Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
USP50_chr15_50495562_50551666	50537906	G G	GAGGGGAG others(33): Show GAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02630.hp2 HG03669.hp1 HG01975.hp2 HG02630.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0031 a0001c0001t0001g0052 a0001c0001t0001g0023 a0001c0001t0001g0031 a0001c0001t0001g0052	3	384	0.0078	40	c.803 others(55): Show c.803+802_803+803insTCCCTTCCCTTCCCTTCCCTTCCCTTCCCT TCCCTCCCCT	USP50	ENSG00000170236.16	transcript	ENST00000532404.6	protein_coding	5/6			chr15	TogoVar
USP53_chr4_119207713_119300518	119213660	A A	AGATATAT others(33): Show AGATATATATATATATATATATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0321 a0001c0004t0005g0321	1	380	0.0026	40	c.-94 others(57): Show c.-941-410_-941-409insGATATATATATATATATATATGTGTGTG TGTGTGTGTGTG	USP53	ENSG00000145390.12	transcript	ENST00000692078.1	protein_coding	1/18			chr4	TogoVar
USP53_chr4_119207713_119300518	119213660	A A	ATATATAT others(33): Show ATATATATATATATATATATATATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0024 a0010c0011t0024	a0010c0011t0024g0214 a0010c0011t0024g0214	1	380	0.0026	40	c.-94 others(57): Show c.-941-409_-941-408insATATATATATATATATATATATGTGTGT GTGTGTGTGTGT	USP53	ENSG00000145390.12	transcript	ENST00000692078.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
USP53_chr4_119207713_119300518	119213660	A A	ATATATAT others(33): Show ATATATATATATATATATATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03540.hp1 HG03486.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0034 a0001c0001t0024 a0001c0001t0034	a0001c0001t0024g0216 a0001c0001t0034g0215 a0001c0001t0024g0216 a0001c0001t0034g0215	2	380	0.0053	40	c.-94 others(57): Show c.-941-409_-941-408insATATATATATATATATATGTGTGTGTGT GTGTGTGTGTGT	USP53	ENSG00000145390.12	transcript	ENST00000692078.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
USP53_chr4_119207713_119300518	119213660	A A	ATATATAT others(33): Show ATATATATATATATGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0317 a0001c0003t0004g0317	1	380	0.0026	40	c.-94 others(57): Show c.-941-409_-941-408insATATATATATATGTGTGTGTGTGTGTGT GTGTGTGTGTGT	USP53	ENSG00000145390.12	transcript	ENST00000692078.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
USP53_chr4_119207713_119300518	119227256	T T	TATACACA others(33): Show TATACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0023 a0004c0009t0023	a0004c0009t0023g0222 a0004c0009t0023g0222	1	380	0.0026	40	c.-66 others(59): Show c.-664-8033_-664-8032insTACACACACACACACACACACACACA CACACACACACACA	USP53	ENSG00000145390.12	transcript	ENST00000692078.1	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
USP7_chr16_8887097_8968906	8897726	A A	AAAAAATA others(33): Show AAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	338	0.0030	40	c.271 others(57): Show c.2719-628_2719-627insATATATATATATATATATATATATATAT ATATATATTTTT	USP7	ENSG00000187555.17	transcript	ENST00000344836.9	protein_coding	25/30			chr16	TogoVar
USP8_chr15_50419405_50519421	50450462	C C	CTTTTTTT others(33): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0153 a0002c0003t0153	a0002c0003t0153g0083 a0002c0003t0153g0083	1	382	0.0026	40	c.335 others(57): Show c.335+1001_335+1002insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	USP8	ENSG00000138592.14	transcript	ENST00000307179.9	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr15	TogoVar
