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
ASXL2_chr2_25728753_25883487	25807986	T T	TAAACACA others(15): Show TAAACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	222	0.0045	22	c.144 others(39): Show c.144-1650_144-1649insGTGTGTGTGTGTGTGTGTGTTT	ASXL2	ENSG00000143970.18	transcript	ENST00000435504.9	protein_coding	3/12			chr2	TogoVar
ASXL2_chr2_25728753_25883487	25807986	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02451.hp2 HG02965.hp2 others(3): Show HG02280.hp1 HG02451.hp2 HG02965.hp2 HG03453.hp1 HG03516.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0024 a0001c0001t0001 a0001c0001t0024	a0001c0001t0001g0085 a0001c0001t0001g0098 a0001c0001t0001g0144 others(3): Show a0001c0001t0001g0085 a0001c0001t0001g0098 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0024g0073 a0001c0001t0024g0074	6	222	0.0270	22	c.144 others(39): Show c.144-1671_144-1650dupGTGTGTGTGTGTGTGTGTGTGT	ASXL2	ENSG00000143970.18	transcript	ENST00000435504.9	protein_coding	3/12			chr2	TogoVar
ASXL2_chr2_25728753_25883487	25849064	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01934.hp1 HG03098.hp2 HG01891.hp2 HG01934.hp1 HG03098.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0021 a0002c0002t0006 a0002c0002t0021	a0002c0002t0006g0056 a0002c0002t0021g0058 a0002c0002t0021g0059 a0002c0002t0006g0056 a0002c0002t0021g0058 a0002c0002t0021g0059	3	222	0.0135	22	c.58- others(37): Show c.58-3502_58-3501insATATATATATATATATATATAT	ASXL2	ENSG00000143970.18	transcript	ENST00000435504.9	protein_coding	1/12			chr2	TogoVar
ASXL3_chr18_33573219_33756195	33590111	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0023 a0001c0001t0008g0023	1	220	0.0046	22	c.54+ others(39): Show c.54+11445_54+11446insTTTTTTTTTTTTTTTTTTTTTT	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(15): Show GTTTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01975.hp2 NA18970.hp1 HG00438.hp2 HG01975.hp2 NA18970.hp1	a0002 a0002	a0002c0002 a0002c0013 a0002c0002 a0002c0013	a0002c0002t0005 a0002c0013t0046 a0002c0002t0005 a0002c0013t0046	a0002c0002t0005g0080 a0002c0002t0005g0178 a0002c0013t0046g0079 a0002c0002t0005g0080 a0002c0002t0005g0178 a0002c0013t0046g0079	3	220	0.0136	22	c.55- others(37): Show c.55-5808_55-5807insTTATATATATATATATATATAT	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(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01928.hp2 NA18982.hp1 others(2): Show HG00323.hp2 HG01928.hp2 NA18982.hp1 NA18982.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0005c0007t0001	a0001c0001t0001g0096 a0001c0001t0002g0128 a0001c0001t0002g0186 others(2): Show a0001c0001t0001g0096 a0001c0001t0002g0128 a0001c0001t0002g0186 a0001c0001t0016g0192 a0005c0007t0001g0074	5	220	0.0227	22	c.715 others(39): Show c.715+4360_715+4381dupAAAAAAAAAAAAAAAAAAAAAA	ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
ASZ1_chr7_117358222_117432493	117379168	T T	TATATATA others(15): Show TATATATATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0107 a0001c0001t0003g0107	1	306	0.0033	22	c.105 others(39): Show c.1055+769_1055+770insGTGTGTGTGTGTGTATATATAT	ASZ1	ENSG00000154438.8	transcript	ENST00000284629.7	protein_coding	10/12			chr7	TogoVar
ASZ1_chr7_117358222_117432493	117379168	T T	TATATATA others(15): Show TATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0117 a0001c0001t0003g0117	1	306	0.0033	22	c.105 others(39): Show c.1055+769_1055+770insGTGTGTGTGTATATATATATAT	ASZ1	ENSG00000154438.8	transcript	ENST00000284629.7	protein_coding	10/12			chr7	TogoVar
ATAD2B_chr2_23743664_23932123	23745422	A A	AAGGAAGA others(15): Show AAGGAAGAAAGGAAAGGGAAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0108 a0001c0001t0004g0108	1	246	0.0041	22	c.66 others(33): Show c.6623_*6624insCCCTTCCCTTTCCTTTCTTCCT	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding		3241		chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23922701	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0224 a0001c0001t0003g0224	1	246	0.0041	22	c.216 others(39): Show c.216+3853_216+3854insTTTTTTTTTTTTTTTTTTTTTT	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	1/27			chr2	TogoVar
