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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⚠️ 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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SHQ1_chr3_72744277_72853445	72833483	TAGATAGA others(17): Show TAGATAGATAGATAGATAGACAGAC	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 NA18957.hp1 NA18957.hp2 HG01433.hp2 NA18957.hp1 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0088 a0001c0001t0001g0159 a0001c0001t0001g0160	3	222	0.0135	-24	c.487 others(41): Show c.487-1026_487-1003delGTCTGTCTATCTATCTATCTATCT		SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding	4/10						chr3	TogoVar
SHQ1_chr3_72744277_72853445	72852096	CTCTCTCT others(17): Show CTCTCTCTCTCTATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG03486.hp2 HG02818.hp2 HG03486.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0009 a0001c0001 a0007c0009	a0001c0001t0001 a0007c0009t0002 a0001c0001t0001 a0007c0009t0002	a0001c0001t0001g0105 a0007c0009t0002g0220 a0001c0001t0001g0105 a0007c0009t0002g0220	2	222	0.0090	-24	c.-37 others(35): Show c.-3780_-3757delTATATATATATATAGAGAGAGAGA		SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding					3652		chr3	TogoVar
SHQ1_chr3_72744277_72853445	72852098	CTCTCTCT others(17): Show CTCTCTCTCTATATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0002 a0007c0009t0002	a0007c0009t0002g0221 a0007c0009t0002g0221	1	222	0.0045	-24	c.-37 others(35): Show c.-3782_-3759delTATATATATATATATAGAGAGAGA		SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding					3654		chr3	TogoVar
SHQ1_chr3_72744277_72853445	72852106	CTATATAT others(17): Show CTATATATATATATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	222	0.0045	-24	c.-37 others(35): Show c.-3790_-3767delTATATATATATATATATATATATA		SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding					3662		chr3	TogoVar
SHROOM3_chr4_76430229_76788253	76735854	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0002 a0009c0011t0002	a0009c0011t0002g0045 a0009c0011t0002g0045	1	218	0.0046	-24	c.588 others(41): Show c.588-2905_588-2882delAAAAAAAAAAAAAATATATATATA		SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76735858	AAAAAAAA others(17): Show AAAAAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02615.hp2 HG02717.hp2 others(2): Show HG01891.hp2 HG02615.hp2 HG02717.hp2 HG03225.hp1 NA19030.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0001 a0008c0007t0007 a0008c0007t0001 a0008c0007t0007	a0008c0007t0001g0054 a0008c0007t0001g0056 a0008c0007t0001g0094 others(2): Show a0008c0007t0001g0054 a0008c0007t0001g0056 a0008c0007t0001g0094 a0008c0007t0001g0127 a0008c0007t0007g0137	5	218	0.0229	-24	c.588 others(41): Show c.588-2901_588-2878delAAAAAAAAAATATATATATATATA		SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76746781	CATTATTA others(17): Show CATTATTATTATTATTATTATTATT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03130.hp1 HG03516.hp2 HG02572.hp2 HG03130.hp1 HG03516.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0009 a0004c0004t0001 a0004c0004t0009	a0004c0004t0001g0029 a0004c0004t0001g0101 a0004c0004t0009g0102 a0004c0004t0001g0029 a0004c0004t0001g0101 a0004c0004t0009g0102	3	218	0.0138	-24	c.375 others(43): Show c.3754-2208_3754-2185delATTATTATTATTATTATTATTATT		SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	5/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76783062	ATTTCAGC others(17): Show ATTTCAGCAGGTTTCCCATGTTATT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02615.hp1 HG03098.hp1 HG03139.hp2 others(3): Show HG02615.hp1 HG03098.hp1 HG03139.hp2 HG03225.hp2 HG03486.hp1 NA18906.hp2	a0011 a0017 a0024 a0011 a0017 a0024	a0011c0012 a0017c0025 a0017c0046 others(1): Show a0011c0012 a0017c0025 a0017c0046 a0024c0024	a0011c0012t0006 a0017c0025t0006 a0017c0046t0006 others(1): Show a0011c0012t0006 a0017c0025t0006 a0017c0046t0006 a0024c0024t0035	a0011c0012t0006g0043 a0011c0012t0006g0046 a0011c0012t0006g0083 others(3): Show a0011c0012t0006g0043 a0011c0012t0006g0046 a0011c0012t0006g0083 a0017c0025t0006g0095 a0017c0046t0006g0157 a0024c0024t0035g0183	6	218	0.0275	-24	c.38 others(35): Show c.3886_*3909delTTTCAGCAGGTTTCCCATGTTATT		SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	11/11				3886		chr4	TogoVar
