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
VPS13B_chr8_99008274_99882580	99474183	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0003 a0003	a0003c0033 a0003c0033	a0003c0033t0006 a0003c0033t0006	a0003c0033t0006g0134 a0003c0033t0006g0134	1	59	0.0169	14	c.366 others(33): Show c.3666+6556_3666+6569dupTTTTTTTTTTTTTT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	24/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99571249	G G	GACTGTTA others(7): Show GACTGTTATATGGTA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01243.hp2 HG02922.hp2 others(3): Show HG00408.hp1 HG01243.hp2 HG02922.hp2 HG02970.hp1 HG03579.hp2 NA19064.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0008 a0001c0001t0001 a0001c0002t0001 a0002c0003t0008	a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0114 others(3): Show a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0114 a0001c0002t0001g0068 a0001c0002t0001g0077 a0002c0003t0008g0067	6	132	0.0455	14	c.495 others(33): Show c.4950-4407_4950-4394dupCTGTTATATGGTAA	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	31/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99623994	C C	CATACATA others(7): Show CATACATACATATAT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0010 a0001c0002t0001g0010	1	48	0.0208	14	c.522 others(35): Show c.5221-17814_5221-17813insCATACATATATATA	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	33/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99623994	C C	CATACATA others(7): Show CATACATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01109.hp2 NA18992.hp2 others(1): Show HG01106.hp2 HG01109.hp2 NA18992.hp2 NA19078.hp1	a0001 a0020 a0001 a0020	a0001c0002 a0020c0030 a0001c0002 a0020c0030	a0001c0002t0001 a0020c0030t0001 a0001c0002t0001 a0020c0030t0001	a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0038 others(1): Show a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0038 a0020c0030t0001g0105	4	51	0.0784	14	c.522 others(35): Show c.5221-17814_5221-17813insCATATATATATATA	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	33/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99623994	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02145.hp1 HG01981.hp2 HG02145.hp1	a0003 a0003	a0003c0005 a0003c0006 a0003c0005 a0003c0006	a0003c0005t0006 a0003c0006t0004 a0003c0005t0006 a0003c0006t0004	a0003c0005t0006g0131 a0003c0006t0004g0127 a0003c0005t0006g0131 a0003c0006t0004g0127	2	49	0.0408	14	c.522 others(35): Show c.5221-17816_5221-17803dupATATATATATATAT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	33/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99633806	G G	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp1 HG00735.hp1 others(15): Show HG00408.hp2 HG00597.hp1 HG00735.hp1 HG01261.hp1 HG02040.hp1 HG02273.hp2 HG02451.hp1 HG02523.hp1 NA18612.hp2 NA18950.hp1 NA18952.hp1 NA18984.hp2 NA18992.hp2 NA19003.hp2 NA19058.hp2 NA19063.hp1 NA19066.hp2 NA19078.hp1	a0001 a0002 a0008 others(2): Show a0001 a0002 a0008 a0019 a0020	a0001c0001 a0001c0002 a0001c0008 others(5): Show a0001c0001 a0001c0002 a0001c0008 a0001c0035 a0002c0003 a0008c0012 a0019c0017 a0020c0030	a0001c0001t0002 a0001c0002t0001 a0001c0008t0005 others(5): Show a0001c0001t0002 a0001c0002t0001 a0001c0008t0005 a0001c0035t0002 a0002c0003t0003 a0008c0012t0002 a0019c0017t0001 a0020c0030t0001	a0001c0001t0002g0021 a0001c0001t0002g0032 a0001c0001t0002g0033 others(15): Show