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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
NHS_chrX_17370200_17740994	17615183	A A	ACGTATAT others(26): Show ACGTATATATACACATATATACGTATATATATAC	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA19007.hp1 NA19068.hp1 NA18966.hp1 NA19007.hp1 NA19068.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0001 a0004c0004t0001 a0002c0002t0001 a0004c0004t0001	a0002c0002t0001g0053 a0004c0004t0001g0055 a0004c0004t0001g0065 a0002c0002t0001g0053 a0004c0004t0001g0055 a0004c0004t0001g0065	3	32	0.0938	33	c.566 others(52): Show c.566-72559_566-72558insCGTATATATACACATATATACGTATA TATATAC		NHS	ENSG00000188158.17	transcript	ENST00000676302.1	protein_coding	1/8						chrX	TogoVar
NID2_chr14_51999809_52074059	52030552	G G	GAAAGAAA others(26): Show GAAAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0034 a0034	a0034c0057 a0034c0057	a0034c0057t0001 a0034c0057t0001	a0034c0057t0001g0314 a0034c0057t0001g0314	1	368	0.0027	33	c.225 others(50): Show c.2258-863_2258-862insTCTTTCTTTCTCTTTCTTTCTCTTTCTT TCTTT		NID2	ENSG00000087303.19	transcript	ENST00000216286.10	protein_coding	9/21						chr14	TogoVar
NIM1K_chr5_43187225_43285850	43261590	C C	CTGTGCAG others(26): Show CTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	290	0.0034	33	c.293 others(52): Show c.293-15452_293-15451insTAGTTTAATTAGATCCCATGTGCAGA AGCTCTT		NIM1K	ENSG00000177453.7	transcript	ENST00000326035.6	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
NINJ1_chr9_93116496_93139251	93134289	C C	CGCCCGCC others(26): Show CGCCCGCCCCCGGCCCGCCCCCGGCCCGCCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	216	0.0046	33	c.-73 others(40): Show c.-73_-72insCGGGGGCGGGCCGGGGGCGGGCCGGGGGCGGGC		NINJ1	ENSG00000131669.10	transcript	ENST00000375446.5	protein_coding					39		chr9	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA19064.hp2 HG02083.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0069 a0001c0001t0002g0144 a0001c0001t0001g0069 a0001c0001t0002g0144	2	38	0.0526	33	c.33+ others(50): Show c.33+33431_33+33432insATATATATATATTTTTTTTTTTTTTTTT TTTTT		NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3						chr12	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA18953.hp2 NA18975.hp1 HG01884.hp2 NA18953.hp2 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0149 a0001c0001t0002g0151 a0001c0001t0002g0385 a0001c0001t0001g0149 a0001c0001t0002g0151 a0001c0001t0002g0385	3	39	0.0769	33	c.33+ others(50): Show c.33+33431_33+33432insATATATATATATATTTTTTTTTTTTTTT TTTTT		NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3						chr12	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02083.hp1 HG00673.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0143 a0001c0001t0001g0039 a0001c0001t0001g0143	2	38	0.0526	33	c.33+ others(50): Show c.33+33431_33+33432insATATATATATATATATTTTTTTTTTTTT TTTTT		NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3						chr12	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02559.hp1 NA19090.hp1 HG01069.hp2 HG02559.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0032 a0001c0001t0002g0127 a0001c0001t0002g0386 a0001c0001t0001g0032 a0001c0001t0002g0127 a0001c0001t0002g0386	3	39	0.0769	33	c.33+ others(50): Show c.33+33431_33+33432insATATATATATATATATATTTTTTTTTTT TTTTT		NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3						chr12	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	37	0.0270	33	c.33+ others(50): Show c.33+33431_33+33432insATATATATATATATATATATTTTTTTTT TTTTT		NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3						chr12	TogoVar
