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
SPOUT1_chr9_128814651_128834794	128830632	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03516.hp2 NA20300.hp2 HG03041.hp2 HG03516.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0015 a0002c0002t0002g0002 a0002c0002t0002g0015	3	410	0.0073	-19	c.-87 others(28): Show c.-871_-853delAAAAAAAAAAAAAAAAAAA	SPOUT1	ENSG00000198917.13	transcript	ENST00000361256.10	protein_coding		839		chr9	TogoVar
SPPL2A_chr15_50697266_50770706	50703342	ATATACAT others(12): Show ATATACATATATATATTTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02818.hp2 HG02922.hp2 HG02818.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0009 a0001c0001t0023g0010 a0001c0001t0023g0009 a0001c0001t0023g0010	2	336	0.0060	-19	c.44 others(30): Show c.4439_*4457delAAAAATATATATATGTATA	SPPL2A	ENSG00000138600.11	transcript	ENST00000261854.10	protein_coding	15/15	4439		chr15	TogoVar
SPRED2_chr2_65305851_65437599	65338234	GTCTCCCT others(12): Show GTCTCCCTCTCCCGTCTCCC	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01175.hp2 HG01433.hp1 others(15): Show HG01074.hp2 HG01175.hp2 HG01433.hp1 HG01884.hp2 HG02055.hp2 HG02451.hp1 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02809.hp2 HG02886.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03486.hp1 NA19043.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009	a0001c0001t0003 a0001c0001t0008 a0001c0002t0001 others(2): Show a0001c0001t0003 a0001c0001t0008 a0001c0002t0001 a0001c0003t0003 a0001c0009t0001	a0001c0001t0003g0226 a0001c0001t0003g0230 a0001c0001t0003g0231 others(15): Show a0001c0001t0003g0226 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0252 a0001c0001t0003g0263 a0001c0001t0003g0264 a0001c0001t0008g0197 a0001c0001t0008g0198 a0001c0001t0008g0260 a0001c0002t0001g0204 a0001c0003t0003g0220 a0001c0003t0003g0222 a0001c0003t0003g0223 a0001c0003t0003g0224 a0001c0003t0003g0225 a0001c0009t0001g0221	18	276	0.0652	-19	c.205 others(36): Show c.205-3480_205-3462delGGGAGACGGGAGAGGGAGA	SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	2/5			chr2	TogoVar
SPRED3_chr19_38383697_38404587	38388375	TCTCGCCC others(12): Show TCTCGCCCCACCCCTTATCG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	360	0.0028	-19	c.-43 others(28): Show c.-436_-418delCTCGCCCCACCCCTTATCG	SPRED3	ENSG00000188766.13	transcript	ENST00000691638.1	protein_coding		321		chr19	TogoVar
SPRN_chr10_133415666_133429625	133428867	AGCATGCA others(12): Show AGCATGCAGAATAGGATGTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(226): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp2 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02970.hp1 HG03041.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 NA18522.hp2 NA18612.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18990.hp2 NA18993.hp2 NA18994.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19054.hp1 NA19055.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19070.hp2 NA19074.hp2 NA19076.hp1 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA20129.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008	a0001c0001 a0001c0007 a0001c0015 others(7): Show a0001c0001 a0001c0007 a0001c0015 a0002c0002 a0002c0003 a0003c0004 a0005c0012 a0006c0013 a0007c0014 a0008c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0021 a0001c0001t0026 a0001c0001t0046 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0007t0001 a0001c0015t0001 a0002c0002t0004 a0002c0002t0007 a0002c0002t0009 a0002c0002t0056 a0002c0003t0001 a0002c0003t0033 a0002c0003t0063 a0003c0004t0004 a0003c0004t0005 a0003c0004t0008 a0005c0012t0001 a0006c0013t0047 a0007c0014t0001 a0008c0016t0010	a0001c0001t0001g0001 a0001c0001t0001g0070 a0001c0001t0001g0071 others(36): Show a0001c0001t0001g0001 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0099 a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0088 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0010g0005 