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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
USP45_chr6_99427325_99520423	99511841	GTGTGTAT others(23): Show GTGTGTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp2 HG00609.hp2 others(40): Show HG00140.hp1 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG01074.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01361.hp1 HG01515.hp1 HG01517.hp1 HG02071.hp2 HG02074.hp1 HG03491.hp2 HG03492.hp2 HG03669.hp2 HG03688.hp2 NA18944.hp2 NA18946.hp2 NA18948.hp1 NA18959.hp1 NA18965.hp1 NA18967.hp2 NA18974.hp1 NA18975.hp2 NA18978.hp1 NA18980.hp1 NA18983.hp2 NA18992.hp1 NA18993.hp2 NA18994.hp1 NA18998.hp2 NA18999.hp1 NA19003.hp1 NA19006.hp2 NA19010.hp2 NA19054.hp2 NA19078.hp2 NA19081.hp1 NA19084.hp1 NA19086.hp1 NA19091.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0012 others(1): Show a0001c0001 a0001c0006 a0001c0012 a0001c0024	a0001c0001t0002 a0001c0001t0004 a0001c0001t0017 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0017 a0001c0006t0002 a0001c0006t0003 a0001c0006t0025 a0001c0012t0009 a0001c0024t0004	a0001c0001t0002g0212 a0001c0001t0004g0002 a0001c0001t0004g0003 others(35): Show a0001c0001t0002g0212 a0001c0001t0004g0002 a0001c0001t0004g0003 a0001c0001t0004g0009 a0001c0001t0004g0018 a0001c0001t0004g0146 a0001c0001t0004g0194 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0004g0202 a0001c0001t0004g0203 a0001c0001t0004g0204 a0001c0001t0004g0205 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0001t0004g0208 a0001c0001t0004g0210 a0001c0001t0004g0213 a0001c0001t0004g0214 a0001c0001t0004g0216 a0001c0001t0004g0217 a0001c0001t0004g0219 a0001c0001t0004g0220 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0004g0255 a0001c0001t0017g0221 a0001c0006t0002g0211 a0001c0006t0002g0215 a0001c0006t0002g0218 a0001c0006t0003g0209 a0001c0006t0025g0386 a0001c0012t0009g0224 a0001c0024t0004g0201	43	406	0.1059	-30	c.-10 others(47): Show c.-10-1641_-10-1612delTATATATATATATATATATATATATACA CA		USP45	ENSG00000123552.18	transcript	ENST00000500704.7	protein_coding	1/17						chr6	TogoVar
USP46_chr4_52585960_52664301	52632960	GAAAGAAA others(23): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0026 a0001c0003t0026	a0001c0003t0026g0009 a0001c0003t0026g0009	1	192	0.0052	-30	c.37- others(45): Show c.37-1846_37-1817delTCTTTTCTTTCTTTCTTTCTTTCTTTCTTT		USP46	ENSG00000109189.13	transcript	ENST00000441222.8	protein_coding	1/8						chr4	TogoVar
USP47_chr11_11836972_11966887	11877830	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG01109.hp2 others(3): Show HG00280.hp1 HG00639.hp1 HG01109.hp2 HG01168.hp1 HG01169.hp2 HG03942.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0012 a0001c0006t0012	a0001c0006t0012g0066 a0001c0006t0012g0326 a0001c0006t0012g0327 others(3): Show a0001c0006t0012g0066 a0001c0006t0012g0326 a0001c0006t0012g0327 a0001c0006t0012g0328 a0001c0006t0012g0329 a0001c0006t0012g0330	6	386	0.0155	-30	c.40- others(45): Show c.40-2345_40-2316delTGTGTGTGTGTGTGTGTGTGTGTGTGTGCG		USP47	ENSG00000170242.19	transcript	ENST00000527733.7	protein_coding	1/27					INFO_REALIGN_3_PRIME	chr11	TogoVar
USP47_chr11_11836972_11966887	11923041	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02886.hp2 HG03098.hp2 HG02647.hp1 HG02886.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0014 a0001c0002t0003 a0001c0001t0014 a0001c0002t0003	a0001c0001t0014g0367 a0001c0002t0003g0007 a0001c0001t0014g0367 a0001c0002t0003g0007	3	386	0.0078	-30	c.138 others(47): Show c.1386+165_1386+194delATATATATATATATATATATATATATAT AT		USP47	ENSG00000170242.19	transcript	ENST00000527733.7	protein_coding	11/27					INFO_REALIGN_3_PRIME	chr11	TogoVar
USP6NL_chr10_11455510_11616650	11541230	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02027.hp2 HG02273.hp1 others(2): Show HG01358.hp1 HG02027.hp2 HG02273.hp1 NA18951.hp1 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0008 a0001c0002t0004 a0001c0002t0008 others(1): Show a0001c0001t0008 a0001c0002t0004 a0001c0002t0008 a0001c0004t0004	a0001c0001t0008g0200 a0001c0002t0004g0212 a0001c0002t0008g0199 others(2): Show a0001c0001t0008g0200 a0001c0002t0004g0212 a0001c0002t0008g0199 a0001c0004t0004g0201 a0001c0004t0004g0202	5	402	0.0124	-30	c.5-1 others(45): Show c.5-13693_5-13664delATATATATATATATATATATATATATATAT		USP6NL	ENSG00000148429.15	transcript	ENST00000609104.6	protein_coding	2/14						chr10	TogoVar
USP7_chr16_8887097_8968906	8964049	CCCGCCTG others(23): Show CCCGCCTGCCCCGCAGCGCCGCGCCCCGGCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0325 a0001c0001t0008g0325	1	338	0.0030	-30	c.-79 others(39): Show c.-794_-765delTGCCGGGGCGCGGCGCTGCGGGGCAGGCGG		USP7	ENSG00000187555.17	transcript	ENST00000344836.9	protein_coding					144		chr16	TogoVar
