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
NAALADL2_chr3_174854334_175815548	175605645	T T	TTTTTTGT others(2): Show TTTTTTGTTG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01261.hp2 HG01978.hp2 others(6): Show HG01074.hp2 HG01261.hp2 HG01978.hp2 HG02300.hp1 HG02809.hp2 HG02895.hp2 HG03453.hp1 NA19043.hp1 NA19043.hp2	a0002 a0003 a0004 others(2): Show a0002 a0003 a0004 a0005 a0006	a0002c0003 a0002c0007 a0003c0004 others(5): Show a0002c0003 a0002c0007 a0003c0004 a0003c0005 a0004c0008 a0005c0006 a0005c0011 a0006c0009	a0002c0003t0004 a0002c0007t0001 a0003c0004t0003 others(6): Show a0002c0003t0004 a0002c0007t0001 a0003c0004t0003 a0003c0004t0012 a0003c0005t0028 a0004c0008t0002 a0005c0006t0001 a0005c0011t0001 a0006c0009t0010	a0002c0003t0004g0046 a0002c0007t0001g0064 a0003c0004t0003g0028 others(6): Show a0002c0003t0004g0046 a0002c0007t0001g0064 a0003c0004t0003g0028 a0003c0004t0012g0058 a0003c0005t0028g0050 a0004c0008t0002g0062 a0005c0006t0001g0057 a0005c0011t0001g0053 a0006c0009t0010g0061	9	45	0.2000	9	c.180 others(30): Show c.1801-21641_1801-21640insGTTGTTTTT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175605645	T T	TTTTTTTT others(2): Show TTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01167.hp1 HG01169.hp2 others(9): Show HG00741.hp2 HG01167.hp1 HG01169.hp2 HG01884.hp2 HG02258.hp2 HG02615.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02965.hp2 HG03486.hp2 NA21309.hp2	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0005 a0008 a0009	a0001c0001 a0001c0013 a0003c0005 others(4): Show a0001c0001 a0001c0013 a0003c0005 a0004c0002 a0005c0006 a0008c0018 a0009c0016	a0001c0001t0007 a0001c0001t0019 a0001c0001t0031 others(9): Show a0001c0001t0007 a0001c0001t0019 a0001c0001t0031 a0001c0001t0033 a0001c0013t0005 a0003c0005t0009 a0004c0002t0009 a0004c0002t0018 a0004c0002t0030 a0005c0006t0013 a0008c0018t0001 a0009c0016t0002	a0001c0001t0007g0031 a0001c0001t0019g0002 a0001c0001t0031g0027 others(9): Show a0001c0001t0007g0031 a0001c0001t0019g0002 a0001c0001t0031g0027 a0001c0001t0033g0038 a0001c0013t0005g0018 a0003c0005t0009g0007 a0004c0002t0009g0006 a0004c0002t0018g0003 a0004c0002t0030g0055 a0005c0006t0013g0008 a0008c0018t0001g0043 a0009c0016t0002g0059	12	48	0.2500	9	c.180 others(30): Show c.1801-21638_1801-21637insGTTTTTTTT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175639318	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01167.hp1 HG01169.hp2 others(4): Show HG01109.hp2 HG01167.hp1 HG01169.hp2 HG02717.hp1 HG02895.hp1 HG03486.hp2 NA18522.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0008	a0001c0001 a0001c0013 a0003c0005 others(2): Show a0001c0001 a0001c0013 a0003c0005 a0004c0002 a0008c0019	a0001c0001t0033 a0001c0013t0005 a0003c0005t0007 others(4): Show a0001c0001t0033 a0001c0013t0005 a0003c0005t0007 a0004c0002t0008 a0004c0002t0009 a0004c0002t0030 a0008c0019t0014	a0001c0001t0033g0038 a0001c0013t0005g0018 a0003c0005t0007g0019 others(4): Show a0001c0001t0033g0038 a0001c0013t0005g0018 a0003c0005t0007g0019 a0004c0002t0008g0039 a0004c0002t0009g0006 a0004c0002t0030g0055 a0008c0019t0014g0004	7	26	0.2692	9	c.189 others(30): Show c.1896+11944_1896+11952dupTTTTTTTTT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NACC2_chr9_136001537_136100289	136051876	A A	AAGGAGGA others(2): Show AAGGAGGAGG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00639.hp1 HG01106.hp1 others(19): Show HG00621.hp1 HG00639.hp1 HG01106.hp1 HG01256.hp2 HG01884.hp1 HG02004.hp2 HG02257.hp2 HG02559.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp2 HG03098.hp1 HG03195.hp1 HG03225.hp2 HG03471.hp1 HG03669.hp2 HG04184.hp1 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA20129.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0008 a0001c0009 a0001c0017 a0002c0006	a0001c0001t0001 a0001c0001t0009 a0001c0001t0026 others(14): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0026 a0001c0001t0040 a0001c0002t0003 a0001c0003t0005 a0001c0003t0009 a0001c0005t0002 a0001c0005t0065 a0001c0007t0096 a0001c0008t0019 a0001c0008t0020 a0001c0008t0028 a0001c0009t0036 a0001c0009t0079 a0001c0017t0047 a0002c0006t0006	a0001c0001t0001g0079 a0001c0001t0009g0008 a0001c0001t0026g0336 others(19): Show a0001c0001t0001g0079 a0001c0001t0009g0008 a0001c0001t0026g0336 a0001c0001t0040g0166 a0001c0002t0003g0148 a0001c0003t0005g0009 a0001c0003t0005g0191 a0001c0003t0009g0347 a0001c0005t0002g0097 a0001c0005t0002g0210 a0001c0005t0002g0304 a0001c0005t0065g0226 a0001c0007t0096g0089 a0001c0008t0019g0046 a0001c0008t0019g0093 a0001c0008t0020g0048 a0001c0008t0028g0039 a0001c0009t0036g0091 a0001c0009t0079g0052 a0001c0017t0047g0249 a0002c0006t0006g0050 a0002c0006t0006g0051	22	272	0.0809	9	c.-59 others(26): Show c.-59-1305_-59-1297dupCCTCCTCCT	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	1/5			chr9	TogoVar
NACC2_chr9_136001537_136100289	136051915	G G	GAGGAGGA others(2): Show GAGGAGGAGA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp2 HG00673.hp2 others(9): Show HG00438.hp2 HG00621.hp2 HG00673.hp2 HG01257.hp2 HG02055.hp1 HG02647.hp1 HG02922.hp1 HG03540.hp1 NA18951.hp1 NA18995.hp1 NA19010.hp1 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0011 others(7): Show a0001c0001 a0001c0003 a0001c0011 a0001c0012 a0001c0014 a0001c0017 a0001c0036 a0001c0043 a0001c0045 a0002c0006	a0001c0001t0023 a0001c0003t0029 a0001c0011t0001 others(7): Show a0001c0001t0023 a0001c0003t0029 a0001c0011t0001 a0001c0012t0013 a0001c0014t0002 a0001c0017t0019 a0001c0036t0002 a0001c0043t0002 a0001c0045t0001 a0002c0006t0006	a0001c0001t0023g0155 a0001c0001t0023g0287 a0001c0003t0029g0105 others(9): Show a0001c0001t0023g0155 a0001c0001t0023g0287 a0001c0003t0029g0105 a0001c0011t0001g0118 a0001c0011t0001g0271 a0001c0012t0013g0171 a0001c0014t0002g0321 a0001c0017t0019g0011 a0001c0036t0002g0117 a0001c0043t0002g0053 a0001c0045t0001g0068 a0002c0006t0006g0088	12	278	0.0432	9	c.-59 others(26): Show c.-59-1336_-59-1335insTCTCCTCCT	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	1/5			chr9	TogoVar
NAGK_chr2_71063648_71084808	71081069	T T	TTTTATTT others(2): Show TTTTATTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02622.hp1 HG02723.hp1 HG02055.hp2 HG02622.hp1 HG02723.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0009 a0001c0004t0004g0009	3	440	0.0068	9	c.25 others(20): Show c.2561_*2562insTTTATTTTA	NAGK	ENSG00000124357.13	transcript	ENST00000244204.11	protein_coding		1262		chr2	TogoVar