UTP20_chr12_101275105_101391618	101310577	C C	CAAAAAAA others(33): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0278 a0004c0009t0001g0278	1	356	0.0028	40	c.223 others(57): Show c.2231+759_2231+760insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	UTP20	ENSG00000120800.5	transcript	ENST00000261637.5	protein_coding	19/61		INFO_REALIGN_3_PRIME	chr12	TogoVar
UTRN_chr6_144280335_144858034	144360094	C C	CCCCTCCC others(33): Show CCCCTCCCCTCCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA19079.hp1 NA18956.hp2 NA19079.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0021 a0001c0002t0004 a0001c0002t0021	a0001c0002t0004g0076 a0001c0002t0021g0050 a0001c0002t0004g0076 a0001c0002t0021g0050	2	128	0.0156	40	c.80- others(57): Show c.80-43015_80-43014insTCCCTTCCCTTCCCTTCCCTTCCCTTCC CTCCCCTCCCCT	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	2/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
UTS2_chr1_7842612_7858065	7857100	A A	AAAGGAAG others(33): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	468	0.0021	40	c.-40 others(51): Show c.-4098_-4097insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTT	UTS2	ENSG00000049247.14	transcript	ENST00000361696.10	protein_coding		4036		chr1	TogoVar
VAC14_chr16_70682439_70806158	70761016	T T	TGTGTGTG others(33): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0296 a0001c0005t0006g0296	1	322	0.0031	40	c.137 others(59): Show c.1371+1523_1371+1524insGCACACACACACACACACACACACAC ACACACACACACAC	VAC14	ENSG00000103043.15	transcript	ENST00000261776.10	protein_coding	12/18			chr16	TogoVar
VAMP2_chr17_8154149_8167948	8163058	G G	GGCGGGGC others(33): Show GGCGGGGCGCTGCGGGGCGCTGCGGGGCGCTGCGGGGCGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	414	0.0024	40	c.-18 others(49): Show c.-180_-179insAGCGCCCCGCAGCGCCCCGCAGCGCCCCGCAGCGCC CCGC	VAMP2	ENSG00000220205.10	transcript	ENST00000316509.11	protein_coding		111		chr17	TogoVar
VAV1_chr19_6767708_6862361	6814671	C C	CCTTCCTT others(33): Show CCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	306	0.0033	40	c.205 others(57): Show c.205-6028_205-6027insCCTTCCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTT	VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
VAV1_chr19_6767708_6862361	6814671	C C	CCTTCCTT others(33): Show CCTTCCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	306	0.0033	40	c.205 others(57): Show c.205-6028_205-6027insCCTTTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTTTCTT	VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
VAV1_chr19_6767708_6862361	6814671	C C	CCTTCCTT others(33): Show CCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	306	0.0033	40	c.205 others(57): Show c.205-6028_205-6027insCCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTT	VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
VAV1_chr19_6767708_6862361	6814671	C C	CCTTTCTT others(33): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0296	1	306	0.0033	40	c.205 others(57): Show c.205-6009_205-5970dupTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTC	VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
VAV1_chr19_6767708_6862361	6814673	T T	TTCCTTCC others(33): Show TTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	306	0.0033	40	c.205 others(57): Show c.205-6028_205-6027insCCTTCCTTCCTTCCTTTCCTTCCTTCCT TCCTTCCTTCCT	VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
VAV1_chr19_6767708_6862361	6814674	T T	TCCTTCCT others(33): Show TCCTTCCTTCCTTCCTTCCTTCCTTTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	306	0.0033	40	c.205 others(57): Show c.205-6028_205-6027insCCTTCCTTCCTTCCTTCCTTCCTTTCTC TCTCTCTCTCTC	VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	1/26			chr19	TogoVar
