Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ALG1_chr16_5066843_5092379	5080381	A A	AATACCTT others(26): Show AATACCTTATAGCTCTCTTTTTGTTTATGTGCCT	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0003 a0009c0016t0003	a0009c0016t0003g0096 a0009c0016t0003g0096	1	444	0.0023	33	c.962 others(48): Show c.962-564_962-563insTACCTTATAGCTCTCTTTTTGTTTATGTGC CTA	ALG1	ENSG00000033011.14	transcript	ENST00000262374.10	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
ALOX15B_chr17_8034059_8054134	8049283	T T	TAAAAAAA others(26): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0022 a0022	a0022c0042 a0022c0042	a0022c0042t0002 a0022c0042t0002	a0022c0042t0002g0112 a0022c0042t0002g0112	1	470	0.0021	33	c.71 others(42): Show c.718_*719insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding		150		chr17	TogoVar
ALPL_chr1_21504423_21583410	21561666	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0157 a0002c0002t0005g0157	1	370	0.0027	33	c.297 others(48): Show c.297+474_297+475insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	ALPL	ENSG00000162551.14	transcript	ENST00000374840.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ALPP_chr2_232373751_232387889	232385077	G G	GGAAGAAG others(26): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG02145.hp2 HG02293.hp2 others(6): Show HG01074.hp1 HG02145.hp2 HG02293.hp2 HG02896.hp1 HG03098.hp2 NA18947.hp1 NA18983.hp2 NA19077.hp1 NA19079.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0015	a0001c0001 a0002c0002 a0004c0004 others(1): Show a0001c0001 a0002c0002 a0004c0004 a0015c0031	a0001c0001t0001 a0002c0002t0001 a0004c0004t0008 others(1): Show a0001c0001t0001 a0002c0002t0001 a0004c0004t0008 a0015c0031t0001	a0001c0001t0001g0001 a0001c0001t0001g0012 a0002c0002t0001g0008 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0002c0002t0001g0008 a0004c0004t0008g0002 a0015c0031t0001g0025	9	410	0.0220	33	c.32 others(44): Show c.3282_*3283insGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2189		chr2	TogoVar
ALPP_chr2_232373751_232387889	232385115	A A	AAGAAGAA others(26): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0002 a0002	a0002c0029 a0002c0029	a0002c0029t0001 a0002c0029t0001	a0002c0029t0001g0007 a0002c0029t0001g0007	1	410	0.0024	33	c.33 others(44): Show c.3320_*3321insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGG	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2227		chr2	TogoVar
ALPP_chr2_232373751_232387889	232385115	A A	AAGAAGAA others(26): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG03710.hp1 HG01515.hp2 HG03710.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0001 a0004c0004t0001g0002 a0001c0001t0001g0001 a0004c0004t0001g0002	2	410	0.0049	33	c.33 others(44): Show c.3320_*3321insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAGG	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2227		chr2	TogoVar
ALPP_chr2_232373751_232387889	232385115	A A	AAGAAGAA others(26): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGGAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01884.hp1 HG01975.hp1 others(3): Show HG01070.hp2 HG01884.hp1 HG01975.hp1 HG02723.hp1 HG02922.hp1 HG02922.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0015 a0002c0002t0001g0011 a0001c0001t0001g0001 a0001c0001t0001g0015 a0002c0002t0001g0011	6	410	0.0146	33	c.33 others(44): Show c.3320_*3321insAGAAGAAGAAGAAGAAGAAGAAGAAGGAGGAGG	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2227		chr2	TogoVar
