Joint Open Genome and Omics Platform (JoGo)

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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	175501424	G G	GACACACA others(17): Show GACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01978.hp2 HG02809.hp1 others(2): Show HG01074.hp2 HG01978.hp2 HG02809.hp1 HG03225.hp1 NA19043.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0002c0005 a0005c0006 others(2): Show a0001c0001 a0002c0005 a0005c0006 a0005c0011 a0006c0009	a0001c0001t0022 a0002c0005t0023 a0005c0006t0001 others(2): Show a0001c0001t0022 a0002c0005t0023 a0005c0006t0001 a0005c0011t0001 a0006c0009t0009	a0001c0001t0022g0002 a0002c0005t0023g0045 a0005c0006t0001g0057 others(2): Show a0001c0001t0022g0002 a0002c0005t0023g0045 a0005c0006t0001g0057 a0005c0011t0001g0053 a0006c0009t0009g0061	5	64	0.0781	24	c.165 others(45): Show c.1653+29685_1653+29686insCACACACACACACACACACACACA	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175697813	G G	GTATGTAT others(17): Show GTATGTATACATATATATGTGTATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02965.hp2 HG02055.hp1 HG02965.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0020 a0001c0001 a0010c0020	a0001c0001t0035 a0010c0020t0028 a0001c0001t0035 a0010c0020t0028	a0001c0001t0035g0027 a0010c0020t0028g0001 a0001c0001t0035g0027 a0010c0020t0028g0001	2	64	0.0313	24	c.189 others(45): Show c.1897-39470_1897-39469insATATGTATACATATATATGTGTAT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175697813	G G	GTATGTAT others(17): Show GTATGTATACATATATATGTGTATT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0007 a0012c0017t0007	a0012c0017t0007g0025 a0012c0017t0007g0025	1	64	0.0156	24	c.189 others(45): Show c.1897-39469_1897-39446dupTTATGTATACATATATATGTGTAT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175698483	T T	TTTTATAT others(17): Show TTTTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0004 a0004	a0004c0002 a0004c0002	a0004c0002t0021 a0004c0002t0021	a0004c0002t0021g0003 a0004c0002t0021g0003	1	64	0.0156	24	c.189 others(45): Show c.1897-38822_1897-38821insTTATATATATATATATATATATAT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NABP1_chr2_191673136_191691943	191690439	A A	ATATATAT others(17): Show ATATATATTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0018 a0001c0001t0005g0018	1	394	0.0025	24	c.46 others(35): Show c.4671_*4672insTATATATTTTTTTTTTTTTTTTTT	NABP1	ENSG00000173559.15	transcript	ENST00000425611.9	protein_coding		3497		chr2	TogoVar
NADK2_chr5_36187589_36246925	36213618	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp1 HG01081.hp2 others(19): Show HG00639.hp2 HG00735.hp1 HG01081.hp2 HG01106.hp2 HG01168.hp2 HG01258.hp1 HG01496.hp1 HG02027.hp1 HG02135.hp1 HG03490.hp1 HG03654.hp1 HG03710.hp2 HG03942.hp2 HG04228.hp2 NA18747.hp2 NA18945.hp1 NA19001.hp2 NA19006.hp1 NA19058.hp1 NA19065.hp2 NA19077.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0014 a0001c0001t0018 a0001c0001t0019 a0001c0001t0045 a0001c0001t0047 a0001c0001t0049 a0001c0001t0052	a0001c0001t0002g0037 a0001c0001t0003g0201 a0001c0001t0003g0209 others(17): Show a0001c0001t0002g0037 a0001c0001t0003g0201 a0001c0001t0003g0209 a0001c0001t0003g0226 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0268 a0001c0001t0004g0242 a0001c0001t0004g0246 a0001c0001t0004g0249 a0001c0001t0006g0046 a0001c0001t0006g0279 a0001c0001t0014g0176 a0001c0001t0018g0224 a0001c0001t0019g0255 a0001c0001t0045g0225 a0001c0001t0047g0228 a0001c0001t0049g0227 a0001c0001t0052g0274	22	384	0.0573	24	c.782 others(41): Show c.782-1697_782-1696insATATATATATATATATATATATAT	NADK2	ENSG00000152620.13	transcript	ENST00000381937.9	protein_coding	6/11			chr5	TogoVar
