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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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
SOX11_chr2_5687384_5706385	5706147	G G	GCTGGGGT others(37): Show GCTGGGGTAGAGGAGCAGGGAGACTGGGGTAGAGGAACAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0175 a0001c0001t0055 a0001c0001t0175	a0001c0001t0055g0000 a0001c0001t0175g0000 a0001c0001t0055g0000 a0001c0001t0175g0000	3	434	0.0069	44	c.12 others(57): Show c.12100_*12101insCTGGGGTAGAGGAGCAGGGAGACTGGGGTAGA GGAACAGGGAGA	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		4763		chr2	TogoVar
SOX11_chr2_5687384_5706385	5706274	A A	AGGGAGGC others(37): Show AGGGAGGCTGGGGTAGAGGAGCAGGGAGGCTGGGGTGGAGGAGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0000 a0001c0001t0036g0000	1	434	0.0023	44	c.12 others(57): Show c.12227_*12228insGGGAGGCTGGGGTAGAGGAGCAGGGAGGCTGG GGTGGAGGAGCT	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		4890		chr2	TogoVar
SOX11_chr2_5687384_5706385	5706274	A A	AGGGAGGC others(37): Show AGGGAGGCTGGGGTGGAGGAGCAGGGAGGCTGGGGTGGAGGAGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0154 a0001c0001t0154	a0001c0001t0154g0000 a0001c0001t0154g0000	1	434	0.0023	44	c.12 others(57): Show c.12227_*12228insGGGAGGCTGGGGTGGAGGAGCAGGGAGGCTGG GGTGGAGGAGCT	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		4890		chr2	TogoVar
SOX11_chr2_5687384_5706385	5706310	A A	AGAGGAGC others(37): Show AGAGGAGCAGGGAGACTGGGGTGGAGGAGCAGGGAGACTGGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0154 a0001c0001t0154	a0001c0001t0154g0000 a0001c0001t0154g0000	1	434	0.0023	44	c.12 others(57): Show c.12263_*12264insGAGGAGCAGGGAGACTGGGGTGGAGGAGCAGG GAGACTGGGGTG	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		4926		chr2	TogoVar
SOX11_chr2_5687384_5706385	5706340	A A	AGGGAGAC others(37): Show AGGGAGACTGGGGTGGAGAAGCTGGGAGGCTGGGGTGGAGGAGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	434	0.0023	44	c.12 others(57): Show c.12293_*12294insGGGAGACTGGGGTGGAGAAGCTGGGAGGCTGG GGTGGAGGAGCT	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		4956		chr2	TogoVar
SPAAR_chr9_35904490_35916686	35913508	G G	GTGTATTT others(37): Show GTGTATTTTTTTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	420	0.0024	44	c.28 others(55): Show c.2817_*2818insTGTATTTTTTTATGCTGTGGTGTGTGTGTAAGCT GTATGTGTGT	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		1823		chr9	TogoVar
SPACA5_chrX_48001988_48014733	48013051	T T	TCTTTCTT others(37): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	292	0.0034	44	c.34 others(55): Show c.3406_*3407insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTCCTTC	SPACA5	ENSG00000171489.11	transcript	ENST00000376940.4	protein_coding		3319		chrX	TogoVar
SPADH_chr10_122667850_122684494	122669000	T T	TAAAAGTT others(37): Show TAAAAGTTTATTTTGCCAAGGTTAAGGACATGACTAGAAATTGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	414	0.0024	44	c.-38 others(55): Show c.-3882_-3881insAAAAGTTTATTTTGCCAAGGTTAAGGACATGACT AGAAATTGAA	SPADH	ENSG00000286135.1	transcript	ENST00000652090.1	protein_coding		3849		chr10	TogoVar
