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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ALDH1L2_chr12_105014790_105089458	105046193	C C	CTCTATAT others(7): Show CTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0355 a0001c0001t0001g0355	1	386	0.0026	14	c.186 others(31): Show c.1863+516_1863+517insTATATATATATAGA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	15/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105046193	C C	CTCTCTCT others(7): Show CTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0128 a0001c0001t0003g0128	1	386	0.0026	14	c.186 others(31): Show c.1863+516_1863+517insTATATATAGAGAGA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	15/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105046193	C C	CTCTCTCT others(7): Show CTCTCTCTCTCTATA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0011 a0001c0001t0008g0011	1	386	0.0026	14	c.186 others(31): Show c.1863+516_1863+517insTATAGAGAGAGAGA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	15/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105046193	C C	CTCTCTCT others(7): Show CTCTCTCTCTCTCTA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0059 a0001c0001t0008g0059	1	386	0.0026	14	c.186 others(31): Show c.1863+516_1863+517insTAGAGAGAGAGAGA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	15/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105071614	G G	GTATATAT others(7): Show GTATATATATATATA	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0201 a0001c0002t0002g0201	1	386	0.0026	14	c.194 others(29): Show c.194-824_194-811dupTATATATATATATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105071642	A A	ATATATAT others(7): Show ATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG03942.hp1 NA18952.hp1 others(3): Show HG00741.hp1 HG03942.hp1 NA18952.hp1 NA18960.hp2 NA18993.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0013 a0001c0001 a0001c0002 a0001c0013	a0001c0001t0003 a0001c0001t0004 a0001c0002t0002 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0002t0002 a0001c0013t0002	a0001c0001t0003g0112 a0001c0001t0003g0139 a0001c0001t0004g0228 others(3): Show a0001c0001t0003g0112 a0001c0001t0003g0139 a0001c0001t0004g0228 a0001c0002t0002g0113 a0001c0002t0002g0188 a0001c0013t0002g0140	6	386	0.0155	14	c.194 others(29): Show c.194-839_194-838insAATATATATATATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105071642	A A	ATATATAT others(7): Show ATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0103 a0001c0001t0030g0103	1	386	0.0026	14	c.194 others(29): Show c.194-839_194-838insAAAATATATATATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105071642	A A	ATATATAT others(7): Show ATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA19006.hp2 HG02027.hp1 NA19006.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0004 a0003c0005t0003 a0001c0001t0004 a0003c0005t0003	a0001c0001t0004g0156 a0003c0005t0003g0136 a0001c0001t0004g0156 a0003c0005t0003g0136	2	386	0.0052	14	c.194 others(29): Show c.194-839_194-838insAAAAAAAATATATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22			chr12	TogoVar
ALDH3A2_chr17_19643751_19682596	19665376	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG02055.hp1 HG02723.hp1 others(4): Show HG01517.hp1 HG02055.hp1 HG02723.hp1 HG03139.hp1 HG03225.hp1 HG03516.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0004 a0001c0005t0019 a0001c0001t0004 a0001c0005t0019	a0001c0001t0004g0023 a0001c0001t0004g0048 a0001c0001t0004g0051 others(3): Show a0001c0001t0004g0023 a0001c0001t0004g0048 a0001c0001t0004g0051 a0001c0001t0004g0052 a0001c0001t0004g0053 a0001c0005t0019g0046	7	366	0.0191	14	c.120 others(31): Show c.1207+349_1207+362dupTGTGTGTGTGTGTG	ALDH3A2	ENSG00000072210.19	transcript	ENST00000176643.11	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
ALDH3A2_chr17_19643751_19682596	19682329	T T	TCACACAC others(7): Show TCACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 NA18522.hp1 NA18980.hp2 HG03486.hp1 NA18522.hp1 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0003 a0001c0001t0012	a0001c0001t0003g0007 a0001c0001t0003g0035 a0001c0001t0012g0035 a0001c0001t0003g0007 a0001c0001t0003g0035 a0001c0001t0012g0035	3	366	0.0082	14	c.67 others(25): Show c.6757_*6758insCACACACACACACA	ALDH3A2	ENSG00000072210.19	transcript	ENST00000176643.11	protein_coding		4734		chr17	TogoVar
