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
VPS13A_chr9_77172534_77426537	77377203	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0035 a0001c0037t0035	a0001c0037t0035g0010 a0001c0037t0035g0010	1	153	0.0065	13	c.907 others(32): Show c.9078-4758_9078-4746dupTTTTTTTTTTTTT	VPS13A	ENSG00000197969.14	transcript	ENST00000360280.8	protein_coding	67/71		INFO_REALIGN_3_PRIME	chr9	TogoVar
VPS13A_chr9_77172534_77426537	77400223	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00741.hp1 HG02109.hp2 others(7): Show HG00642.hp1 HG00741.hp1 HG02109.hp2 HG02630.hp1 HG02647.hp1 HG02965.hp2 HG02976.hp1 HG03453.hp2 HG03471.hp1 NA19030.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0037 a0001c0042 others(1): Show a0001c0001 a0001c0037 a0001c0042 a0006c0019	a0001c0001t0007 a0001c0001t0034 a0001c0037t0035 others(2): Show a0001c0001t0007 a0001c0001t0034 a0001c0037t0035 a0001c0042t0013 a0006c0019t0023	a0001c0001t0007g0131 a0001c0001t0007g0132 a0001c0001t0007g0141 others(7): Show a0001c0001t0007g0131 a0001c0001t0007g0132 a0001c0001t0007g0141 a0001c0001t0007g0142 a0001c0001t0007g0200 a0001c0001t0007g0201 a0001c0001t0034g0009 a0001c0037t0035g0010 a0001c0042t0013g0204 a0006c0019t0023g0012	10	133	0.0752	13	c.919 others(32): Show c.9190-3003_9190-2991dupTTTTTTTTTTTTT	VPS13A	ENSG00000197969.14	transcript	ENST00000360280.8	protein_coding	68/71		INFO_REALIGN_3_PRIME	chr9	TogoVar
VPS13A_chr9_77172534_77426537	77411660	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01515.hp1 HG03195.hp2 others(3): Show HG01168.hp2 HG01515.hp1 HG03195.hp2 NA18981.hp2 NA19056.hp1 NA20300.hp2	a0001 a0007 a0001 a0007	a0001c0005 a0001c0006 a0007c0015 a0001c0005 a0001c0006 a0007c0015	a0001c0005t0005 a0001c0006t0005 a0001c0006t0012 others(1): Show a0001c0005t0005 a0001c0006t0005 a0001c0006t0012 a0007c0015t0005	a0001c0005t0005g0025 a0001c0005t0005g0037 a0001c0006t0005g0019 others(3): Show a0001c0005t0005g0025 a0001c0005t0005g0037 a0001c0006t0005g0019 a0001c0006t0005g0024 a0001c0006t0012g0029 a0007c0015t0005g0021	6	92	0.0652	13	c.947 others(32): Show c.9474+4066_9474+4078dupAAAAAAAAAAAAA	VPS13A	ENSG00000197969.14	transcript	ENST00000360280.8	protein_coding	71/71		INFO_REALIGN_3_PRIME	chr9	TogoVar
VPS13B_chr8_99008274_99882580	99014110	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02922.hp1 HG02895.hp1 HG02922.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0006 a0003c0005t0004 a0003c0005t0006	a0003c0005t0004g0130 a0003c0005t0006g0129 a0003c0005t0004g0130 a0003c0005t0006g0129	2	62	0.0323	13	c.147 others(28): Show c.147+188_147+200dupTTTTTTTTTTTTT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	2/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99212660	T T	TTTCTCTT others(6): Show TTTCTCTTCCTACC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00408.hp1 others(82): Show HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00597.hp2 HG00609.hp1 HG00642.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01261.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02040.hp2 HG02074.hp1 HG02080.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp2 HG02273.hp1 HG02300.hp2 HG02451.hp2 HG02523.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03453.hp1 HG03453.hp2 HG03579.hp2 HG03834.hp1 HG03834.hp2 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18950.hp2 NA18952.hp2 NA18984.hp1 NA18991.hp2 NA18992.hp1 NA19003.hp1 NA19004.hp2 NA19058.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19078.