UTRN_chr6_144280335_144858034	144561236	TATATATA others(23): Show TATATATATATATATATATATATATACATAC	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0014 a0014	a0014c0047 a0014c0047	a0014c0047t0001 a0014c0047t0001	a0014c0047t0001g0011 a0014c0047t0001g0011	1	128	0.0078	-30	c.728 others(49): Show c.7289+3927_7289+3956delTATATATATATATATATATATATACA TACA		UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	50/74					INFO_REALIGN_3_PRIME	chr6	TogoVar
UVRAG_chr11_75810210_76149232	75828754	CATATATA others(23): Show CATATATATATATATATATATACACACATAT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01074.hp1 HG01106.hp2 others(3): Show HG00642.hp2 HG01074.hp1 HG01106.hp2 HG01256.hp2 HG02602.hp2 HG02735.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0038 a0002c0002t0001 a0002c0002t0002 others(1): Show a0001c0001t0038 a0002c0002t0001 a0002c0002t0002 a0002c0002t0027	a0001c0001t0038g0121 a0002c0002t0001g0086 a0002c0002t0002g0084 others(3): Show a0001c0001t0038g0121 a0002c0002t0001g0086 a0002c0002t0002g0084 a0002c0002t0002g0087 a0002c0002t0002g0098 a0002c0002t0027g0102	6	146	0.0411	-30	c.117 others(49): Show c.117+13252_117+13281delCACACATATATATATATATATATATA TATA		UVRAG	ENSG00000198382.9	transcript	ENST00000356136.8	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr11	TogoVar
UVRAG_chr11_75810210_76149232	75850054	GCAATCAG others(23): Show GCAATCAGTCTGATTGGTTGCAGAAAGCAGC	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01884.hp2 HG02109.hp2 others(22): Show HG01074.hp1 HG01884.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02886.hp1 HG02896.hp1 HG02976.hp2 HG03041.hp1 HG03209.hp1 HG03471.hp1 HG03540.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA19240.hp1 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0011 a0002c0002 others(2): Show a0001c0001 a0001c0011 a0002c0002 a0003c0005 a0007c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0018 a0001c0001t0028 a0001c0001t0038 a0001c0011t0016 a0002c0002t0006 a0002c0002t0007 a0002c0002t0014 a0002c0002t0034 a0002c0002t0035 a0002c0002t0036 a0003c0005t0007 a0007c0007t0037	a0001c0001t0001g0135 a0001c0001t0002g0136 a0001c0001t0003g0133 others(22): Show a0001c0001t0001g0135 a0001c0001t0002g0136 a0001c0001t0003g0133 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0008g0005 a0001c0001t0018g0139 a0001c0001t0028g0134 a0001c0001t0038g0121 a0001c0011t0016g0132 a0002c0002t0006g0116 a0002c0002t0006g0119 a0002c0002t0006g0124 a0002c0002t0006g0128 a0002c0002t0007g0120 a0002c0002t0007g0125 a0002c0002t0007g0129 a0002c0002t0014g0126 a0002c0002t0014g0138 a0002c0002t0034g0137 a0002c0002t0035g0118 a0002c0002t0036g0123 a0003c0005t0007g0117 a0007c0007t0037g0127	25	146	0.1712	-30	c.118 others(47): Show c.118-1821_118-1792delTCTGATTGGTTGCAGAAAGCAGCCAATC AG		UVRAG	ENSG00000198382.9	transcript	ENST00000356136.8	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr11	TogoVar
VAMP4_chr1_171695160_171747065	171703423	GTGTATAT others(23): Show GTGTATATATATATATATATATATATATATA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0058 a0001c0001t0057g0058	1	366	0.0027	-30	c.10 others(41): Show c.1053_*1082delTATATATATATATATATATATATATATACA		VAMP4	ENSG00000117533.15	transcript	ENST00000236192.12	protein_coding	8/8				1053		chr1	TogoVar
VAV1_chr19_6767708_6862361	6794007	ATAAATGA others(23): Show ATAAATGATTTATTTACCAATAAACCAACGG	A A	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	306	0.0033	-30	c.204 others(49): Show c.204+21080_204+21109delCCAACGGTAAATGATTTATTTACCAA TAAA		VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr19	TogoVar
VAV2_chr9_133756894_133997324	133856408	TCCCCATG others(23): Show TCCCCATGCTGGTATGTGCCCCCCACCGGGA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02451.hp2 HG02647.hp1 others(7): Show HG02280.hp1 HG02451.hp2 HG02647.hp1 HG02818.hp2 HG02922.hp2 HG02976.hp2 HG03098.hp2 HG03540.hp2 NA19043.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0009 a0001c0013 a0002c0011 a0001c0009 a0001c0013 a0002c0011	a0001c0009t0002 a0001c0009t0021 a0001c0009t0023 others(4): Show a0001c0009t0002 a0001c0009t0021 a0001c0009t0023 a0001c0013t0007 a0002c0011t0003 a0002c0011t0004 a0002c0011t0012	a0001c0009t0002g0027 a0001c0009t0002g0034 a0001c0009t0002g0169 others(7): Show a0001c0009t0002g0027 a0001c0009t0002g0034 a0001c0009t0002g0169 a0001c0009t0021g0104 a0001c0009t0023g0171 a0001c0013t0007g0088 a0001c0013t0007g0096 a0002c0011t0003g0135 a0002c0011t0004g0079 a0002c0011t0012g0003	10	200	0.0500	-30	c.380 others(47): Show c.380+4936_380+4965delTCCCGGTGGGGGGCACATACCAGCATGG GG		VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	3/29						chr9	TogoVar
