Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ASXL3_chr18_33573219_33756195	33601785	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0005 a0005	a0005c0024 a0005c0024	a0005c0024t0007 a0005c0024t0007	a0005c0024t0007g0028 a0005c0024t0007g0028	1	220	0.0046	24	c.55- others(39): Show c.55-5799_55-5798insTATATATATATATATATATATATA		ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr18	TogoVar
ASXL3_chr18_33573219_33756195	33601785	G G	GTTTATAT others(17): Show GTTTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0055 a0006c0010t0055	a0006c0010t0055g0170 a0006c0010t0055g0170	1	220	0.0046	24	c.55- others(39): Show c.55-5808_55-5807insTTATATATATATATATATATATAT		ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr18	TogoVar
ASXL3_chr18_33573219_33756195	33676222	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	220	0.0046	24	c.715 others(41): Show c.715+4358_715+4381dupAAAAAAAAAAAAAAAAAAAAAAAA		ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr18	TogoVar
ASXL3_chr18_33573219_33756195	33730611	T T	TGGCATGG others(17): Show TGGCATGGTGATGTAACTGTACATC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0066 a0003c0003t0066	a0003c0003t0066g0216 a0003c0003t0066g0216	1	220	0.0046	24	c.880 others(41): Show c.880-1356_880-1333dupGGCATGGTGATGTAACTGTACATC		ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	8/11					INFO_REALIGN_3_PRIME	chr18	TogoVar
ASZ1_chr7_117358222_117432493	117379133	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	306	0.0033	24	c.105 others(41): Show c.1055+781_1055+804dupTATATATATATATATATATATATA		ASZ1	ENSG00000154438.8	transcript	ENST00000284629.7	protein_coding	10/12						chr7	TogoVar
ATAD1_chr10_87746512_87823226	87798623	G G	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0026 a0001c0001t0005g0026	1	360	0.0028	24	c.163 others(41): Show c.163-5869_163-5868insACACACACACACACACACACACAC		ATAD1	ENSG00000138138.14	transcript	ENST00000680024.1	protein_coding	2/9						chr10	TogoVar
ATAD1_chr10_87746512_87823226	87798625	G G	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0124 a0001c0001t0002g0124	1	360	0.0028	24	c.163 others(41): Show c.163-5894_163-5871dupACACACACACACACACACACACAC		ATAD1	ENSG00000138138.14	transcript	ENST00000680024.1	protein_coding	2/9						chr10	TogoVar
ATAD2B_chr2_23743664_23932123	23745368	A A	AGAAGGAA others(17): Show AGAAGGAAGGAAGGAAGGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18952.hp2 NA18955.hp1 NA18522.hp1 NA18952.hp2 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0164 a0001c0001t0002g0023 a0001c0001t0002g0074 a0001c0001t0001g0164 a0001c0001t0002g0023 a0001c0001t0002g0074	3	246	0.0122	24	c.66 others(35): Show c.6677_*6678insCTTCCTTCCTTCCTTCCTTCCTTC		ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding					3295		chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23745422	A A	AAGGAAAG others(17): Show AAGGAAAGGGAAGGGAAGGGAAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0225 a0001c0002t0003g0225	1	246	0.0041	24	c.66 others(35): Show c.6623_*6624insCCCTTCCCTTCCCTTCCCTTTCCT		ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding					3241		chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23777348	A A	ATATATCT others(17): Show ATATATCTATATCTATATCTATATC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	246	0.0041	24	c.313 others(43): Show c.3133+5497_3133+5520dupGATATAGATATAGATATAGATATA		ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	22/27						chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23878025	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	246	0.0041	24	c.902 others(41): Show c.902-2122_902-2121insCTTTTTTTTTTTTTTTTTTTTTTT		ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	7/27						chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23878025	A A	AAAAAAAA others(17): Show AAAAAAAAAAGAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0002 a0007c0010t0002	a0007c0010t0002g0083 a0007c0010t0002g0083	1	246	0.0041	24	c.902 others(41): Show c.902-2122_902-2121insCTTTTTTTTTTTTTCTTTTTTTTT		ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	7/27						chr2	TogoVar
