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
ARFGAP3_chr22_42791502_42862273	42859693	A A	AATATATA others(3): Show AATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0254 a0002c0002t0001g0254	1	362	0.0028	10	c.-25 others(21): Show c.-2512_-2511insATATATATAT	ARFGAP3	ENSG00000242247.11	transcript	ENST00000263245.10	protein_coding		2421		chr22	TogoVar
ARFGEF1_chr8_67192658_67348781	67217304	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0205 a0001c0003t0005g0205	1	208	0.0048	10	c.461 others(27): Show c.4613+468_4613+477dupTTTTTTTTTT	ARFGEF1	ENSG00000066777.9	transcript	ENST00000262215.8	protein_coding	32/38			chr8	TogoVar
ARFGEF1_chr8_67192658_67348781	67218203	A A	AATATATA others(3): Show AATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03540.hp1 NA18906.hp1 HG02145.hp1 HG03540.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0074 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0074	3	208	0.0144	10	c.433 others(25): Show c.4339-66_4339-65insATATATATAT	ARFGEF1	ENSG00000066777.9	transcript	ENST00000262215.8	protein_coding	30/38			chr8	TogoVar
ARFGEF1_chr8_67192658_67348781	67222194	T T	TATACACA others(3): Show TATACACACAC	intron_variant intron_variant	MODIFIER	HG04199.hp1 NA20905.hp2 HG04199.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0198 a0001c0001t0001g0126 a0001c0001t0001g0198	2	208	0.0096	10	c.420 others(29): Show c.4209-2635_4209-2634insGTGTGTGTAT	ARFGEF1	ENSG00000066777.9	transcript	ENST00000262215.8	protein_coding	29/38			chr8	TogoVar
ARFGEF1_chr8_67192658_67348781	67222194	T T	TATATACA others(3): Show TATATACACAC	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18952.hp2 NA18957.hp2 others(5): Show NA18946.hp1 NA18952.hp2 NA18957.hp2 NA18982.hp1 NA18988.hp2 NA18998.hp1 NA19004.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0117 others(5): Show a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0127	8	208	0.0385	10	c.420 others(29): Show c.4209-2635_4209-2634insGTGTGTATAT	ARFGEF1	ENSG00000066777.9	transcript	ENST00000262215.8	protein_coding	29/38			chr8	TogoVar
ARFGEF1_chr8_67192658_67348781	67222220	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	208	0.0048	10	c.420 others(29): Show c.4209-2661_4209-2660insGTGTGTGTGT	ARFGEF1	ENSG00000066777.9	transcript	ENST00000262215.8	protein_coding	29/38			chr8	TogoVar
ARFGEF1_chr8_67192658_67348781	67222220	T T	TATACACA others(3): Show TATACACACAC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03688.hp2 HG03017.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0113 a0001c0001t0001g0115	2	208	0.0096	10	c.420 others(29): Show c.4209-2661_4209-2660insGTGTGTGTAT	ARFGEF1	ENSG00000066777.9	transcript	ENST00000262215.8	protein_coding	29/38			chr8	TogoVar
ARFGEF1_chr8_67192658_67348781	67224288	T T	TACAGGGT others(3): Show TACAGGGTAAA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	208	0.0048	10	c.420 others(27): Show c.4208+605_4208+614dupTTTACCCTGT	ARFGEF1	ENSG00000066777.9	transcript	ENST00000262215.8	protein_coding	29/38			chr8	TogoVar
ARFGEF1_chr8_67192658_67348781	67236365	A A	AAAAAAAA others(3): Show AAAAAAAAAAT	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	208	0.0048	10	c.328 others(29): Show c.3289+1977_3289+1978insATTTTTTTTT	ARFGEF1	ENSG00000066777.9	transcript	ENST00000262215.8	protein_coding	22/38			chr8	TogoVar
ARFGEF1_chr8_67192658_67348781	67236365	A A	AAAATATA others(3): Show AAAATATATAT	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	208	0.0048	10	c.328 others(29): Show c.3289+1977_3289+1978insATATATATTT	ARFGEF1	ENSG00000066777.9	transcript	ENST00000262215.8	protein_coding	22/38			chr8	TogoVar