NKAIN3_chr8_62243854_62989904	62729023	C C	CAAACCAA others(26): Show CAAACCAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02258.hp1 HG01168.hp2 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0044 a0001c0002t0002 a0001c0002t0044	a0001c0002t0002g0126 a0001c0002t0044g0061 a0001c0002t0002g0126 a0001c0002t0044g0061	2	62	0.0323	33	c.274 others(52): Show c.274-17909_274-17908insAAACCAAAAAAAAAAAAAAAAAAAAA AAAAAAA		NKAIN3	ENSG00000185942.13	transcript	ENST00000623646.3	protein_coding	3/6						chr8	TogoVar
NKAIN3_chr8_62243854_62989904	62883457	G G	GTTGTTGT others(26): Show GTTGTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG03942.hp1 HG01515.hp1 HG03942.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0093 a0002c0003t0051 a0001c0001t0093 a0002c0003t0051	a0001c0001t0093g0002 a0002c0003t0051g0025 a0001c0001t0093g0002 a0002c0003t0051g0025	2	19	0.1053	33	c.472 others(52): Show c.472-34994_472-34993insGTTGTTTTTTTTTTTTTTTTTTTTTT TTTTTTT		NKAIN3	ENSG00000185942.13	transcript	ENST00000623646.3	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr8	TogoVar
NKX1-2_chr10_124440243_124455035	124444486	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0006 a0002c0004t0004g0006	1	346	0.0029	33	c.29 others(44): Show c.2942_*2943insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		NKX1-2	ENSG00000229544.9	transcript	ENST00000451024.5	protein_coding					756		chr10	TogoVar
NKX2-6_chr8_23696740_23711756	23708481	C C	CCTTCTTC others(26): Show CCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp1 NA18949.hp1 NA19085.hp1 HG01517.hp1 NA18949.hp1 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0005 a0001c0002t0004g0020 a0001c0002t0004g0028 a0001c0002t0004g0005 a0001c0002t0004g0020 a0001c0002t0004g0028	3	376	0.0080	33	c.-18 others(44): Show c.-1884_-1883insAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG		NKX2-6	ENSG00000180053.8	transcript	ENST00000325017.4	protein_coding					1726		chr8	TogoVar
NKX2-6_chr8_23696740_23711756	23708510	T T	TTCTTCTT others(26): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0005 a0001c0002t0004g0005	1	394	0.0025	33	c.-19 others(44): Show c.-1913_-1912insGGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGA		NKX2-6	ENSG00000180053.8	transcript	ENST00000325017.4	protein_coding					1755		chr8	TogoVar
NKX2-6_chr8_23696740_23711756	23708574	T T	TCTTCTTC others(26): Show TCTTCTTCTTCTTCTTCCTCTCCTCCTCCTCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	255	0.0039	33	c.-19 others(44): Show c.-1977_-1976insGAGGAGGAGGAGGAGAGGAAGAAGAAGAAGAAG		NKX2-6	ENSG00000180053.8	transcript	ENST00000325017.4	protein_coding					1819		chr8	TogoVar
NLGN4X_chrX_5885042_6233867	6161083	A A	AATATAGG others(26): Show AATATAGGATATAAAATATATTATTCTATATATT	intron_variant intron_variant	MODIFIER	HG01256.hp1 NA19070.hp1 HG01256.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0001t0002 a0001c0002t0003	a0001c0001t0002g0032 a0001c0002t0003g0085 a0001c0001t0002g0032 a0001c0002t0003g0085	2	125	0.0160	33	c.-30 others(52): Show c.-305-9345_-305-9313dupAATATATAGAATAATATATTTTATAT CCTATAT		NLGN4X	ENSG00000146938.16	transcript	ENST00000381095.8	protein_coding	1/5						chrX	TogoVar
NLN_chr5_65717205_65834283	65738926	G G	GTATATAT others(26): Show GTATATATATGTATATATAAATATATAATATATT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp1 HG02280.hp1 others(7): Show HG02055.hp2 HG02109.hp1 HG02280.hp1 HG02723.hp1 HG02886.hp1 HG02895.hp2 HG03195.hp2 HG03516.hp1 NA19030.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0052 a0002c0003t0010 a0002c0003t0017 others(2): Show a0001c0001t0052 a0002c0003t0010 a0002c0003t0017 a0002c0003t0049 a0002c0003t0058	a0001c0001t0052g0283 a0002c0003t0010g0260 a0002c0003t0010g0267 others(7): Show a0001c0001t0052g0283 a0002c0003t0010g0260 a0002c0003t0010g0267 a0002c0003t0010g0269 a0002c0003t0010g0282 a0002c0003t0010g0285 a0002c0003t0010g0286 a0002c0003t0017g0266 a0002c0003t0049g0268 a0002c0003t0058g0284	10	331	0.0302	33	c.41+ others(50): Show c.41+16513_41+16514insATATATATGTATATATAAATATATAATA TATTT		NLN	ENSG00000123213.23	transcript	ENST00000380985.10	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr5	TogoVar