NAIP_chr5_70963166_71030339	70982622	A A	ATTTTTTT others(2): Show ATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG00741.hp1 others(26): Show HG00438.hp1 HG00544.hp2 HG00741.hp1 HG01106.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp2 HG01515.hp2 HG01891.hp2 HG01981.hp1 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02129.hp1 HG02129.hp2 HG02602.hp2 HG02738.hp1 HG03492.hp1 HG03669.hp1 HG03669.hp2 HG03834.hp2 NA18747.hp2 NA18948.hp2 NA18952.hp2 NA18971.hp1 NA19012.hp1 NA19030.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0002c0002 others(1): Show a0001c0001 a0001c0005 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0028 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0028 a0001c0005t0001 a0002c0002t0001 a0003c0004t0001 a0003c0004t0006	a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0024 others(26): Show a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0062 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0004g0005 a0001c0001t0028g0106 a0001c0005t0001g0067 a0001c0005t0001g0068 a0001c0005t0001g0069 a0002c0002t0001g0059 a0003c0004t0001g0042 a0003c0004t0001g0045 a0003c0004t0006g0082	29	59	0.4915	9	c.327 others(28): Show c.3274+1144_3274+1152dupAAAAAAAAA	NAIP	ENSG00000249437.8	transcript	ENST00000517649.6	protein_coding	12/16			chr5	TogoVar
NAIP_chr5_70963166_71030339	70996792	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01071.hp1 HG01192.hp2 others(4): Show HG00280.hp1 HG01071.hp1 HG01192.hp2 HG01243.hp1 HG01433.hp1 HG01975.hp1 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0011 a0001c0003t0002 a0001c0003t0011	a0001c0003t0002g0131 a0001c0003t0002g0132 a0001c0003t0002g0133 others(4): Show a0001c0003t0002g0131 a0001c0003t0002g0132 a0001c0003t0002g0133 a0001c0003t0002g0135 a0001c0003t0002g0137 a0001c0003t0011g0139 a0001c0003t0011g0140	7	32	0.2188	9	c.102 others(28): Show c.1022+1923_1022+1931dupTTTTTTTTT	NAIP	ENSG00000249437.8	transcript	ENST00000517649.6	protein_coding	9/16			chr5	TogoVar
NALCN_chr13_101048776_101421508	101060275	G G	GTTTTTTT others(2): Show GTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG01074.hp2 others(22): Show HG00280.hp1 HG00408.hp2 HG01074.hp2 HG01081.hp1 HG01993.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02071.hp1 HG02132.hp1 HG02135.hp2 HG02300.hp2 HG02523.hp1 HG03017.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp2 HG03710.hp2 NA18941.hp1 NA18964.hp1 NA18980.hp2 NA19082.hp1 NA20752.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0001c0003 a0001c0007 others(3): Show a0001c0002 a0001c0003 a0001c0007 a0001c0015 a0001c0022 a0004c0028	a0001c0002t0002 a0001c0002t0019 a0001c0003t0002 others(4): Show a0001c0002t0002 a0001c0002t0019 a0001c0003t0002 a0001c0007t0002 a0001c0015t0002 a0001c0022t0002 a0004c0028t0002	a0001c0002t0002g0026 a0001c0002t0002g0030 a0001c0002t0002g0060 others(22): Show a0001c0002t0002g0026 a0001c0002t0002g0030 a0001c0002t0002g0060 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0078 a0001c0002t0002g0086 a0001c0002t0002g0100 a0001c0002t0002g0103 a0001c0002t0002g0105 a0001c0002t0002g0108 a0001c0002t0002g0124 a0001c0002t0002g0129 a0001c0002t0002g0132 a0001c0002t0002g0140 a0001c0002t0002g0141 a0001c0002t0002g0151 a0001c0002t0002g0156 a0001c0002t0002g0162 a0001c0002t0019g0145 a0001c0003t0002g0117 a0001c0007t0002g0071 a0001c0015t0002g0082 a0001c0022t0002g0047 a0004c0028t0002g0046	25	79	0.3165	9	c.475 others(26): Show c.4756-317_4756-309dupAAAAAAAAA	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	41/43			chr13	TogoVar
NALF1_chr13_107158510_107872496	107292992	C C	CTTTTTCT others(2): Show CTTTTTCTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp1 HG00642.hp2 others(34): Show HG00323.hp2 HG00642.hp1 HG00642.hp2 HG00738.hp1 HG00741.hp2 HG01884.hp2 HG01943.hp1 HG01993.hp1 HG02056.hp2 HG02135.hp2 HG02615.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02895.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03486.hp1 HG03516.hp2 HG04199.hp2 NA18747.hp2 NA18906.hp1 NA18967.hp1 NA18995.hp2 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp2 NA19011.hp2 NA19030.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(32): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0014 a0001c0001t0022 a0001c0001t0023 a0001c0001t0030 a0001c0001t0031 a0001c0001t0039 a0001c0001t0042 a0001c0001t0047 a0001c0001t0055 a0001c0001t0056 a0001c0001t0063 a0001c0001t0066 a0001c0001t0069 a0001c0001t0070 a0001c0001t0087 a0001c0001t0088 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0002t0002 a0001c0002t0013 a0001c0002t0034 a0001c0002t0036 a0001c0002t0046 a0001c0002t0064 a0002c0003t0003 a0002c0003t0006 a0002c0003t0089 a0003c0004t0016	a0001c0001t0001g0037 a0001c0001t0003g0100 a0001c0001t0004g0033 others(34): Show a0001c0001t0001g0037 a0001c0001t0003g0100 a0001c0001t0004g0033 a0001c0001t0005g0059 a0001c0001t0008g0093 a0001c0001t0011g0057 a0001c0001t0014g0049 a0001c0001t0022g0011 a0001c0001t0023g0008 a0001c0001t0030g0018 a0001c0001t0031g0017 a0001c0001t0039g0052 a0001c0001t0042g0044 a0001c0001t0047g0069 a0001c0001t0055g0067 a0001c0001t0056g0062 a0001c0001t0063g0034 a0001c0001t0066g0028 a0001c0001t0069g0031 a0001c0001t0070g0048 a0001c0001t0087g0105 a0001c0001t0088g0090 a0001c0001t0093g0094 a0001c0001t0094g0091 a0001c0001t0095g0127 a0001c0002t0002g0087 a0001c0002t0013g0082 a0001c0002t0034g0022 a0001c0002t0036g0021 a0001c0002t0046g0081 a0001c0002t0064g0078 a0002c0003t0003g0124 a0002c0003t0006g0118 a0002c0003t0006g0121 a0002c0003t0089g0120 a0003c0004t0016g0111 a0003c0004t0016g0113	37	77	0.4805	9	c.916 others(28): Show c.916-82238_916-82237insAAAGAAAAA	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107299435	C C	CAATAATA others(2): Show CAATAATAAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03098.hp2 HG03486.hp1 others(2): Show HG03041.hp2 HG03098.hp2 HG03486.hp1 NA18967.hp1 NA19002.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0039 a0001c0001t0059 a0001c0001t0093 others(2): Show a0001c0001t0039 a0001c0001t0059 a0001c0001t0093 a0001c0002t0046 a0002c0003t0006	a0001c0001t0039g0052 a0001c0001t0059g0036 a0001c0001t0093g0094 others(2): Show a0001c0001t0039g0052 a0001c0001t0059g0036 a0001c0001t0093g0094 a0001c0002t0046g0081 a0002c0003t0006g0118	5	97	0.0515	9	c.916 others(28): Show c.916-88689_916-88681dupATTATTATT	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107340466	C C	CTTTCTTT others(2): Show CTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02135.hp1 HG02135.hp2 others(9): Show HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02451.hp2 HG03041.hp2 HG03516.hp2 NA18967.hp1 NA18969.hp2 NA18993.hp2 NA19002.hp2 NA19010.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0002 a0001c0001t0005 a0001c0001t0039 others(8): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0039 a0001c0001t0045 a0001c0001t0094 a0001c0002t0002 a0001c0002t0037 a0001c0002t0046 a0001c0002t0049 a0002c0003t0006 a0002c0003t0077	a0001c0001t0002g0058 a0001c0001t0005g0046 a0001c0001t0005g0060 others(9): Show a0001c0001t0002g0058 a0001c0001t0005g0046 a0001c0001t0005g0060 a0001c0001t0039g0052 a0001c0001t0045g0039 a0001c0001t0094g0091 a0001c0002t0002g0087 a0001c0002t0037g0073 a0001c0002t0046g0081 a0001c0002t0049g0074 a0002c0003t0006g0118 a0002c0003t0077g0125	12	102	0.1176	9	c.916 others(30): Show c.916-129712_916-129711insAGAAAGAAA	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107390877	T T	TTAATAAT others(2): Show TTAATAATAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01358.hp2 HG02809.hp1 others(5): Show HG00408.hp1 HG01358.hp2 HG02809.hp1 HG02895.hp1 HG03225.hp1 NA18995.hp2 NA19002.