ARFGEF1_chr8_67192658_67348781	67244242	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18957.hp2 NA18982.hp1 others(2): Show NA18946.hp1 NA18957.hp2 NA18982.hp1 NA19002.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0123 others(2): Show a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0198	5	208	0.0240	10	c.285 others(29): Show c.2851-3962_2851-3953dupTTTTTTTTTT	ARFGEF1	ENSG00000066777.9	transcript	ENST00000262215.8	protein_coding	19/38			chr8	TogoVar
ARFGEF1_chr8_67192658_67348781	67258818	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02056.hp2 HG02293.hp2 others(3): Show HG02055.hp2 HG02056.hp2 HG02293.hp2 HG02809.hp2 HG03098.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0003t0005 a0001c0006t0005 a0001c0001t0001 a0001c0003t0005 a0001c0006t0005	a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0029 others(3): Show a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0029 a0001c0001t0001g0197 a0001c0003t0005g0205 a0001c0006t0005g0206	6	208	0.0289	10	c.223 others(27): Show c.2236-538_2236-529dupGTGTGTGTGT	ARFGEF1	ENSG00000066777.9	transcript	ENST00000262215.8	protein_coding	15/38			chr8	TogoVar
ARFGEF1_chr8_67192658_67348781	67339795	C C	CGGGGGGG others(3): Show CGGGGGGGAGG	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG03098.hp2 HG01071.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0012 a0001c0001t0001g0013	2	208	0.0096	10	c.124 others(27): Show c.124+3368_124+3369insCCTCCCCCCC	ARFGEF1	ENSG00000066777.9	transcript	ENST00000262215.8	protein_coding	1/38			chr8	TogoVar
ARFGEF1_chr8_67192658_67348781	67339795	C C	CGGGGGGG others(3): Show CGGGGGGGGAG	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	208	0.0048	10	c.124 others(27): Show c.124+3368_124+3369insCTCCCCCCCC	ARFGEF1	ENSG00000066777.9	transcript	ENST00000262215.8	protein_coding	1/38			chr8	TogoVar
ARFGEF1_chr8_67192658_67348781	67339795	C C	CGGGGGGG others(3): Show CGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA18939.hp2 NA18950.hp2 others(4): Show HG06807.hp2 NA18939.hp2 NA18950.hp2 NA18957.hp1 NA18991.hp2 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0001 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0011 a0001c0001t0001g0098 a0001c0001t0001g0135 others(4): Show a0001c0001t0001g0011 a0001c0001t0001g0098 a0001c0001t0001g0135 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0003g0097 a0001c0001t0007g0163	7	208	0.0337	10	c.124 others(27): Show c.124+3359_124+3368dupCCCCCCCCCC	ARFGEF1	ENSG00000066777.9	transcript	ENST00000262215.8	protein_coding	1/38			chr8	TogoVar
ARFGEF1_chr8_67192658_67348781	67339798	G G	GGGGGGGG others(3): Show GGGGGGGGGGT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0207 a0001c0003t0006g0207	1	208	0.0048	10	c.124 others(27): Show c.124+3365_124+3366insACCCCCCCCC	ARFGEF1	ENSG00000066777.9	transcript	ENST00000262215.8	protein_coding	1/38			chr8	TogoVar
ARFGEF1_chr8_67192658_67348781	67345577	T T	TTCTCCAA others(3): Show TTCTCCAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	208	0.0048	10	c.-22 others(21): Show c.-2291_-2290insCTCTTGGAGA	ARFGEF1	ENSG00000066777.9	transcript	ENST00000262215.8	protein_coding		1797		chr8	TogoVar
ARFGEF2_chr20_48916711_49041693	48950805	A A	AATATATA others(3): Show AATATATATAT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0291 a0001c0002t0009g0291	1	352	0.0028	10	c.277 others(25): Show c.277-517_277-516insTATATATATA	ARFGEF2	ENSG00000124198.10	transcript	ENST00000371917.5	protein_coding	3/38		INFO_REALIGN_3_PRIME	chr20	TogoVar
ARFGEF2_chr20_48916711_49041693	48950809	A A	AATATATA others(3): Show AATATATATAT	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0285 a0001c0002t0001g0285	1	352	0.0028	10	c.277 others(25): Show c.277-513_277-512insTATATATATA	ARFGEF2	ENSG00000124198.10	transcript	ENST00000371917.5	protein_coding	3/38		INFO_REALIGN_3_PRIME	chr20	TogoVar