a0001c0001t0021g0025 a0001c0001t0026g0040 a0001c0001t0046g0076 a0001c0001t0048g0077 a0001c0001t0049g0087 a0001c0001t0050g0078 a0001c0001t0051g0079 a0001c0001t0052g0080 a0001c0001t0053g0081 a0001c0001t0054g0100 a0001c0007t0001g0018 a0001c0007t0001g0091 a0001c0015t0001g0084 a0002c0002t0004g0043 a0002c0002t0007g0026 a0002c0002t0009g0036 a0002c0002t0056g0102 a0002c0003t0001g0072 a0002c0003t0033g0055 a0002c0003t0063g0086 a0003c0004t0004g0019 a0003c0004t0005g0008 a0003c0004t0008g0023 a0005c0012t0001g0073 a0006c0013t0047g0074 a0007c0014t0001g0083 a0008c0016t0010g0085	229	474	0.4831	-19	c.-44 others(30): Show c.-4430_-4412delAACATCCTATTCTGCATGC	SPRN	ENSG00000203772.8	transcript	ENST00000685335.1	protein_coding		4243		chr10	TogoVar
SPRTN_chr1_231333293_231360023	231359091	TATATATA others(12): Show TATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0066 a0002c0002t0002g0066	1	352	0.0028	-19	c.57 others(30): Show c.5731_*5749delATATATATATATATATATA	SPRTN	ENSG00000010072.16	transcript	ENST00000295050.12	protein_coding		4069		chr1	TogoVar
SPRY3_chrX_155607586_155787459	155671649	GCAAATAT others(12): Show GCAAATATAAAACCTTAAGA	G G	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0093 a0001c0001t0039g0093	1	231	0.0043	-19	c.-28 others(40): Show c.-282+59005_-282+59023delAATATAAAACCTTAAGACA	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPSB4_chr3_141046347_141153611	141142803	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01109.hp2 HG01167.hp1 others(19): Show HG00738.hp2 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01243.hp2 HG01433.hp1 HG01891.hp1 HG02451.hp2 HG02559.hp1 HG02723.hp1 HG02886.hp1 HG02922.hp1 HG02970.hp1 HG03130.hp2 HG03225.hp1 HG03453.hp1 HG03516.hp2 HG06807.hp2 NA18906.hp2 NA19030.hp1 NA19043.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0001t0013 a0001c0001t0019 others(5): Show a0001c0001t0009 a0001c0001t0013 a0001c0001t0019 a0001c0001t0037 a0001c0001t0049 a0001c0001t0054 a0001c0002t0008 a0001c0002t0052	a0001c0001t0009g0147 a0001c0001t0009g0148 a0001c0001t0009g0151 others(18): Show a0001c0001t0009g0147 a0001c0001t0009g0148 a0001c0001t0009g0151 a0001c0001t0009g0154 a0001c0001t0009g0200 a0001c0001t0009g0201 a0001c0001t0013g0006 a0001c0001t0013g0140 a0001c0001t0013g0149 a0001c0001t0013g0150 a0001c0001t0019g0056 a0001c0001t0037g0153 a0001c0001t0049g0230 a0001c0001t0054g0173 a0001c0002t0008g0223 a0001c0002t0008g0224 a0001c0002t0008g0226 a0001c0002t0008g0227 a0001c0002t0008g0228 a0001c0002t0008g0229 a0001c0002t0052g0225	22	254	0.0866	-19	c.695 others(36): Show c.695-4326_695-4308delTTTTTTTTTTTTTTTTTTT	SPSB4	ENSG00000175093.5	transcript	ENST00000310546.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
SPTA1_chr1_158605704_158691715	158670655	TCTTCCTT others(12): Show TCTTCCTTTCACTTCTCTGA	T T	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0232 a0002c0002t0001g0232	1	370	0.0027	-19	c.159 others(36): Show c.1599+669_1599+687delTCAGAGAAGTGAAAGGAAG	SPTA1	ENSG00000163554.15	transcript	ENST00000643759.2	protein_coding	12/51			chr1	TogoVar
SPTAN1_chr9_128547587_128638662	128562971	AATATATA others(12): Show AATATATATATACATGTATG	A A	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	312	0.0032	-19	c.-3- others(34): Show c.-3-3766_-3-3748delATATATATATACATGTATG	SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	1/56			chr9	TogoVar
