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
NEK4_chr3_52703444_52775940	52752933	T T	TATACACA others(25): Show TATACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0178 a0001c0001t0008g0178	1	141	0.0071	32	c.964 others(47): Show c.964-598_964-597insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT AT	NEK4	ENSG00000114904.13	transcript	ENST00000233027.10	protein_coding	6/15			chr3	TogoVar
NEK7_chr1_198151998_198327420	198197544	T T	TCCCCCCC others(25): Show TCCCCCCCCCCCCCCCCCCCCTGCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0166 a0001c0001t0003g0166	1	344	0.0029	32	c.-28 others(51): Show c.-28-35005_-28-35004insCCCCCCCCCCCCCCCCTGCCCCCCCC CCCCCC	NEK7	ENSG00000151414.15	transcript	ENST00000367385.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NELFB_chr9_137250327_137278542	137278035	G G	GAATTCGG others(25): Show GAATTCGGTTGTACTGGAGGGGTGTTGGGAGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0213 a0001c0002t0011g0213	1	362	0.0028	32	c.51 others(43): Show c.5107_*5108insAATTCGGTTGTACTGGAGGGGTGTTGGGAGGT	NELFB	ENSG00000188986.9	transcript	ENST00000343053.6	protein_coding		4494		chr9	TogoVar
NELL1_chr11_20664586_21580686	20721181	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03130.hp2 HG02055.hp1 HG03130.hp2	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0001 a0001c0006t0001 a0001c0005t0001 a0001c0006t0001	a0001c0005t0001g0025 a0001c0006t0001g0039 a0001c0005t0001g0025 a0001c0006t0001g0039	2	16	0.1250	32	c.184 others(51): Show c.184+43137_184+43138insTATATATATATATATATATATATATA TATATA	NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NELL1_chr11_20664586_21580686	20915699	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0003 a0003	a0003c0020 a0003c0020	a0003c0020t0001 a0003c0020t0001	a0003c0020t0001g0075 a0003c0020t0001g0075	1	80	0.0125	32	c.604 others(49): Show c.604-2483_604-2482insTATATATATATATATATATATATATATA TATA	NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	5/19			chr11	TogoVar
NELL1_chr11_20664586_21580686	20970053	G G	GTCCGTCC others(25): Show GTCCGTCCGTCCATCCATCCATCCATCCATCCA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0082 a0001c0006t0002g0082	1	36	0.0278	32	c.130 others(51): Show c.1300+9496_1300+9497insGTCCGTCCATCCATCCATCCATCCAT CCATCC	NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NELL1_chr11_20664586_21580686	21232157	A A	ATAAAAAA others(25): Show ATAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0053 a0002c0002t0001g0053	1	80	0.0125	32	c.154 others(51): Show c.1549+2703_1549+2704insTAAAAAAAAAATATATATATATATAT ATATAT	NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	14/19			chr11	TogoVar
NELL1_chr11_20664586_21580686	21232157	A A	ATAAAAAA others(25): Show ATAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0087 a0001c0004t0001g0087	1	80	0.0125	32	c.154 others(51): Show c.1549+2703_1549+2704insTAAAAAAAATATATATATATATATAT ATATAT	NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	14/19			chr11	TogoVar
NELL2_chr12_44503278_44881315	44503808	T T	TATATATA others(25): Show TATATATATATGCATATATATATATATATATGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG03516.hp2 HG01891.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0125 a0001c0001t0001g0075 a0001c0001t0001g0125	2	149	0.0134	32	c.51 others(43): Show c.5125_*5126insGCATATATATATATATATATGCATATATATAT	NELL2	ENSG00000184613.11	transcript	ENST00000429094.7	protein_coding		4469		chr12	TogoVar
NELL2_chr12_44503278_44881315	44587284	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	79	0.0127	32	c.166 others(53): Show c.1663+19884_1663+19885insATATATATATATATATATTTTTTT TTTTTTTT	NELL2	ENSG00000184613.11	transcript	ENST00000429094.7	protein_coding	15/19			chr12	TogoVar