NAGA_chr22_42053334_42075812	42057901	A A	ATATATAT others(17): Show ATATATATATATATATATATTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0121 a0001c0002t0004g0121	1	418	0.0024	24	c.23 others(35): Show c.2377_*2378insAAAAAATATATATATATATATATA	NAGA	ENSG00000198951.12	transcript	ENST00000396398.8	protein_coding		432		chr22	TogoVar
NALCN_chr13_101048776_101421508	101177409	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01123.hp2 HG00738.hp1 HG01123.hp2	a0001 a0001	a0001c0007 a0001c0024 a0001c0007 a0001c0024	a0001c0007t0002 a0001c0024t0012 a0001c0007t0002 a0001c0024t0012	a0001c0007t0002g0067 a0001c0024t0012g0081 a0001c0007t0002g0067 a0001c0024t0012g0081	2	176	0.0114	24	c.176 others(43): Show c.1765-1036_1765-1035insTATATATATATATATATATATATA	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	14/43			chr13	TogoVar
NALCN_chr13_101048776_101421508	101300363	T T	TTTCCTTC others(17): Show TTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01243.hp1 HG01993.hp2 others(14): Show HG00735.hp1 HG01243.hp1 HG01993.hp2 HG02258.hp1 HG02970.hp1 HG03098.hp1 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG04184.hp2 NA18962.hp2 NA18980.hp2 NA18995.hp1 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010 a0001c0012 a0001c0015 a0001c0025 a0003c0029	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0002t0002 a0001c0003t0001 a0001c0010t0007 a0001c0012t0008 a0001c0015t0002 a0001c0025t0004 a0003c0029t0005	a0001c0001t0001g0022 a0001c0001t0001g0092 a0001c0001t0001g0107 others(14): Show a0001c0001t0001g0022 a0001c0001t0001g0092 a0001c0001t0001g0107 a0001c0001t0002g0171 a0001c0001t0003g0085 a0001c0001t0003g0093 a0001c0001t0005g0101 a0001c0002t0002g0028 a0001c0002t0002g0099 a0001c0002t0002g0105 a0001c0003t0001g0098 a0001c0003t0001g0112 a0001c0010t0007g0167 a0001c0012t0008g0095 a0001c0015t0002g0080 a0001c0025t0004g0027 a0003c0029t0005g0114	17	176	0.0966	24	c.800 others(41): Show c.800-7998_800-7997insGGAAGGAAGGAAGGAAGGAAGGAA	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	7/43			chr13	TogoVar
NALCN_chr13_101048776_101421508	101345737	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02818.hp1 HG03130.hp1 others(6): Show HG01981.hp1 HG02818.hp1 HG03130.hp1 HG03710.hp2 HG04184.hp2 NA18962.hp2 NA18964.hp2 NA18995.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0009	a0001c0001t0001 a0001c0001t0018 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0018 a0001c0002t0002 a0001c0003t0001 a0001c0008t0001 a0001c0009t0004	a0001c0001t0001g0107 a0001c0001t0018g0009 a0001c0002t0002g0086 others(6): Show a0001c0001t0001g0107 a0001c0001t0018g0009 a0001c0002t0002g0086 a0001c0002t0002g0099 a0001c0002t0002g0156 a0001c0003t0001g0098 a0001c0003t0001g0111 a0001c0008t0001g0172 a0001c0009t0004g0046	9	176	0.0511	24	c.645 others(39): Show c.645-341_645-318dupATATATATATATATATATATATAT	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	6/43			chr13	TogoVar
NALCN_chr13_101048776_101421508	101346057	T T	TTCTCTCT others(17): Show TTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0030 a0001c0011t0001g0030	1	176	0.0057	24	c.645 others(39): Show c.645-661_645-638dupGAGAGAGAGAGAGAGAGAGAGAGA	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	6/43			chr13	TogoVar
NALCN_chr13_101048776_101421508	101346087	C C	CTCTCTCT others(17): Show CTCTCTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01517.hp1 NA19240.hp1 HG01517.hp1 NA19240.hp1	a0001 a0001	a0001c0005 a0001c0013 a0001c0005 a0001c0013	a0001c0005t0011 a0001c0013t0012 a0001c0005t0011 a0001c0013t0012	a0001c0005t0011g0073 a0001c0013t0012g0062 a0001c0005t0011g0073 a0001c0013t0012g0062	2	176	0.0114	24	c.645 others(39): Show c.645-668_645-667insTATATATATATATAGAGAGAGAGA	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	6/43			chr13	TogoVar
NALCN_chr13_101048776_101421508	101346087	C C	CTCTCTCT others(17): Show CTCTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	176	0.0057	24	c.645 others(39): Show c.645-668_645-667insTATATATATATAGAGAGAGAGAGA	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	6/43			chr13	TogoVar