ALPP_chr2_232373751_232387889	232385115	A A	AAGAAGAA others(26): Show AAGAAGAAGAAGAAGAAGAAGAAGGAGGAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	33	c.33 others(44): Show c.3320_*3321insAGAAGAAGAAGAAGAAGAAGAAGGAGGAGGAGG	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2227		chr2	TogoVar
ALPP_chr2_232373751_232387889	232385115	A A	AAGAAGAA others(26): Show AAGAAGAAGAAGAAGAAGAAGGAGGAGGAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 NA18995.hp1 HG00558.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	410	0.0049	33	c.33 others(44): Show c.3320_*3321insAGAAGAAGAAGAAGAAGAAGGAGGAGGAGGAGG	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2227		chr2	TogoVar
ALPP_chr2_232373751_232387889	232385115	A A	AAGAAGAA others(26): Show AAGAAGAAGAAGAAGAAGGAGGAGGAGGAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	33	c.33 others(44): Show c.3320_*3321insAGAAGAAGAAGAAGAAGGAGGAGGAGGAGGAGG	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2227		chr2	TogoVar
ALPP_chr2_232373751_232387889	232385115	A A	AAGAAGAA others(26): Show AAGAAGAAGGAGGAGGAGGAGGAGGAGGAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0001 a0002c0006t0001g0001	1	410	0.0024	33	c.33 others(44): Show c.3320_*3321insAGAAGAAGGAGGAGGAGGAGGAGGAGGAGGAGG	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2227		chr2	TogoVar
AMBRA1_chr11_46391414_46599023	46585695	A A	AAAAATAT others(26): Show AAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0145 a0001c0002t0002g0145	1	160	0.0063	33	c.-12 others(52): Show c.-121+8132_-121+8133insATATATATATATATATATATATATAT ATATTTT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46585695	A A	AAATATAT others(26): Show AAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp2 HG02055.hp1 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0002t0002 a0001c0001t0009 a0001c0002t0002	a0001c0001t0009g0046 a0001c0002t0002g0047 a0001c0001t0009g0046 a0001c0002t0002g0047	2	160	0.0125	33	c.-12 others(52): Show c.-121+8132_-121+8133insATATATATATATATATATATATATAT ATATATT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17			chr11	TogoVar
AMFR_chr16_56356452_56430545	56406121	G G	GAGAGGGG others(26): Show GAGAGGGGGGAGGGGAGAGGGGAGAGAGAAGGGA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02135.hp1 HG03654.hp1 others(3): Show HG00558.hp1 HG02135.hp1 HG03654.hp1 HG03688.hp1 HG04199.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0202 a0001c0001t0010g0203 a0001c0001t0010g0204 others(3): Show a0001c0001t0010g0202 a0001c0001t0010g0203 a0001c0001t0010g0204 a0001c0001t0010g0205 a0001c0001t0010g0206 a0001c0001t0010g0207	6	356	0.0169	33	c.667 others(48): Show c.667-878_667-877insTCCCTTCTCTCTCCCCTCTCCCCTCCCCCC TCT	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMIGO1_chr1_109499178_109514727	109503501	T T	TATATATA others(26): Show TATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	400	0.0025	33	c.39 others(44): Show c.3929_*3930insTATATATATATATATATATATATATATATATAT	AMIGO1	ENSG00000181754.7	transcript	ENST00000369864.5	protein_coding		676		chr1	TogoVar
AMPH_chr7_38378704_38636373	38445041	T T	TACATATA others(26): Show TACATATATACATGGTATATACATATATATATAC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02559.hp2 HG02683.hp2 others(5): Show HG01099.hp2 HG02559.hp2 HG02683.hp2 HG02976.hp1 HG03225.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0009t0006	a0001c0001t0003g0039 a0001c0001t0003g0079 a0001c0001t0003g0122 others(5): Show a0001c0001t0003g0039 a0001c0001t0003g0079 a0001c0001t0003g0122 a0001c0001t0003g0148 a0001c0001t0003g0158 a0001c0001t0004g0054 a0001c0001t0009g0151 a0001c0009t0006g0227	8	288	0.0278	33	c.101 others(52): Show c.1018-8654_1018-8653insGTATATATATATGTATATACCATGTA TATATGT	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	11/20			chr7	TogoVar