SHROOM4_chrX_50581796_50819194	50618277	CCCCTTCC others(17): Show CCCCTTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02486.hp1 HG02922.hp2 others(2): Show HG01884.hp1 HG02486.hp1 HG02922.hp2 HG03209.hp1 HG03540.hp2	a0003 a0006 a0003 a0006	a0003c0004 a0006c0006 a0003c0004 a0006c0006	a0003c0004t0001 a0003c0004t0005 a0006c0006t0005 a0003c0004t0001 a0003c0004t0005 a0006c0006t0005	a0003c0004t0001g0084 a0003c0004t0005g0125 a0006c0006t0005g0039 others(2): Show a0003c0004t0001g0084 a0003c0004t0005g0125 a0006c0006t0005g0039 a0006c0006t0005g0140 a0006c0006t0005g0141	5	175	0.0286	-24	c.295 others(43): Show c.2957+9313_2957+9336delAGGAAGGAAGGAAGGAAGGAAGGG		SHROOM4	ENSG00000158352.18	transcript	ENST00000376020.9	protein_coding	5/8						chrX	TogoVar
SHTN1_chr10_116876477_117010187	116946485	TTTTATAT others(17): Show TTTTATATATAAATATATAAAATGA	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp1 HG00639.hp1 others(109): Show HG00544.hp2 HG00597.hp1 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01891.hp2 HG01943.hp2 HG01952.hp1 HG01981.hp1 HG02040.hp1 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02280.hp1 HG02523.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03688.hp1 HG03710.hp2 HG03927.hp2 HG03942.hp2 HG06807.hp1 NA18612.hp1 NA18747.hp2 NA18940.hp2 NA18941.hp2 NA18948.hp1 NA18951.hp2 NA18952.hp2 NA18956.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18965.hp2 NA18973.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18984.hp1 NA18986.hp2 NA18987.hp2 NA18989.hp2 NA18991.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA19001.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19043.hp1 NA19054.hp1 NA19066.hp1 NA19068.hp1 NA19074.hp2 NA19078.hp1 NA19081.hp2 NA19085.hp1 NA19087.hp2 NA20129.hp1 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0027 a0001c0001t0033 a0001c0001t0037 a0001c0001t0038 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0066 a0001c0001t0067 a0001c0001t0069 a0001c0001t0070 a0001c0003t0001	a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0033 others(109): Show a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0230 a0001c0001t0002g0181 a0001c0001t0002g0257 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0004g0132 a0001c0001t0004g0133 a0001c0001t0004g0134 a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0006g0031 a0001c0001t0006g0038 a0001c0001t0006g0044 a0001c0001t0006g0048 a0001c0001t0006g0062 a0001c0001t0006g0073 a0001c0001t0006g0084 a0001c0001t0006g0085 a0001c0001t0010g0059 a0001c0001t0010g0077 a0001c0001t0010g0079 a0001c0001t0010g0080 a0001c0001t0010g0081 a0001c0001t0010g0082 a0001c0001t0011g0023 a0001c0001t0011g0025 a0001c0001t0011g0045 a0001c0001t0011g0063 a0001c0001t0011g0064 a0001c0001t0011g0124 a0001c0001t0014g0088 a0001c0001t0014g0089 a0001c0001t0014g0090 a0001c0001t0014g0129 a0001c0001t0015g0139 a0001c0001t0018g0115 a0001c0001t0018g0117 a0001c0001t0018g0119 a0001c0001t0018g0125 a0001c0001t0020g0039 a0001c0001t0020g0040 a0001c0001t0020g0042 a0001c0001t0021g0050 a0001c0001t0021g0065 a0001c0001t0021g0066 a0001c0001t0027g0034 a0001c0001t0027g0035 a0001c0001t0033g0055 a0001c0001t0033g0056 a0001c0001t0037g0087 a0001c0001t0038g0130 a0001c0001t0053g0102 a0001c0001t0054g0110 a0001c0001t0055g0086 a0001c0001t0056g0046 a0001c0001t0057g0026 a0001c0001t0062g0159 a0001c0001t0063g0049 a0001c0001t0064g0024 a0001c0001t0066g0053 a0001c0001t0067g0032 a0001c0001t0069g0041 a0001c0001t0070g0068 a0001c0003t0001g0097	112	292	0.3836	-24	c.617 others(41): Show c.617-1491_617-1468delTCATTTTATATATTTATATATAAA		SHTN1	ENSG00000187164.20	transcript	ENST00000355371.9	protein_coding	7/16						chr10	TogoVar