ALDH3B2_chr11_67657155_67679623	67672042	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0199 a0004c0004t0003g0199	1	390	0.0026	14	c.-24 others(33): Show c.-245+2380_-245+2393dupATATATATATATAT	ALDH3B2	ENSG00000132746.16	transcript	ENST00000673966.2	protein_coding	1/9			chr11	TogoVar
ALDH3B2_chr11_67657155_67679623	67672085	A A	ATATATAT others(7): Show ATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18999.hp2 NA18992.hp2 NA18999.hp2	a0001 a0021 a0001 a0021	a0001c0001 a0021c0027 a0001c0001 a0021c0027	a0001c0001t0001 a0021c0027t0002 a0001c0001t0001 a0021c0027t0002	a0001c0001t0001g0062 a0021c0027t0002g0174 a0001c0001t0001g0062 a0021c0027t0002g0174	2	390	0.0051	14	c.-24 others(33): Show c.-245+2350_-245+2351insCATATATATATATA	ALDH3B2	ENSG00000132746.16	transcript	ENST00000673966.2	protein_coding	1/9			chr11	TogoVar
ALDH4A1_chr1_18866430_18907555	18876661	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp1 HG01099.hp1 others(14): Show HG00140.hp2 HG00438.hp1 HG01099.hp1 HG02055.hp2 HG02257.hp1 HG02723.hp1 HG02809.hp2 HG02886.hp1 HG02976.hp1 HG03139.hp1 HG03540.hp2 NA18747.hp2 NA18906.hp1 NA18964.hp2 NA18966.hp1 NA18969.hp2 NA19090.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0002c0008 a0003c0006 a0010c0024	a0001c0001t0007 a0001c0002t0007 a0001c0002t0028 others(6): Show a0001c0001t0007 a0001c0002t0007 a0001c0002t0028 a0001c0003t0002 a0001c0004t0002 a0001c0005t0001 a0002c0008t0032 a0003c0006t0002 a0010c0024t0002	a0001c0001t0007g0019 a0001c0001t0007g0071 a0001c0002t0007g0273 others(12): Show a0001c0001t0007g0019 a0001c0001t0007g0071 a0001c0002t0007g0273 a0001c0002t0007g0304 a0001c0002t0028g0309 a0001c0003t0002g0200 a0001c0004t0002g0057 a0001c0004t0002g0113 a0001c0004t0002g0114 a0001c0004t0002g0221 a0001c0004t0002g0289 a0001c0005t0001g0148 a0002c0008t0032g0330 a0003c0006t0002g0035 a0010c0024t0002g0066	17	406	0.0419	14	c.118 others(31): Show c.1186-208_1186-195dupCACACACACACACA	ALDH4A1	ENSG00000159423.17	transcript	ENST00000375341.8	protein_coding	11/14			chr1	TogoVar
ALDH5A1_chr6_24489969_24542207	24506243	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	368	0.0027	14	c.726 others(31): Show c.726+1275_726+1288dupTTTTTTTTTTTTTT	ALDH5A1	ENSG00000112294.14	transcript	ENST00000357578.8	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
ALDH5A1_chr6_24489969_24542207	24508361	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp2 HG01943.hp2 others(8): Show HG01891.hp1 HG01891.hp2 HG01943.hp2 HG02723.hp1 HG02970.hp2 HG03098.hp2 HG03195.hp1 HG03225.hp1 HG03579.hp2 HG03834.hp2 NA19043.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 others(4): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0007 a0002c0002t0018 a0002c0002t0019 a0003c0003t0001	a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0003g0342 others(8): Show a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0003g0342 a0002c0002t0003g0343 a0002c0002t0003g0345 a0002c0002t0003g0346 a0002c0002t0005g0065 a0002c0002t0007g0068 a0002c0002t0018g0070 a0002c0002t0019g0119 a0003c0003t0001g0040	11	368	0.0299	14	c.726 others(31): Show c.726+3390_726+3403dupAAAAAAAAAAAAAA	ALDH5A1	ENSG00000112294.14	transcript	ENST00000357578.8	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
ALDH5A1_chr6_24489969_24542207	24522478	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0346 a0002c0002t0003g0346	1	368	0.0027	14	c.101 others(31): Show c.1015-276_1015-263dupGTGTGTGTGTGTGT	ALDH5A1	ENSG00000112294.14	transcript	ENST00000357578.8	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