AMY1C_chr1_103744898_103763692	103760694	G G	GGAGCTGC others(26): Show GGAGCTGCTTGAGTAAACCTGTCTTTCAAGATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	340	0.0029	33	c.20 others(44): Show c.2036_*2037insGAGCTGCTTGAGTAAACCTGTCTTTCAAGATTA	AMY1C	ENSG00000187733.7	transcript	ENST00000622339.5	protein_coding		2003		chr1	TogoVar
ANAPC16_chr10_72211012_72240860	72218165	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0029 a0001c0001t0003g0029	1	352	0.0028	33	c.-28 others(50): Show c.-28+2028_-28+2029insAAAAAAAAAAAAAAAAAAAAAAAAATAT ATATA	ANAPC16	ENSG00000166295.9	transcript	ENST00000299381.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
ANAPC1_chr2_111762640_111889193	111832937	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0184 a0001c0004t0003g0184	1	370	0.0027	33	c.247 others(50): Show c.2476+282_2476+283insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding	20/47			chr2	TogoVar
ANAPC5_chr12_121303245_121357411	121352712	T T	TTGGTGGT others(26): Show TTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	278	0.0036	33	c.-37 others(42): Show c.-373_-372insCCACCACCACCACCACCACCACCACCACCACCA	ANAPC5	ENSG00000089053.13	transcript	ENST00000261819.8	protein_coding		302		chr12	TogoVar
ANAPC5_chr12_121303245_121357411	121352715	T T	TTGGTGGT others(26): Show TTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG01123.hp2 HG02723.hp1 others(4): Show HG00673.hp1 HG01123.hp2 HG02723.hp1 HG03491.hp1 HG03492.hp2 HG03831.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0021 others(3): Show a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0175 a0001c0001t0001g0192 a0001c0001t0001g0224	7	278	0.0252	33	c.-37 others(42): Show c.-376_-375insCCACCACCACCACCACCACCACCACCACCACCA	ANAPC5	ENSG00000089053.13	transcript	ENST00000261819.8	protein_coding		305		chr12	TogoVar
ANAPC5_chr12_121303245_121357411	121352718	T T	TTGGTGGT others(26): Show TTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	278	0.0036	33	c.-37 others(42): Show c.-379_-378insCCACCACCACCACCACCACCACCACCACCACCA	ANAPC5	ENSG00000089053.13	transcript	ENST00000261819.8	protein_coding		308		chr12	TogoVar
ANAPC5_chr12_121303245_121357411	121352718	T T	TTGTTGTT others(26): Show TTGTTGTTGTTGGTGGTGGTGGTGGTGGTGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	278	0.0036	33	c.-37 others(42): Show c.-379_-378insCCACCACCACCACCACCACCACCAACAACAACA	ANAPC5	ENSG00000089053.13	transcript	ENST00000261819.8	protein_coding		308		chr12	TogoVar
ANAPC5_chr12_121303245_121357411	121352718	T T	TTGTTGTT others(26): Show TTGTTGTTGTTGTTGGTGGTGGTGGTGGTGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	278	0.0036	33	c.-37 others(42): Show c.-379_-378insCCACCACCACCACCACCACCAACAACAACAACA	ANAPC5	ENSG00000089053.13	transcript	ENST00000261819.8	protein_coding		308		chr12	TogoVar
ANAPC7_chr12_110367900_110408708	110392090	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0274 a0001c0003t0001g0274	1	298	0.0034	33	c.408 others(50): Show c.408+3010_408+3011insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	ANAPC7	ENSG00000196510.14	transcript	ENST00000455511.9	protein_coding	3/10			chr12	TogoVar
ANGEL2_chr1_212987182_213020867	212996640	A A	AAAAAAAT others(26): Show AAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18947.hp2 NA19091.hp1 HG00558.hp1 NA18947.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0034 a0001c0001t0004g0146 a0001c0001t0004g0034 a0001c0001t0004g0146	3	392	0.0077	33	c.148 others(50): Show c.1483+514_1483+515insATATATATATATATATATATATATATAT TTTTT	ANGEL2	ENSG00000174606.14	transcript	ENST00000366962.8	protein_coding	8/8			chr1	TogoVar