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0025 a0001c0001t0026 a0001c0001t0042 others(5): Show a0001c0001t0025 a0001c0001t0026 a0001c0001t0042 a0001c0001t0043 a0001c0001t0065 a0001c0002t0034 a0001c0002t0051 a0002c0003t0006	a0001c0001t0025g0005 a0001c0001t0026g0014 a0001c0001t0042g0044 others(5): Show a0001c0001t0025g0005 a0001c0001t0026g0014 a0001c0001t0042g0044 a0001c0001t0043g0054 a0001c0001t0065g0025 a0001c0002t0034g0022 a0001c0002t0051g0072 a0002c0003t0006g0121	8	75	0.1067	9	c.916 others(30): Show c.916-180131_916-180123dupTTATTATTA	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107438827	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02135.hp2 HG02155.hp1 others(3): Show HG00609.hp1 HG02135.hp2 HG02155.hp1 HG02486.hp1 HG02559.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0048 a0001c0001t0069 others(3): Show a0001c0001t0005 a0001c0001t0048 a0001c0001t0069 a0001c0001t0085 a0001c0002t0002 a0001c0002t0018	a0001c0001t0005g0046 a0001c0001t0048g0056 a0001c0001t0069g0031 others(3): Show a0001c0001t0005g0046 a0001c0001t0048g0056 a0001c0001t0069g0031 a0001c0001t0085g0101 a0001c0002t0002g0087 a0001c0002t0018g0001	6	30	0.2000	9	c.916 others(30): Show c.916-228081_916-228073dupTTTTTTTTT	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107650394	T T	TAAAAAAA others(2): Show TAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00609.hp2 HG01361.hp1 others(30): Show HG00408.hp1 HG00609.hp2 HG01361.hp1 HG01884.hp1 HG01943.hp1 HG02055.hp2 HG02056.hp2 HG02132.hp2 HG02280.hp1 HG02559.hp1 HG02622.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 NA18522.hp1 NA18747.hp2 NA18967.hp2 NA18969.hp2 NA18993.hp1 NA18995.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp2 NA19011.hp1 NA19066.hp1 NA19066.hp2 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0003c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(28): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0019 a0001c0001t0027 a0001c0001t0033 a0001c0001t0039 a0001c0001t0042 a0001c0001t0043 a0001c0001t0054 a0001c0001t0056 a0001c0001t0058 a0001c0001t0060 a0001c0001t0073 a0001c0001t0074 a0001c0001t0079 a0001c0001t0093 a0001c0001t0094 a0001c0002t0013 a0001c0002t0072 a0001c0005t0076 a0002c0003t0003 a0002c0003t0006 a0002c0003t0008 a0002c0003t0082 a0003c0004t0016	a0001c0001t0001g0037 a0001c0001t0004g0029 a0001c0001t0004g0055 others(30): Show a0001c0001t0001g0037 a0001c0001t0004g0029 a0001c0001t0004g0055 a0001c0001t0005g0059 a0001c0001t0005g0060 a0001c0001t0007g0103 a0001c0001t0008g0109 a0001c0001t0010g0032 a0001c0001t0011g0043 a0001c0001t0013g0068 a0001c0001t0019g0003 a0001c0001t0027g0004 a0001c0001t0033g0019 a0001c0001t0039g0052 a0001c0001t0042g0044 a0001c0001t0043g0054 a0001c0001t0054g0045 a0001c0001t0056g0062 a0001c0001t0058g0024 a0001c0001t0060g0064 a0001c0001t0073g0026 a0001c0001t0074g0088 a0001c0001t0079g0114 a0001c0001t0093g0094 a0001c0001t0094g0091 a0001c0002t0013g0082 a0001c0002t0072g0083 a0001c0005t0076g0106 a0002c0003t0003g0124 a0002c0003t0006g0121 a0002c0003t0008g0122 a0002c0003t0082g0119 a0003c0004t0016g0113	33	43	0.7674	9	c.915 others(30): Show c.915+215279_915+215287dupTTTTTTTTT	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107714626	T T	TAAAAAAA others(2): Show TAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp2 others(72): Show HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01884.hp1 HG01943.hp1 HG01943.hp2 HG01993.hp1 HG01993.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG03130.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG04115.hp2 HG04199.hp2 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18967.hp2 NA18969.hp2 NA18993.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19002.hp1 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19066.hp1 NA19066.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0002c0003 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(58): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0042 a0001c0001t0043 a0001c0001t0045 a0001c0001t0048 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0061 a0001c0001t0068 a0001c0001t0069 a0001c0001t0073 a0001c0001t0074 a0001c0001t0083 a0001c0001t0085 a0001c0001t0091 a0001c0001t0095 a0001c0001t0096 a0001c0002t0002 a0001c0002t0014 a0001c0002t0017 a0001c0002t0018 a0001c0002t0035 a0001c0002t0037 a0001c0002t0038 a0001c0002t0044 a0001c0002t0049 a0001c0002t0050 a0001c0002t0051 a0001c0005t0076 a0001c0006t0021 a0002c0003t0003 a0002c0003t0006 a0002c0003t0007 a0002c0003t0008 a0002c0003t0077 a0002c0003t0082 a0002c0003t0089 a0003c0004t0016	a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0061 others(72): Show a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0002g0047 a0001c0001t0002g0053 a0001c0001t0003g0100 a0001c0001t0003g0104 a0001c0001t0003g0108 a0001c0001t0004g0033 a0001c0001t0004g0055 a0001c0001t0005g0046 a0001c0001t0005g0059 a0001c0001t0005g0060 a0001c0001t0006g0112 a0001c0001t0007g0102 a0001c0001t0007g0103 a0001c0001t0008g0109 a0001c0001t0009g0007 a0001c0001t0009g0012 a0001c0001t0010g0032 a0001c0001t0011g0057 a0001c0001t0014g0049 a0001c0001t0015g0095 a0001c0001t0019g0003 a0001c0001t0022g0011 a0001c0001t0023g0008 a0001c0001t0024g0013 a0001c0001t0025g0005 a0001c0001t0026g0014 a0001c0001t0028g0010 a0001c0001t0030g0018 a0001c0001t0032g0016 a0001c0001t0033g0019 a0001c0001t0042g0044 a0001c0001t0043g0054 a0001c0001t0045g0039 a0001c0001t0048g0056 a0001c0001t0054g0045 a0001c0001t0055g0067 a0001c0001t0056g0062 a0001c0001t0061g0040 a0001c0001t0068g0030 a0001c0001t0069g0031 a0001c0001t0073g0026 a0001c0001t0074g0088 a0001c0001t0083g0116 a0001c0001t0085g0101 a0001c0001t0091g0115 a0001c0001t0095g0127 a0001c0001t0096g0128 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0014g0076 a0001c0002t0017g0002 a0001c0002t0018g0001 a0001c0002t0035g0020 a0001c0002t0037g0073 a0001c0002t0038g0071 a0001c0002t0044g0079 a0001c0002t0049g0074 a0001c0002t0050g0080 a0001c0002t0051g0072 a0001c0005t0076g0106 a0001c0006t0021g0009 a0002c0003t0003g0123 a0002c0003t0003g0124 a0002c0003t0006g0121 a0002c0003t0007g0126 a0002c0003t0008g0122 a0002c0003t0077g0125 a0002c0003t0082g0119 a0002c0003t0089g0120 a0003c0004t0016g0111 a0003c0004t0016g0113	75	107	0.7009	9	c.915 others(30): Show c.915+151047_915+151055dupTTTTTTTTT	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107714626	T T	TTAAAAAA others(2): Show TTAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02723.hp2 HG02976.hp1 HG00642.hp2 HG02723.