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
SRC_chr20_37341140_37411050	37363490	A A	ATCTGGCT others(20): Show ATCTGGCTGGTATCCTGGCTGTCTGCCT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0259 a0001c0001t0018g0259	1	282	0.0036	27	c.-24 others(46): Show c.-246-1704_-246-1678dupTATCCTGGCTGTCTGCCTTCTGGCTG G	SRC	ENSG00000197122.13	transcript	ENST00000373578.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr20	TogoVar
SREK1IP1_chr5_64713148_64773691	64731521	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0041 a0001c0003t0015g0041	1	342	0.0029	27	c.206 others(44): Show c.206-3343_206-3342insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SREK1IP1	ENSG00000153006.16	transcript	ENST00000513458.9	protein_coding	3/4			chr5	TogoVar
SRGAP1_chr12_63839700_64167217	63949042	C C	CCATATAT others(20): Show CCATATATGTATTTTCCATATATATATT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0151 a0002c0004t0151	a0002c0004t0151g0122 a0002c0004t0151g0122	1	170	0.0059	27	c.68- others(44): Show c.68-34883_68-34882insATATTCATATATGTATTTTCCATATAT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	64144233	T T	TTTGTTGT others(20): Show TTTGTTGTTGTTGTTGTTGTTGTTGTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp2 HG01891.hp2 HG02135.hp2 others(9): Show HG00408.hp2 HG01891.hp2 HG02135.hp2 HG02300.hp1 HG02647.hp2 HG02698.hp2 HG03516.hp1 NA18522.hp2 NA18946.hp2 NA18952.hp2 NA18971.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0118 a0001c0001t0119 a0001c0001t0120 others(9): Show a0001c0001t0118 a0001c0001t0119 a0001c0001t0120 a0001c0001t0121 a0001c0001t0122 a0001c0001t0123 a0001c0001t0124 a0001c0001t0125 a0001c0001t0126 a0001c0001t0127 a0001c0001t0142 a0001c0001t0143	a0001c0001t0118g0078 a0001c0001t0119g0106 a0001c0001t0120g0044 others(9): Show a0001c0001t0118g0078 a0001c0001t0119g0106 a0001c0001t0120g0044 a0001c0001t0121g0108 a0001c0001t0122g0069 a0001c0001t0123g0073 a0001c0001t0124g0107 a0001c0001t0125g0139 a0001c0001t0126g0050 a0001c0001t0127g0042 a0001c0001t0142g0003 a0001c0001t0143g0007	12	170	0.0706	27	c.15 others(38): Show c.1582_*1583insTTGTTGTTGTTGTTGTTGTTGTTGTTG	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	22/22	1583	INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP2B_chr1_144882288_145100328	144882890	C C	CGGCAAAA others(20): Show CGGCAAAAAGCCACGGCGGCGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0046 a0001c0001t0009g0046	1	56	0.0179	27	c.92 others(38): Show c.9269_*9270insCCCCCCCCGCCGCCGTGGCTTTTTGCC	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding		4397		chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121239198	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0104 a0002c0002t0012g0104	1	274	0.0037	27	c.68- others(44): Show c.68-45579_68-45578insCTATATATATATATATATATATATATA	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRPK1_chr6_35827966_35926098	35880742	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	342	0.0029	27	c.478 others(44): Show c.478+5981_478+5982insCTTTCTTTCTTTTTTTTTTTTTTTTTT	SRPK1	ENSG00000096063.16	transcript	ENST00000373825.7	protein_coding	6/15			chr6	TogoVar
SRPX2_chrX_100639199_100680788	100657349	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0185 a0001c0001t0002g0185	1	318	0.0031	27	c.164 others(44): Show c.164-4808_164-4807insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SRPX2	ENSG00000102359.9	transcript	ENST00000373004.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
SRRM1_chr1_24638302_24678281	24640519	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0294 a0001c0002t0001g0294	1	352	0.0028	27	c.-28 others(38): Show c.-2808_-2807insAAAAAAAAAAAAAAAAAAAAAAAAAAA	SRRM1	ENSG00000133226.19	transcript	ENST00000323848.14	protein_coding		2782		chr1	TogoVar