ALDH5A1_chr6_24489969_24542207	24522501	G G	GTGTGTGT others(7): Show GTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00609.hp2 others(41): Show HG00280.hp1 HG00408.hp1 HG00609.hp2 HG00639.hp1 HG00733.hp1 HG00735.hp2 HG01074.hp2 HG01099.hp2 HG01123.hp2 HG01169.hp1 HG01243.hp1 HG01496.hp2 HG01517.hp1 HG01884.hp2 HG01981.hp2 HG02040.hp1 HG02083.hp2 HG02129.hp1 HG02148.hp1 HG02523.hp2 HG02615.hp2 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp2 HG03491.hp1 HG03710.hp1 HG03927.hp2 HG04184.hp1 NA18522.hp1 NA18952.hp1 NA18962.hp2 NA18970.hp2 NA18983.hp2 NA18986.hp1 NA18997.hp1 NA19011.hp2 NA19054.hp1 NA19086.hp1 NA19087.hp1 NA20129.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0006 a0001c0001 a0002c0002 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0016 a0002c0002t0001 a0004c0006t0002	a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0142 others(37): Show a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0142 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0115 a0001c0001t0002g0125 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0144 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0163 a0001c0001t0002g0166 a0001c0001t0002g0292 a0001c0001t0004g0133 a0001c0001t0008g0007 a0001c0001t0008g0143 a0001c0001t0008g0145 a0001c0001t0008g0154 a0001c0001t0016g0132 a0002c0002t0001g0073 a0004c0006t0002g0327	44	368	0.1196	14	c.101 others(31): Show c.1015-263_1015-262insGTGTGTGTGTATGT	ALDH5A1	ENSG00000112294.14	transcript	ENST00000357578.8	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
ALDH5A1_chr6_24489969_24542207	24526965	T T	TTCTATAT others(7): Show TTCTATATATATCTA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02922.hp2 NA18522.hp2 HG02145.hp1 HG02922.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0348 a0001c0001t0002g0349 a0001c0001t0002g0120 a0001c0001t0002g0348 a0001c0001t0002g0349	3	368	0.0082	14	c.117 others(33): Show c.1174-1032_1174-1031insTCTATATATATCTA	ALDH5A1	ENSG00000112294.14	transcript	ENST00000357578.8	protein_coding	7/9			chr6	TogoVar
ALDH7A1_chr5_126536841_126600219	126593308	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG06807.hp1 HG03130.hp1 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0014 a0001c0003t0006g0020 a0001c0003t0006g0014 a0001c0003t0006g0020	2	380	0.0053	14	c.246 others(27): Show c.246+29_246+42dupGTGTGTGTGTGTGT	ALDH7A1	ENSG00000164904.18	transcript	ENST00000409134.8	protein_coding	2/17			chr5	TogoVar
ALG10B_chr12_38311774_38334721	38333759	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00544.hp1 others(35): Show HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00621.hp2 HG01106.hp1 HG01257.hp2 HG01258.hp1 HG01361.hp1 HG01496.hp1 HG02300.hp1 HG02818.hp2 HG03471.hp2 HG03491.hp1 HG03669.hp1 HG03704.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18953.hp2 NA18960.hp1 NA18966.hp1 NA18966.hp2 NA18980.hp2 NA18983.hp2 NA18990.hp1 NA18990.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19058.hp2 NA19060.hp2 NA19066.hp2 NA19085.hp1 NA19087.hp1 NA19088.hp1 NA20805.hp2	a0001 a0004 a0009 a0001 a0004 a0009	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0004c0006 a0009c0011	a0001c0001t0005 a0001c0002t0002 a0001c0002t0008 others(10): Show a0001c0001t0005 a0001c0002t0002 a0001c0002t0008 a0001c0002t0010 a0001c0002t0016 a0001c0002t0017 a0001c0002t0056 a0001c0002t0057 a0001c0003t0003 a0001c0003t0021 a0001c0003t0022 a0004c0006t0002 a0009c0011t0008	a0001c0001t0005g0002 a0001c0002t0002g0003 a0001c0002t0008g0003 others(12): Show a0001c0001t0005g0002 a0001c0002t0002g0003 a0001c0002t0008g0003 a0001c0002t0008g0008 a0001c0002t0010g0003 a0001c0002t0016g0003 a0001c0002t0017g0003 a0001c0002t0056g0003 a0001c0002t0057g0003 a0001c0003t0003g0004 a0001c0003t0003g0019 a0001c0003t0021g0004 a0001c0003t0022g0004 a0004c0006t0002g0003 a0009c0011t0008g0008	38	452	0.0841	14	c.12 others(27): Show c.12546_*12547insTGTGTGTGTGTGTG	ALG10B	ENSG00000175548.9	transcript	ENST00000308742.9	protein_coding		4039		chr12	TogoVar
ALG10_chr12_34017496_34033302	34029736	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG02486.hp2 HG04115.hp2 HG00738.hp2 HG02486.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	3	332	0.0090	14	c.28 others(25): Show c.2821_*2822insTTTTTTTTTTTTTT	ALG10	ENSG00000139133.7	transcript	ENST00000266483.7	protein_coding		1435		chr12	TogoVar