VAV2_chr9_133756894_133997324	133969133	C C	CCGAGAGC others(33): Show CCGAGAGCTGGATTCCACCGTGCCCGCCGGGCCTGCGAGGA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01167.hp2 HG01884.hp1 others(2): Show HG01106.hp1 HG01167.hp2 HG01884.hp1 HG02630.hp2 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0007 others(1): Show a0001c0002 a0001c0003 a0001c0007 a0001c0012	a0001c0002t0001 a0001c0002t0002 a0001c0003t0002 others(2): Show a0001c0002t0001 a0001c0002t0002 a0001c0003t0002 a0001c0007t0003 a0001c0012t0007	a0001c0002t0001g0118 a0001c0002t0002g0019 a0001c0003t0002g0119 others(2): Show a0001c0002t0001g0118 a0001c0002t0002g0019 a0001c0003t0002g0119 a0001c0007t0003g0082 a0001c0012t0007g0080	5	200	0.0250	40	c.204 others(59): Show c.204+22902_204+22941dupTCCTCGCAGGCCCGGCGGGCACGGTG GAATCCAGCTCTCG	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	1/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133969201	G G	GGGCCTGC others(33): Show GGGCCTGCGAGGACGAGAGCTGGATTCCACCGTGCCCGCCA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0081 a0001c0006t0002g0081	1	200	0.0050	40	c.204 others(59): Show c.204+22873_204+22874insTGGCGGGCACGGTGGAATCCAGCTCT CGTCCTCGCAGGCC	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	1/29			chr9	TogoVar
VAV3_chr1_107566161_107970180	107753513	C C	CACACATA others(33): Show CACACATATATATACACACATATATATATACATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02886.hp1 HG01358.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0136 a0001c0001t0004g0030 a0001c0001t0001g0136 a0001c0001t0004g0030	2	210	0.0095	40	c.117 others(59): Show c.1173+1913_1173+1914insATATATATATGTATATATATATGTGT GTATATATATGTGT	VAV3	ENSG00000134215.16	transcript	ENST00000370056.9	protein_coding	12/26			chr1	TogoVar
VAV3_chr1_107566161_107970180	107753513	C C	CACACATA others(33): Show CACACATATATATACACACATATATATATATACACATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0033 a0001c0001t0004g0033	1	210	0.0048	40	c.117 others(59): Show c.1173+1913_1173+1914insATATATGTGTATATATATATATGTGT GTATATATATGTGT	VAV3	ENSG00000134215.16	transcript	ENST00000370056.9	protein_coding	12/26			chr1	TogoVar
VAX1_chr10_117128290_117143270	117136816	T T	TGTGGAGG others(33): Show TGTGGAGGGCAAGGGGCCTAACTCCATACCGCTGACCGAAG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	456	0.0022	40	c.242 others(55): Show c.242-197_242-158dupCTTCGGTCAGCGGTATGGAGTTAGGCCCCT TGCCCTCCAC	VAX1	ENSG00000148704.13	transcript	ENST00000369206.6	protein_coding	1/2			chr10	TogoVar
VCL_chr10_73993116_74125169	74018177	G G	GATATATA others(33): Show GATATATATATATATATATATATATATATAAATACATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0004 a0004	a0004c0020 a0004c0020	a0004c0020t0015 a0004c0020t0015	a0004c0020t0015g0007 a0004c0020t0015g0007	1	264	0.0038	40	c.168 others(59): Show c.168+19827_168+19828insTATAAATACATATATATATATATATA TATATATATATATA	VCL	ENSG00000035403.18	transcript	ENST00000211998.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
VCPIP1_chr8_66623487_66672231	66638970	C C	CTCTCTCT others(33): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0021 a0001c0003t0002g0021	1	258	0.0039	40	c.279 others(59): Show c.2798-3599_2798-3598insTATATAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGA	VCPIP1	ENSG00000175073.8	transcript	ENST00000310421.5	protein_coding	2/2			chr8	TogoVar
