Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
VMAC_chr19_5899872_5915853	5910675	AAACAACA others(5): Show AAACAACAACAAC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02572.hp2 HG02922.hp2 HG03516.hp1 HG02572.hp2 HG02922.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0019 a0001c0001t0023 a0001c0006t0019 a0001c0001t0019 a0001c0001t0023 a0001c0006t0019	a0001c0001t0019g0086 a0001c0001t0023g0004 a0001c0006t0019g0088 a0001c0001t0019g0086 a0001c0001t0023g0004 a0001c0006t0019g0088	3	62	0.0484	-12	c.15 others(23): Show c.1560_*1571delCAACAACAACAA	VMAC	ENSG00000187650.4	transcript	ENST00000339485.4	protein_coding	2/2	1560	INFO_REALIGN_3_PRIME	chr19	TogoVar
VMO1_chr17_4780285_4791364	4781135	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	174	0.0057	-12	c.42 others(23): Show c.4215_*4226delTTTTTTTTTTTT	VMO1	ENSG00000182853.12	transcript	ENST00000328739.6	protein_coding		4149		chr17	TogoVar
VMO1_chr17_4780285_4791364	4785234	AAATAAAT others(5): Show AAATAAATAAATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(152): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00423.hp2 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp2 HG01255.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01981.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02155.hp2 HG02165.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02965.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp2 NA18747.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18955.hp2 NA18957.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18973.hp1 NA18976.hp1 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18983.hp2 NA18984.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp2 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19054.hp1 NA19058.hp2 NA19063.hp2 NA19064.hp1 NA19077.hp1 NA19078.hp2 NA19081.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0007 others(4): Show a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0007 a0002c0002t0001g0010 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0002g0006	155	442	0.3507	-12	c.11 others(21): Show c.116_*127delAATTTATTTATT	VMO1	ENSG00000182853.12	transcript	ENST00000328739.6	protein_coding		50		chr17	TogoVar
VMP1_chr17_59702654_59847255	59755095	CTTCTTTT others(5): Show CTTCTTTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	284	0.0035	-12	c.415 others(29): Show c.415-9861_415-9850delCTTTTTCTTTTT	VMP1	ENSG00000062716.13	transcript	ENST00000262291.9	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
VMP1_chr17_59702654_59847255	59757238	GAGATAGA others(5): Show GAGATAGATAGAT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02615.hp1 HG02615.hp2 others(2): Show HG00639.hp1 HG02615.hp1 HG02615.hp2 NA18906.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0211 a0001c0001t0003g0131 a0001c0001t0003g0155 others(2): Show a0001c0001t0001g0211 a0001c0001t0003g0131 a0001c0001t0003g0155 a0001c0001t0004g0272 a0001c0001t0004g0273	5	75	0.0667	-12	c.415 others(29): Show c.415-7688_415-7677delAGATAGATAGAT	VMP1	ENSG00000062716.13	transcript	ENST00000262291.9	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
VMP1_chr17_59702654_59847255	59769525	GTCTTTGA others(5): Show GTCTTTGAATAAA	G G	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	284	0.0035	-12	c.583 others(29): Show c.583-4219_583-4208delAAATCTTTGAAT	VMP1	ENSG00000062716.13	transcript	ENST00000262291.9	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
VMP1_chr17_59702654_59847255	59801110	ATATGTGT others(5): Show ATATGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02258.hp2 HG02451.hp2 others(4): Show HG01243.hp1 HG02258.hp2 HG02451.hp2 HG02630.hp1 HG03098.hp1 HG03209.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0077 a0001c0001t0001g0078 others(4): Show a0001c0001t0001g0003 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0276 a0001c0001t0001g0278	7	278	0.0252	-12	c.715 others(29): Show c.715-7684_715-7673delATGTGTGTGTGT	VMP1	ENSG00000062716.13	transcript	ENST00000262291.9	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
VMP1_chr17_59702654_59847255	59809484	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03453.hp2 HG02559.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0165 a0001c0001t0001g0088 a0001c0001t0001g0165	2	28	0.0714	-12	c.795 others(27): Show c.795+637_795+648delTTTTTTTTTTTT	VMP1	ENSG00000062716.13	transcript	ENST00000262291.9	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