SHTN1_chr10_116876477_117010187	116963035	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp1 HG02559.hp1 others(4): Show HG02258.hp1 HG02451.hp1 HG02559.hp1 HG03130.hp1 HG03486.hp1 NA18993.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0019 a0001c0001t0046 a0001c0001t0009 a0001c0001t0019 a0001c0001t0046	a0001c0001t0009g0009 a0001c0001t0009g0020 a0001c0001t0009g0021 others(4): Show a0001c0001t0009g0009 a0001c0001t0009g0020 a0001c0001t0009g0021 a0001c0001t0019g0012 a0001c0001t0019g0013 a0001c0001t0019g0014 a0001c0001t0046g0220	7	292	0.0240	-24	c.173 others(41): Show c.173-2829_173-2806delAAAAAAAAAAAAAAAAAAAAAAAA		SHTN1	ENSG00000187164.20	transcript	ENST00000355371.9	protein_coding	3/16						chr10	TogoVar
SHTN1_chr10_116876477_117010187	116983667	GATAGATA others(17): Show GATAGATAGATAGATAGATAAATAC	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG00639.hp2 others(35): Show HG00408.hp1 HG00544.hp2 HG00639.hp2 HG00738.hp2 HG01099.hp2 HG01123.hp2 HG01168.hp1 HG01496.hp2 HG01943.hp2 HG02040.hp1 HG02055.hp1 HG03492.hp1 HG03927.hp2 HG04228.hp1 NA18941.hp2 NA18948.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18973.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18984.hp1 NA18986.hp2 NA18987.hp2 NA18991.hp1 NA18993.hp1 NA18994.hp2 NA18997.hp1 NA18998.hp2 NA19011.hp2 NA19054.hp1 NA19074.hp2 NA19078.hp1 NA19080.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 others(8): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0018 a0001c0001t0053 a0001c0001t0054 a0001c0001t0056 a0001c0001t0057 a0001c0001t0061 a0001c0003t0001	a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 others(35): Show a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0006g0038 a0001c0001t0010g0079 a0001c0001t0010g0080 a0001c0001t0010g0081 a0001c0001t0010g0082 a0001c0001t0011g0045 a0001c0001t0011g0124 a0001c0001t0018g0115 a0001c0001t0018g0117 a0001c0001t0018g0119 a0001c0001t0018g0125 a0001c0001t0053g0102 a0001c0001t0054g0110 a0001c0001t0056g0046 a0001c0001t0057g0026 a0001c0001t0061g0104 a0001c0003t0001g0097	38	292	0.1301	-24	c.59- others(39): Show c.59-4383_59-4360delGTATTTATCTATCTATCTATCTAT		SHTN1	ENSG00000187164.20	transcript	ENST00000355371.9	protein_coding	1/16						chr10	TogoVar
SIAH3_chr13_45772242_45856753	45831179	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0028 a0001c0001t0003g0028	1	364	0.0028	-24	c.135 others(43): Show c.135+20292_135+20315delATTTATTTATTTATTTATTTATTT		SIAH3	ENSG00000215475.5	transcript	ENST00000400405.4	protein_coding	1/1						chr13	TogoVar
SIDT1_chr3_113527555_113634575	113630067	AGTGTCTA others(17): Show AGTGTCTATGCTAACTCTTGCCTGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0134 a0001c0002t0001g0134	1	318	0.0031	-24	c.23 others(35): Show c.2360_*2383delGTGTCTATGCTAACTCTTGCCTGG		SIDT1	ENSG00000072858.11	transcript	ENST00000264852.9	protein_coding					493		chr3	TogoVar
SIGIRR_chr11_400716_419999	402113	CCCCCGGC others(17): Show CCCCCGGCCCCGCTCACCCCCGGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	242	0.0041	-24	c.37 others(35): Show c.3759_*3782delAGCCGGGGGTGAGCGGGGCCGGGG		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding					3602		chr11	TogoVar
SIGIRR_chr11_400716_419999	402366	GGCTCCAC others(17): Show GGCTCCACTGACCCCGGCCCCGCTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	242	0.0041	-24	c.35 others(35): Show c.3506_*3529delGAGCGGGGCCGGGGTCAGTGGAGC		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding					3349		chr11	TogoVar
SIGIRR_chr11_400716_419999	402551	CGACCCCC others(17): Show CGACCCCCGGCCCCGCTCACCCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0226 a0001c0006t0001g0226	1	242	0.0041	-24	c.33 others(35): Show c.3321_*3344delCGGGGGTGAGCGGGGCCGGGGGTC		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding					3164		chr11	TogoVar
SIGLEC12_chr19_51486227_51506800	51495389	ATGGATGG others(17): Show ATGGATGGATGGGTGGGTGGGTGGG	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0003 a0003	a0003c0051 a0003c0051	a0003c0051t0003 a0003c0051t0003	a0003c0051t0003g0161 a0003c0051t0003g0161	1	432	0.0023	-24	c.159 others(43): Show c.1599+1467_1599+1490delCCCACCCACCCACCCATCCATCCA		SIGLEC12	ENSG00000254521.7	transcript	ENST00000291707.8	protein_coding	7/7						chr19	TogoVar