VAV2_chr9_133756894_133997324	133964040	TATATATA others(23): Show TATATATATACATATATATACATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03579.hp1 HG03471.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0021 a0001c0002 a0001c0021	a0001c0002t0002 a0001c0021t0024 a0001c0002t0002 a0001c0021t0024	a0001c0002t0002g0166 a0001c0021t0024g0021 a0001c0002t0002g0166 a0001c0021t0024g0021	2	200	0.0100	-30	c.205 others(49): Show c.205-24851_205-24822delTTATATATATGTATATATATGTATAT ATAT		VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	1/29						chr9	TogoVar
VAV3_chr1_107566161_107970180	107574990	TGTGCGTG others(23): Show TGTGCGTGCGTGCGCGCGCGCGCGCGCACAC	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02895.hp1 HG02897.hp1 others(2): Show HG02717.hp1 HG02895.hp1 HG02897.hp1 HG02970.hp1 HG03130.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0019 a0001c0001 a0009c0019	a0001c0001t0007 a0001c0001t0019 a0009c0019t0005 a0001c0001t0007 a0001c0001t0019 a0009c0019t0005	a0001c0001t0007g0052 a0001c0001t0007g0096 a0001c0001t0007g0098 others(2): Show a0001c0001t0007g0052 a0001c0001t0007g0096 a0001c0001t0007g0098 a0001c0001t0019g0009 a0009c0019t0005g0203	5	210	0.0238	-30	c.235 others(47): Show c.2351-822_2351-793delGTGTGCGCGCGCGCGCGCGCACGCACGC AC		VAV3	ENSG00000134215.16	transcript	ENST00000370056.9	protein_coding	25/26						chr1	TogoVar
VAV3_chr1_107566161_107970180	107728594	CGTATACG others(23): Show CGTATACGTATATGTATATGTATATGTATAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0048 a0001c0001t0004g0048	1	210	0.0048	-30	c.150 others(51): Show c.1502+20344_1502+20373delATATACATATACATATACATATAC GTATAC		VAV3	ENSG00000134215.16	transcript	ENST00000370056.9	protein_coding	15/26						chr1	TogoVar
VAV3_chr1_107566161_107970180	107728600	CGTATATG others(23): Show CGTATATGTATATGTATATGTATATGTATAT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0013 a0008c0015t0013	a0008c0015t0013g0041 a0008c0015t0013g0041	1	210	0.0048	-30	c.150 others(51): Show c.1502+20338_1502+20367delATATACATATACATATACATATAC ATATAC		VAV3	ENSG00000134215.16	transcript	ENST00000370056.9	protein_coding	15/26						chr1	TogoVar
VAV3_chr1_107566161_107970180	107918676	ATTTTTAA others(23): Show ATTTTTAAGGCATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0005 a0002c0009t0005	a0002c0009t0005g0163 a0002c0009t0005g0163	1	210	0.0048	-30	c.205 others(49): Show c.205-43689_205-43660delATATATATATATATATATATGCCTTA AAAA		VAV3	ENSG00000134215.16	transcript	ENST00000370056.9	protein_coding	1/26						chr1	TogoVar
VCX3B_chrX_8459830_8471510	8465975	GGAACCAC others(23): Show GGAACCACTGAGTCAGGAGAGCGAGGTGGAA	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00558.hp2 HG00558.hp2	a0078 a0078	a0078c0072 a0078c0072	a0078c0072t0004 a0078c0072t0004	a0078c0072t0004g0002 a0078c0072t0004g0002	1	271	0.0037	-30	c.355 others(37): Show c.355_384delGAGGTGGAAGAACCACTGAGTCAGGAGAGC	p.Glu others(13): Show p.Glu119_Ser128del	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding	3/3	662/1175	355/741	119/246		INFO_REALIGN_3_PRIME	chrX	TogoVar
VCX3B_chrX_8459830_8471510	8466057	GAGGTGGA others(23): Show GAGGTGGAAGAACCACTGAGTCAGGAGAGCC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03239.hp2 HG03239.hp2	a0054 a0054	a0054c0066 a0054c0066	a0054c0066t0001 a0054c0066t0001	a0054c0066t0001g0027 a0054c0066t0001g0027	1	271	0.0037	-30	c.423 others(37): Show c.423_452delAGAACCACTGAGTCAGGAGAGCCAGGTGGA	p.Glu others(13): Show p.Glu142_Glu151del	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding	3/3	730/1175	423/741	141/246		INFO_REALIGN_3_PRIME	chrX	TogoVar
VCX3B_chrX_8459830_8471510	8466087	CAGGTGGA others(23): Show CAGGTGGAGGAACCACTGAGTCAGGAGAGCG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02071.hp1 NA20129.hp2 HG02071.hp1 NA20129.hp2	a0045 a0070 a0045 a0070	a0045c0044 a0070c0077 a0045c0044 a0070c0077	a0045c0044t0002 a0070c0077t0011 a0045c0044t0002 a0070c0077t0011	a0045c0044t0002g0006 a0070c0077t0011g0018 a0045c0044t0002g0006 a0070c0077t0011g0018	2	271	0.0074	-30	c.483 others(37): Show c.483_512delGGAACCACTGAGTCAGGAGAGCGAGGTGGA	p.Glu others(13): Show p.Glu162_Glu171del	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding	3/3	790/1175	483/741	161/246		INFO_REALIGN_3_PRIME	chrX	TogoVar
