JoGo: Joint Open Genome and Omics Platform

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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
SHTN1_chr10_116876477_117010187	116893576	G G	GCACACAC others(23): Show GCACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01168.hp1 HG01952.hp1 others(4): Show HG00639.hp2 HG01168.hp1 HG01952.hp1 HG03017.hp1 HG04228.hp1 HG04228.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0033	a0001c0001t0001g0052 a0001c0001t0001g0101 a0001c0001t0003g0224 others(4): Show a0001c0001t0001g0052 a0001c0001t0001g0101 a0001c0001t0003g0224 a0001c0001t0010g0077 a0001c0001t0010g0079 a0001c0001t0010g0080 a0001c0001t0033g0056	7	292	0.0240	30	c.167 others(49): Show c.1674-7011_1674-7010insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTG	SHTN1	ENSG00000187164.20	transcript	ENST00000355371.9	protein_coding	16/16			chr10	TogoVar
SHTN1_chr10_116876477_117010187	116893576	G G	GCACGCAC others(23): Show GCACGCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0018 a0001c0001t0028g0018	1	292	0.0034	30	c.167 others(49): Show c.1674-7011_1674-7010insTGTGTGTGTGTGTGTGTGTGTGTGTG CGTG	SHTN1	ENSG00000187164.20	transcript	ENST00000355371.9	protein_coding	16/16			chr10	TogoVar
SIAH3_chr13_45772242_45856753	45822520	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02004.hp1 NA18972.hp1 HG02004.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0010 a0001c0001t0005 a0001c0001t0010	a0001c0001t0005g0267 a0001c0001t0010g0137 a0001c0001t0005g0267 a0001c0001t0010g0137	2	364	0.0055	30	c.135 others(49): Show c.135+28945_135+28974dupATATATATATATATATATATATATAT ATAT	SIAH3	ENSG00000215475.5	transcript	ENST00000400405.4	protein_coding	1/1			chr13	TogoVar
SIAH3_chr13_45772242_45856753	45843032	C C	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03490.hp1 NA18956.hp2 HG00642.hp2 HG03490.hp1 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0023 a0001c0001t0007g0220 a0001c0001t0007g0221 a0001c0001t0003g0023 a0001c0001t0007g0220 a0001c0001t0007g0221	3	364	0.0082	30	c.135 others(47): Show c.135+8462_135+8463insCACACACACACACACACACACACACACA CA	SIAH3	ENSG00000215475.5	transcript	ENST00000400405.4	protein_coding	1/1			chr13	TogoVar
SIAH3_chr13_45772242_45856753	45843034	C C	CTCTCTGT others(23): Show CTCTCTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00597.hp2 HG01069.hp1 others(4): Show HG00558.hp1 HG00597.hp2 HG01069.hp1 HG02155.hp1 HG02300.hp1 NA18973.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0059 a0001c0001t0097 a0001c0001t0101	a0001c0001t0001g0080 a0001c0001t0002g0193 a0001c0001t0005g0075 others(4): Show a0001c0001t0001g0080 a0001c0001t0002g0193 a0001c0001t0005g0075 a0001c0001t0010g0347 a0001c0001t0059g0068 a0001c0001t0097g0088 a0001c0001t0101g0069	7	364	0.0192	30	c.135 others(47): Show c.135+8460_135+8461insCACACACACACACACACACACACACAGA GA	SIAH3	ENSG00000215475.5	transcript	ENST00000400405.4	protein_coding	1/1			chr13	TogoVar
SIGIRR_chr11_400716_419999	401194	A A	ACCCACCC others(23): Show ACCCACCCCGCTCACACCCGCCCCGCTCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	242	0.0041	30	c.47 others(41): Show c.4701_*4702insGGTGAGCGGGGCGGGTGTGAGCGGGGTGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4521		chr11	TogoVar