VCX2_chrX_8164944_8176267	8169105	C C	CCTCCCCA others(33): Show CCTCCCCACACACCTCCTCTCTCCTCCCTCCCCACACACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0004 a0002c0001t0001g0004	1	115	0.0087	40	c.92 others(49): Show c.926_*927insAGGTGTGTGGGGAGGGAGGAGAGAGGAGGTGTGTGG GGAG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		838		chrX	TogoVar
VCX3A_chrX_6528618_6540118	6532996	T T	TCCTCTCC others(33): Show TCCTCTCCCTCCCTCCCTCCCTCCCCACACACCACCTCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0015 a0006c0007t0015	a0006c0007t0015g0045 a0006c0007t0015g0045	1	74	0.0135	40	c.74 others(49): Show c.748_*749insGGAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGA GAGG	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		621		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8462560	T T	TGAAAACA others(33): Show TGAAAACAGCAACTATAGTGATGGTTACCAGAGGCCAGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0031 a0031	a0031c0101 a0031c0101	a0031c0101t0003 a0031c0101t0003	a0031c0101t0003g0040 a0031c0101t0003g0040	1	271	0.0037	40	c.-25 others(51): Show c.-2577_-2576insGAAAACAGCAACTATAGTGATGGTTACCAGAGGC CAGAAG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		2269		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8466718	A A	AGGTGGTG others(33): Show AGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 NA19066.hp1 HG03491.hp2 NA19066.hp1	a0002 a0022 a0002 a0022	a0002c0002 a0022c0024 a0002c0002 a0022c0024	a0002c0002t0002 a0022c0024t0002 a0002c0002t0002 a0022c0024t0002	a0002c0002t0002g0006 a0022c0024t0002g0006 a0002c0002t0002g0006 a0022c0024t0002g0006	2	271	0.0074	40	c.33 others(49): Show c.335_*336insGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAG AGGT	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		209		chrX	TogoVar
VDAC1_chr5_133966871_134009975	133971061	C C	CGGGAGGC others(33): Show CGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 NA19077.hp1 HG00323.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0045 a0001c0002t0001g0203 a0001c0001t0003g0045 a0001c0002t0001g0203	2	394	0.0051	40	c.17 others(51): Show c.1709_*1710insCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAG CCTCCC	VDAC1	ENSG00000213585.11	transcript	ENST00000265333.8	protein_coding		809		chr5	TogoVar
VEGFB_chr11_64229584_64244264	64237085	A A	AAGAGAGA others(33): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA19077.hp2 HG02723.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0072 a0001c0001t0001g0073	2	328	0.0061	40	c.375 others(53): Show c.375-64_375-63insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAG	VEGFB	ENSG00000173511.10	transcript	ENST00000309422.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
VEGFB_chr11_64229584_64244264	64237123	G G	GAGAGAGA others(33): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	328	0.0031	40	c.375 others(53): Show c.375-64_375-63insAGAGAGAGAGAGAGAGAGAGAGAGAGGAGAGA GAGAGAGA	VEGFB	ENSG00000173511.10	transcript	ENST00000309422.7	protein_coding	4/6			chr11	TogoVar
VEPH1_chr3_157254742_157508416	157304038	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0065 a0002c0003t0002g0065	1	304	0.0033	40	c.201 others(59): Show c.2010+9582_2010+9583insGTGTGTGTATATATATATATATATAT ATATATATATATAT	VEPH1	ENSG00000197415.12	transcript	ENST00000362010.7	protein_coding	11/13			chr3	TogoVar