SPAG16_chr2_213279464_214415501	213913573	A A	ATATATGT others(37): Show ATATATGTACATGTACATATACGTATATGTACATGTACATATACG	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA19030.hp2 HG03130.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0078 a0001c0001t0001g0079	2	86	0.0233	44	c.121 others(65): Show c.1215-16367_1215-16366insCGTATATGTACATGTACATATACG TATATGTACATGTACATATA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214258471	G G	GTGTGTGT others(37): Show GTGTGTGTGTGTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	86	0.0116	44	c.172 others(67): Show c.1720+109206_1720+109207insGTGTGTGTGTATATATATATAT ATATATATATATATATATATAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG4_chr20_35610829_35626094	35615424	A A	AAAAGAAA others(37): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 NA18966.hp2 HG00423.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0002 a0001c0001t0001g0007	2	320	0.0063	44	c.-58 others(53): Show c.-580_-579insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAG	SPAG4	ENSG00000061656.11	transcript	ENST00000374273.8	protein_coding		404		chr20	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAATA others(37): Show AAAAAATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	330	0.0030	44	c.-18 others(55): Show c.-1805_-1804insATATATATATATATATATATATATATATATATAT ATATATTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG6_chr10_22340496_22422610	22413688	G G	GATATATA others(37): Show GATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 NA18906.hp1 HG00642.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0005 a0001c0001t0005g0006 a0001c0001t0005g0005 a0001c0001t0005g0006	2	142	0.0141	44	c.146 others(63): Show c.1460+2532_1460+2533insATATATATATATATATATATATATAT ATATATATATATATATAT	SPAG6	ENSG00000077327.16	transcript	ENST00000376624.8	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
SPATA16_chr3_172884357_173146235	172960875	C C	CTCTTTCT others(37): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02145.hp1 HG02280.hp1 others(1): Show HG02074.hp2 HG02145.hp1 HG02280.hp1 HG03831.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0070 a0001c0004t0001g0135 a0002c0002t0001g0198 others(1): Show a0001c0001t0001g0070 a0001c0004t0001g0135 a0002c0002t0001g0198 a0003c0003t0001g0193	4	200	0.0200	44	c.934 others(61): Show c.934-4052_934-4051insAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGA	SPATA16	ENSG00000144962.7	transcript	ENST00000351008.4	protein_coding	5/10			chr3	TogoVar
SPATA17_chr1_217626344_217876696	217749985	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTCTCTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0167 a0001c0001t0002g0167	1	252	0.0040	44	c.519 others(61): Show c.519+7888_519+7889insCTCTCTCTCTCTCTCTCTATATATATAT ATATATATATATATAT	SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA48_chr7_50090883_50164256	50155815	G G	GGCTGTCA others(37): Show GGCTGTCATCCATGGCCCTCACTATACACACATACTGCACATACA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(303): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18988.hp1 NA18988.hp2 NA18991.hp1 NA18991.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19072.hp1 NA19072.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0010 a0011	a0001c0001 a0002c0002 a0002c0005 others(10): Show a0001c0001 a0002c0002 a0002c0005 a0002c0010 a0003c0003 a0003c0006 a0004c0004 a0004c0007 a0005c0008 a0006c0009 a0007c0011 a0010c0014 a0011c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0002c0002t0001 a0002c0002t0003 a0002c0005t0001 a0002c0010t0001 a0003c0003t0001 a0003c0006t0001 a0004c0004t0001 a0004c0007t0001 a0005c0008t0001 a0006c0009t0002 a0007c0011t0001 a0010c0014t0004 a0011c0015t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(286): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0290 a0001c0001t0002g0001 a0001c0001t0002g0127 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0004g0106 a0001c0001t0005g0222 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0024 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0040 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0081 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0094 