NELL2_chr12_44503278_44881315	44587284	A A	AAAAAAAA others(25): Show AAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	79	0.0127	32	c.166 others(53): Show c.1663+19884_1663+19885insATATATATATATATATATATATTT TTTTTTTT	NELL2	ENSG00000184613.11	transcript	ENST00000429094.7	protein_coding	15/19			chr12	TogoVar
NELL2_chr12_44503278_44881315	44842109	G G	GAGGGAGG others(25): Show GAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0009 a0001c0001t0004g0009	1	28	0.0357	32	c.185 others(51): Show c.185-25974_185-25973insTCCTTCCTTCCTTCCTTCCTCCCTCC CTCCCT	NELL2	ENSG00000184613.11	transcript	ENST00000429094.7	protein_coding	2/19			chr12	TogoVar
NELL2_chr12_44503278_44881315	44842109	G G	GAGGGAGG others(25): Show GAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	28	0.0357	32	c.185 others(51): Show c.185-25974_185-25973insTCCTTCCTTCCTTCCTCCCTCCCTCC CTCCCT	NELL2	ENSG00000184613.11	transcript	ENST00000429094.7	protein_coding	2/19			chr12	TogoVar
NELL2_chr12_44503278_44881315	44842109	G G	GAGGGAGG others(25): Show GAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02559.hp2 HG01243.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0097 a0001c0001t0002g0062 a0001c0001t0001g0097 a0001c0001t0002g0062	2	29	0.0690	32	c.185 others(51): Show c.185-25974_185-25973insTCCTTCCTTCCTCCCTCCCTCCCTCC CTCCCT	NELL2	ENSG00000184613.11	transcript	ENST00000429094.7	protein_coding	2/19			chr12	TogoVar
NELL2_chr12_44503278_44881315	44842109	G G	GAGGGAGG others(25): Show GAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02615.hp2 HG02896.hp1 others(3): Show HG01167.hp1 HG02615.hp2 HG02896.hp1 HG02897.hp2 HG03195.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0115 a0001c0001t0001g0154 a0001c0001t0001g0155 others(3): Show a0001c0001t0001g0115 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0002g0114 a0001c0001t0002g0116	6	33	0.1818	32	c.185 others(51): Show c.185-25974_185-25973insTCCTTCCTCCCTCCCTCCCTCCCTCC CTCCCT	NELL2	ENSG00000184613.11	transcript	ENST00000429094.7	protein_coding	2/19			chr12	TogoVar
NEMP1_chr12_57050643_57083791	57080356	A A	ATCAACTG others(25): Show ATCAACTGAGGTCAGGAGTTCGAGACCAGCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0139 a0002c0003t0005g0139	1	396	0.0025	32	c.-16 others(43): Show c.-1643_-1612dupCAGGCTGGTCTCGAACTCCTGACCTCAGTTGA	NEMP1	ENSG00000166881.10	transcript	ENST00000300128.9	protein_coding		1566		chr12	TogoVar
NEO1_chr15_73047463_73310205	73257132	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG04115.hp2 HG02027.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0003 a0001c0007t0004 a0001c0001t0003 a0001c0007t0004	a0001c0001t0003g0249 a0001c0007t0004g0216 a0001c0001t0003g0249 a0001c0007t0004g0216	2	5	0.4000	32	c.209 others(51): Show c.2093-1613_2093-1612insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	NEO1	ENSG00000067141.17	transcript	ENST00000261908.11	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr15	TogoVar
NEO1_chr15_73047463_73310205	73295125	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA19011.hp1 NA18941.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0075 a0001c0001t0005g0153 a0001c0001t0002g0075 a0001c0001t0005g0153	2	195	0.0103	32	c.390 others(51): Show c.3901+1595_3901+1596insATATATATATATATATATATATATAT ATATAT	NEO1	ENSG00000067141.17	transcript	ENST00000261908.11	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr15	TogoVar