SIGIRR_chr11_400716_419999	401194	A A	ACCCGCCC others(23): Show ACCCGCCCCGCTCACACCCGCCCCGCTCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00423.hp2 others(35): Show HG00280.hp2 HG00323.hp1 HG00423.hp2 HG00597.hp1 HG00609.hp2 HG00735.hp2 HG01099.hp2 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01517.hp2 HG01891.hp1 HG01928.hp1 HG01993.hp2 HG02074.hp2 HG02109.hp2 HG02132.hp2 HG02165.hp2 HG02293.hp1 HG02300.hp1 HG02486.hp1 HG02809.hp2 HG02886.hp2 HG02976.hp1 HG03017.hp1 HG03130.hp2 HG03492.hp2 HG03704.hp1 NA18612.hp2 NA18969.hp1 NA18971.hp1 NA18978.hp2 NA19030.hp2 NA19065.hp1 NA19085.hp2 NA20129.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0003c0007 a0004c0005 others(1): Show a0001c0001 a0003c0007 a0004c0005 a0005c0009	a0001c0001t0001 a0001c0001t0003 a0003c0007t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0003c0007t0001 a0004c0005t0001 a0005c0009t0001	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0009 others(34): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0061 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0179 a0001c0001t0001g0236 a0001c0001t0003g0110 a0003c0007t0001g0100 a0004c0005t0001g0050 a0005c0009t0001g0073	38	242	0.1570	30	c.47 others(41): Show c.4701_*4702insGGTGAGCGGGGCGGGTGTGAGCGGGGCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4521		chr11	TogoVar
SIGIRR_chr11_400716_419999	401199	G G	CCCCGCTC others(23): Show CCCCGCTCACACCCGCCCCGCTCACCCCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00558.hp1 others(10): Show HG00099.hp2 HG00280.hp1 HG00558.hp1 HG01934.hp2 HG01975.hp1 HG02074.hp1 HG02451.hp1 HG02723.hp2 HG03017.hp2 HG04228.hp1 HG06807.hp2 NA18983.hp2 NA20129.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0001 a0001c0001t0001 a0004c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0047 others(10): Show a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0063 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0085 a0001c0001t0001g0126 a0001c0001t0001g0133 a0001c0001t0001g0177 a0004c0005t0001g0016 a0004c0005t0001g0087	13	242	0.0537	30	c.46 others(41): Show c.4697_*4698insCGGGGGTGAGCGGGGCGGGTGTGAGCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4517		chr11	TogoVar
SIGIRR_chr11_400716_419999	401707	G G	GCCCCGCT others(23): Show GCCCCGCTCACCCCCAGCCCCGCTCACACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	242	0.0041	30	c.41 others(41): Show c.4188_*4189insAGGTGTGAGCGGGGCTGGGGGTGAGCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4008		chr11	TogoVar
SIK3_chr11_116838402_117103428	116842618	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0008 a0004c0006t0008	a0004c0006t0008g0361 a0004c0006t0008g0361	1	366	0.0027	30	c.30 others(41): Show c.3024_*3025insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding		783		chr11	TogoVar
SIK3_chr11_116838402_117103428	116917827	G G	GAAGGAAA others(23): Show GAAGGAAAGGAAAGGAAAGGAAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00738.hp2 HG01261.hp2 others(19): Show HG00609.hp2 HG00738.hp2 HG01261.hp2 HG01891.hp1 HG02071.hp1 HG02280.hp1 HG02647.hp1 HG03490.hp2 HG03492.hp1 NA18975.hp2 NA18978.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp2 NA18989.hp2 NA18990.hp1 NA18999.hp1 NA19054.hp2 NA19056.hp2 NA19064.hp1 NA19080.hp1 NA20300.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0017	a0001c0001 a0001c0002 a0003c0005 others(2): Show a0001c0001 a0001c0002 a0003c0005 a0004c0006 a0017c0022	a0001c0001t0002 a0001c0001t0004 a0001c0002t0003 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0002t0003 a0003c0005t0005 a0004c0006t0008 a0017c0022t0004	a0001c0001t0002g0097 a0001c0001t0002g0130 a0001c0001t0002g0132 others(19): Show a0001c0001t0002g0097 a0001c0001t0002g0130 a0001c0001t0002g0132 a0001c0001t0004g0111 a0001c0001t0004g0112 a0001c0001t0004g0118 a0001c0001t0004g0126 a0001c0001t0004g0129 a0001c0001t0004g0131 a0001c0001t0004g0133 