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0071 a0001c0001t0084 a0001c0001t0070 a0001c0001t0071 a0001c0001t0084	a0001c0001t0070g0048 a0001c0001t0071g0051 a0001c0001t0084g0110 a0001c0001t0070g0048 a0001c0001t0071g0051 a0001c0001t0084g0110	3	35	0.0857	9	c.915 others(30): Show c.915+151055_915+151056insTTTTTTTTA	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107813880	C C	CTGTTGTT others(2): Show CTGTTGTTAT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02622.hp1 HG02647.hp2 others(5): Show HG01993.hp1 HG02622.hp1 HG02647.hp2 HG02723.hp1 HG03041.hp1 HG03130.hp2 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0010 a0001c0001t0014 others(5): Show a0001c0001t0003 a0001c0001t0010 a0001c0001t0014 a0001c0001t0069 a0001c0001t0075 a0001c0001t0092 a0001c0002t0004 a0001c0002t0013	a0001c0001t0003g0100 a0001c0001t0010g0032 a0001c0001t0014g0049 others(5): Show a0001c0001t0003g0100 a0001c0001t0010g0032 a0001c0001t0014g0049 a0001c0001t0069g0031 a0001c0001t0075g0096 a0001c0001t0092g0107 a0001c0002t0004g0070 a0001c0002t0013g0082	8	128	0.0625	9	c.915 others(28): Show c.915+51793_915+51801dupATAACAACA	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107823977	G G	GTTATTAT others(2): Show GTTATTATTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00408.hp2 others(18): Show HG00099.hp2 HG00408.hp1 HG00408.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG01081.hp2 HG01361.hp2 HG01433.hp1 HG01993.hp1 HG02055.hp2 HG02056.hp1 HG02132.hp2 HG02486.hp1 HG03491.hp1 HG04115.hp2 HG04199.hp2 NA18969.hp1 NA18998.hp1 NA19066.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0012 a0001c0001t0015 a0001c0001t0043 a0001c0001t0048 a0001c0001t0066 a0001c0001t0073 a0001c0001t0080 a0001c0001t0081 a0001c0001t0085 a0001c0001t0095 a0001c0001t0096 a0001c0002t0002 a0002c0003t0007 a0002c0003t0008	a0001c0001t0001g0037 a0001c0001t0001g0061 a0001c0001t0003g0100 others(18): Show a0001c0001t0001g0037 a0001c0001t0001g0061 a0001c0001t0003g0100 a0001c0001t0004g0055 a0001c0001t0007g0102 a0001c0001t0007g0103 a0001c0001t0012g0023 a0001c0001t0015g0095 a0001c0001t0015g0099 a0001c0001t0043g0054 a0001c0001t0048g0056 a0001c0001t0066g0028 a0001c0001t0073g0026 a0001c0001t0080g0097 a0001c0001t0081g0098 a0001c0001t0085g0101 a0001c0001t0095g0127 a0001c0001t0096g0128 a0001c0002t0002g0086 a0002c0003t0007g0126 a0002c0003t0008g0122	21	98	0.2143	9	c.915 others(28): Show c.915+41696_915+41704dupTAATAATAA	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NAMPT_chr7_106243298_106289983	106267840	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp2 HG02735.hp2 others(3): Show HG01109.hp1 HG01109.hp2 HG02735.hp2 HG03491.hp2 NA18961.hp1 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 others(3): Show a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0136 a0001c0002t0002g0217	6	38	0.1579	9	c.743 others(24): Show c.743+615_743+623dupTTTTTTTTT	NAMPT	ENSG00000105835.13	transcript	ENST00000222553.8	protein_coding	6/10			chr7	TogoVar
NANS_chr9_98051732_98088077	98065483	A A	ATTTTTTT others(2): Show ATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01069.hp2 HG01070.hp1 others(3): Show HG00099.hp1 HG01069.hp2 HG01070.hp1 HG01433.hp1 HG02300.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0001 a0001c0004t0002 a0001c0001t0002 a0001c0004t0001 a0001c0004t0002	a0001c0001t0002g0160 a0001c0004t0001g0013 a0001c0004t0002g0020 a0001c0001t0002g0160 a0001c0004t0001g0013 a0001c0004t0002g0020	6	100	0.0600	9	c.348 others(26): Show c.348+4505_348+4513dupTTTTTTTTT	NANS	ENSG00000095380.11	transcript	ENST00000210444.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
NAP1L4_chr11_2939437_2997329	2981418	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00735.hp1 HG01123.hp1 others(10): Show HG00621.hp1 HG00735.hp1 HG01123.hp1 HG01517.hp2 HG02602.hp1 HG03688.hp1 HG03688.hp2 NA18951.hp2 NA18966.hp2 NA18974.hp2 NA18981.hp2 NA19065.hp1 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0043 a0001c0001t0002g0042 a0001c0001t0002g0071 others(10): Show a0001c0001t0001g0043 a0001c0001t0002g0042 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0087 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0101	13	134	0.0970	9	c.-17 others(26): Show c.-17-2190_-17-2182dupTTTTTTTTT	NAP1L4	ENSG00000205531.14	transcript	ENST00000380542.9	protein_coding	1/15			chr11	TogoVar
NAP1L5_chr4_88690913_88702829	88699191	C C	CACCCACC others(2): Show CACCCACCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02486.hp2 HG02572.hp2 others(5): Show HG01884.hp2 HG02486.hp2 HG02572.hp2 HG03486.hp1 HG03516.hp1 NA18906.hp2 NA19030.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0001g0000 a0001c0001t0002g0000	8	399	0.0201	9	c.-14 others(20): Show c.-1438_-1437insTGGGTGGGT	NAP1L5	ENSG00000177432.8	transcript	ENST00000323061.7	protein_coding		1363		chr4	TogoVar
NAP1L5_chr4_88690913_88702829	88699215	C C	CACCCACC others(2): Show CACCCACCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG01123.hp2 HG02145.hp2 others(3): Show HG00140.hp1 HG01123.hp2 HG02145.hp2 HG02280.hp2 HG02615.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0000 a0001c0001t0004g0000 a0001c0001t0002g0000 a0001c0001t0004g0000	6	386	0.0155	9	c.-14 others(20): Show c.-1462_-1461insTGGGTGGGT	NAP1L5	ENSG00000177432.8	transcript	ENST00000323061.7	protein_coding		1387		chr4	TogoVar
NAPRT_chr8_143569785_143583330	143570223	C C	CCCCTCCT others(2): Show CCCCTCCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00323.hp2 others(54): Show HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00597.hp1 HG00673.hp1 HG01070.hp1 HG01071.hp2 HG01106.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01258.hp1 HG01496.hp1 HG01884.hp2 HG02040.hp2 HG02155.hp1 HG02280.hp1 HG02300.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02717.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02965.hp1 HG02965.hp2 HG03098.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp2 HG03942.hp1 NA18522.hp1 NA18940.hp2 NA18951.hp1 NA18967.hp1 NA18970.hp2 NA18985.hp1 NA19002.hp2 NA19011.hp1 NA19043.hp1 NA19063.hp2 NA19085.hp1 NA19088.hp2 NA20129.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0016 a0001c0022 a0002c0005 a0004c0013 a0005c0009 a0006c0021	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(10): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0003t0003 a0001c0004t0001 a0001c0004t0002 a0001c0006t0001 a0001c0016t0001 a0001c0022t0001 a0002c0005t0001 a0004c0013t0001 a0005c0009t0001 a0006c0021t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0011 others(19): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0036 a0001c0002t0001g0001 a0001c0002t0001g0008 a0001c0002t0001g0049 a0001c0003t0001g0003 a0001c0003t0001g0009 a0001c0003t0003g0059 a0001c0004t0001g0004 a0001c0004t0001g0056 a0001c0004t0002g0021 a0001c0006t0001g0014 a0001c0016t0001g0044 a0001c0022t0001g0051 a0002c0005t0001g0010 a0004c0013t0001g0030 a0005c0009t0001g0017 a0006c0021t0001g0047	57	402	0.1418	9	c.46 others(20): Show c.4606_*4614dupTGAGGAGGG	NAPRT	ENSG00000147813.16	transcript	ENST00000449291.7	protein_coding		4561		chr8	TogoVar
