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
NFAT5_chr16_69560966_69709654	69571129	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0341 a0001c0001t0048g0341	1	380	0.0026	15	c.127 others(32): Show c.127+2595_127+2609dupAAAAAAAAAAAAAAA	NFAT5	ENSG00000102908.23	transcript	ENST00000349945.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
NFAT5_chr16_69560966_69709654	69661539	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	380	0.0026	15	c.136 others(34): Show c.1369+1654_1369+1668dupAAAAAAAAAAAAAAA	NFAT5	ENSG00000102908.23	transcript	ENST00000349945.7	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
NFAT5_chr16_69560966_69709654	69688202	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02602.hp1 NA18747.hp2 NA18951.hp1 others(1): Show HG02602.hp1 NA18747.hp2 NA18951.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0243 a0001c0001t0005g0247 a0001c0001t0005g0249 others(1): Show a0001c0001t0005g0243 a0001c0001t0005g0247 a0001c0001t0005g0249 a0001c0001t0005g0255	4	380	0.0105	15	c.177 others(34): Show c.1775-2728_1775-2714dupAAAAAAAAAAAAAAA	NFAT5	ENSG00000102908.23	transcript	ENST00000349945.7	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
NFATC1_chr18_79390930_79534323	79395631	C C	CCCCCCTC others(8): Show CCCCCCTCCCCGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0036 a0002c0036	a0002c0036t0012 a0002c0036t0012	a0002c0036t0012g0010 a0002c0036t0012g0010	1	322	0.0031	15	c.-59 others(24): Show c.-594_-593insCCCCCTCCCCGGGCG	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		298		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79488446	G G	GCCACACA others(8): Show GCCACACACTGGAGGC	intron_variant intron_variant	MODIFIER	HG04115.hp1 NA20805.hp2 HG04115.hp1 NA20805.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0002 a0001c0015t0010 a0001c0015t0002 a0001c0015t0010	a0001c0015t0002g0067 a0001c0015t0010g0271 a0001c0015t0002g0067 a0001c0015t0010g0271	2	322	0.0062	15	c.278 others(34): Show c.2782+1512_2782+1526dupACACACTGGAGGCCC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC2_chr20_51381963_51547719	51398541	C C	CAGCCTGT others(8): Show CAGCCTGTCAAGTTTT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG04204.hp1 HG03669.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0038 a0001c0001t0002 a0001c0002t0038	a0001c0001t0002g0107 a0001c0002t0038g0225 a0001c0001t0002g0107 a0001c0002t0038g0225	2	316	0.0063	15	c.44 others(29): Show c.44+87_*44+101dupAAAACTTGACAGGCT	NFATC2	ENSG00000101096.20	transcript	ENST00000371564.8	protein_coding	10/10			chr20	TogoVar
NFATC2_chr20_51381963_51547719	51540647	G G	GTTTTGTT others(8): Show GTTTTGTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0313 a0001c0001t0003g0313	1	316	0.0032	15	c.130 others(32): Show c.130+1722_130+1723insAAAAAAAAAACAAAA	NFATC2	ENSG00000101096.20	transcript	ENST00000371564.8	protein_coding	1/10			chr20	TogoVar
NFATC2_chr20_51381963_51547719	51540647	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02015.hp2 HG02559.hp2 others(16): Show HG00642.hp2 HG02015.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02717.hp2 HG02723.hp2 HG02922.hp2 HG02965.hp1 HG03098.hp1 HG03130.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 NA18522.hp2 NA18941.hp2 NA18963.hp1 NA18992.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0009 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0021 a0001c0001t0029 a0001c0001t0040 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0003t0014 a0001c0003t0017 a0001c0003t0033 a0001c0004t0003 a0001c0007t0026 a0001c0009t0052 a0002c0006t0003 a0002c0006t0027	a0001c0001t0001g0199 a0001c0001t0002g0020 a0001c0001t0008g0247 others(16): Show a0001c0001t0001g0199 a0001c0001t0002g0020 a0001c0001t0008g0247 a0001c0001t0009g0244 a0001c0001t0014g0021 a0001c0001t0021g0240 a0001c0001t0029g0243 a0001c0001t0040g0198 a0001c0002t0001g0238 a0001c0002t0002g0246 a0001c0002t0010g0200 a0001c0003t0014g0241 a0001c0003t0017g0242 a0001c0003t0033g0248 a0001c0004t0003g0201 a0001c0007t0026g0245 a0001c0009t0052g0314 a0002c0006t0003g0239 a0002c0006t0027g0237	19	316	0.0601	15	c.130 others(32): Show c.130+1722_130+1723insAAAAAAAAAAAAAAA	NFATC2	ENSG00000101096.20	transcript	ENST00000371564.8	protein_coding	1/10			chr20	TogoVar