SIGLEC1_chr20_3681970_3717600	3713653	GGTTTTTG others(17): Show GGTTTTTGTTTGTTTGTTTGTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02559.hp1 HG02647.hp2 others(5): Show HG01884.hp2 HG02559.hp1 HG02647.hp2 HG02970.hp2 HG03041.hp1 HG03130.hp1 HG03516.hp1 NA20129.hp2	a0001 a0008 a0009 a0001 a0008 a0009	a0001c0026 a0008c0013 a0009c0023 a0001c0026 a0008c0013 a0009c0023	a0001c0026t0016 a0008c0013t0007 a0008c0013t0025 others(1): Show a0001c0026t0016 a0008c0013t0007 a0008c0013t0025 a0009c0023t0003	a0001c0026t0016g0329 a0008c0013t0007g0045 a0008c0013t0007g0324 others(4): Show a0001c0026t0016g0329 a0008c0013t0007g0045 a0008c0013t0007g0324 a0008c0013t0007g0325 a0008c0013t0007g0327 a0008c0013t0025g0328 a0009c0023t0003g0326	8	428	0.0187	-24	c.-13 others(35): Show c.-1317_-1294delAAAAACAAACAAACAAACAAAAAC		SIGLEC1	ENSG00000088827.14	transcript	ENST00000344754.6	protein_coding					1054		chr20	TogoVar
SIK3_chr11_116838402_117103428	116947523	ATATATAT others(17): Show ATATATATATATGTATGTATGTATG	A A	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0006	a0002c0004t0006g0151 a0002c0004t0006g0151	1	366	0.0027	-24	c.454 others(41): Show c.454+6497_454+6520delCATACATACATACATATATATATA		SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	3/24						chr11	TogoVar
SIK3_chr11_116838402_117103428	116965734	AATATATA others(17): Show AATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp1 others(85): Show HG00099.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00642.hp1 HG00733.hp1 HG00738.hp1 HG01069.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01346.hp1 HG01433.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01934.hp1 HG01943.hp2 HG01981.hp1 HG01993.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02109.hp1 HG02129.hp2 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02486.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp1 HG03017.hp2 HG03041.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03688.hp1 HG03710.hp1 HG03834.hp2 HG03927.hp1 HG04204.hp2 NA18522.hp1 NA18747.hp2 NA18943.hp2 NA18946.hp2 NA18957.hp1 NA18962.hp1 NA18965.hp2 NA18966.hp2 NA18971.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp2 NA18981.hp1 NA18983.hp2 NA19007.hp1 NA19010.hp1 NA19060.hp1 NA19066.hp1 NA19068.hp2 NA19070.hp1 NA19081.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0015 a0001 a0005 a0015	a0001c0001 a0001c0002 a0001c0026 others(2): Show a0001c0001 a0001c0002 a0001c0026 a0005c0007 a0015c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0023 a0001c0001t0030 a0001c0002t0003 a0001c0002t0005 a0001c0026t0003 a0005c0007t0010 a0015c0020t0002	a0001c0001t0001g0039 a0001c0001t0002g0029 a0001c0001t0002g0037 others(85): Show a0001c0001t0001g0039 a0001c0001t0002g0029 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0170 a0001c0001t0002g0357 a0001c0001t0002g0362 a0001c0001t0002g0363 a0001c0001t0012g0076 a0001c0001t0012g0082 a0001c0001t0023g0093 a0001c0001t0030g0103 a0001c0002t0003g0005 a0001c0002t0003g0006 a0001c0002t0003g0024 a0001c0002t0003g0172 a0001c0002t0003g0174 a0001c0002t0003g0175 a0001c0002t0003g0176 a0001c0002t0003g0177 a0001c0002t0003g0265 a0001c0002t0003g0266 a0001c0002t0003g0267 a0001c0002t0005g0012 a0001c0002t0005g0030 a0001c0002t0005g0052 a0001c0002t0005g0053 a0001c0026t0003g0173 a0005c0007t0010g0015 a0005c0007t0010g0038 a0005c0007t0010g0054 a0005c0007t0010g0060 a0015c0020t0002g0013	88	366	0.2404	-24	c.274 others(41): Show c.274-8694_274-8671delATATATATATATATATATATATAT		SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24						chr11	TogoVar
SIK3_chr11_116838402_117103428	117056536	GATAGATA others(17): Show GATAGATATAGATATAGATATAGAT	G G	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01943.hp2 HG01981.hp1 others(5): Show HG01099.hp1 HG01943.hp2 HG01981.hp1 HG02083.hp2 HG02717.hp2 HG03516.hp1 NA18953.hp2 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0203 a0001c0001t0001g0263 a0001c0001t0002g0029 others(5): Show a0001c0001t0001g0203 a0001c0001t0001g0263 a0001c0001t0002g0029 a0001c0001t0002g0058 a0001c0001t0002g0101 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0004g0134	8	366	0.0219	-24	c.273 others(43): Show c.273+41583_273+41606delATCTATATCTATATCTATATCTAT		SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24						chr11	TogoVar