a0001c0001t0004g0135 a0001c0001t0004g0137 a0001c0001t0004g0139 a0001c0001t0004g0142 a0001c0001t0004g0143 a0001c0001t0004g0145 a0001c0001t0004g0147 a0001c0001t0004g0149 a0001c0002t0003g0007 a0003c0005t0005g0021 a0004c0006t0008g0361 a0017c0022t0004g0125	22	366	0.0601	30	c.616 others(47): Show c.616+9362_616+9391dupTCCTTTCCTTTCCTTTCCTTTCCTTTCC TT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	4/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	116938373	G G	GGAGGAGA others(23): Show GGAGGAGAGGAGAAGAGAGGAGAGGAGAGGA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03017.hp1 HG03239.hp1 others(8): Show HG02602.hp1 HG03017.hp1 HG03239.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04204.hp1 NA20905.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0014 a0002c0004t0006 a0002c0004t0014	a0002c0004t0006g0017 a0002c0004t0006g0151 a0002c0004t0006g0153 others(8): Show a0002c0004t0006g0017 a0002c0004t0006g0151 a0002c0004t0006g0153 a0002c0004t0006g0154 a0002c0004t0006g0156 a0002c0004t0006g0157 a0002c0004t0006g0163 a0002c0004t0006g0165 a0002c0004t0006g0166 a0002c0004t0006g0169 a0002c0004t0014g0168	11	366	0.0301	30	c.455 others(49): Show c.455-10994_455-10993insTCCTCTCCTCTCCTCTCTTCTCCTCT CCTC	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	3/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	116938373	G G	GGAGGAGA others(23): Show GGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02109.hp2 HG02280.hp2 others(10): Show HG01243.hp2 HG02109.hp2 HG02280.hp2 HG02895.hp2 HG02970.hp1 HG03139.hp1 HG03225.hp2 HG03669.hp2 HG04184.hp2 NA18953.hp1 NA19007.hp2 NA19074.hp1 NA19081.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0004c0006 a0007c0027	a0001c0001t0001 a0001c0002t0005 a0002c0003t0007 others(2): Show a0001c0001t0001 a0001c0002t0005 a0002c0003t0007 a0004c0006t0008 a0007c0027t0008	a0001c0001t0001g0330 a0001c0001t0001g0332 a0001c0002t0005g0312 others(10): Show a0001c0001t0001g0330 a0001c0001t0001g0332 a0001c0002t0005g0312 a0001c0002t0005g0339 a0001c0002t0005g0345 a0002c0003t0007g0314 a0002c0003t0007g0319 a0002c0003t0007g0334 a0002c0003t0007g0336 a0004c0006t0008g0344 a0004c0006t0008g0346 a0004c0006t0008g0349 a0007c0027t0008g0340	13	366	0.0355	30	c.455 others(49): Show c.455-10994_455-10993insTCCTCTCCTCTCCTCTCCTCTCCTCT CCTC	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	3/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	116938378	G G	GGAGGAGA others(23): Show GGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03225.hp1 HG02896.hp2 HG03225.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0001c0002 a0003c0005	a0001c0002t0005 a0003c0005t0005 a0001c0002t0005 a0003c0005t0005	a0001c0002t0005g0023 a0003c0005t0005g0351 a0001c0002t0005g0023 a0003c0005t0005g0351	2	366	0.0055	30	c.455 others(49): Show c.455-10999_455-10998insTCCTCTCCTCTCCTCTCCTCTCCTCT CCTC	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	3/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117013903	G G	GGTGTGTG others(23): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03710.hp2 HG03486.hp1 HG03710.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0005 a0002c0004t0014 a0001c0002t0005 a0002c0004t0014	a0001c0002t0005g0027 a0002c0004t0014g0168 a0001c0002t0005g0027 a0002c0004t0014g0168	2	366	0.0055	30	c.274 others(49): Show c.274-56840_274-56839insACACACACACACACACACACACACAC ACAC	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117013904	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18989.hp2 NA18990.hp1 others(1): Show NA18984.hp1 NA18989.hp2 NA18990.