a0001c0001t0002g0021 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0041 a0001c0002t0001g0003 a0001c0002t0001g0009 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0023 a0001c0002t0001g0025 a0001c0002t0001g0029 a0001c0002t0001g0038 a0001c0008t0005g0125 a0001c0035t0002g0104 a0002c0003t0003g0024 a0008c0012t0002g0022 a0019c0017t0001g0012 a0020c0030t0001g0105	18	19	0.9474	14	c.522 others(33): Show c.5221-7985_5221-7972dupTGTGTGTGTGTGTG	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	33/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99640049	G G	GAAGAAGA others(7): Show GAAGAAGAAGAGAAA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0014 a0014	a0014c0019 a0014c0019	a0014c0019t0002 a0014c0019t0002	a0014c0019t0002g0055 a0014c0019t0002g0055	1	70	0.0143	14	c.522 others(33): Show c.5221-1761_5221-1760insAGAAGAAGAGAAAA	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	33/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99657470	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG00609.hp1 others(31): Show HG00140.hp2 HG00423.hp2 HG00609.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01256.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01981.hp1 HG02040.hp2 HG02080.hp2 HG02132.hp2 HG02165.hp2 HG02273.hp1 HG02451.hp2 HG02523.hp2 HG03130.hp1 HG03834.hp1 NA18612.hp1 NA18950.hp2 NA18952.hp2 NA18991.hp2 NA18992.hp1 NA19003.hp1 NA19004.hp2 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19078.hp2 NA20129.hp2	a0001 a0002 a0007 others(3): Show a0001 a0002 a0007 a0013 a0014 a0018	a0001c0001 a0001c0002 a0002c0003 others(5): Show a0001c0001 a0001c0002 a0002c0003 a0002c0018 a0007c0014 a0013c0029 a0014c0019 a0018c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0001c0002t0001 a0001c0002t0009 a0002c0003t0003 a0002c0003t0007 a0002c0018t0003 a0007c0014t0002 a0013c0029t0003 a0014c0019t0002 a0018c0013t0001	a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0113 others(31): Show a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0002g0018 a0001c0001t0002g0043 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0075 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0103 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0004g0091 a0001c0001t0004g0118 a0001c0001t0011g0092 a0001c0002t0001g0085 a0001c0002t0001g0096 a0001c0002t0009g0015 a0002c0003t0003g0057 a0002c0003t0003g0080 a0002c0003t0003g0086 a0002c0003t0003g0099 a0002c0003t0003g0100 a0002c0003t0007g0017 a0002c0018t0003g0095 a0007c0014t0002g0097 a0013c0029t0003g0088 a0014c0019t0002g0055 a0018c0013t0001g0102	34	76	0.4474	14	c.590 others(33): Show c.5909-3872_5909-3859dupGTGTGTGTGTGTGT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	34/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99763135	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0011 a0011	a0011c0034 a0011c0034	a0011c0034t0001 a0011c0034t0001	a0011c0034t0001g0063 a0011c0034t0001g0063	1	63	0.0159	14	c.705 others(33): Show c.7051-3622_7051-3609dupAAAAAAAAAAAAAA	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	39/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99831076	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02970.hp2 HG02895.hp2 HG02897.hp1 HG02970.hp2	a0003 a0005 a0015 a0003 a0005 a0015	a0003c0033 a0005c0009 a0015c0032 a0003c0033 a0005c0009 a0015c0032	a0003c0033t0006 a0005c0009t0004 a0015c0032t0006 a0003c0033t0006 a0005c0009t0004 a0015c0032t0006	a0003c0033t0006g0134 