VMP1_chr17_59702654_59847255	59815855	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00544.hp1 others(75): Show HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00621.hp1 HG00639.hp2 HG00673.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01123.hp1 HG01168.hp1 HG01258.hp1 HG01358.hp1 HG01975.hp1 HG01981.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02083.hp2 HG02129.hp1 HG02135.hp1 HG02155.hp2 HG02602.hp2 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG03491.hp2 HG03492.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp2 HG03704.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04199.hp1 NA18522.hp1 NA18942.hp1 NA18949.hp1 NA18950.hp1 NA18952.hp2 NA18956.hp1 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18967.hp1 NA18968.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18982.hp1 NA18983.hp2 NA18987.hp2 NA18989.hp2 NA18991.hp1 NA18992.hp1 NA18993.hp2 NA19000.hp1 NA19005.hp1 NA19007.hp1 NA19057.hp2 NA19060.hp1 NA19062.hp1 NA19077.hp1 NA19081.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp2 NA20300.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0002c0003t0002	a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 others(75): Show a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0196 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0005g0002 a0001c0001t0005g0018 a0001c0001t0005g0058 a0001c0001t0005g0059 a0001c0001t0005g0061 a0001c0001t0007g0274 a0001c0001t0007g0275 a0001c0001t0011g0021 a0002c0003t0002g0030	78	129	0.6047	-12	c.913 others(29): Show c.913-1847_913-1836delAAAAAAAAAAAA	VMP1	ENSG00000062716.13	transcript	ENST00000262291.9	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
VN1R4_chr19_53261676_53272723	53268125	GACACACA others(5): Show GACACACACACAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG02109.hp1 HG02280.hp2 others(5): Show HG01069.hp1 HG02109.hp1 HG02280.hp2 HG02818.hp1 HG02922.hp2 HG02970.hp2 HG03540.hp2 NA18997.hp2	a0002 a0006 a0007 a0002 a0006 a0007	a0002c0002 a0006c0007 a0007c0008 a0002c0002 a0006c0007 a0007c0008	a0002c0002t0001 a0006c0007t0001 a0007c0008t0001 a0002c0002t0001 a0006c0007t0001 a0007c0008t0001	a0002c0002t0001g0000 a0006c0007t0001g0000 a0007c0008t0001g0000 a0002c0002t0001g0000 a0006c0007t0001g0000 a0007c0008t0001g0000	8	50	0.1600	-12	c.-47 others(21): Show c.-472_-461delGTGTGTGTGTGT	VN1R4	ENSG00000228567.3	transcript	ENST00000311170.5	protein_coding		403		chr19	TogoVar
VN1R4_chr19_53261676_53272723	53270701	GGGGAGAG others(5): Show GGGGAGAGGGAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00735.hp2 HG01243.hp1 others(23): Show HG00099.hp2 HG00735.hp2 HG01243.hp1 HG01358.hp2 HG01943.hp1 HG02027.hp1 HG02280.hp1 HG02451.hp2 HG02615.hp1 HG02717.hp1 HG02723.hp2 HG02895.hp1 HG02897.hp1 HG03225.hp1 HG03490.hp2 HG03492.hp1 HG04228.hp2 NA18522.hp1 NA18968.hp2 NA18993.hp2 NA18999.hp1 NA19002.hp1 NA19007.hp1 NA19058.hp1 NA19060.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0004c0004t0001	a0001c0001t0001g0000 a0002c0002t0001g0000 a0003c0003t0001g0000 others(1): Show a0001c0001t0001g0000 a0002c0002t0001g0000 a0003c0003t0001g0000 a0004c0004t0001g0000	26	99	0.2626	-12	c.-30 others(23): Show c.-3048_-3037delTCTCCCTCTCCC	VN1R4	ENSG00000228567.3	transcript	ENST00000311170.5	protein_coding		2979		chr19	TogoVar
VNN1_chr6_132675849_132719055	132677575	AAAAAAAA others(5): Show AAAAAAAAAGAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 NA18906.hp1 NA18961.hp2 others(1): Show HG02055.hp2 NA18906.hp1 NA18961.hp2 NA19000.hp2	a0001 a0005 a0008 a0001 a0005 a0008	a0001c0001 a0005c0008 a0008c0007 a0001c0001 a0005c0008 a0008c0007	a0001c0001t0003 a0005c0008t0010 a0008c0007t0008 a0001c0001t0003 a0005c0008t0010 a0008c0007t0008	a0001c0001t0003g0015 a0001c0001t0003g0025 a0005c0008t0010g0207 others(1): Show a0001c0001t0003g0015 a0001c0001t0003g0025 a0005c0008t0010g0207 a0008c0007t0008g0120	4	416	0.0096	-12	c.55 others(23): Show c.5553_*5564delCTTCTTTTTTTT	VNN1	ENSG00000112299.8	transcript	ENST00000367928.5	protein_coding		3273		chr6	TogoVar
VOPP1_chr7_55465613_55577502	55505647	AAGGAAGG others(5): Show AAGGAAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0008	1	314	0.0032	-12	c.114 others(29): Show c.114-7969_114-7958delCCCTCCCTTCCT	VOPP1	ENSG00000154978.13	transcript	ENST00000285279.10	protein_coding	2/4			chr7	TogoVar