NFATC2_chr20_51381963_51547719	51540663	T T	TTTTTTTG others(8): Show TTTTTTTGTTTGTTTG	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA20129.hp2 HG02258.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0011 a0001c0001t0002 a0001c0002t0011	a0001c0001t0002g0178 a0001c0002t0011g0177 a0001c0001t0002g0178 a0001c0002t0011g0177	2	316	0.0063	15	c.130 others(32): Show c.130+1706_130+1707insCAAACAAACAAAAAA	NFATC2	ENSG00000101096.20	transcript	ENST00000371564.8	protein_coding	1/10			chr20	TogoVar
NFATC2_chr20_51381963_51547719	51540663	T T	TTTTTTTT others(8): Show TTTTTTTTTTTGTTTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02015.hp1 HG02027.hp1 others(4): Show HG00544.hp1 HG02015.hp1 HG02027.hp1 NA18953.hp1 NA18983.hp2 NA18994.hp2 NA19066.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0008c0013 a0001c0001 a0001c0002 a0008c0013	a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 a0001c0001t0022 a0001c0002t0001 a0001c0002t0003 a0008c0013t0001	a0001c0001t0002g0117 a0001c0001t0003g0108 a0001c0001t0016g0113 others(4): Show a0001c0001t0002g0117 a0001c0001t0003g0108 a0001c0001t0016g0113 a0001c0001t0022g0115 a0001c0002t0001g0116 a0001c0002t0003g0114 a0008c0013t0001g0118	7	316	0.0222	15	c.130 others(32): Show c.130+1706_130+1707insCAAACAAAAAAAAAA	NFATC2	ENSG00000101096.20	transcript	ENST00000371564.8	protein_coding	1/10			chr20	TogoVar
NFATC3_chr16_68080370_68234259	68104653	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0019 a0001c0001t0010g0019	1	188	0.0053	15	c.104 others(34): Show c.104-17332_104-17318dupTTTTTTTTTTTTTTT	NFATC3	ENSG00000072736.19	transcript	ENST00000346183.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
NFATC3_chr16_68080370_68234259	68167810	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	188	0.0053	15	c.177 others(32): Show c.1774+820_1774+834dupTTTTTTTTTTTTTTT	NFATC3	ENSG00000072736.19	transcript	ENST00000346183.8	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
NFE2L2_chr2_177225308_177269727	177227963	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp1 NA19030.hp1 NA18952.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0219 a0001c0001t0001g0199 a0001c0001t0001g0219	2	326	0.0061	15	c.28 others(26): Show c.2807_*2821dupTTTTTTTTTTTTTTT	NFE2L2	ENSG00000116044.17	transcript	ENST00000397062.8	protein_coding		2344		chr2	TogoVar
NFIA_chr1_61077561_61467788	61283581	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02622.hp1 HG03453.hp2 HG02602.hp1 HG02622.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0041 a0001c0002t0001 a0001c0001t0041 a0001c0002t0001	a0001c0001t0041g0155 a0001c0002t0001g0064 a0001c0002t0001g0139 a0001c0001t0041g0155 a0001c0002t0001g0064 a0001c0002t0001g0139	3	156	0.0192	15	c.625 others(32): Show c.625+6009_625+6023dupAAAAAAAAAAAAAAA	NFIA	ENSG00000162599.18	transcript	ENST00000403491.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFIA_chr1_61077561_61467788	61306269	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0139 a0001c0002t0001g0139	1	156	0.0064	15	c.626 others(34): Show c.626-26232_626-26218dupTTTTTTTTTTTTTTT	NFIA	ENSG00000162599.18	transcript	ENST00000403491.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFIB_chr9_14076848_14319141	14080447	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	304	0.0033	15	c.78 others(26): Show c.7861_*7862insAAAAAAAAAAAAAAA	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding		1400		chr9	TogoVar