SPTBN1_chr2_54451327_54676446	54466561	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0218 a0001c0004t0004g0218	1	370	0.0027	-19	c.-48 others(38): Show c.-48+10071_-48+10089delAAAAAAAAAAAAAAAAAAA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54654954	ACCATCAG others(12): Show ACCATCAGTTTCTTTCAAGG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp2 others(86): Show HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01071.hp1 HG01081.hp1 HG01123.hp1 HG01175.hp1 HG01192.hp2 HG01256.hp2 HG01257.hp1 HG01361.hp1 HG01433.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02135.hp1 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02622.hp2 HG02683.hp1 HG02698.hp1 HG03017.hp2 HG03491.hp2 HG03540.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG04115.hp1 NA18612.hp1 NA18944.hp2 NA18946.hp2 NA18951.hp1 NA18956.hp2 NA18959.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18977.hp1 NA18978.hp2 NA18983.hp1 NA18985.hp2 NA18986.hp2 NA18987.hp1 NA18989.hp2 NA18992.hp2 NA18993.hp2 NA18998.hp1 NA19001.hp1 NA19002.hp1 NA19010.hp2 NA19054.hp2 NA19056.hp1 NA19058.hp2 NA19064.hp1 NA19065.hp1 NA19068.hp1 NA19074.hp2 NA19076.hp2 NA19081.hp1 NA19082.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp2 NA20752.hp2	a0001 a0005 a0010 a0001 a0005 a0010	a0001c0001 a0001c0002 a0001c0007 others(6): Show a0001c0001 a0001c0002 a0001c0007 a0001c0014 a0001c0019 a0001c0021 a0001c0026 a0005c0028 a0010c0034	a0001c0001t0001 a0001c0001t0029 a0001c0002t0001 others(16): Show a0001c0001t0001 a0001c0001t0029 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0028 a0001c0002t0029 a0001c0002t0046 a0001c0002t0047 a0001c0002t0048 a0001c0007t0001 a0001c0014t0001 a0001c0014t0037 a0001c0019t0012 a0001c0021t0001 a0001c0026t0006 a0005c0028t0001 a0010c0034t0001	a0001c0001t0001g0087 a0001c0001t0001g0156 a0001c0001t0029g0100 others(86): Show a0001c0001t0001g0087 a0001c0001t0001g0156 a0001c0001t0029g0100 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0028 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0077 a0001c0002t0001g0080 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0086 a0001c0002t0001g0103 a0001c0002t0001g0111 a0001c0002t0001g0115 a0001c0002t0001g0117 a0001c0002t0001g0121 a0001c0002t0001g0124 a0001c0002t0001g0133 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0186 a0001c0002t0001g0204 a0001c0002t0001g0231 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0287 a0001c0002t0001g0307 a0001c0002t0001g0308 a0001c0002t0001g0310 a0001c0002t0001g0312 a0001c0002t0001g0324 a0001c0002t0001g0325 a0001c0002t0001g0326 a0001c0002t0001g0330 a0001c0002t0001g0331 a0001c0002t0001g0333 a0001c0002t0001g0334 a0001c0002t0001g0335 a0001c0002t0001g0337 a0001c0002t0001g0359 a0001c0002t0004g0101 a0001c0002t0005g0122 a0001c0002t0006g0089 a0001c0002t0006g0114 a0001c0002t0006g0116 a0001c0002t0006g0148 a0001c0002t0006g0149 a0001c0002t0006g0154 a0001c0002t0006g0155 a0001c0002t0006g0157 a0001c0002t0006g0158 a0001c0002t0006g0159 a0001c0002t0006g0160 a0001c0002t0006g0271 a0001c0002t0006g0276 a0001c0002t0006g0278 a0001c0002t0006g0281 a0001c0002t0006g0284 a0001c0002t0006g0299 a0001c0002t0006g0313 a0001c0002t0006g0314 a0001c0002t0006g0323 a0001c0002t0006g0327 a0001c0002t0006g0328 a0001c0002t0028g0294 a0001c0002t0028g0295 a0001c0002t0029g0339 a0001c0002t0046g0332 a0001c0002t0047g0279 a0001c0002t0048g0025 a0001c0007t0001g0081 a0001c0007t0001g0119 a0001c0007t0001g0192 a0001c0007t0001g0222 a0001c0007t0001g0302 a0001c0007t0001g0311 a0001c0014t0001g0013 a0001c0014t0001g0029 a0001c0014t0037g0011 a0001c0019t0012g0246 a0001c0019t0012g0252 a0001c0021t0001g0197 a0001c0026t0006g0102 a0005c0028t0001g0006 a0010c0034t0001g0002	89	370	0.2405	-19	c.582 others(34): Show c.5823-98_5823-80delGGCCATCAGTTTCTTTCAA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	27/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN4_chr19_40462001_40581464	40531464	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG02615.hp1 others(4): Show HG01891.hp2 HG02055.hp1 HG02615.hp1 HG02895.hp2 HG03453.hp1 HG03579.hp1 NA19043.hp1	a0001 a0004 a0021 a0001 a0004 a0021	a0001c0010 a0004c0007 a0004c0011 others(2): Show a0001c0010 a0004c0007 a0004c0011 a0004c0025 a0021c0031	a0001c0010t0001 a0004c0007t0003 a0004c0011t0001 others(2): Show a0001c0010t0001 a0004c0007t0003 a0004c0011t0001 a0004c0025t0001 a0021c0031t0001	a0001c0010t0001g0093 a0004c0007t0003g0002 a0004c0011t0001g0137 others(4): Show a0001c0010t0001g0093 a0004c0007t0003g0002 a0004c0011t0001g0137 a0004c0011t0001g0138 a0004c0011t0001g0142 a0004c0025t0001g0056 a0021c0031t0001g0057	7	234	0.0299	-19	c.394 others(38): Show c.3949-1144_3949-1126delTTTTTTTTTTTTTTTTTTT	SPTBN4	ENSG00000160460.17	transcript	ENST00000598249.6	protein_coding	18/35		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPTSSA_chr14_34427788_34467240	34439567	CTTCCCAA others(12): Show CTTCCCAACAGTCCAAACCA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02486.hp2 HG01884.hp2 HG02055.