NAPRT_chr8_143569785_143583330	143570425	G G	GGCAGTGG others(2): Show GGCAGTGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00639.hp1 HG00741.hp2 others(51): Show HG00438.hp1 HG00639.hp1 HG00741.hp2 HG01069.hp2 HG01123.hp1 HG01175.hp2 HG01256.hp2 HG01258.hp1 HG01361.hp1 HG01943.hp1 HG01993.hp1 HG02040.hp2 HG02055.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02602.hp2 HG02698.hp2 HG02717.hp1 HG02970.hp1 HG03139.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 NA18940.hp1 NA18956.hp2 NA18966.hp1 NA18983.hp1 NA18987.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA18997.hp2 NA18998.hp2 NA19002.hp1 NA19004.hp1 NA19054.hp2 NA19060.hp2 NA19064.hp1 NA19066.hp2 NA19068.hp1 NA19080.hp2 NA19083.hp1 NA19084.hp2 NA19088.hp1 NA19090.hp1 NA19091.hp2 NA20805.hp2 NA20905.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0011 a0001c0012 a0012c0023	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0011t0001 a0001c0012t0001 a0012c0023t0001	a0001c0001t0001g0002 a0001c0002t0001g0001 a0001c0002t0001g0024 others(8): Show a0001c0001t0001g0002 a0001c0002t0001g0001 a0001c0002t0001g0024 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0003t0001g0003 a0001c0003t0001g0027 a0001c0004t0001g0004 a0001c0011t0001g0028 a0001c0012t0001g0029 a0012c0023t0001g0055	54	402	0.1343	9	c.44 others(20): Show c.4412_*4413insTCCCACTGC	NAPRT	ENSG00000147813.16	transcript	ENST00000449291.7	protein_coding		4359		chr8	TogoVar
NAPSA_chr19_50353477_50370639	50369558	G G	GTTTTTTT others(2): Show GTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp2 HG02896.hp1 HG02897.hp2 others(5): Show HG01517.hp2 HG02896.hp1 HG02897.hp2 NA18952.hp2 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19086.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0001 a0004c0004t0001g0009 a0001c0001t0001g0001 a0004c0004t0001g0009	8	17	0.4706	9	c.-39 others(20): Show c.-3946_-3938dupAAAAAAAAA	NAPSA	ENSG00000131400.9	transcript	ENST00000253719.7	protein_coding		3920		chr19	TogoVar
NARF_chr17_82453741_82495537	82471791	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00639.hp1 HG01069.hp2 others(59): Show HG00621.hp1 HG00639.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01106.hp1 HG01109.hp2 HG01175.hp2 HG01257.hp2 HG01258.hp1 HG01433.hp1 HG01884.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01993.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02074.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02148.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02683.hp2 HG02723.hp1 HG02738.hp2 HG03225.hp2 HG03239.hp2 HG03516.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp2 NA18942.hp1 NA18947.hp1 NA18950.hp1 NA18961.hp1 NA18973.hp2 NA18979.hp1 NA19003.hp1 NA19004.hp1 NA19011.hp2 NA19012.hp1 NA19054.hp2 NA19060.hp1 NA19063.hp1 NA19065.hp1 NA19070.hp2 NA19077.hp2 NA19081.hp2 NA19082.hp2 NA19086.hp1 NA19090.hp2 NA20300.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0007 a0001c0001 a0001c0002 a0006c0007	a0001c0001t0001 a0001c0001t0005 a0001c0001t0014 others(6): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0014 a0001c0002t0003 a0001c0002t0004 a0001c0002t0018 a0001c0002t0022 a0001c0002t0023 a0006c0007t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(39): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0157 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0005g0004 a0001c0001t0014g0006 a0001c0002t0003g0232 a0001c0002t0003g0233 a0001c0002t0004g0023 a0001c0002t0004g0024 a0001c0002t0004g0132 a0001c0002t0004g0136 a0001c0002t0004g0138 a0001c0002t0004g0146 a0001c0002t0018g0236 a0001c0002t0022g0023 a0001c0002t0023g0147 a0006c0007t0001g0006	62	175	0.3543	9	c.386 others(24): Show c.386-765_386-757dupAAAAAAAAA	NARF	ENSG00000141562.19	transcript	ENST00000309794.16	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
NARS2_chr11_78430968_78579864	78435513	C C	CTTTTTTT others(2): Show CTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02630.hp1 HG02647.hp2 others(3): Show HG02451.hp1 HG02630.hp1 HG02647.hp2 HG02809.hp1 HG02895.hp2 HG02965.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0006 a0002c0002t0008 a0001c0003t0006 a0002c0002t0008	a0001c0003t0006g0260 a0001c0003t0006g0261 a0001c0003t0006g0264 others(3): Show a0001c0003t0006g0260 a0001c0003t0006g0261 a0001c0003t0006g0264 a0001c0003t0006g0265 a0002c0002t0008g0290 a0002c0002t0008g0291	6	126	0.0476	9	c.11 others(20): Show c.1156_*1157insAAAAAAAAA	NARS2	ENSG00000137513.11	transcript	ENST00000281038.10	protein_coding		454		chr11	TogoVar
NARS2_chr11_78430968_78579864	78444727	C C	CAAAGAAA others(2): Show CAAAGAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00597.hp1 others(81): Show HG00099.hp2 HG00408.hp2 HG00597.hp1 HG00642.hp2 HG00735.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01175.hp1 HG01192.hp2 HG01256.hp2 HG01261.hp1 HG01346.hp2 HG01928.hp2 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02055.hp1 HG02083.hp2 HG02109.hp2 HG02135.hp1 HG02148.hp1 HG02155.hp2 HG02273.hp1 HG02300.hp1 HG02559.hp1 HG02572.hp2 HG02622.hp2 HG02738.hp1 HG02976.hp1 HG03139.hp1 HG03225.hp2 HG03492.hp1 HG04184.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18939.hp2 NA18941.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18953.hp2 NA18955.hp1 NA18957.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp2 NA18967.hp2 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18980.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18987.hp1 NA18993.hp2 NA18998.hp1 NA18999.hp1 NA19003.hp1 NA19056.hp1 NA19057.hp2 NA19060.hp1 NA19062.hp2 NA19065.hp2 NA19066.hp2 NA19074.hp1 NA19078.hp2 NA19081.hp1 NA19084.hp1 NA19085.hp2 NA19087.hp2 NA19089.hp1 NA19090.hp2 NA20300.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0004c0009	a0001c0001t0005 a0001c0003t0002 a0002c0002t0002 others(3): Show a0001c0001t0005 a0001c0003t0002 a0002c0002t0002 a0002c0002t0005 a0002c0002t0016 a0004c0009t0002	a0001c0001t0005g0070 a0001c0001t0005g0121 a0001c0001t0005g0124 others(81): Show a0001c0001t0005g0070 a0001c0001t0005g0121 a0001c0001t0005g0124 a0001c0001t0005g0134 a0001c0001t0005g0136 a0001c0003t0002g0257 a0001c0003t0002g0258 a0002c0002t0002g0162 a0002c0002t0002g0163 a0002c0002t0002g0164 a0002c0002t0002g0166 a0002c0002t0002g0171 a0002c0002t0002g0176 a0002c0002t0002g0177 a0002c0002t0002g0178 a0002c0002t0002g0179 a0002c0002t0002g0180 a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0002t0002g0185 a0002c0002t0002g0186 a0002c0002t0002g0187 a0002c0002t0002g0188 a0002c0002t0002g0190 a0002c0002t0002g0191 a0002c0002t0002g0192 a0002c0002t0002g0193 a0002c0002t0002g0194 a0002c0002t0002g0195 a0002c0002t0002g0197 a0002c0002t0002g0198 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0201 a0002c0002t0002g0202 a0002c0002t0002g0204 a0002c0002t0002g0205 a0002c0002t0002g0206 a0002c0002t0002g0207 a0002c0002t0002g0208 a0002c0002t0002g0209 a0002c0002t0002g0210 a0002c0002t0002g0211 a0002c0002t0002g0212 a0002c0002t0002g0213 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0221 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0228 a0002c0002t0002g0229 a0002c0002t0002g0230 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0246 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0249 a0002c0002t0002g0250 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0255 a0002c0002t0002g0267 a0002c0002t0002g0269 a0002c0002t0002g0270 a0002c0002t0002g0277 a0002c0002t0002g0278 a0002c0002t0005g0001 a0002c0002t0016g0294 a0004c0009t0002g0160	84	265	0.3170	9	c.116 others(26): Show c.1165-970_1165-969insTTTTTCTTT	NARS2	ENSG00000137513.11	transcript	ENST00000281038.10	protein_coding	11/13			chr11	TogoVar