ATAD2_chr8_123314850_123401447	123354864	A A	AAAAAATA others(15): Show AAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0005 a0002c0004t0003g0005	1	278	0.0036	22	c.164 others(41): Show c.1646+1524_1646+1525insATATATATATATATATATTTTT	ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding	13/27			chr8	TogoVar
ATAD2_chr8_123314850_123401447	123377091	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02273.hp2 HG03831.hp2 others(1): Show HG01943.hp1 HG02273.hp2 HG03831.hp2 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0027 a0001c0001 a0001c0027	a0001c0001t0001 a0001c0001t0002 a0001c0027t0002 a0001c0001t0001 a0001c0001t0002 a0001c0027t0002	a0001c0001t0001g0236 a0001c0001t0001g0244 a0001c0001t0002g0037 others(1): Show a0001c0001t0001g0236 a0001c0001t0001g0244 a0001c0001t0002g0037 a0001c0027t0002g0277	4	278	0.0144	22	c.320 others(39): Show c.320+3437_320+3438insTTTTTTTTTTTTTTTTTTTTTT	ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding	2/27			chr8	TogoVar
ATAD2_chr8_123314850_123401447	123389960	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0004 a0002c0004t0003g0004	1	278	0.0036	22	c.171 others(39): Show c.171+6205_171+6226dupTATATATATATATATATATATA	ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding	1/27			chr8	TogoVar
ATAD2_chr8_123314850_123401447	123389960	T T	TTTTATAT others(15): Show TTTTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0208 a0004c0007t0001g0208	1	278	0.0036	22	c.171 others(39): Show c.171+6226_171+6227insTATATATATATATATATATAAA	ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding	1/27			chr8	TogoVar
ATAD3C_chr1_1444689_1475163	1469099	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0092 a0001c0001t0092	a0001c0001t0092g0134 a0001c0001t0092g0134	1	410	0.0024	22	c.58 others(31): Show c.585_*606dupAAAAAAAAAAAAAAAAAAAAAA	ATAD3C	ENSG00000215915.10	transcript	ENST00000378785.7	protein_coding	12/12	607	INFO_REALIGN_3_PRIME	chr1	TogoVar
ATAT1_chr6_30621874_30651821	30641106	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA19090.hp2 NA18968.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0001 a0002c0005t0001 a0001c0002t0001 a0002c0005t0001	a0001c0002t0001g0063 a0002c0005t0001g0060 a0001c0002t0001g0063 a0002c0005t0001g0060	2	405	0.0049	22	c.652 others(37): Show c.652+504_652+505insCACACACACACACACACACACA	ATAT1	ENSG00000137343.18	transcript	ENST00000376485.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
ATE1_chr10_121735424_121933031	121912911	G G	GCTGTTGT others(15): Show GCTGTTGTTGAAACAGAGTCTCT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00621.hp2 HG00639.hp1 others(37): Show HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00733.hp1 HG01081.hp1 HG01168.hp1 HG01175.hp1 HG01256.hp1 HG01496.hp1 HG01952.hp1 HG01978.hp2 HG02027.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp2 HG02818.hp2 HG03453.hp2 HG03831.hp1 HG04204.hp2 NA18945.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18966.hp1 NA18973.hp2 NA18981.hp2 NA18989.hp1 NA18991.hp1 NA18992.hp2 NA18993.hp1 NA18998.hp1 NA19009.hp1 NA19054.hp1 NA19084.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0017 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0002t0009	a0001c0001t0001g0102 a0001c0001t0001g0112 a0001c0001t0001g0117 others(37): Show a0001c0001t0001g0102 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0184 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0002g0219 a0001c0001t0004g0218 a0001c0001t0017g0104 a0001c0002t0001g0108 a0001c0002t0001g0113 a0001c0002t0001g0115 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0101 a0001c0002t0002g0103 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0116 a0001c0002t0002g0118 a0001c0002t0002g0120 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0002g0123 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0003g0100 a0001c0002t0003g0114 a0001c0002t0003g0119 a0001c0002t0007g0096 a0001c0002t0009g0109	40	320	0.1250	22	c.337 others(37): Show c.337+878_337+879insAGAGACTCTGTTTCAACAACAG	ATE1	ENSG00000107669.19	transcript	ENST00000224652.12	protein_coding	4/11			chr10	TogoVar