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0118 a0002c0002t0001g0220 a0002c0002t0001g0241 a0002c0002t0001g0279 a0002c0002t0003g0018 a0002c0002t0003g0242 a0002c0002t0003g0243 a0002c0002t0003g0244 a0002c0002t0003g0245 a0002c0005t0001g0251 a0002c0005t0001g0252 a0002c0005t0001g0253 a0002c0005t0001g0254 a0002c0005t0001g0255 a0002c0005t0001g0256 a0002c0005t0001g0257 a0002c0005t0001g0258 a0002c0005t0001g0259 a0002c0005t0001g0260 a0002c0005t0001g0261 a0002c0005t0001g0262 a0002c0005t0001g0263 a0002c0005t0001g0264 a0002c0005t0001g0306 a0002c0005t0001g0310 a0002c0010t0001g0308 a0002c0010t0001g0309 a0003c0003t0001g0002 a0003c0003t0001g0011 a0003c0003t0001g0012 a0003c0003t0001g0013 a0003c0003t0001g0014 a0003c0003t0001g0015 a0003c0003t0001g0016 a0003c0003t0001g0017 a0003c0003t0001g0019 a0003c0003t0001g0020 a0003c0003t0001g0021 a0003c0003t0001g0022 a0003c0003t0001g0023 a0003c0003t0001g0074 a0003c0003t0001g0080 a0003c0003t0001g0247 a0003c0003t0001g0248 a0003c0003t0001g0249 a0003c0003t0001g0265 a0003c0003t0001g0266 a0003c0003t0001g0267 a0003c0003t0001g0268 a0003c0003t0001g0270 a0003c0003t0001g0271 a0003c0003t0001g0272 a0003c0003t0001g0274 a0003c0003t0001g0275 a0003c0003t0001g0276 a0003c0003t0001g0277 a0003c0003t0001g0278 a0003c0003t0001g0280 a0003c0003t0001g0281 a0003c0003t0001g0282 a0003c0003t0001g0283 a0003c0003t0001g0284 a0003c0003t0001g0285 a0003c0003t0001g0286 a0003c0003t0001g0287 a0003c0003t0001g0288 a0003c0003t0001g0289 a0003c0003t0001g0291 a0003c0003t0001g0292 a0003c0003t0001g0293 a0003c0003t0001g0294 a0003c0003t0001g0295 a0003c0003t0001g0296 a0003c0003t0001g0297 a0003c0003t0001g0298 a0003c0003t0001g0299 a0003c0003t0001g0300 a0003c0003t0001g0301 a0003c0003t0001g0302 a0003c0006t0001g0131 a0003c0006t0001g0211 a0003c0006t0001g0250 a0003c0006t0001g0303 a0004c0004t0001g0010 a0004c0004t0001g0031 a0004c0004t0001g0032 a0004c0004t0001g0033 a0004c0004t0001g0041 a0004c0004t0001g0066 a0004c0004t0001g0067 a0004c0004t0001g0068 a0004c0004t0001g0082 a0004c0004t0001g0083 a0004c0004t0001g0084 a0004c0004t0001g0088 a0004c0004t0001g0089 a0004c0004t0001g0095 a0004c0004t0001g0096 a0004c0004t0001g0104 a0004c0004t0001g0221 a0004c0004t0001g0223 a0004c0004t0001g0225 a0004c0004t0001g0229 a0004c0004t0001g0239 a0004c0007t0001g0304 a0004c0007t0001g0305 a0004c0007t0001g0307 a0005c0008t0001g0190 a0005c0008t0001g0208 a0006c0009t0002g0006 a0007c0011t0001g0269 a0010c0014t0004g0210 a0011c0015t0001g0099	306	328	0.9329	44	c.119 others(63): Show c.1194-3227_1194-3184dupGTCATCCATGGCCCTCACTATACACA CATACTGCACATACAGCT	SPATA48	ENSG00000164500.7	transcript	ENST00000297001.7	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SPATA48_chr7_50090883_50164256	50155832	C C	CTCACTAT others(37): Show CTCACTATACACACATACTGCACATACAGCTGTCATCCATGGCCT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0069 a0004c0004t0001g0069	1	328	0.0031	44	c.119 others(63): Show c.1194-3184_1194-3183insGTCATCCATGGCCTTCACTATACACA CATACTGCACATACAGCT	SPATA48	ENSG00000164500.7	transcript	ENST00000297001.7	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SPCS2_chr11_74944266_74984033	74955851	A A	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	378	0.0027	44	c.114 others(61): Show c.114+6488_114+6489insATATATATATATATATATATATATATAT ATATATATATATATAT	SPCS2	ENSG00000118363.13	transcript	ENST00000263672.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPDYE1_chr7_43992897_44015124	43994418	G G	GAAAGAAA others(37): Show GAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0003 a0001c0001t0013g0003	1	394	0.0025	44	c.-39 others(55): Show c.-3964_-3963insAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAG AAAGAAAGAA	SPDYE1	ENSG00000136206.5	transcript	ENST00000693451.1	protein_coding		3478		chr7	TogoVar