SRRM3_chr7_76196896_76292287	76266232	A A	AATATATA others(20): Show AATATATATAAATATTTATATATTTAAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(47): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01257.hp2 HG01346.hp1 HG01358.hp1 HG01515.hp1 HG01517.hp2 HG01928.hp1 HG02040.hp1 HG02135.hp2 HG02148.hp2 HG02602.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02738.hp2 HG03239.hp1 HG03490.hp1 HG03654.hp2 HG03704.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG04228.hp1 NA18747.hp2 NA18967.hp1 NA18973.hp2 NA19070.hp1 NA19084.hp1 NA19088.hp2 NA19091.hp2 NA20129.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0004 a0001c0014 others(2): Show a0001c0001 a0001c0004 a0001c0014 a0004c0009 a0005c0008	a0001c0001t0001 a0001c0004t0001 a0001c0004t0009 others(3): Show a0001c0001t0001 a0001c0004t0001 a0001c0004t0009 a0001c0014t0001 a0004c0009t0001 a0005c0008t0001	a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0074 others(47): Show a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0004t0001g0124 a0001c0004t0001g0126 a0001c0004t0001g0137 a0001c0004t0009g0136 a0001c0014t0001g0285 a0001c0014t0001g0286 a0004c0009t0001g0090 a0004c0009t0001g0094 a0004c0009t0001g0096 a0005c0008t0001g0019 a0005c0008t0001g0021 a0005c0008t0001g0022	50	324	0.1543	27	c.830 others(42): Show c.830+769_830+795dupATATAAATATTTATATATTTAATATAT	SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
SRXN1_chr20_641615_658200	642070	G G	GGGGGGCC others(20): Show GGGGGGCCCAGCGGGGGTGGAGTTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp2 HG01891.hp2 others(2): Show HG01243.hp1 HG01243.hp2 HG01891.hp2 HG03195.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0012 a0001c0001t0008g0090 a0001c0001t0008g0012 a0001c0001t0008g0090	5	422	0.0119	27	c.66 others(38): Show c.6643_*6644insAGGCAACTCCACCCCCGCTGGGCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4544		chr20	TogoVar
SS18_chr18_26011253_26095613	26027703	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAAAAGAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	318	0.0031	27	c.123 others(46): Show c.1230+4695_1230+4696insGTCTTTTTTTTTTTTTTTTTTTTTTT T	SS18	ENSG00000141380.14	transcript	ENST00000415083.7	protein_coding	10/10			chr18	TogoVar
SSBP2_chr5_81407804_81756097	81415922	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAGAAAAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03139.hp2 NA19043.hp2 HG03139.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0048 a0001c0001t0026g0190 a0001c0001t0026g0048 a0001c0001t0026g0190	2	206	0.0097	27	c.45 others(38): Show c.4581_*4582insCTTTTCTTTTTTTTTTTTTTTTTTTTT	SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	17/17	4581		chr5	TogoVar
SSBP3_chr1_54220432_54411394	54235448	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0084 a0001c0001t0014g0084	1	280	0.0036	27	c.927 others(44): Show c.927+3680_927+3681insAAAAAAAAAAAAAAAAAAAAAAAAAAA	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	14/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54386683	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01243.hp2 HG02630.hp1 HG00280.hp1 HG01243.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0114 a0001c0001t0002g0148 a0001c0001t0011g0015 a0001c0001t0002g0114 a0001c0001t0002g0148 a0001c0001t0011g0015	3	280	0.0107	27	c.276 others(46): Show c.276+15177_276+15178insAAAAAAAAAAAAAAAAAAAAAAAAAA A	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17			chr1	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0242 a0005c0005t0001g0242	1	412	0.0024	27	c.138 others(44): Show c.1387+451_1387+452insATATATATATATATATATATATTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG03041.hp2 NA18973.hp1 HG01361.hp1 HG03041.hp2 NA18973.hp1	a0005 a0027 a0005 a0027	a0005c0005 a0027c0043 a0005c0005 a0027c0043	a0005c0005t0001 a0027c0043t0001 a0005c0005t0001 a0027c0043t0001	a0005c0005t0001g0224 a0005c0005t0001g0380 a0027c0043t0001g0387 a0005c0005t0001g0224 a0005c0005t0001g0380 a0027c0043t0001g0387	3	412	0.0073	27	c.138 others(44): Show c.1387+451_1387+452insATATATATATATATATATATTTTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0057 a0002c0003t0003g0057	1	412	0.0024	27	c.138 others(44): Show c.1387+451_1387+452insATATATATATATATATATTTTTTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(20): Show ATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01978.hp1 HG01975.hp1 HG01978.