ARFGEF2_chr20_48916711_49041693	48950811	A A	AATATATA others(3): Show AATATATATAT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0308 a0001c0002t0001g0308	1	352	0.0028	10	c.277 others(25): Show c.277-485_277-476dupATATATATAT	ARFGEF2	ENSG00000124198.10	transcript	ENST00000371917.5	protein_coding	3/38		INFO_REALIGN_3_PRIME	chr20	TogoVar
ARFGEF2_chr20_48916711_49041693	48960447	A A	ACTGTACA others(3): Show ACTGTACACTT	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0284 a0001c0002t0001g0284	1	352	0.0028	10	c.839 others(27): Show c.839-3382_839-3373dupCTGTACACTT	ARFGEF2	ENSG00000124198.10	transcript	ENST00000371917.5	protein_coding	6/38		INFO_REALIGN_3_PRIME	chr20	TogoVar
ARFGEF2_chr20_48916711_49041693	48975800	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00673.hp2 HG00741.hp1 others(33): Show HG00639.hp1 HG00673.hp2 HG00741.hp1 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01192.hp1 HG02015.hp1 HG02071.hp2 HG02080.hp2 HG02109.hp2 HG02135.hp2 HG02257.hp2 HG02738.hp2 HG02809.hp2 HG03654.hp2 HG06807.hp2 NA18949.hp1 NA18950.hp2 NA18960.hp1 NA18970.hp1 NA18971.hp2 NA18977.hp2 NA18979.hp2 NA18982.hp2 NA18999.hp1 NA19001.hp2 NA19012.hp1 NA19043.hp2 NA19063.hp1 NA19070.hp2 NA19074.hp2 NA19080.hp1 NA19081.hp1 NA19083.hp1 NA20805.hp2	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0008	a0001c0002 a0003c0007 a0006c0011 others(1): Show a0001c0002 a0003c0007 a0006c0011 a0008c0009	a0001c0002t0001 a0001c0002t0005 a0001c0002t0009 others(3): Show a0001c0002t0001 a0001c0002t0005 a0001c0002t0009 a0003c0007t0001 a0006c0011t0001 a0008c0009t0001	a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 others(33): Show a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0002t0001g0285 a0001c0002t0001g0286 a0001c0002t0001g0287 a0001c0002t0001g0290 a0001c0002t0001g0292 a0001c0002t0001g0293 a0001c0002t0001g0294 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0304 a0001c0002t0001g0305 a0001c0002t0001g0306 a0001c0002t0001g0307 a0001c0002t0001g0308 a0001c0002t0001g0309 a0001c0002t0001g0310 a0001c0002t0001g0311 a0001c0002t0001g0315 a0001c0002t0001g0316 a0001c0002t0005g0017 a0001c0002t0005g0022 a0001c0002t0009g0291 a0003c0007t0001g0302 a0003c0007t0001g0303 a0006c0011t0001g0301 a0008c0009t0001g0289	36	352	0.1023	10	c.177 others(27): Show c.1775-213_1775-204dupAAAAAAAAAA	ARFGEF2	ENSG00000124198.10	transcript	ENST00000371917.5	protein_coding	13/38		INFO_REALIGN_3_PRIME	chr20	TogoVar
ARFGEF2_chr20_48916711_49041693	48976935	C C	CATTTTAT others(3): Show CATTTTATTTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0020 a0001c0002t0005g0020	1	352	0.0028	10	c.195 others(27): Show c.1958+774_1958+783dupTTTATTTTAT	ARFGEF2	ENSG00000124198.10	transcript	ENST00000371917.5	protein_coding	14/38		INFO_REALIGN_3_PRIME	chr20	TogoVar
ARFGEF2_chr20_48916711_49041693	49027718	G G	GAAGAACA others(3): Show GAAGAACAGTA	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0074 a0001c0003t0001g0074	1	352	0.0028	10	c.492 others(27): Show c.4925-811_4925-802dupAAGAACAGTA	ARFGEF2	ENSG00000124198.10	transcript	ENST00000371917.5	protein_coding	36/38		INFO_REALIGN_3_PRIME	chr20	TogoVar