NLRC4_chr2_32219453_32269886	32261316	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA18522.hp1 HG00597.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0179 a0001c0001t0001g0180	2	196	0.0102	33	c.-11 others(52): Show c.-119+3421_-119+3422insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA		NLRC4	ENSG00000091106.19	transcript	ENST00000402280.6	protein_coding	1/8						chr2	TogoVar
NLRC5_chr16_56984557_57088520	57032481	G G	GGCTATTT others(26): Show GGCTATTTCAATTTAAATAAATTAAAATTTTAAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01192.hp1 HG04199.hp1 HG00733.hp1 HG01192.hp1 HG04199.hp1	a0003 a0004 a0013 a0003 a0004 a0013	a0003c0098 a0004c0016 a0013c0019 a0003c0098 a0004c0016 a0013c0019	a0003c0098t0001 a0004c0016t0001 a0013c0019t0002 a0003c0098t0001 a0004c0016t0001 a0013c0019t0002	a0003c0098t0001g0042 a0004c0016t0001g0046 a0013c0019t0002g0249 a0003c0098t0001g0042 a0004c0016t0001g0046 a0013c0019t0002g0249	3	422	0.0071	33	c.247 others(52): Show c.2477+1059_2478-1050dupCAATTTAAATAAATTAAAATTTTAAT GCTATTT		NLRC5	ENSG00000140853.17	transcript	ENST00000688547.1	protein_coding	11/48					INFO_REALIGN_3_PRIME	chr16	TogoVar
NLRP2_chr19_54961374_55006138	54976810	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0006 a0006	a0006c0026 a0006c0026	a0006c0026t0001 a0006c0026t0001	a0006c0026t0001g0288 a0006c0026t0001g0288	1	242	0.0041	33	c.326 others(48): Show c.326-941_326-940insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT		NLRP2	ENSG00000022556.16	transcript	ENST00000448584.7	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP2_chr19_54961374_55006138	54984485	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp1 NA18944.hp2 NA18992.hp2 HG01952.hp1 NA18944.hp2 NA18992.hp2	a0001 a0002 a0001 a0002	a0001c0010 a0002c0003 a0001c0010 a0002c0003	a0001c0010t0001 a0002c0003t0003 a0001c0010t0001 a0002c0003t0003	a0001c0010t0001g0395 a0002c0003t0003g0249 a0002c0003t0003g0266 a0001c0010t0001g0395 a0002c0003t0003g0249 a0002c0003t0003g0266	3	67	0.0448	33	c.203 others(50): Show c.2031-547_2031-546insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		NLRP2	ENSG00000022556.16	transcript	ENST00000448584.7	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP3_chr1_247411173_247453817	247448885	T T	TCATCATT others(26): Show TCATCATTCCCGCTATCTTTCTATTAACTGACCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0320 a0001c0001t0001g0320	1	438	0.0023	33	c.38 others(42): Show c.381_*382insCATCATTCCCGCTATCTTTCTATTAACTGACCA		NLRP3	ENSG00000162711.18	transcript	ENST00000336119.8	protein_coding					69		chr1	TogoVar
NLRP4_chr19_55831540_55886855	55838035	C C	CCAAAAAA others(26): Show CCAAAAAAAAAAAAAAAAAAGGAAAATGGCCCCA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00558.hp2 others(82): Show HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00738.hp2 HG01074.hp2 HG01123.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01496.hp2 HG01934.hp2 HG02040.hp1 HG02040.hp2 HG02109.hp2 HG02148.hp2 HG02155.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02622.hp1 HG02630.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG03098.hp1 HG03195.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03669.hp1 HG04184.hp1 HG04204.hp2 HG06807.hp1 NA18747.hp1 NA18906.hp1 NA18944.hp2 NA18945.