Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NAIP_chr5_70963166_71030339	71017448	A A	AAATCTTG others(13): Show AAATCTTGACTGGGCACAGTG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0017 a0004c0008t0017	a0004c0008t0017g0012 a0004c0008t0017g0012	1	141	0.0071	20	c.-4+ others(35): Show c.-4+3191_-4+3210dupCACTGTGCCCAGTCAAGATT	NAIP	ENSG00000249437.8	transcript	ENST00000517649.6	protein_coding	3/16			chr5	TogoVar
NALCN_chr13_101048776_101421508	101177409	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01175.hp2 NA19030.hp1 HG00280.hp2 HG01175.hp2 NA19030.hp1	a0001 a0004 a0001 a0004	a0001c0006 a0001c0023 a0004c0026 a0001c0006 a0001c0023 a0004c0026	a0001c0006t0005 a0001c0023t0004 a0004c0026t0001 a0001c0006t0005 a0001c0023t0004 a0004c0026t0001	a0001c0006t0005g0115 a0001c0023t0004g0052 a0004c0026t0001g0088 a0001c0006t0005g0115 a0001c0023t0004g0052 a0004c0026t0001g0088	3	176	0.0171	20	c.176 others(39): Show c.1765-1055_1765-1036dupTATATATATATATATATATA	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	14/43			chr13	TogoVar
NALCN_chr13_101048776_101421508	101300363	T T	TTTCCTTC others(13): Show TTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp2 HG01884.hp1 others(10): Show HG01109.hp2 HG01243.hp2 HG01884.hp1 HG02015.hp1 HG02109.hp2 HG02135.hp2 HG02257.hp2 HG02559.hp2 HG02897.hp1 HG03130.hp1 HG04204.hp1 HG06807.hp1 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0009 a0001c0012	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0002t0002 a0001c0002t0019 a0001c0004t0009 a0001c0005t0002 a0001c0005t0014 a0001c0006t0013 a0001c0009t0004 a0001c0012t0002	a0001c0001t0001g0024 a0001c0001t0001g0090 a0001c0001t0004g0023 others(10): Show a0001c0001t0001g0024 a0001c0001t0001g0090 a0001c0001t0004g0023 a0001c0001t0007g0170 a0001c0002t0002g0048 a0001c0002t0002g0143 a0001c0002t0019g0135 a0001c0004t0009g0061 a0001c0005t0002g0082 a0001c0005t0014g0007 a0001c0006t0013g0029 a0001c0009t0004g0046 a0001c0012t0002g0094	13	176	0.0739	20	c.800 others(37): Show c.800-7998_800-7997insGGAAGGAAGGAAGGAAGGAA	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	7/43			chr13	TogoVar
NALCN_chr13_101048776_101421508	101300404	T T	TTCCTTCC others(13): Show TTCCTTCCTTCCTTCCTTCCC	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA19030.hp2 HG02280.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0017 a0001c0001 a0001c0017	a0001c0001t0001 a0001c0017t0010 a0001c0001t0001 a0001c0017t0010	a0001c0001t0001g0040 a0001c0017t0010g0043 a0001c0001t0001g0040 a0001c0017t0010g0043	2	176	0.0114	20	c.800 others(37): Show c.800-8039_800-8038insGGGAAGGAAGGAAGGAAGGA	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	7/43			chr13	TogoVar
NALCN_chr13_101048776_101421508	101345737	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18962.hp1 NA20752.hp2 NA18943.hp2 NA18962.hp1 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0029 a0001c0001 a0003c0029	a0001c0001t0006 a0003c0029t0005 a0001c0001t0006 a0003c0029t0005	a0001c0001t0006g0113 a0001c0001t0006g0121 a0003c0029t0005g0114 a0001c0001t0006g0113 a0001c0001t0006g0121 a0003c0029t0005g0114	3	176	0.0171	20	c.645 others(35): Show c.645-337_645-318dupATATATATATATATATATAT	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	6/43			chr13	TogoVar
NALCN_chr13_101048776_101421508	101346087	C C	CTCTCTCT others(13): Show CTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0119 a0001c0002t0002g0119	1	176	0.0057	20	c.645 others(35): Show c.645-668_645-667insTATATATATATATAGAGAGA	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	6/43			chr13	TogoVar
NALCN_chr13_101048776_101421508	101346087	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0004 a0001c0009t0004	a0001c0009t0004g0046 a0001c0009t0004g0046	1	176	0.0057	20	c.645 others(35): Show c.645-668_645-667insTATATATATAGAGAGAGAGA	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	6/43			chr13	TogoVar