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0007 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0021	a0001c0001 a0001c0002 a0001c0010 others(24): Show a0001c0001 a0001c0002 a0001c0010 a0001c0016 a0001c0020 a0001c0035 a0002c0003 a0002c0018 a0003c0004 a0003c0005 a0003c0006 a0003c0007 a0003c0033 a0004c0022 a0004c0023 a0007c0014 a0009c0015 a0010c0025 a0011c0034 a0012c0028 a0013c0029 a0014c0019 a0015c0032 a0016c0024 a0017c0031 a0018c0013 a0021c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0001c0002t0001 a0001c0002t0002 a0001c0002t0009 a0001c0010t0005 a0001c0016t0004 a0001c0020t0002 a0001c0035t0002 a0002c0003t0003 a0002c0003t0008 a0002c0018t0003 a0003c0004t0001 a0003c0005t0004 a0003c0005t0006 a0003c0006t0004 a0003c0007t0005 a0003c0033t0006 a0004c0022t0004 a0004c0023t0005 a0007c0014t0002 a0009c0015t0004 a0010c0025t0010 a0011c0034t0001 a0012c0028t0002 a0013c0029t0003 a0014c0019t0002 a0015c0032t0006 a0016c0024t0005 a0017c0031t0006 a0018c0013t0001 a0021c0026t0003	a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0073 others(82): Show a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0107 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0062 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0098 a0001c0001t0002g0103 a0001c0001t0002g0110 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0004g0091 a0001c0001t0004g0118 a0001c0001t0011g0092 a0001c0002t0001g0047 a0001c0002t0001g0068 a0001c0002t0001g0077 a0001c0002t0001g0079 a0001c0002t0001g0085 a0001c0002t0001g0087 a0001c0002t0001g0096 a0001c0002t0002g0046 a0001c0002t0009g0045 a0001c0010t0005g0048 a0001c0016t0004g0089 a0001c0020t0002g0082 a0001c0035t0002g0104 a0002c0003t0003g0057 a0002c0003t0003g0058 a0002c0003t0003g0059 a0002c0003t0003g0080 a0002c0003t0003g0086 a0002c0003t0003g0099 a0002c0003t0003g0100 a0002c0003t0003g0101 a0002c0003t0003g0111 a0002c0003t0008g0067 a0002c0003t0008g0071 a0002c0018t0003g0095 a0003c0004t0001g0065 a0003c0004t0001g0066 a0003c0004t0001g0090 a0003c0004t0001g0112 a0003c0005t0004g0130 a0003c0005t0004g0132 a0003c0005t0006g0129 a0003c0005t0006g0131 a0003c0006t0004g0109 a0003c0006t0004g0127 a0003c0006t0004g0128 a0003c0007t0005g0049 a0003c0007t0005g0060 a0003c0033t0006g0134 a0004c0022t0004g0122 a0004c0023t0005g0106 a0007c0014t0002g0097 a0009c0015t0004g0083 a0010c0025t0010g0108 a0011c0034t0001g0063 a0012c0028t0002g0078 a0013c0029t0003g0088 a0014c0019t0002g0055 a0015c0032t0006g0133 a0016c0024t0005g0123 a0017c0031t0006g0054 a0018c0013t0001g0102 a0021c0026t0003g0126	85	132	0.6439	13	c.251 others(34): Show c.2515+19611_2515+19612insCTACCTTCTCTTC	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	17/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99270131	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp1 HG00609.hp2 others(10): Show HG00408.hp2 HG00597.hp1 HG00609.hp2 HG01433.hp2 HG01496.hp2 HG01884.hp1 HG01934.hp2 HG01978.hp2 HG02040.hp1 HG02074.hp2 HG02300.hp1 NA18992.hp2 NA19004.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0020	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0004c0023 a0020c0030	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(3): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0002c0003t0003 a0004c0023t0005 a0020c0030t0001	a0001c0001t0002g0021 a0001c0001t0002g0026 a0001c0001t0002g0040 others(10): Show a0001c0001t0002g0021 a0001c0001t0002g0026 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0035 a0001c0002t0002g0001 a0002c0003t0003g0024 a0004c0023t0005g0106 a0020c0030t0001g0105	13	28	0.4643	13	c.251 others(32): Show c.2516-4053_2516-4041dupTTTTTTTTTTTTT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	17/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99326452	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0057 a0002c0003t0003g0057	1	34	0.0294	13	c.282 others(34): Show c.2824+51216_2824+51228dupTTTTTTTTTTTTT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	19/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99624008	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02523.hp1 HG00738.hp2 HG02523.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0008 a0001c0002t0001g0014 a0001c0002t0001g0008 a0001c0002t0001g0014	2	106	0.0189	13	c.522 others(34): Show c.5221-17803_5221-17802insATATATATATATA	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	33/61			chr8	TogoVar