SPDYE1_chr7_43992897_44015124	43994418	G G	GAAAGAAA others(37): Show GAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0003	2	394	0.0051	44	c.-39 others(55): Show c.-3964_-3963insAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAG AAAGAAAGAA	SPDYE1	ENSG00000136206.5	transcript	ENST00000693451.1	protein_coding		3478		chr7	TogoVar
SPDYE1_chr7_43992897_44015124	43994418	G G	GAAAGAAA others(37): Show GAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG02080.hp1 HG00642.hp2 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0003	2	394	0.0051	44	c.-39 others(55): Show c.-3964_-3963insAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAG AAAGAAAGAA	SPDYE1	ENSG00000136206.5	transcript	ENST00000693451.1	protein_coding		3478		chr7	TogoVar
SPECC1L_chr22_24265831_24422738	24308004	A A	AAGGACTA others(37): Show AAGGACTAGTACTAAGAATTCCAGTATACTCTATCAGATATCCTC	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	326	0.0031	44	c.154 others(61): Show c.154-5309_154-5308insAGGACTAGTACTAAGAATTCCAGTATAC TCTATCAGATATCCTC	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding	3/16			chr22	TogoVar
SPHKAP_chr2_227974955_228186687	228139910	T T	TTTTCTTT others(37): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00642.hp1 HG01243.hp2 others(19): Show HG00558.hp2 HG00642.hp1 HG01243.hp2 HG01993.hp1 HG02056.hp1 HG02071.hp2 HG02132.hp1 HG02280.hp1 HG02602.hp2 HG02896.hp1 HG02897.hp1 HG03834.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp2 NA18959.hp1 NA18968.hp2 NA18992.hp2 NA19058.hp1 NA19074.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0007 a0016	a0001c0001 a0002c0002 a0004c0004 others(3): Show a0001c0001 a0002c0002 a0004c0004 a0005c0003 a0007c0008 a0016c0023	a0001c0001t0002 a0002c0002t0001 a0004c0004t0003 others(4): Show a0001c0001t0002 a0002c0002t0001 a0004c0004t0003 a0005c0003t0001 a0005c0003t0002 a0007c0008t0008 a0016c0023t0008	a0001c0001t0002g0035 a0001c0001t0002g0126 a0001c0001t0002g0198 others(19): Show a0001c0001t0002g0035 a0001c0001t0002g0126 a0001c0001t0002g0198 a0001c0001t0002g0218 a0001c0001t0002g0222 a0001c0001t0002g0228 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0002c0002t0001g0220 a0004c0004t0003g0130 a0004c0004t0003g0179 a0004c0004t0003g0231 a0004c0004t0003g0234 a0004c0004t0003g0244 a0005c0003t0001g0208 a0005c0003t0001g0295 a0005c0003t0001g0305 a0005c0003t0002g0250 a0007c0008t0008g0088 a0007c0008t0008g0096 a0016c0023t0008g0224	22	322	0.0683	44	c.33- others(59): Show c.33-7826_33-7825insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAA	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	1/11			chr2	TogoVar
SPICE1_chr3_113437718_113520156	113480912	T T	TAAAGAAA others(37): Show TAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp2 HG01243.hp1 others(10): Show HG00544.hp1 HG00597.hp2 HG01243.hp1 HG02257.hp2 HG02280.hp2 HG02572.hp1 HG02698.hp2 HG02738.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp1 NA18989.hp2 NA19077.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0007 others(2): Show a0001c0001 a0001c0004 a0001c0007 a0002c0003 a0002c0008	a0001c0001t0004 a0001c0001t0006 a0001c0004t0002 others(4): Show a0001c0001t0004 a0001c0001t0006 a0001c0004t0002 a0001c0007t0002 a0002c0003t0009 a0002c0003t0030 a0002c0008t0012	a0001c0001t0004g0182 a0001c0001t0006g0323 a0001c0001t0006g0325 others(10): Show a0001c0001t0004g0182 a0001c0001t0006g0323 a0001c0001t0006g0325 a0001c0001t0006g0328 a0001c0001t0006g0331 a0001c0001t0006g0332 a0001c0004t0002g0094 a0001c0007t0002g0070 a0002c0003t0009g0346 a0002c0003t0009g0350 a0002c0003t0030g0337 a0002c0008t0012g0110 a0002c0008t0012g0178	13	364	0.0357	44	c.611 others(61): Show c.611+8032_611+8033insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT	SPICE1	ENSG00000163611.11	transcript	ENST00000295872.8	protein_coding	7/17			chr3	TogoVar