a0005c0009t0004g0120 a0015c0032t0006g0133 a0003c0033t0006g0134 a0005c0009t0004g0120 a0015c0032t0006g0133	3	63	0.0476	14	c.933 others(33): Show c.9331-1292_9331-1279dupTTTTTTTTTTTTTT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	51/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13C_chr15_61847389_62065447	61873959	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp1 HG02486.hp2 HG01884.hp2 HG02258.hp1 HG02486.hp2	a0013 a0013	a0013c0016 a0013c0016	a0013c0016t0010 a0013c0016t0010	a0013c0016t0010g0009 a0013c0016t0010g0010 a0013c0016t0010g0011 a0013c0016t0010g0009 a0013c0016t0010g0010 a0013c0016t0010g0011	3	226	0.0133	14	c.104 others(33): Show c.10415-564_10415-551dupGTGTGTGTGTGTGT	VPS13C	ENSG00000129003.19	transcript	ENST00000644861.2	protein_coding	77/84			chr15	TogoVar
VPS13C_chr15_61847389_62065447	61914878	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18982.hp1 NA18747.hp2 NA18982.hp1	a0032 a0038 a0032 a0038	a0032c0051 a0038c0038 a0032c0051 a0038c0038	a0032c0051t0001 a0038c0038t0005 a0032c0051t0001 a0038c0038t0005	a0032c0051t0001g0186 a0038c0038t0005g0207 a0032c0051t0001g0186 a0038c0038t0005g0207	2	118	0.0169	14	c.844 others(31): Show c.8445+741_8445+754dupTTTTTTTTTTTTTT	VPS13C	ENSG00000129003.19	transcript	ENST00000644861.2	protein_coding	61/84			chr15	TogoVar
VPS13C_chr15_61847389_62065447	61923861	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02723.hp1 HG02976.hp2 others(4): Show HG01175.hp2 HG02723.hp1 HG02976.hp2 HG03831.hp2 HG04199.hp1 NA19057.hp2 NA21309.hp1	a0005 a0012 a0005 a0012	a0005c0005 a0012c0011 a0005c0005 a0012c0011	a0005c0005t0004 a0012c0011t0014 a0005c0005t0004 a0012c0011t0014	a0005c0005t0004g0015 a0005c0005t0004g0020 a0005c0005t0004g0021 others(4): Show a0005c0005t0004g0015 a0005c0005t0004g0020 a0005c0005t0004g0021 a0005c0005t0004g0022 a0005c0005t0004g0201 a0012c0011t0014g0188 a0012c0011t0014g0189	7	106	0.0660	14	c.661 others(33): Show c.6610-1113_6610-1100dupAAAAAAAAAAAAAA	VPS13C	ENSG00000129003.19	transcript	ENST00000644861.2	protein_coding	53/84			chr15	TogoVar
VPS13C_chr15_61847389_62065447	61996990	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00609.hp1 HG01346.hp2 others(4): Show HG00408.hp1 HG00609.hp1 HG01346.hp2 NA18960.hp2 NA19083.hp1 NA19090.hp2 NA19091.hp2	a0004 a0034 a0004 a0034	a0004c0004 a0034c0044 a0004c0004 a0034c0044	a0004c0004t0001 a0034c0044t0001 a0004c0004t0001 a0034c0044t0001	a0004c0004t0001g0030 a0004c0004t0001g0033 a0004c0004t0001g0043 others(4): Show a0004c0004t0001g0030 a0004c0004t0001g0033 a0004c0004t0001g0043 a0004c0004t0001g0191 a0004c0004t0001g0192 a0004c0004t0001g0193 a0034c0044t0001g0171	7	324	0.0216	14	c.135 others(33): Show c.1353+3573_1353+3574insATATATATATATAT	VPS13C	ENSG00000129003.19	transcript	ENST00000644861.2	protein_coding	16/84			chr15	TogoVar
VPS13C_chr15_61847389_62065447	61996998	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0038 a0038	a0038c0038 a0038c0038	a0038c0038t0005 a0038c0038t0005	a0038c0038t0005g0207 a0038c0038t0005g0207	1	265	0.0038	14	c.135 others(33): Show c.1353+3552_1353+3565dupATATATATATATAT	VPS13C	ENSG00000129003.19	transcript	ENST00000644861.2	protein_coding	16/84			chr15	TogoVar
VPS13C_chr15_61847389_62065447	62012221	G G	GACACACA others(7): Show GACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0004 a0004	a0004c0030 a0004c0030	a0004c0030t0001 a0004c0030t0001	a0004c0030t0001g0045 a0004c0030t0001g0045	1	127	0.0079	14	c.826 others(27): Show c.826-71_826-58dupGTGTGTGTGTGTGT	VPS13C	ENSG00000129003.19	transcript	ENST00000644861.2	protein_coding	11/84			chr15	TogoVar