ALG12_chr22_49895229_49923438	49902439	C C	CTGTGTAT others(7): Show CTGTGTATGCATGGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02280.hp2 HG02886.hp1 HG02280.hp2 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0049 a0001c0002t0027g0049	2	348	0.0058	14	c.13 others(25): Show c.1398_*1399insACCATGCATACACA	ALG12	ENSG00000182858.14	transcript	ENST00000330817.11	protein_coding	10/10	1398		chr22	TogoVar
ALG12_chr22_49895229_49923438	49923336	T T	TCTGCACT others(7): Show TCTGCACTCCGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp2 others(113): Show HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp2 HG00597.hp2 HG00642.hp1 HG00741.hp1 HG01074.hp2 HG01106.hp1 HG01123.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01975.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG03927.hp2 HG03942.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18939.hp2 NA18940.hp1 NA18943.hp1 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18952.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18971.hp2 NA18974.hp2 NA18980.hp2 NA18982.hp2 NA18989.hp2 NA18990.hp2 NA18994.hp2 NA19004.hp1 NA19007.hp2 NA19009.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19057.hp2 NA19065.hp1 NA19067.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0007	a0001c0001 a0001c0002 a0001c0004 others(7): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008 a0002c0003 a0003c0006 a0004c0009 a0005c0014 a0007c0017	a0001c0001t0002 a0001c0002t0003 a0001c0002t0006 others(33): Show a0001c0001t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0016 a0001c0002t0026 a0001c0002t0029 a0001c0002t0031 a0001c0002t0033 a0001c0002t0035 a0001c0002t0036 a0001c0002t0037 a0001c0002t0064 a0001c0002t0065 a0001c0002t0072 a0001c0004t0009 a0001c0004t0019 a0001c0004t0022 a0001c0004t0032 a0001c0005t0013 a0001c0005t0020 a0001c0005t0021 a0001c0005t0034 a0001c0008t0024 a0002c0003t0004 a0002c0003t0014 a0002c0003t0017 a0002c0003t0038 a0002c0003t0039 a0002c0003t0040 a0002c0003t0063 a0003c0006t0006 a0004c0009t0023 a0005c0014t0013 a0007c0017t0007	a0001c0001t0002g0002 a0001c0002t0003g0009 a0001c0002t0003g0021 others(75): Show a0001c0001t0002g0002 a0001c0002t0003g0009 a0001c0002t0003g0021 a0001c0002t0003g0022 a0001c0002t0003g0026 a0001c0002t0003g0063 a0001c0002t0003g0064 a0001c0002t0003g0066 a0001c0002t0003g0067 a0001c0002t0003g0068 a0001c0002t0003g0072 a0001c0002t0003g0081 a0001c0002t0003g0091 a0001c0002t0003g0092 a0001c0002t0003g0093 a0001c0002t0006g0044 a0001c0002t0007g0008 a0001c0002t0007g0077 a0001c0002t0007g0079 a0001c0002t0007g0084 a0001c0002t0008g0013 a0001c0002t0008g0065 a0001c0002t0008g0073 a0001c0002t0008g0078 a0001c0002t0008g0085 a0001c0002t0016g0023 a0001c0002t0016g0083 a0001c0002t0026g0041 a0001c0002t0029g0074 a0001c0002t0031g0070 a0001c0002t0033g0075 a0001c0002t0035g0069 a0001c0002t0036g0082 a0001c0002t0037g0076 a0001c0002t0064g0172 a0001c0002t0065g0173 a0001c0002t0072g0174 a0001c0004t0009g0016 a0001c0004t0009g0094 a0001c0004t0009g0095 a0001c0004t0009g0096 a0001c0004t0019g0028 a0001c0004t0022g0027 a0001c0004t0032g0097 a0001c0005t0013g0086 a0001c0005t0013g0087 a0001c0005t0013g0088 a0001c0005t0020g0024 a0001c0005t0021g0025 a0001c0005t0034g0089 a0001c0008t0024g0170 a0001c0008t0024g0171 a0002c0003t0004g0007 a0002c0003t0004g0012 a0002c0003t0004g0054 a0002c0003t0004g0056 a0002c0003t0004g0058 a0002c0003t0004g0059 a0002c0003t0004g0061 a0002c0003t0004g0062 a0002c0003t0014g0020 a0002c0003t0014g0053 a0002c0003t0014g0060 a0002c0003t0017g0015 a0002c0003t0038g0057 a0002c0003t0039g0055 a0002c0003t0040g0051 a0002c0003t0063g0183 a0003c0006t0006g0042 a0003c0006t0006g0043 a0003c0006t0006g0175 a0003c0006t0006g0176 a0003c0006t0006g0177 a0003c0006t0006g0180 a0004c0009t0023g0178 a0004c0009t0023g0179 a0005c0014t0013g0090 a0007c0017t0007g0080	116	348	0.3333	14	c.-51 others(25): Show c.-5166_-5153dupGCCCCGGAGTGCAG	ALG12	ENSG00000182858.14	transcript	ENST00000330817.11	protein_coding		4899		chr22	TogoVar
ALG14_chr1_94969405_95077951	95074346	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0003 a0001c0001t0068g0003	1	388	0.0026	14	c.-14 others(25): Show c.-1449_-1448insAAAAAAAAAAAAAA	ALG14	ENSG00000172339.10	transcript	ENST00000370205.6	protein_coding		1396		chr1	TogoVar