NALCN_chr13_101048776_101421508	101346087	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	HG01993.hp1 NA21309.hp1 HG01993.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0022 a0001c0002 a0001c0022	a0001c0002t0002 a0001c0022t0002 a0001c0002t0002 a0001c0022t0002	a0001c0002t0002g0002 a0001c0022t0002g0055 a0001c0002t0002g0002 a0001c0022t0002g0055	2	176	0.0114	20	c.645 others(35): Show c.645-668_645-667insTATATAGAGAGAGAGAGAGA	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	6/43			chr13	TogoVar
NALCN_chr13_101048776_101421508	101346087	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTCTCTA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0104 a0001c0003t0001g0104	1	176	0.0057	20	c.645 others(35): Show c.645-668_645-667insTAGAGAGAGAGAGAGAGAGA	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	6/43			chr13	TogoVar
NALCN_chr13_101048776_101421508	101415228	T T	TATATATA others(13): Show TATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG02071.hp1 HG02523.hp2 others(4): Show HG01517.hp1 HG02071.hp1 HG02523.hp2 HG02965.hp2 NA18943.hp1 NA18957.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0013	a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 a0001c0004t0009 a0001c0005t0003 a0001c0013t0012	a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0006g0056 others(4): Show a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0006g0056 a0001c0002t0002g0058 a0001c0004t0009g0061 a0001c0005t0003g0057 a0001c0013t0012g0062	7	176	0.0398	20	c.-40 others(37): Show c.-40+1084_-40+1085insGTATGTATATATATATATAT	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	1/43			chr13	TogoVar
NALF1_chr13_107158510_107872496	107262769	G G	GCTCTCTC others(13): Show GCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0064 a0001c0002t0064	a0001c0002t0064g0078 a0001c0002t0064g0078	1	128	0.0078	20	c.916 others(39): Show c.916-52034_916-52015dupAGAGAGAGAGAGAGAGAGAG	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107438827	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	128	0.0078	20	c.916 others(41): Show c.916-228092_916-228073dupTTTTTTTTTTTTTTTTTTTT	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107521953	A A	ACACACAC others(13): Show ACACACACAGAAACACACACT	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0121 a0002c0003t0006g0121	1	128	0.0078	20	c.916 others(41): Show c.916-311218_916-311199dupAGTGTGTGTTTCTGTGTGTG	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107612046	A A	AGGGAGAG others(13): Show AGGGAGAGAGGGGAGTGGGGG	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	128	0.0078	20	c.915 others(41): Show c.915+253616_915+253635dupCCCCCACTCCCCTCTCTCCC	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107644642	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02056.hp1 HG02135.hp2 others(3): Show HG00609.hp1 HG02056.hp1 HG02135.hp2 HG03453.hp2 NA18522.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0015 a0001c0001t0032 a0001c0001t0048 others(3): Show a0001c0001t0015 a0001c0001t0032 a0001c0001t0048 a0001c0001t0078 a0001c0001t0083 a0001c0002t0002	a0001c0001t0015g0099 a0001c0001t0032g0016 a0001c0001t0048g0056 others(3): Show a0001c0001t0015g0099 a0001c0001t0032g0016 a0001c0001t0048g0056 a0001c0001t0078g0092 a0001c0001t0083g0116 a0001c0002t0002g0087	6	128	0.0469	20	c.915 others(41): Show c.915+221039_915+221040insATATATATATATATATATAT	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107644657	A A	ATATATAT others(13): Show ATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0082 a0002c0003t0082	a0002c0003t0082g0119 a0002c0003t0082g0119	1	128	0.0078	20	c.915 others(41): Show c.915+221024_915+221025insCATATATATATATATATATA	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107756435	C C	CTATATAT others(13): Show CTATATATATACATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02809.hp2 HG02922.hp1 HG01081.hp2 HG02809.