ATF4_chr22_39515562_39527683	39523993	C C	CTTTTGTT others(15): Show CTTTTGTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	354	0.0028	22	c.13 others(33): Show c.1391_*1392insTTTTGTTTTTTTTTTTTTTTTT	ATF4	ENSG00000128272.18	transcript	ENST00000674920.3	protein_coding		1311		chr22	TogoVar
ATF6_chr1_161761320_161969070	161920294	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG03491.hp2 HG00673.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0005 a0001c0001t0006	a0001c0001t0005g0141 a0001c0001t0006g0005 a0001c0001t0005g0141 a0001c0001t0006g0005	2	332	0.0060	22	c.180 others(41): Show c.1804+7932_1804+7933insTTTTTTTTTTTTTTTTTTTTTT	ATF6	ENSG00000118217.7	transcript	ENST00000367942.4	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATF7IP_chr12_14360682_14507930	14494333	A A	ATATATAT others(15): Show ATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0046 a0001c0001t0017g0046	1	346	0.0029	22	c.328 others(41): Show c.3281-1897_3281-1896insATATATATATATATATATGTGT	ATF7IP	ENSG00000171681.13	transcript	ENST00000261168.9	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
ATF7_chr12_53507054_53631382	53529710	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	330	0.0030	22	c.927 others(39): Show c.927+2012_927+2033dupGTGTGTGTGTGTGTGTGTGTGT	ATF7	ENSG00000170653.19	transcript	ENST00000420353.7	protein_coding	9/11			chr12	TogoVar
ATF7_chr12_53507054_53631382	53529734	C C	CACACACA others(15): Show CACACACACACACACACACATAT	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	330	0.0030	22	c.927 others(39): Show c.927+2009_927+2010insATATGTGTGTGTGTGTGTGTGT	ATF7	ENSG00000170653.19	transcript	ENST00000420353.7	protein_coding	9/11			chr12	TogoVar
ATF7_chr12_53507054_53631382	53587843	A A	ATATATAT others(15): Show ATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA20805.hp2 NA18943.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0100 a0001c0001t0001g0066 a0001c0001t0001g0100	2	330	0.0061	22	c.48+ others(39): Show c.48+13109_48+13110insAATATATATATATATATATATA	ATF7	ENSG00000170653.19	transcript	ENST00000420353.7	protein_coding	2/11			chr12	TogoVar
ATG10_chr5_81967023_82261133	82118387	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01261.hp1 HG01891.hp2 others(5): Show HG01243.hp2 HG01261.hp1 HG01891.hp2 HG02486.hp1 HG02622.hp2 HG02738.hp1 HG03209.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0012 a0001c0001t0020 a0001c0001t0021	a0001c0001t0001g0050 a0001c0001t0001g0135 a0001c0001t0003g0144 others(5): Show a0001c0001t0001g0050 a0001c0001t0001g0135 a0001c0001t0003g0144 a0001c0001t0005g0026 a0001c0001t0011g0096 a0001c0001t0012g0154 a0001c0001t0020g0153 a0001c0001t0021g0145	8	226	0.0354	22	c.217 others(41): Show c.217-45994_217-45993insATATATATATATATATATATAT	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
