0001c0003t0002g0069 a0001c0003t0002g0167 a0001c0020t0003g0343	12	356	0.0337	-21	c.127 others(40): Show c.127-19887_127-19867delTCTTTTCTTTTCTTTTCTTTT	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCART1_chr10_133448945_133474760	133456612	GGAGGAGG others(14): Show GGAGGAGGACTGGGAGGACGCA	G G	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	434	0.0023	-21	c.385 others(34): Show c.385+76_385+96delCGCAGAGGAGGACTGGGAGGA	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
SCG3_chr15_51676503_51726026	51709695	ATATATAT others(14): Show ATATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01358.hp1 HG03491.hp2 HG01192.hp2 HG01358.hp1 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0158 a0001c0001t0002g0141 a0001c0001t0002g0169 a0001c0001t0001g0158 a0001c0001t0002g0141 a0001c0001t0002g0169	3	402	0.0075	-21	c.120 others(40): Show c.1208-3636_1208-3616delATATATTTTTTTTTTTTTTTT	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCGN_chr6_25647215_25706783	25658003	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03540.hp2 HG03225.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0169 a0001c0001t0002g0335 a0001c0001t0002g0169 a0001c0001t0002g0335	2	368	0.0054	-21	c.154 others(38): Show c.154-3515_154-3495delTTTTTTTTTTTTTTTTTTTTT	SCGN	ENSG00000079689.15	transcript	ENST00000377961.3	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCHIP1_chr3_159268244_159902359	159399223	GATCACAC others(14): Show GATCACACTGTTTAAAATTGTA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0017	1	100	0.0100	-21	c.63+ others(40): Show c.63+125347_63+125367delCTGTTTAAAATTGTAATCACA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159704863	TTTTTCTT others(14): Show TTTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	100	0.0100	-21	c.64- others(38): Show c.64-59576_64-59556delTCTTTCTTTCTTTCTTTCTTT	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCLT1_chr4_128878993_129098539	129055981	AAGCATAG others(14): Show AAGCATAGTATCTGGGCCGAAT	A A	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0134 a0002c0003t0001g0134	1	288	0.0035	-21	c.103 others(40): Show c.103-11951_103-11931delATTCGGCCCAGATACTATGCT	SCLT1	ENSG00000151466.12	transcript	ENST00000281142.10	protein_coding	2/20			chr4	TogoVar
SCLT1_chr4_128878993_129098539	129073662	GCACAACA others(14): Show GCACAACAAATTAGTTATAGAC	G G	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0120 a0001c0002t0001g0120	1	288	0.0035	-21	c.102 others(38): Show c.102+8623_102+8643delGTCTATAACTAATTTGTTGTG	SCLT1	ENSG00000151466.12	transcript	ENST00000281142.10	protein_coding	2/20			chr4	TogoVar

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