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp2 NA18960.hp1 NA18962.hp2 NA18963.hp2 NA18968.hp1 NA18969.hp2 NA18978.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18986.hp2 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19057.hp2 NA19060.hp1 NA19064.hp2 NA19066.hp2 NA19067.hp1 NA19074.hp2 NA19081.hp2 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19089.hp1 NA19091.hp2 NA19240.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0008 a0009	a0001c0001 a0001c0005 a0001c0006 others(15): Show a0001c0001 a0001c0005 a0001c0006 a0001c0011 a0001c0034 a0002c0002 a0002c0003 a0002c0009 a0002c0017 a0002c0021 a0002c0039 a0003c0007 a0003c0008 a0004c0004 a0005c0010 a0005c0012 a0008c0027 a0009c0022	a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 others(36): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0001t0018 a0001c0005t0001 a0001c0005t0009 a0001c0005t0013 a0001c0005t0017 a0001c0006t0002 a0001c0011t0006 a0001c0034t0002 a0002c0002t0002 a0002c0002t0006 a0002c0002t0008 a0002c0002t0011 a0002c0002t0012 a0002c0002t0015 a0002c0002t0016 a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 a0002c0003t0006 a0002c0003t0009 a0002c0003t0012 a0002c0009t0002 a0002c0017t0005 a0002c0017t0019 a0002c0017t0020 a0002c0021t0002 a0002c0039t0004 a0003c0007t0002 a0003c0007t0016 a0003c0008t0002 a0004c0004t0001 a0004c0004t0002 a0005c0010t0002 a0005c0012t0002 a0008c0027t0002 a0009c0022t0006	a0001c0001t0002g0254 a0001c0001t0002g0267 a0001c0001t0002g0268 others(81): Show a0001c0001t0002g0254 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0270 a0001c0001t0006g0244 a0001c0001t0006g0318 a0001c0001t0006g0319 a0001c0001t0010g0366 a0001c0001t0018g0367 a0001c0005t0001g0231 a0001c0005t0001g0255 a0001c0005t0009g0012 a0001c0005t0013g0225 a0001c0005t0017g0278 a0001c0005t0017g0279 a0001c0006t0002g0261 a0001c0006t0002g0316 a0001c0006t0002g0321 a0001c0006t0002g0322 a0001c0006t0002g0324 a0001c0011t0006g0290 a0001c0034t0002g0292 a0002c0002t0002g0242 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0256 a0002c0002t0002g0269 a0002c0002t0002g0320 a0002c0002t0006g0248 a0002c0002t0006g0249 a0002c0002t0006g0250 a0002c0002t0006g0251 a0002c0002t0006g0252 a0002c0002t0006g0253 a0002c0002t0006g0257 a0002c0002t0006g0275 a0002c0002t0006g0277 a0002c0002t0006g0282 a0002c0002t0006g0286 a0002c0002t0006g0287 a0002c0002t0008g0219 a0002c0002t0011g0014 a0002c0002t0011g0237 a0002c0002t0012g0216 a0002c0002t0012g0218 a0002c0002t0015g0226 a0002c0002t0016g0289 a0002c0003t0001g0172 a0002c0003t0001g0228 a0002c0003t0003g0215 a0002c0003t0004g0174 a0002c0003t0004g0175 a0002c0003t0006g0266 a0002c0003t0009g0013 a0002c0003t0012g0217 a0002c0009t0002g0272 a0002c0017t0005g0365 a0002c0017t0019g0332 a0002c0017t0020g0280 a0002c0021t0002g0323 a0002c0039t0004g0019 a0003c0007t0002g0006 a0003c0007t0002g0265 a0003c0007t0002g0293 a0003c0007t0002g0325 a0003c0007t0016g0291 a0003c0008t0002g0259 a0003c0008t0002g0283 a0004c0004t0001g0171 a0004c0004t0002g0260 a0004c0004t0002g0284 a0004c0004t0002g0285 a0005c0010t0002g0243 a0005c0010t0002g0262 a0005c0010t0002g0263 a0005c0010t0002g0264 a0005c0010t0002g0276 a0005c0010t0002g0288 a0005c0012t0002g0258 a0005c0012t0002g0271 a0005c0012t0002g0273 a0008c0027t0002g0247 a0008c0027t0002g0274 a0009c0022t0006g0317	85	413	0.2058	33	c.-66 others(50): Show c.-66+1101_-66+1102insCAAAAAAAAAAAAAAAAAAGGAAAATGG CCCCA		NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9						chr19	TogoVar