ATG10_chr5_81967023_82261133	82121941	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0140 a0001c0001t0012g0140	1	226	0.0044	22	c.217 others(41): Show c.217-42439_217-42438insTTTTTTTTTTTTTTTTTTTTTT	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(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01175.hp1 HG02055.hp2 others(1): Show HG00099.hp1 HG01175.hp1 HG02055.hp2 HG04115.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0002c0002t0032 a0001c0001t0001 a0002c0002t0002 a0002c0002t0032	a0001c0001t0001g0009 a0002c0002t0002g0060 a0002c0002t0002g0066 others(1): Show a0001c0001t0001g0009 a0002c0002t0002g0060 a0002c0002t0002g0066 a0002c0002t0032g0120	4	226	0.0177	22	c.217 others(39): Show c.217-2687_217-2666dupCACACACACACACACACACACA	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(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02895.hp2 HG02897.hp1 others(1): Show HG02647.hp1 HG02895.hp2 HG02897.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0038 others(1): Show a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0038 a0001c0001t0004g0039	4	218	0.0184	22	c.459 others(39): Show c.459-1951_459-1950insATATATATATATATATATATAT	ATG13	ENSG00000175224.17	transcript	ENST00000683050.1	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
ATG16L1_chr2_233246673_233300669	233279460	A A	AGATTAGG others(15): Show AGATTAGGTAGAAACTTGATTTT	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	354	0.0028	22	c.106 others(41): Show c.1061-1645_1061-1644insGATTAGGTAGAAACTTGATTTT	ATG16L1	ENSG00000085978.22	transcript	ENST00000392017.9	protein_coding	10/17			chr2	TogoVar
ATG16L1_chr2_233246673_233300669	233289377	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00741.hp2 HG01069.hp2 others(17): Show HG00673.hp1 HG00741.hp2 HG01069.hp2 HG01257.hp1 HG01261.hp2 HG02135.hp2 HG03239.hp2 HG03831.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18956.hp1 NA18986.hp1 NA18990.hp1 NA18990.hp2 NA19058.hp1 NA19060.hp2 NA19065.hp2 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0002 a0002c0002t0005 a0001c0001t0003 a0002c0002t0002 a0002c0002t0005	a0001c0001t0003g0019 a0001c0001t0003g0159 a0001c0001t0003g0161 others(11): Show a0001c0001t0003g0019 a0001c0001t0003g0159 a0001c0001t0003g0161 a0001c0001t0003g0164 a0001c0001t0003g0179 a0001c0001t0003g0186 a0002c0002t0002g0026 a0002c0002t0002g0246 a0002c0002t0002g0269 a0002c0002t0002g0270 a0002c0002t0005g0012 a0002c0002t0005g0025 a0002c0002t0005g0035 a0002c0002t0005g0212	20	354	0.0565	22	c.120 others(39): Show c.1204-466_1204-445dupTGTGTGTGTGTGTGTGTGTGTG	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(15): Show TGTGTGTGTGTGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0090 a0001c0001t0004g0090	1	354	0.0028	22	c.120 others(39): Show c.1204-445_1204-444insTGTGTGTGTGAGAGAGAGAGAG	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(15): Show TGTGTGTGTGTGTGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA18959.hp1 NA18977.hp1 others(5): Show HG02965.hp1 NA18959.hp1 NA18977.hp1 NA18979.hp2 NA18985.hp1 NA18989.hp1 NA19056.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0061 a0001c0001t0004g0086 a0001c0001t0004g0087 others(5): Show a0001c0001t0004g0061 a0001c0001t0004g0086 a0001c0001t0004g0087 a0001c0001t0004g0089 a0001c0001t0004g0138 a0001c0001t0004g0140 a0001c0001t0004g0194 a0001c0001t0004g0195	8	354	0.0226	22	c.120 others(39): Show c.1204-445_1204-444insTGTGTGTGTGTGAGAGAGAGAG	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(15): Show TGTGTGTGTGTGTGTGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02717.hp1 HG02976.hp2 others(9): Show HG00741.hp1 HG02717.hp1 HG02976.hp2 HG03130.hp2 HG03490.hp2 HG03704.hp2 NA18944.hp1 NA18946.hp1 NA18966.hp2 NA18968.hp1 NA18979.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0021 a0001c0001t0004 a0001c0001t0021	a0001c0001t0004g0044 a0001c0001t0004g0104 a0001c0001t0004g0108 others(9): Show a0001c0001t0004g0044 a0001c0001t0004g0104 a0001c0001t0004g0108 a0001c0001t0004g0109 a0001c0001t0004g0117 a0001c0001t0004g0143 a0001c0001t0004g0146 a0001c0001t0004g0155 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0004g0192 a0001c0001t0021g0144	12	354	0.0339	22	c.120 others(39): Show c.1204-445_1204-444insTGTGTGTGTGTGTGAGAGAGAG	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(15): Show GGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0047 a0001c0001t0003g0047	1	354	0.0028	22	c.22 others(33): Show c.2258_*2259insGTGTGTGTGTGTGTGTGTGTGT	ATG16L1	ENSG00000085978.22	transcript	ENST00000392017.9	protein_coding		940		chr2	TogoVar