VEPH1_chr3_157254742_157508416	157304038	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01516.hp1 HG01517.hp1 others(7): Show HG01074.hp2 HG01516.hp1 HG01517.hp1 HG01978.hp1 HG02071.hp1 HG02155.hp1 HG03831.hp2 NA18974.hp2 NA19002.hp1 NA19070.hp1	a0002 a0004 a0002 a0004	a0002c0003 a0004c0012 a0002c0003 a0004c0012	a0002c0003t0002 a0004c0012t0002 a0002c0003t0002 a0004c0012t0002	a0002c0003t0002g0035 a0002c0003t0002g0041 a0002c0003t0002g0046 others(7): Show a0002c0003t0002g0035 a0002c0003t0002g0041 a0002c0003t0002g0046 a0002c0003t0002g0064 a0002c0003t0002g0200 a0002c0003t0002g0218 a0002c0003t0002g0255 a0002c0003t0002g0289 a0002c0003t0002g0295 a0004c0012t0002g0288	10	304	0.0329	40	c.201 others(59): Show c.2010+9582_2010+9583insGTGTGTATATATATATATATATATAT ATATATATATATAT	VEPH1	ENSG00000197415.12	transcript	ENST00000362010.7	protein_coding	11/13			chr3	TogoVar
VGLL3_chr3_86932973_86996149	86966809	A A	ATATATAT others(33): Show ATATATATATATATATATATATAGTATATATATATAGTGTG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	370	0.0027	40	c.937 others(57): Show c.937+1780_937+1781insCACACTATATATATATACTATATATATA TATATATATATA	VGLL3	ENSG00000206538.9	transcript	ENST00000398399.7	protein_coding	3/3			chr3	TogoVar
VIRMA_chr8_94482689_94558469	94556361	A A	AATCTATA others(33): Show AATCTATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	346	0.0029	40	c.-29 others(51): Show c.-2915_-2914insATATATATATATATATATATATATATATATATAT ATAGAT	VIRMA	ENSG00000164944.12	transcript	ENST00000297591.10	protein_coding		2893		chr8	TogoVar
VN1R1_chr19_57449790_57462140	57457933	A A	AGTGTGTG others(33): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	430	0.0023	40	c.-14 others(51): Show c.-1448_-1447insACACACACACACACACACACACACACACACACAC ACACAC	VN1R1	ENSG00000178201.5	transcript	ENST00000321039.5	protein_coding		794		chr19	TogoVar
VN1R4_chr19_53261676_53272723	53270127	A A	ACGCTCCT others(33): Show ACGCTCCTCACTTCCTAGATGGGATGGCGGCCGGGAAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02723.hp2 HG02895.hp1 others(8): Show HG02258.hp1 HG02723.hp2 HG02895.hp1 HG02897.hp1 HG03098.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03486.hp2 NA18522.hp1 NA19030.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0003 a0005c0006 a0001c0001 a0003c0003 a0005c0006	a0001c0001t0001 a0003c0003t0001 a0005c0006t0001 a0001c0001t0001 a0003c0003t0001 a0005c0006t0001	a0001c0001t0001g0000 a0003c0003t0001g0000 a0005c0006t0001g0000 a0001c0001t0001g0000 a0003c0003t0001g0000 a0005c0006t0001g0000	11	456	0.0241	40	c.-24 others(51): Show c.-2463_-2462insCCTCTTCCCGGCCGCCATCCCATCTAGGAAGTGA GGAGCG	VN1R4	ENSG00000228567.3	transcript	ENST00000311170.5	protein_coding		2405		chr19	TogoVar
VNN2_chr6_132738870_132762904	132750497	G G	GTGTATGT others(33): Show GTGTATGTATATATGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG03453.hp1 HG03834.hp2 others(1): Show HG00423.hp1 HG03453.hp1 HG03834.hp2 NA19004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0031 a0001c0002t0001g0139 a0001c0002t0001g0031 a0001c0002t0001g0139	4	436	0.0092	40	c.120 others(57): Show c.1201-633_1201-632insTATATATATATATATATATATATACACA TATATACATACA	VNN2	ENSG00000112303.14	transcript	ENST00000326499.11	protein_coding	5/6			chr6	TogoVar
VNN2_chr6_132738870_132762904	132750497	G G	GTGTATGT others(33): Show GTGTATGTATATATGTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA21309.hp2 NA19043.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	2	436	0.0046	40	c.120 others(57): Show c.1201-633_1201-632insTATATATATATATATATATATACACACA TATATACATACA	VNN2	ENSG00000112303.14	transcript	ENST00000326499.11	protein_coding	5/6			chr6	TogoVar