NETO2_chr16_47072703_47148945	47115697	T T	TTATATAT others(25): Show TTATATATATATATATACATATATATATATACA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0117 a0001c0001t0002g0117	1	164	0.0061	32	c.655 others(49): Show c.655-5987_655-5986insTGTATATATATATATGTATATATATATA TATA	NETO2	ENSG00000171208.10	transcript	ENST00000562435.6	protein_coding	6/8			chr16	TogoVar
NETO2_chr16_47072703_47148945	47115714	C C	CATATATA others(25): Show CATATATATATATATATATATATATGTATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02559.hp2 HG02109.hp1 HG02559.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0019 a0002c0002t0006g0021 a0002c0002t0006g0019 a0002c0002t0006g0021	2	156	0.0128	32	c.655 others(49): Show c.655-6004_655-6003insATATATACATATATATATATATATATAT ATAT	NETO2	ENSG00000171208.10	transcript	ENST00000562435.6	protein_coding	6/8			chr16	TogoVar
NETO2_chr16_47072703_47148945	47115716	T T	TATATATA others(25): Show TATATATATATACATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0134 a0001c0001t0002g0134	1	134	0.0075	32	c.655 others(49): Show c.655-6006_655-6005insGTATATATATATATATATATGTATATAT ATAT	NETO2	ENSG00000171208.10	transcript	ENST00000562435.6	protein_coding	6/8			chr16	TogoVar
NEURL1B_chr5_172636263_172696540	172667275	T T	TAAAAAAA others(25): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01346.hp1 HG01517.hp1 others(2): Show HG00639.hp2 HG01346.hp1 HG01517.hp1 HG01891.hp2 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0043 a0001c0001t0001g0053 a0001c0001t0001g0054 others(2): Show a0001c0001t0001g0043 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0072 a0001c0001t0017g0260	5	84	0.0595	32	c.32- others(47): Show c.32-2489_32-2488insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	NEURL1B	ENSG00000214357.9	transcript	ENST00000369800.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
NEURL1_chr10_103488705_103597546	103596663	A A	ACACACAC others(25): Show ACACACACACACACACACACACACACACACTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0141 a0001c0002t0004g0141	1	107	0.0093	32	c.62 others(43): Show c.6291_*6292insCACACACACACACACACACACACACACACTCT	NEURL1	ENSG00000107954.11	transcript	ENST00000369780.9	protein_coding		4118		chr10	TogoVar
NEURL1_chr10_103488705_103597546	103596663	A A	ACACACAC others(25): Show ACACACACACACACACACACACACACACTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0132 a0001c0002t0004g0132	1	107	0.0093	32	c.62 others(43): Show c.6291_*6292insCACACACACACACACACACACACACACTCTCT	NEURL1	ENSG00000107954.11	transcript	ENST00000369780.9	protein_coding		4118		chr10	TogoVar
NEUROD6_chr7_31332465_31345726	31334249	G G	GCTTTCTT others(25): Show GCTTTCTTGCTTTCTTTCTTTCTTTCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	279	0.0036	32	c.40 others(43): Show c.4005_*4006insAAAGAAAGAAAGAAAGAAAGAAAGCAAGAAAG	NEUROD6	ENSG00000164600.7	transcript	ENST00000297142.4	protein_coding		3215		chr7	TogoVar
NEXN_chr1_77883624_77948895	77883780	C C	CCTCAGCC others(25): Show CCTCAGCCTCCTGAGTAGCTGGGATTACAGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	266	0.0038	32	c.-50 others(43): Show c.-5032_-5031insCTCAGCCTCCTGAGTAGCTGGGATTACAGACA	NEXN	ENSG00000162614.19	transcript	ENST00000334785.12	protein_coding		4843		chr1	TogoVar
NF1_chr17_31089977_31382675	31226318	G G	GACACACA others(25): Show GACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA19011.hp2 HG00597.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0091 a0001c0001t0001g0070 a0001c0001t0001g0091	2	20	0.1000	32	c.200 others(48): Show c.2002-107_2002-76dupCACACACACACACACACACACACACACAC ACA	NF1	ENSG00000196712.20	transcript	ENST00000358273.9	protein_coding	17/57		INFO_REALIGN_3_PRIME	chr17	TogoVar