VPS13D_chr1_12225030_12517047	12312948	C C	CAGTGTAA others(7): Show CAGTGTAAATGTATG	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	152	0.0066	14	c.693 others(33): Show c.6935+1025_6935+1038dupGTGTAAATGTATGA	VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	29/69		INFO_REALIGN_3_PRIME	chr1	TogoVar
VPS13D_chr1_12225030_12517047	12395996	G G	GATATATA others(7): Show GATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA18947.hp2 HG02622.hp2 NA18947.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0007 a0002c0004t0025 a0001c0002t0007 a0002c0004t0025	a0001c0002t0007g0066 a0002c0004t0025g0118 a0001c0002t0007g0066 a0002c0004t0025g0118	2	107	0.0187	14	c.116 others(35): Show c.11635-4165_11635-4152dupTATATATATATATA	VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	60/69		INFO_REALIGN_3_PRIME	chr1	TogoVar
VPS13D_chr1_12225030_12517047	12396029	A A	ATATATAT others(7): Show ATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02809.hp1 HG04115.hp2 HG02486.hp2 HG02809.hp1 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0002 a0001c0002t0001 a0001c0005t0002	a0001c0002t0001g0089 a0001c0005t0002g0062 a0001c0005t0002g0068 a0001c0002t0001g0089 a0001c0005t0002g0062 a0001c0005t0002g0068	3	76	0.0395	14	c.116 others(35): Show c.11635-4152_11635-4151insTATATATATATATT	VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	60/69			chr1	TogoVar
VPS13D_chr1_12225030_12517047	12396029	A A	ATATATAT others(7): Show ATATATATATGTATT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0002 a0001c0008t0003g0002	1	74	0.0135	14	c.116 others(35): Show c.11635-4152_11635-4151insTATATATATGTATT	VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	60/69			chr1	TogoVar
VPS13D_chr1_12225030_12517047	12433949	A A	AGAGAGAG others(7): Show AGAGAGAGAGAGAGT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0014 a0014	a0014c0020 a0014c0020	a0014c0020t0023 a0014c0020t0023	a0014c0020t0023g0077 a0014c0020t0023g0077	1	146	0.0068	14	c.123 others(37): Show c.12333+17123_12333+17124insAGAGAGAGAGAGTG	VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	65/69		INFO_REALIGN_3_PRIME	chr1	TogoVar
VPS16_chr20_2835745_2871732	2854238	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG00558.hp1 others(25): Show HG00323.hp1 HG00438.hp1 HG00558.hp1 HG01081.hp1 HG01081.hp2 HG01123.hp1 HG01361.hp1 HG01943.hp1 HG02055.hp1 HG02080.hp1 HG02165.hp1 HG02280.hp2 HG02683.hp1 HG02738.hp1 NA18747.hp1 NA18943.hp1 NA18961.hp2 NA18984.hp1 NA18986.hp2 NA18988.hp2 NA18991.hp2 NA19003.hp2 NA19011.hp1 NA19066.hp1 NA19074.hp2 NA19079.hp1 NA19085.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0005 a0001c0001 a0001c0004 a0002c0005	a0001c0001t0001 a0001c0001t0003 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0004t0001 a0002c0005t0004	a0001c0001t0001g0135 a0001c0001t0001g0148 a0001c0001t0001g0164 others(19): Show a0001c0001t0001g0135 a0001c0001t0001g0148 a0001c0001t0001g0164 a0001c0001t0001g0217 a0001c0001t0001g0228 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0003g0006 a0001c0001t0003g0024 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0158 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0004t0001g0194 a0002c0005t0004g0174	28	157	0.1783	14	c.54- others(29): Show