SPIN1_chr9_88383444_88483694	88441414	T T	TGTGTGTG others(37): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG01993.hp1 NA19003.hp2 HG01993.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0018 a0001c0001t0005g0021 a0001c0001t0005g0018 a0001c0001t0005g0021	2	176	0.0114	44	c.53- others(59): Show c.53-7526_53-7525insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGCGCG	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPINK6_chr5_148198042_148220137	148210007	C C	CATACACA others(37): Show CATACACACGTACGTATGTATGTATACATACACACGTACATATGT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	438	0.0023	44	c.82- others(59): Show c.82-3901_82-3900insACACACGTACGTATGTATGTATACATACAC ACGTACATATGTAT	SPINK6	ENSG00000178172.7	transcript	ENST00000325630.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPINK6_chr5_148198042_148220137	148210007	C C	CATACACA others(37): Show CATACACACGTACGTATGTATGTATACATACACACGTACGTATGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(144): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00597.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00741.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01515.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02040.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02258.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02523.hp2 HG02622.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02976.hp2 HG03225.hp1 HG03239.hp2 HG03490.hp1 HG03492.hp2 HG03540.hp1 HG03654.hp2 HG03704.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04184.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18939.hp1 NA18945.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18952.hp2 NA18955.hp2 NA18956.hp1 NA18959.hp1 NA18961.hp1 NA18964.hp1 NA18966.hp2 NA18968.hp1 NA18971.hp1 NA18972.hp2 NA18975.hp2 NA18978.hp1 NA18979.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18987.hp1 NA18993.hp2 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19005.hp2 NA19006.hp2 NA19009.hp1 NA19011.hp2 NA19030.hp2 NA19054.hp2 NA19055.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19065.hp1 NA19074.hp2 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19080.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0009 others(43): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0121 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0003c0003t0001g0125	147	438	0.3356	44	c.82- others(59): Show c.82-3901_82-3900insACACACGTACGTATGTATGTATACATACAC ACGTACGTATGTAT	SPINK6	ENSG00000178172.7	transcript	ENST00000325630.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPINK6_chr5_148198042_148220137	148210007	C C	CATACACA others(37): Show CATACACACGTACGTATGTATGTATACATACACACGTACGTGTGT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	438	0.0023	44	c.82- others(59): Show c.82-3901_82-3900insACACACGTACGTATGTATGTATACATACAC ACGTACGTGTGTAT	SPINK6	ENSG00000178172.7	transcript	ENST00000325630.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPINK6_chr5_148198042_148220137	148210007	C C	CATACACA others(37): Show CATACACACGTACGTATGTATGTATACATAGACACGTACGTATGT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	438	0.0023	44	c.82- others(59): Show c.82-3901_82-3900insACACACGTACGTATGTATGTATACATAGAC ACGTACGTATGTAT	SPINK6	ENSG00000178172.7	transcript	ENST00000325630.