NALCN_chr13_101048776_101421508	101346087	C C	CTCTCTCT others(17): Show CTCTCTCTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0155 a0001c0003t0001g0155	1	176	0.0057	24	c.645 others(39): Show c.645-668_645-667insTATATATAGAGAGAGAGAGAGAGA	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	6/43			chr13	TogoVar
NALCN_chr13_101048776_101421508	101346087	C C	CTCTCTCT others(17): Show CTCTCTCTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0109 a0001c0001t0006g0109	1	176	0.0057	24	c.645 others(39): Show c.645-668_645-667insTATATAGAGAGAGAGAGAGAGAGA	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	6/43			chr13	TogoVar
NALCN_chr13_101048776_101421508	101346087	C C	CTCTCTCT others(17): Show CTCTCTCTCTCTCTCTCTCTCTCTA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0023 a0001c0001t0004g0023	1	176	0.0057	24	c.645 others(39): Show c.645-668_645-667insTAGAGAGAGAGAGAGAGAGAGAGA	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	6/43			chr13	TogoVar
NALCN_chr13_101048776_101421508	101415228	T T	TATATATA others(17): Show TATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01993.hp1 HG02280.hp1 others(6): Show HG01070.hp1 HG01993.hp1 HG02280.hp1 HG02451.hp1 HG02622.hp2 HG03239.hp1 NA18950.hp2 NA18986.hp2 NA19030.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0017 a0001c0022 a0006c0028	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0004t0007 a0001c0017t0010 a0001c0022t0002 a0006c0028t0002	a0001c0001t0001g0040 a0001c0001t0003g0042 a0001c0003t0001g0039 others(6): Show a0001c0001t0001g0040 a0001c0001t0003g0042 a0001c0003t0001g0039 a0001c0003t0001g0041 a0001c0003t0001g0044 a0001c0004t0007g0038 a0001c0017t0010g0043 a0001c0022t0002g0055 a0006c0028t0002g0045	9	176	0.0511	24	c.-40 others(41): Show c.-40+1084_-40+1085insGTATGTATATATATATATATATAT	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	1/43			chr13	TogoVar
NALF1_chr13_107158510_107872496	107438827	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG03209.hp2 HG03453.hp1 HG01943.hp2 HG03209.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0063 a0001c0002t0038 a0001c0002t0050 a0001c0001t0063 a0001c0002t0038 a0001c0002t0050	a0001c0001t0063g0034 a0001c0002t0038g0071 a0001c0002t0050g0080 a0001c0001t0063g0034 a0001c0002t0038g0071 a0001c0002t0050g0080	3	128	0.0234	24	c.916 others(45): Show c.916-228096_916-228073dupTTTTTTTTTTTTTTTTTTTTTTTT	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107638201	A A	ATATATAT others(17): Show ATATATATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	HG01361.hp1 NA18967.hp2 HG01361.hp1 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0079 a0001c0001t0008 a0001c0001t0079	a0001c0001t0008g0109 a0001c0001t0079g0114 a0001c0001t0008g0109 a0001c0001t0079g0114	2	128	0.0156	24	c.915 others(45): Show c.915+227480_915+227481insCATACATATATATATATATATATA	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107644642	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02155.hp2 NA18747.hp1 others(1): Show HG00408.hp2 HG02155.hp2 NA18747.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0011 a0001c0002t0002 others(1): Show a0001c0001t0002 a0001c0001t0011 a0001c0002t0002 a0001c0002t0012	a0001c0001t0002g0053 a0001c0001t0011g0057 a0001c0002t0002g0086 others(1): Show a0001c0001t0002g0053 a0001c0001t0011g0057 a0001c0002t0002g0086 a0001c0002t0012g0085	4	128	0.0313	24	c.915 others(45): Show c.915+221039_915+221040insATATATATATATATATATATATAT	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107756435	C C	CTATATAT others(17): Show CTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0116 a0001c0001t0083g0116	1	128	0.0078	24	c.915 others(45): Show c.915+109246_915+109247insTATATATATATATATATATATATA	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NAMPT_chr7_106243298_106289983	106267840	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG03130.hp2 NA19067.hp1 others(1): Show HG01934.hp2 HG03130.hp2 NA19067.