c.54-5467_54-5454dupCACACACACACACA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VPS18_chr15_40889450_40908975	40905237	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00673.hp2 HG01496.hp1 others(33): Show HG00438.hp2 HG00673.hp2 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02056.hp2 HG02257.hp1 HG02293.hp2 HG02451.hp2 HG02523.hp2 HG02622.hp1 HG03486.hp1 HG03579.hp1 HG04115.hp2 NA18612.hp1 NA18941.hp1 NA18945.hp1 NA18947.hp1 NA18950.hp2 NA18952.hp2 NA18957.hp1 NA18961.hp2 NA18971.hp2 NA18984.hp1 NA18994.hp1 NA18999.hp2 NA19004.hp2 NA19012.hp1 NA19055.hp2 NA19062.hp2 NA19077.hp1 NA19088.hp2 NA19091.hp2 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0009 others(1): Show a0001c0001 a0001c0003 a0001c0009 a0001c0017	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0003t0001 a0001c0003t0002 a0001c0009t0004 a0001c0017t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0004g0011 a0001c0003t0001g0016 a0001c0003t0002g0022 a0001c0009t0004g0011 a0001c0017t0001g0056	36	289	0.1246	14	c.18 others(25): Show c.1896_*1897insTTTTTTTTTTTTTT	VPS18	ENSG00000104142.11	transcript	ENST00000220509.10	protein_coding		1263		chr15	TogoVar
VPS25_chr17_42768449_42784599	42769936	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0008 a0001c0002t0002g0008	1	246	0.0041	14	c.-35 others(25): Show c.-3540_-3539insTTTTTTTTTTTTTT	VPS25	ENSG00000131475.7	transcript	ENST00000253794.7	protein_coding		3512		chr17	TogoVar
VPS26A_chr10_69119178_69179412	69137862	G G	GATATATA others(7): Show GATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0036 a0001c0002t0008g0036	1	313	0.0032	14	c.153 others(31): Show c.153+4822_153+4835dupATATATATATATAT	VPS26A	ENSG00000122958.15	transcript	ENST00000263559.11	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
VPS26A_chr10_69119178_69179412	69151264	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18945.hp2 NA18950.hp2 others(4): Show NA18612.hp1 NA18945.hp2 NA18950.hp2 NA18954.hp2 NA19082.hp1 NA19082.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0022 a0001c0001t0024 a0001c0001t0002 a0001c0001t0022 a0001c0001t0024	a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0171 others(4): Show a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0171 a0001c0001t0002g0178 a0001c0001t0002g0182 a0001c0001t0022g0086 a0001c0001t0024g0172	7	264	0.0265	14	c.154 others(31): Show c.154-4542_154-4529dupAAAAAAAAAAAAAA	VPS26A	ENSG00000122958.15	transcript	ENST00000263559.11	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
VPS26A_chr10_69119178_69179412	69151284	C C	CAAAACAA others(7): Show CAAAACAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0041 a0001c0001t0021g0041	1	181	0.0055	14	c.154 others(31): Show c.154-4527_154-4526insAAACAAAAAAAAAA	VPS26A	ENSG00000122958.15	transcript	ENST00000263559.11	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
VPS26B_chr11_134219671_134252788	134240794	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG04199.hp1 HG02602.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0152 a0001c0001t0003g0183 a0001c0001t0003g0152 a0001c0001t0003g0183	2	159	0.0126	14	c.545 others(29): Show c.545+660_545+673dupGTGTGTGTGTGTGT	VPS26B	ENSG00000151502.11	transcript	ENST00000281187.10	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr11	TogoVar