VPS13A_chr9_77172534_77426537	77207237	A A	ATATATGT others(33): Show ATATATGTATATATATATATATATGTATATATATATATACG	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0276 a0001c0001t0003g0276	1	348	0.0029	40	c.385 others(57): Show c.385+1163_385+1164insGTATATATATATATATATGTATATATAT ATATACGTATAT	VPS13A	ENSG00000197969.14	transcript	ENST00000360280.8	protein_coding	5/71		INFO_REALIGN_3_PRIME	chr9	TogoVar
VPS13A_chr9_77172534_77426537	77207237	A A	ATATATGT others(33): Show ATATATGTATATATATATATATGTATATATATATATATACG	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0300 a0001c0002t0001g0300	1	348	0.0029	40	c.385 others(57): Show c.385+1163_385+1164insGTATATATATATATATGTATATATATAT ATATACGTATAT	VPS13A	ENSG00000197969.14	transcript	ENST00000360280.8	protein_coding	5/71		INFO_REALIGN_3_PRIME	chr9	TogoVar
VPS13D_chr1_12225030_12517047	12396029	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0021 a0001c0003t0021	a0001c0003t0021g0056 a0001c0003t0021g0056	1	154	0.0065	40	c.116 others(61): Show c.11635-4152_11635-4151insTATATATATATATATATATATATA TATATATATATATATT	VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	60/69			chr1	TogoVar
VPS13D_chr1_12225030_12517047	12433931	T T	TGAGAGAG others(33): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0009	a0001c0006t0009g0004 a0001c0006t0009g0004	1	154	0.0065	40	c.123 others(63): Show c.12333+17123_12333+17124insAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAG	VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	65/69		INFO_REALIGN_3_PRIME	chr1	TogoVar
VPS16_chr20_2835745_2871732	2842860	C C	CGATAGAT others(33): Show CGATAGATAGATAGATAGATGTATCGATAGATAGATAGATG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	408	0.0025	40	c.53+ others(55): Show c.53+2033_53+2034insGATAGATAGATAGATAGATGTATCGATAGA TAGATAGATG	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
VPS26A_chr10_69119178_69179412	69137862	G G	GATATATA others(33): Show GATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03486.hp1 HG02970.hp2 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0025 a0001c0002t0008g0029 a0001c0002t0008g0025 a0001c0002t0008g0029	2	336	0.0060	40	c.153 others(57): Show c.153+4835_153+4836insATATATATATATATATATATATATATAT ATATATATATAT	VPS26A	ENSG00000122958.15	transcript	ENST00000263559.11	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
VPS35L_chr16_19550703_19706163	19666927	T T	TCTTTCTT others(33): Show TCTTTCTTTCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02280.hp2 HG02818.hp2 HG01891.hp1 HG02280.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0203 a0001c0001t0002g0056 a0001c0001t0002g0200 a0001c0001t0001g0203 a0001c0001t0002g0056 a0001c0001t0002g0200	3	284	0.0106	40	c.222 others(59): Show c.2222-2226_2222-2225insTCTTTCTTCCTTTCTTCCTTTCTTCC TTTCTTCCTTTCTT	VPS35L	ENSG00000103544.17	transcript	ENST00000417362.7	protein_coding	26/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
VPS35L_chr16_19550703_19706163	19666961	T T	TTTCTTCC others(33): Show TTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0058 a0001c0003t0001g0058	1	284	0.0035	40	c.222 others(59): Show c.2222-2178_2222-2177insCCTTTCTTCCTTTCTTCCCTTCTTCC TTTCTTCCTTTCTT	VPS35L	ENSG00000103544.17	transcript	ENST00000417362.7	protein_coding	26/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
VPS4B_chr18_63384190_63427476	63398204	C C	CACACACA others(33): Show CACACACACACACACATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0187 a0001c0001t0004g0187	1	386	0.0026	40	c.873 others(55): Show c.873-952_873-951insATATATATATATATATATATATATATGTGT GTGTGTGTGT	VPS4B	ENSG00000119541.10	transcript	ENST00000238497.10	protein_coding	8/10			chr18	TogoVar

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