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0030 a0001c0001t0096 a0001c0001t0010 a0001c0001t0030 a0001c0001t0096	a0001c0001t0010g0035 a0001c0001t0030g0018 a0001c0001t0096g0128 a0001c0001t0010g0035 a0001c0001t0030g0018 a0001c0001t0096g0128	3	128	0.0234	20	c.915 others(41): Show c.915+109246_915+109247insTATATATATGTATATATATA	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107756435	C C	CTATATAT others(13): Show CTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0039 a0001c0001t0045g0039	1	128	0.0078	20	c.915 others(41): Show c.915+109227_915+109246dupTATATATATATATATATATA	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF2_chrX_69499326_69537508	69536684	G G	GTGCTAAC others(13): Show GTGCTAACAATTAACAAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	322	0.0031	20	c.67 others(31): Show c.6728_*6729insTGCTAACAATTAACAAGAGA	NALF2	ENSG00000130054.5	transcript	ENST00000252338.5	protein_coding		4177		chrX	TogoVar
NAMPT_chr7_106243298_106289983	106267840	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01433.hp1 HG02055.hp1 others(4): Show HG00738.hp1 HG01433.hp1 HG02055.hp1 HG02155.hp1 NA18965.hp1 NA18975.hp2 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0015 a0001c0001t0020 others(1): Show a0001c0001t0001 a0001c0001t0015 a0001c0001t0020 a0001c0002t0002	a0001c0001t0001g0086 a0001c0001t0001g0098 a0001c0001t0001g0103 others(4): Show a0001c0001t0001g0086 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0015g0162 a0001c0001t0020g0263 a0001c0002t0002g0212 a0001c0002t0002g0213	7	336	0.0208	20	c.743 others(35): Show c.743+604_743+623dupTTTTTTTTTTTTTTTTTTTT	NAMPT	ENSG00000105835.13	transcript	ENST00000222553.8	protein_coding	6/10			chr7	TogoVar
NAMPT_chr7_106243298_106289983	106267872	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0217 a0001c0002t0002g0217	1	336	0.0030	20	c.743 others(35): Show c.743+591_743+592insGTTTTTTTTTTTTTTTTTTT	NAMPT	ENSG00000105835.13	transcript	ENST00000222553.8	protein_coding	6/10			chr7	TogoVar
NANOGNB_chr12_7760216_7779121	7765569	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02015.hp2 NA19012.hp1 others(1): Show HG01256.hp1 HG02015.hp2 NA19012.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 others(1): Show a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088	4	460	0.0087	20	c.102 others(35): Show c.102+183_102+202dupAAAAAAAAAAAAAAAAAAAA	NANOGNB	ENSG00000205857.2	transcript	ENST00000382119.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
NANOG_chr12_7784402_7804146	7800837	T T	TAAATTAA others(13): Show TAAATTAAAAATTAAATTTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00639.hp1 others(26): Show HG00280.hp1 HG00323.hp1 HG00639.hp1 HG00735.hp1 HG01071.hp1 HG01099.hp1 HG01123.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp2 HG01361.hp2 HG01517.hp2 HG02109.hp2 HG02257.hp2 HG02258.hp2 HG02300.hp1 HG02602.hp1 HG02683.hp1 HG02683.hp2 HG02738.hp1 HG02886.hp2 HG02976.hp1 HG03453.hp2 HG04184.hp1 HG04228.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp2 NA20905.hp2	a0002 a0002	a0002c0004 a0002c0005 a0002c0004 a0002c0005	a0002c0004t0007 a0002c0004t0023 a0002c0004t0039 others(8): Show a0002c0004t0007 a0002c0004t0023 a0002c0004t0039 a0002c0004t0040 a0002c0004t0041 a0002c0004t0043 a0002c0004t0045 a0002c0004t0046 a0002c0004t0052 a0002c0005t0024 a0002c0005t0044	a0002c0004t0007g0007 a0002c0004t0007g0018 a0002c0004t0007g0029 others(12): Show a0002c0004t0007g0007 a0002c0004t0007g0018 a0002c0004t0007g0029 a0002c0004t0007g0045 a0002c0004t0023g0007 a0002c0004t0023g0029 a0002c0004t0039g0007 a0002c0004t0040g0055 a0002c0004t0041g0048 a0002c0004t0043g0007 a0002c0004t0045g0007 a0002c0004t0046g0007 a0002c0004t0052g0007 a0002c0005t0024g0019 a0002c0005t0044g0019	29	434	0.0668	20	c.57 others(31): Show c.5742_*5743insAAATTAAAAATTAAATTTAA	NANOG	ENSG00000111704.11	transcript	ENST00000229307.9	protein_coding		1692		chr12	TogoVar