ATAD2_chr8_123314850_123401447	123354864	A A	AAAAAAAA others(17): Show AAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02809.hp1 HG02965.hp2 HG02647.hp2 HG02809.hp1 HG02965.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0255 a0002c0003t0001g0257 a0002c0003t0001g0259 a0002c0003t0001g0255 a0002c0003t0001g0257 a0002c0003t0001g0259	3	278	0.0108	24	c.164 others(43): Show c.1646+1524_1646+1525insATATATATATATATATATTTTTTT		ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding	13/27						chr8	TogoVar
ATAD2_chr8_123314850_123401447	123354864	A A	AAAAAATA others(17): Show AAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02976.hp2 HG02896.hp1 HG02976.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0253 a0002c0003t0001g0254 a0002c0003t0001g0253 a0002c0003t0001g0254	2	278	0.0072	24	c.164 others(43): Show c.1646+1524_1646+1525insATATATATATATATATATATTTTT		ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding	13/27						chr8	TogoVar
ATAD2_chr8_123314850_123401447	123377091	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01109.hp2 HG02055.hp2 others(10): Show HG00609.hp1 HG01109.hp2 HG02055.hp2 HG02572.hp1 HG02698.hp1 HG03453.hp2 NA18939.hp2 NA18957.hp2 NA18963.hp2 NA18988.hp1 NA19004.hp1 NA19058.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0243 others(10): Show a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0002g0039 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0106	13	278	0.0468	24	c.320 others(41): Show c.320+3437_320+3438insTTTTTTTTTTTTTTTTTTTTTTTT		ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding	2/27						chr8	TogoVar
ATAD2_chr8_123314850_123401447	123389960	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG03654.hp1 HG00140.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0209 a0001c0001t0002g0150 a0001c0001t0001g0209 a0001c0001t0002g0150	2	278	0.0072	24	c.171 others(41): Show c.171+6203_171+6226dupTATATATATATATATATATATATA		ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding	1/27						chr8	TogoVar
ATAT1_chr6_30621874_30651821	30641106	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18986.hp2 NA19066.hp1 NA18978.hp2 NA18986.hp2 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0032 a0001c0002t0001g0070 a0001c0002t0001g0032 a0001c0002t0001g0070	3	405	0.0074	24	c.652 others(39): Show c.652+504_652+505insCACACACACACACACACACACACA		ATAT1	ENSG00000137343.18	transcript	ENST00000376485.9	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
ATCAY_chr19_3875685_3933082	3897288	A A	AATCTATA others(17): Show AATCTATATCTATATCTATATCTAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	384	0.0026	24	c.78- others(39): Show c.78-5192_78-5169dupATCTATATCTATATCTATATCTAT		ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
ATCAY_chr19_3875685_3933082	3923819	A A	AATGGATG others(17): Show AATGGATGGGTGGGTGGGTGGATGG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	384	0.0026	24	c.110 others(41): Show c.1107-755_1107-732dupGTGGGTGGGTGGATGGATGGATGG		ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding	12/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
ATF2_chr2_175067259_175173203	175110337	A A	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02451.hp1 HG03098.hp1 others(2): Show HG02055.hp2 HG02451.hp1 HG03098.hp1 HG03471.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 others(2): Show a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0202	5	224	0.0223	24	c.828 others(41): Show c.828+1230_828+1231insATTTATTTATTTATTTATTTATTT		ATF2	ENSG00000115966.18	transcript	ENST00000264110.7	protein_coding	10/13						chr2	TogoVar