VPS13B_chr8_99008274_99882580	99640043	G G	GAAGAAGA others(6): Show GAAGAAGAAGAGAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	126	0.0079	13	c.522 others(32): Show c.5221-1761_5221-1760insAGAGAAAAGAAGA	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(6): Show GAAGAAGAAGAAGA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0016 a0016	a0016c0024 a0016c0024	a0016c0024t0005 a0016c0024t0005	a0016c0024t0005g0123 a0016c0024t0005g0123	1	70	0.0143	13	c.522 others(32): Show c.5221-1761_5221-1760insAGAAGAAGAAGAA	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	33/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99657470	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02145.hp1 others(6): Show HG01884.hp1 HG01891.hp1 HG02145.hp1 HG02895.hp1 HG02970.hp2 HG03130.hp2 HG03195.hp2 NA18950.hp1 NA19063.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0002 a0001c0008 a0003c0005 others(3): Show a0001c0002 a0001c0008 a0003c0005 a0004c0022 a0004c0023 a0005c0009	a0001c0002t0001 a0001c0008t0005 a0003c0005t0004 others(4): Show a0001c0002t0001 a0001c0008t0005 a0003c0005t0004 a0003c0005t0006 a0004c0022t0004 a0004c0023t0005 a0005c0009t0004	a0001c0002t0001g0013 a0001c0002t0001g0023 a0001c0008t0005g0124 others(6): Show a0001c0002t0001g0013 a0001c0002t0001g0023 a0001c0008t0005g0124 a0003c0005t0004g0130 a0003c0005t0004g0132 a0003c0005t0006g0131 a0004c0022t0004g0122 a0004c0023t0005g0106 a0005c0009t0004g0120	9	51	0.1765	13	c.590 others(32): Show c.5909-3884_5909-3883insGTGTGTGTGTGTG	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	34/61			chr8	TogoVar
VPS13B_chr8_99008274_99882580	99763163	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0112 a0003c0004t0001g0112	1	129	0.0078	13	c.705 others(32): Show c.7051-3609_7051-3608insAAAAAAAAAAGAA	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(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01109.hp1 HG01981.hp2 others(4): Show HG01106.hp1 HG01109.hp1 HG01981.hp2 HG03834.hp2 NA18612.hp2 NA18984.hp2 NA19078.hp1	a0001 a0003 a0009 others(1): Show a0001 a0003 a0009 a0019	a0001c0002 a0003c0006 a0009c0015 others(1): Show a0001c0002 a0003c0006 a0009c0015 a0019c0017	a0001c0002t0001 a0003c0006t0004 a0009c0015t0004 others(1): Show a0001c0002t0001 a0003c0006t0004 a0009c0015t0004 a0019c0017t0001	a0001c0002t0001g0029 a0001c0002t0001g0038 a0003c0006t0004g0109 others(4): Show a0001c0002t0001g0029 a0001c0002t0001g0038 a0003c0006t0004g0109 a0003c0006t0004g0127 a0003c0006t0004g0128 a0009c0015t0004g0083 a0019c0017t0001g0012	7	67	0.1045	13	c.933 others(32): Show c.9331-1291_9331-1279dupTTTTTTTTTTTTT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	51/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13C_chr15_61847389_62065447	61923861	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0004 a0005c0005t0004	a0005c0005t0004g0203 a0005c0005t0004g0203	1	100	0.0100	13	c.661 others(32): Show c.6610-1112_6610-1100dupAAAAAAAAAAAAA	VPS13C	ENSG00000129003.19	transcript	ENST00000644861.2	protein_coding	53/84			chr15	TogoVar
VPS13D_chr1_12225030_12517047	12381922	T T	TTTTCTTT others(6): Show TTTTCTTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02683.hp1 NA19068.hp2 HG01928.hp2 HG02683.hp1 NA19068.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0004 a0008c0026 a0001c0001 a0002c0004 a0008c0026	a0001c0001t0001 a0002c0004t0001 a0008c0026t0006 a0001c0001t0001 a0002c0004t0001 a0008c0026t0006	a0001c0001t0001g0097 a0002c0004t0001g0090 a0008c0026t0006g0128 a0001c0001t0001g0097 a0002c0004t0001g0090 a0008c0026t0006g0128	3	81	0.0370	13	c.111 others(34): Show c.11191-1047_11191-1046insTCTTTCTTTCTTT	VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	57/69		INFO_REALIGN_3_PRIME	chr1	TogoVar
VPS16_chr20_2835745_2871732	2854265	A A	ACACACAC others(6): Show ACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0169 a0001c0001t0003g0169	1	401	0.0025	13	c.54- others(28): Show c.54-5454_54-5453insCACACACACACAC	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