ANGPT1_chr8_107244482_107502918	107370338	G G	GAAAGAAA others(26): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01123.hp1 HG01256.hp1 others(1): Show HG00735.hp1 HG01123.hp1 HG01256.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0147 others(1): Show a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0147 a0001c0001t0017g0002	4	292	0.0137	33	c.298 others(52): Show c.298-23242_298-23241insTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTT	ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	1/8			chr8	TogoVar
ANGPT1_chr8_107244482_107502918	107370340	A A	AAGAAAGA others(26): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAAG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01496.hp1 HG01081.hp2 HG01496.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0003 a0004c0004t0003 a0001c0001t0003 a0004c0004t0003	a0001c0001t0003g0046 a0004c0004t0003g0050 a0001c0001t0003g0046 a0004c0004t0003g0050	2	292	0.0069	33	c.298 others(52): Show c.298-23244_298-23243insCTTTTTTCTTTCTTTCTTTCTTTCTT TCTTTCT	ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	1/8			chr8	TogoVar
ANGPT2_chr8_6494632_6568245	6505239	A A	AATATATA others(26): Show AATATATATATATATTCTTATGTATATATAGAAT	intron_variant intron_variant	MODIFIER	HG03654.hp2 NA19084.hp1 HG03654.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0002 a0001c0008t0002 a0001c0001t0002 a0001c0008t0002	a0001c0001t0002g0152 a0001c0008t0002g0100 a0001c0001t0002g0152 a0001c0008t0002g0100	2	336	0.0060	33	c.132 others(52): Show c.1328-1979_1328-1978insATTCTATATATACATAAGAATATATA TATATAT	ANGPT2	ENSG00000091879.14	transcript	ENST00000629816.3	protein_coding	8/8			chr8	TogoVar
ANGPT2_chr8_6494632_6568245	6505770	T T	TATATTCT others(26): Show TATATTCTTTATATATGTATATATAAAAACATGC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0301 a0001c0001t0061g0301	1	336	0.0030	33	c.132 others(52): Show c.1328-2542_1328-2510dupGCATGTTTTTATATATACATATATAA AGAATAT	ANGPT2	ENSG00000091879.14	transcript	ENST00000629816.3	protein_coding	8/8			chr8	TogoVar
ANGPT2_chr8_6494632_6568245	6562552	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02145.hp2 HG01952.hp1 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0018 a0001c0006t0005 a0001c0002t0018 a0001c0006t0005	a0001c0002t0018g0254 a0001c0006t0005g0253 a0001c0002t0018g0254 a0001c0006t0005g0253	2	336	0.0060	33	c.288 others(46): Show c.288+94_288+95insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	ANGPT2	ENSG00000091879.14	transcript	ENST00000629816.3	protein_coding	1/8			chr8	TogoVar
ANGPTL5_chr11_101885674_101921522	101889442	A A	AGAAAGAA others(26): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0301 a0001c0011t0001g0301	1	422	0.0024	33	c.18 others(44): Show c.1836_*1837insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	ANGPTL5	ENSG00000187151.7	transcript	ENST00000334289.7	protein_coding		1231		chr11	TogoVar
ANGPTL6_chr19_10087338_10107678	10100880	C C	CGCCTGTA others(26): Show CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA19084.hp1 NA18994.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0111 a0001c0001t0001g0112	2	462	0.0043	33	c.-11 others(50): Show c.-11+1655_-11+1687dupACCTCGGCCTCCCAAAGTGCTGGGATTA CAGGC	ANGPTL6	ENSG00000130812.11	transcript	ENST00000253109.5	protein_coding	1/5			chr19	TogoVar
ANK1_chr8_41648225_41802622	41703450	A A	ATATATAT others(26): Show ATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0038 a0002c0007t0001g0038	1	278	0.0036	33	c.229 others(50): Show c.2295+590_2295+591insAAAAAAAAAAAAAAATATATATATATAT ATATA	ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding	20/42			chr8	TogoVar