NANS_chr9_98051732_98088077	98053802	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG01167.hp2 HG02129.hp2 others(6): Show HG00423.hp1 HG01167.hp2 HG02129.hp2 HG03486.hp2 NA18953.hp1 NA18955.hp1 NA18960.hp1 NA18965.hp2 NA19070.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002	a0001c0001t0002 a0001c0003t0001 a0001c0004t0001 others(1): Show a0001c0001t0002 a0001c0003t0001 a0001c0004t0001 a0002c0002t0001	a0001c0001t0002g0001 a0001c0003t0001g0025 a0001c0004t0001g0021 others(5): Show a0001c0001t0002g0001 a0001c0003t0001g0025 a0001c0004t0001g0021 a0002c0002t0001g0008 a0002c0002t0001g0042 a0002c0002t0001g0068 a0002c0002t0001g0081 a0002c0002t0001g0238	9	318	0.0283	20	c.-30 others(31): Show c.-3007_-3006insAAATAAATAAATAAATAAAT	NANS	ENSG00000095380.11	transcript	ENST00000210444.6	protein_coding		2929		chr9	TogoVar
NAP1L1_chr12_76031585_76089685	76058194	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0065 a0001c0002t0065	a0001c0002t0065g0291 a0001c0002t0065g0291	1	356	0.0028	20	c.429 others(37): Show c.429+1584_429+1603dupATATATATATATATATATAT	NAP1L1	ENSG00000187109.15	transcript	ENST00000618691.5	protein_coding	6/14			chr12	TogoVar
NAP1L1_chr12_76031585_76089685	76068735	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA20752.hp1 HG02257.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0009 a0001c0001t0002 a0001c0002t0009	a0001c0001t0002g0069 a0001c0002t0009g0145 a0001c0001t0002g0069 a0001c0002t0009g0145	2	356	0.0056	20	c.103 others(35): Show c.103+154_103+173dupGTGTGTGTGTGTGTGTGTGT	NAP1L1	ENSG00000187109.15	transcript	ENST00000618691.5	protein_coding	3/14			chr12	TogoVar
NAP1L1_chr12_76031585_76089685	76076549	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01192.hp1 HG01361.hp1 others(3): Show HG00738.hp1 HG01192.hp1 HG01361.hp1 HG01515.hp2 HG01517.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0004 a0001c0003t0005 a0001c0003t0010 others(1): Show a0001c0002t0004 a0001c0003t0005 a0001c0003t0010 a0001c0003t0018	a0001c0002t0004g0316 a0001c0002t0004g0321 a0001c0003t0005g0235 others(2): Show a0001c0002t0004g0316 a0001c0002t0004g0321 a0001c0003t0005g0235 a0001c0003t0010g0025 a0001c0003t0018g0236	6	356	0.0169	20	c.-20 others(37): Show c.-20-2330_-20-2311dupATATATATATATATATATAT	NAP1L1	ENSG00000187109.15	transcript	ENST00000618691.5	protein_coding	1/14			chr12	TogoVar
NAPA_chr19_47482637_47520063	47490646	C C	CAAACAAA others(13): Show CAAACAAAACAAAACAAAACA	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA18952.hp2 HG02015.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	2	338	0.0059	20	c.735 others(35): Show c.735+122_735+141dupTGTTTTGTTTTGTTTTGTTT	NAPA	ENSG00000105402.8	transcript	ENST00000263354.8	protein_coding	9/10			chr19	TogoVar
NAPEPLD_chr7_103094776_103154099	103099575	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0017 a0003c0003t0017	a0003c0003t0017g0280 a0003c0003t0017g0281 a0003c0003t0017g0280 a0003c0003t0017g0281	2	381	0.0053	20	c.38 others(31): Show c.3853_*3854insACACACACACACACACACAC	NAPEPLD	ENSG00000161048.12	transcript	ENST00000465647.6	protein_coding		200		chr7	TogoVar