VPS16_chr20_2835745_2871732	2868310	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp1 NA19060.hp1 NA19089.hp2 NA18952.hp1 NA19060.hp1 NA19089.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0015 a0002c0005t0004g0043 a0002c0005t0004g0015 a0002c0005t0004g0043	3	245	0.0122	13	c.17 others(24): Show c.1736_*1737insTTTTTTTTTTTTT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding		1579		chr20	TogoVar
VPS18_chr15_40889450_40908975	40905237	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00741.hp1 HG02056.hp1 others(46): Show HG00642.hp1 HG00741.hp1 HG02056.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02976.hp1 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG06807.hp1 HG06807.hp2 NA19009.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp2 NA19088.hp1 NA19240.hp1 NA20300.hp1 NA20905.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0007c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0002t0002 a0001c0002t0007 a0001c0003t0001 a0001c0003t0002 a0001c0007t0002 a0001c0007t0015 a0007c0012t0006	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0009 others(21): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0003g0005 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0055 a0001c0001t0006g0061 a0001c0001t0011g0009 a0001c0002t0002g0002 a0001c0002t0002g0028 a0001c0002t0007g0002 a0001c0003t0001g0016 a0001c0003t0001g0038 a0001c0003t0002g0023 a0001c0003t0002g0024 a0001c0007t0002g0025 a0001c0007t0015g0041 a0007c0012t0006g0060	49	302	0.1623	13	c.18 others(24): Show c.1896_*1897insTTTTTTTTTTTTT	VPS18	ENSG00000104142.11	transcript	ENST00000220509.10	protein_coding		1263		chr15	TogoVar
VPS25_chr17_42768449_42784599	42769936	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG02055.hp1 HG02132.hp2 others(19): Show HG01109.hp2 HG02055.hp1 HG02132.hp2 HG02572.hp1 HG02809.hp1 HG02886.hp2 HG03041.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03486.hp2 HG03579.hp1 HG03704.hp2 HG03831.hp1 HG03927.hp1 HG04228.hp2 NA18948.hp1 NA18977.hp1 NA18989.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0002c0004t0001	a0001c0002t0001g0006 a0001c0002t0001g0025 a0001c0002t0001g0026 others(6): Show a0001c0002t0001g0006 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0028 a0001c0002t0002g0008 a0001c0002t0002g0015 a0001c0002t0002g0027 a0001c0002t0003g0024 a0002c0004t0001g0007	22	267	0.0824	13	c.-35 others(24): Show c.-3540_-3539insTTTTTTTTTTTTT	VPS25	ENSG00000131475.7	transcript	ENST00000253794.7	protein_coding		3512		chr17	TogoVar
VPS26C_chr21_37218422_37272334	37255851	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	46	0.0217	13	c.57+ others(30): Show c.57+11374_57+11386dupAAAAAAAAAAAAA	VPS26C	ENSG00000157538.14	transcript	ENST00000309117.11	protein_coding	1/7			chr21	TogoVar
VPS33A_chr12_122224564_122271494	122239749	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01258.hp2 HG01261.hp2 others(31): Show HG00621.hp1 HG01258.hp2 HG01261.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp1 HG01934.hp1 HG01952.hp1 HG02071.hp1 HG02080.hp1 HG02132.hp1 HG02135.hp2 HG03017.hp1 HG03492.hp2 HG03540.hp2 HG03688.hp1 HG03834.hp1 HG03942.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18950.hp1 NA18952.hp2 NA18965.hp1 NA18966.hp1 NA18973.hp1 NA18988.hp1 NA18999.hp1 NA18999.hp2 NA19058.hp1 NA19080.hp1 NA19085.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 others(24): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0014 a0001c0001t0002g0046 a0001c0001t0002g0142 a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0002g0171 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0190 a0001c0001t0002g0197 a0001c0001t0002g0201 a0001c0001t0002g0203 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0213 a0001c0001t0002g0215 a0001c0001t0002g0221 a0001c0001t0002g0232 a0001c0001t0008g0216	34	80	0.4250	13	c.116 others(30): Show c.1164+116_1164+128dupTTTTTTTTTTTTT	VPS33A	ENSG00000139719.11	transcript	ENST00000267199.9	protein_coding	9/12			chr12	TogoVar