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0143 a0001c0001t0004g0145 a0001c0001t0004g0148 others(1): Show a0001c0001t0004g0143 a0001c0001t0004g0145 a0001c0001t0004g0148 a0001c0001t0004g0149	4	366	0.0109	30	c.274 others(49): Show c.274-56841_274-56840insTACACACACACACACACACACACACA CACA	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117013906	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0016 a0016	a0016c0015 a0016c0015	a0016c0015t0002 a0016c0015t0002	a0016c0015t0002g0106 a0016c0015t0002g0106	1	366	0.0027	30	c.274 others(49): Show c.274-56843_274-56842insTATACACACACACACACACACACACA CACA	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117020246	T T	TATATATA others(23): Show TATATATATACATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0013 a0013	a0013c0018 a0013c0018	a0013c0018t0001 a0013c0018t0001	a0013c0018t0001g0016 a0013c0018t0001g0016	1	366	0.0027	30	c.274 others(49): Show c.274-63183_274-63182insGTATATATATATATATATATGTATAT ATAT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117020246	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0141 a0001c0001t0004g0141	1	366	0.0027	30	c.274 others(49): Show c.274-63183_274-63182insGTATATATATATATATATATATATAT ATAT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117023621	A A	AAAAAAAA others(23): Show AAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0292 a0001c0002t0003g0292	1	366	0.0027	30	c.274 others(49): Show c.274-66558_274-66557insATATATATATATATATATATATTTTT TTTT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117023621	A A	AAAATATA others(23): Show AAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0006	a0002c0004t0006g0165 a0002c0004t0006g0165	1	366	0.0027	30	c.274 others(49): Show c.274-66558_274-66557insATATATATATATATATATATATATAT ATTT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIL1_chr5_138941724_139203368	139155448	T T	TGAGAGAG others(23): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01069.hp2 HG01081.hp1 others(4): Show HG00735.hp1 HG01069.hp2 HG01081.hp1 HG02258.hp2 HG03017.hp2 HG03225.hp2 NA20905.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0007 a0001c0001 a0001c0002 a0004c0007	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0004c0007t0001	a0001c0001t0001g0057 a0001c0001t0001g0075 a0001c0001t0001g0076 others(4): Show a0001c0001t0001g0057 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0172 a0001c0001t0005g0199 a0001c0002t0001g0070 a0004c0007t0001g0158	7	200	0.0350	30	c.-10 others(49): Show c.-10-27625_-10-27596dupTCTCTCTCTCTCTCTCTCTCTCTCTC TCTC	SIL1	ENSG00000120725.13	transcript	ENST00000394817.7	protein_coding	1/9			chr5	TogoVar
SIL1_chr5_138941724_139203368	139198321	C C	CCGCGGCG others(23): Show CCGCGGCGGCGACCAGCTCCCCCTGCGCAAA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0199 a0001c0001t0005g0199	1	200	0.0050	30	c.-93 others(37): Show c.-93_-64dupTTTGCGCAGGGGGAGCTGGTCGCCGCCGCG	SIL1	ENSG00000120725.13	transcript	ENST00000394817.7	protein_coding	1/10	70479		chr5	TogoVar
SIPA1L2_chr1_232392965_232635133	232528102	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp1 HG02258.hp1 others(10): Show HG00323.hp1 HG00544.hp1 HG02258.hp1 HG02615.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03490.hp1 NA18522.hp1 NA18960.hp2 NA19002.hp1 NA19011.hp1 NA19030.