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0200 a0005c0005t0001g0220 a0005c0005t0001g0200 a0005c0005t0001g0220	2	412	0.0049	27	c.138 others(44): Show c.1387+451_1387+452insATATATATATATATATTTTTTTTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(20): Show ATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0052 a0052	a0052c0089 a0052c0089	a0052c0089t0004 a0052c0089t0004	a0052c0089t0004g0247 a0052c0089t0004g0247	1	412	0.0024	27	c.138 others(44): Show c.1387+451_1387+452insATATATATATATATTTTTTTTTTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495234	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02735.hp1 HG01167.hp1 HG02735.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0003 a0002c0003t0001 a0002c0003t0003	a0002c0003t0001g0054 a0002c0003t0003g0055 a0002c0003t0001g0054 a0002c0003t0003g0055	2	412	0.0049	27	c.138 others(44): Show c.1387+451_1387+452insATATATATATATATATATATATATATA	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13			chr19	TogoVar
SSH2_chr17_29620938_29935228	29913347	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAATTATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA19030.hp1 HG01081.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0046 a0001c0001t0001g0047	2	232	0.0086	27	c.63+ others(44): Show c.63+16590_63+16591insATATATATATAATTTTTTTTTTTTTTT	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15			chr17	TogoVar
SSPN_chr12_26190573_26239777	26201031	A A	ATTATATA others(20): Show ATTATATATATATATAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02886.hp1 HG01884.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0034 a0001c0002t0027 a0001c0002t0034	a0001c0002t0027g0177 a0001c0002t0034g0178 a0001c0002t0027g0177 a0001c0002t0034g0178	2	384	0.0052	27	c.279 others(44): Show c.279+5081_279+5082insTATATATATATATAATATATATATATT	SSPN	ENSG00000123096.12	transcript	ENST00000242729.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
SSTR2_chr17_73160010_73181633	73171921	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0150 a0001c0001t0150	a0001c0001t0150g0120 a0001c0001t0150g0120	1	454	0.0022	27	c.15 others(38): Show c.1502_*1528dupAAAAAAAAAAAAAAAAAAAAAAAAAAA	SSTR2	ENSG00000180616.9	transcript	ENST00000357585.4	protein_coding	2/2	1529	INFO_REALIGN_3_PRIME	chr17	TogoVar
SSU72L6_chr7_124471317_124482664	124479016	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG00738.hp2 others(4): Show HG00099.hp2 HG00639.hp1 HG00738.hp2 HG01361.hp2 HG02055.hp1 HG03579.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0000 a0001c0001t0009g0000 a0001c0001t0001g0000 a0001c0001t0009g0000	7	466	0.0150	27	c.20 others(38): Show c.2061_*2062insAAAAAAAAAAAAAAAAAAAAAAAAAAA	SSU72L6	ENSG00000230268.4	transcript	ENST00000473520.2	protein_coding		1353		chr7	TogoVar
ST13_chr22_40819535_40861639	40820663	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02738.hp1 HG02970.hp2 others(2): Show HG02723.hp1 HG02738.hp1 HG02970.hp2 HG02976.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0058 others(2): Show a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0058 a0001c0001t0001g0109 a0001c0001t0001g0191	5	344	0.0145	27	c.58 others(38): Show c.5874_*5875insTTTTTTTTTTTTTTTTTTTTTTTTTTT	ST13	ENSG00000100380.15	transcript	ENST00000216218.8	protein_coding		3871		chr22	TogoVar
ST3GAL2_chr16_70370977_70444100	70410240	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA19081.hp2 HG03710.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0068 a0001c0001t0002g0004 a0001c0001t0002g0068	2	312	0.0064	27	c.-10 others(50): Show c.-1003-10734_-1003-10708dupAAAAAAAAAAAAAAAAAAAAAA AAAAA	ST3GAL2	ENSG00000157350.13	transcript	ENST00000342907.3	protein_coding	1/6			chr16	TogoVar
ST3GAL3_chr1_43702536_43936159	43740212	A A	AAGATATC others(20): Show AAGATATCTACACACAGCAACTAGGATT	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	274	0.0037	27	c.118 others(44): Show c.118+3833_118+3834insGATATCTACACACAGCAACTAGGATTA	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST3GAL4_chr11_126350686_126419638	126416130	T T	TTGGGGGG others(20): Show TTGGGGGGGGTGGGGGTGGCTGTTCGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	324	0.0031	27	c.20 others(38): Show c.2083_*2084insTGGGGGGGGTGGGGGTGGCTGTTCGGG	ST3GAL4	ENSG00000110080.20	transcript	ENST00000444328.7	protein_coding		1493		chr11	TogoVar