VOPP1_chr7_55465613_55577502	55505651	AAGGGAGG others(5): Show AAGGGAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01070.hp2 HG01071.hp2 others(23): Show HG00733.hp1 HG01070.hp2 HG01071.hp2 HG01109.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01884.hp1 HG02055.hp2 HG02572.hp1 HG02630.hp1 HG02809.hp2 HG02965.hp1 HG03130.hp1 HG03195.hp1 HG03225.hp2 HG03579.hp1 HG03688.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04199.hp1 HG06807.hp2 NA18960.hp2 NA19062.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0004	a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0128 others(23): Show a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0155 a0001c0001t0001g0267 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0256 a0001c0001t0002g0290 a0001c0001t0002g0292 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0028 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0037 a0001c0001t0003g0054 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0293 a0001c0001t0003g0295 a0001c0002t0001g0291 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0004g0135	26	44	0.5909	-12	c.114 others(29): Show c.114-7973_114-7962delCCCTCCCTCCCT	VOPP1	ENSG00000154978.13	transcript	ENST00000285279.10	protein_coding	2/4			chr7	TogoVar
VOPP1_chr7_55465613_55577502	55516928	ATATATTT others(5): Show ATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03540.hp2 HG02451.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0122 a0001c0001t0002g0110 a0001c0001t0002g0122	2	284	0.0070	-12	c.113 others(29): Show c.113+4132_113+4143delAAAAAAAATATA	VOPP1	ENSG00000154978.13	transcript	ENST00000285279.10	protein_coding	2/4			chr7	TogoVar
VOPP1_chr7_55465613_55577502	55540398	AAAATAAA others(5): Show AAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(143): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01981.hp1 HG01981.hp2 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02155.hp2 HG02165.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp1 HG02723.hp1 HG02735.hp1 HG02809.hp2 HG02818.hp2 HG02897.hp2 HG02965.hp1 HG03017.hp1 HG03098.hp2 HG03195.hp2 HG03239.hp1 HG03490.hp1 HG03492.hp2 HG03540.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp2 NA18951.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18959.hp1 NA18960.hp1 NA18965.hp1 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18984.hp2 NA18985.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp2 NA19001.hp2 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp2 NA19011.hp2 NA19054.hp1 NA19063.hp2 NA19067.hp2 NA19068.hp1 NA19077.hp2 NA19078.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp2 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp2 NA20129.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0003c0005 others(1): Show a0001c0001 a0001c0002 a0003c0005 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0002t0001 a0001c0002t0004 a0001c0002t0008 a0001c0002t0010 a0001c0002t0011 a0001c0002t0012 a0001c0002t0014 a0003c0005t0004 a0004c0004t0004	a0001c0001t0001g0162 a0001c0001t0001g0260 a0001c0001t0002g0001 others(142): Show a0001c0001t0001g0162 a0001c0001t0001g0260 a0001c0001t0002g0001 a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0122 a0001c0001t0002g0180 a0001c0001t0002g0183 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0214 a0001c0001t0002g0226 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0245 a0001c0001t0002g0256 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0290 a0001c0001t0002g0292 a0001c0001t0002g0294 a0001c0001t0003g0293 a0001c0001t0003g0295 a0001c0001t0006g0078 a0001c0001t0006g0118 a0001c0001t0006g0121 a0001c0001t0009g0105 a0001c0002t0001g0016 a0001c0002t0001g0125 a0001c0002t0001g0165 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0197 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0202 a0001c0002t0001g0222 a0001c0002t0001g0227 a0001c0002t0001g0229 a0001c0002t0001g0233 a0001c0002t0001g0246 a0001c0002t0001g0248 a0001c0002t0001g0251 a0001c0002t0001g0262 a0001c0002t0001g0271 a0001c0002t0004g0081 a0001c0002t0004g0101 a0001c0002t0004g0107 a0001c0002t0004g0178 a0001c0002t0004g0179 a0001c0002t0004g0196 a0001c0002t0004g0205 a0001c0002t0004g0206 a0001c0002t0004g0207 a0001c0002t0004g0209 a0001c0002t0004g0210 a0001c0002t0004g0211 a0001c0002t0004g0212 a0001c0002t0004g0213 a0001c0002t0004g0215 a0001c0002t0004g0216 a0001c0002t0004g0218 a0001c0002t0004g0219 a0001c0002t0004g0221 a0001c0002t0004g0223 a0001c0002t0004g0224 a0001c0002t0004g0225 a0001c0002t0004g0228 a0001c0002t0004g0230 a0001c0002t0004g0231 a0001c0002t0004g0232 a0001c0002t0004g0234 a0001c0002t0004g0235 a0001c0002t0004g0239 a0001c0002t0004g0240 a0001c0002t0004g0241 a0001c0002t0004g0242 a0001c0002t0004g0244 a0001c0002t0004g0249 a0001c0002t0004g0253 a0001c0002t0004g0254 a0001c0002t0004g0255 a0001c0002t0004g0257 a0001c0002t0004g0258 a0001c0002t0004g0259 a0001c0002t0004g0261 a0001c0002t0008g0315 a0001c0002t0010g0220 a0001c0002t0011g0186 a0001c0002t0012g0198 a0001c0002t0014g0217 a0003c0005t0004g0250 a0004c0004t0004g0004	146	228	0.6404	-12	c.55- others(29): Show c.55-19280_55-19269delATTTATTTATTT	VOPP1	ENSG00000154978.13	transcript	ENST00000285279.10	protein_coding	1/4			chr7	TogoVar