NLRP4_chr19_55831540_55886855	55838035	C C	CCAAAAAA others(26): Show CCAAAAAAAAAAAAAAAAACGGAAAATGGCCCCA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0400 a0002c0003t0008g0400	1	329	0.0030	33	c.-66 others(50): Show c.-66+1101_-66+1102insCAAAAAAAAAAAAAAAAACGGAAAATGG CCCCA		NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9						chr19	TogoVar
NME2_chr17_51161411_51176744	51176422	A A	AAAAAAAA others(26): Show AAAAAAAAAAATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	184	0.0054	33	c.48 others(44): Show c.4818_*4819insAAAAAAAAAATATATATATATATATATATATAT		NME2	ENSG00000243678.12	transcript	ENST00000512737.6	protein_coding					4679		chr17	TogoVar
NME2_chr17_51161411_51176744	51176422	A A	AAAAAAAT others(26): Show AAAAAAATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	184	0.0054	33	c.48 others(44): Show c.4818_*4819insAAAAAATATATATATATATATATATATATATAT		NME2	ENSG00000243678.12	transcript	ENST00000512737.6	protein_coding					4679		chr17	TogoVar
NME7_chr1_169127531_169372797	169342887	C C	CATATATA others(26): Show CATATATACAAGTACATATATATAGTGTATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	208	0.0048	33	c.4-1 others(48): Show c.4-18420_4-18388dupATATATACACTATATATATGTACTTGTATA TAT		NME7	ENSG00000143156.14	transcript	ENST00000367811.8	protein_coding	1/11						chr1	TogoVar
NME8_chr7_37843597_37905397	37847185	G G	GGAAGAAG others(26): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp1 NA18983.hp1 NA18994.hp2 others(3): Show NA18964.hp1 NA18983.hp1 NA18994.hp2 NA19030.hp1 NA19084.hp1 NA19240.hp1	a0002 a0011 a0002 a0011	a0002c0002 a0002c0008 a0002c0009 others(1): Show a0002c0002 a0002c0008 a0002c0009 a0011c0029	a0002c0002t0001 a0002c0008t0001 a0002c0009t0001 others(1): Show a0002c0002t0001 a0002c0008t0001 a0002c0009t0001 a0011c0029t0001	a0002c0002t0001g0141 a0002c0002t0001g0209 a0002c0002t0001g0210 others(3): Show a0002c0002t0001g0141 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0008t0001g0219 a0002c0009t0001g0238 a0011c0029t0001g0027	6	87	0.0690	33	c.-17 others(44): Show c.-1784_-1783insGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA		NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding					1411		chr7	TogoVar
NME8_chr7_37843597_37905397	37847185	G G	GGAGGAAG others(26): Show GGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0131 a0003c0003t0001g0131	1	82	0.0122	33	c.-17 others(44): Show c.-1784_-1783insGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA		NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding					1411		chr7	TogoVar
NME8_chr7_37843597_37905397	37848345	G G	GAAGAACA others(26): Show GAAGAACAAGAAGAACAAGAAGAACAAGAAGAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0202 a0002c0009t0001g0202	1	284	0.0035	33	c.-62 others(42): Show c.-624_-623insAAGAACAAGAAGAACAAGAAGAACAAGAAGAAC		NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding					251		chr7	TogoVar
NMI_chr2_151265470_151294668	151272831	A A	AGGGGGAG others(26): Show AGGGGGAGCGGAGGGGGGGGGAGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0089 a0001c0003t0001g0089	1	408	0.0025	33	c.635 others(50): Show c.635-1100_635-1099insCCCCCCCCCCCCTCCCCCCCCCTCCGCT CCCCC		NMI	ENSG00000123609.11	transcript	ENST00000243346.10	protein_coding	6/7						chr2	TogoVar
NMNAT2_chr1_183243237_183423380	183341725	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0068 a0001c0001t0014g0068	1	86	0.0116	33	c.86- others(50): Show c.86-47933_86-47932insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		NMNAT2	ENSG00000157064.11	transcript	ENST00000287713.7	protein_coding	1/10						chr1	TogoVar