ALG1L2_chr3_130076831_130103390	130080282	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00597.hp2 others(11): Show HG00423.hp2 HG00438.hp1 HG00597.hp2 HG01175.hp2 HG01255.hp2 HG01346.hp2 HG01433.hp2 HG02602.hp1 NA18943.hp1 NA18967.hp2 NA18970.hp2 NA18998.hp2 NA19072.hp2 NA19079.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0014 a0002c0002 others(1): Show a0001c0001 a0001c0014 a0002c0002 a0004c0010	a0001c0001t0001 a0001c0014t0001 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0014t0001 a0002c0002t0001 a0004c0010t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 others(11): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0106 a0001c0001t0001g0123 a0001c0001t0001g0133 a0001c0001t0001g0151 a0001c0014t0001g0003 a0002c0002t0001g0008 a0004c0010t0001g0025	14	261	0.0536	14	c.-17 others(25): Show c.-1735_-1734insTTTTTTTTTTTTTT	ALG1L2	ENSG00000251287.9	transcript	ENST00000425059.1	protein_coding		1548		chr3	TogoVar
ALG1L2_chr3_130076831_130103390	130081179	T T	TACAGGCT others(7): Show TACAGGCTGTGCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0005 a0005c0009t0005	a0005c0009t0005g0046 a0005c0009t0005g0046	1	261	0.0038	14	c.-83 others(23): Show c.-838_-837insACAGGCTGTGCACA	ALG1L2	ENSG00000251287.9	transcript	ENST00000425059.1	protein_coding		651		chr3	TogoVar
ALG6_chr1_63362627_63443553	63422434	T T	TATATATA others(7): Show TATATATAAGTATAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0325 a0001c0004t0006g0325	1	388	0.0026	14	c.105 others(33): Show c.1058+3001_1058+3002insAGTATAAATATATA	ALG6	ENSG00000088035.18	transcript	ENST00000263440.6	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
ALG8_chr11_78095946_78144626	78143317	A A	AACACACA others(7): Show AACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00558.hp1 HG00558.hp2 others(19): Show HG00323.hp1 HG00558.hp1 HG00558.hp2 HG01070.hp2 HG01261.hp2 HG01975.hp2 HG01993.hp1 HG02165.hp1 HG02273.hp1 HG02486.hp2 HG02559.hp2 HG03017.hp1 HG03704.hp1 HG04115.hp1 NA18940.hp2 NA18944.hp1 NA18952.hp2 NA18963.hp1 NA18974.hp2 NA19072.hp1 NA19077.hp1 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0027 others(18): Show a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0027 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0270 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0297 a0001c0001t0001g0299 a0002c0002t0001g0190 a0002c0002t0001g0345 a0002c0002t0001g0346	22	402	0.0547	14	c.-37 others(25): Show c.-3730_-3729insGTGTGTGTGTGTGT	ALG8	ENSG00000159063.14	transcript	ENST00000299626.10	protein_coding		3692		chr11	TogoVar
ALG9_chr11_111777195_111876581	111850706	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02723.hp2 HG02976.hp1 others(3): Show HG02258.hp1 HG02723.hp2 HG02976.hp1 HG02976.hp2 NA19043.hp1 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0006 a0001c0001t0016 a0003c0003t0004 others(1): Show a0001c0001t0006 a0001c0001t0016 a0003c0003t0004 a0003c0003t0026	a0001c0001t0006g0143 a0001c0001t0006g0144 a0001c0001t0006g0145 others(3): Show a0001c0001t0006g0143 a0001c0001t0006g0144 a0001c0001t0006g0145 a0001c0001t0016g0128 a0003c0003t0004g0122 a0003c0003t0026g0141	6	314	0.0191	14	c.895 others(31): Show c.895+2660_895+2673dupTTTTTTTTTTTTTT	ALG9	ENSG00000086848.15	transcript	ENST00000616540.5	protein_coding	8/14			chr11	TogoVar
ALKBH4_chr7_102451238_102469863	102467169	G G	GGTGTGTG others(7): Show GGTGTGTGTGTATGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00642.hp1 HG03834.hp1 others(4): Show HG00280.hp2 HG00642.hp1 HG03834.hp1 NA18952.hp2 NA18974.hp2 NA19089.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0050 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0050 a0001c0001t0001g0061	7	404	0.0173	14	c.-23 others(25): Show c.-2334_-2333insACATACACACACAC	ALKBH4	ENSG00000160993.4	transcript	ENST00000292566.4	protein_coding		2307		chr7	TogoVar
ALK_chr2_29187774_29926586	29396836	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0064 a0002c0007t0001g0064	1	80	0.0125	14	c.115 others(35): Show c.1155-12991_1155-12978dupAAAAAAAAAAAAAA	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	4/28			chr2	TogoVar