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0022 a0023	a0001c0003 a0001c0005 a0001c0017 others(5): Show a0001c0003 a0001c0005 a0001c0017 a0002c0006 a0003c0013 a0004c0032 a0022c0052 a0023c0061	a0001c0003t0001 a0001c0005t0001 a0001c0005t0003 others(7): Show a0001c0003t0001 a0001c0005t0001 a0001c0005t0003 a0001c0005t0022 a0001c0017t0002 a0002c0006t0004 a0003c0013t0001 a0004c0032t0001 a0022c0052t0001 a0023c0061t0002	a0001c0003t0001g0083 a0001c0003t0001g0091 a0001c0005t0001g0093 others(10): Show a0001c0003t0001g0083 a0001c0003t0001g0091 a0001c0005t0001g0093 a0001c0005t0001g0212 a0001c0005t0003g0241 a0001c0005t0003g0287 a0001c0005t0022g0288 a0001c0017t0002g0045 a0002c0006t0004g0097 a0003c0013t0001g0130 a0004c0032t0001g0158 a0022c0052t0001g0116 a0023c0061t0002g0063	13	292	0.0445	30	c.-26 others(51): Show c.-269-12495_-269-12494insGATATATATATATATATATATATA TATATA	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	2/22			chr1	TogoVar
SIPA1L3_chr19_37902208_38213369	37937741	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01934.hp1 HG01258.hp1 HG01934.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0013c0038 a0001c0001 a0013c0038	a0001c0001t0017 a0013c0038t0005 a0001c0001t0017 a0013c0038t0005	a0001c0001t0017g0069 a0013c0038t0005g0066 a0001c0001t0017g0069 a0013c0038t0005g0066	2	164	0.0122	30	c.-37 others(51): Show c.-379+30406_-379+30407insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIPA1L3_chr19_37902208_38213369	38030623	A A	AATACATA others(23): Show AATACATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03209.hp2 HG03540.hp2 HG02896.hp2 HG03209.hp2 HG03540.hp2	a0001 a0002 a0016 a0001 a0002 a0016	a0001c0006 a0002c0020 a0016c0022 a0001c0006 a0002c0020 a0016c0022	a0001c0006t0009 a0002c0020t0001 a0016c0022t0001 a0001c0006t0009 a0002c0020t0001 a0016c0022t0001	a0001c0006t0009g0141 a0002c0020t0001g0133 a0016c0022t0001g0030 a0001c0006t0009g0141 a0002c0020t0001g0133 a0016c0022t0001g0030	3	164	0.0183	30	c.-31 others(49): Show c.-311+1470_-311+1471insCATATATATATATATATATATATATA TATA	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIRPB1_chr20_1556385_1625009	1559135	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0006 a0004c0004t0005g0006	1	364	0.0028	30	c.63 others(41): Show c.6364_*6365insTATATATATATATATATATATATATATATA	SIRPB1	ENSG00000101307.16	transcript	ENST00000381605.9	protein_coding		2249		chr20	TogoVar
SIRPD_chr20_1529251_1562705	1559135	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0009 a0001c0004t0001g0009	1	390	0.0026	30	c.-14 others(41): Show c.-1483_-1482insTATATATATATATATATATATATATATATA	SIRPD	ENSG00000125900.13	transcript	ENST00000381623.4	protein_coding		1431		chr20	TogoVar
SIRPD_chr20_1529251_1562705	1562158	G G	GGGGGGGG others(23): Show GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	1	390	0.0026	30	c.-45 others(41): Show c.-4506_-4505insACCCCCCCCCCCCCCCCCCCCCCCCCCCCC	SIRPD	ENSG00000125900.13	transcript	ENST00000381623.4	protein_coding		4454		chr20	TogoVar
SIRPG_chr20_1624152_1662779	1650002	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG03098.hp2 NA18970.hp1 others(2): Show HG02155.hp1 HG03098.hp2 NA18970.hp1 NA19089.hp1 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0018 a0002c0002 a0001c0001 a0001c0018 a0002c0002	a0001c0001t0002 a0001c0018t0001 a0002c0002t0001 others(2): Show a0001c0001t0002 a0001c0018t0001 a0002c0002t0001 a0002c0002t0009 a0002c0002t0013	a0001c0001t0002g0164 a0001c0018t0001g0117 a0002c0002t0001g0115 others(2): Show a0001c0001t0002g0164 a0001c0018t0001g0117 a0002c0002t0001g0115 a0002c0002t0009g0116 a0002c0002t0013g0070	5	396	0.0126	30	c.74- others(43): Show c.74-595_74-594insTATATATATATATATATATATATATATATA	SIRPG	ENSG00000089012.14	transcript	ENST00000303415.7	protein_coding	1/5			chr20	TogoVar