NAPRT_chr8_143569785_143583330	143573188	C C	CCCGCCCC others(13): Show CCCGCCCCCTGCACGCTGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0015 a0001c0002t0001g0015	1	403	0.0025	20	c.16 others(31): Show c.1649_*1650insAGCCAGCGTGCAGGGGGCGG	NAPRT	ENSG00000147813.16	transcript	ENST00000449291.7	protein_coding		1596		chr8	TogoVar
NAPSA_chr19_50353477_50370639	50369558	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG02015.hp2 NA19012.hp1 HG00673.hp1 HG02015.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	350	0.0086	20	c.-39 others(31): Show c.-3957_-3938dupAAAAAAAAAAAAAAAAAAAA	NAPSA	ENSG00000131400.9	transcript	ENST00000253719.7	protein_coding		3920		chr19	TogoVar
NARF_chr17_82453741_82495537	82471791	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA18960.hp1 NA19009.hp2 others(1): Show HG02818.hp2 NA18960.hp1 NA19009.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0011t0001 a0001c0001t0001 a0001c0011t0001	a0001c0001t0001g0185 a0001c0001t0001g0203 a0001c0001t0001g0229 others(1): Show a0001c0001t0001g0185 a0001c0001t0001g0203 a0001c0001t0001g0229 a0001c0011t0001g0155	4	356	0.0112	20	c.386 others(35): Show c.386-757_386-756insAAAAAAAAAAAAAAAAAAAA	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(13): Show TAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01106.hp1 HG02080.hp2 others(6): Show HG00639.hp1 HG01106.hp1 HG02080.hp2 HG02135.hp1 HG02300.hp1 HG02300.hp2 NA18747.hp2 NA18973.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0010 others(6): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0035 a0001c0001t0001g0109 a0001c0001t0001g0118 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0208	9	356	0.0253	20	c.59 others(31): Show c.5901_*5902insAGAGAGAGAGAGAGAGAGAG	NARF	ENSG00000141562.19	transcript	ENST00000309794.16	protein_coding		3522		chr17	TogoVar
NARS1_chr18_57595656_57626836	57597839	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	420	0.0024	20	c.38 others(31): Show c.3812_*3813insTTTTTTTTTTTTTTTTTTTT	NARS1	ENSG00000134440.12	transcript	ENST00000256854.10	protein_coding		2816		chr18	TogoVar
NARS2_chr11_78430968_78579864	78538994	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	294	0.0034	20	c.595 others(39): Show c.595-10078_595-10059dupTTTTTTTTTTTTTTTTTTTT	NARS2	ENSG00000137513.11	transcript	ENST00000281038.10	protein_coding	5/13			chr11	TogoVar
NARS2_chr11_78430968_78579864	78554508	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG03927.hp2 HG04228.hp1 others(1): Show HG02273.hp2 HG03927.hp2 HG04228.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0074 others(1): Show a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0074 a0001c0001t0001g0075	4	294	0.0136	20	c.594 others(37): Show c.594+5011_594+5030dupACACACACACACACACACAC	NARS2	ENSG00000137513.11	transcript	ENST00000281038.10	protein_coding	5/13			chr11	TogoVar
NASP_chr1_45579041_45623893	45587687	T T	TATATATA others(13): Show TATATATATATATATATAAAA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0192 a0001c0002t0001g0192	1	300	0.0033	20	c.59+ others(35): Show c.59+3483_59+3484insTATATATATATATATAAAAA	NASP	ENSG00000132780.17	transcript	ENST00000350030.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
NASP_chr1_45579041_45623893	45587687	T T	TATATATA others(13): Show TATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02647.hp2 HG03486.hp2 others(10): Show HG02040.hp2 HG02647.hp2 HG03486.hp2 HG03710.hp1 NA18944.hp1 NA18970.hp1 NA18984.hp1 NA19001.hp1 NA19006.hp1 NA19006.hp2 NA19043.hp2 NA19067.hp1 NA19068.