VPS33B_chr15_90993673_91027594	91017365	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0057 a0001c0007t0001g0057	1	317	0.0032	13	c.178 others(28): Show c.178-342_178-341insTTTTTTTTTTTTT	VPS33B	ENSG00000184056.15	transcript	ENST00000333371.8	protein_coding	2/22			chr15	TogoVar
VPS33B_chr15_90993673_91027594	91026979	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03486.hp2 HG03098.hp1 HG03486.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0012 a0001c0007t0001g0063 a0001c0007t0001g0012 a0001c0007t0001g0063	2	149	0.0134	13	c.-47 others(24): Show c.-4731_-4730insAAAAAAAAAAAAA	VPS33B	ENSG00000184056.15	transcript	ENST00000333371.8	protein_coding		4386		chr15	TogoVar
VPS35L_chr16_19550703_19706163	19570885	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0008 a0001c0002t0001g0008	1	269	0.0037	13	c.285 others(30): Show c.285+1295_285+1296insTTTTTTTTTTTTT	VPS35L	ENSG00000103544.17	transcript	ENST00000417362.7	protein_coding	3/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
VPS35L_chr16_19550703_19706163	19674184	C C	CTTTCTTT others(6): Show CTTTCTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03540.hp2 HG02630.hp1 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0009 a0001c0002t0002g0006 a0001c0002t0001g0009 a0001c0002t0002g0006	2	151	0.0132	13	c.236 others(32): Show c.2361+4888_2361+4889insCTTTTTTTTTTTT	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(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02886.hp2 HG02615.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0107 a0001c0001t0001g0083 a0001c0001t0001g0107	2	6	0.3333	13	c.164 others(30): Show c.1648-713_1648-701dupAAAAAAAAAAAAA	VPS35	ENSG00000069329.19	transcript	ENST00000299138.12	protein_coding	13/16			chr16	TogoVar
VPS36_chr13_52407606_52455634	52445638	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA19030.hp1 HG03130.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0194 a0001c0001t0001g0198	2	286	0.0070	13	c.97- others(28): Show c.97-3206_97-3194dupTTTTTTTTTTTTT	VPS36	ENSG00000136100.14	transcript	ENST00000378060.9	protein_coding	1/13			chr13	TogoVar
VPS36_chr13_52407606_52455634	52452963	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG01261.hp1 HG01891.hp2 others(8): Show HG00621.hp2 HG01261.hp1 HG01891.hp2 HG01943.hp2 HG01952.hp1 HG02055.hp2 HG02922.hp2 HG06807.hp2 NA18940.hp1 NA18941.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0020 a0001c0001t0001 a0001c0001t0009 a0001c0001t0020	a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0074 others(8): Show a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0088 a0001c0001t0001g0100 a0001c0001t0001g0118 a0001c0001t0001g0136 a0001c0001t0001g0192 a0001c0001t0009g0030 a0001c0001t0020g0193	11	166	0.0663	13	c.-23 others(24): Show c.-2370_-2369insAAAAAAAAAAAAA	VPS36	ENSG00000136100.14	transcript	ENST00000378060.9	protein_coding		2330		chr13	TogoVar
VPS37A_chr8_17241958_17303024	17256290	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02922.hp2 HG03139.hp1 others(1): Show HG02257.hp1 HG02922.hp2 HG03139.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0013 a0001c0001t0008 a0001c0001t0013	a0001c0001t0008g0030 a0001c0001t0008g0203 a0001c0001t0013g0156 a0001c0001t0008g0030 a0001c0001t0008g0203 a0001c0001t0013g0156	4	82	0.0488	13	c.125 others(30): Show c.125+8937_125+8949dupTTTTTTTTTTTTT	VPS37A	ENSG00000155975.10	transcript	ENST00000324849.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS37C_chr11_61125257_61166426	61163479	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG02258.hp1 HG02486.hp2 others(10): Show HG01496.hp2 HG02258.hp1 HG02486.hp2 HG02723.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03139.hp2 HG03471.hp1 HG06807.hp2 NA18522.hp2 NA19043.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0001g0101 others(9): Show a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0001g0101 a0001c0001t0001g0115 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0004g0116	13	42	0.3095	13	c.-20 others(24): Show c.-2096_-2095insAAAAAAAAAAAAA	VPS37C	ENSG00000167987.11	transcript	ENST00000301765.10	protein_coding		2054		chr11	TogoVar