NFIB_chr9_14076848_14319141	14141902	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0044 a0001c0001t0023g0044	1	304	0.0033	15	c.925 others(32): Show c.925+4772_925+4786dupTTTTTTTTTTTTTTT	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	6/10			chr9	TogoVar
NFIB_chr9_14076848_14319141	14217660	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03195.hp1 HG02559.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0060 a0001c0001t0011 a0001c0001t0060	a0001c0001t0011g0147 a0001c0001t0060g0084 a0001c0001t0011g0147 a0001c0001t0060g0084	2	304	0.0066	15	c.563 others(34): Show c.563-37895_563-37881dupTTTTTTTTTTTTTTT	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10			chr9	TogoVar
NFIB_chr9_14076848_14319141	14220886	C C	CACACACA others(8): Show CACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0190 a0001c0001t0018g0190	1	304	0.0033	15	c.563 others(34): Show c.563-41107_563-41106insTGTGTGTGTGTGTGT	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10			chr9	TogoVar
NFIB_chr9_14076848_14319141	14231135	A A	AAATATAT others(8): Show AAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0073 a0001c0001t0017g0073	1	304	0.0033	15	c.563 others(34): Show c.563-51356_563-51355insATATATATATATATT	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10			chr9	TogoVar
NFIB_chr9_14076848_14319141	14231135	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 NA19083.hp2 HG00639.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0111 a0001c0001t0012 a0001c0001t0111	a0001c0001t0012g0242 a0001c0001t0111g0258 a0001c0001t0012g0242 a0001c0001t0111g0258	2	304	0.0066	15	c.563 others(34): Show c.563-51356_563-51355insATATATATATATATA	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10			chr9	TogoVar
NFIC_chr19_3361583_3474217	3371998	C C	CTCTCTCT others(8): Show CTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0189 a0001c0001t0189	a0001c0001t0189g0255 a0001c0001t0189g0255	1	300	0.0033	15	c.30+ others(30): Show c.30+5332_30+5333insTCTCTCTCTCTCTCT	NFIC	ENSG00000141905.19	transcript	ENST00000443272.3	protein_coding	1/10			chr19	TogoVar
NFIC_chr19_3361583_3474217	3430931	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0200 a0002c0003t0200	a0002c0003t0200g0219 a0002c0003t0200g0219	1	300	0.0033	15	c.635 others(32): Show c.635-2586_635-2572dupAAAAAAAAAAAAAAA	NFIC	ENSG00000141905.19	transcript	ENST00000443272.3	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFKB2_chr10_102390705_102407524	102403288	A A	AGGGGGGG others(8): Show AGGGGGGGGGGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	424	0.0024	15	c.91 others(24): Show c.912_*913insGGGGGGGGGGAGGGG	NFKB2	ENSG00000077150.21	transcript	ENST00000661543.1	protein_coding		765		chr10	TogoVar
NFKBIB_chr19_38894969_38913889	38902085	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02615.hp2 HG02717.hp2 others(6): Show HG02559.hp2 HG02615.hp2 HG02717.hp2 HG02965.hp1 HG03225.hp1 NA18969.hp2 NA19043.hp2 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0050 a0001c0001t0001g0052 others(2): Show a0001c0001t0001g0030 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0061 a0001c0001t0001g0136	9	454	0.0198	15	c.179 others(32): Show c.179+1887_179+1888insTTTTTTTTTTTTTTT	NFKBIB	ENSG00000104825.17	transcript	ENST00000313582.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFKBIB_chr19_38894969_38913889	38913768	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 NA18974.hp2 HG00597.hp1 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0046 a0001c0001t0001g0013 a0001c0001t0001g0046	2	454	0.0044	15	c.49 others(26): Show c.4936_*4937insAAAAAAAAAAAAAAA	NFKBIB	ENSG00000104825.17	transcript	ENST00000313582.6	protein_coding		4880		chr19	TogoVar
NFS1_chr20_35663052_35704352	35684411	T T	TAAATAAA others(8): Show TAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03669.hp2 HG03130.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0178 a0001c0001t0001g0105 a0001c0001t0001g0178	2	268	0.0075	15	c.562 others(32): Show c.562-2445_562-2431dupTATTTTATTTTATTT	NFS1	ENSG00000244005.13	transcript	ENST00000374092.9	protein_coding	5/12			chr20	TogoVar