ATF4_chr22_39515562_39527683	39523993	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	354	0.0028	24	c.13 others(35): Show c.1391_*1392insTTTTTTTTTTTTTTTTTTTTTTTT		ATF4	ENSG00000128272.18	transcript	ENST00000674920.3	protein_coding					1311		chr22	TogoVar
ATF6_chr1_161761320_161969070	161920294	C C	CTCTTTTT others(17): Show CTCTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0151 a0001c0001t0006g0151	1	332	0.0030	24	c.180 others(43): Show c.1804+7915_1804+7916insCTTTTTTTTTTTTTTTTTTTTTTT		ATF6	ENSG00000118217.7	transcript	ENST00000367942.4	protein_coding	15/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
ATF6_chr1_161761320_161969070	161920294	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG03927.hp1 HG04204.hp1 others(3): Show HG00621.hp1 HG03927.hp1 HG04204.hp1 HG04228.hp1 NA18943.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0001c0001t0005 a0001c0001t0006 a0001c0001t0014	a0001c0001t0005g0128 a0001c0001t0005g0133 a0001c0001t0005g0136 others(3): Show a0001c0001t0005g0128 a0001c0001t0005g0133 a0001c0001t0005g0136 a0001c0001t0006g0007 a0001c0001t0006g0149 a0001c0001t0014g0131	6	332	0.0181	24	c.180 others(43): Show c.1804+7932_1804+7933insTTTTTTTTTTTTTTTTTTTTTTTT		ATF6	ENSG00000118217.7	transcript	ENST00000367942.4	protein_coding	15/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
ATF7_chr12_53507054_53631382	53535328	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0145 a0001c0001t0006g0145	1	330	0.0030	24	c.403 others(39): Show c.403-670_403-669insTTTTTTTTTTTTTTTTTTTTTTTT		ATF7	ENSG00000170653.19	transcript	ENST00000420353.7	protein_coding	5/11						chr12	TogoVar
ATF7_chr12_53507054_53631382	53587366	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp1 HG00597.hp2 others(27): Show HG00280.hp1 HG00544.hp1 HG00597.hp2 HG01074.hp1 HG01255.hp1 HG01496.hp1 HG01928.hp1 HG01952.hp2 HG02165.hp2 HG02523.hp2 HG03017.hp1 HG03486.hp2 HG03927.hp1 NA18941.hp2 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18968.hp1 NA18982.hp1 NA18991.hp2 NA18998.hp1 NA18999.hp2 NA19004.hp2 NA19011.hp2 NA19084.hp2 NA19087.hp2 NA19088.hp2 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0012 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0012 a0001c0002t0001 a0001c0003t0008	a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0212 others(27): Show a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0231 a0001c0001t0001g0241 a0001c0001t0001g0247 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0263 a0001c0001t0001g0271 a0001c0001t0001g0275 a0001c0001t0001g0282 a0001c0001t0001g0285 a0001c0001t0001g0288 a0001c0001t0001g0291 a0001c0001t0001g0303 a0001c0001t0001g0306 a0001c0001t0001g0312 a0001c0001t0001g0317 a0001c0001t0012g0284 a0001c0002t0001g0325 a0001c0002t0001g0327 a0001c0003t0008g0227	30	330	0.0909	24	c.48+ others(41): Show c.48+13586_48+13587insTTTTTTTTTTTTTTTTTTTTTTTT		ATF7	ENSG00000170653.19	transcript	ENST00000420353.7	protein_coding	2/11						chr12	TogoVar
ATF7_chr12_53507054_53631382	53587820	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	330	0.0030	24	c.48+ others(41): Show c.48+13109_48+13132dupATATATATATATATATATATATAT		ATF7	ENSG00000170653.19	transcript	ENST00000420353.7	protein_coding	2/11						chr12	TogoVar
ATF7_chr12_53507054_53631382	53587843	A A	ATATATAT others(17): Show ATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0329 a0001c0001t0001g0329	1	330	0.0030	24	c.48+ others(41): Show c.48+13109_48+13110insAATATATATATATATATATATATA		ATF7	ENSG00000170653.19	transcript	ENST00000420353.7	protein_coding	2/11						chr12	TogoVar