VPS26C_chr21_37218422_37272334	37255851	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03130.hp1 NA20129.hp2 HG02970.hp1 HG03130.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0052 a0001c0001t0006g0049 a0001c0001t0006g0051 a0001c0001t0001g0052 a0001c0001t0006g0049 a0001c0001t0006g0051	3	48	0.0625	14	c.57+ others(31): Show c.57+11373_57+11386dupAAAAAAAAAAAAAA	VPS26C	ENSG00000157538.14	transcript	ENST00000309117.11	protein_coding	1/7			chr21	TogoVar
VPS33A_chr12_122224564_122271494	122238770	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02486.hp1 HG02559.hp1 others(3): Show HG02055.hp1 HG02486.hp1 HG02559.hp1 HG02965.hp2 HG03195.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0283 a0001c0001t0001g0288 others(2): Show a0001c0001t0001g0023 a0001c0001t0001g0283 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0295	6	116	0.0517	14	c.116 others(29): Show c.1165-60_1165-47dupGTGTGTGTGTGTGT	VPS33A	ENSG00000139719.11	transcript	ENST00000267199.9	protein_coding	9/12			chr12	TogoVar
VPS33A_chr12_122224564_122271494	122239749	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01358.hp1 HG01978.hp1 others(15): Show HG00673.hp2 HG01358.hp1 HG01978.hp1 HG02132.hp2 HG02698.hp1 HG03239.hp1 HG03669.hp2 HG04199.hp1 NA18747.hp1 NA18960.hp1 NA18965.hp2 NA18967.hp1 NA18968.hp2 NA18987.hp2 NA19005.hp1 NA19012.hp1 NA19070.hp1 NA19077.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0002 a0001c0001t0008 a0004c0007t0002 a0001c0001t0002 a0001c0001t0008 a0004c0007t0002	a0001c0001t0002g0140 a0001c0001t0002g0143 a0001c0001t0002g0144 others(14): Show a0001c0001t0002g0140 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0158 a0001c0001t0002g0175 a0001c0001t0002g0181 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0204 a0001c0001t0002g0217 a0001c0001t0002g0223 a0001c0001t0002g0236 a0001c0001t0008g0016 a0004c0007t0002g0166	18	64	0.2813	14	c.116 others(31): Show c.1164+115_1164+128dupTTTTTTTTTTTTTT	VPS33A	ENSG00000139719.11	transcript	ENST00000267199.9	protein_coding	9/12			chr12	TogoVar
VPS33A_chr12_122224564_122271494	122248060	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01109.hp1 NA18968.hp2 HG01099.hp2 HG01109.hp1 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0001t0001 a0001c0001t0002 a0001c0001t0014	a0001c0001t0001g0243 a0001c0001t0002g0144 a0001c0001t0014g0235 a0001c0001t0001g0243 a0001c0001t0002g0144 a0001c0001t0014g0235	3	138	0.0217	14	c.775 others(31): Show c.775+1797_775+1810dupCACACACACACACA	VPS33A	ENSG00000139719.11	transcript	ENST00000267199.9	protein_coding	6/12			chr12	TogoVar
VPS33B_chr15_90993673_91027594	91017365	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0026 a0001c0003t0001g0026	1	317	0.0032	14	c.178 others(29): Show c.178-342_178-341insTTTTTTTTTTTTTT	VPS33B	ENSG00000184056.15	transcript	ENST00000333371.8	protein_coding	2/22			chr15	TogoVar
VPS33B_chr15_90993673_91027594	91017365	T T	TTAAAAAA others(7): Show TTAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0207 a0001c0005t0001g0207	1	317	0.0032	14	c.178 others(29): Show c.178-342_178-341insTTTTTTTTTTTTTA	VPS33B	ENSG00000184056.15	transcript	ENST00000333371.8	protein_coding	2/22			chr15	TogoVar
VPS33B_chr15_90993673_91027594	91017367	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0251 a0002c0002t0002g0251	1	128	0.0078	14	c.178 others(29): Show c.178-357_178-344dupATATATATATATAT	VPS33B	ENSG00000184056.15	transcript	ENST00000333371.8	protein_coding	2/22			chr15	TogoVar