NFU1_chr2_69391126_69442435	69404615	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00621.hp2 HG01515.hp1 others(19): Show HG00544.hp2 HG00621.hp2 HG01515.hp1 HG02630.hp2 HG02818.hp1 HG04228.hp1 NA18942.hp2 NA18943.hp2 NA18946.hp1 NA18952.hp2 NA18956.hp2 NA18963.hp1 NA18980.hp1 NA18988.hp2 NA18992.hp2 NA19010.hp1 NA19011.hp2 NA19056.hp1 NA19065.hp2 NA19070.hp2 NA19084.hp1 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0012 others(19): Show a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0073 a0001c0001t0001g0138 a0002c0002t0001g0255 a0002c0002t0001g0259 a0002c0002t0001g0346	22	368	0.0598	15	c.545 others(32): Show c.545+1392_545+1406dupAAAAAAAAAAAAAAA	NFU1	ENSG00000169599.13	transcript	ENST00000410022.7	protein_coding	6/7			chr2	TogoVar
NFU1_chr2_69391126_69442435	69424198	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0354 a0001c0001t0001g0354	1	368	0.0027	15	c.167 others(30): Show c.167-482_167-481insATATATATATATATA	NFU1	ENSG00000169599.13	transcript	ENST00000410022.7	protein_coding	2/7			chr2	TogoVar
NFYC_chr1_40686704_40776603	40703480	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01106.hp2 HG01192.hp1 others(11): Show HG00597.hp1 HG01106.hp2 HG01192.hp1 HG01358.hp1 HG02056.hp1 HG02109.hp1 HG02135.hp1 HG04184.hp1 NA18943.hp1 NA18967.hp2 NA18972.hp1 NA18979.hp2 NA18989.hp1 NA19089.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0009 a0001c0002t0001 a0001c0002t0009	a0001c0002t0001g0093 a0001c0002t0001g0192 a0001c0002t0001g0193 others(11): Show a0001c0002t0001g0093 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0263 a0001c0002t0001g0291 a0001c0002t0009g0284	14	332	0.0422	15	c.-9+ others(32): Show c.-9+11627_-9+11628insAAAAAAAAAAAAAAA	NFYC	ENSG00000066136.21	transcript	ENST00000447388.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFYC_chr1_40686704_40776603	40776005	A A	AAAAAGAA others(8): Show AAAAAGAAAAGAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG01243.hp2 HG01884.hp1 others(26): Show HG00280.hp2 HG01243.hp2 HG01884.hp1 HG01952.hp2 HG01981.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02683.hp2 HG02809.hp1 HG02970.hp1 HG03098.hp1 HG03209.hp2 HG03540.hp2 HG04199.hp1 NA18945.hp1 NA18957.hp1 NA18968.hp1 NA18991.hp1 NA18993.hp2 NA18999.hp1 NA19004.hp1 NA19054.hp2 NA19060.hp1 NA19068.hp1 NA19070.hp2 NA19079.hp2 NA19082.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0001	a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0130 others(24): Show a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0015 a0001c0001t0002g0037 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0048 a0001c0001t0002g0051 a0001c0001t0002g0058 a0001c0001t0002g0065 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0086 a0001c0001t0002g0091 a0001c0001t0006g0050 a0001c0002t0001g0011 a0001c0002t0001g0161 a0001c0002t0001g0179 a0001c0002t0001g0181 a0001c0002t0001g0314 a0001c0002t0001g0315	29	332	0.0874	15	c.51 others(26): Show c.5177_*5178insAAAAGAAAAGAAAAG	NFYC	ENSG00000066136.21	transcript	ENST00000447388.8	protein_coding		4403		chr1	TogoVar
NGB_chr14_77260483_77276206	77269792	T T	TCTCCTCT others(8): Show TCTCCTCTCCCCCCCG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	366	0.0027	15	c.90- others(28): Show c.90-467_90-466insCGGGGGGGAGAGGAG	NGB	ENSG00000165553.5	transcript	ENST00000298352.5	protein_coding	1/3			chr14	TogoVar
NGEF_chr2_232873701_233018256	232964419	G G	GTGGTGGC others(8): Show GTGGTGGCTCGCACCT	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0233 a0001c0001t0009g0233	1	362	0.0028	15	c.383 others(32): Show c.383+5794_383+5795insAGGTGCGAGCCACCA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	3/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232968093	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0117 a0001c0005t0001g0117	1	362	0.0028	15	c.383 others(32): Show c.383+2120_383+2121insAAAAAAAAAAAAAAA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	3/14			chr2	TogoVar