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0027 a0001c0001t0015 a0001c0001t0027	a0001c0001t0015g0013 a0001c0001t0015g0316 a0001c0001t0027g0317 a0001c0001t0015g0013 a0001c0001t0015g0316 a0001c0001t0027g0317	3	344	0.0087	-19	c.113 others(36): Show c.113-4282_113-4264delTGGTTTGGACTGTTGGGAA	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SQSTM1_chr5_179815905_179843078	179823445	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19080.hp1 NA19030.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0006 a0001c0001t0001 a0001c0002t0006	a0001c0001t0001g0340 a0001c0002t0006g0151 a0001c0001t0001g0340 a0001c0002t0006g0151	2	462	0.0043	-19	c.302 others(34): Show c.302-396_302-378delAAAAAAAAAAAAAAAAAAA	SQSTM1	ENSG00000161011.20	transcript	ENST00000389805.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
SRCIN1_chr17_38525031_38610952	38537377	TGCAGTCC others(12): Show TGCAGTCCAGCTACTTGGAA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	261	0.0038	-19	c.341 others(38): Show c.3418-3965_3418-3947delTTCCAAGTAGCTGGACTGC	SRCIN1	ENSG00000277363.5	transcript	ENST00000617146.5	protein_coding	18/18			chr17	TogoVar
SREK1_chr5_66139300_66188615	66184223	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02145.hp2 HG02572.hp1 others(3): Show HG01891.hp2 HG02145.hp2 HG02572.hp1 HG02809.hp2 HG02970.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0017 others(2): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0017 a0001c0001t0028 a0001c0001t0031	a0001c0001t0002g0220 a0001c0001t0008g0030 a0001c0001t0017g0239 others(3): Show a0001c0001t0002g0220 a0001c0001t0008g0030 a0001c0001t0017g0239 a0001c0001t0017g0240 a0001c0001t0028g0127 a0001c0001t0031g0030	6	386	0.0155	-19	c.53 others(30): Show c.5356_*5374delTTTTTTTTTTTTTTTTTTT	SREK1	ENSG00000153914.16	transcript	ENST00000334121.11	protein_coding		609		chr5	TogoVar
SRGAP1_chr12_63839700_64167217	63868074	TTTTTGTT others(12): Show TTTTTGTTTTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0021 a0001c0002t0020g0021	1	170	0.0059	-19	c.67+ others(36): Show c.67+23196_67+23214delGTTTTTTTTTTTTTGTTTT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	63983836	ATATATAT others(12): Show ATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0047 a0001c0002t0047	a0001c0002t0047g0127 a0001c0002t0047g0127	1	170	0.0059	-19	c.68- others(31): Show c.68-109_68-91delATATATATATATATATATT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP2C_chr1_121179975_121397874	121249564	ATATATAT others(12): Show ATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02965.hp1 HG02970.hp2 others(3): Show HG02280.hp1 HG02965.hp1 HG02970.hp2 HG03139.hp1 NA19043.hp1 NA21309.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0007 a0001c0001 a0002c0002 a0007c0007	a0001c0001t0045 a0002c0002t0009 a0007c0007t0052 a0001c0001t0045 a0002c0002t0009 a0007c0007t0052	a0001c0001t0045g0217 a0002c0002t0009g0254 a0002c0002t0009g0255 others(3): Show a0001c0001t0045g0217 a0002c0002t0009g0254 a0002c0002t0009g0255 a0002c0002t0009g0256 a0002c0002t0009g0257 a0007c0007t0052g0273	6	274	0.0219	-19	c.68- others(36): Show c.68-35237_68-35219delATATATATATATATATTTT	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121354257	CTCTCCTT others(12): Show CTCTCCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01884.hp2 HG02040.hp1 others(8): Show HG01255.hp2 HG01884.hp2 HG02040.hp1 HG02559.hp1 HG02630.hp2 HG02818.hp1 HG06807.hp1 NA18957.hp2 NA18994.hp2 NA19070.