ARFGEF3_chr6_138156939_138349663	138266848	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02258.hp2 HG02615.hp2 others(3): Show HG01109.hp1 HG02258.hp2 HG02615.hp2 HG02622.hp2 HG03139.hp2 NA18968.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0003 a0002c0008 others(3): Show a0001c0001 a0002c0003 a0002c0008 a0002c0011 a0002c0041 a0007c0040	a0001c0001t0008 a0002c0003t0002 a0002c0008t0047 others(3): Show a0001c0001t0008 a0002c0003t0002 a0002c0008t0047 a0002c0011t0046 a0002c0041t0002 a0007c0040t0015	a0001c0001t0008g0179 a0002c0003t0002g0055 a0002c0008t0047g0076 others(3): Show a0001c0001t0008g0179 a0002c0003t0002g0055 a0002c0008t0047g0076 a0002c0011t0046g0066 a0002c0041t0002g0075 a0007c0040t0015g0093	6	190	0.0316	10	c.212 others(29): Show c.2128+3245_2128+3254dupAAAAAAAAAA	ARFGEF3	ENSG00000112379.9	transcript	ENST00000251691.5	protein_coding	12/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
ARFGEF3_chr6_138156939_138349663	138270427	G G	GACACACA others(3): Show GACACACACAC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01081.hp1 HG01109.hp2 others(19): Show HG01071.hp1 HG01081.hp1 HG01109.hp2 HG02132.hp1 HG02698.hp2 HG03239.hp2 HG03492.hp2 HG03834.hp1 HG04199.hp1 HG04204.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA19004.hp1 NA19010.hp1 NA19058.hp2 NA19079.hp2 NA19083.hp1 NA19083.hp2 NA19088.hp1 NA20129.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0005 a0002c0002 others(4): Show a0001c0001 a0001c0005 a0002c0002 a0002c0003 a0002c0013 a0004c0042 a0004c0043	a0001c0001t0001 a0001c0001t0004 a0001c0001t0014 others(10): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0014 a0001c0001t0018 a0001c0005t0008 a0001c0005t0024 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0003t0002 a0002c0013t0044 a0004c0042t0001 a0004c0043t0011	a0001c0001t0001g0022 a0001c0001t0001g0094 a0001c0001t0001g0104 others(19): Show a0001c0001t0001g0022 a0001c0001t0001g0094 a0001c0001t0001g0104 a0001c0001t0001g0140 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0004g0139 a0001c0001t0014g0172 a0001c0001t0018g0072 a0001c0005t0008g0003 a0001c0005t0024g0151 a0002c0002t0001g0018 a0002c0002t0003g0050 a0002c0002t0003g0113 a0002c0002t0004g0048 a0002c0003t0002g0034 a0002c0013t0044g0044 a0004c0042t0001g0031 a0004c0043t0011g0037	22	190	0.1158	10	c.212 others(29): Show c.2128+6844_2128+6853dupCACACACACA	ARFGEF3	ENSG00000112379.9	transcript	ENST00000251691.5	protein_coding	12/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
ARFGEF3_chr6_138156939_138349663	138270463	C C	CACACACA others(3): Show CACACACACAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02717.hp2 HG02055.hp2 HG02717.hp2	a0001 a0002 a0001 a0002	a0001c0033 a0002c0006 a0001c0033 a0002c0006	a0001c0033t0005 a0002c0006t0021 a0001c0033t0005 a0002c0006t0021	a0001c0033t0005g0023 a0002c0006t0021g0008 a0001c0033t0005g0023 a0002c0006t0021g0008	2	190	0.0105	10	c.212 others(29): Show c.2128+6853_2128+6854insCACACACATA	ARFGEF3	ENSG00000112379.9	transcript	ENST00000251691.5	protein_coding	12/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
ARFIP1_chr4_152774954_152917357	152782223	G G	GGTGTGTG others(3): Show GGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0322 a0001c0001t0004g0322	1	342	0.0029	10	c.-10 others(27): Show c.-10+2024_-10+2033dupGTGTGTGTGT	ARFIP1	ENSG00000164144.16	transcript	ENST00000353617.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARFIP1_chr4_152774954_152917357	152795820	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00438.hp2 others(27): Show HG00099.hp1 HG00280.hp1 HG00438.hp2 HG00741.hp1 HG01081.hp2 HG01169.hp1 HG01175.hp2 HG01515.hp1 HG02132.hp1 HG02258.hp2 HG02615.hp2 HG02622.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG03453.hp2 HG03669.hp2 HG04115.hp1 NA18939.hp2 NA18940.hp2 NA18942.hp2 NA18952.hp1 NA18968.hp1 NA18980.hp1 NA18990.hp1 NA18997.hp1 NA18998.hp1 NA19059.hp2 NA19064.