VPS41_chr7_38717974_38914191	38720484	T T	TTATTATA others(6): Show TTATTATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0136 a0001c0002t0010g0136	1	261	0.0038	13	c.57 others(24): Show c.5761_*5762insTATATATATAATA	VPS41	ENSG00000006715.16	transcript	ENST00000310301.9	protein_coding		2489		chr7	TogoVar
VPS41_chr7_38717974_38914191	38723723	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00558.hp2 HG01243.hp1 HG01433.hp1 others(19): Show HG00558.hp2 HG01243.hp1 HG01433.hp1 HG02040.hp2 HG02055.hp2 HG02083.hp1 HG02129.hp2 HG02257.hp2 HG02523.hp1 HG02896.hp1 HG02970.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp2 NA18906.hp2 NA18943.hp2 NA18948.hp1 NA18980.hp1 NA18999.hp1 NA19003.hp1 NA19090.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0060 a0001c0003t0003 a0001c0001t0003 a0001c0001t0060 a0001c0003t0003	a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 others(19): Show a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0062 a0001c0001t0003g0064 a0001c0001t0003g0066 a0001c0001t0003g0091 a0001c0001t0003g0135 a0001c0001t0003g0167 a0001c0001t0003g0218 a0001c0001t0003g0223 a0001c0001t0003g0226 a0001c0001t0003g0234 a0001c0001t0003g0242 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0265 a0001c0001t0060g0271 a0001c0003t0003g0071	22	93	0.2366	13	c.25 others(24): Show c.2510_*2522dupTTTTTTTTTTTTT	VPS41	ENSG00000006715.16	transcript	ENST00000310301.9	protein_coding	29/29	2522		chr7	TogoVar
VPS41_chr7_38717974_38914191	38724604	C C	CTTTTCTT others(6): Show CTTTTCTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG01261.hp1 HG01981.hp1 others(7): Show HG00099.hp1 HG01261.hp1 HG01981.hp1 HG03490.hp1 HG03710.hp1 HG03831.hp1 HG04199.hp1 HG04204.hp1 NA18950.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0015 a0001c0001t0023 a0001c0001t0055 others(1): Show a0001c0001t0015 a0001c0001t0023 a0001c0001t0055 a0001c0014t0015	a0001c0001t0015g0187 a0001c0001t0015g0189 a0001c0001t0015g0190 others(7): Show a0001c0001t0015g0187 a0001c0001t0015g0189 a0001c0001t0015g0190 a0001c0001t0015g0194 a0001c0001t0023g0086 a0001c0001t0023g0191 a0001c0001t0023g0193 a0001c0001t0023g0208 a0001c0001t0055g0087 a0001c0014t0015g0188	10	187	0.0535	13	c.16 others(24): Show c.1641_*1642insAAAAAAAAGAAAA	VPS41	ENSG00000006715.16	transcript	ENST00000310301.9	protein_coding	29/29	1641		chr7	TogoVar
VPS41_chr7_38717974_38914191	38724604	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0271 a0001c0001t0060g0271	1	178	0.0056	13	c.16 others(24): Show c.1641_*1642insAAAAAAAAAAAAA	VPS41	ENSG00000006715.16	transcript	ENST00000310301.9	protein_coding	29/29	1641		chr7	TogoVar
VPS4A_chr16_69306350_69331939	69310070	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG01993.hp1 HG00099.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0032 a0001c0001t0001g0020 a0001c0001t0001g0032	2	35	0.0571	13	c.-14 others(24): Show c.-1442_-1441insTTTTTTTTTTTTT	VPS4A	ENSG00000132612.16	transcript	ENST00000254950.13	protein_coding		1279		chr16	TogoVar
VPS52_chr6_33245278_33276876	33262040	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02965.hp2 HG03041.hp1 others(1): Show HG02922.hp1 HG02965.hp2 HG03041.hp1 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0139 a0001c0001t0001g0164 a0001c0001t0001g0166 others(1): Show a0001c0001t0001g0139 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0005g0165	4	100	0.0400	13	c.179 others(32): Show c.1794+1431_1794+1443dupTTTTTTTTTTTTT	VPS52	ENSG00000223501.9	transcript	ENST00000445902.3	protein_coding	17/19			chr6	TogoVar