VCX3B_chrX_8459830_8471510	8466125	GGAACCAC others(23): Show GGAACCACTGAGTCAGGAGAGCGAGGTGGAA	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00621.hp1 HG00733.hp2 HG01106.hp1 others(55): Show HG00621.hp1 HG00733.hp2 HG01106.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG02055.hp1 HG02074.hp1 HG02145.hp1 HG02165.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02572.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG02976.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 NA18522.hp1 NA18943.hp1 NA18944.hp1 NA18946.hp1 NA18948.hp1 NA18955.hp1 NA18961.hp1 NA18971.hp1 NA18982.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA19000.hp1 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19058.hp1 NA19067.hp1 NA19068.hp1 NA19075.hp1 NA19080.hp1 NA19087.hp1 NA20129.hp1 NA21309.hp2	a0000 a0003 a0005 others(7): Show a0000 a0003 a0005 a0007 a0012 a0015 a0017 a0019 a0043 a0067	a0000c0083 a0003c0003 a0003c0014 others(12): Show a0000c0083 a0003c0003 a0003c0014 a0003c0061 a0005c0005 a0005c0010 a0005c0069 a0005c0089 a0007c0006 a0012c0012 a0015c0015 a0017c0017 a0019c0023 a0043c0048 a0067c0079	a0000c0083t0031 a0003c0003t0003 a0003c0014t0003 others(18): Show a0000c0083t0031 a0003c0003t0003 a0003c0014t0003 a0003c0061t0003 a0005c0005t0003 a0005c0005t0006 a0005c0005t0007 a0005c0005t0008 a0005c0010t0003 a0005c0010t0032 a0005c0069t0003 a0005c0089t0027 a0007c0006t0003 a0007c0006t0009 a0012c0012t0003 a0015c0015t0006 a0017c0017t0003 a0017c0017t0007 a0019c0023t0006 a0043c0048t0003 a0067c0079t0008	a0000c0083t0031g0037 a0003c0003t0003g0004 a0003c0003t0003g0011 others(26): Show a0000c0083t0031g0037 a0003c0003t0003g0004 a0003c0003t0003g0011 a0003c0003t0003g0029 a0003c0003t0003g0035 a0003c0014t0003g0005 a0003c0014t0003g0008 a0003c0061t0003g0004 a0005c0005t0003g0004 a0005c0005t0003g0053 a0005c0005t0003g0054 a0005c0005t0006g0005 a0005c0005t0007g0016 a0005c0005t0008g0028 a0005c0010t0003g0004 a0005c0010t0003g0041 a0005c0010t0032g0004 a0005c0069t0003g0038 a0005c0089t0027g0039 a0007c0006t0003g0005 a0007c0006t0009g0005 a0012c0012t0003g0010 a0015c0015t0006g0009 a0017c0017t0003g0005 a0017c0017t0003g0032 a0017c0017t0007g0008 a0019c0023t0006g0015 a0043c0048t0003g0010 a0067c0079t0008g0001	58	271	0.2140	-30	c.505 others(37): Show c.505_534delGAGGTGGAAGAACCACTGAGTCAGGAGAGC	p.Glu others(13): Show p.Glu169_Ser178del	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding	3/3	812/1175	505/741	169/246		INFO_REALIGN_3_PRIME	chrX	TogoVar
VCX3B_chrX_8459830_8471510	8466147	GAGGTGGA others(23): Show GAGGTGGAAGAACCACTGAGTCAGGAGAGCC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02132.hp1 HG02132.hp1	a0039 a0039	a0039c0054 a0039c0054	a0039c0054t0005 a0039c0054t0005	a0039c0054t0005g0005 a0039c0054t0005g0005	1	271	0.0037	-30	c.513 others(37): Show c.513_542delAGAACCACTGAGTCAGGAGAGCCAGGTGGA	p.Glu others(13): Show p.Glu172_Glu181del	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding	3/3	820/1175	513/741	171/246		INFO_REALIGN_3_PRIME	chrX	TogoVar
VCX3B_chrX_8459830_8471510	8466305	GGAACCAC others(23): Show GGAACCACTGAGTCAGGAGAGCGAGATGGAA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00733.hp2 HG00741.hp2 HG01106.hp1 others(17): Show HG00733.hp2 HG00741.hp2 HG01106.hp1 HG01175.hp2 HG01243.hp1 HG01256.hp1 HG01261.hp1 HG02257.hp2 HG02293.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG03139.hp1 HG03195.hp1 HG03239.hp2 HG03579.hp1 HG03710.hp1 NA18942.hp1 NA20129.hp2	a0010 a0011 a0012 others(6): Show a0010 a0011 a0012 a0035 a0043 a0054 a0055 a0067 a0070	a0010c0011 a0011c0019 a0011c0028 others(7): Show a0010c0011 a0011c0019 a0011c0028 a0012c0012 a0035c0040 a0043c0048 a0054c0066 a0055c0063 a0067c0079 a0070c0077	a0010c0011t0004 a0011c0019t0008 a0011c0028t0011 others(8): Show a0010c0011t0004 a0011c0019t0008 a0011c0028t0011 a0011c0028t0021 a0012c0012t0003 a0035c0040t0002 a0043c0048t0003 a0054c0066t0001 a0055c0063t0004 a0067c0079t0008 a0070c0077t0011	a0010c0011t0004g0002 a0011c0019t0008g0001 a0011c0028t0011g0051 others(8): Show a0010c0011t0004g0002 a0011c0019t0008g0001 a0011c0028t0011g0051 a0011c0028t0021g0002 a0012c0012t0003g0010 a0035c0040t0002g0006 a0043c0048t0003g0010 a0054c0066t0001g0027 a0055c0063t0004g0048 a0067c0079t0008g0001 a0070c0077t0011g0018	20	271	0.0738	-30	c.698 others(37): Show c.698_727delCACTGAGTCAGGAGAGCGAGATGGAAGAAC	p.Pro others(13): Show p.Pro233_Glu242del	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding	3/3	1005/1175	698/741	233/246		INFO_REALIGN_3_PRIME	chrX	TogoVar
VCX3B_chrX_8459830_8471510	8466865	GGAGGTGT others(23): Show GGAGGTGTGTGGGGAGGGAGGGAGGGAGGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG03453.hp1 NA18994.hp1 others(1): Show HG02145.hp1 HG03453.hp1 NA18994.hp1 NA19240.hp2	a0015 a0049 a0056 a0015 a0049 a0056	a0015c0015 a0049c0039 a0056c0065 a0015c0015 a0049c0039 a0056c0065	a0015c0015t0006 a0049c0039t0006 a0056c0065t0003 a0015c0015t0006 a0049c0039t0006 a0056c0065t0003	a0015c0015t0006g0009 a0049c0039t0006g0036 a0056c0065t0003g0004 a0015c0015t0006g0009 a0049c0039t0006g0036 a0056c0065t0003g0004	4	271	0.0148	-30	c.48 others(39): Show c.483_*512delGAGGTGTGTGGGGAGGGAGGGAGGGAGGAA		VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding					356		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8467175	TGGTGTGT others(23): Show TGGTGTGTGTGTGGGGAGGGAGGGAGGAAGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	271	0.0037	-30	c.79 others(39): Show c.793_*822delGGTGTGTGTGTGGGGAGGGAGGGAGGAAGA		VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding					666		chrX	TogoVar