SIKE1_chr1_114764479_114785685	114785490	TTAATTTT others(17): Show TTAATTTTTGTTTAAGGCATAAGGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	358	0.0028	-24	c.-49 others(35): Show c.-4907_-4884delTCCTTATGCCTTAAACAAAAATTA		SIKE1	ENSG00000052723.12	transcript	ENST00000060969.6	protein_coding					4806		chr1	TogoVar
SIL1_chr5_138941724_139203368	139145619	GGTGTGGG others(17): Show GGTGTGGGGGCGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01361.hp2 HG01070.hp1 HG01071.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0066 a0001c0001t0001g0082 a0001c0001t0001g0083	3	200	0.0150	-24	c.-10 others(43): Show c.-10-17790_-10-17767delACACACACACACACGCCCCCACAC		SIL1	ENSG00000120725.13	transcript	ENST00000394817.7	protein_coding	1/9						chr5	TogoVar
SIL1_chr5_138941724_139203368	139145629	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01891.hp1 HG01993.hp1 others(14): Show HG01109.hp2 HG01891.hp1 HG01993.hp1 HG02055.hp2 HG02145.hp2 HG02451.hp1 HG02559.hp2 HG02630.hp1 HG02723.hp1 HG03041.hp1 HG03098.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 NA19043.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0004c0007	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0004c0007t0001	a0001c0001t0001g0030 a0001c0001t0001g0086 a0001c0001t0001g0088 others(14): Show a0001c0001t0001g0030 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0133 a0001c0001t0001g0166 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0028 a0001c0002t0001g0104 a0001c0002t0001g0185 a0002c0003t0001g0134 a0002c0003t0001g0160 a0004c0007t0001g0158 a0004c0007t0001g0195	17	200	0.0850	-24	c.-10 others(43): Show c.-10-17800_-10-17777delACACACACACACACACACACACAC		SIL1	ENSG00000120725.13	transcript	ENST00000394817.7	protein_coding	1/9						chr5	TogoVar
SIM1_chr6_100380009_100469921	100412596	AAAGAAAG others(17): Show AAAGAAAGAAAGAAAGGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 NA18953.hp1 others(1): Show HG00280.hp2 HG00323.hp2 NA18953.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0062 a0001c0001t0064 a0001c0001t0013 a0001c0001t0062 a0001c0001t0064	a0001c0001t0013g0127 a0001c0001t0013g0142 a0001c0001t0062g0109 others(1): Show a0001c0001t0013g0127 a0001c0001t0013g0142 a0001c0001t0062g0109 a0001c0001t0064g0090	4	320	0.0125	-24	c.116 others(43): Show c.1167+8170_1167+8193delCTTTCTTTCCTTTCTTTCTTTCTT		SIM1	ENSG00000112246.10	transcript	ENST00000369208.8	protein_coding	10/11						chr6	TogoVar
SIM1_chr6_100380009_100469921	100412683	AAAAGAAA others(17): Show AAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0023 a0004c0008t0023	a0004c0008t0023g0223 a0004c0008t0023g0223	1	320	0.0031	-24	c.116 others(43): Show c.1167+8083_1167+8106delCTTTCTTTCTTTCTTTCTTTCTTT		SIM1	ENSG00000112246.10	transcript	ENST00000369208.8	protein_coding	10/11						chr6	TogoVar
SIM1_chr6_100380009_100469921	100458006	TTCTCTCT others(17): Show TTCTCTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02615.hp1 HG02572.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0039 a0001c0001t0010 a0001c0001t0039	a0001c0001t0010g0163 a0001c0001t0039g0012 a0001c0001t0010g0163 a0001c0001t0039g0012	2	320	0.0063	-24	c.176 others(41): Show c.176-4186_176-4163delGAGAGAGAGAGAGAGAGAGAGAGA		SIM1	ENSG00000112246.10	transcript	ENST00000369208.8	protein_coding	2/11						chr6	TogoVar
SIM2_chr21_36694115_36754917	36731317	GCTGCCTG others(17): Show GCTGCCTGTTGTCGGTTCTCAAGCA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01884.hp1 HG03579.hp1 HG00735.hp1 HG01884.hp1 HG03579.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0014 a0003c0005 a0001c0001 a0001c0014 a0003c0005	a0001c0001t0037 a0001c0014t0002 a0003c0005t0012 a0001c0001t0037 a0001c0014t0002 a0003c0005t0012	a0001c0001t0037g0354 a0001c0014t0002g0378 a0003c0005t0012g0394 a0001c0001t0037g0354 a0001c0014t0002g0378 a0003c0005t0012g0394	3	410	0.0073	-24	c.850 others(39): Show c.850+167_850+190delCTGCCTGTTGTCGGTTCTCAAGCA		SIM2	ENSG00000159263.16	transcript	ENST00000290399.11	protein_coding	7/10						chr21	TogoVar