VOPP1_chr7_55465613_55577502	55553756	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp1 others(54): Show HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00558.hp2 HG00609.hp2 HG00642.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01071.hp1 HG01169.hp1 HG01175.hp2 HG01261.hp2 HG01361.hp1 HG01515.hp2 HG01517.hp2 HG01981.hp2 HG02300.hp1 HG02451.hp1 HG02602.hp2 HG02622.hp1 HG02647.hp1 HG02723.hp1 HG02897.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03490.hp1 HG03492.hp2 HG03540.hp2 HG03654.hp2 HG03942.hp2 HG04199.hp2 HG06807.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18939.hp2 NA18942.hp2 NA18959.hp1 NA18965.hp1 NA18969.hp1 NA18969.hp2 NA18975.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp2 NA19054.hp2 NA19062.hp1 NA19067.hp1 NA19080.hp2 NA19084.hp1 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0002t0001 a0001c0002t0004	a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 others(53): Show a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0208 a0001c0001t0002g0001 a0001c0001t0002g0010 a0001c0001t0002g0015 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0122 a0001c0001t0002g0183 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0266 a0001c0001t0003g0028 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0050 a0001c0001t0006g0078 a0001c0001t0006g0118 a0001c0002t0001g0190 a0001c0002t0001g0251 a0001c0002t0004g0101 a0001c0002t0004g0235 a0001c0002t0004g0261	57	61	0.9344	-12	c.54+ others(29): Show c.54+18503_54+18514delGTGTGTGTGTGT	VOPP1	ENSG00000154978.13	transcript	ENST00000285279.10	protein_coding	1/4			chr7	TogoVar
VPS13A_chr9_77172534_77426537	77207213	TTATATAT others(5): Show TTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02040.hp2 NA18939.hp1 others(10): Show HG02004.hp1 HG02040.hp2 NA18939.hp1 NA18948.hp1 NA18952.hp2 NA18957.hp2 NA18990.hp2 NA19009.hp2 NA19011.hp2 NA19077.hp2 NA19081.hp1 NA19083.hp2 NA19084.hp2	a0002 a0019 a0021 others(1): Show a0002 a0019 a0021 a0022	a0002c0004 a0019c0049 a0021c0048 others(1): Show a0002c0004 a0019c0049 a0021c0048 a0022c0050	a0002c0004t0003 a0002c0004t0051 a0019c0049t0003 others(2): Show a0002c0004t0003 a0002c0004t0051 a0019c0049t0003 a0021c0048t0003 a0022c0050t0003	a0002c0004t0003g0150 a0002c0004t0003g0151 a0002c0004t0003g0152 others(10): Show a0002c0004t0003g0150 a0002c0004t0003g0151 a0002c0004t0003g0152 a0002c0004t0003g0153 a0002c0004t0003g0155 a0002c0004t0003g0157 a0002c0004t0003g0158 a0002c0004t0003g0159 a0002c0004t0003g0160 a0002c0004t0051g0149 a0019c0049t0003g0154 a0021c0048t0003g0161 a0022c0050t0003g0156	13	156	0.0833	-12	c.385 others(29): Show c.385+1163_385+1174delTATATATATATA	VPS13A	ENSG00000197969.14	transcript	ENST00000360280.8	protein_coding	5/71		INFO_REALIGN_3_PRIME	chr9	TogoVar
VPS13A_chr9_77172534_77426537	77399169	AAAAAAAA others(5): Show AAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00609.hp1 HG00673.hp1 others(15): Show HG00140.hp1 HG00609.hp1 HG00673.hp1 HG01123.hp2 HG01192.hp1 HG03490.hp2 NA18940.hp1 NA18961.hp1 NA18963.hp2 NA18967.hp2 NA18982.hp2 NA18984.hp2 NA18993.hp1 NA19001.hp2 NA19074.hp1 NA19083.hp1 NA19084.hp1 NA19088.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0001c0011 a0005c0012 a0001c0002 a0001c0011 a0005c0012	a0001c0002t0001 a0001c0002t0048 a0001c0011t0001 others(1): Show a0001c0002t0001 a0001c0002t0048 a0001c0011t0001 a0005c0012t0019	a0001c0002t0001g0252 a0001c0002t0001g0269 a0001c0002t0001g0283 others(15): Show a0001c0002t0001g0252 a0001c0002t0001g0269 a0001c0002t0001g0283 a0001c0002t0001g0291 a0001c0002t0001g0292 a0001c0002t0001g0295 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0301 a0001c0002t0001g0310 a0001c0002t0001g0313 a0001c0002t0001g0314 a0001c0002t0001g0315 a0001c0002t0001g0322 a0001c0002t0001g0331 a0001c0002t0048g0302 a0001c0011t0001g0278 a0005c0012t0019g0273	18	346	0.0520	-12	c.919 others(31): Show c.9190-4055_9190-4044delTAAAAAAAAAAA	VPS13A	ENSG00000197969.14	transcript	ENST00000360280.8	protein_coding	68/71		INFO_REALIGN_3_PRIME	chr9	TogoVar
VPS13A_chr9_77172534_77426537	77401329	TTGTGTGT others(5): Show TTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0284 a0001c0002t0001g0284	1	57	0.0175	-12	c.919 others(31): Show c.9190-1873_9190-1862delGTGTGTGTGTGT	VPS13A	ENSG00000197969.14	transcript	ENST00000360280.8	protein_coding	68/71		INFO_REALIGN_3_PRIME	chr9	TogoVar
VPS13A_chr9_77172534_77426537	77420890	CATTCAAG others(5): Show CATTCAAGTAAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0008 a0001c0001t0046g0008	1	346	0.0029	-12	c.48 others(23): Show c.4887_*4898delTCAAGTAAAAAT	VPS13A	ENSG00000197969.14	transcript	ENST00000360280.8	protein_coding	72/72	4887	INFO_REALIGN_3_PRIME	chr9	TogoVar