ALK_chr2_29187774_29926586	29494843	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0021 a0001c0004t0001g0021	1	80	0.0125	14	c.115 others(35): Show c.1154+37058_1154+37071dupACACACACACACAC	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	4/28			chr2	TogoVar
ALK_chr2_29187774_29926586	29637709	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0048 a0003c0005t0002g0048	1	80	0.0125	14	c.952 others(33): Show c.952+57140_952+57141insTTTTTTTTTTTTTT	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	3/28			chr2	TogoVar
ALK_chr2_29187774_29926586	29768713	C C	CTATGTGT others(7): Show CTATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0050 a0001c0050	a0001c0050t0014 a0001c0050t0014	a0001c0050t0014g0078 a0001c0050t0014g0078	1	80	0.0125	14	c.668 others(33): Show c.668-51017_668-51016insCACACACACACATA	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/28			chr2	TogoVar
ALK_chr2_29187774_29926586	29789015	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01884.hp2 HG02004.hp1 others(3): Show HG01433.hp1 HG01884.hp2 HG02004.hp1 HG02257.hp2 HG02451.hp2 HG03540.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0027 a0001c0035 a0002c0001 others(3): Show a0001c0027 a0001c0035 a0002c0001 a0002c0007 a0003c0024 a0004c0032	a0001c0027t0001 a0001c0035t0001 a0002c0001t0001 others(3): Show a0001c0027t0001 a0001c0035t0001 a0002c0001t0001 a0002c0007t0001 a0003c0024t0009 a0004c0032t0003	a0001c0027t0001g0013 a0001c0035t0001g0068 a0002c0001t0001g0033 others(3): Show a0001c0027t0001g0013 a0001c0035t0001g0068 a0002c0001t0001g0033 a0002c0007t0001g0066 a0003c0024t0009g0075 a0004c0032t0003g0052	6	80	0.0750	14	c.668 others(33): Show c.668-71332_668-71319dupCACACACACACACA	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/28			chr2	TogoVar
ALK_chr2_29187774_29926586	29909480	C C	CAGAGAGA others(7): Show CAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0047 a0002c0047	a0002c0047t0001 a0002c0047t0001	a0002c0047t0001g0055 a0002c0047t0001g0055	1	80	0.0125	14	c.667 others(33): Show c.667+10499_667+10512dupCTCTCTCTCTCTCT	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/28			chr2	TogoVar
ALMS1_chr2_73380836_73614916	73414474	T T	TTTTTTTT others(7): Show TTTTTTTTTTTTTGG	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	248	0.0040	14	c.451 others(31): Show c.451-4637_451-4636insGGTTTTTTTTTTTT	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73414479	T T	TTTTTTTT others(7): Show TTTTTTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show HG00735.hp1 HG02451.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG03041.hp2 HG03195.hp2	a0008 a0027 a0028 a0008 a0027 a0028	a0008c0008 a0027c0032 a0028c0033 a0008c0008 a0027c0032 a0028c0033	a0008c0008t0001 a0027c0032t0001 a0028c0033t0001 a0008c0008t0001 a0027c0032t0001 a0028c0033t0001	a0008c0008t0001g0231 a0008c0008t0001g0232 a0008c0008t0001g0233 others(5): Show a0008c0008t0001g0231 a0008c0008t0001g0232 a0008c0008t0001g0233 a0008c0008t0001g0234 a0008c0008t0001g0235 a0008c0008t0001g0237 a0027c0032t0001g0236 a0028c0033t0001g0238	8	248	0.0323	14	c.451 others(31): Show c.451-4636_451-4635insGTTTTGTTTTTTTT	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73474407	G G	GTGTGTGT others(7): Show GTGTGTGTCTGTGTC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01928.hp2 HG02895.hp1 others(7): Show HG00735.hp1 HG01928.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03195.hp2 HG03540.hp2	a0005 a0008 a0027 a0005 a0008 a0027	a0005c0005 a0008c0008 a0027c0032 a0005c0005 a0008c0008 a0027c0032	a0005c0005t0001 a0008c0008t0001 a0027c0032t0001 a0005c0005t0001 a0008c0008t0001 a0027c0032t0001	a0005c0005t0001g0107 a0005c0005t0001g0115 a0005c0005t0001g0116 others(7): Show a0005c0005t0001g0107 a0005c0005t0001g0115 a0005c0005t0001g0116 a0008c0008t0001g0231 a0008c0008t0001g0232 a0008c0008t0001g0233 a0008c0008t0001g0234 a0008c0008t0001g0235 a0008c0008t0001g0237 a0027c0032t0001g0236	10	248	0.0403	14	c.767 others(35): Show c.7675-15224_7675-15223insGTGTCTGTGTCTGT	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73517246	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp1 HG00738.hp1 others(33): Show HG00099.hp2 HG00735.hp1 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01109.hp2 HG01243.hp1 HG01257.hp1 HG01346.