SIM2_chr21_36694115_36754917	36740009	GAGAAAGA others(17): Show GAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0335 a0001c0001t0007g0335	1	410	0.0024	-24	c.851 others(41): Show c.851-1680_851-1657delAAGAAAGAAAGAAAGAAAGAAAGA		SIM2	ENSG00000159263.16	transcript	ENST00000290399.11	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr21	TogoVar
SIMC1_chr5_176233424_176350989	176246407	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0339 a0002c0002t0002g0339	1	360	0.0028	-24	c.129 others(41): Show c.129+7789_129+7812delGTGTGTGTGTGTGTGTGTGTGTGT		SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176305630	GCGCCTCT others(17): Show GCGCCTCTGCCCGGCTGCCCCTACT	G G	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0354 a0003c0004t0001g0354	1	360	0.0028	-24	c.173 others(43): Show c.1735-8060_1735-8037delCGCCTCTGCCCGGCTGCCCCTACT		SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9						chr5	TogoVar
SIMC1_chr5_176233424_176350989	176313437	TTTGAACA others(17): Show TTTGAACAAGTAATAATACTTAAAA	T T	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0298 a0002c0002t0002g0298	1	360	0.0028	-24	c.173 others(41): Show c.1735-253_1735-230delTTGAACAAGTAATAATACTTAAAA		SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9						chr5	TogoVar
SIPA1L1_chr14_71315476_71746209	71627131	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0110	1	174	0.0058	-24	c.181 others(43): Show c.1818+2915_1818+2938delTTTTTTTTTTTTTTTTTTTTTTTT		SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding	7/23					INFO_REALIGN_3_PRIME	chr14	TogoVar
SIPA1L2_chr1_232392965_232635133	232572706	TATATATA others(17): Show TATATATATATACACACATATATAC	T T	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18951.hp2 NA18952.hp1 others(4): Show NA18612.hp1 NA18951.hp2 NA18952.hp1 NA18985.hp2 NA18998.hp1 NA18998.hp2 NA19057.hp2	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0020	a0001c0001 a0001c0026 a0003c0004 others(2): Show a0001c0001 a0001c0026 a0003c0004 a0007c0063 a0020c0066	a0001c0001t0001 a0001c0026t0003 a0003c0004t0001 others(3): Show a0001c0001t0001 a0001c0026t0003 a0003c0004t0001 a0003c0004t0003 a0007c0063t0001 a0020c0066t0003	a0001c0001t0001g0101 a0001c0026t0003g0260 a0003c0004t0001g0114 others(4): Show a0001c0001t0001g0101 a0001c0026t0003g0260 a0003c0004t0001g0114 a0003c0004t0001g0201 a0003c0004t0003g0253 a0007c0063t0001g0186 a0020c0066t0003g0237	7	292	0.0240	-24	c.-27 others(43): Show c.-270+1444_-270+1467delGTATATATGTGTGTATATATATAT		SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	2/22						chr1	TogoVar
SIPA1L3_chr19_37902208_38213369	38178086	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03453.hp2 HG02257.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0109 a0001c0001t0002g0039 a0001c0001t0002g0109	2	164	0.0122	-24	c.420 others(43): Show c.4209-4404_4209-4381delGTGTGTGTGTGTGTGTGTGTGTGT		SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	15/21					INFO_REALIGN_3_PRIME	chr19	TogoVar
SIRPD_chr20_1529251_1562705	1542958	CCTTGCAT others(17): Show CCTTGCATCCCAGGGATGAAGCTGA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02109.hp1 HG02886.hp2 others(4): Show HG01109.hp2 HG02109.hp1 HG02886.hp2 HG02970.hp1 NA18522.hp1 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0053 a0001c0001t0001g0054 others(1): Show a0001c0001t0001g0016 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055	7	390	0.0180	-24	c.422 others(41): Show c.422-5672_422-5649delTCAGCTTCATCCCTGGGATGCAAG		SIRPD	ENSG00000125900.13	transcript	ENST00000381623.4	protein_coding	2/3						chr20	TogoVar