NF1_chr17_31089977_31382675	31243184	C C	CTGTGTGT others(25): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	88	0.0114	32	c.397 others(51): Show c.3975-5771_3975-5770insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	NF1	ENSG00000196712.20	transcript	ENST00000358273.9	protein_coding	29/57		INFO_REALIGN_3_PRIME	chr17	TogoVar
NFASC_chr1_204823652_205027822	204926406	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0201 a0001c0004t0005g0201	1	178	0.0056	32	c.-91 others(49): Show c.-91+5667_-91+5668insATATATATATATATATATATATATTTTT TTTT	NFASC	ENSG00000163531.17	transcript	ENST00000339876.11	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFASC_chr1_204865862_205027822	204926406	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0190 a0001c0002t0003g0190	1	211	0.0047	32	c.-90 others(51): Show c.-90-17819_-90-17818insATATATATATATATATATATATATTT TTTTTT	NFASC	ENSG00000163531.17	transcript	ENST00000539706.6	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFAT5_chr16_69560966_69709654	69568346	A A	ATATGTGT others(25): Show ATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02965.hp2 NA18956.hp1 HG00639.hp2 HG02965.hp2 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0297 a0001c0001t0001g0306 a0001c0001t0001g0283 a0001c0001t0001g0297 a0001c0001t0001g0306	3	126	0.0238	32	c.74- others(45): Show c.74-148_74-147insATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	NFAT5	ENSG00000102908.23	transcript	ENST00000349945.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
NFAT5_chr16_69560966_69709654	69688202	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02071.hp2 NA18965.hp2 NA19082.hp1 HG02071.hp2 NA18965.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0195 a0001c0001t0004g0059 a0001c0001t0004g0140 a0001c0001t0003g0195 a0001c0001t0004g0059 a0001c0001t0004g0140	3	176	0.0170	32	c.177 others(51): Show c.1775-2714_1775-2713insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	NFAT5	ENSG00000102908.23	transcript	ENST00000349945.7	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
NFATC1_chr18_79390930_79534323	79424881	C C	CCGTCTCT others(25): Show CCGTCTCTGTTTCTCTCTCTGTTTCTCTCTCTG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00733.hp2 HG00741.hp1 others(20): Show HG00323.hp2 HG00733.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01261.hp1 HG01496.hp1 HG01517.hp2 HG01928.hp2 HG01975.hp2 HG02148.hp2 HG02300.hp2 HG02486.hp2 HG03239.hp1 HG03491.hp1 HG03492.hp2 HG06807.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0027 a0001c0029 a0001c0045 others(4): Show a0001c0027 a0001c0029 a0001c0045 a0001c0053 a0003c0007 a0003c0016 a0003c0032	a0001c0027t0008 a0001c0029t0004 a0001c0045t0001 others(9): Show a0001c0027t0008 a0001c0029t0004 a0001c0045t0001 a0001c0053t0003 a0003c0007t0001 a0003c0007t0002 a0003c0007t0003 a0003c0007t0008 a0003c0007t0024 a0003c0016t0002 a0003c0016t0007 a0003c0032t0007	a0001c0027t0008g0013 a0001c0027t0008g0030 a0001c0029t0004g0096 others(20): Show a0001c0027t0008g0013 a0001c0027t0008g0030 a0001c0029t0004g0096 a0001c0029t0004g0098 a0001c0045t0001g0214 a0001c0053t0003g0183 a0003c0007t0001g0206 a0003c0007t0002g0014 a0003c0007t0002g0021 a0003c0007t0002g0025 a0003c0007t0003g0182 a0003c0007t0008g0017 a0003c0007t0008g0019 a0003c0007t0008g0020 a0003c0007t0008g0029 a0003c0007t0008g0031 a0003c0007t0008g0032 a0003c0007t0024g0149 a0003c0016t0002g0026 a0003c0016t0002g0027 a0003c0016t0002g0028 a0003c0016t0007g0018 a0003c0032t0007g0024	23	320	0.0719	32	c.122 others(51): Show c.1227-8698_1227-8697insCGTCTCTGTTTCTCTCTCTGTTTCTC TCTCTG	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	2/9			chr18	TogoVar