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0054 a0001c0001t0001g0182 a0001c0001t0003g0192 others(1): Show a0001c0001t0001g0054 a0001c0001t0001g0182 a0001c0001t0003g0192 a0001c0001t0003g0193	4	336	0.0119	24	c.743 others(39): Show c.743+600_743+623dupTTTTTTTTTTTTTTTTTTTTTTTT	NAMPT	ENSG00000105835.13	transcript	ENST00000222553.8	protein_coding	6/10			chr7	TogoVar
NANOGNB_chr12_7760216_7779121	7765569	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02683.hp2 HG01167.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0074 a0001c0001t0001g0075	2	460	0.0044	24	c.102 others(39): Show c.102+202_102+203insAAAAAAAAAAAAAAAAAAAAAAAA	NANOGNB	ENSG00000205857.2	transcript	ENST00000382119.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
NAP1L1_chr12_76031585_76089685	76058191	C C	CTTCATAT others(17): Show CTTCATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02965.hp2 HG01891.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0019 a0001c0001t0007g0019	2	356	0.0056	24	c.429 others(41): Show c.429+1606_429+1607insTATATATATATATATATATATGAA	NAP1L1	ENSG00000187109.15	transcript	ENST00000618691.5	protein_coding	6/14			chr12	TogoVar
NAP1L1_chr12_76031585_76089685	76076549	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp1 NA20752.hp2 HG03927.hp1 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0004 a0001c0003t0010 a0001c0002t0004 a0001c0003t0010	a0001c0002t0004g0297 a0001c0003t0010g0277 a0001c0002t0004g0297 a0001c0003t0010g0277	2	356	0.0056	24	c.-20 others(41): Show c.-20-2334_-20-2311dupATATATATATATATATATATATAT	NAP1L1	ENSG00000187109.15	transcript	ENST00000618691.5	protein_coding	1/14			chr12	TogoVar
NAP1L5_chr4_88690913_88702829	88699338	C C	CCCCACCC others(17): Show CCCCACCCTCTTCTTCCCCACCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	1	414	0.0024	24	c.-16 others(35): Show c.-1608_-1585dupCAGGGTGGGGAAGAAGAGGGTGGG	NAP1L5	ENSG00000177432.8	transcript	ENST00000323061.7	protein_coding		1510		chr4	TogoVar
NAPEPLD_chr7_103094776_103154099	103099575	C C	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00673.hp2 others(11): Show HG00408.hp2 HG00423.hp2 HG00673.hp2 HG02015.hp1 HG02074.hp1 HG02074.hp2 HG02129.hp2 HG02135.hp1 NA18941.hp2 NA18945.hp1 NA18961.hp1 NA18963.hp2 NA18965.hp1 NA18983.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0001 a0001c0001t0004 a0002c0002t0001	a0001c0001t0004g0186 a0002c0002t0001g0012 a0002c0002t0001g0021 others(9): Show a0001c0001t0004g0186 a0002c0002t0001g0012 a0002c0002t0001g0021 a0002c0002t0001g0159 a0002c0002t0001g0164 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0204 a0002c0002t0001g0206	14	381	0.0368	24	c.38 others(35): Show c.3853_*3854insACACACACACACACACACACACAC	NAPEPLD	ENSG00000161048.12	transcript	ENST00000465647.6	protein_coding		200		chr7	TogoVar
NARF_chr17_82453741_82495537	82471791	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02717.hp1 NA18981.hp1 others(4): Show HG01496.hp1 HG02717.hp1 NA18981.hp1 NA18995.hp1 NA19084.hp2 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0015 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0015 a0001c0001t0032	a0001c0001t0001g0039 a0001c0001t0001g0189 a0001c0001t0001g0212 others(3): Show a0001c0001t0001g0039 a0001c0001t0001g0189 a0001c0001t0001g0212 a0001c0001t0007g0231 a0001c0001t0015g0037 a0001c0001t0032g0039	7	356	0.0197	24	c.386 others(39): Show c.386-757_386-756insAAAAAAAAAAAAAAAAAAAAAAAA	NARF	ENSG00000141562.19	transcript	ENST00000309794.16	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