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010 a0002c0004 a0008c0014	a0001c0001t0001 a0001c0002t0001 a0001c0003t0002 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0002 a0001c0010t0001 a0002c0004t0001 a0008c0014t0001	a0001c0001t0001g0020 a0001c0001t0001g0046 a0001c0001t0001g0108 others(10): Show a0001c0001t0001g0020 a0001c0001t0001g0046 a0001c0001t0001g0108 a0001c0001t0001g0125 a0001c0002t0001g0176 a0001c0002t0001g0215 a0001c0002t0001g0244 a0001c0002t0001g0277 a0001c0003t0002g0159 a0001c0010t0001g0139 a0002c0004t0001g0182 a0002c0004t0001g0183 a0008c0014t0001g0266	13	300	0.0433	20	c.59+ others(35): Show c.59+3483_59+3484insTATATATATATATATATAAA	NASP	ENSG00000132780.17	transcript	ENST00000350030.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAT16_chr7_101165496_101185293	101184667	G G	GGCCATAC others(13): Show GGCCATACATAGCCTCGCCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0009 a0001c0001t0004g0009	1	422	0.0024	20	c.-46 others(31): Show c.-4631_-4630insATGGCGAGGCTATGTATGGC	NAT16	ENSG00000167011.9	transcript	ENST00000300303.7	protein_coding		4375		chr7	TogoVar
NAT8_chr2_73635723_73647422	73643833	T T	TGTGCGCA others(13): Show TGTGCGCACGTGCGTGCGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	396	0.0025	20	c.-15 others(31): Show c.-1591_-1590insGCGCGCACGCACGTGCGCAC	NAT8	ENSG00000144035.4	transcript	ENST00000272425.4	protein_coding		1412		chr2	TogoVar
NAT8_chr2_73635723_73647422	73643833	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG02071.hp1 HG03490.hp2 others(3): Show HG00621.hp1 HG02071.hp1 HG03490.hp2 HG03492.hp1 NA18980.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	6	396	0.0152	20	c.-15 others(31): Show c.-1591_-1590insGCACACACACACACACACAC	NAT8	ENSG00000144035.4	transcript	ENST00000272425.4	protein_coding		1412		chr2	TogoVar
NAV1_chr1_201534127_201831969	201642511	C C	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG06807.hp2 NA18971.hp1 others(1): Show HG03239.hp1 HG06807.hp2 NA18971.hp1 NA20905.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0007 a0004c0003 others(1): Show a0001c0001 a0001c0007 a0004c0003 a0006c0033	a0001c0001t0002 a0001c0007t0044 a0004c0003t0019 others(1): Show a0001c0001t0002 a0001c0007t0044 a0004c0003t0019 a0006c0033t0001	a0001c0001t0002g0097 a0001c0007t0044g0067 a0004c0003t0019g0166 others(1): Show a0001c0001t0002g0097 a0001c0007t0044g0067 a0004c0003t0019g0166 a0006c0033t0001g0132	4	210	0.0191	20	c.827 others(37): Show c.827-6110_827-6109insCTTTCTTTCTTTCTTTCTTT	NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	4/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV1_chr1_201534127_201831969	201642517	C C	CTTTCTCT others(13): Show CTTTCTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02970.hp2 HG02559.hp1 HG02970.hp2	a0007 a0011 a0007 a0011	a0007c0017 a0011c0032 a0007c0017 a0011c0032	a0007c0017t0027 a0011c0032t0024 a0007c0017t0027 a0011c0032t0024	a0007c0017t0027g0106 a0011c0032t0024g0134 a0007c0017t0027g0106 a0011c0032t0024g0134	2	210	0.0095	20	c.827 others(37): Show c.827-6112_827-6111insCTTTCTTTCTTTCTTTTTCT	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(13): Show TTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp1 HG00280.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0091 a0001c0001t0008 a0001c0001t0091	a0001c0001t0008g0183 a0001c0001t0091g0167 a0001c0001t0008g0183 a0001c0001t0091g0167	2	210	0.0095	20	c.827 others(37): Show c.827-6097_827-6078dupCTTTCTTTCTTTCTTTCTTT	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(13): Show CGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02523.hp1 HG02809.hp2 others(3): Show HG02451.hp2 HG02523.hp1 HG02809.hp2 HG02970.hp1 NA19011.hp2 NA20129.hp2	a0001 a0002 a0017 a0001 a0002 a0017	a0001c0001 a0002c0002 a0017c0028 a0001c0001 a0002c0002 a0017c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0053 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0053 a0001c0001t0071 a0002c0002t0001 a0017c0028t0015	a0001c0001t0001g0128 a0001c0001t0002g0030 a0001c0001t0053g0034 others(3): Show a0001c0001t0001g0128 a0001c0001t0002g0030 