NARS2_chr11_78430968_78579864	78468310	G G	GGAAAAAA others(2): Show GGAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01192.hp2 HG02738.hp1 others(8): Show HG00735.hp2 HG01192.hp2 HG02738.hp1 NA18950.hp2 NA18967.hp2 NA18993.hp2 NA18998.hp1 NA19000.hp2 NA19062.hp2 NA19078.hp2 NA19089.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0002 a0001c0001t0005 a0002c0002t0002	a0001c0001t0005g0121 a0001c0001t0005g0124 a0002c0002t0002g0176 others(8): Show a0001c0001t0005g0121 a0001c0001t0005g0124 a0002c0002t0002g0176 a0002c0002t0002g0184 a0002c0002t0002g0207 a0002c0002t0002g0209 a0002c0002t0002g0221 a0002c0002t0002g0226 a0002c0002t0002g0248 a0002c0002t0002g0252 a0002c0002t0002g0267	11	155	0.0710	9	c.102 others(26): Show c.1026+936_1026+937insTTTTTTTTC	NARS2	ENSG00000137513.11	transcript	ENST00000281038.10	protein_coding	10/13			chr11	TogoVar
NARS2_chr11_78430968_78579864	78502991	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02451.hp1 HG02622.hp1 others(8): Show HG02109.hp1 HG02451.hp1 HG02622.hp1 HG02630.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp2 HG03139.hp2 HG03225.hp1 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0004 a0002c0002 a0001c0003 a0001c0004 a0002c0002	a0001c0003t0003 a0001c0003t0004 a0001c0003t0006 others(2): Show a0001c0003t0003 a0001c0003t0004 a0001c0003t0006 a0001c0004t0013 a0002c0002t0008	a0001c0003t0003g0167 a0001c0003t0003g0168 a0001c0003t0004g0275 others(8): Show a0001c0003t0003g0167 a0001c0003t0003g0168 a0001c0003t0004g0275 a0001c0003t0006g0261 a0001c0003t0006g0262 a0001c0003t0006g0263 a0001c0003t0006g0264 a0001c0003t0006g0265 a0001c0004t0013g0153 a0002c0002t0008g0291 a0002c0002t0008g0292	11	126	0.0873	9	c.690 others(26): Show c.690-9805_690-9797dupTTTTTTTTT	NARS2	ENSG00000137513.11	transcript	ENST00000281038.10	protein_coding	6/13			chr11	TogoVar
NARS2_chr11_78430968_78579864	78563885	G G	GTATTATT others(2): Show GTATTATTAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02818.hp1 HG04184.hp1 others(1): Show HG02615.hp2 HG02818.hp1 HG04184.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0011 a0002c0002 a0001c0011 a0002c0002	a0001c0011t0003 a0002c0002t0002 a0002c0002t0003 a0001c0011t0003 a0002c0002t0002 a0002c0002t0003	a0001c0011t0003g0271 a0002c0002t0002g0246 a0002c0002t0003g0288 others(1): Show a0001c0011t0003g0271 a0002c0002t0002g0246 a0002c0002t0003g0288 a0002c0002t0003g0289	4	232	0.0172	9	c.513 others(26): Show c.513+2238_513+2246dupATAATAATA	NARS2	ENSG00000137513.11	transcript	ENST00000281038.10	protein_coding	4/13			chr11	TogoVar
NASP_chr1_45579041_45623893	45586284	G G	GTGTGTGT others(2): Show GTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02055.hp1 HG02717.hp1 HG00609.hp2 HG02055.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0088 a0001c0001t0001g0100 a0001c0001t0003g0092 a0001c0001t0001g0088 a0001c0001t0001g0100 a0001c0001t0003g0092	3	236	0.0127	9	c.59+ others(24): Show c.59+2079_59+2080insTGTGTGTGT	NASP	ENSG00000132780.17	transcript	ENST00000350030.8	protein_coding	1/14			chr1	TogoVar
NAT16_chr7_101165496_101185293	101178889	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01070.hp2 HG01074.hp2 others(13): Show HG00733.hp2 HG01070.hp2 HG01074.hp2 HG01099.hp2 HG01168.hp1 HG01168.hp2 HG01243.hp1 HG01256.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01943.hp1 HG02040.hp1 NA18973.hp2 NA19043.hp2 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0004 a0001c0001 a0001c0003 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0003c0004t0014	a0001c0001t0001g0025 a0001c0001t0001g0042 a0001c0001t0001g0080 others(7): Show a0001c0001t0001g0025 a0001c0001t0001g0042 a0001c0001t0001g0080 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0003g0141 a0001c0003t0001g0016 a0001c0003t0001g0110 a0001c0003t0001g0111 a0003c0004t0014g0174	16	115	0.1391	9	c.-5+ others(24): Show c.-5+1144_-5+1152dupTTTTTTTTT	NAT16	ENSG00000167011.9	transcript	ENST00000300303.7	protein_coding	1/3			chr7	TogoVar
NAV1_chr1_201534127_201831969	201734499	G G	GAGAAGAA others(2): Show GAGAAGAAGA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01993.hp2 HG02071.hp1 others(14): Show HG00735.hp2 HG01993.hp2 HG02071.hp1 HG02559.hp2 HG02572.hp1 HG02886.hp1 HG02896.hp1 HG02922.hp1 HG02970.hp1 HG03453.hp2 NA18522.hp2 NA18947.hp2 NA18960.hp2 NA19000.hp1 NA19005.hp1 NA19085.hp2 NA19091.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0013	a0001c0001 a0001c0006 a0002c0002 others(4): Show a0001c0001 a0001c0006 a0002c0002 a0003c0004 a0003c0020 a0004c0003 a0013c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0024 a0001c0001t0030 a0001c0001t0081 a0001c0006t0021 a0002c0002t0012 a0003c0004t0040 a0003c0004t0058 a0003c0020t0006 a0004c0003t0009 a0013c0028t0016	a0001c0001t0001g0140 a0001c0001t0002g0050 a0001c0001t0002g0051 others(14): Show a0001c0001t0001g0140 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0138 a0001c0001t0012g0031 a0001c0001t0024g0097 a0001c0001t0030g0184 a0001c0001t0081g0156 a0001c0006t0021g0135 a0001c0006t0021g0210 a0002c0002t0012g0036 a0003c0004t0040g0079 a0003c0004t0058g0167 a0003c0020t0006g0161 a0004c0003t0009g0015 a0004c0003t0009g0189 a0013c0028t0016g0208	17	32	0.5313	9	c.208 others(30): Show c.2087+15769_2087+15777dupAGAAGAAGA	NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	7/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV1_chr1_201534127_201831969	201768333	G G	GAAAAAAA others(2): Show GAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02976.hp2 HG03579.hp1 others(3): Show HG02809.hp1 HG02976.hp2 HG03579.hp1 NA19030.hp2 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0007 a0001c0001t0016 a0001c0001t0044 others(2): Show a0001c0001t0007 a0001c0001t0016 a0001c0001t0044 a0001c0001t0045 a0001c0015t0022	a0001c0001t0007g0071 a0001c0001t0016g0081 a0001c0001t0044g0128 others(3): Show a0001c0001t0007g0071 a0001c0001t0016g0081 a0001c0001t0044g0128 a0001c0001t0045g0201 a0001c0015t0022g0192 a0001c0015t0022g0193	6	108	0.0556	9	c.208 others(30): Show c.2088-12080_2088-12072dupAAAAAAAAA	NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	7/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV2_chr11_19707837_20126601	19931609	A A	AAAAAAAA others(2): Show AAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01515.hp1 HG02280.hp2 others(10): Show HG01069.hp2 HG01515.hp1 HG02280.hp2 HG02486.hp2 HG02572.hp1 HG02622.hp2 HG02976.hp2 HG03139.hp1 HG03209.hp1 HG06807.hp2 NA18942.hp1 NA19043.hp1 NA20300.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0007	a0001c0003 a0001c0019 a0001c0048 others(10): Show a0001c0003 a0001c0019 a0001c0048 a0001c0049 a0002c0014 a0002c0100 a0002c0120 a0002c0124 a0002c0129 a0003c0135 a0004c0040 a0005c0051 a0007c0111	a0001c0003t0026 a0001c0019t0049 a0001c0048t0036 others(10): Show a0001c0003t0026 a0001c0019t0049 a0001c0048t0036 a0001c0049t0011 a0002c0014t0001 a0002c0100t0002 a0002c0120t0015 a0002c0124t0003 a0002c0129t0004 a0003c0135t0039 a0004c0040t0011 a0005c0051t0010 a0007c0111t0001	a0001c0003t0026g0157 a0001c0019t0049g0142 a0001c0048t0036g0149 others(10): Show a0001c0003t0026g0157 a0001c0019t0049g0142 a0001c0048t0036g0149 a0001c0049t0011g0008 a0002c0014t0001g0062 a0002c0100t0002g0052 a0002c0120t0015g0156 a0002c0124t0003g0091 a0002c0129t0004g0030 a0003c0135t0039g0137 a0004c0040t0011g0162 a0005c0051t0010g0066 a0007c0111t0001g0074	13	100	0.1300	9	c.932 others(26): Show c.932-1567_932-1566insAAAAAAAAG	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	6/37			chr11	TogoVar