SIRPG_chr20_1624152_1662779	1650002	G G	GTATGTAT others(23): Show GTATGTATGTATGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0092 a0002c0002t0003g0092	1	396	0.0025	30	c.74- others(43): Show c.74-595_74-594insTATATATATATATATATACATACATACATA	SIRPG	ENSG00000089012.14	transcript	ENST00000303415.7	protein_coding	1/5			chr20	TogoVar
SIRPG_chr20_1624152_1662779	1650004	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0003 a0003	a0003c0036 a0003c0036	a0003c0036t0004 a0003c0036t0004	a0003c0036t0004g0067 a0003c0036t0004g0067	1	396	0.0025	30	c.74- others(43): Show c.74-597_74-596insTATATATATATATATATATATATATATATA	SIRPG	ENSG00000089012.14	transcript	ENST00000303415.7	protein_coding	1/5			chr20	TogoVar
SIRT5_chr6_13569601_13620158	13574141	C C	CCCCCCAC others(23): Show CCCCCCACCCCCACCCCCACCCCCACCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01123.hp1 NA18906.hp2 HG01071.hp2 HG01123.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0052 a0001c0001t0004 a0001c0001t0005 a0001c0001t0052	a0001c0001t0004g0004 a0001c0001t0005g0094 a0001c0001t0052g0081 a0001c0001t0004g0004 a0001c0001t0005g0094 a0001c0001t0052g0081	3	394	0.0076	30	c.-79 others(39): Show c.-798_-797insCCCCCACCCCCACCCCCACCCCCACCCCCA	SIRT5	ENSG00000124523.17	transcript	ENST00000606117.2	protein_coding		459		chr6	TogoVar
SIT1_chr9_35644295_35655931	35647667	T T	TGAGAGAG others(23): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	434	0.0023	30	c.21 others(41): Show c.2180_*2181insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	SIT1	ENSG00000137078.10	transcript	ENST00000259608.8	protein_coding		1627		chr9	TogoVar
SI_chr3_164973898_165083496	165029581	C C	CATATATA others(23): Show CATATATATGTATATATATACATATATATGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(65): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00438.hp1 HG00558.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00741.hp1 HG01074.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01256.hp1 HG01257.hp2 HG01515.hp2 HG01981.hp1 HG02015.hp1 HG02056.hp1 HG02083.hp1 HG02135.hp1 HG02155.hp1 HG02280.hp2 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02698.hp2 HG02896.hp1 HG03017.hp1 HG03239.hp1 HG03540.hp1 HG03710.hp2 NA18747.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18955.hp2 NA18957.hp1 NA18962.hp1 NA18965.hp1 NA18969.hp2 NA18971.hp1 NA18975.hp2 NA18978.hp1 NA18980.hp2 NA18982.hp2 NA18989.hp2 NA18990.hp1 NA18991.hp2 NA18992.hp2 NA18994.hp1 NA18995.hp2 NA18997.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19062.hp2 NA19065.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19083.hp2 NA19086.hp2 NA19090.hp1 NA20300.hp1	a0001 a0002 a0019 a0001 a0002 a0019	a0001c0001 a0001c0010 a0001c0021 others(2): Show a0001c0001 a0001c0010 a0001c0021 a0002c0013 a0019c0022	a0001c0001t0001 a0001c0010t0001 a0001c0021t0001 others(2): Show a0001c0001t0001 a0001c0010t0001 a0001c0021t0001 a0002c0013t0001 a0019c0022t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(65): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0010t0001g0057 a0001c0010t0001g0098 a0001c0010t0001g0103 a0001c0021t0001g0102 a0002c0013t0001g0214 a0002c0013t0001g0215 a0019c0022t0001g0009	68	266	0.2556	30	c.289 others(49): Show c.2892+1101_2892+1130dupACATATATATGTATATATATACATAT ATAT	SI	ENSG00000090402.8	transcript	ENST00000264382.8	protein_coding	25/47			chr3	TogoVar