VPS33B_chr15_90993673_91027594	91026979	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG03491.hp2 HG02280.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0225 a0001c0004t0001g0204 a0001c0001t0001g0225 a0001c0004t0001g0204	2	149	0.0134	14	c.-47 others(25): Show c.-4731_-4730insAAAAAAAAAAAAAA	VPS33B	ENSG00000184056.15	transcript	ENST00000333371.8	protein_coding		4386		chr15	TogoVar
VPS35L_chr16_19550703_19706163	19570834	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG03669.hp2 HG02040.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0254 a0001c0001t0001g0152 a0001c0001t0001g0254	2	20	0.1000	14	c.285 others(31): Show c.285+1286_285+1299dupATATATATATATAT	VPS35L	ENSG00000103544.17	transcript	ENST00000417362.7	protein_coding	3/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
VPS35L_chr16_19550703_19706163	19668591	A A	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02293.hp2 HG03831.hp2 others(3): Show HG02135.hp1 HG02293.hp2 HG03831.hp2 NA18939.hp1 NA18954.hp2 NA18962.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0037 a0001c0002t0001g0091 a0001c0002t0001g0123 others(3): Show a0001c0002t0001g0037 a0001c0002t0001g0091 a0001c0002t0001g0123 a0001c0002t0001g0221 a0001c0002t0001g0228 a0001c0002t0001g0271	6	134	0.0448	14	c.222 others(31): Show c.2222-553_2222-540dupTGTGTGTGTGTGTG	VPS35L	ENSG00000103544.17	transcript	ENST00000417362.7	protein_coding	26/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
VPS35L_chr16_19550703_19706163	19674184	C C	CTTTCTTT others(7): Show CTTTCTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0005 a0001c0002t0002g0005	1	150	0.0067	14	c.236 others(33): Show c.2361+4888_2361+4889insCTTTTTTTTTTTTT	VPS35L	ENSG00000103544.17	transcript	ENST00000417362.7	protein_coding	27/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
VPS35_chr16_46651132_46694178	46663862	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02809.hp2 HG03516.hp2 others(1): Show HG02559.hp1 HG02809.hp2 HG03516.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0045 a0001c0001t0002g0064 a0001c0001t0003g0030 others(1): Show a0001c0001t0001g0045 a0001c0001t0002g0064 a0001c0001t0003g0030 a0001c0001t0003g0031	4	8	0.5000	14	c.164 others(31): Show c.1648-714_1648-701dupAAAAAAAAAAAAAA	VPS35	ENSG00000069329.19	transcript	ENST00000299138.12	protein_coding	13/16			chr16	TogoVar
VPS35_chr16_46651132_46694178	46691958	A A	ACACACAC others(7): Show ACACACACACTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02280.hp1 HG01884.hp2 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0157 a0001c0001t0009g0158 a0001c0001t0009g0157 a0001c0001t0009g0158	2	9	0.2222	14	c.-28 others(25): Show c.-2826_-2825insAGAGAGTGTGTGTG	VPS35	ENSG00000069329.19	transcript	ENST00000299138.12	protein_coding		2781		chr16	TogoVar
VPS35_chr16_46651132_46694178	46691958	A A	ACTCTCTC others(7): Show ACTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0012	1	8	0.1250	14	c.-28 others(25): Show c.-2839_-2826dupAGAGAGAGAGAGAG	VPS35	ENSG00000069329.19	transcript	ENST00000299138.12	protein_coding		2781		chr16	TogoVar
VPS36_chr13_52407606_52455634	52436218	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02486.hp1 HG02886.hp1 others(3): Show HG01361.hp1 HG02486.hp1 HG02886.hp1 HG02922.hp2 HG03130.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0020	a0001c0001t0001g0060 a0001c0001t0001g0198 a0001c0001t0001g0256 others(3): Show a0001c0001t0001g0060 a0001c0001t0001g0198 a0001c0001t0001g0256 a0001c0001t0006g0141 a0001c0001t0007g0202 a0001c0001t0020g0193	6	127	0.0472	14	c.351 others(27): Show c.351+58_351+71dupGTGTGTGTGTGTGT	VPS36	ENSG00000136100.14	transcript	ENST00000378060.9	protein_coding	4/13			chr13	TogoVar