VCX_chrX_7838171_7849143	7843750	GAGGTGGA others(23): Show GAGGTGGAAGAACCACTGAGTCAGGAGAGCC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00609.hp1 HG00609.hp1	a0091 a0091	a0091c0043 a0091c0043	a0091c0043t0003 a0091c0043t0003	a0091c0043t0003g0002 a0091c0043t0003g0002	1	341	0.0029	-30	c.363 others(37): Show c.363_392delAGAACCACTGAGTCAGGAGAGCCAGGTGGA	p.Glu others(13): Show p.Glu122_Glu131del	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding	2/2	396/781	363/621	121/206		INFO_REALIGN_3_PRIME	chrX	TogoVar
VCX_chrX_7838171_7849143	7843758	AGAACCAC others(23): Show AGAACCACTGAGTCAGGAGAGCCAGGTGGAG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18997.hp2 NA19088.hp1 NA18997.hp2 NA19088.hp1	a0029 a0029	a0029c0032 a0029c0032	a0029c0032t0002 a0029c0032t0002	a0029c0032t0002g0001 a0029c0032t0002g0001	2	341	0.0059	-30	c.385 others(37): Show c.385_414delCAGGTGGAGGAACCACTGAGTCAGGAGAGC	p.Gln others(13): Show p.Gln129_Ser138del	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding	2/2	418/781	385/621	129/206		INFO_REALIGN_3_PRIME	chrX	TogoVar
VCX_chrX_7838171_7849143	7843840	CAGGTGGA others(23): Show CAGGTGGAGGAACCACTGAGTCAGGAGAGCG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00408.hp2 HG02004.hp1 NA18964.hp2 others(4): Show HG00408.hp2 HG02004.hp1 NA18964.hp2 NA18972.hp2 NA18981.hp1 NA19078.hp2 NA19090.hp1	a0024 a0050 a0066 others(3): Show a0024 a0050 a0066 a0086 a0087 a0090	a0024c0050 a0024c0052 a0050c0048 others(4): Show a0024c0050 a0024c0052 a0050c0048 a0066c0074 a0086c0095 a0087c0094 a0090c0088	a0024c0050t0002 a0024c0052t0002 a0050c0048t0002 others(4): Show a0024c0050t0002 a0024c0052t0002 a0050c0048t0002 a0066c0074t0001 a0086c0095t0003 a0087c0094t0002 a0090c0088t0002	a0024c0050t0002g0001 a0024c0052t0002g0001 a0050c0048t0002g0001 others(4): Show a0024c0050t0002g0001 a0024c0052t0002g0001 a0050c0048t0002g0001 a0066c0074t0001g0001 a0086c0095t0003g0002 a0087c0094t0002g0001 a0090c0088t0002g0001	7	341	0.0205	-30	c.475 others(37): Show c.475_504delGAGGTGGAGGAACCACTGAGTCAGGAGAGC	p.Glu others(13): Show p.Glu159_Ser168del	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding	2/2	508/781	475/621	159/206		INFO_REALIGN_3_PRIME	chrX	TogoVar
VCX_chrX_7838171_7849143	7843903	GTGGAGGA others(23): Show GTGGAGGAACCACTGAGTCAGGAGAGCGAGA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19057.hp2 NA19081.hp1 NA19057.hp2 NA19081.hp1	a0030 a0030	a0030c0027 a0030c0027	a0030c0027t0005 a0030c0027t0005	a0030c0027t0005g0004 a0030c0027t0005g0010 a0030c0027t0005g0004 a0030c0027t0005g0010	2	341	0.0059	-30	c.513 others(37): Show c.513_542delGGAACCACTGAGTCAGGAGAGCGAGATGGA	p.Glu others(13): Show p.Glu172_Glu181del	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding	2/2	546/781	513/621	171/206		INFO_REALIGN_3_PRIME	chrX	TogoVar
VCX_chrX_7838171_7849143	7843908	GGAACCAC others(23): Show GGAACCACTGAGTCAGGAGAGCGAGATGGAA	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG03130.hp1 HG03209.hp1 HG03130.hp1 HG03209.hp1	a0044 a0074 a0044 a0074	a0044c0053 a0074c0069 a0044c0053 a0074c0069	a0044c0053t0002 a0074c0069t0007 a0044c0053t0002 a0074c0069t0007	a0044c0053t0002g0001 a0074c0069t0007g0007 a0044c0053t0002g0001 a0074c0069t0007g0007	2	341	0.0059	-30	c.535 others(37): Show c.535_564delGAGATGGAAGAACCACTGAGTCAGGAGAGC	p.Glu others(13): Show p.Glu179_Ser188del	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding	2/2	568/781	535/621	179/206		INFO_REALIGN_3_PRIME	chrX	TogoVar
VDR_chr12_47836537_47909994	47859893	CCTTCCTT others(23): Show CCTTCCTTCCTTCCTTCCTTCCTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01070.hp1 HG01975.hp1 others(5): Show HG00408.hp1 HG01070.hp1 HG01975.hp1 HG02055.hp2 HG02572.hp2 HG03486.hp2 HG03540.hp1 NA18988.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 a0001c0001 a0002c0002 a0002c0004	a0001c0001t0004 a0001c0001t0020 a0001c0001t0022 others(4): Show a0001c0001t0004 a0001c0001t0020 a0001c0001t0022 a0001c0001t0024 a0002c0002t0004 a0002c0002t0073 a0002c0004t0030	a0001c0001t0004g0125 a0001c0001t0004g0234 a0001c0001t0020g0042 others(5): Show a0001c0001t0004g0125 a0001c0001t0004g0234 a0001c0001t0020g0042 a0001c0001t0022g0071 a0001c0001t0024g0351 a0002c0002t0004g0164 a0002c0002t0073g0344 a0002c0004t0030g0328	8	358	0.0224	-30	c.278 others(47): Show c.278-2235_278-2206delAAGAAAGAAGGAAGGAAGGAAGGAAGGA AG		VDR	ENSG00000111424.12	transcript	ENST00000549336.6	protein_coding	4/9						chr12	TogoVar