ANK2_chr4_113044653_113388736	113064718	T T	TTGTTAGA others(26): Show TTGTTAGAAAGTTCTGTAGAACTTCTAACAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01346.hp2 HG01975.hp2 others(9): Show HG01175.hp1 HG01346.hp2 HG01975.hp2 HG02109.hp1 HG02109.hp2 HG02647.hp2 HG02922.hp2 HG03453.hp1 HG03471.hp2 HG03688.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0003 others(3): Show a0001c0001 a0002c0002 a0002c0003 a0003c0006 a0003c0024 a0003c0034	a0001c0001t0001 a0002c0002t0001 a0002c0003t0001 others(3): Show a0001c0001t0001 a0002c0002t0001 a0002c0003t0001 a0003c0006t0002 a0003c0024t0001 a0003c0034t0001	a0001c0001t0001g0031 a0001c0001t0001g0055 a0001c0001t0001g0069 others(9): Show a0001c0001t0001g0031 a0001c0001t0001g0055 a0001c0001t0001g0069 a0001c0001t0001g0097 a0002c0002t0001g0054 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0003t0001g0057 a0002c0003t0001g0060 a0003c0006t0002g0064 a0003c0024t0001g0100 a0003c0034t0001g0056	12	178	0.0674	33	c.84+ others(50): Show c.84+15409_84+15441dupAAGTTCTGTAGAACTTCTAACAAAAATG TTAGA	ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	1/45		INFO_REALIGN_3_PRIME	chr4	TogoVar
ANK2_chr4_113044653_113388736	113072742	A A	ATTTTTTT others(26): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	178	0.0056	33	c.84+ others(50): Show c.84+22953_84+22954insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	1/45		INFO_REALIGN_3_PRIME	chr4	TogoVar
ANK3_chr10_60021298_60394875	60100234	G G	GTTTTTTT others(26): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0001 a0001c0036t0001	a0001c0036t0001g0123 a0001c0036t0001g0123	1	192	0.0052	33	c.332 others(52): Show c.3328+5670_3328+5671insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	28/43			chr10	TogoVar
ANKAR_chr2_189669670_189751647	189729695	C C	CGGTGTGT others(26): Show CGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	296	0.0034	33	c.319 others(50): Show c.3194-799_3194-798insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTG	ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	15/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKAR_chr2_189669670_189751647	189744990	T T	TCTACTAC others(26): Show TCTACTACTACTACTACTACTACTACTACTACTA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01261.hp1 others(11): Show HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01981.hp1 HG02273.hp2 HG02622.hp2 HG02723.hp1 HG02976.hp1 HG03041.hp1 NA18906.hp1 NA18951.hp1 NA18983.hp2 NA19240.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0002 a0001c0001 a0001c0008 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0008t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0008t0001 a0002c0002t0001	a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0079 others(11): Show a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0246 a0001c0001t0002g0207 a0001c0001t0002g0211 a0001c0008t0001g0115 a0001c0008t0001g0116 a0001c0008t0001g0118 a0002c0002t0001g0058 a0002c0002t0001g0060	14	296	0.0473	33	c.405 others(50): Show c.4057+209_4057+241dupCTACTACTACTACTACTACTACTACTAC TACTA	ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKAR_chr2_189669670_189751647	189745027	C C	CTACTACT others(26): Show CTACTACTACTACTAATAATAATAATAATAATAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0288 a0004c0009t0001g0288	1	296	0.0034	33	c.405 others(50): Show c.4057+241_4057+242insCTACTACTACTAATAATAATAATAATAA TAATA	ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKAR_chr2_189669670_189751647	189745027	C C	CTACTACT others(26): Show CTACTACTACTACTACTAATAATAATAATAATAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0284 