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0084 a0001c0001t0001g0205 a0001c0001t0001g0212 others(27): Show a0001c0001t0001g0084 a0001c0001t0001g0205 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0267 a0001c0001t0001g0271 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0321 a0001c0001t0001g0339 a0001c0001t0002g0085 a0001c0001t0002g0089 a0001c0001t0002g0192 a0001c0001t0002g0203 a0001c0001t0005g0309	30	342	0.0877	10	c.-10 others(29): Show c.-10+15617_-10+15626dupTTTTTTTTTT	ARFIP1	ENSG00000164144.16	transcript	ENST00000353617.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARFIP1_chr4_152774954_152917357	152808283	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01169.hp1 HG02074.hp2 others(3): Show HG00280.hp1 HG01169.hp1 HG02074.hp2 HG02572.hp1 HG02976.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0213 a0001c0001t0001g0218 a0001c0001t0002g0037 others(3): Show a0001c0001t0001g0213 a0001c0001t0001g0218 a0001c0001t0002g0037 a0001c0001t0002g0265 a0001c0001t0003g0127 a0001c0001t0007g0102	6	342	0.0175	10	c.-9- others(27): Show c.-9-21317_-9-21308dupTTTTTTTTTT	ARFIP1	ENSG00000164144.16	transcript	ENST00000353617.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARFIP1_chr4_152774954_152917357	152847124	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02735.hp1 HG03492.hp2 others(1): Show HG02615.hp1 HG02735.hp1 HG03492.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0334 a0001c0001t0002g0194 a0001c0001t0002g0327 others(1): Show a0001c0001t0001g0334 a0001c0001t0002g0194 a0001c0001t0002g0327 a0001c0001t0002g0328	4	342	0.0117	10	c.94- others(27): Show c.94-16467_94-16458dupTTTTTTTTTT	ARFIP1	ENSG00000164144.16	transcript	ENST00000353617.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARFIP1_chr4_152774954_152917357	152904176	G G	GTATATAT others(3): Show GTATATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0198 a0001c0002t0002g0198	1	342	0.0029	10	c.967 others(27): Show c.967-5887_967-5886insATATATATAT	ARFIP1	ENSG00000164144.16	transcript	ENST00000353617.7	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARFIP1_chr4_152774954_152917357	152904198	A A	ATATATAT others(3): Show ATATATATATT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02258.hp1 NA18522.hp2 HG02145.hp2 HG02258.hp1 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0197 a0001c0002t0002g0199 a0001c0002t0002g0313 a0001c0002t0002g0197 a0001c0002t0002g0199 a0001c0002t0002g0313	3	342	0.0088	10	c.967 others(27): Show c.967-5865_967-5864insATATATATTT	ARFIP1	ENSG00000164144.16	transcript	ENST00000353617.7	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARFIP1_chr4_152774954_152917357	152905545	G G	GTTTTTTT others(3): Show GTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG03579.hp1 others(1): Show HG02896.hp1 HG02897.hp1 HG03579.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0264 others(1): Show a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0264 a0001c0001t0005g0298	4	342	0.0117	10	c.967 others(27): Show c.967-4503_967-4494dupTTTTTTTTTT	ARFIP1	ENSG00000164144.16	transcript	ENST00000353617.7	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARFIP1_chr4_152774954_152917357	152908891	A A	AGTGTGTG others(3): Show AGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18956.hp1 NA18975.hp2 NA18939.hp1 NA18956.hp1 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0052 a0001c0001t0002g0058 a0001c0001t0002g0027 a0001c0001t0002g0052 a0001c0001t0002g0058	3	342	0.0088	10	c.967 others(27): Show c.967-1132_967-1123dupGTGTGTGTGT	ARFIP1	ENSG00000164144.16	transcript	ENST00000353617.7	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARFRP1_chr20_63693647_63712976	63693699	A A	ACACACCA others(3): Show ACACACCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	296	0.0034	10	c.67 others(21): Show c.6743_*6744insAGGTGGTGTG	ARFRP1	ENSG00000101246.20	transcript	ENST00000622789.5	protein_coding		4947		chr20	TogoVar