VPS13B_chr8_99008274_99882580	99044853	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02273.hp1 NA19063.hp2 HG01433.hp1 HG02273.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0081 a0001c0001t0002g0043 a0001c0001t0002g0115 a0001c0001t0001g0081 a0001c0001t0002g0043 a0001c0001t0002g0115	3	14	0.2143	-12	c.291 others(29): Show c.291+6322_291+6333delACACACACACAC	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	3/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99128386	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03130.hp2 HG02895.hp1 HG03130.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0130 a0003c0005t0004g0132 a0003c0005t0004g0130 a0003c0005t0004g0132	2	3	0.6667	-12	c.120 others(31): Show c.1207-6216_1207-6205delAAAAAAAAAAAA	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	8/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99140657	CCCTCCTC others(5): Show CCCTCCTCCCCGT	C C	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	132	0.0076	-12	c.165 others(31): Show c.1652-2313_1652-2302delCCTCCCCGTCCT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	12/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99271195	AACTACTA others(5): Show AACTACTACTACT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01099.hp1 HG01496.hp1 others(4): Show HG01081.hp1 HG01099.hp1 HG01496.hp1 HG01515.hp2 HG01978.hp1 NA18906.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0009 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0009 a0002c0003t0003 a0002c0003t0007	a0001c0001t0001g0107 a0001c0001t0002g0018 a0001c0002t0009g0015 others(4): Show a0001c0001t0001g0107 a0001c0001t0002g0018 a0001c0002t0009g0015 a0002c0003t0003g0057 a0002c0003t0003g0100 a0002c0003t0003g0101 a0002c0003t0007g0017	7	65	0.1077	-12	c.251 others(31): Show c.2516-2961_2516-2950delTACTACTACTAC	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	17/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99287220	ATCTATCT others(5): Show ATCTATCTGTCTG	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01081.hp2 HG02300.hp2 others(6): Show HG00609.hp1 HG01081.hp2 HG02300.hp2 HG02965.hp1 HG03579.hp2 NA18612.hp1 NA18984.hp1 NA18992.hp1 NA19003.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0018	a0001c0001t0002 a0001c0002t0001 a0002c0003t0003 others(2): Show a0001c0001t0002 a0001c0002t0001 a0002c0003t0003 a0002c0003t0008 a0002c0018t0003	a0001c0001t0002g0044 a0001c0001t0002g0050 a0001c0001t0002g0051 others(6): Show a0001c0001t0002g0044 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0103 a0001c0002t0001g0096 a0002c0003t0003g0099 a0002c0003t0008g0067 a0002c0003t0008g0071 a0002c0018t0003g0095	9	132	0.0682	-12	c.282 others(33): Show c.2824+11974_2824+11985delGTCTGTCTATCT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	19/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99287228	GTCTGTCT others(5): Show GTCTGTCTATCTA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01433.hp2 HG01496.hp2 others(2): Show HG00735.hp1 HG01433.hp2 HG01496.hp2 HG02273.hp2 HG02300.hp1	a0001 a0008 a0001 a0008	a0001c0002 a0008c0012 a0001c0002 a0008c0012	a0001c0002t0001 a0008c0012t0002 a0001c0002t0001 a0008c0012t0002	a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0004 others(2): Show a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0005 a0008c0012t0002g0022	5	93	0.0538	-12	c.282 others(33): Show c.2824+11978_2824+11989delGTCTATCTATCT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	19/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99287232	GTCTATCT others(5): Show GTCTATCTATCTA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01099.hp1 HG01109.hp2 others(7): Show HG00642.hp2 HG01099.hp1 HG01109.hp2 HG01515.hp2 HG02451.hp1 HG03579.hp1 NA18522.hp1 NA18952.hp1 NA18991.hp1 NA18992.