SIRT1_chr10_67879656_67923390	67884904	GGCGGCGG others(17): Show GGCGGCGGCCAGGGGCTGCCCGGGT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02630.hp2 HG02630.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0016 a0003c0011t0016	a0003c0011t0016g0350 a0003c0011t0016g0350	1	410	0.0024	-24	c.192 others(31): Show c.192_215delCAGGGGCTGCCCGGGTGCGGCGGC	p.Arg others(11): Show p.Arg65_Ala72del	SIRT1	ENSG00000096717.12	transcript	ENST00000212015.11	protein_coding	1/9	258/4107	192/2244	64/747		INFO_REALIGN_3_PRIME	chr10	TogoVar
SIRT6_chr19_4169109_4187563	4184943	GACTGGTG others(17): Show GACTGGTGGGTGGGTGGATGGATGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp1 NA19081.hp2 NA18612.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	2	410	0.0049	-24	c.-24 others(35): Show c.-2428_-2405delGCATCCATCCACCCACCCACCAGT		SIRT6	ENSG00000077463.15	transcript	ENST00000337491.7	protein_coding					2381		chr19	TogoVar
SIX2_chr2_45000182_45014452	45009655	GCGCAGAA others(17): Show GCGCAGAACTGAGGGCGGCTCTACT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	438	0.0023	-24	c.-56 others(33): Show c.-569_-546delAGTAGAGCCGCCCTCAGTTCTGCG		SIX2	ENSG00000170577.8	transcript	ENST00000303077.7	protein_coding					204		chr2	TogoVar
SIX3_chr2_44936702_44951071	44950153	TACACACA others(17): Show TACACACACACACACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0003 a0001c0001t0022g0003	1	448	0.0022	-24	c.53 others(35): Show c.5394_*5417delACACACACACACACACACACACAC		SIX3	ENSG00000138083.5	transcript	ENST00000260653.5	protein_coding					4083		chr2	TogoVar
SIX5_chr19_45759785_45774252	45770204	CCAGCAGC others(17): Show CCAGCAGCAGCAGCAGCAGCAGCAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00544.hp2 others(69): Show HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00673.hp2 HG00738.hp2 HG01106.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG01943.hp1 HG02015.hp1 HG02040.hp2 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02523.hp1 HG02572.hp2 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02970.hp2 HG03041.hp2 HG03540.hp1 HG03579.hp1 HG03669.hp1 HG03834.hp1 HG04204.hp1 HG04204.hp2 NA18747.hp2 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18946.hp1 NA18948.hp1 NA18959.hp1 NA18960.hp1 NA18964.hp2 NA18965.hp1 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp2 NA18986.hp2 NA18997.hp2 NA18998.hp1 NA18999.hp2 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19057.hp2 NA19060.hp1 NA19070.hp2 NA19077.hp2 NA19078.hp1 NA19079.hp2 NA19088.hp1 NA20300.hp1 NA20805.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0009	a0001c0001 a0001c0011 a0001c0018 others(4): Show a0001c0001 a0001c0011 a0001c0018 a0001c0019 a0002c0002 a0004c0004 a0009c0013	a0001c0001t0001 a0001c0001t0010 a0001c0001t0016 others(8): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0016 a0001c0011t0001 a0001c0018t0001 a0001c0019t0001 a0002c0002t0001 a0004c0004t0001 a0004c0004t0005 a0004c0004t0013 a0009c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0039 a0001c0001t0010g0020 others(10): Show a0001c0001t0001g0001 a0001c0001t0001g0039 a0001c0001t0010g0020 a0001c0001t0016g0027 a0001c0011t0001g0022 a0001c0018t0001g0029 a0001c0019t0001g0030 a0002c0002t0001g0002 a0002c0002t0001g0014 a0004c0004t0001g0008 a0004c0004t0005g0010 a0004c0004t0013g0038 a0009c0013t0001g0025	72	414	0.1739	-24	c.-13 others(35): Show c.-1384_-1361delCTGCTGCTGCTGCTGCTGCTGCTG		SIX5	ENSG00000177045.11	transcript	ENST00000317578.7	protein_coding					953		chr19	TogoVar
SI_chr3_164973898_165083496	164989373	GAAGAAAG others(17): Show GAAGAAAGAAAGAAAGGAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp2 HG01070.hp1 others(3): Show HG00099.hp1 HG00639.hp2 HG01070.hp1 HG01256.hp2 HG03831.hp1 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0007 a0002c0002t0002g0228 a0002c0002t0002g0230 others(2): Show a0002c0002t0002g0007 a0002c0002t0002g0228 a0002c0002t0002g0230 a0002c0002t0002g0232 a0002c0002t0002g0243	6	266	0.0226	-24	c.510 others(43): Show c.5108+1956_5108+1979delTCTTTCTTCCTTTCTTTCTTTCTT		SI	ENSG00000090402.8	transcript	ENST00000264382.8	protein_coding	44/47						chr3	TogoVar