a0004c0009t0001g0284	1	296	0.0034	33	c.405 others(50): Show c.4057+241_4057+242insCTACTACTACTACTAATAATAATAATAA TAATA	ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKAR_chr2_189669670_189751647	189745027	C C	CTACTACT others(26): Show CTACTACTACTACTACTACTAATAATAATAATAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0287 a0004c0009t0001g0287	1	296	0.0034	33	c.405 others(50): Show c.4057+241_4057+242insCTACTACTACTACTACTAATAATAATAA TAATA	ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKAR_chr2_189669670_189751647	189745027	C C	CTACTACT others(26): Show CTACTACTACTACTACTACTACTAATAATAATAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03834.hp1 NA18939.hp2 HG02486.hp1 HG03834.hp1 NA18939.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0004c0006 a0003c0003 a0004c0006	a0003c0003t0001 a0004c0006t0001 a0003c0003t0001 a0004c0006t0001	a0003c0003t0001g0290 a0003c0003t0001g0295 a0004c0006t0001g0285 a0003c0003t0001g0290 a0003c0003t0001g0295 a0004c0006t0001g0285	3	296	0.0101	33	c.405 others(50): Show c.4057+241_4057+242insCTACTACTACTACTACTACTAATAATAA TAATA	ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKAR_chr2_189669670_189751647	189745027	C C	CTACTACT others(26): Show CTACTACTACTACTACTACTACTACTAATAATAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0289 a0004c0006t0001g0289	1	296	0.0034	33	c.405 others(50): Show c.4057+241_4057+242insCTACTACTACTACTACTACTACTAATAA TAATA	ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKRD10_chr13_110873540_110920069	110892416	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA18957.hp1 HG02486.hp2 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0217 a0001c0001t0001g0186 a0001c0001t0001g0217	2	362	0.0055	33	c.691 others(48): Show c.691+611_691+612insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	ANKRD10	ENSG00000088448.14	transcript	ENST00000267339.6	protein_coding	4/5			chr13	TogoVar
ANKRD11_chr16_89262630_89495561	89415829	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	310	0.0032	33	c.-60 others(50): Show c.-60+2454_-60+2455insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89454591	C C	CGGTTCCT others(26): Show CGGTTCCTCAAGCTGCTCCCCTGGGTGCTTCCAG	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	310	0.0032	33	c.-14 others(54): Show c.-145+35621_-145+35653dupCTGGAAGCACCCAGGGGAGCAGCT TGAGGAACC	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	1/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89454716	G G	GCTTCCAG others(26): Show GCTTCCAGGGTTCCTCAAGCTGCTCCCCTGGGTA	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0173 a0002c0002t0002g0173	1	310	0.0032	33	c.-14 others(54): Show c.-145+35528_-145+35529insTACCCAGGGGAGCAGCTTGAGGAA CCCTGGAAG	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	1/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89454815	G G	GCTTCCAG others(26): Show GCTTCCAGGGTTCCTCAAGCTGCTCCCCTGGGTA	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0173 a0002c0002t0002g0173	1	310	0.0032	33	c.-14 others(54): Show c.-145+35429_-145+35430insTACCCAGGGGAGCAGCTTGAGGAA CCCTGGAAG	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	1/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89454849	T T	TTTCTAGG others(26): Show TTTCTAGGGTTCCTCAAGCTGCTCCCCTGGGTGC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0034 a0003c0003t0001g0034	1	310	0.0032	33	c.-14 others(54): Show c.-145+35363_-145+35395dupGCACCCAGGGGAGCAGCTTGAGGA ACCCTAGAA	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	1/12			chr16	TogoVar

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