NGF_chr1_115280917_115343249	115304329	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02976.hp2 HG03688.hp2 others(1): Show HG02071.hp2 HG02976.hp2 HG03688.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0274 a0001c0001t0001g0303 a0001c0001t0001g0305 others(1): Show a0001c0001t0001g0274 a0001c0001t0001g0303 a0001c0001t0001g0305 a0002c0002t0001g0296	4	418	0.0096	15	c.-13 others(36): Show c.-136-10594_-136-10580dupAAAAAAAAAAAAAAA	NGF	ENSG00000134259.6	transcript	ENST00000369512.3	protein_coding	1/2			chr1	TogoVar
NGF_chr1_115280917_115343249	115337267	G G	GTTTGTTT others(8): Show GTTTGTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA19079.hp1 NA18966.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0170 a0001c0001t0001g0014 a0001c0001t0001g0170	2	418	0.0048	15	c.-13 others(32): Show c.-137+936_-137+937insAAAAAAAAAAACAAA	NGF	ENSG00000134259.6	transcript	ENST00000369512.3	protein_coding	1/2			chr1	TogoVar
NHEJ1_chr2_219064357_219165815	219115153	A A	AAAGAAGA others(8): Show AAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0165 a0001c0001t0005g0165	1	350	0.0029	15	c.588 others(34): Show c.588+31512_588+31526dupCTTCTTCTTCTTCTT	NHEJ1	ENSG00000187736.14	transcript	ENST00000356853.10	protein_coding	5/7			chr2	TogoVar
NHLRC4_chr16_562005_574495	567760	T T	TAGCACGT others(8): Show TAGCACGTGGACACAG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0001 a0001c0001t0015g0001	1	424	0.0024	15	c.-28 others(24): Show c.-288_-287insAGCACGTGGACACAG	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding	2/2	287		chr16	TogoVar
NHLRC4_chr16_562005_574495	569822	T T	TGGCGGCC others(8): Show TGGCGGCCCGGAGGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(228): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00673.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01433.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18956.hp1 NA18956.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19056.hp2 NA19057.hp2 NA19059.hp1 NA19059.hp2 NA19064.hp2 NA19066.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20300.hp1 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0003g0001 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0003g0001 a0001c0001t0005g0002 a0001c0001t0007g0001 a0001c0001t0008g0001 a0001c0001t0009g0001 a0001c0001t0013g0001 a0001c0001t0014g0001 a0002c0002t0001g0002	231	424	0.5448	15	c.14 others(26): Show c.1403_*1404insGGCGGCCCGGAGGCA	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		328		chr16	TogoVar
NHLRC4_chr16_562005_574495	569822	T T	TGGCGGCC others(8): Show TGGCGGCCTGGAGGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	15	c.14 others(26): Show c.1403_*1404insGGCGGCCTGGAGGCA	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		328		chr16	TogoVar
NHLRC4_chr16_562005_574495	571095	G G	GTGTGTCT others(8): Show GTGTGTCTGCCTAGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG02615.hp1 NA19087.hp1 HG01433.hp1 HG02615.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0001g0001 a0001c0001t0002g0001	3	424	0.0071	15	c.26 others(26): Show c.2676_*2677insTGTGTCTGCCTAGCC	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1601		chr16	TogoVar
NHLRC4_chr16_562005_574495	571095	G G	GTGTGTCT others(8): Show GTGTGTCTGGCTAGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01978.hp2 HG02559.hp1 others(2): Show HG01496.hp1 HG01978.hp2 HG02559.hp1 HG03710.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	5	424	0.0118	15	c.26 others(26): Show c.2676_*2677insTGTGTCTGGCTAGCC	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1601		chr16	TogoVar