VDR_chr12_47836537_47909994	47859894	CTTCCTTC others(23): Show CTTCCTTCCTTCCTTCCTTCCTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01516.hp1 HG01517.hp2 others(4): Show HG01169.hp1 HG01516.hp1 HG01517.hp2 HG02165.hp1 HG04228.hp1 NA18956.hp1 NA18975.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0005	a0001c0001t0004 a0001c0003t0017 a0001c0003t0040 others(4): Show a0001c0001t0004 a0001c0003t0017 a0001c0003t0040 a0002c0002t0001 a0002c0002t0004 a0002c0005t0015 a0002c0005t0071	a0001c0001t0004g0080 a0001c0003t0017g0258 a0001c0003t0040g0316 others(4): Show a0001c0001t0004g0080 a0001c0003t0017g0258 a0001c0003t0040g0316 a0002c0002t0001g0137 a0002c0002t0004g0153 a0002c0005t0015g0105 a0002c0005t0071g0104	7	358	0.0196	-30	c.278 others(47): Show c.278-2236_278-2207delAAAGAAAGAAGGAAGGAAGGAAGGAAGG AA		VDR	ENSG00000111424.12	transcript	ENST00000549336.6	protein_coding	4/9						chr12	TogoVar
VDR_chr12_47836537_47909994	47859898	CTTCCTTC others(23): Show CTTCCTTCCTTCCTTCCTTCTTTCTTTTTCT	C C	intron_variant intron_variant	MODIFIER	HG01978.hp1 NA19012.hp2 NA19056.hp1 HG01978.hp1 NA19012.hp2 NA19056.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0004 a0001c0001 a0001c0003 a0002c0004	a0001c0001t0003 a0001c0003t0017 a0002c0004t0002 a0001c0001t0003 a0001c0003t0017 a0002c0004t0002	a0001c0001t0003g0224 a0001c0003t0017g0008 a0002c0004t0002g0189 a0001c0001t0003g0224 a0001c0003t0017g0008 a0002c0004t0002g0189	3	358	0.0084	-30	c.278 others(47): Show c.278-2240_278-2211delAGAAAAAGAAAGAAGGAAGGAAGGAAGG AA		VDR	ENSG00000111424.12	transcript	ENST00000549336.6	protein_coding	4/9						chr12	TogoVar
VDR_chr12_47836537_47909994	47859902	CTTCCTTC others(23): Show CTTCCTTCCTTCCTTCTTTCTTTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0329 a0001c0001t0015g0329	1	358	0.0028	-30	c.278 others(47): Show c.278-2244_278-2215delAGAAAGAAAAAGAAAGAAGGAAGGAAGG AA		VDR	ENSG00000111424.12	transcript	ENST00000549336.6	protein_coding	4/9						chr12	TogoVar
VEGFC_chr4_176678538_176797922	176739940	AGAATATA others(23): Show AGAATATATATAACTATATATTCGATATATC	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG00735.hp2 others(46): Show HG00642.hp1 HG00642.hp2 HG00735.hp2 HG01255.hp1 HG01361.hp1 HG01433.hp2 HG01884.hp1 HG01891.hp1 HG01943.hp2 HG02004.hp2 HG02109.hp2 HG02148.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02622.hp2 HG02630.hp1 HG02818.hp1 HG02886.hp1 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03579.hp1 HG03654.hp1 HG03688.hp2 HG03710.hp2 HG03927.hp1 HG04115.hp2 NA18522.hp2 NA18906.hp2 NA18942.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19003.hp1 NA19010.hp1 NA19074.hp1 NA19084.hp1 NA19088.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0003c0003t0008	a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0029 others(46): Show a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0037 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0090 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0138 a0001c0001t0001g0145 a0001c0001t0001g0163 a0001c0001t0002g0182 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0193 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0003g0216 a0001c0001t0004g0007 a0001c0001t0004g0008 a0001c0001t0004g0009 a0001c0001t0004g0011 a0001c0001t0007g0012 a0001c0001t0007g0013 a0001c0001t0009g0006 a0001c0001t0010g0010 a0001c0001t0011g0180 a0003c0003t0008g0017	49	224	0.2188	-30	c.148 others(49): Show c.148-10224_148-10195delGATATATCGAATATATAGTTATATAT ATTC		VEGFC	ENSG00000150630.4	transcript	ENST00000618562.2	protein_coding	1/6						chr4	TogoVar
VGLL3_chr3_86932973_86996149	86995527	ATATATTA others(23): Show ATATATTATATATAATATATATAATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0185 a0001c0001t0050g0185	1	370	0.0027	-30	c.-48 others(41): Show c.-4814_-4785delATATATATTATATATATTATATATAATATA		VGLL3	ENSG00000206538.9	transcript	ENST00000398399.7	protein_coding					4379		chr3	TogoVar
VGLL4_chr3_11551069_11648915	11573283	GAAAGAAA others(23): Show GAAAGAAAGAAAGAAAGAAAGAAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02148.hp1 NA18955.hp1 others(1): Show HG00558.hp1 HG02148.hp1 NA18955.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0021 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0021 a0001c0002t0002	a0001c0001t0001g0057 a0001c0001t0002g0380 a0001c0001t0021g0040 others(1): Show a0001c0001t0001g0057 a0001c0001t0002g0380 a0001c0001t0021g0040 a0001c0002t0002g0230	4	388	0.0103	-30	c.273 others(47): Show c.273-8294_273-8265delTCCTTCCTTTCTTTCTTTCTTTCTTTCT TT		VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	2/4						chr3	TogoVar
VIL1_chr2_218414123_218458295	218415949	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTATATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0010 a0010	a0010c0007 a0010c0007	a0010c0007t0002 a0010c0007t0002	a0010c0007t0002g0190 a0010c0007t0002g0190	1	336	0.0030	-30	c.-32 others(41): Show c.-3230_-3201delTCTCTCTCTCTCTCTATATATATATATATA		VIL1	ENSG00000127831.11	transcript	ENST00000248444.10	protein_coding					3173		chr2	TogoVar