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0047 a0001c0001t0001 a0001c0001t0047	a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0115 others(8): Show a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0131 a0001c0001t0001g0146 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0195 a0001c0001t0001g0206 a0001c0001t0001g0239 a0001c0001t0047g0181	11	274	0.0402	-19	c.424 others(38): Show c.424-11032_424-11014delCCTTTCTTTCTTTCTTTCT	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2_chr1_206198541_206469436	206282862	CACTCTGT others(12): Show CACTCTGTGTTCACATTAAT	C C	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0035 a0001c0003t0035	a0001c0003t0035g0122 a0001c0003t0035g0122	1	182	0.0055	-19	c.68- others(36): Show c.68-20417_68-20399delCTCTGTGTTCACATTAATA	SRGAP2	ENSG00000266028.8	transcript	ENST00000573034.8	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP3_chr3_8975591_9254646	9062379	GTAGTCCT others(12): Show GTAGTCCTATCATTCCCTGC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG01070.hp2 others(22): Show HG00099.hp2 HG00323.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01169.hp2 HG01175.hp2 HG01516.hp1 HG01934.hp1 HG01981.hp1 HG02165.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02622.hp1 HG02818.hp2 HG03579.hp1 HG03831.hp2 NA18522.hp1 NA18962.hp1 NA18993.hp1 NA19005.hp1 NA19007.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0017 a0006c0019 a0001c0001 a0001c0017 a0006c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0025 a0001c0001t0032 a0001c0001t0046 a0001c0001t0051 a0001c0017t0014 a0006c0019t0017	a0001c0001t0001g0024 a0001c0001t0001g0045 a0001c0001t0001g0112 others(22): Show a0001c0001t0001g0024 a0001c0001t0001g0045 a0001c0001t0001g0112 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0002g0094 a0001c0001t0002g0102 a0001c0001t0003g0019 a0001c0001t0003g0149 a0001c0001t0003g0152 a0001c0001t0006g0030 a0001c0001t0006g0108 a0001c0001t0006g0131 a0001c0001t0008g0054 a0001c0001t0013g0022 a0001c0001t0014g0177 a0001c0001t0017g0098 a0001c0001t0025g0088 a0001c0001t0032g0055 a0001c0001t0046g0223 a0001c0001t0051g0190 a0001c0017t0014g0219 a0006c0019t0017g0089	25	228	0.1097	-19	c.672 others(36): Show c.672+1998_672+2016delGCAGGGAATGATAGGACTA	SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	5/21			chr3	TogoVar
SRL_chr16_4184374_4247080	4203132	AATCTCAA others(12): Show AATCTCAAGCCCTACCTGTT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02886.hp1 HG03139.hp1 HG02622.hp1 HG02886.hp1 HG03139.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0009 a0002c0005t0009	a0002c0005t0009g0026 a0002c0005t0009g0084 a0002c0005t0009g0127 a0002c0005t0009g0026 a0002c0005t0009g0084 a0002c0005t0009g0127	3	358	0.0084	-19	c.259 others(32): Show c.259+15_259+33delAACAGGTAGGGCTTGAGAT	SRL	ENSG00000185739.13	transcript	ENST00000399609.7	protein_coding	3/5			chr16	TogoVar
SRP54_chr14_34977992_35034567	34984283	TGATTTTC others(12): Show TGATTTTCTCCTATGTGCCA	T T	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18978.hp2 NA18950.hp1 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0281 a0001c0001t0002g0282	2	396	0.0051	-19	c.-34 others(36): Show c.-34+1069_-34+1087delGATTTTCTCCTATGTGCCA	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	1/15			chr14	TogoVar
SRP54_chr14_34977992_35034567	34998986	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0376 a0001c0001t0002g0376	1	396	0.0025	-19	c.79- others(32): Show c.79-571_79-553delGTGTGTGTGTGTGTGTGTG	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	2/15			chr14	TogoVar
SRPK1_chr6_35827966_35926098	35918447	GCCGAGAT others(12): Show GCCGAGATCGCACCATTGCA	G G	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0238 a0001c0002t0002g0238	1	342	0.0029	-19	c.74+ others(34): Show c.74+2002_74+2020delTGCAATGGTGCGATCTCGG	SRPK1	ENSG00000096063.16	transcript	ENST00000373825.7	protein_coding	2/15			chr6	TogoVar