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp2 HG02004.hp1 HG02071.hp2 HG02451.hp2 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03688.hp2 HG04199.hp2 HG06807.hp1 NA18947.hp2 NA19030.hp2 NA20300.hp2	a0002 a0003 a0004 others(9): Show a0002 a0003 a0004 a0005 a0008 a0018 a0019 a0024 a0025 a0027 a0028 a0032	a0002c0004 a0002c0011 a0002c0023 others(13): Show a0002c0004 a0002c0011 a0002c0023 a0002c0047 a0003c0002 a0004c0003 a0004c0053 a0005c0005 a0008c0008 a0018c0025 a0019c0018 a0024c0030 a0025c0031 a0027c0032 a0028c0033 a0032c0046	a0002c0004t0001 a0002c0011t0001 a0002c0023t0001 others(13): Show a0002c0004t0001 a0002c0011t0001 a0002c0023t0001 a0002c0047t0001 a0003c0002t0001 a0004c0003t0002 a0004c0053t0002 a0005c0005t0001 a0008c0008t0001 a0018c0025t0001 a0019c0018t0001 a0024c0030t0001 a0025c0031t0001 a0027c0032t0001 a0028c0033t0001 a0032c0046t0001	a0002c0004t0001g0034 a0002c0004t0001g0035 a0002c0004t0001g0036 others(33): Show a0002c0004t0001g0034 a0002c0004t0001g0035 a0002c0004t0001g0036 a0002c0004t0001g0037 a0002c0004t0001g0046 a0002c0004t0001g0048 a0002c0011t0001g0004 a0002c0023t0001g0195 a0002c0047t0001g0047 a0003c0002t0001g0013 a0003c0002t0001g0015 a0004c0003t0002g0064 a0004c0003t0002g0065 a0004c0003t0002g0066 a0004c0003t0002g0067 a0004c0003t0002g0078 a0004c0003t0002g0083 a0004c0003t0002g0084 a0004c0003t0002g0085 a0004c0003t0002g0086 a0004c0003t0002g0091 a0004c0053t0002g0050 a0005c0005t0001g0116 a0008c0008t0001g0231 a0008c0008t0001g0232 a0008c0008t0001g0234 a0008c0008t0001g0235 a0008c0008t0001g0237 a0018c0025t0001g0053 a0018c0025t0001g0054 a0019c0018t0001g0057 a0024c0030t0001g0227 a0025c0031t0001g0226 a0027c0032t0001g0236 a0028c0033t0001g0238 a0032c0046t0001g0230	36	248	0.1452	14	c.954 others(33): Show c.9540-2525_9540-2512dupTTTTTTTTTTTTTT	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	10/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73568995	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA19009.hp2 HG00621.hp2 NA19009.hp2	a0003 a0010 a0003 a0010	a0003c0002 a0010c0009 a0003c0002 a0010c0009	a0003c0002t0001 a0010c0009t0001 a0003c0002t0001 a0010c0009t0001	a0003c0002t0001g0093 a0010c0009t0001g0187 a0003c0002t0001g0093 a0010c0009t0001g0187	2	248	0.0081	14	c.103 others(35): Show c.10385-3243_10385-3230dupTTTTTTTTTTTTTT	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	15/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73579063	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18941.hp2 NA18990.hp2 others(1): Show HG00621.hp2 NA18941.hp2 NA18990.hp2 NA19089.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0011 a0003c0002t0001g0012 a0003c0002t0001g0021 others(1): Show a0003c0002t0001g0011 a0003c0002t0001g0012 a0003c0002t0001g0021 a0003c0002t0001g0093	4	248	0.0161	14	c.115 others(35): Show c.11547+5646_11547+5647insTTTTTTTTTTTTTT	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALOX12_chr17_6991049_7015754	7006059	C C	CGGGGGGG others(7): Show CGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG03927.hp2 NA18952.hp2 HG01081.hp1 HG03927.hp2 NA18952.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0034 a0002c0002t0001g0095 a0002c0002t0001g0034 a0002c0002t0001g0095	3	404	0.0074	14	c.141 others(29): Show c.1418+32_1418+33insGGGGGGGGGGGGGG	ALOX12	ENSG00000108839.12	transcript	ENST00000251535.11	protein_coding	10/13			chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8040601	G G	GAGAGAGA others(7): Show GAGAGAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 NA18956.hp1 HG01361.hp1 NA18956.