ATG2B_chr14_96274195_96368341	96295727	C C	CCACACAC others(15): Show CCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01070.hp2 HG02647.hp2 others(5): Show HG00735.hp2 HG01070.hp2 HG02647.hp2 NA19001.hp1 NA19030.hp1 NA19063.hp1 NA19066.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0002t0055 a0001c0002t0061 others(2): Show a0001c0002t0001 a0001c0002t0055 a0001c0002t0061 a0001c0005t0005 a0001c0005t0007	a0001c0002t0001g0262 a0001c0002t0001g0278 a0001c0002t0001g0284 others(5): Show a0001c0002t0001g0262 a0001c0002t0001g0278 a0001c0002t0001g0284 a0001c0002t0055g0320 a0001c0002t0061g0276 a0001c0005t0005g0075 a0001c0005t0005g0076 a0001c0005t0007g0065	8	356	0.0225	22	c.514 others(39): Show c.5140-189_5140-168dupTGTGTGTGTGTGTGTGTGTGTG	ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	34/41			chr14	TogoVar
ATG4A_chrX_108086778_108159671	108140997	T T	TACATATA others(15): Show TACATATATATACGTATATATAC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0179 a0001c0001t0002g0179	1	249	0.0040	22	c.814 others(39): Show c.814+2819_814+2840dupGTATATATACACATATATATAC	ATG4A	ENSG00000101844.18	transcript	ENST00000372232.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATG4B_chr2_241632693_241678857	241642871	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02129.hp2 NA19064.hp1 HG00438.hp1 HG02129.hp2 NA19064.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0022 a0001c0002t0005 a0001c0002t0022	a0001c0002t0005g0085 a0001c0002t0022g0086 a0001c0002t0022g0087 a0001c0002t0005g0085 a0001c0002t0022g0086 a0001c0002t0022g0087	3	410	0.0073	22	c.10+ others(37): Show c.10+5147_10+5148insTTTTTTTTTTTTTTTTTTTTTT	ATG4B	ENSG00000168397.17	transcript	ENST00000404914.8	protein_coding	1/12			chr2	TogoVar
ATG4B_chr2_241632693_241678857	241643692	T T	TCCCCCCC others(15): Show TCCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0204 a0001c0006t0003g0204	1	410	0.0024	22	c.10+ others(37): Show c.10+5968_10+5969insCCCCCCCCCCCCCCCCCCCCCC	ATG4B	ENSG00000168397.17	transcript	ENST00000404914.8	protein_coding	1/12			chr2	TogoVar
ATG7_chr3_11267397_11562665	11378027	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00673.hp1 HG01099.hp2 others(6): Show HG00423.hp1 HG00673.hp1 HG01099.hp2 HG02818.hp2 HG03098.hp1 NA18949.hp2 NA18955.hp1 NA18974.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0006 a0001c0001t0047 others(1): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0047 a0001c0002t0035	a0001c0001t0003g0068 a0001c0001t0003g0096 a0001c0001t0003g0097 others(6): Show a0001c0001t0003g0068 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0129 a0001c0001t0003g0253 a0001c0001t0003g0259 a0001c0001t0006g0152 a0001c0001t0047g0104 a0001c0002t0035g0271	9	292	0.0308	22	c.187 others(41): Show c.1876-1927_1876-1926insTTTTTTTTTTTTTTTTTTTTTT	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(15): Show GACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp2 HG01169.hp2 others(4): Show HG01167.hp1 HG01167.hp2 HG01169.hp2 HG02083.hp2 NA18747.hp1 NA18939.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0006t0002	a0001c0001t0001g0087 a0001c0001t0001g0105 a0001c0001t0001g0109 others(4): Show a0001c0001t0001g0087 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0127 a0001c0001t0002g0228 a0001c0002t0001g0185 a0001c0006t0002g0094	7	292	0.0240	22	c.207 others(43): Show c.2079+48961_2079+48982dupACACACACACACACACACACAC	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(15): Show CTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG03704.hp2 HG03710.hp1 HG00280.hp2 HG03704.