VKORC1L1_chr7_65868074_65964558	65895472	AAAAAAAA others(23): Show AAAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	350	0.0029	-30	c.194 others(49): Show c.194+21909_194+21938delAAAAAAAATATATATATATATATATA TATA		VKORC1L1	ENSG00000196715.7	transcript	ENST00000360768.5	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
VN1R4_chr19_53261676_53272723	53270701	GGGGAGAG others(23): Show GGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG00733.hp2 HG00735.hp1 others(10): Show HG00609.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01433.hp2 HG01517.hp1 HG01975.hp1 HG01981.hp1 HG02132.hp1 NA18943.hp2 NA18977.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0000 a0003c0003t0001g0000 a0002c0002t0001g0000 a0003c0003t0001g0000	13	456	0.0285	-30	c.-30 others(41): Show c.-3066_-3037delTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC		VN1R4	ENSG00000228567.3	transcript	ENST00000311170.5	protein_coding					2979		chr19	TogoVar
VPS13B_chr8_99008274_99882580	99540037	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01106.hp2 HG02451.hp1 others(1): Show HG00738.hp2 HG01106.hp2 HG02451.hp1 NA18992.hp2	a0001 a0020 a0001 a0020	a0001c0002 a0001c0008 a0020c0030 a0001c0002 a0001c0008 a0020c0030	a0001c0002t0001 a0001c0008t0005 a0020c0030t0001 a0001c0002t0001 a0001c0008t0005 a0020c0030t0001	a0001c0002t0001g0009 a0001c0002t0001g0030 a0001c0008t0005g0104 others(1): Show a0001c0002t0001g0009 a0001c0002t0001g0030 a0001c0008t0005g0104 a0020c0030t0001g0103	4	134	0.0299	-30	c.474 others(51): Show c.4746-16411_4746-16382delATATATATATATATATATATATAT ATTTTT		VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	30/61					INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99540039	ATATATAT others(23): Show ATATATATATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0007 a0001c0011t0002g0007	1	134	0.0075	-30	c.474 others(51): Show c.4746-16409_4746-16380delATATATATATATATATATATATAT TTTTTT		VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	30/61					INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99540041	ATATATAT others(23): Show ATATATATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0015 a0001c0002t0001g0015	1	134	0.0075	-30	c.474 others(51): Show c.4746-16407_4746-16378delATATATATATATATATATATATTT TTTTTT		VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	30/61					INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13D_chr1_12225030_12517047	12285965	TTCCTTTC others(23): Show TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG03516.hp2 HG01106.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0022 a0001c0002t0022 a0001c0001t0022 a0001c0002t0022	a0001c0001t0022g0069 a0001c0002t0022g0057 a0001c0001t0022g0069 a0001c0002t0022g0057	2	154	0.0130	-30	c.563 others(49): Show c.5634+2234_5635-2224delTTCCTTTCCTTTCCTTTCCTTTCCTC TCCT		VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	21/69					INFO_REALIGN_3_PRIME	chr1	TogoVar
VPS33B_chr15_90993673_91027594	91017367	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01433.hp1 HG00738.hp2 HG01433.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0289 a0002c0002t0002g0290 a0002c0002t0002g0289 a0002c0002t0002g0290	2	374	0.0054	-30	c.178 others(45): Show c.178-373_178-344delATATATATATATATATATATATATATATAT		VPS33B	ENSG00000184056.15	transcript	ENST00000333371.8	protein_coding	2/22						chr15	TogoVar
VPS35L_chr16_19550703_19706163	19570834	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02257.hp1 HG02622.hp1 others(1): Show HG01433.hp1 HG02257.hp1 HG02622.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 a0001c0001t0001 a0001c0002t0001 a0001c0002t0005	a0001c0001t0001g0074 a0001c0002t0001g0132 a0001c0002t0001g0134 others(1): Show a0001c0001t0001g0074 a0001c0002t0001g0132 a0001c0002t0001g0134 a0001c0002t0005g0135	4	284	0.0141	-30	c.285 others(47): Show c.285+1270_285+1299delATATATATATATATATATATATATATAT AT		VPS35L	ENSG00000103544.17	transcript	ENST00000417362.7	protein_coding	3/30					INFO_REALIGN_3_PRIME	chr16	TogoVar
VPS41_chr7_38717974_38914191	38720556	GTGTGTGT others(23): Show GTGTGTGTATATATATATATATATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0193 a0001c0002t0020g0193	1	278	0.0036	-30	c.56 others(41): Show c.5660_*5689delTATATATATATATATATATATATACACACA		VPS41	ENSG00000006715.16	transcript	ENST00000310301.9	protein_coding					2417		chr7	TogoVar
VSIR_chr10_71742556_71778520	71760110	CATATATG others(23): Show CATATATGTGTGTATATATATGTATATACAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 NA18943.hp2 NA19079.hp1 HG00280.hp2 NA18943.hp2 NA19079.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0004 a0001c0001t0048 a0003c0005t0004 a0001c0001t0004 a0001c0001t0048 a0003c0005t0004	a0001c0001t0004g0279 a0001c0001t0048g0278 a0003c0005t0004g0305 a0001c0001t0004g0279 a0001c0001t0048g0278 a0003c0005t0004g0305	3	462	0.0065	-30	c.568 others(45): Show c.568+728_568+757delATGTATATACATATATATACACACATATAT		VSIR	ENSG00000107738.20	transcript	ENST00000394957.8	protein_coding	3/6						chr10	TogoVar