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPINK6_chr5_148198042_148220137	148210007	C C	CATACACA others(37): Show CATACACACGTACGTGTGTATGTATACATACACACGTACGTATGT	intron_variant intron_variant	MODIFIER	HG03942.hp2 NA18971.hp2 NA18998.hp1 HG03942.hp2 NA18971.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0167	3	438	0.0069	44	c.82- others(59): Show c.82-3901_82-3900insACACACGTACGTGTGTATGTATACATACAC ACGTACGTATGTAT	SPINK6	ENSG00000178172.7	transcript	ENST00000325630.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPINK6_chr5_148198042_148220137	148210007	C C	CATACACA others(37): Show CATACACACGTACGTGTGTATGTATACATACACACGTACGTGTGT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02559.hp1 HG01106.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0096 a0001c0001t0001g0097	2	438	0.0046	44	c.82- others(59): Show c.82-3901_82-3900insACACACGTACGTGTGTATGTATACATACAC ACGTACGTGTGTAT	SPINK6	ENSG00000178172.7	transcript	ENST00000325630.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPINT4_chr20_45717347_45730830	45725013	T T	TATACACA others(37): Show TATACACATATATATATATATATATATACACATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0110 a0002c0002t0001g0110	1	458	0.0022	44	c.294 others(59): Show c.294-613_294-612insCACATATATATATATATATATATACACATA TATATATACACATA	SPINT4	ENSG00000149651.4	transcript	ENST00000279058.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPIRE2_chr16_89823475_89876319	89848906	G G	GTTCCAGG others(37): Show GTTCCAGGGCCTTCTGCAGTGTTTCTGCAGGACAGATGAGGCAGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(24): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01358.hp2 HG01516.hp1 HG01517.hp2 HG01978.hp1 HG01993.hp1 HG02300.hp2 HG02602.hp1 HG02698.hp1 HG02738.hp2 HG03834.hp1 HG04184.hp1 HG04204.hp2 HG04228.hp2 NA18522.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0010 a0003c0005t0001 a0001c0001t0001 a0001c0001t0010 a0003c0005t0001	a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 others(24): Show a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0327 a0001c0001t0001g0347 a0001c0001t0001g0349 a0001c0001t0001g0353 a0001c0001t0010g0348 a0003c0005t0001g0296 a0003c0005t0001g0297 a0003c0005t0001g0298 a0003c0005t0001g0299 a0003c0005t0001g0300 a0003c0005t0001g0301 a0003c0005t0001g0304 a0003c0005t0001g0309 a0003c0005t0001g0310 a0003c0005t0001g0312	27	356	0.0758	44	c.289 others(61): Show c.289-1363_289-1362insTGAGGCAGTTTCCAGGGCCTTCTGCAGT GTTTCTGCAGGACAGA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAA others(37): Show AAAAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	356	0.0028	44	c.180 others(61): Show c.1807-513_1807-512insAAAAAAAAAATATATATATATATATATA TATATATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAA others(37): Show AAAAAAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	356	0.0028	44	c.180 others(61): Show c.1807-513_1807-512insAAAAAAAATATATATATATATATATATA TATATATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAACA others(37): Show AAAAAACATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03130.hp2 HG02818.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0323 a0001c0001t0003g0342 a0001c0001t0003g0323 a0001c0001t0003g0342	2	356	0.0056	44	c.180 others(61): Show c.1807-513_1807-512insAAAACATATATATATATATATATATATA TATATATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAACAAA others(37): Show AAAACAAACATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0337 a0001c0001t0001g0337	1	356	0.0028	44	c.180 others(61): Show c.1807-513_1807-512insAACAAACATATATATATATATATATATA TATATATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAACAAAC others(37): Show AAACAAACATATATATATGATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0326 a0001c0001t0003g0326	1	356	0.0028	44	c.180 others(61): Show c.1807-513_1807-512insACAAACATATATATATGATATATATATA TATATATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPNS3_chr17_4428940_4493204	4462582	C C	CACCCACC others(37): Show CACCCACCCACCCACCCACCCACCCACCCATTCATCCACCAATCT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02818.hp2 HG03209.hp2 HG02809.hp2 HG02818.