VPS53_chr17_503668_719839	669592	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00621.hp1 HG02040.hp1 others(15): Show HG00423.hp1 HG00621.hp1 HG02040.hp1 HG02074.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG03942.hp1 HG04199.hp1 NA18612.hp1 NA18957.hp2 NA18983.hp1 NA18986.hp1 NA18987.hp1 NA19066.hp2 NA19074.hp1 NA19080.hp2 NA19084.hp2	a0002 a0004 a0005 a0002 a0004 a0005	a0002c0003 a0004c0008 a0005c0009 a0002c0003 a0004c0008 a0005c0009	a0002c0003t0008 a0002c0003t0009 a0002c0003t0018 others(11): Show a0002c0003t0008 a0002c0003t0009 a0002c0003t0018 a0002c0003t0019 a0002c0003t0030 a0002c0003t0040 a0002c0003t0086 a0002c0003t0087 a0002c0003t0089 a0002c0003t0101 a0002c0003t0132 a0002c0003t0137 a0004c0008t0039 a0005c0009t0139	a0002c0003t0008g0182 a0002c0003t0009g0186 a0002c0003t0009g0188 others(15): Show a0002c0003t0008g0182 a0002c0003t0009g0186 a0002c0003t0009g0188 a0002c0003t0018g0179 a0002c0003t0019g0172 a0002c0003t0019g0214 a0002c0003t0019g0231 a0002c0003t0030g0181 a0002c0003t0040g0115 a0002c0003t0040g0168 a0002c0003t0086g0175 a0002c0003t0087g0171 a0002c0003t0089g0190 a0002c0003t0101g0208 a0002c0003t0132g0167 a0002c0003t0137g0187 a0004c0008t0039g0207 a0005c0009t0139g0177	18	104	0.1731	13	c.286 others(30): Show c.286-7710_286-7698dupTTTTTTTTTTTTT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	4/21			chr17	TogoVar
VPS54_chr2_63887150_64024428	63909725	G G	GTTTTTGT others(6): Show GTTTTTGTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00642.hp2 HG00738.hp2 others(25): Show HG00280.hp2 HG00642.hp2 HG00738.hp2 HG01099.hp1 HG01123.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01934.hp1 HG01993.hp1 HG02004.hp1 HG02071.hp1 HG02135.hp1 HG02293.hp1 HG02683.hp1 HG03490.hp2 HG03831.hp1 HG03927.hp2 HG04115.hp2 HG06807.hp2 NA18954.hp1 NA18963.hp1 NA18965.hp1 NA18984.hp1 NA18985.hp2 NA18994.hp1 NA19009.hp2 NA19068.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0009 a0001c0001 a0005c0009	a0001c0001t0001 a0005c0009t0001 a0001c0001t0001 a0005c0009t0001	a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0028 others(25): Show a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0186 a0001c0001t0001g0265 a0005c0009t0001g0068	28	241	0.1162	13	c.262 others(32): Show c.2625+2619_2625+2620insAAAAAAACAAAAA	VPS54	ENSG00000143952.20	transcript	ENST00000272322.9	protein_coding	20/22			chr2	TogoVar
VPS54_chr2_63887150_64024428	63938059	G G	GTGTGTGT others(6): Show GTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0168 a0001c0001t0007g0168	1	103	0.0097	13	c.139 others(32): Show c.1399-4047_1399-4046insACACACACACACA	VPS54	ENSG00000143952.20	transcript	ENST00000272322.9	protein_coding	11/22			chr2	TogoVar
VPS54_chr2_63887150_64024428	63943727	C C	CTTTCTTT others(6): Show CTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG03017.hp1 HG03704.hp1 HG00280.hp1 HG03017.hp1 HG03704.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0294 a0001c0003t0003g0296 a0001c0003t0003g0298 a0001c0003t0003g0294 a0001c0003t0003g0296 a0001c0003t0003g0298	3	194	0.0155	13	c.130 others(30): Show c.1301+872_1301+873insAGAAAGAAAGAAA	VPS54	ENSG00000143952.20	transcript	ENST00000272322.9	protein_coding	10/22			chr2	TogoVar
VPS54_chr2_63887150_64024428	63967718	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01167.hp2 HG02683.hp2 others(2): Show HG01099.hp1 HG01167.hp2 HG02683.hp2 NA19072.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0059 a0001c0001t0001g0065 others(2): Show a0001c0001t0001g0014 a0001c0001t0001g0059 a0001c0001t0001g0065 a0001c0001t0001g0076 a0001c0001t0001g0186	5	114	0.0439	13	c.492 others(30): Show c.492+1226_492+1238dupTTTTTTTTTTTTT	VPS54	ENSG00000143952.20	transcript	ENST00000272322.9	protein_coding	5/22			chr2	TogoVar