ATF7_chr12_53507054_53631382	53587843	A A	ATATATAT others(17): Show ATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03704.hp1 HG02257.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0078 a0001c0001t0001g0047 a0001c0001t0001g0078	2	330	0.0061	24	c.48+ others(41): Show c.48+13109_48+13110insAAAATATATATATATATATATATA		ATF7	ENSG00000170653.19	transcript	ENST00000420353.7	protein_coding	2/11						chr12	TogoVar
ATF7_chr12_53507054_53631382	53587843	A A	ATATATAT others(17): Show ATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01952.hp1 HG01433.hp2 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0146 a0001c0001t0009g0041 a0001c0001t0001g0146 a0001c0001t0009g0041	2	330	0.0061	24	c.48+ others(41): Show c.48+13109_48+13110insAAAAAATATATATATATATATATA		ATF7	ENSG00000170653.19	transcript	ENST00000420353.7	protein_coding	2/11						chr12	TogoVar
ATG10_chr5_81967023_82261133	82118387	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01167.hp1 HG01169.hp2 others(17): Show HG01081.hp2 HG01167.hp1 HG01169.hp2 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG01993.hp2 HG02004.hp1 HG02055.hp2 HG02132.hp2 HG02258.hp2 HG02451.hp2 HG02559.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02886.hp1 HG03209.hp1 NA19240.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0003c0003 a0006c0006 a0001c0001 a0003c0003 a0006c0006	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(5): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0043 a0003c0003t0007 a0006c0006t0003	a0001c0001t0001g0009 a0001c0001t0001g0139 a0001c0001t0001g0143 others(17): Show a0001c0001t0001g0009 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0167 a0001c0001t0005g0013 a0001c0001t0005g0015 a0001c0001t0005g0020 a0001c0001t0005g0021 a0001c0001t0005g0022 a0001c0001t0005g0029 a0001c0001t0009g0136 a0001c0001t0009g0160 a0001c0001t0011g0097 a0001c0001t0011g0099 a0001c0001t0012g0155 a0001c0001t0043g0017 a0003c0003t0007g0043 a0006c0006t0003g0104	20	226	0.0885	24	c.217 others(43): Show c.217-45994_217-45993insATATATATATATATATATATATAT		ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr5	TogoVar
ATG10_chr5_81967023_82261133	82161696	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0051	1	226	0.0044	24	c.217 others(41): Show c.217-2689_217-2666dupCACACACACACACACACACACACA		ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr5	TogoVar
ATG13_chr11_46612553_46679518	46654281	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG02258.hp1 others(1): Show HG01243.hp1 HG01884.hp2 HG02258.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0004 a0001c0001t0009	a0001c0001t0004g0030 a0001c0001t0004g0042 a0001c0001t0009g0023 others(1): Show a0001c0001t0004g0030 a0001c0001t0004g0042 a0001c0001t0009g0023 a0001c0001t0009g0024	4	218	0.0184	24	c.459 others(41): Show c.459-1951_459-1950insATATATATATATATATATATATAT		ATG13	ENSG00000175224.17	transcript	ENST00000683050.1	protein_coding	7/18					INFO_REALIGN_3_PRIME	chr11	TogoVar
ATG14_chr14_55361391_55416830	55402924	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0038 a0001c0002t0002g0038	1	366	0.0027	24	c.222 others(41): Show c.222-5491_222-5490insATATATATATATATATATATATAT		ATG14	ENSG00000126775.9	transcript	ENST00000247178.6	protein_coding	1/9						chr14	TogoVar
ATG14_chr14_55361391_55416830	55402926	A A	AAAATATA others(17): Show AAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	366	0.0027	24	c.222 others(41): Show c.222-5493_222-5492insATATATATATATATATATATATTT		ATG14	ENSG00000126775.9	transcript	ENST00000247178.6	protein_coding	1/9						chr14	TogoVar