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0020	a0001c0002 a0001c0008 a0001c0021 others(3): Show a0001c0002 a0001c0008 a0001c0021 a0002c0003 a0005c0009 a0020c0030	a0001c0002t0001 a0001c0002t0002 a0001c0002t0009 others(6): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0009 a0001c0008t0005 a0001c0021t0001 a0002c0003t0003 a0002c0003t0007 a0005c0009t0006 a0020c0030t0001	a0001c0002t0001g0025 a0001c0002t0001g0031 a0001c0002t0002g0011 others(7): Show a0001c0002t0001g0025 a0001c0002t0001g0031 a0001c0002t0002g0011 a0001c0002t0009g0015 a0001c0008t0005g0125 a0001c0021t0001g0121 a0002c0003t0003g0036 a0002c0003t0007g0017 a0005c0009t0006g0119 a0020c0030t0001g0105	10	71	0.1408	-12	c.282 others(33): Show c.2824+12022_2824+12033delATCTATCTATCT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	19/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99354266	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01243.hp1 HG03834.hp2 others(2): Show HG01106.hp1 HG01243.hp1 HG03834.hp2 NA18906.hp2 NA19064.hp1	a0001 a0003 a0010 others(1): Show a0001 a0003 a0010 a0021	a0001c0001 a0003c0006 a0010c0025 others(1): Show a0001c0001 a0003c0006 a0010c0025 a0021c0026	a0001c0001t0001 a0003c0006t0004 a0010c0025t0010 others(1): Show a0001c0001t0001 a0003c0006t0004 a0010c0025t0010 a0021c0026t0003	a0001c0001t0001g0107 a0003c0006t0004g0109 a0003c0006t0004g0128 others(2): Show a0001c0001t0001g0107 a0003c0006t0004g0109 a0003c0006t0004g0128 a0010c0025t0010g0108 a0021c0026t0003g0126	5	28	0.1786	-12	c.282 others(33): Show c.2825-29914_2825-29903delTTTTTTTTTTTT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	19/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99360120	ATCTTTCT others(5): Show ATCTTTCTTTCTT	A A	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01515.hp2 HG01884.hp2 others(2): Show HG01433.hp1 HG01515.hp2 HG01884.hp2 HG03130.hp1 NA18992.hp2	a0001 a0002 a0011 others(1): Show a0001 a0002 a0011 a0020	a0001c0001 a0002c0003 a0011c0034 others(1): Show a0001c0001 a0002c0003 a0011c0034 a0020c0030	a0001c0001t0001 a0002c0003t0007 a0011c0034t0001 others(1): Show a0001c0001t0001 a0002c0003t0007 a0011c0034t0001 a0020c0030t0001	a0001c0001t0001g0081 a0001c0001t0001g0116 a0002c0003t0007g0017 others(2): Show a0001c0001t0001g0081 a0001c0001t0001g0116 a0002c0003t0007g0017 a0011c0034t0001g0063 a0020c0030t0001g0105	5	98	0.0510	-12	c.282 others(33): Show c.2825-24028_2825-24017delTTCTTTCTTTCT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	19/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99360236	CTCTCTCC others(5): Show CTCTCTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0010 a0010	a0010c0025 a0010c0025	a0010c0025t0010 a0010c0025t0010	a0010c0025t0010g0108 a0010c0025t0010g0108	1	131	0.0076	-12	c.282 others(33): Show c.2825-23969_2825-23958delTCTCCTTCCTTC	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	19/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99360240	CTCCTTCC others(5): Show CTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA20129.hp1 HG03041.hp2 NA20129.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0065 a0003c0004t0001g0066 a0003c0004t0001g0065 a0003c0004t0001g0066	2	104	0.0192	-12	c.282 others(33): Show c.2825-23937_2825-23926delCTTCCTTCCTTC	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	19/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99418455	TTTTCTTT others(5): Show TTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01081.hp1 HG02040.hp1 others(6): Show HG00642.hp2 HG01081.hp1 HG02040.hp1 HG02523.hp2 HG02922.hp1 NA18952.hp2 NA18984.hp1 NA18991.hp1 NA19003.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0005	a0001c0001t0002 a0001c0002t0002 a0002c0003t0003 others(1): Show a0001c0001t0002 a0001c0002t0002 a0002c0003t0003 a0003c0005t0006	a0001c0001t0002g0018 a0001c0001t0002g0021 a0001c0001t0002g0033 others(6): Show a0001c0001t0002g0018 a0001c0001t0002g0021 a0001c0001t0002g0033 a0001c0001t0002g0050 a0001c0001t0002g0072 a0001c0001t0002g0093 a0001c0002t0002g0011 a0002c0003t0003g0036 a0003c0005t0006g0129	9	57	0.1579	-12	c.308 others(33): Show c.3083-13033_3083-13022delTTTCTTTCTTTC	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	21/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99448121	TTTTATTT others(5): Show TTTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0010 a0010	a0010c0025 a0010c0025	a0010c0025t0010 a0010c0025t0010	a0010c0025t0010g0108 a0010c0025t0010g0108	1	49	0.0204	-12	c.344 others(31): Show c.3445+5517_3445+5528delTATTTATTTATT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	23/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99540053	ATATATAT others(5): Show ATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0016 a0016	a0016c0024 a0016c0024	a0016c0024t0005 a0016c0024t0005	a0016c0024t0005g0123 a0016c0024t0005g0123	1	128	0.0078	-12	c.474 others(33): Show c.4746-16395_4746-16384delATATATATATTT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	30/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99540055	ATATATAT others(5): Show ATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0087 a0001c0002t0001g0087	1	129	0.0078	-12	c.474 others(33): Show c.4746-16393_4746-16382delATATATATTTTT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	30/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99580984	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA18984.hp2 HG03453.hp1 NA18984.hp2	a0001 a0019 a0001 a0019	a0001c0001 a0019c0017 a0001c0001 a0019c0017	a0001c0001t0001 a0019c0017t0001 a0001c0001t0001 a0019c0017t0001	a0001c0001t0001g0064 a0019c0017t0001g0012 a0001c0001t0001g0064 a0019c0017t0001g0012	2	19	0.1053	-12	c.522 others(31): Show c.5220+3387_5220+3398delCACACACACACA	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	33/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99639985	GTAATAAT others(5): Show GTAATAATAATAA	G G	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02273.hp1 HG01978.hp1 HG02273.