VPS8_chr3_184807166_185057604	184842186	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02523.hp2 HG03942.hp2 others(1): Show HG02129.hp1 HG02523.hp2 HG03942.hp2 NA19011.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0168 a0002c0002t0001g0229 a0002c0002t0001g0230 others(1): Show a0002c0002t0001g0168 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0271	4	103	0.0388	13	c.536 others(30): Show c.536-1043_536-1031dupAAAAAAAAAAAAA	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184950216	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00735.hp1 HG02074.hp2 others(1): Show HG00544.hp1 HG00735.hp1 HG02074.hp2 NA18972.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0214 a0002c0002t0001g0219 a0002c0002t0001g0240 others(1): Show a0002c0002t0001g0214 a0002c0002t0001g0219 a0002c0002t0001g0240 a0002c0002t0001g0246	4	16	0.2500	13	c.303 others(32): Show c.3036-7142_3036-7130dupTTTTTTTTTTTTT	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	36/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VRK1_chr14_96792382_96886609	96832773	C C	CTTGCCCA others(6): Show CTTGCCCAGATGAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03225.hp1 HG03516.hp1 HG02622.hp2 HG03225.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085	3	276	0.0109	13	c.-5- others(26): Show c.-5-694_-5-693insTTGCCCAGATGAT	VRK1	ENSG00000100749.9	transcript	ENST00000216639.8	protein_coding	1/12			chr14	TogoVar
VRK2_chr2_58041806_58164871	58120184	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03209.hp1 HG03471.hp2 others(1): Show HG02109.hp1 HG03209.hp1 HG03471.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0318 a0001c0001t0001g0319 others(1): Show a0001c0001t0001g0279 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320	4	128	0.0313	13	c.544 others(30): Show c.544-2905_544-2893dupTTTTTTTTTTTTT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
VRK2_chr2_58041806_58164871	58150563	T T	TTTTTTTT others(6): Show TTTTTTTTTTTTAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA19030.hp1 HG01884.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0261 a0001c0003t0001g0263 a0001c0003t0001g0261 a0001c0003t0001g0263	2	338	0.0059	13	c.118 others(32): Show c.1182+4100_1182+4101insAGTTTTTTTTTTT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
VRK2_chr2_58041806_58164871	58151731	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18747.hp1 NA18963.hp2 others(2): Show HG02027.hp1 NA18747.hp1 NA18963.hp2 NA18977.hp1 NA18989.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0027 a0002c0002t0002g0063 a0002c0002t0002g0226 others(2): Show a0001c0001t0001g0027 a0002c0002t0002g0063 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0231	5	30	0.1667	13	c.118 others(32): Show c.1182+5281_1182+5293dupTTTTTTTTTTTTT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
VRK3_chr19_49971468_50030372	49998948	G G	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA19010.hp2 HG00673.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0111 a0001c0001t0002g0078 a0001c0001t0002g0111	2	84	0.0238	13	c.613 others(30): Show c.613-1391_613-1379dupTTTTTTTTTTTTT	VRK3	ENSG00000105053.11	transcript	ENST00000316763.8	protein_coding	6/14			chr19	TogoVar
VRK3_chr19_49971468_50030372	50019674	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG04228.hp2 HG01993.hp2 HG04228.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0009 a0001c0001 a0004c0009	a0001c0001t0001 a0004c0009t0001 a0001c0001t0001 a0004c0009t0001	a0001c0001t0001g0166 a0004c0009t0001g0305 a0001c0001t0001g0166 a0004c0009t0001g0305	2	18	0.1111	13	c.-2+ others(26): Show c.-2+898_-2+910dupAAAAAAAAAAAAA	VRK3	ENSG00000105053.11	transcript	ENST00000316763.8	protein_coding	2/14			chr19	TogoVar
VRTN_chr14_74343471_74365008	74344246	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	4	0.2500	13	c.-44 others(24): Show c.-4408_-4407insAAAAAAAAAAAAA	VRTN	ENSG00000133980.5	transcript	ENST00000256362.5	protein_coding		4224		chr14	TogoVar

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