SI_chr3_164973898_165083496	165065464	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp1 HG01069.hp2 others(13): Show HG00099.hp2 HG00558.hp1 HG01069.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp2 HG01257.hp2 HG01981.hp1 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02630.hp2 HG02698.hp2 NA18944.hp2 NA18957.hp1 NA20300.hp1	a0001 a0018 a0001 a0018	a0001c0001 a0018c0024 a0001c0001 a0018c0024	a0001c0001t0001 a0018c0024t0003 a0001c0001t0001 a0018c0024t0003	a0001c0001t0001g0010 a0001c0001t0001g0026 a0001c0001t0001g0038 others(13): Show a0001c0001t0001g0010 a0001c0001t0001g0026 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0116 a0001c0001t0001g0117 a0018c0024t0003g0049	16	266	0.0602	30	c.636 others(43): Show c.636-62_636-33dupATATATATATATATATATATATATATATAT	SI	ENSG00000090402.8	transcript	ENST00000264382.8	protein_coding	6/47			chr3	TogoVar
SKAP1_chr17_48128442_48435214	48204973	T T	TTTTCTTT others(23): Show TTTTCTTTTCTTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	292	0.0034	30	c.281 others(49): Show c.281-15474_281-15473insGAAAGAAAGAAAGAAAGAAAAGAAAA GAAA	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	4/12			chr17	TogoVar
SKAP1_chr17_48128442_48435214	48214930	G G	GTAAAATA others(23): Show GTAAAATAAAATAAAATAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01106.hp1 HG02109.hp2 others(21): Show HG00558.hp1 HG01106.hp1 HG02109.hp2 HG02273.hp1 HG02647.hp1 HG02965.hp2 HG02976.hp1 NA18612.hp1 NA18939.hp2 NA18942.hp1 NA18945.hp2 NA18947.hp2 NA18950.hp2 NA18952.hp1 NA18959.hp1 NA18966.hp2 NA18982.hp1 NA18989.hp2 NA18994.hp1 NA18994.hp2 NA18999.hp1 NA18999.hp2 NA19068.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0055 others(21): Show a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0084 a0001c0001t0001g0108 a0001c0001t0001g0143 a0001c0001t0001g0161 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0256 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263	24	292	0.0822	30	c.281 others(49): Show c.281-25460_281-25431dupTTTTATTTTATTTTATTTTATTTTAT TTTA	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	4/12			chr17	TogoVar
SKAP1_chr17_48128442_48435214	48367561	C C	CATATATA others(23): Show CATATATATATATATATGGATATATATCCAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0248 a0002c0002t0001g0248	1	292	0.0034	30	c.153 others(47): Show c.153-3748_153-3747insATGGATATATATCCATATATATATATAT AT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	2/12			chr17	TogoVar
SKOR2_chr18_47201169_47256660	47245478	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA19240.hp2 HG03579.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0264 a0001c0001t0002g0265	2	344	0.0058	30	c.267 others(45): Show c.2677+19_2677+20insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SKOR2	ENSG00000215474.8	transcript	ENST00000425639.3	protein_coding	3/8			chr18	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG02074.hp1 NA18956.hp1 others(1): Show HG00099.hp1 HG02074.hp1 NA18956.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0100 a0001c0001t0001g0136 others(1): Show a0001c0001t0001g0050 a0001c0001t0001g0100 a0001c0001t0001g0136 a0001c0001t0001g0164	4	360	0.0111	30	c.46 others(41): Show c.4680_*4709dupGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACATACA others(23): Show TACATACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG03654.hp1 HG02486.hp1 HG03654.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0018 a0003c0003t0001 a0001c0001t0018 a0003c0003t0001	a0001c0001t0018g0356 a0003c0003t0001g0057 a0001c0001t0018g0356 a0003c0003t0001g0057	2	360	0.0056	30	c.47 others(41): Show c.4709_*4710insGTGTGTGTGTGTGTGTGTGTGTGTGTATGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACATACA others(23): Show TACATACATACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG01169.hp1 HG03041.hp2 HG00323.hp1 HG01169.