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0003 a0001c0001t0002 a0002c0003t0003	a0001c0001t0002g0115 a0002c0003t0003g0101 a0001c0001t0002g0115 a0002c0003t0003g0101	2	73	0.0274	-12	c.522 others(31): Show c.5221-1795_5221-1784delTAATAATAATAA	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	33/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99640046	GAAGAGAA others(5): Show GAAGAGAAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0077 a0001c0002t0001g0077	1	122	0.0082	-12	c.522 others(31): Show c.5221-1760_5221-1749delGAAAAGAAAAGA	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	33/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99763135	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01981.hp2 HG03834.hp2 others(1): Show HG01106.hp1 HG01981.hp2 HG03834.hp2 NA19064.hp1	a0003 a0021 a0003 a0021	a0003c0006 a0021c0026 a0003c0006 a0021c0026	a0003c0006t0004 a0021c0026t0003 a0003c0006t0004 a0021c0026t0003	a0003c0006t0004g0109 a0003c0006t0004g0127 a0003c0006t0004g0128 others(1): Show a0003c0006t0004g0109 a0003c0006t0004g0127 a0003c0006t0004g0128 a0021c0026t0003g0126	4	66	0.0606	-12	c.705 others(31): Show c.7051-3620_7051-3609delAAAAAAAAAAAA	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	39/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99793254	CATATATA others(5): Show CATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0039 a0001c0002t0001g0039	1	52	0.0192	-12	c.794 others(31): Show c.7941+8798_7941+8809delTATATATATATA	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	43/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99821103	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01106.hp1 HG02145.hp1 others(1): Show HG00609.hp2 HG01106.hp1 HG02145.hp1 HG03453.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0003c0005 others(1): Show a0001c0001 a0003c0004 a0003c0005 a0003c0006	a0001c0001t0002 a0003c0004t0001 a0003c0005t0006 others(1): Show a0001c0001t0002 a0003c0004t0001 a0003c0005t0006 a0003c0006t0004	a0001c0001t0002g0026 a0003c0004t0001g0090 a0003c0005t0006g0131 others(1): Show a0001c0001t0002g0026 a0003c0004t0001g0090 a0003c0005t0006g0131 a0003c0006t0004g0109	4	18	0.2222	-12	c.899 others(29): Show c.8995-138_8995-127delACACACACACAC	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	49/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99828392	CCGTTTTT others(5): Show CCGTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02145.hp1 HG02970.hp2 HG01981.hp2 HG02145.hp1 HG02970.hp2	a0003 a0005 a0003 a0005	a0003c0005 a0003c0006 a0005c0009 a0003c0005 a0003c0006 a0005c0009	a0003c0005t0006 a0003c0006t0004 a0005c0009t0004 a0003c0005t0006 a0003c0006t0004 a0005c0009t0004	a0003c0005t0006g0131 a0003c0006t0004g0127 a0005c0009t0004g0120 a0003c0005t0006g0131 a0003c0006t0004g0127 a0005c0009t0004g0120	3	49	0.0612	-12	c.933 others(31): Show c.9331-3976_9331-3965delCGTTTTTTTTTT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	51/61			chr8	TogoVar
VPS13C_chr15_61847389_62065447	61858317	ACTATCTA others(5): Show ACTATCTATCTAT	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02630.hp1 NA19082.hp2 others(1): Show HG01123.hp1 HG02630.hp1 NA19082.hp2 NA19088.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0021 a0001c0001 a0002c0002 a0004c0021	a0001c0001t0002 a0002c0002t0001 a0004c0021t0001 a0001c0001t0002 a0002c0002t0001 a0004c0021t0001	a0001c0001t0002g0277 a0002c0002t0001g0060 a0004c0021t0001g0173 others(1): Show a0001c0001t0002g0277 a0002c0002t0001g0060 a0004c0021t0001g0173 a0004c0021t0001g0174	4	108	0.0370	-12	c.109 others(33): Show c.10953-1920_10953-1909delATAGATAGATAG	VPS13C	ENSG00000129003.19	transcript	ENST00000644861.2	protein_coding	82/84			chr15	TogoVar