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0001c0001t0001 a0001c0001t0002 a0001c0003t0002	a0001c0001t0001g0044 a0001c0001t0002g0341 a0001c0003t0002g0129 a0001c0001t0001g0044 a0001c0001t0002g0341 a0001c0003t0002g0129	3	362	0.0083	44	c.111 others(63): Show c.1113+9378_1113+9379insCCCACCCACCCACCCACCCACCCACC CATTCATCCACCAATCTA	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPOCK1_chr5_136970298_137504326	137356838	T T	TATATATA others(37): Show TATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0106	1	152	0.0066	44	c.187 others(63): Show c.187-89784_187-89783insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTATATATATAT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK3_chr4_166728384_167239494	166860802	C C	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATGTATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03540.hp2 HG03139.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0003 a0001c0008t0001 a0001c0001t0003 a0001c0008t0001	a0001c0001t0003g0047 a0001c0008t0001g0139 a0001c0001t0003g0047 a0001c0008t0001g0139	2	144	0.0139	44	c.589 others(63): Show c.589+28327_589+28328insATATACATATATATATATATATATAT ATATATATATATATATAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10			chr4	TogoVar
SPON1_chr11_13957723_14273133	14160431	T T	TTATATAT others(37): Show TTATATATATATATTTATATATATATATTTATATATATATATTTA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01261.hp1 HG02735.hp2 others(4): Show HG01167.hp2 HG01261.hp1 HG02735.hp2 HG03041.hp2 HG03225.hp1 HG03486.hp1 HG03540.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 a0001c0004t0001 a0003c0007t0001	a0001c0001t0001g0005 a0001c0001t0002g0006 a0001c0001t0002g0009 others(4): Show a0001c0001t0001g0005 a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0002t0001g0040 a0001c0002t0003g0219 a0001c0004t0001g0087 a0003c0007t0001g0031	7	224	0.0313	44	c.825 others(63): Show c.825+24874_825+24875insATTTATATATATATATTTATATATAT ATATTTATATATATATAT	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON2_chr4_1161932_1177583	1175462	C C	CGGTGGGC others(37): Show CGGTGGGCCCAGGCTGGGGGGTCTCCAGCTAGGATGTAGGGCGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG03139.hp2 HG06807.hp1 HG02922.hp1 HG03139.hp2 HG06807.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0015 a0002c0003t0001g0015	3	432	0.0069	44	c.-29 others(55): Show c.-2966_-2923dupACCGCCCTACATCCTAGCTGGAGACCCCCCAGCC TGGGCCCACC	SPON2	ENSG00000159674.12	transcript	ENST00000290902.10	protein_coding		2880		chr4	TogoVar
SPPL2B_chr19_2323684_2360095	2349311	A A	ACTCACGC others(37): Show ACTCACGCGCTCTCATTCGCTTGATTCCGTTCTCTCCACACACCT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0029 a0002c0029	a0002c0029t0027 a0002c0029t0027	a0002c0029t0027g0052 a0002c0029t0027g0052	1	414	0.0024	44	c.135 others(63): Show c.1355-2122_1355-2121insTCACGCGCTCTCATTCGCTTGATTCC GTTCTCTCCACACACCTC	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPRY3_chrX_155607586_155787459	155777636	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATATGTAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00738.hp1 HG01943.hp1 HG01952.hp1 others(22): Show HG00738.hp1 HG01943.hp1 HG01952.hp1 HG02040.hp1 HG02055.hp1 HG02273.hp2 HG02293.hp2 HG02486.hp1 HG02559.hp2 HG02809.hp1 HG03139.hp1 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03834.hp2 HG03942.hp1 HG04228.hp1 NA18943.hp1 NA18948.hp1 NA18952.hp1 NA18971.hp1 NA19004.hp1 NA19007.hp1 NA19058.