a0001c0001t0053g0034 a0001c0001t0071g0209 a0002c0002t0001g0180 a0017c0028t0015g0208	6	210	0.0286	20	c.161 others(39): Show c.1618+1716_1618+1735dupGTGTGTGTGTGTGTGTGTGT	NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV1_chr1_201534127_201831969	201802136	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01069.hp2 HG01123.hp2 others(15): Show HG00733.hp2 HG01069.hp2 HG01123.hp2 HG01255.hp2 HG01257.hp2 HG01361.hp1 HG01496.hp2 HG01975.hp1 HG02129.hp2 HG03239.hp2 HG03491.hp2 HG03834.hp2 HG06807.hp1 NA18940.hp2 NA18960.hp2 NA19005.hp1 NA19088.hp1 NA20129.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0005 others(1): Show a0001c0001 a0002c0002 a0005c0005 a0005c0016	a0001c0001t0002 a0001c0001t0016 a0001c0001t0022 others(9): Show a0001c0001t0002 a0001c0001t0016 a0001c0001t0022 a0001c0001t0055 a0001c0001t0077 a0001c0001t0087 a0002c0002t0001 a0002c0002t0012 a0002c0002t0036 a0002c0002t0058 a0005c0005t0014 a0005c0016t0014	a0001c0001t0002g0029 a0001c0001t0002g0095 a0001c0001t0002g0120 others(15): Show a0001c0001t0002g0029 a0001c0001t0002g0095 a0001c0001t0002g0120 a0001c0001t0002g0138 a0001c0001t0016g0153 a0001c0001t0022g0020 a0001c0001t0055g0155 a0001c0001t0077g0202 a0001c0001t0087g0041 a0002c0002t0001g0091 a0002c0002t0001g0147 a0002c0002t0001g0176 a0002c0002t0001g0180 a0002c0002t0012g0053 a0002c0002t0036g0056 a0002c0002t0058g0144 a0005c0005t0014g0131 a0005c0016t0014g0004	18	210	0.0857	20	c.437 others(39): Show c.4379-1438_4379-1437insAAAAAAAAAAAAAAAAAAAA	NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	19/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV2_chr11_19707837_20126601	19776632	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02559.hp1 HG02602.hp1 others(1): Show HG02071.hp1 HG02559.hp1 HG02602.hp1 NA18979.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0046 a0004c0001 a0005c0083 others(1): Show a0001c0046 a0004c0001 a0005c0083 a0005c0143	a0001c0046t0014 a0004c0001t0006 a0005c0083t0002 others(1): Show a0001c0046t0014 a0004c0001t0006 a0005c0083t0002 a0005c0143t0019	a0001c0046t0014g0101 a0004c0001t0006g0046 a0005c0083t0002g0057 others(1): Show a0001c0046t0014g0101 a0004c0001t0006g0046 a0005c0083t0002g0057 a0005c0143t0019g0114	4	166	0.0241	20	c.268 others(39): Show c.268-55827_268-55808dupTGTGTGTGTGTGTGTGTGTG	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV2_chr11_19707837_20126601	19859137	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0115 a0002c0115	a0002c0115t0006 a0002c0115t0006	a0002c0115t0006g0102 a0002c0115t0006g0102	1	166	0.0060	20	c.439 others(37): Show c.439-9785_439-9766dupTTTTTTTTTTTTTTTTTTTT	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	3/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV2_chr11_19707837_20126601	19897886	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04199.hp1 NA20300.hp2 HG04199.hp1 NA20300.hp2	a0002 a0004 a0002 a0004	a0002c0129 a0004c0136 a0002c0129 a0004c0136	a0002c0129t0004 a0004c0136t0001 a0002c0129t0004 a0004c0136t0001	a0002c0129t0004g0030 a0004c0136t0001g0097 a0002c0129t0004g0030 a0004c0136t0001g0097	2	166	0.0121	20	c.931 others(37): Show c.931+5311_931+5312insATATATATATATATATATAT	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	6/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV2_chr11_19707837_20126601	19944705	T T	TTTCCTTC others(13): Show TTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0060 a0001c0060	a0001c0060t0016 a0001c0060t0016	a0001c0060t0016g0119 a0001c0060t0016g0119	1	166	0.0060	20	c.214 others(39): Show c.2147-1689_2147-1670dupCCTTCCTTCCTTCCTTCCTT	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	8/37		INFO_REALIGN_3_PRIME	chr11	TogoVar

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