NHSL1_chr6_138417043_138504494	138423815	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02148.hp2 HG03834.hp1 HG02148.hp2 HG03834.hp1	a0001 a0001	a0001c0020 a0001c0034 a0001c0020 a0001c0034	a0001c0020t0049 a0001c0034t0031 a0001c0020t0049 a0001c0034t0031	a0001c0020t0049g0104 a0001c0034t0031g0026 a0001c0020t0049g0104 a0001c0034t0031g0026	2	332	0.0060	15	c.25 others(24): Show c.251_*265dupTTTTTTTTTTTTTTT	NHSL1	ENSG00000135540.12	transcript	ENST00000343505.10	protein_coding	8/8	265		chr6	TogoVar
NHSL2_chrX_71905845_72158286	72039062	T T	TTTTCCTT others(8): Show TTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	187	0.0054	15	c.281 others(34): Show c.281-93013_281-93012insCTTTCCTTTCCTTTC	NHSL2	ENSG00000204131.11	transcript	ENST00000633930.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
NHSL2_chrX_71905845_72158286	72039067	T T	TTTTCCTT others(8): Show TTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01515.hp1 HG01934.hp1 others(16): Show HG00642.hp1 HG01515.hp1 HG01934.hp1 HG02132.hp1 HG02145.hp1 HG03490.hp1 HG03492.hp1 HG03710.hp1 HG04199.hp1 NA18940.hp1 NA18965.hp1 NA18979.hp2 NA18983.hp1 NA19065.hp1 NA19065.hp2 NA19074.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0001c0012 others(2): Show a0001c0001 a0001c0003 a0001c0012 a0002c0002 a0005c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0016 a0001c0001t0025 a0001c0001t0027 a0001c0001t0042 a0001c0001t0048 a0001c0001t0062 a0001c0001t0069 a0001c0003t0011 a0001c0012t0003 a0002c0002t0007 a0002c0002t0059 a0002c0002t0076 a0005c0006t0058	a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0024 others(16): Show a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0094 a0001c0001t0003g0016 a0001c0001t0004g0131 a0001c0001t0016g0175 a0001c0001t0025g0015 a0001c0001t0027g0025 a0001c0001t0042g0109 a0001c0001t0048g0168 a0001c0001t0062g0036 a0001c0001t0069g0048 a0001c0003t0011g0155 a0001c0012t0003g0169 a0002c0002t0007g0106 a0002c0002t0059g0029 a0002c0002t0076g0075 a0005c0006t0058g0079	19	187	0.1016	15	c.281 others(34): Show c.281-92944_281-92930dupTCCTTTCCTTTCCTT	NHSL2	ENSG00000204131.11	transcript	ENST00000633930.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
NHSL2_chrX_71905845_72158286	72049009	A A	AGAAGAAG others(8): Show AGAAGAAGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0050 a0001c0001t0003g0050	1	187	0.0054	15	c.281 others(34): Show c.281-83065_281-83064insAGAGGAAGAGGAAGA	NHSL2	ENSG00000204131.11	transcript	ENST00000633930.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
NHS_chrX_17370200_17740994	17425568	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0003 a0004c0005t0003	a0004c0005t0003g0100 a0004c0005t0003g0100	1	164	0.0061	15	c.565 others(34): Show c.565+49249_565+49250insAAAAAAAAAAAGAAA	NHS	ENSG00000188158.17	transcript	ENST00000676302.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
NHS_chrX_17370200_17740994	17572491	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02630.hp1 HG01243.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0146 a0001c0001t0002g0099 a0001c0001t0002g0146	2	164	0.0122	15	c.566 others(36): Show c.566-115243_566-115229dupTTTTTTTTTTTTTTT	NHS	ENSG00000188158.17	transcript	ENST00000676302.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
NHS_chrX_17370200_17740994	17585738	G G	GTAATAAT others(8): Show GTAATAATAATAATAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	164	0.0061	15	c.566 others(36): Show c.566-101988_566-101974dupTAATAATAATAATAA	NHS	ENSG00000188158.17	transcript	ENST00000676302.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
NHS_chrX_17370200_17740994	17723726	G G	GTGTGTGT others(8): Show GTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	164	0.0061	15	c.110 others(32): Show c.1109-573_1109-572insTGTGTGTGTGTGTGT	NHS	ENSG00000188158.17	transcript	ENST00000676302.1	protein_coding	5/8			chrX	TogoVar

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