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0004 a0001c0001t0027 a0001c0001t0035 others(14): Show a0001c0001t0004 a0001c0001t0027 a0001c0001t0035 a0001c0001t0037 a0001c0001t0042 a0001c0001t0071 a0001c0001t0072 a0001c0001t0091 a0001c0001t0119 a0001c0001t0120 a0001c0001t0122 a0001c0001t0123 a0001c0002t0026 a0001c0002t0121 a0001c0002t0140 a0002c0003t0026 a0002c0003t0118	a0001c0001t0004g0061 a0001c0001t0004g0101 a0001c0001t0004g0126 others(22): Show a0001c0001t0004g0061 a0001c0001t0004g0101 a0001c0001t0004g0126 a0001c0001t0004g0145 a0001c0001t0004g0156 a0001c0001t0004g0182 a0001c0001t0004g0183 a0001c0001t0027g0026 a0001c0001t0027g0172 a0001c0001t0035g0125 a0001c0001t0035g0187 a0001c0001t0037g0097 a0001c0001t0042g0070 a0001c0001t0071g0088 a0001c0001t0072g0028 a0001c0001t0091g0016 a0001c0001t0119g0173 a0001c0001t0120g0199 a0001c0001t0122g0107 a0001c0001t0123g0009 a0001c0002t0026g0167 a0001c0002t0121g0010 a0001c0002t0140g0142 a0002c0003t0026g0195 a0002c0003t0118g0197	25	231	0.1082	44	c.29 others(55): Show c.2906_*2907insATATATATATATATATATATATATATATATATGT AAATATATAT	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	3/3	2907	INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155777636	T T	TTTATATA others(37): Show TTTATATATATATATATATATATATATATATATATATATATGTAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0025 a0001c0001t0079g0025	1	231	0.0043	44	c.28 others(55): Show c.2898_*2899insTTATATATATATATATATATATATATATATATAT ATATATGTAA	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	3/3	2899		chrX	TogoVar
SPTA1_chr1_158605704_158691715	158691482	G G	GCGGGGCT others(37): Show GCGGGGCTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0069 a0069	a0069c0040 a0069c0040	a0069c0040t0013 a0069c0040t0013	a0069c0040t0013g0250 a0069c0040t0013g0250	1	370	0.0027	44	c.-49 others(55): Show c.-4966_-4965insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTAAGCCCCG	SPTA1	ENSG00000163554.15	transcript	ENST00000643759.2	protein_coding		4768		chr1	TogoVar
SPTBN1_chr2_54451327_54676446	54485152	C C	CTCTCCCT others(37): Show CTCTCCCTCTCCCTCTCCCTCCGTCTCCCTCTCCCTCTCCCTCCG	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0122 a0001c0002t0005g0122	1	370	0.0027	44	c.-48 others(63): Show c.-48+28667_-48+28668insCTCTCCCTCCGTCTCCCTCTCCCTCT CCCTCCGTCTCCCTCTCC	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54522646	A A	AAGAAAGA others(37): Show AAGAAAGAGAGAGAGAGGAGAGAGAGAGAGAGAGGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01258.hp2 HG03579.hp2 others(1): Show HG01109.hp1 HG01258.hp2 HG03579.hp2 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0004 a0001c0003t0003 a0001c0002t0004 a0001c0003t0003	a0001c0002t0004g0101 a0001c0003t0003g0113 a0001c0003t0003g0357 others(1): Show a0001c0002t0004g0101 a0001c0003t0003g0113 a0001c0003t0003g0357 a0001c0003t0003g0360	4	370	0.0108	44	c.-47 others(61): Show c.-47-3723_-47-3722insAAGAGAGAGAGAGGAGAGAGAGAGAGAG AGGAGAGAGAGAGAGA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54522697	G G	GAGAGAGA others(37): Show GAGAGAGAGAGAGAGAGAGAGAGAGAAAGAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0241 a0001c0001t0019g0241	1	370	0.0027	44	c.-47 others(61): Show c.-47-3672_-47-3671insGAGAGAGAGAGAGAGAGAGAGAAAGAGA AAGAAAGAAAGAAAGA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar

Search by Variant

Search

Search Results (Total: 4475 hits)