ATG16L1_chr2_233246673_233300669	233289377	A A	ATGTGTGT others(17): Show ATGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03704.hp1 HG06807.hp2 others(3): Show HG01496.hp2 HG03704.hp1 HG06807.hp2 NA18968.hp2 NA19010.hp2 NA19070.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 a0001c0001 a0002c0002 a0002c0004	a0001c0001t0003 a0002c0002t0005 a0002c0004t0002 a0001c0001t0003 a0002c0002t0005 a0002c0004t0002	a0001c0001t0003g0165 a0001c0001t0003g0188 a0002c0002t0005g0211 others(3): Show a0001c0001t0003g0165 a0001c0001t0003g0188 a0002c0002t0005g0211 a0002c0002t0005g0240 a0002c0004t0002g0205 a0002c0004t0002g0209	6	354	0.0170	24	c.120 others(41): Show c.1204-468_1204-445dupTGTGTGTGTGTGTGTGTGTGTGTG		ATG16L1	ENSG00000085978.22	transcript	ENST00000392017.9	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr2	TogoVar
ATG16L1_chr2_233246673_233300669	233289408	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA19081.hp1 HG03195.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0111 a0001c0001t0004g0154 a0001c0001t0004g0111 a0001c0001t0004g0154	2	354	0.0057	24	c.120 others(41): Show c.1204-445_1204-444insTGTGTGTGTGTGTGTGAGAGAGAG		ATG16L1	ENSG00000085978.22	transcript	ENST00000392017.9	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr2	TogoVar
ATG16L1_chr2_233246673_233300669	233289408	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGTGAGAGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03098.hp1 HG02055.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0014 a0001c0001t0011g0014	2	354	0.0057	24	c.120 others(41): Show c.1204-445_1204-444insTGTGTGTGTGTGTGTGTGAGAGAG		ATG16L1	ENSG00000085978.22	transcript	ENST00000392017.9	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr2	TogoVar
ATG16L1_chr2_233246673_233300669	233296608	G G	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0186 a0001c0001t0003g0186	1	354	0.0028	24	c.22 others(35): Show c.2258_*2259insGTGTGTGTGTGTGTGTGTGTGTGT		ATG16L1	ENSG00000085978.22	transcript	ENST00000392017.9	protein_coding					940		chr2	TogoVar
ATG2B_chr14_96274195_96368341	96295727	C C	CCACACAC others(17): Show CCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02280.hp1 HG02451.hp2 others(1): Show HG01261.hp2 HG02280.hp1 HG02451.hp2 HG04184.hp1	a0001 a0024 a0001 a0024	a0001c0002 a0001c0026 a0024c0028 a0001c0002 a0001c0026 a0024c0028	a0001c0002t0001 a0001c0026t0001 a0024c0028t0058 a0001c0002t0001 a0001c0026t0001 a0024c0028t0058	a0001c0002t0001g0265 a0001c0002t0001g0299 a0001c0026t0001g0269 others(1): Show a0001c0002t0001g0265 a0001c0002t0001g0299 a0001c0026t0001g0269 a0024c0028t0058g0326	4	356	0.0112	24	c.514 others(41): Show c.5140-191_5140-168dupTGTGTGTGTGTGTGTGTGTGTGTG		ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	34/41						chr14	TogoVar
ATG2B_chr14_96274195_96368341	96308245	T T	TATATACA others(17): Show TATATACATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0186 a0002c0001t0002g0186	1	356	0.0028	24	c.430 others(43): Show c.4303+1207_4303+1208insGTATATATATATATATATGTATAT		ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	29/41						chr14	TogoVar
ATG5_chr6_106179476_106330760	106256597	C C	CTAGAGAG others(17): Show CTAGAGAGTACAGATTACTACACAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0019 a0001c0001t0012g0019	1	358	0.0028	24	c.479 others(41): Show c.479-8377_479-8354dupTTGTGTAGTAATCTGTACTCTCTA		ATG5	ENSG00000057663.16	transcript	ENST00000369076.8	protein_coding	5/7						chr6	TogoVar
ATG7_chr3_11267397_11562665	11378027	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02922.hp2 HG02055.