NARF_chr17_82453741_82495537	82494058	T T	TAGAGAGA others(17): Show TAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG03098.hp1 HG03139.hp2 others(1): Show HG02056.hp1 HG03098.hp1 HG03139.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0084 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0084 a0001c0001t0001g0117	4	356	0.0112	24	c.59 others(35): Show c.5901_*5902insAGAGAGAGAGAGAGAGAGAGAGAG	NARF	ENSG00000141562.19	transcript	ENST00000309794.16	protein_coding		3522		chr17	TogoVar
NARS2_chr11_78430968_78579864	78461602	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	294	0.0034	24	c.116 others(43): Show c.1164+4250_1164+4273dupTTTTTTTTTTTTTTTTTTTTTTTT	NARS2	ENSG00000137513.11	transcript	ENST00000281038.10	protein_coding	11/13			chr11	TogoVar
NARS2_chr11_78430968_78579864	78554500	C C	CGTGTGTG others(17): Show CGTGTGTGTGCATGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03486.hp1 HG02723.hp2 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0168 a0001c0003t0003g0169 a0001c0003t0003g0168 a0001c0003t0003g0169	2	294	0.0068	24	c.594 others(41): Show c.594+5038_594+5039insACACACACACACATGCACACACAC	NARS2	ENSG00000137513.11	transcript	ENST00000281038.10	protein_coding	5/13			chr11	TogoVar
NASP_chr1_45579041_45623893	45587687	T T	TATATATA others(17): Show TATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00738.hp1 HG00738.hp2 others(18): Show HG00408.hp1 HG00738.hp1 HG00738.hp2 HG01071.hp1 HG01175.hp1 HG01346.hp1 HG02135.hp1 HG02148.hp2 HG02273.hp2 HG02523.hp2 HG03195.hp2 HG03490.hp1 HG03579.hp2 HG03704.hp2 NA18967.hp1 NA18970.hp2 NA19007.hp1 NA19076.hp1 NA19077.hp1 NA19091.hp1 NA20129.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0004c0013	a0001c0001t0001 a0001c0002t0001 a0002c0004t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0002c0004t0001 a0004c0013t0001	a0001c0001t0001g0010 a0001c0001t0001g0063 a0001c0001t0001g0064 others(18): Show a0001c0001t0001g0010 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0128 a0001c0001t0001g0172 a0001c0002t0001g0202 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0269 a0001c0002t0001g0278 a0001c0002t0001g0299 a0002c0004t0001g0188 a0004c0013t0001g0233	21	300	0.0700	24	c.59+ others(39): Show c.59+3483_59+3484insTATATATATATATATATATATAAA	NASP	ENSG00000132780.17	transcript	ENST00000350030.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAT10_chr11_34100629_34151908	34141408	T T	TCACACAC others(17): Show TCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0005 a0001c0020t0005	a0001c0020t0005g0025 a0001c0020t0005g0025	1	262	0.0038	24	c.271 others(41): Show c.2712+220_2712+243dupACACACACACACACACACACACAC	NAT10	ENSG00000135372.10	transcript	ENST00000257829.8	protein_coding	25/28		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAT8_chr2_73635723_73647422	73643813	G G	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	396	0.0025	24	c.-15 others(35): Show c.-1571_-1570insACACACACACACACACACACACAC	NAT8	ENSG00000144035.4	transcript	ENST00000272425.4	protein_coding		1392		chr2	TogoVar
NAT8_chr2_73635723_73647422	73643833	T T	TGTGTGTG others(17): Show TGTGTGTGCGCACGTGCGCGCGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 NA19240.hp2 NA20129.hp2 HG02886.hp2 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	3	396	0.0076	24	c.-15 others(35): Show c.-1591_-1590insGCGCGCGCGCACGTGCGCACACAC	NAT8	ENSG00000144035.4	transcript	ENST00000272425.4	protein_coding		1412		chr2	TogoVar
NAT8_chr2_73635723_73647422	73643833	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGTGTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	396	0.0025	24	c.-15 others(35): Show c.-1591_-1590insGCACACACACACACACACACACAC	NAT8	ENSG00000144035.4	transcript	ENST00000272425.4	protein_coding		1412		chr2	TogoVar