VSIR_chr10_71742556_71778520	71760219	GTGTATAT others(23): Show GTGTATATATATGTATATACATATATATGTA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(76): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00423.hp1 HG00558.hp2 HG00733.hp1 HG00733.hp2 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01928.hp1 HG01934.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02055.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02622.hp2 HG02735.hp2 HG02738.hp2 HG02886.hp2 HG02897.hp1 HG02965.hp1 HG02976.hp2 HG03041.hp1 HG03209.hp1 HG03579.hp1 HG03669.hp1 HG03834.hp1 HG04115.hp1 HG04184.hp1 HG04228.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18941.hp1 NA18941.hp2 NA18951.hp1 NA18956.hp1 NA18966.hp1 NA18972.hp1 NA18974.hp2 NA18981.hp1 NA18986.hp1 NA18990.hp2 NA18995.hp1 NA18998.hp2 NA19030.hp2 NA19058.hp2 NA19059.hp2 NA19067.hp1 NA19082.hp1 NA19089.hp1 NA19091.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0006	a0001c0001 a0001c0003 a0001c0004 others(6): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0002c0006 a0004c0010 a0004c0011 a0005c0015 a0006c0014	a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 others(52): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0016 a0001c0001t0044 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0072 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0005 a0001c0003t0008 a0001c0003t0010 a0001c0003t0011 a0001c0003t0012 a0001c0003t0014 a0001c0003t0015 a0001c0003t0016 a0001c0003t0017 a0001c0003t0028 a0001c0003t0033 a0001c0003t0038 a0001c0003t0059 a0001c0003t0060 a0001c0003t0080 a0001c0003t0081 a0001c0003t0101 a0001c0003t0124 a0001c0004t0009 a0001c0004t0024 a0001c0004t0032 a0001c0004t0041 a0001c0004t0047 a0001c0004t0067 a0001c0004t0073 a0001c0004t0093 a0001c0004t0096 a0001c0004t0099 a0001c0004t0104 a0001c0004t0130 a0001c0004t0135 a0002c0002t0004 a0002c0002t0007 a0002c0002t0094 a0002c0006t0011 a0002c0006t0098 a0002c0006t0136 a0002c0006t0137 a0004c0010t0030 a0004c0011t0006 a0004c0011t0045 a0005c0015t0001 a0006c0014t0001	a0001c0001t0003g0282 a0001c0001t0006g0157 a0001c0001t0006g0164 others(66): Show a0001c0001t0003g0282 a0001c0001t0006g0157 a0001c0001t0006g0164 a0001c0001t0009g0044 a0001c0001t0016g0163 a0001c0001t0044g0162 a0001c0001t0068g0170 a0001c0001t0069g0336 a0001c0001t0070g0334 a0001c0001t0072g0158 a0001c0003t0001g0201 a0001c0003t0002g0046 a0001c0003t0002g0047 a0001c0003t0004g0193 a0001c0003t0005g0192 a0001c0003t0005g0197 a0001c0003t0008g0180 a0001c0003t0008g0189 a0001c0003t0008g0195 a0001c0003t0010g0187 a0001c0003t0010g0194 a0001c0003t0010g0199 a0001c0003t0010g0220 a0001c0003t0011g0182 a0001c0003t0012g0188 a0001c0003t0014g0200 a0001c0003t0015g0211 a0001c0003t0016g0198 a0001c0003t0017g0196 a0001c0003t0028g0181 a0001c0003t0033g0065 a0001c0003t0033g0329 a0001c0003t0038g0066 a0001c0003t0038g0067 a0001c0003t0059g0069 a0001c0003t0060g0068 a0001c0003t0080g0179 a0001c0003t0081g0178 a0001c0003t0101g0191 a0001c0003t0124g0177 a0001c0004t0009g0007 a0001c0004t0009g0313 a0001c0004t0024g0223 a0001c0004t0032g0166 a0001c0004t0041g0064 a0001c0004t0047g0316 a0001c0004t0067g0271 a0001c0004t0073g0315 a0001c0004t0093g0261 a0001c0004t0096g0318 a0001c0004t0099g0317 a0001c0004t0104g0256 a0001c0004t0130g0262 a0001c0004t0135g0314 a0002c0002t0004g0087 a0002c0002t0007g0081 a0002c0002t0094g0136 a0002c0006t0011g0071 a0002c0006t0098g0134 a0002c0006t0136g0338 a0002c0006t0137g0337 a0004c0010t0030g0228 a0004c0010t0030g0229 a0004c0010t0030g0330 a0004c0011t0006g0248 a0004c0011t0045g0247 a0004c0011t0045g0274 a0005c0015t0001g0190 a0006c0014t0001g0186	79	462	0.1710	-30	c.568 others(45): Show c.568+619_568+648delTACATATATATGTATATACATATATATACA		VSIR	ENSG00000107738.20	transcript	ENST00000394957.8	protein_coding	3/6						chr10	TogoVar
VWA1_chr1_1430690_1447882	1443673	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02572.hp1 HG02809.hp2 others(1): Show HG01884.hp2 HG02572.hp1 HG02809.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0002 a0001c0001t0004 a0001c0002t0002	a0001c0001t0004g0020 a0001c0001t0004g0039 a0001c0002t0002g0002 others(1): Show a0001c0001t0004g0020 a0001c0001t0004g0039 a0001c0002t0002g0002 a0001c0002t0002g0017	4	280	0.0143	-30	c.38 others(41): Show c.3887_*3916delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		VWA1	ENSG00000179403.12	transcript	ENST00000476993.2	protein_coding					792		chr1	TogoVar

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