ST7L_chr1_112518514_112624141	112599073	A A	AAATATAT others(20): Show AAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0317 a0001c0001t0002g0317	1	364	0.0028	27	c.507 others(42): Show c.507-988_507-987insATATATATATATATATATATATATATT	ST7L	ENSG00000007341.19	transcript	ENST00000358039.9	protein_coding	4/14			chr1	TogoVar
ST7_chr7_116948501_117235176	117097908	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	188	0.0053	27	c.152 others(44): Show c.152-1853_152-1852insATATATATATATATATATATATATTTT	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
ST8SIA5_chr18_46662821_46762053	46688192	T T	TTCTTTTA others(20): Show TTCTTTTATGTGAAAGGAAAAAAATAAA	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	362	0.0028	27	c.456 others(42): Show c.456+556_456+582dupTTTATTTTTTTCCTTTCACATAAAAGA	ST8SIA5	ENSG00000101638.14	transcript	ENST00000315087.12	protein_coding	4/6			chr18	TogoVar
ST8SIA5_chr18_46662821_46762053	46725982	T T	TATATATA others(20): Show TATATATATATATATATATATATCCTGG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0345 a0001c0001t0004g0345	1	362	0.0028	27	c.132 others(46): Show c.132-21319_132-21318insCCAGGATATATATATATATATATATA T	ST8SIA5	ENSG00000101638.14	transcript	ENST00000315087.12	protein_coding	1/6			chr18	TogoVar
ST8SIA5_chr18_46662821_46762053	46725984	T T	TATATATA others(20): Show TATATATATATATATATATATATCCTGG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02717.hp1 HG02886.hp1 others(2): Show HG02559.hp2 HG02717.hp1 HG02886.hp1 HG02895.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0027 a0001c0001t0106 others(2): Show a0001c0001t0007 a0001c0001t0027 a0001c0001t0106 a0001c0001t0107 a0001c0001t0110	a0001c0001t0007g0354 a0001c0001t0027g0048 a0001c0001t0106g0269 others(2): Show a0001c0001t0007g0354 a0001c0001t0027g0048 a0001c0001t0106g0269 a0001c0001t0107g0268 a0001c0001t0110g0270	5	362	0.0138	27	c.132 others(46): Show c.132-21321_132-21320insCCAGGATATATATATATATATATATA T	ST8SIA5	ENSG00000101638.14	transcript	ENST00000315087.12	protein_coding	1/6			chr18	TogoVar
ST8SIA6_chr10_17310421_17459595	17333718	T T	TAGATATA others(20): Show TAGATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0164 a0001c0001t0003g0164	1	296	0.0034	27	c.378 others(44): Show c.378-2167_378-2166insTATATATATATATATATATATATATCT	ST8SIA6	ENSG00000148488.17	transcript	ENST00000377602.5	protein_coding	4/7			chr10	TogoVar
ST8SIA6_chr10_17310421_17459595	17347953	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02027.hp1 NA18977.hp2 HG01891.hp2 HG02027.hp1 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0023 a0001c0001t0005g0034 a0001c0001t0005g0216 a0001c0001t0005g0023 a0001c0001t0005g0034 a0001c0001t0005g0216	3	296	0.0101	27	c.377 others(46): Show c.377+11560_377+11561insTTTTTTTTTTTTTTTTTTTTTTTTTT T	ST8SIA6	ENSG00000148488.17	transcript	ENST00000377602.5	protein_coding	4/7			chr10	TogoVar
STAC_chr3_36375504_36553007	36492031	A A	AAAAAAAA others(20): Show AAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01261.hp2 HG03041.hp1 others(1): Show HG00741.hp2 HG01261.hp2 HG03041.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0016 a0001c0002t0008 a0001c0001t0001 a0001c0001t0016 a0001c0002t0008	a0001c0001t0001g0123 a0001c0001t0001g0217 a0001c0001t0016g0132 others(1): Show a0001c0001t0001g0123 a0001c0001t0001g0217 a0001c0001t0016g0132 a0001c0002t0008g0006	4	316	0.0127	27	c.688 others(44): Show c.688-1119_688-1118insAAAAAAAAATATATATATATATATATA	STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
STAC_chr3_36375504_36553007	36492031	A A	AAAAAAAA others(20): Show AAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA19083.hp1 HG02027.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0005 a0001c0001t0001 a0001c0002t0005	a0001c0001t0001g0103 a0001c0002t0005g0007 a0001c0001t0001g0103 a0001c0002t0005g0007	2	316	0.0063	27	c.688 others(44): Show c.688-1119_688-1118insAAAAAAATATATATATATATATATATA	STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
STAC_chr3_36375504_36553007	36492031	A A	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0034 a0001c0002t0003g0034	1	316	0.0032	27	c.688 others(44): Show c.688-1119_688-1118insAAAAATATATATATATATATATATATA	STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