VPS36_chr13_52407606_52455634	52445638	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	285	0.0035	14	c.97- others(29): Show c.97-3207_97-3194dupTTTTTTTTTTTTTT	VPS36	ENSG00000136100.14	transcript	ENST00000378060.9	protein_coding	1/13			chr13	TogoVar
VPS36_chr13_52407606_52455634	52452963	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	156	0.0064	14	c.-23 others(25): Show c.-2370_-2369insAAAAAAAAAAAAAA	VPS36	ENSG00000136100.14	transcript	ENST00000378060.9	protein_coding		2330		chr13	TogoVar
VPS37A_chr8_17241958_17303024	17256290	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02809.hp2 NA19240.hp1 HG01891.hp1 HG02809.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0302 a0001c0001t0008g0303 a0001c0001t0008g0304 a0001c0001t0008g0302 a0001c0001t0008g0303 a0001c0001t0008g0304	3	81	0.0370	14	c.125 others(31): Show c.125+8936_125+8949dupTTTTTTTTTTTTTT	VPS37A	ENSG00000155975.10	transcript	ENST00000324849.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS37B_chr12_122860330_122901124	122899094	C C	CACACACA others(7): Show CACACACACACACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	258	0.0039	14	c.-30 others(25): Show c.-3033_-3032insATGTGTGTGTGTGT	VPS37B	ENSG00000139722.7	transcript	ENST00000267202.7	protein_coding		2971		chr12	TogoVar
VPS37C_chr11_61125257_61166426	61163479	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02451.hp2 HG02486.hp1 others(9): Show HG02055.hp2 HG02451.hp2 HG02486.hp1 HG02615.hp2 HG02818.hp1 HG02818.hp2 HG02897.hp1 HG02965.hp2 HG03669.hp1 HG03688.hp1 HG03927.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0001c0001t0001 a0001c0001t0004 a0002c0002t0001	a0001c0001t0001g0019 a0001c0001t0001g0117 a0001c0001t0001g0118 others(9): Show a0001c0001t0001g0019 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0004g0120 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0176	12	41	0.2927	14	c.-20 others(25): Show c.-2096_-2095insAAAAAAAAAAAAAA	VPS37C	ENSG00000167987.11	transcript	ENST00000301765.10	protein_coding		2054		chr11	TogoVar
VPS41_chr7_38717974_38914191	38720560	G G	GTATGTAT others(7): Show GTATGTATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0146 a0001c0002t0017g0146	1	219	0.0046	14	c.56 others(25): Show c.5685_*5686insTATATATATACATA	VPS41	ENSG00000006715.16	transcript	ENST00000310301.9	protein_coding		2413		chr7	TogoVar
VPS41_chr7_38717974_38914191	38723723	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00438.hp2 HG00741.hp1 HG01884.hp1 others(9): Show HG00438.hp2 HG00741.hp1 HG01884.hp1 HG02040.hp1 HG02056.hp1 HG02074.hp2 HG02135.hp2 HG02647.hp2 NA18982.hp2 NA18993.hp2 NA19060.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0045 a0001c0001t0006 a0001c0001t0045	a0001c0001t0006g0063 a0001c0001t0006g0112 a0001c0001t0006g0214 others(9): Show a0001c0001t0006g0063 a0001c0001t0006g0112 a0001c0001t0006g0214 a0001c0001t0006g0222 a0001c0001t0006g0233 a0001c0001t0006g0241 a0001c0001t0006g0248 a0001c0001t0006g0249 a0001c0001t0006g0254 a0001c0001t0006g0260 a0001c0001t0006g0268 a0001c0001t0045g0266	12	83	0.1446	14	c.25 others(25): Show c.2509_*2522dupTTTTTTTTTTTTTT	VPS41	ENSG00000006715.16	transcript	ENST00000310301.9	protein_coding	29/29	2522		chr7	TogoVar

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