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0203 a0001c0001t0001g0240 a0001c0001t0002g0314 a0001c0001t0001g0203 a0001c0001t0001g0240 a0001c0001t0002g0314	3	360	0.0083	30	c.47 others(41): Show c.4709_*4710insGTGTGTGTGTGTGTGTGTGTGTATGTATGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACATACA others(23): Show TACATACATACATACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18963.hp1 NA18522.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0266 a0001c0001t0001g0026 a0001c0001t0001g0266	2	360	0.0056	30	c.47 others(41): Show c.4709_*4710insGTGTGTGTGTGTGTGTGTATGTATGTATGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACATACA others(23): Show TACATACATACATATACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01975.hp2 HG02027.hp1 others(11): Show HG01358.hp1 HG01975.hp2 HG02027.hp1 HG02071.hp1 HG02148.hp1 HG02273.hp1 HG02717.hp1 HG03669.hp1 NA18522.hp2 NA18956.hp2 NA18957.hp2 NA18987.hp2 NA19009.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0017 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0017 a0001c0001t0019	a0001c0001t0001g0080 a0001c0001t0001g0088 a0001c0001t0001g0146 others(11): Show a0001c0001t0001g0080 a0001c0001t0001g0088 a0001c0001t0001g0146 a0001c0001t0001g0183 a0001c0001t0001g0198 a0001c0001t0001g0218 a0001c0001t0001g0258 a0001c0001t0001g0284 a0001c0001t0001g0290 a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0003g0006 a0001c0001t0017g0355 a0001c0001t0019g0357	14	360	0.0389	30	c.47 others(41): Show c.4709_*4710insGTGTGTGTGTGTGTGTATATGTATGTATGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609256	C C	CACACACA others(23): Show CACACACACACACACACACACACACACACTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	360	0.0028	30	c.46 others(41): Show c.4609_*4610insTAGTGTGTGTGTGTGTGTGTGTGTGTGTGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3061		chr20	TogoVar
SLAMF6_chr1_160480036_160528255	160484243	A A	ATATATAT others(23): Show ATATATATATATATATATATATTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0199 a0001c0001t0007g0199	1	394	0.0025	30	c.24 others(41): Show c.2463_*2464insAAAAAAAAAATATATATATATATATATATA	SLAMF6	ENSG00000162739.14	transcript	ENST00000368057.8	protein_coding		792		chr1	TogoVar
SLC10A6_chr4_86818468_86854384	86837286	A A	AGAAAGAA others(23): Show AGAAAGAAAGAAAGAAAGAAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0272 a0003c0005t0001g0272	1	350	0.0029	30	c.378 others(47): Show c.378-3863_378-3862insCCTTCCTTCCTTTCTTTCTTTCTTTCTT TC	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar
SLC10A6_chr4_86818468_86854384	86837286	A A	AGAAAGAA others(23): Show AGAAAGAAAGAAAGAGAGAGAAAAAGAAAGG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0284 a0001c0001t0002g0284	1	350	0.0029	30	c.378 others(47): Show c.378-3863_378-3862insCCTTTCTTTTTCTCTCTCTTTCTTTCTT TC	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar
SLC12A2_chr5_128078766_128194677	128126966	A A	ATATATAT others(23): Show ATATATATATATATATATATATATAATTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01943.hp2 NA20805.hp2 HG01891.hp1 HG01943.hp2 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0136 a0001c0002t0001g0143 a0001c0002t0001g0151 a0001c0002t0001g0136 a0001c0002t0001g0143 a0001c0002t0001g0151	3	354	0.0085	30	c.104 others(49): Show c.1049-4100_1049-4099insATATATATATATATATATATATAATT TTTT	SLC12A2	ENSG00000064651.14	transcript	ENST00000262461.7	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr5	TogoVar

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