STAC_chr3_36375504_36553007	36492031	A A	AAAAATAT others(20): Show AAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0072 a0001c0007t0001g0072	1	316	0.0032	27	c.688 others(44): Show c.688-1119_688-1118insAAATATATATATATATATATATATATA	STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
STAG1_chr3_136331236_136757378	136396520	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA18963.hp2 HG02486.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0089 a0001c0001t0003g0218 a0001c0001t0002g0089 a0001c0001t0003g0218	2	240	0.0083	27	c.227 others(46): Show c.2277+2228_2277+2229insAAAAAAAAAAAAAAAAAAAAAAAAAA A	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	22/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136498210	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0211 a0001c0001t0003g0211	1	240	0.0042	27	c.902 others(44): Show c.902+2012_902+2013insTATATATATATATATATATATATATAT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	9/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136540822	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0130 a0001c0002t0002g0130	1	240	0.0042	27	c.471 others(44): Show c.471+1270_471+1296dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	6/33			chr3	TogoVar
STARD10_chr11_72749729_72799047	72781533	C C	CCGGGACC others(20): Show CCGGGACCCGAGGGGAGGGACGGTGCGG	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	376	0.0027	27	c.-11 others(44): Show c.-113-266_-113-240dupCCGCACCGTCCCTCCCCTCGGGTCCCG	STARD10	ENSG00000214530.10	transcript	ENST00000334805.11	protein_coding	1/6			chr11	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01978.hp2 NA19077.hp2 HG01978.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0099 a0001c0001t0001g0091 a0001c0001t0001g0099	2	268	0.0075	27	c.210 others(44): Show c.2102+621_2102+622insATATATATATATATATATATATTTTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAAAATAT others(20): Show AAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01975.hp1 NA18966.hp1 NA19010.hp1 others(1): Show HG01975.hp1 NA18966.hp1 NA19010.hp1 NA19081.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0003 a0001c0001t0001 a0003c0003t0003	a0001c0001t0001g0074 a0001c0001t0001g0114 a0003c0003t0003g0252 others(1): Show a0001c0001t0001g0074 a0001c0001t0001g0114 a0003c0003t0003g0252 a0003c0003t0003g0255	4	268	0.0149	27	c.210 others(44): Show c.2102+621_2102+622insATATATATATATATATATATATATTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAATATAT others(20): Show AAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03831.hp1 NA18974.hp2 HG02559.hp1 HG03831.hp1 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0172 a0001c0001t0001g0232 a0001c0001t0002g0150 a0001c0001t0001g0172 a0001c0001t0001g0232 a0001c0001t0002g0150	3	268	0.0112	27	c.210 others(44): Show c.2102+621_2102+622insATATATATATATATATATATATATATT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA20805.hp1 NA19010.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0102 a0001c0001t0004g0234 a0001c0001t0001g0102 a0001c0001t0004g0234	2	268	0.0075	27	c.210 others(44): Show c.2102+621_2102+622insATATATATATATATATATATATATATA	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56354014	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18952.hp2 NA20805.hp1 HG02056.hp1 NA18952.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0102 a0001c0001t0001g0173 a0001c0001t0010g0174 a0001c0001t0001g0102 a0001c0001t0001g0173 a0001c0001t0010g0174	3	268	0.0112	27	c.782 others(42): Show c.782+451_782+452insATATATATATATATATATATATATATA	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56354016	A A	AAAAAAAA others(20): Show AAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03492.hp1 NA18946.hp1 NA19065.hp1 HG03492.hp1 NA18946.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0151 a0001c0001t0001g0229 a0001c0001t0001g0230	3	268	0.0112	27	c.782 others(42): Show c.782+449_782+450insATATATATATATATATATATTTTTTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar

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