NAV2_chr11_19707837_20126601	19935851	G G	GTTTTTTT others(2): Show GTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00639.hp1 HG01109.hp1 others(10): Show HG00438.hp2 HG00639.hp1 HG01109.hp1 HG01261.hp2 HG02027.hp1 HG02083.hp2 HG02572.hp1 NA18942.hp1 NA18947.hp2 NA18979.hp1 NA18991.hp1 NA20300.hp2 NA20752.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0021 a0023	a0001c0019 a0001c0032 a0002c0004 others(10): Show a0001c0019 a0001c0032 a0002c0004 a0002c0011 a0002c0098 a0002c0100 a0002c0101 a0002c0129 a0003c0103 a0005c0061 a0005c0083 a0021c0025 a0023c0108	a0001c0019t0049 a0001c0032t0001 a0002c0004t0001 others(10): Show a0001c0019t0049 a0001c0032t0001 a0002c0004t0001 a0002c0011t0006 a0002c0098t0003 a0002c0100t0002 a0002c0101t0006 a0002c0129t0004 a0003c0103t0001 a0005c0061t0002 a0005c0083t0002 a0021c0025t0002 a0023c0108t0001	a0001c0019t0049g0142 a0001c0032t0001g0078 a0002c0004t0001g0040 others(10): Show a0001c0019t0049g0142 a0001c0032t0001g0078 a0002c0004t0001g0040 a0002c0011t0006g0096 a0002c0098t0003g0032 a0002c0100t0002g0052 a0002c0101t0006g0025 a0002c0129t0004g0030 a0003c0103t0001g0007 a0005c0061t0002g0048 a0005c0083t0002g0057 a0021c0025t0002g0115 a0023c0108t0001g0044	13	81	0.1605	9	c.203 others(28): Show c.2033+1590_2033+1598dupTTTTTTTTT	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	7/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV2_chr11_19707837_20126601	19945115	C C	CCTCTTTC others(2): Show CCTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01168.hp2 HG01169.hp2 others(9): Show HG00280.hp1 HG01168.hp2 HG01169.hp2 HG01256.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG02083.hp1 HG02559.hp1 HG03942.hp2 HG04228.hp1 NA18951.hp2	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0007 a0009 a0010 a0022	a0001c0031 a0002c0004 a0002c0013 others(8): Show a0001c0031 a0002c0004 a0002c0013 a0002c0091 a0002c0093 a0005c0143 a0007c0111 a0007c0112 a0009c0109 a0010c0094 a0022c0038	a0001c0031t0001 a0002c0004t0001 a0002c0013t0001 others(8): Show a0001c0031t0001 a0002c0004t0001 a0002c0013t0001 a0002c0091t0004 a0002c0093t0001 a0005c0143t0019 a0007c0111t0001 a0007c0112t0006 a0009c0109t0004 a0010c0094t0001 a0022c0038t0002	a0001c0031t0001g0082 a0002c0004t0001g0100 a0002c0013t0001g0144 others(9): Show a0001c0031t0001g0082 a0002c0004t0001g0100 a0002c0013t0001g0144 a0002c0013t0001g0145 a0002c0091t0004g0029 a0002c0093t0001g0111 a0005c0143t0019g0114 a0007c0111t0001g0074 a0007c0112t0006g0071 a0009c0109t0004g0039 a0010c0094t0001g0110 a0022c0038t0002g0054	12	125	0.0960	9	c.214 others(28): Show c.2147-1286_2147-1285insCTCTTTCTT	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	8/37			chr11	TogoVar
NAV2_chr11_19707837_20126601	19982259	T T	TTTTGTTT others(2): Show TTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00673.hp2 HG01069.hp2 others(9): Show HG00140.hp2 HG00673.hp2 HG01069.hp2 HG01515.hp2 HG02258.hp1 HG02486.hp2 HG02622.hp1 HG02630.hp2 HG03942.hp1 HG04115.hp2 NA18947.hp1 NA19043.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0020	a0001c0031 a0001c0044 a0002c0002 others(9): Show a0001c0031 a0001c0044 a0002c0002 a0002c0014 a0002c0102 a0002c0131 a0002c0139 a0003c0106 a0004c0005 a0004c0040 a0006c0142 a0020c0089	a0001c0031t0001 a0001c0044t0003 a0002c0002t0001 others(9): Show a0001c0031t0001 a0001c0044t0003 a0002c0002t0001 a0002c0014t0001 a0002c0102t0014 a0002c0131t0005 a0002c0139t0012 a0003c0106t0001 a0004c0005t0005 a0004c0040t0011 a0006c0142t0002 a0020c0089t0043	a0001c0031t0001g0082 a0001c0044t0003g0005 a0002c0002t0001g0059 others(9): Show a0001c0031t0001g0082 a0001c0044t0003g0005 a0002c0002t0001g0059 a0002c0014t0001g0062 a0002c0102t0014g0064 a0002c0131t0005g0086 a0002c0139t0012g0085 a0003c0106t0001g0143 a0004c0005t0005g0128 a0004c0040t0011g0162 a0006c0142t0002g0107 a0020c0089t0043g0020	12	83	0.1446	9	c.264 others(28): Show c.2646-1863_2646-1862insGTTTTGTTT	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	10/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NBAS_chr2_15161916_15566334	15459503	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00639.hp2 others(89): Show HG00280.hp2 HG00323.hp2 HG00639.hp2 HG00733.hp1 HG01070.hp2 HG01071.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01261.hp1 HG01358.hp2 HG01496.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02055.hp1 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02293.hp2 HG02451.hp1 HG02523.hp1 HG02559.hp2 HG02602.hp1 HG02647.hp2 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03195.hp2 HG03486.hp1 HG03491.hp1 HG03579.hp1 HG03669.hp1 HG03704.hp1 HG03834.hp1 NA18522.hp2 NA18612.hp2 NA18939.hp1 NA18943.hp1 NA18948.hp2 NA18966.hp1 NA18968.hp2 NA18973.hp2 NA18974.hp1 NA18977.hp1 NA18980.hp2 NA18984.hp1 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18999.hp1 NA19005.hp1 NA19030.hp2 NA19043.hp2 NA19060.hp2 NA19064.hp2 NA19072.hp2 NA19077.hp2 NA19080.hp1 NA19081.hp2 NA19085.hp2 NA19086.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp2 NA21309.hp2	a0001 a0002 a0003 others(19): Show a0001 a0002 a0003 a0010 a0011 a0012 a0013 a0014 a0015 a0017 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0032 a0033 a0035 a0036	a0001c0003 a0002c0002 a0002c0009 others(21): Show a0001c0003 a0002c0002 a0002c0009 a0003c0011 a0010c0013 a0011c0016 a0012c0012 a0013c0015 a0014c0028 a0015c0045 a0015c0047 a0017c0046 a0022c0042 a0023c0049 a0024c0026 a0025c0029 a0026c0018 a0027c0031 a0028c0024 a0029c0041 a0032c0025 a0033c0044 a0035c0043 a0036c0048	a0001c0003t0001 a0002c0002t0001 a0002c0009t0001 others(21): Show a0001c0003t0001 a0002c0002t0001 a0002c0009t0001 a0003c0011t0001 a0010c0013t0001 a0011c0016t0001 a0012c0012t0001 a0013c0015t0001 a0014c0028t0001 a0015c0045t0001 a0015c0047t0001 a0017c0046t0001 a0022c0042t0001 a0023c0049t0001 a0024c0026t0001 a0025c0029t0001 a0026c0018t0001 a0027c0031t0001 a0028c0024t0001 a0029c0041t0001 a0032c0025t0001 a0033c0044t0001 a0035c0043t0001 a0036c0048t0001	a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0014 others(89): Show a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0014 a0001c0003t0001g0015 a0001c0003t0001g0019 a0001c0003t0001g0020 a0001c0003t0001g0023 a0001c0003t0001g0024 a0001c0003t0001g0025 a0001c0003t0001g0030 a0001c0003t0001g0033 a0001c0003t0001g0039 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0158 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0189 a0002c0002t0001g0192 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0219 a0002c0009t0001g0160 a0002c0009t0001g0165 a0002c0009t0001g0191 a0003c0011t0001g0022 a0003c0011t0001g0034 a0010c0013t0001g0131 a0011c0016t0001g0177 a0011c0016t0001g0201 a0012c0012t0001g0032 a0012c0012t0001g0143 a0013c0015t0001g0002 a0014c0028t0001g0010 a0015c0045t0001g0183 a0015c0047t0001g0200 a0017c0046t0001g0188 a0022c0042t0001g0176 a0023c0049t0001g0148 a0024c0026t0001g0021 a0025c0029t0001g0031 a0026c0018t0001g0153 a0027c0031t0001g0029 a0028c0024t0001g0028 a0029c0041t0001g0027 a0032c0025t0001g0003 a0033c0044t0001g0159 a0035c0043t0001g0221 a0036c0048t0001g0194	92	191	0.4817	9	c.233 others(28): Show c.2339+1689_2339+1697dupAAAAAAAAA	NBAS	ENSG00000151779.14	transcript	ENST00000281513.10	protein_coding	21/51			chr2	TogoVar