SRPK2_chr7_105111374_105393921	105280947	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	282	0.0036	-19	c.72- others(36): Show c.72-77181_72-77163delTTTTTTTTTTTTTTTTTTT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRRM1_chr1_24638302_24678281	24668917	CTGCAGAC others(12): Show CTGCAGACAGTGTCCTGTGT	C C	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0118 a0001c0001t0004g0118	1	352	0.0028	-19	c.174 others(36): Show c.1740-200_1740-182delACAGTGTCCTGTGTTGCAG	SRRM1	ENSG00000133226.19	transcript	ENST00000323848.14	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRRM2_chr16_2747638_2776412	2752963	CGACGCCC others(12): Show CGACGCCCTTCGCTGGCGCG	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0049 a0004c0009t0001g0049	1	402	0.0025	-19	c.-32 others(34): Show c.-32+126_-32+144delTCGCTGGCGCGGACGCCCT	SRRM2	ENSG00000167978.19	transcript	ENST00000301740.13	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SRRM3_chr7_76196896_76292287	76225416	GGCTGGCA others(12): Show GGCTGGCAAGGCCAGGAAAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG01106.hp2 others(12): Show HG00099.hp2 HG00140.hp1 HG01106.hp2 HG01169.hp2 HG01358.hp1 HG02683.hp1 HG02698.hp1 HG03239.hp1 HG03490.hp1 HG03654.hp2 HG03704.hp2 HG04184.hp2 HG04228.hp1 NA20129.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0004t0009 a0001c0001t0001 a0001c0004t0001 a0001c0004t0009	a0001c0001t0001g0059 a0001c0001t0001g0118 a0001c0001t0001g0119 others(12): Show a0001c0001t0001g0059 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0004t0001g0124 a0001c0004t0001g0126 a0001c0004t0001g0137 a0001c0004t0009g0136	15	324	0.0463	-19	c.-39 others(36): Show c.-39-9611_-39-9593delGCTGGCAAGGCCAGGAAAA	SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	1/14			chr7	TogoVar
SRRM5_chr19_43607088_43619498	43608274	ACTGGCAC others(12): Show ACTGGCACCCAGTAGATTCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01256.hp2 HG01258.hp1 others(9): Show HG01099.hp1 HG01256.hp2 HG01258.hp1 HG02486.hp2 HG03017.hp1 HG03130.hp2 HG03209.hp1 HG03540.hp1 HG03540.hp2 NA19030.hp1 NA19043.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0001 a0001c0016t0001 a0001c0001t0001 a0001c0016t0001	a0001c0001t0001g0000 a0001c0016t0001g0000 a0001c0001t0001g0000 a0001c0016t0001g0000	12	416	0.0289	-19	c.-38 others(30): Show c.-3847_-3829delCTGGCACCCAGTAGATTCC	SRRM5	ENSG00000226763.5	transcript	ENST00000417606.3	protein_coding		3813		chr19	TogoVar
SRXN1_chr20_641615_658200	642490	TCTGGAAG others(12): Show TCTGGAAGGGGCCGCGCGGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp1 NA19004.hp1 NA18939.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	2	422	0.0047	-19	c.62 others(30): Show c.6205_*6223delGCCGCGCGGCCCCTTCCAG	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4124		chr20	TogoVar
SS18L2_chr3_42585860_42601934	42599221	TCCCAAAG others(12): Show TCCCAAAGTGCTGGGATTAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	388	0.0026	-19	c.47 others(30): Show c.4713_*4731delCCCAAAGTGCTGGGATTAC	SS18L2	ENSG00000008324.12	transcript	ENST00000011691.6	protein_coding		2288		chr3	TogoVar
SSBP2_chr5_81407804_81756097	81671659	ACTTAAGA others(12): Show ACTTAAGAAAAAAACAAAAT	A A	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0184 a0001c0002t0001g0184	1	206	0.0049	-19	c.63- others(36): Show c.63-21339_63-21321delATTTTGTTTTTTTCTTAAG	SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	1/16			chr5	TogoVar