NFATC1_chr18_79390930_79534323	79455746	T T	TCACGGCC others(25): Show TCACGGCCGCCCCATCCCACGGCCGCCCCATCC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02698.hp1 HG04115.hp2 HG00423.hp2 HG02698.hp1 HG04115.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0001c0021 a0002c0002 a0001c0006 a0001c0021 a0002c0002	a0001c0006t0002 a0001c0021t0003 a0002c0002t0015 a0001c0006t0002 a0001c0021t0003 a0002c0002t0015	a0001c0006t0002g0097 a0001c0021t0003g0164 a0002c0002t0015g0251 a0001c0006t0002g0097 a0001c0021t0003g0164 a0002c0002t0015g0251	3	10	0.3000	32	c.190 others(51): Show c.1903+3963_1903+3994dupCACGGCCGCCCCATCCCACGGCCGCC CCATCC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79464666	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTACGTATATATATACACACA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0003 a0003c0007t0003	a0003c0007t0003g0182 a0003c0007t0003g0182	1	320	0.0031	32	c.196 others(51): Show c.1960-2779_1960-2778insGTGTGTGTACGTATATATATACACAC ATGTGT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79464670	G G	GTGTGTGT others(25): Show GTGTGTGTGTACGTATATATATACACACATGTA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01106.hp1 others(6): Show HG01069.hp1 HG01071.hp2 HG01106.hp1 HG01261.hp1 HG01928.hp2 HG02300.hp2 HG03239.hp1 HG06807.hp2 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0053 a0003c0007 a0003c0016 others(1): Show a0001c0053 a0003c0007 a0003c0016 a0003c0032	a0001c0053t0003 a0003c0007t0002 a0003c0007t0008 others(4): Show a0001c0053t0003 a0003c0007t0002 a0003c0007t0008 a0003c0007t0024 a0003c0016t0002 a0003c0016t0007 a0003c0032t0007	a0001c0053t0003g0183 a0003c0007t0002g0021 a0003c0007t0008g0019 others(6): Show a0001c0053t0003g0183 a0003c0007t0002g0021 a0003c0007t0008g0019 a0003c0007t0024g0149 a0003c0016t0002g0026 a0003c0016t0002g0027 a0003c0016t0002g0028 a0003c0016t0007g0018 a0003c0032t0007g0024	9	309	0.0291	32	c.196 others(51): Show c.1960-2779_1960-2778insGTGTGTGTACGTATATATATACACAC ATGTAT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFE2L3_chr7_26147198_26192137	26182368	A A	AATCCCAA others(25): Show AATCCCAACTCTTTGTGAGGCCAAGGCAGGTGG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG02109.hp2 others(6): Show HG01069.hp2 HG01071.hp1 HG02109.hp2 HG02723.hp1 HG02896.hp1 HG02965.hp1 HG03041.hp1 HG03453.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0024 a0001c0002t0001 a0001c0002t0024	a0001c0002t0001g0009 a0001c0002t0001g0042 a0001c0002t0001g0044 others(2): Show a0001c0002t0001g0009 a0001c0002t0001g0042 a0001c0002t0001g0044 a0001c0002t0001g0151 a0001c0002t0024g0043	9	398	0.0226	32	c.751 others(49): Show c.751-1329_751-1298dupCCAACTCTTTGTGAGGCCAAGGCAGGTG GATC	NFE2L3	ENSG00000050344.9	transcript	ENST00000056233.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
NFIA_chr1_61077561_61467788	61310764	T T	TTTCCTTC others(25): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01167.hp2 HG01516.hp2 others(8): Show HG00099.hp1 HG01167.hp2 HG01516.hp2 HG02027.hp1 HG02280.hp1 HG03041.hp1 HG03516.hp2 HG04204.hp2 NA18973.hp2 NA19002.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0014 a0001c0001t0025 a0001c0001t0056 a0001c0002t0001	a0001c0001t0001g0015 a0001c0001t0002g0057 a0001c0001t0004g0081 others(8): Show a0001c0001t0001g0015 a0001c0001t0002g0057 a0001c0001t0004g0081 a0001c0001t0010g0040 a0001c0001t0010g0071 a0001c0001t0014g0128 a0001c0001t0025g0002 a0001c0001t0056g0093 a0001c0002t0001g0074 a0001c0002t0001g0077 a0001c0002t0001g0090	11	87	0.1264	32	c.626 others(51): Show c.626-21746_626-21715dupTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCT	NFIA	ENSG00000162599.18	transcript	ENST00000403491.