SI_chr3_164973898_165083496	165073170	TTCTCTCT others(17): Show TTCTCTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00741.hp1 HG02145.hp2 others(4): Show HG00558.hp1 HG00741.hp1 HG02145.hp2 HG03710.hp2 NA18941.hp1 NA18947.hp1 NA18964.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0010 a0001c0021 others(1): Show a0001c0001 a0001c0010 a0001c0021 a0004c0004	a0001c0001t0001 a0001c0010t0001 a0001c0021t0001 others(1): Show a0001c0001t0001 a0001c0010t0001 a0001c0021t0001 a0004c0004t0004	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 others(4): Show a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0116 a0001c0010t0001g0103 a0001c0021t0001g0102 a0004c0004t0004g0104	7	266	0.0263	-24	c.255 others(41): Show c.255+1337_255+1360delGAGAGAGAGAGAGAGAGAGAGAGA		SI	ENSG00000090402.8	transcript	ENST00000264382.8	protein_coding	3/47						chr3	TogoVar
SKAP1_chr17_48128442_48435214	48280423	TCTGCACT others(17): Show TCTGCACTCCAGCCTGGATGACAGG	T T	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	292	0.0034	-24	c.280 others(43): Show c.280+65458_280+65481delCCTGTCATCCAGGCTGGAGTGCAG		SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	4/12						chr17	TogoVar
SKIC3_chr5_95458894_95559977	95492636	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAGAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp2 HG02896.hp1 others(4): Show HG02622.hp2 HG02630.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 NA18522.hp1 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 others(4): Show a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0303 a0001c0001t0007g0027 a0001c0001t0007g0028	7	352	0.0199	-24	c.380 others(43): Show c.3803-1624_3803-1601delTTTTTTTTCTTTTTTTTTTTTTTT		SKIC3	ENSG00000198677.13	transcript	ENST00000358746.7	protein_coding	36/42						chr5	TogoVar
SLA2_chr20_36607318_36651196	36609187	ACACACAC others(17): Show ACACACACGCACACACGCACACACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG01074.hp2 HG02257.hp2 others(1): Show HG00597.hp2 HG01074.hp2 HG02257.hp2 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0187 a0001c0001t0001g0248 a0001c0001t0001g0323 others(1): Show a0001c0001t0001g0187 a0001c0001t0001g0248 a0001c0001t0001g0323 a0001c0001t0002g0140	4	360	0.0111	-24	c.46 others(35): Show c.4655_*4678delCGTGTGTGCGTGTGTGCGTGTGTG		SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding					3130		chr20	TogoVar
SLAIN1_chr13_77692687_77769229	77693571	ATTCCTTC others(17): Show ATTCCTTCCTTCCTTCCTTCCTTCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	300	0.0033	-24	c.-43 others(35): Show c.-4342_-4319delTTCCTTCCTTCCTTCCTTCCTTCC		SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding					4115		chr13	TogoVar
SLAIN2_chr4_48336529_48431201	48384076	TTTTGCTT others(17): Show TTTTGCTTATAGATACTAGAATTAG	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01069.hp2 HG01074.hp1 others(12): Show HG00741.hp2 HG01069.hp2 HG01074.hp1 HG01109.hp2 HG02055.hp1 HG02523.hp1 HG03041.hp1 HG03490.hp2 HG03492.hp2 HG03927.hp2 HG04184.hp1 NA19030.hp1 NA20129.hp1 NA20752.hp1 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0009 a0001c0002t0030 others(1): Show a0001c0002t0005 a0001c0002t0009 a0001c0002t0030 a0001c0002t0031	a0001c0002t0005g0005 a0001c0002t0005g0173 a0001c0002t0005g0174 others(11): Show a0001c0002t0005g0005 a0001c0002t0005g0173 a0001c0002t0005g0174 a0001c0002t0005g0175 a0001c0002t0005g0176 a0001c0002t0005g0177 a0001c0002t0005g0180 a0001c0002t0005g0203 a0001c0002t0009g0171 a0001c0002t0009g0172 a0001c0002t0009g0179 a0001c0002t0009g0204 a0001c0002t0030g0205 a0001c0002t0031g0178	15	348	0.0431	-24	c.136 others(41): Show c.1360+293_1360+316delTTTGCTTATAGATACTAGAATTAG		SLAIN2	ENSG00000109171.15	transcript	ENST00000264313.11	protein_coding	6/7						chr4	TogoVar
SLAMF6_chr1_160480036_160528255	160484223	ATATATAT others(17): Show ATATATATATATATATATATATTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	394	0.0025	-24	c.24 others(35): Show c.2460_*2483delAAAATATATATATATATATATATA		SLAMF6	ENSG00000162739.14	transcript	ENST00000368057.8	protein_coding					812		chr1	TogoVar

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