NMNAT2_chr1_183243237_183423380	183364686	T T	TCTTTCTT others(26): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp2 HG00609.hp1 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0044 a0001c0001t0041 a0001c0001t0044	a0001c0001t0041g0054 a0001c0001t0044g0053 a0001c0001t0041g0054 a0001c0001t0044g0053	2	256	0.0078	33	c.85+ others(50): Show c.85+53496_85+53497insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAG		NMNAT2	ENSG00000157064.11	transcript	ENST00000287713.7	protein_coding	1/10						chr1	TogoVar
NMUR2_chr5_152386546_152410279	152397012	G G	GTTTTTTT others(26): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0069 a0002c0003t0002g0069	1	267	0.0037	33	c.811 others(50): Show c.811+1047_811+1048insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA		NMUR2	ENSG00000132911.5	transcript	ENST00000255262.4	protein_coding	2/3						chr5	TogoVar
NMUR2_chr5_152386546_152410279	152407752	A A	AATATATT others(26): Show AATATATTTATATATTATATATCCATATATGGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	444	0.0023	33	c.-26 others(44): Show c.-2672_-2640dupATCCATATATGGATATATAATATATAAATATAT		NMUR2	ENSG00000132911.5	transcript	ENST00000255262.4	protein_coding					2474		chr5	TogoVar
NOL4L_chr20_32438059_32590333	32441740	A A	ACCCCGCC others(26): Show ACCCCGCCCCCCCCCCCCCCCCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	194	0.0052	33	c.58 others(44): Show c.5855_*5856insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGG		NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding					1318		chr20	TogoVar
NOL4L_chr20_32438059_32590333	32500532	T T	TTTTTTTT others(26): Show TTTTTTTTTTTTTTTTTTTTTACTAGAGACATGG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG04199.hp1 HG01099.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0082 a0001c0001t0002g0083	2	194	0.0103	33	c.699 others(52): Show c.699+10814_699+10815insCCATGTCTCTAGTAAAAAAAAAAAAA AAAAAAA		NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	4/10						chr20	TogoVar
NOL4_chr18_33846100_34229913	34024194	A A	AAAAATAT others(26): Show AAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	35	0.0286	33	c.773 others(50): Show c.773-4594_773-4593insATATATATATATATATATATATATATAT ATTTT		NOL4	ENSG00000101746.16	transcript	ENST00000261592.10	protein_coding	5/10						chr18	TogoVar
NOMO1_chr16_14828721_14901157	14867176	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	61	0.0164	33	c.180 others(50): Show c.1806+486_1806+487insATATATATATATATATATATATATATAT ATATT		NOMO1	ENSG00000103512.16	transcript	ENST00000287667.12	protein_coding	15/30					INFO_REALIGN_3_PRIME	chr16	TogoVar
NOMO1_chr16_14828721_14901157	14867176	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	61	0.0164	33	c.180 others(50): Show c.1806+486_1806+487insATATATATATATATATATATATATATAT ATTTT		NOMO1	ENSG00000103512.16	transcript	ENST00000287667.12	protein_coding	15/30					INFO_REALIGN_3_PRIME	chr16	TogoVar
NOS1AP_chr1_162064691_162375475	162217267	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	25	0.0400	33	c.177 others(52): Show c.177+62805_177+62806insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT		NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162261539	A A	AAGAGAGG others(26): Show AAGAGAGGAGAGAGAGAGAGAAGAGAGAAGAGAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02723.hp2 HG02965.hp1 others(2): Show HG02055.hp1 HG02723.hp2 HG02965.hp1 NA19007.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0002t0004 a0001c0005t0007	a0001c0001t0002g0093 a0001c0001t0005g0165 a0001c0001t0011g0003 others(2): Show a0001c0001t0002g0093 a0001c0001t0005g0165 a0001c0001t0011g0003 a0001c0002t0004g0108 a0001c0005t0007g0073	5	100	0.0500	33	c.178 others(52): Show c.178-25805_178-25804insAGAGAGGAGAGAGAGAGAGAAGAGAG AAGAGAG		NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9						chr1	TogoVar