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFIA_chr1_61077561_61467788	61466738	C C	CACACACA others(25): Show CACACACACACACATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0047 a0001c0001t0008g0047	1	49	0.0204	32	c.11 others(45): Show c.11418_*11419insACACACACACACATATATATATATATATATAT	NFIA	ENSG00000162599.18	transcript	ENST00000403491.8	protein_coding		3951		chr1	TogoVar
NFIC_chr19_3361583_3474217	3467758	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02818.hp2 HG03130.hp1 NA18747.hp2 HG02818.hp2 HG03130.hp1 NA18747.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0189 a0002c0003t0200 a0002c0003t0206 a0001c0001t0189 a0002c0003t0200 a0002c0003t0206	a0001c0001t0189g0132 a0002c0003t0200g0113 a0002c0003t0206g0188 a0001c0001t0189g0132 a0002c0003t0200g0113 a0002c0003t0206g0188	3	54	0.0556	32	c.50 others(43): Show c.5020_*5021insTATATATATATATATATATATATATATATATA	NFIC	ENSG00000141905.19	transcript	ENST00000443272.3	protein_coding	11/11	5021	INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8653038	T T	TTCTTTCT others(25): Show TTCTTTCTTTCTTTCTTTCTCTCTCCCTCTCTC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0030 a0001c0001t0004g0030	1	270	0.0037	32	c.-16 others(53): Show c.-164+17295_-164+17296insTTCTTTCTTTCTTTCTCTCTCCCT CTCTCTCT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8663732	G G	GTGTGTAT others(25): Show GTGTGTATGTGTGTGTGTGTGTATGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02723.hp2 HG03239.hp2 others(1): Show HG02145.hp1 HG02723.hp2 HG03239.hp2 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0005 a0001c0001t0150 a0002c0002t0013 others(1): Show a0001c0001t0005 a0001c0001t0150 a0002c0002t0013 a0003c0003t0006	a0001c0001t0005g0028 a0001c0001t0150g0128 a0002c0002t0013g0351 others(1): Show a0001c0001t0005g0028 a0001c0001t0150g0128 a0002c0002t0013g0351 a0003c0003t0006g0307	4	363	0.0110	32	c.-16 others(53): Show c.-163-10814_-163-10813insATGTGTGTGTGTGTGTATGTGTGT GTATGTGT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8663740	G G	GTGTGTGT others(25): Show GTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04228.hp2 HG04115.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0027 a0001c0001t0004 a0001c0001t0027	a0001c0001t0004g0209 a0001c0001t0027g0238 a0001c0001t0004g0209 a0001c0001t0027g0238	2	362	0.0055	32	c.-16 others(53): Show c.-163-10802_-163-10801insATGTGTGTGTGTGTGTGTGTGTAT GTGTGTGT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8663750	G G	GTATGTGT others(25): Show GTATGTGTGTGTGTGTGTGTGTGTATGTGTGTA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0092 a0001c0001t0051g0092	1	266	0.0038	32	c.-16 others(53): Show c.-163-10800_-163-10799insATGTGTGTGTGTGTGTGTGTGTAT GTGTGTAT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8663750	G G	GTGTATGT others(25): Show GTGTATGTGTGTGTATGTGTGTGTATGTGTGTA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0010 a0010	a0010c0009 a0010c0009	a0010c0009t0122 a0010c0009t0122	a0010c0009t0122g0136 a0010c0009t0122g0136	1	266	0.0038	32	c.-16 others(53): Show c.-163-10798_-163-10797insATGTGTGTGTATGTGTGTGTATGT GTGTATGT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8663752	G G	GTATGTGT others(25): Show GTATGTGTGTGTATGTGTGTGTGTATGTGTGTA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0109 a0001c0001t0109	a0001c0001t0109g0096 a0001c0001t0109g0096	1	363	0.0028	32	c.-16 others(53): Show c.