SSBP3_chr1_54220432_54411394	54241573	CCCTGAGG others(12): Show CCCTGAGGACACGACCCACT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA18906.hp1 HG03579.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0031 a0001c0002t0002 a0001c0002t0031	a0001c0002t0002g0083 a0001c0002t0031g0110 a0001c0002t0002g0083 a0001c0002t0031g0110	2	280	0.0071	-19	c.766 others(32): Show c.766-83_766-65delAGTGGGTCGTGTCCTCAGG	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	11/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54289026	AAAAAAAA others(12): Show AAAAAAAAAAACAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02145.hp1 HG03139.hp1 HG01261.hp2 HG02145.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0001 a0001c0001t0006 a0001c0001t0007	a0001c0001t0001g0131 a0001c0001t0006g0222 a0001c0001t0007g0204 a0001c0001t0001g0131 a0001c0001t0006g0222 a0001c0001t0007g0204	3	280	0.0107	-19	c.277 others(36): Show c.277-7518_277-7500delGTTTTTTTGTTTTTTTTTT	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54294156	AAAAAAAG others(12): Show AAAAAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02922.hp1 HG03130.hp1 HG02145.hp2 HG02922.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0061 a0001c0001t0004g0105 a0001c0001t0005g0103 a0001c0001t0004g0061 a0001c0001t0004g0105 a0001c0001t0005g0103	3	280	0.0107	-19	c.277 others(38): Show c.277-12648_277-12630delCTTTCTTTCTTTCTTTTTT	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54316658	AATAAAAT others(12): Show AATAAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp2 HG02074.hp1 others(9): Show HG00438.hp2 HG00597.hp2 HG02074.hp1 HG02129.hp2 HG03490.hp1 HG03492.hp2 NA18906.hp2 NA18977.hp2 NA18995.hp1 NA19043.hp2 NA19080.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0024 a0001c0001t0028 a0001c0001t0035 a0001c0005t0025	a0001c0001t0001g0040 a0001c0001t0003g0224 a0001c0001t0006g0218 others(9): Show a0001c0001t0001g0040 a0001c0001t0003g0224 a0001c0001t0006g0218 a0001c0001t0008g0252 a0001c0001t0010g0268 a0001c0001t0010g0271 a0001c0001t0010g0272 a0001c0001t0010g0273 a0001c0001t0024g0043 a0001c0001t0028g0269 a0001c0001t0035g0158 a0001c0005t0025g0134	12	280	0.0429	-19	c.277 others(38): Show c.277-35150_277-35132delATTTATTTATTTATTTTAT	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17			chr1	TogoVar
SSH2_chr17_29620938_29935228	29913348	ATATATAT others(12): Show ATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0102 a0001c0001t0003g0102	1	232	0.0043	-19	c.63+ others(36): Show c.63+16571_63+16589delATATATATATATATATATA	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15			chr17	TogoVar
SSPN_chr12_26190573_26239777	26201027	ATATATAT others(12): Show ATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG03017.hp1 HG03834.hp2 others(2): Show HG02074.hp2 HG03017.hp1 HG03834.hp2 NA18948.hp2 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0064 a0001c0001t0001 a0001c0001t0064	a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 others(2): Show a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0064g0099	5	384	0.0130	-19	c.279 others(36): Show c.279+5090_279+5108delATATATTATATATATATAT	SSPN	ENSG00000123096.12	transcript	ENST00000242729.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
SSU72_chr1_1536673_1579863	1540128	GGGGGAGC others(12): Show GGGGGAGCGCAGGCCGGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01261.hp1 HG01515.hp2 others(6): Show HG00639.hp2 HG01261.hp1 HG01515.hp2 HG01517.hp2 NA18906.hp2 NA18960.hp1 NA18973.hp2 NA18986.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0002t0002 a0001c0005t0002 a0001c0001t0001 a0001c0002t0002 a0001c0005t0002	a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0141 others(5): Show a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0002t0002g0296 a0001c0002t0002g0312 a0001c0002t0002g0324 a0001c0005t0002g0318	9	386	0.0233	-19	c.19 others(30): Show c.1919_*1937delTCCCCGGCCTGCGCTCCCC	SSU72	ENSG00000160075.12	transcript	ENST00000291386.4	protein_coding		1544		chr1	TogoVar
SSU72_chr1_1536673_1579863	1573429	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp2 HG02895.hp1 others(6): Show HG01109.hp1 HG01884.hp2 HG02895.hp1 HG02965.hp1 HG03098.hp1 HG03225.hp1 HG03486.hp1 HG03579.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 others(6): Show a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133	9	386	0.0233	-19	c.80+ others(34): Show c.80+1030_80+1048delTTTTTTTTTTTTTTTTTTT	SSU72	ENSG00000160075.12	transcript	ENST00000291386.4	protein_coding	1/4			chr1	TogoVar