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0112 a0001c0002t0001g0036 a0001c0002t0002g0225 a0001c0001t0001g0112 a0001c0002t0001g0036 a0001c0002t0002g0225	3	292	0.0103	22	c.208 others(43): Show c.2080-57440_2080-57419dupATATATATATATATATATATAT	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(15): Show CTATATATATATGTATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0260 a0001c0001t0005g0260	1	292	0.0034	22	c.208 others(43): Show c.2080-57443_2080-57442insGTATATATATATATATATATAT	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(15): Show CTATATATATATGTATATGTATA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0265 a0001c0001t0004g0265	1	292	0.0034	22	c.208 others(43): Show c.2080-57443_2080-57442insGTATATGTATATATATATATAT	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATL1_chr14_50555145_50638045	50574937	G G	GTGTATAT others(15): Show GTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0027 a0001c0004t0001g0027	1	320	0.0031	22	c.35- others(39): Show c.35-12893_35-12892insGTATATATATATATATATATAT	ATL1	ENSG00000198513.14	transcript	ENST00000358385.12	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
ATL2_chr2_38288954_38382273	38329423	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0063 a0001c0001t0004g0063	1	236	0.0042	22	c.364 others(41): Show c.364-10426_364-10405dupTTTTTTTTTTTTTTTTTTTTTT	ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding	2/12			chr2	TogoVar
ATL2_chr2_38288954_38382273	38337486	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02602.hp2 HG00323.hp1 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0074 a0001c0001t0004g0091 a0001c0001t0002g0074 a0001c0001t0004g0091	2	236	0.0085	22	c.363 others(39): Show c.363+5760_363+5781dupTTTTTTTTTTTTTTTTTTTTTT	ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding	2/12			chr2	TogoVar
ATL3_chr11_63619087_63676376	63657208	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0038 a0001c0001t0011g0038	1	242	0.0041	22	c.405 others(39): Show c.405+1552_405+1553insTTTTTTTTTTTTTTTTTTTTTT	ATL3	ENSG00000184743.13	transcript	ENST00000398868.8	protein_coding	3/12			chr11	TogoVar
ATM_chr11_108218067_108374102	108293892	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0022 a0022	a0022c0021 a0022c0021	a0022c0021t0036 a0022c0021t0036	a0022c0021t0036g0008 a0022c0021t0036g0008	1	304	0.0033	22	c.477 others(39): Show c.4776+416_4776+417insTATATATATATATATATATATA	ATM	ENSG00000149311.21	transcript	ENST00000675843.1	protein_coding	31/62		INFO_REALIGN_3_PRIME	chr11	TogoVar
ATM_chr11_108218067_108374102	108317652	T T	TATATATA others(15): Show TATATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19074.hp2 NA19000.hp2 NA19074.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0005 a0005c0006t0030 a0005c0006t0005 a0005c0006t0030	a0005c0006t0005g0181 a0005c0006t0030g0167 a0005c0006t0005g0181 a0005c0006t0030g0167	2	304	0.0066	22	c.634 others(39): Show c.6347+132_6347+133insTATATATATACACACACACACA	ATM	ENSG00000149311.21	transcript	ENST00000675843.1	protein_coding	43/62		INFO_REALIGN_3_PRIME	chr11	TogoVar
ATOH1_chr4_93823753_93835964	93831405	C C	CCTCTCTC others(15): Show CCTCTCTCTCTCTCTCTCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG03225.hp2 NA18906.hp1 others(3): Show HG02027.hp1 HG03225.hp2 NA18906.hp1 NA18979.hp2 NA19002.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010	a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 others(1): Show a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0010g0000	6	458	0.0131	22	c.14 others(33): Show c.1414_*1415insCTCTCTCTCTCTCTCTCTCTCT	ATOH1	ENSG00000172238.6	transcript	ENST00000306011.6	protein_coding		442		chr4	TogoVar
ATOSA_chr15_52576321_52684388	52640571	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0245 a0004c0005t0001g0245	1	362	0.0028	22	c.17- others(39): Show c.17-26736_17-26715dupTTTTTTTTTTTTTTTTTTTTTT	ATOSA	ENSG00000047346.13	transcript	ENST00000619572.5	protein_coding	2/12			chr15	TogoVar

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