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0044 a0001c0001t0005 a0001c0001t0044	a0001c0001t0005g0258 a0001c0001t0044g0262 a0001c0001t0005g0258 a0001c0001t0044g0262	2	292	0.0069	24	c.187 others(43): Show c.1876-1927_1876-1926insTTTTTTTTTTTTTTTTTTTTTTTT		ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	18/20					INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11475868	G G	GACACACA others(17): Show GACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02615.hp1 HG03491.hp2 HG02155.hp1 HG02615.hp1 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0224 a0001c0001t0002g0239 a0001c0001t0003g0256 a0001c0001t0002g0224 a0001c0001t0002g0239 a0001c0001t0003g0256	3	292	0.0103	24	c.207 others(45): Show c.2079+48959_2079+48982dupACACACACACACACACACACACAC		ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20					INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11497357	C C	CTATATAT others(17): Show CTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp1 NA18980.hp2 HG01074.hp1 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0057 a0001c0001t0002g0200 a0001c0001t0001g0057 a0001c0001t0002g0200	2	292	0.0069	24	c.208 others(45): Show c.2080-57442_2080-57419dupATATATATATATATATATATATAT		ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20					INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11497357	C C	CTATATAT others(17): Show CTATATATATATGTATATGTATATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG06807.hp1 HG02109.hp1 HG06807.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0004 a0005c0008t0004 a0001c0001t0004 a0005c0008t0004	a0001c0001t0004g0148 a0005c0008t0004g0270 a0001c0001t0004g0148 a0005c0008t0004g0270	2	292	0.0069	24	c.208 others(45): Show c.2080-57443_2080-57442insGTATATGTATATATATATATATAT		ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20					INFO_REALIGN_3_PRIME	chr3	TogoVar
ATL2_chr2_38288954_38382273	38329423	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0004 a0002c0006t0004	a0002c0006t0004g0170 a0002c0006t0004g0170	1	236	0.0042	24	c.364 others(43): Show c.364-10428_364-10405dupTTTTTTTTTTTTTTTTTTTTTTTT		ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding	2/12						chr2	TogoVar
ATM_chr11_108218067_108374102	108317652	T T	TATATATA others(17): Show TATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0196 a0001c0001t0011g0196	1	304	0.0033	24	c.634 others(41): Show c.6347+132_6347+133insTATATATATATATACACACACACA		ATM	ENSG00000149311.21	transcript	ENST00000675843.1	protein_coding	43/62					INFO_REALIGN_3_PRIME	chr11	TogoVar
ATN1_chr12_6922959_6947321	6936728	A A	ACAGCAGC others(17): Show ACAGCAGCAGCAGCAGCAGCAGCAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18986.hp1 NA18986.hp1	a0028 a0028	a0028c0033 a0028c0033	a0028c0033t0001 a0028c0033t0001	a0028c0033t0001g0002 a0028c0033t0001g0002	1	414	0.0024	24	c.148 others(33): Show c.1485_1508dupGCAGCAGCAGCAGCAGCAGCAGCA	p.Gln others(13): Show p.Gln495_Gln502dup	ATN1	ENSG00000111676.15	transcript	ENST00000396684.3	protein_coding	5/10	2097/4702	1509/3573	503/1190		INFO_REALIGN_3_PRIME	chr12	TogoVar
ATOH1_chr4_93823753_93835964	93831405	C C	CCTCTCTC others(17): Show CCTCTCTCTCTCTCTCTCTCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01257.hp2 HG01258.hp1 others(8): Show HG01167.hp2 HG01257.hp2 HG01258.hp1 HG01891.hp1 HG02976.hp1 NA18522.hp2 NA18953.hp2 NA19003.hp1 NA19077.hp1 NA19081.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0020 a0001c0001t0002 a0001c0001t0004 a0001c0001t0020	a0001c0001t0002g0000 a0001c0001t0004g0000 a0001c0001t0020g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 a0001c0001t0020g0000	11	458	0.0240	24	c.14 others(35): Show c.1414_*1415insCTCTCTCTCTCTCTCTCTCTCTCT		ATOH1	ENSG00000172238.6	transcript	ENST00000306011.6	protein_coding					442		chr4	TogoVar
ATOSA_chr15_52576321_52684388	52583390	G G	GTCATTCA others(17): Show GTCATTCATTCATTCATTCATTCAT	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0011 a0011	a0011c0017 a0011c0017	a0011c0017t0001 a0011c0017t0001	a0011c0017t0001g0139 a0011c0017t0001g0139	1	362	0.0028	24	c.307 others(43): Show c.3078-1107_3078-1084dupATGAATGAATGAATGAATGAATGA		ATOSA	ENSG00000047346.13	transcript	ENST00000619572.5	protein_coding	12/12						chr15	TogoVar

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