ARFRP1_chr20_63693647_63712976	63693744	A A	ACCACCTC others(3): Show ACCACCTCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0029 a0001c0002t0002g0029	1	296	0.0034	10	c.66 others(21): Show c.6698_*6699insGTGGAGGTGG	ARFRP1	ENSG00000101246.20	transcript	ENST00000622789.5	protein_coding		4902		chr20	TogoVar
ARG1_chr6_131568226_131589329	131584363	A A	AACACACA others(3): Show AACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	420	0.0024	10	c.45 others(19): Show c.455_*456insACACACACAC	ARG1	ENSG00000118520.16	transcript	ENST00000368087.8	protein_coding		35		chr6	TogoVar
ARG1_chr6_131568226_131589329	131584816	T T	TACACACA others(3): Show TACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02280.hp2 HG02622.hp1 others(2): Show HG02257.hp1 HG02280.hp2 HG02622.hp1 HG03195.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0020 a0001c0001t0001g0069 a0001c0001t0001g0072	5	420	0.0119	10	c.90 others(19): Show c.908_*909insACACACACAC	ARG1	ENSG00000118520.16	transcript	ENST00000368087.8	protein_coding		488		chr6	TogoVar
ARG2_chr14_67614920_67656708	67627256	G G	GATATATA others(3): Show GATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01516.hp2 HG01993.hp1 others(17): Show HG01069.hp2 HG01516.hp2 HG01993.hp1 HG02071.hp2 HG02572.hp1 HG02622.hp2 HG02818.hp1 HG03209.hp1 HG03471.hp1 NA18747.hp2 NA18941.hp1 NA18954.hp1 NA18957.hp1 NA18963.hp2 NA18968.hp1 NA18993.hp2 NA19006.hp1 NA19058.hp2 NA19064.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0077 a0001c0001t0001g0194 a0001c0001t0002g0220 others(16): Show a0001c0001t0001g0077 a0001c0001t0001g0194 a0001c0001t0002g0220 a0001c0001t0003g0017 a0001c0001t0003g0057 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0114 a0001c0001t0003g0116 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0197	20	438	0.0457	10	c.184 others(27): Show c.184+6307_184+6316dupATATATATAT	ARG2	ENSG00000081181.8	transcript	ENST00000261783.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
ARGFX_chr3_121562949_121595622	121576707	T T	TTCTTTCT others(3): Show TTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03225.hp1 HG02258.hp2 HG03225.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0008 a0003c0003t0026 a0003c0003t0008 a0003c0003t0026	a0003c0003t0008g0345 a0003c0003t0026g0389 a0003c0003t0008g0345 a0003c0003t0026g0389	2	410	0.0049	10	c.104 others(23): Show c.104-76_104-75insCTTTCTTTCT	ARGFX	ENSG00000186103.5	transcript	ENST00000334384.5	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARGFX_chr3_121562949_121595622	121577226	C C	CATATATA others(3): Show CATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01106.hp2 HG02040.hp1 others(1): Show HG00609.hp2 HG01106.hp2 HG02040.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0037 a0001c0001t0001 a0001c0001t0006 a0001c0001t0037	a0001c0001t0001g0239 a0001c0001t0001g0259 a0001c0001t0006g0288 others(1): Show a0001c0001t0001g0239 a0001c0001t0001g0259 a0001c0001t0006g0288 a0001c0001t0037g0090	4	410	0.0098	10	c.220 others(25): Show c.220+351_220+360dupATATATATAT	ARGFX	ENSG00000186103.5	transcript	ENST00000334384.5	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARGFX_chr3_121562949_121595622	121577259	A A	ATATATAT others(3): Show ATATATATATT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01257.hp2 NA18950.hp1 others(1): Show HG00741.hp2 HG01257.hp2 NA18950.