NOS1_chr12_117203142_117366626	117256284	G G	GTTTTTTT others(26): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0201 a0001c0001t0034g0201	1	86	0.0116	33	c.253 others(52): Show c.2531+2112_2531+2113insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA		NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding	16/28						chr12	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149390802	A A	AGGCGGCG others(26): Show AGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01168.hp1 HG01169.hp2 HG01346.hp1 others(8): Show HG01168.hp1 HG01169.hp2 HG01346.hp1 HG02135.hp2 HG02886.hp2 HG02976.hp2 HG03831.hp2 NA18940.hp1 NA18952.hp2 NA18953.hp1 NA18989.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0001 a0009c0009t0006 a0009c0009t0008 others(3): Show a0009c0009t0001 a0009c0009t0006 a0009c0009t0008 a0009c0009t0041 a0009c0009t0047 a0009c0009t0054	a0009c0009t0001g0001 a0009c0009t0001g0002 a0009c0009t0001g0096 others(8): Show a0009c0009t0001g0001 a0009c0009t0001g0002 a0009c0009t0001g0096 a0009c0009t0001g0097 a0009c0009t0001g0180 a0009c0009t0001g0231 a0009c0009t0006g0179 a0009c0009t0008g0146 a0009c0009t0041g0102 a0009c0009t0047g0174 a0009c0009t0054g0101	11	49	0.2245	33	c.44_ others(38): Show c.44_45insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG	p.Gly others(44): Show p.Gly15_Gly16insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGly	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/5	212/8729	45/882	15/293		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLR_chr1_120718945_120799851	120752554	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	40	0.0250	33	c.74- others(50): Show c.74-11073_74-11072insATATATATATATATATATATATATATTT TTTTT		NOTCH2NLR	ENSG00000286106.3	transcript	ENST00000624419.3	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2_chr1_119906553_120074662	120041071	A A	AAATATAT others(26): Show AAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0021 a0001c0002t0002g0021	1	51	0.0196	33	c.74- others(50): Show c.74-11085_74-11084insATATATATATATATATATATATATATAT ATATT		NOTCH2	ENSG00000134250.21	transcript	ENST00000256646.7	protein_coding	1/33						chr1	TogoVar
NOTCH2_chr1_119906553_120074662	120041071	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 NA19011.hp1 NA19086.hp1 HG00735.hp1 NA19011.hp1 NA19086.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0018 a0001c0002t0002g0032 a0001c0002t0002g0040 a0001c0002t0002g0018 a0001c0002t0002g0032 a0001c0002t0002g0040	3	53	0.0566	33	c.74- others(50): Show c.74-11085_74-11084insATATATATATATATATATATATATATAT ATATA		NOTCH2	ENSG00000134250.21	transcript	ENST00000256646.7	protein_coding	1/33						chr1	TogoVar
NOTUM_chr17_81947507_81966187	81952348	G G	GGGAGGGG others(26): Show GGGAGGGGAGGGAGAGGAGGAGGGCAGGGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0016 a0001c0001t0007g0016	1	198	0.0051	33	c.61 others(42): Show c.612_*613insTCTCTCCCTGCCCTCCTCCTCTCCCTCCCCTCC		NOTUM	ENSG00000185269.12	transcript	ENST00000409678.8	protein_coding					158		chr17	TogoVar
NPAS3_chr14_32933879_33809173	32938524	A A	AGAGAGAG others(26): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0014 a0001c0008t0014	a0001c0008t0014g0012 a0001c0008t0014g0012	1	62	0.0161	33	c.-79 others(42): Show c.-793_-792insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding					354		chr14	TogoVar
NPAS3_chr14_32933879_33809173	33301323	T T	TATATATA others(26): Show TATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0057 a0001c0001t0011g0057	1	84	0.0119	33	c.386 others(52): Show c.386-65863_386-65862insATATATATATATATATATATATATAT ATATATA		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	3/11						chr14	TogoVar

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