VPS13C_chr15_61847389_62065447	61858352	ATCTATCT others(5): Show ATCTATCTATCTG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01496.hp1 HG01928.hp2 others(19): Show HG01081.hp2 HG01496.hp1 HG01928.hp2 HG01934.hp2 HG01978.hp2 HG01981.hp1 HG02027.hp2 HG02148.hp2 HG02165.hp1 HG02273.hp1 HG02300.hp1 HG02572.hp2 HG02602.hp1 NA18939.hp1 NA18966.hp2 NA18969.hp2 NA18970.hp1 NA18982.hp2 NA19000.hp1 NA19007.hp1 NA19011.hp1 NA19062.hp1	a0001 a0003 a0009 others(1): Show a0001 a0003 a0009 a0023	a0001c0001 a0003c0003 a0003c0013 others(2): Show a0001c0001 a0003c0003 a0003c0013 a0009c0010 a0023c0026	a0001c0001t0002 a0003c0003t0001 a0003c0013t0001 others(2): Show a0001c0001t0002 a0003c0003t0001 a0003c0013t0001 a0009c0010t0001 a0023c0026t0027	a0001c0001t0002g0266 a0003c0003t0001g0001 a0003c0003t0001g0128 others(17): Show a0001c0001t0002g0266 a0003c0003t0001g0001 a0003c0003t0001g0128 a0003c0003t0001g0130 a0003c0003t0001g0131 a0003c0003t0001g0132 a0003c0003t0001g0151 a0003c0003t0001g0159 a0003c0003t0001g0160 a0003c0003t0001g0162 a0003c0003t0001g0164 a0003c0003t0001g0165 a0003c0013t0001g0113 a0003c0013t0001g0115 a0003c0013t0001g0150 a0009c0010t0001g0158 a0009c0010t0001g0161 a0009c0010t0001g0163 a0009c0010t0001g0166 a0023c0026t0027g0008	22	350	0.0629	-12	c.109 others(33): Show c.10953-1955_10953-1944delCAGATAGATAGA	VPS13C	ENSG00000129003.19	transcript	ENST00000644861.2	protein_coding	82/84			chr15	TogoVar
VPS13C_chr15_61847389_62065447	61914878	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01346.hp2 HG01884.hp2 others(3): Show HG00408.hp1 HG01346.hp2 HG01884.hp2 HG02258.hp1 NA19054.hp1 NA19090.hp2	a0001 a0004 a0013 a0001 a0004 a0013	a0001c0001 a0004c0004 a0013c0016 a0001c0001 a0004c0004 a0013c0016	a0001c0001t0003 a0004c0004t0001 a0013c0016t0010 a0001c0001t0003 a0004c0004t0001 a0013c0016t0010	a0001c0001t0003g0348 a0004c0004t0001g0191 a0004c0004t0001g0192 others(3): Show a0001c0001t0003g0348 a0004c0004t0001g0191 a0004c0004t0001g0192 a0004c0004t0001g0193 a0013c0016t0010g0009 a0013c0016t0010g0011	6	122	0.0492	-12	c.844 others(29): Show c.8445+743_8445+754delTTTTTTTTTTTT	VPS13C	ENSG00000129003.19	transcript	ENST00000644861.2	protein_coding	61/84			chr15	TogoVar
VPS13C_chr15_61847389_62065447	61961394	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01175.hp2 HG02004.hp2 others(14): Show HG01070.hp1 HG01175.hp2 HG02004.hp2 HG02258.hp1 HG02630.hp2 HG02895.hp1 HG03041.hp1 HG03831.hp2 HG04199.hp1 NA18747.hp1 NA18968.hp2 NA18973.hp1 NA18995.hp2 NA19057.hp2 NA19079.hp1 NA20129.hp2 NA21309.hp1	a0002 a0005 a0013 a0002 a0005 a0013	a0002c0002 a0005c0005 a0013c0016 a0002c0002 a0005c0005 a0013c0016	a0002c0002t0001 a0005c0005t0004 a0013c0016t0010 a0002c0002t0001 a0005c0005t0004 a0013c0016t0010	a0002c0002t0001g0093 a0002c0002t0001g0094 a0005c0005t0004g0015 others(14): Show a0002c0002t0001g0093 a0002c0002t0001g0094 a0005c0005t0004g0015 a0005c0005t0004g0017 a0005c0005t0004g0018 a0005c0005t0004g0019 a0005c0005t0004g0020 a0005c0005t0004g0021 a0005c0005t0004g0022 a0005c0005t0004g0023 a0005c0005t0004g0200 a0005c0005t0004g0201 a0005c0005t0004g0202 a0005c0005t0004g0203 a0005c0005t0004g0205 a0005c0005t0004g0206 a0013c0016t0010g0009	17	114	0.1491	-12	c.390 others(29): Show c.3908+183_3908+194delGTGTGTGTGTGT	VPS13C	ENSG00000129003.19	transcript	ENST00000644861.2	protein_coding	35/84			chr15	TogoVar
VPS13C_chr15_61847389_62065447	61980183	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02809.hp1 HG03540.hp2 others(3): Show HG01261.hp2 HG02809.hp1 HG03540.hp2 NA18954.hp1 NA19030.hp2 NA21309.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0004c0030 a0006c0037 a0001c0001 a0004c0030 a0006c0037	a0001c0001t0002 a0001c0001t0009 a0001c0001t0019 others(2): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0019 a0004c0030t0001 a0006c0037t0017	a0001c0001t0002g0241 a0001c0001t0002g0340 a0001c0001t0009g0026 others(3): Show a0001c0001t0002g0241 a0001c0001t0002g0340 a0001c0001t0009g0026 a0001c0001t0019g0025 a0004c0030t0001g0045 a0006c0037t0017g0216	6	118	0.0508	-12	c.216 others(31): Show c.2166+1147_2166+1158delTTTTTTTTTTTT	VPS13C	ENSG00000129003.19	transcript	ENST00000644861.2	protein_coding	22/84			chr15	TogoVar
VPS13D_chr1_12225030_12517047	12272392	GGTGTGTG others(5): Show GGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0063 a0001c0003t0016g0063	1	48	0.0208	-12	c.210 others(29): Show c.2104-584_2104-573delGTGTGTGTGTGT	VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	17/69		INFO_REALIGN_3_PRIME	chr1	TogoVar
VPS13D_chr1_12225030_12517047	12285266	GTATTTAT others(5): Show GTATTTATTTATT	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0047 a0001c0002t0004g0047	1	149	0.0067	-12	c.563 others(31): Show c.5634+1552_5634+1563delATTTATTTATTT	VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	21/69		INFO_REALIGN_3_PRIME	chr1	TogoVar

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