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0235 a0001c0001t0001g0250 a0001c0001t0001g0293 others(1): Show a0001c0001t0001g0235 a0001c0001t0001g0250 a0001c0001t0001g0293 a0001c0001t0002g0112	4	410	0.0098	10	c.220 others(25): Show c.220+360_220+361insATATATATTT	ARGFX	ENSG00000186103.5	transcript	ENST00000334384.5	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARGFX_chr3_121562949_121595622	121577259	A A	ATATATAT others(3): Show ATATATATTTT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0344 a0001c0001t0012g0344	1	410	0.0024	10	c.220 others(25): Show c.220+360_220+361insATATATTTTT	ARGFX	ENSG00000186103.5	transcript	ENST00000334384.5	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARGFX_chr3_121562949_121595622	121577259	A A	ATATATTT others(3): Show ATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0342 a0001c0001t0012g0343 a0001c0001t0012g0342 a0001c0001t0012g0343	2	410	0.0049	10	c.220 others(25): Show c.220+360_220+361insATATTTTTTT	ARGFX	ENSG00000186103.5	transcript	ENST00000334384.5	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARGFX_chr3_121562949_121595622	121580567	A A	AGTGTGTG others(3): Show AGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02602.hp1 HG02602.hp2 others(11): Show HG02080.hp2 HG02602.hp1 HG02602.hp2 HG03669.hp2 NA18946.hp2 NA18960.hp1 NA18971.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18988.hp1 NA18994.hp2 NA18999.hp2 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0035	a0001c0001t0003g0004 a0001c0001t0003g0030 a0001c0001t0003g0033 others(11): Show a0001c0001t0003g0004 a0001c0001t0003g0030 a0001c0001t0003g0033 a0001c0001t0003g0105 a0001c0001t0003g0122 a0001c0001t0003g0132 a0001c0001t0003g0135 a0001c0001t0003g0141 a0001c0001t0005g0004 a0001c0001t0005g0223 a0001c0001t0011g0005 a0001c0001t0011g0143 a0001c0001t0011g0144 a0001c0001t0035g0005	14	410	0.0342	10	c.220 others(27): Show c.220+3686_220+3695dupGTGTGTGTGT	ARGFX	ENSG00000186103.5	transcript	ENST00000334384.5	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARGFX_chr3_121562949_121595622	121580594	G G	GTGTGTGT others(3): Show GTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02922.hp2 HG02280.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0102 a0001c0001t0005g0103 a0001c0001t0002g0102 a0001c0001t0005g0103	2	410	0.0049	10	c.220 others(27): Show c.220+3695_220+3696insGTGTGTATAT	ARGFX	ENSG00000186103.5	transcript	ENST00000334384.5	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARGFX_chr3_121562949_121595622	121580594	G G	GTGTGTGT others(3): Show GTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG04199.hp1 NA18961.hp1 HG01934.hp2 HG04199.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0003 a0001c0001t0011	a0001c0001t0003g0079 a0001c0001t0003g0140 a0001c0001t0011g0085 a0001c0001t0003g0079 a0001c0001t0003g0140 a0001c0001t0011g0085	3	410	0.0073	10	c.220 others(27): Show c.220+3695_220+3696insGTGTGTGTAT	ARGFX	ENSG00000186103.5	transcript	ENST00000334384.5	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARGLU1_chr13_106536673_106573137	106540314	C C	CGGGGGGG others(3): Show CGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02145.hp1 HG01109.hp2 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0063 a0001c0001t0002g0124 a0001c0001t0001g0063 a0001c0001t0002g0124	2	376	0.0053	10	c.36 others(21): Show c.3681_*3682insCCCCCCCCCC	ARGLU1	ENSG00000134884.15	transcript	ENST00000400198.8	protein_coding		1358		chr13	TogoVar
ARHGAP10_chr4_147727088_148077776	147736120	C C	CTGTGTGT others(3): Show CTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03492.hp2 HG02615.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0036 a0001c0005t0001g0098 a0001c0001t0001g0036 a0001c0005t0001g0098	2	106	0.0189	10	c.154 others(27): Show c.154+3690_154+3699dupTGTGTGTGTG	ARHGAP10	ENSG00000071205.12	transcript	ENST00000336498.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr4	TogoVar

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