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0010 a0001c0008t0001 a0001c0008t0010	a0001c0008t0001g0241 a0001c0008t0010g0240 a0001c0008t0001g0241 a0001c0008t0010g0240	2	470	0.0043	14	c.449 others(29): Show c.449+621_449+622insGAGAGAAAGAAAGA	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8050306	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01109.hp2 HG02074.hp2 others(14): Show HG01106.hp1 HG01109.hp2 HG02074.hp2 HG02145.hp1 HG02717.hp1 HG02970.hp2 HG03492.hp2 HG03688.hp1 HG03927.hp2 HG04184.hp1 NA18988.hp1 NA18992.hp2 NA19006.hp2 NA19007.hp1 NA19059.hp1 NA19060.hp2 NA19068.hp1	a0001 a0003 a0016 a0001 a0003 a0016	a0001c0001 a0003c0004 a0016c0050 a0001c0001 a0003c0004 a0016c0050	a0001c0001t0001 a0003c0004t0001 a0003c0004t0002 others(2): Show a0001c0001t0001 a0003c0004t0001 a0003c0004t0002 a0003c0004t0005 a0016c0050t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0003c0004t0001g0150 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0003c0004t0001g0150 a0003c0004t0001g0192 a0003c0004t0001g0204 a0003c0004t0001g0206 a0003c0004t0001g0260 a0003c0004t0001g0264 a0003c0004t0002g0061 a0003c0004t0002g0149 a0003c0004t0002g0193 a0003c0004t0002g0262 a0003c0004t0002g0266 a0003c0004t0005g0205 a0003c0004t0005g0275 a0016c0050t0002g0208	17	470	0.0362	14	c.17 others(25): Show c.1741_*1742insAAAAAAAAAAAAAA	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding		1173		chr17	TogoVar
ALOX5AP_chr13_30730543_30769426	30730751	C C	CCTGCACA others(7): Show CCTGCACAGCTCCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG01928.hp2 HG01952.hp2 others(3): Show HG01346.hp1 HG01928.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0012 a0001c0001t0001g0162 a0001c0001t0001g0163	6	422	0.0142	14	c.-48 others(25): Show c.-4855_-4854insCTGCACAGCTCCTA	ALOX5AP	ENSG00000132965.10	transcript	ENST00000380490.5	protein_coding		4791		chr13	TogoVar
ALOX5AP_chr13_30730543_30769426	30754245	G G	GAGAGAGA others(7): Show GAGAGAGAAAGCTGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(190): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01074.hp2 HG01123.hp1 HG01123.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02040.hp1 HG02055.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp2 NA18944.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18974.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18981.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18989.hp1 NA18993.hp2 NA18994.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp2 NA19006.hp2 NA19011.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19058.hp1 NA19060.hp2 NA19066.hp1 NA19067.hp1 NA19070.hp2 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(137): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0219 a0001c0001t0001g0233 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0304 a0001c0001t0002g0013 a0001c0001t0002g0017 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0055 a0001c0001t0002g0106 a0001c0001t0002g0117 a0001c0001t0002g0158 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0204 a0001c0001t0002g0242 a0001c0001t0004g0085 a0001c0002t0001g0007	193	422	0.4574	14	c.242 others(31): Show c.242-1697_242-1696insAGAGAAAGCTGAAG	ALOX5AP	ENSG00000132965.10	transcript	ENST00000380490.5	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr13	TogoVar
ALOXE3_chr17_8090900_8123514	8107965	G G	GAAAGAAA others(7): Show GAAAGAAAGGAAAGA	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0208 a0001c0002t0001g0208	1	422	0.0024	14	c.168 others(31): Show c.1684+502_1684+503insTCTTTCCTTTCTTT	ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15			chr17	TogoVar
ALPK2_chr18_58476247_58634091	58478633	T T	TATATATA others(7): Show TATATATATACATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 NA18906.hp2 HG02970.hp2 NA18906.hp2	a0008 a0049 a0008 a0049	a0008c0041 a0049c0051 a0008c0041 a0049c0051	a0008c0041t0001 a0049c0051t0001 a0008c0041t0001 a0049c0051t0001	a0008c0041t0001g0136 a0049c0051t0001g0157 a0008c0041t0001g0136 a0049c0051t0001g0157	2	320	0.0063	14	c.31 others(25): Show c.3189_*3190insGTATGTATATATAT	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding		2613		chr18	TogoVar
ALPK2_chr18_58476247_58634091	58492146	G G	GACACACA others(7): Show GACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0024 a0024	a0024c0025 a0024c0025	a0024c0025t0010 a0024c0025t0010	a0024c0025t0010g0110 a0024c0025t0010g0110	1	320	0.0031	14	c.629 others(33): Show c.6296+5889_6296+5902dupGTGTGTGTGTGTGT	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	12/12			chr18	TogoVar

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