NATD1_chr17_21233870_21258410	21235866	T T	TCCACCCA others(17): Show TCCACCCATCTACCCATCCATCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	24	c.74 others(35): Show c.7446_*7447insGTGGATGGATGGGTAGATGGGTGG	NATD1	ENSG00000274180.1	transcript	ENST00000611551.1	protein_coding		3003		chr17	TogoVar
NATD1_chr17_21233870_21258410	21240703	T T	TCTCGCCC others(17): Show TCTCGCCCAGGTGCATAAACCGGGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0087 a0001c0001t0036g0087	1	422	0.0024	24	c.26 others(35): Show c.2609_*2610insCCCCGGTTTATGCACCTGGGCGAG	NATD1	ENSG00000274180.1	transcript	ENST00000611551.1	protein_coding	3/3	2609		chr17	TogoVar
NAV1_chr1_201534127_201831969	201642212	C C	CCTTCCTT others(17): Show CCTTCCTTCCTTCCTTCCCTCCTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0088 a0006c0008t0088	a0006c0008t0088g0089 a0006c0008t0088g0089	1	210	0.0048	24	c.827 others(41): Show c.827-6421_827-6420insTTCCTTCCTTCCTTCCCTCCTTTC	NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	4/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV1_chr1_201534127_201831969	201642511	C C	CTCTTTCT others(17): Show CTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG02735.hp2 others(1): Show HG01069.hp2 HG01071.hp1 HG02735.hp2 HG03098.hp1	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0005c0016 a0007c0017 a0001c0001 a0005c0016 a0007c0017	a0001c0001t0001 a0005c0016t0014 a0007c0017t0062 a0001c0001t0001 a0005c0016t0014 a0007c0017t0062	a0001c0001t0001g0165 a0005c0016t0014g0004 a0005c0016t0014g0026 others(1): Show a0001c0001t0001g0165 a0005c0016t0014g0004 a0005c0016t0014g0026 a0007c0017t0062g0198	4	210	0.0191	24	c.827 others(41): Show c.827-6110_827-6109insCTTTCTTTCTTTCTTTCTTTCTTT	NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	4/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV1_chr1_201534127_201831969	201642525	T T	TTTTCTTT others(17): Show TTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01975.hp2 NA18963.hp2 NA20805.hp2 HG01975.hp2 NA18963.hp2 NA20805.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0014 a0004c0003 a0001c0001 a0001c0014 a0004c0003	a0001c0001t0094 a0001c0014t0001 a0004c0003t0032 a0001c0001t0094 a0001c0014t0001 a0004c0003t0032	a0001c0001t0094g0039 a0001c0014t0001g0170 a0004c0003t0032g0133 a0001c0001t0094g0039 a0001c0014t0001g0170 a0004c0003t0032g0133	3	210	0.0143	24	c.827 others(41): Show c.827-6101_827-6078dupCTTTCTTTCTTTCTTTCTTTCTTT	NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	4/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV1_chr1_201534127_201831969	201651122	C C	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02896.hp1 HG02451.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0085 a0001c0001t0001 a0001c0001t0085	a0001c0001t0001g0140 a0001c0001t0085g0194 a0001c0001t0001g0140 a0001c0001t0085g0194	2	210	0.0095	24	c.161 others(43): Show c.1618+1712_1618+1735dupGTGTGTGTGTGTGTGTGTGTGTGT	NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV1_chr1_201534127_201831969	201702672	T T	TTCCCTCT others(17): Show TTCCCTCTCTCTCTCTCTCTTTCTC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0013 a0008c0011t0013	a0008c0011t0013g0073 a0008c0011t0013g0073	1	210	0.0048	24	c.161 others(45): Show c.1619-10143_1619-10142insCCTCTCTCTCTCTCTCTTTCTCTC	NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV1_chr1_201534127_201831969	201734493	G G	GAGAAGAA others(17): Show GAGAAGAAGAAGAAGAAGAAGAAGA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG03098.hp2 HG03540.hp2 others(1): Show HG01069.hp1 HG03098.hp2 HG03540.hp2 NA19043.hp1	a0001 a0003 a0018 a0001 a0003 a0018	a0001c0001 a0001c0023 a0003c0004 others(1): Show a0001c0001 a0001c0023 a0003c0004 a0018c0019	a0001c0001t0017 a0001c0023t0004 a0003c0004t0040 others(1): Show a0001c0001t0017 a0001c0023t0004 a0003c0004t0040 a0018c0019t0042	a0001c0001t0017g0113 a0001c0023t0004g0146 a0003c0004t0040g0142 others(1): Show a0001c0001t0017g0113 a0001c0023t0004g0146 a0003c0004t0040g0142 