NBAS_chr2_15161916_15566334	15474549	T T	TTTCTTCT others(2): Show TTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02723.hp2 others(5): Show HG01884.hp2 HG02055.hp1 HG02723.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2	a0001 a0006 a0013 a0001 a0006 a0013	a0001c0003 a0006c0008 a0013c0015 a0001c0003 a0006c0008 a0013c0015	a0001c0003t0001 a0006c0008t0001 a0013c0015t0001 a0001c0003t0001 a0006c0008t0001 a0013c0015t0001	a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0014 others(5): Show a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0014 a0001c0003t0001g0015 a0001c0003t0001g0024 a0001c0003t0001g0025 a0006c0008t0001g0144 a0013c0015t0001g0223	8	115	0.0696	9	c.134 others(26): Show c.1342-234_1342-226dupGAAGAAGAA	NBAS	ENSG00000151779.14	transcript	ENST00000281513.10	protein_coding	14/51			chr2	TogoVar
NBAS_chr2_15161916_15566334	15516751	A A	AGAAGTTA others(2): Show AGAAGTTATT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG01109.hp1 others(12): Show HG00408.hp2 HG00438.hp2 HG01109.hp1 HG01358.hp2 HG02451.hp2 HG02698.hp1 HG03017.hp2 HG03041.hp1 HG03540.hp2 HG04199.hp1 NA18948.hp1 NA18963.hp2 NA19010.hp2 NA19072.hp1 NA19084.hp1	a0005 a0008 a0010 others(3): Show a0005 a0008 a0010 a0016 a0019 a0027	a0005c0006 a0005c0051 a0008c0014 others(5): Show a0005c0006 a0005c0051 a0008c0014 a0008c0019 a0010c0013 a0016c0052 a0019c0020 a0027c0031	a0005c0006t0001 a0005c0051t0001 a0008c0014t0001 others(5): Show a0005c0006t0001 a0005c0051t0001 a0008c0014t0001 a0008c0019t0001 a0010c0013t0001 a0016c0052t0001 a0019c0020t0001 a0027c0031t0001	a0005c0006t0001g0136 a0005c0006t0001g0138 a0005c0006t0001g0139 others(12): Show a0005c0006t0001g0136 a0005c0006t0001g0138 a0005c0006t0001g0139 a0005c0006t0001g0140 a0005c0006t0001g0141 a0005c0006t0001g0142 a0005c0051t0001g0137 a0008c0014t0001g0133 a0008c0014t0001g0134 a0008c0019t0001g0004 a0010c0013t0001g0131 a0010c0013t0001g0132 a0016c0052t0001g0135 a0019c0020t0001g0005 a0027c0031t0001g0029	15	222	0.0676	9	c.747 others(26): Show c.747-5410_747-5402dupAATAACTTC	NBAS	ENSG00000151779.14	transcript	ENST00000281513.10	protein_coding	9/51			chr2	TogoVar
NBAS_chr2_15161916_15566334	15528876	A A	ATATATAT others(2): Show ATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02723.hp2 HG02559.hp2 HG02723.hp2	a0001 a0025 a0001 a0025	a0001c0003 a0025c0029 a0001c0003 a0025c0029	a0001c0003t0001 a0025c0029t0001 a0001c0003t0001 a0025c0029t0001	a0001c0003t0001g0014 a0025c0029t0001g0031 a0001c0003t0001g0014 a0025c0029t0001g0031	2	217	0.0092	9	c.746 others(26): Show c.746+5666_746+5667insATATATATA	NBAS	ENSG00000151779.14	transcript	ENST00000281513.10	protein_coding	9/51			chr2	TogoVar
NBAS_chr2_15161916_15566334	15528878	A A	ATATATAT others(2): Show ATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02451.hp1 HG02896.hp1 others(2): Show HG02109.hp1 HG02451.hp1 HG02896.hp1 NA19080.hp1 NA19240.hp2	a0001 a0003 a0009 others(1): Show a0001 a0003 a0009 a0024	a0001c0003 a0003c0011 a0009c0027 others(1): Show a0001c0003 a0003c0011 a0009c0027 a0024c0026	a0001c0003t0001 a0003c0011t0001 a0009c0027t0001 others(1): Show a0001c0003t0001 a0003c0011t0001 a0009c0027t0001 a0024c0026t0001	a0001c0003t0001g0023 a0001c0003t0001g0039 a0003c0011t0001g0022 others(2): Show a0001c0003t0001g0023 a0001c0003t0001g0039 a0003c0011t0001g0022 a0009c0027t0001g0026 a0024c0026t0001g0021	5	86	0.0581	9	c.746 others(26): Show c.746+5664_746+5665insATATATATA	NBAS	ENSG00000151779.14	transcript	ENST00000281513.10	protein_coding	9/51			chr2	TogoVar
NBAS_chr2_15161916_15566334	15542875	A A	AGGGATTT others(2): Show AGGGATTTGC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp1 HG02257.hp1 others(9): Show HG01891.hp2 HG02109.hp1 HG02257.hp1 HG02451.hp1 HG02559.hp2 HG02723.hp1 HG02809.hp2 HG02897.hp2 HG03195.hp2 NA19030.hp2 NA19080.hp1 NA19240.hp2	a0001 a0003 a0012 others(2): Show a0001 a0003 a0012 a0024 a0025	a0001c0003 a0003c0011 a0012c0012 others(2): Show a0001c0003 a0003c0011 a0012c0012 a0024c0026 a0025c0029	a0001c0003t0001 a0003c0011t0001 a0012c0012t0001 others(2): Show a0001c0003t0001 a0003c0011t0001 a0012c0012t0001 a0024c0026t0001 a0025c0029t0001	a0001c0003t0001g0019 a0001c0003t0001g0020 a0001c0003t0001g0023 others(9): Show a0001c0003t0001g0019 a0001c0003t0001g0020 a0001c0003t0001g0023 a0001c0003t0001g0030 a0001c0003t0001g0033 a0001c0003t0001g0039 a0003c0011t0001g0022 a0003c0011t0001g0034 a0012c0012t0001g0032 a0012c0012t0001g0143 a0024c0026t0001g0021 a0025c0029t0001g0031	12	222	0.0541	9	c.380 others(26): Show c.380-3528_380-3520dupGCAAATCCC	NBAS	ENSG00000151779.14	transcript	ENST00000281513.10	protein_coding	6/51			chr2	TogoVar
NBAS_chr2_15161916_15566334	15559062	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02738.hp1 HG03491.hp1 others(5): Show HG02602.hp1 HG02738.hp1 HG03491.hp1 HG03834.hp1 NA18977.hp1 NA18991.hp2 NA19072.hp2 NA19088.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0211 others(5): Show a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216	8	40	0.2000	9	c.118 others(24): Show c.118-437_118-429dupTTTTTTTTT	NBAS	ENSG00000151779.14	transcript	ENST00000281513.10	protein_coding	1/51			chr2	TogoVar
NBEAL1_chr2_203009875_203230194	203141341	G G	GATTATTA others(2): Show GATTATTATT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02523.hp1 HG02897.hp1 others(3): Show HG02293.hp2 HG02523.hp1 HG02897.hp1 NA18969.hp2 NA18981.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0234 others(3): Show a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0013g0251	6	281	0.0214	9	c.484 others(28): Show c.4848+2612_4848+2620dupATTATTATT	NBEAL1	ENSG00000144426.19	transcript	ENST00000683969.1	protein_coding	31/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
NBEAL1_chr2_203009875_203230194	203141366	A A	ATTATTAT others(2): Show ATTATTATTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01256.hp1 HG01257.hp2 others(3): Show HG00408.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG02300.hp2 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0022 a0001c0001 a0001c0022	a0001c0001t0001 a0001c0022t0001 a0001c0001t0001 a0001c0022t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0185 a0001c0001t0001g0267 a0001c0022t0001g0005	6	75	0.0800	9	c.484 others(28): Show c.4848+2620_4848+2621insATTATTTTT	NBEAL1	ENSG00000144426.19	transcript	ENST00000683969.1	protein_coding	31/55		INFO_REALIGN_3_PRIME	chr2	TogoVar

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