SSX2_chrX_52691896_52712178	52701224	TTTTTTTC others(12): Show TTTTTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0030 a0001c0001t0013g0030	1	98	0.0102	-19	c.331 others(34): Show c.331-665_331-647delGAAAGAAAGAAAGAAAAAA	SSX2	ENSG00000241476.9	transcript	ENST00000337502.6	protein_coding	5/7			chrX	TogoVar
ST13_chr22_40819535_40861639	40829903	AACAAGTA others(12): Show AACAAGTAAACCTGGAAAAC	A A	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	344	0.0029	-19	c.799 others(34): Show c.799-248_799-230delGTTTTCCAGGTTTACTTGT	ST13	ENSG00000100380.15	transcript	ENST00000216218.8	protein_coding	9/11			chr22	TogoVar
ST3GAL1_chr8_133449848_133576887	133453926	GTATTTAT others(12): Show GTATTTATATAGAGGTATTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0042 a0001c0002t0042	a0001c0002t0042g0004 a0001c0002t0042g0004	1	332	0.0030	-19	c.58 others(30): Show c.5819_*5837delTAATACCTCTATATAAATA	ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding		921		chr8	TogoVar
ST3GAL2_chr16_70370977_70444100	70408890	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02451.hp1 HG02486.hp1 others(3): Show HG02109.hp1 HG02451.hp1 HG02486.hp1 HG02717.hp1 HG03486.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0038 a0001c0001t0039 others(1): Show a0001c0001t0023 a0001c0001t0038 a0001c0001t0039 a0001c0001t0105	a0001c0001t0023g0236 a0001c0001t0038g0311 a0001c0001t0038g0312 others(3): Show a0001c0001t0023g0236 a0001c0001t0038g0311 a0001c0001t0038g0312 a0001c0001t0039g0308 a0001c0001t0039g0309 a0001c0001t0105g0310	6	312	0.0192	-19	c.-10 others(40): Show c.-1003-9376_-1003-9358delTTTTTTTTTTTTTTTTTTT	ST3GAL2	ENSG00000157350.13	transcript	ENST00000342907.3	protein_coding	1/6			chr16	TogoVar
ST3GAL2_chr16_70370977_70444100	70426132	GATCCTAC others(12): Show GATCCTACGTTCCATTGCTC	G G	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	312	0.0032	-19	c.-10 others(42): Show c.-1004+12798_-1004+12816delGAGCAATGGAACGTAGGAT	ST3GAL2	ENSG00000157350.13	transcript	ENST00000342907.3	protein_coding	1/6			chr16	TogoVar
ST3GAL3_chr1_43702536_43936159	43778745	ACGCCATT others(12): Show ACGCCATTCTCCTGCCTCAG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0132 a0001c0001t0002g0132	1	274	0.0037	-19	c.119 others(38): Show c.119-13355_119-13337delGCCATTCTCCTGCCTCAGC	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST3GAL3_chr1_43702536_43936159	43861434	GCTGTCAG others(12): Show GCTGTCAGGACTTGTATAGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(174): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01256.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01891.hp2 HG01934.hp1 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02523.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03516.hp2 HG03579.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG04115.hp2 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18954.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18993.hp2 NA18994.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19090.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0028 others(174): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0028 a0001c0001t0001g0039 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0226 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0260 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0026 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0048 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0149 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0181 a0001c0001t0002g0185 a0001c0001t0002g0210 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0002g0234 a0001c0001t0005g0006 a0001c0001t0005g0007 a0001c0001t0010g0151	177	274	0.6460	-19	c.302 others(38): Show c.302+23127_302+23145delTCAGGACTTGTATAGACTG	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr1	TogoVar

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