a0018c0019t0042g0141	4	210	0.0191	24	c.208 others(45): Show c.2087+15743_2087+15744insAAGAAGAAGAAGAAGAAGAAGAAG	NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	7/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV1_chr1_201534127_201831969	201734499	G G	GAGAAGAA others(17): Show GAGAAGAAGAAGAAGAAGAAGAAGA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01975.hp2 HG03139.hp2 others(4): Show HG01074.hp2 HG01975.hp2 HG03139.hp2 HG03209.hp2 NA18994.hp1 NA19011.hp2 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0035 a0001c0001 a0003c0035	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0015 a0001c0001t0050 a0001c0001t0094 a0003c0035t0006	a0001c0001t0001g0124 a0001c0001t0002g0030 a0001c0001t0007g0080 others(4): Show a0001c0001t0001g0124 a0001c0001t0002g0030 a0001c0001t0007g0080 a0001c0001t0015g0071 a0001c0001t0050g0096 a0001c0001t0094g0039 a0003c0035t0006g0191	7	210	0.0333	24	c.208 others(45): Show c.2087+15754_2087+15777dupAGAAGAAGAAGAAGAAGAAGAAGA	NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	7/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV1_chr1_201534127_201831969	201779598	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0051 a0001c0031t0051	a0001c0031t0051g0107 a0001c0031t0051g0107	1	210	0.0048	24	c.208 others(41): Show c.2088-800_2088-799insAAAAAAAAAAAAAAAAAAAAAAAA	NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	7/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV1_chr1_201534127_201831969	201802136	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03654.hp1 HG03831.hp2 HG02735.hp1 HG03654.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0003g0010 a0001c0001t0003g0021 a0001c0001t0001g0001 a0001c0001t0003g0010 a0001c0001t0003g0021	3	210	0.0143	24	c.437 others(43): Show c.4379-1438_4379-1437insAAAAAAAAAAAAAAAAAAAAAAAA	NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	19/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV2_chr11_19707837_20126601	19944705	T T	TTTCCTTC others(17): Show TTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03579.hp2 HG03516.hp2 HG03579.hp2	a0001 a0013 a0001 a0013	a0001c0058 a0013c0057 a0001c0058 a0013c0057	a0001c0058t0009 a0013c0057t0008 a0001c0058t0009 a0013c0057t0008	a0001c0058t0009g0068 a0013c0057t0008g0093 a0001c0058t0009g0068 a0013c0057t0008g0093	2	166	0.0121	24	c.214 others(43): Show c.2147-1693_2147-1670dupCCTTCCTTCCTTCCTTCCTTCCTT	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	8/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV2_chr11_19707837_20126601	20106175	A A	ATATATAT others(17): Show ATATATATATATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0003 a0003	a0003c0064 a0003c0064	a0003c0064t0004 a0003c0064t0004	a0003c0064t0004g0016 a0003c0064t0004g0016	1	166	0.0060	24	c.684 others(41): Show c.6841+449_6841+450insATATATATATATATGTGTGTGTGT	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	35/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV2_chr11_19707837_20126601	20106175	A A	ATATATAT others(17): Show ATATATATATATATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02071.hp1 HG02071.hp2 others(1): Show HG00673.hp1 HG02071.hp1 HG02071.hp2 NA20752.hp1	a0004 a0014 a0004 a0014	a0004c0001 a0004c0017 a0004c0133 others(1): Show a0004c0001 a0004c0017 a0004c0133 a0014c0108	a0004c0001t0006 a0004c0017t0006 a0004c0133t0006 others(1): Show a0004c0001t0006 a0004c0017t0006 a0004c0133t0006 a0014c0108t0001	a0004c0001t0006g0046 a0004c0017t0006g0026 a0004c0133t0006g0024 others(1): Show a0004c0001t0006g0046 a0004c0017t0006g0026 a0004c0133t0006g0024 a0014c0108t0001g0044	4	166	0.0241	24	c.684 others(41): Show c.6841+449_6841+450insATATATATATATGTGTGTGTGTGT	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	35/37		INFO_REALIGN_3_PRIME	chr11	TogoVar

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