-163-10798_-163-10797insATGTGTGTGTATGTGTGTGTGTAT GTGTGTAT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8678147	G G	GTCCATCC others(25): Show GTCCATCCATCCATCCATCCATCCACCTATCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG01069.hp1 others(34): Show HG00140.hp2 HG00323.hp2 HG01069.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01175.hp1 HG01261.hp1 HG01934.hp1 HG01975.hp2 HG02004.hp1 HG02040.hp2 HG02145.hp2 HG02300.hp2 HG02572.hp1 HG02738.hp1 HG02809.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03239.hp2 HG03471.hp1 HG03490.hp1 HG03492.hp1 NA18612.hp2 NA18950.hp1 NA18975.hp1 NA18990.hp1 NA18998.hp2 NA19000.hp1 NA19010.hp2 NA19074.hp2 NA19090.hp1	a0003 a0004 a0005 others(2): Show a0003 a0004 a0005 a0006 a0012	a0003c0003 a0004c0004 a0005c0005 others(2): Show a0003c0003 a0004c0004 a0005c0005 a0006c0006 a0012c0011	a0003c0003t0006 a0003c0003t0012 a0003c0003t0018 others(13): Show a0003c0003t0006 a0003c0003t0012 a0003c0003t0018 a0003c0003t0033 a0003c0003t0034 a0003c0003t0035 a0003c0003t0071 a0003c0003t0073 a0003c0003t0074 a0003c0003t0082 a0003c0003t0084 a0004c0004t0070 a0005c0005t0023 a0006c0006t0017 a0006c0006t0064 a0012c0011t0063	a0003c0003t0006g0168 a0003c0003t0006g0172 a0003c0003t0006g0179 others(34): Show a0003c0003t0006g0168 a0003c0003t0006g0172 a0003c0003t0006g0179 a0003c0003t0006g0183 a0003c0003t0006g0205 a0003c0003t0006g0251 a0003c0003t0006g0306 a0003c0003t0006g0307 a0003c0003t0012g0054 a0003c0003t0012g0071 a0003c0003t0012g0073 a0003c0003t0012g0160 a0003c0003t0012g0335 a0003c0003t0018g0090 a0003c0003t0018g0204 a0003c0003t0018g0247 a0003c0003t0018g0273 a0003c0003t0033g0027 a0003c0003t0033g0029 a0003c0003t0034g0210 a0003c0003t0034g0275 a0003c0003t0035g0208 a0003c0003t0071g0330 a0003c0003t0073g0081 a0003c0003t0074g0072 a0003c0003t0082g0272 a0003c0003t0084g0117 a0004c0004t0070g0113 a0005c0005t0023g0079 a0005c0005t0023g0112 a0005c0005t0023g0114 a0006c0006t0017g0055 a0006c0006t0017g0119 a0006c0006t0017g0286 a0006c0006t0017g0343 a0006c0006t0064g0065 a0012c0011t0063g0256	37	350	0.1057	32	c.51 others(41): Show c.515_*516insATCCATCCATCCATCCATCCACCTATCCATCC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	516	INFO_REALIGN_3_PRIME	chr19	TogoVar
NFKB1_chr4_102496359_102622302	102551347	G G	GGTGTGTG others(25): Show GGTGTGTGTGTGTGTGCGCGCGCGCGCATGTGT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03209.hp2 HG02976.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0219 a0001c0001t0003g0218 a0001c0001t0001g0219 a0001c0001t0003g0218	2	319	0.0063	32	c.258 others(51): Show c.258+13406_258+13407insCGCGCGCGCGCATGTGTGTGTGTGTG TGTGTG	NFKB1	ENSG00000109320.14	transcript	ENST00000226574.9	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
NFYC_chr1_40686704_40776603	40763152	G G	GTATATCT others(25): Show GTATATCTATAGCTATATATATACCTTGATATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03453.hp2 HG02615.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0087 a0001c0001t0002g0078 a0001c0001t0002g0087	2	330	0.0061	32	c.720 others(47): Show c.720+144_720+175dupCTATAGCTATATATATACCTTGATATATAT AT	NFYC	ENSG00000066136.21	transcript	ENST00000447388.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFYC_chr1_40686704_40776603	40763256	A A	ATAGCTAT others(25): Show ATAGCTATATATATACCTTGATATATATATCTG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0309 a0001c0001t0001g0309	1	330	0.0030	32	c.720 others(47): Show c.720+240_720+271dupCTGTAGCTATATATATACCTTGATATATAT AT	NFYC	ENSG00000066136.21	transcript	ENST00000447388.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr1	TogoVar

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