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
NIPAL2_chr8_98184826_98299235	98280761	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0155 a0001c0002t0001g0155	1	37	0.0270	34	c.135 others(53): Show c.135+13241_135+13242insCTCTCTATATATATATATATATATAT ATATATAT	NIPAL2	ENSG00000104361.10	transcript	ENST00000430223.7	protein_coding	1/10			chr8	TogoVar
NIPAL3_chr1_24410802_24477976	24428258	A A	AAGAGAGA others(27): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0061 a0001c0002t0061	a0001c0002t0061g0106 a0001c0002t0061g0106	1	25	0.0400	34	c.93+ others(49): Show c.93+8630_93+8663dupGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGA	NIPAL3	ENSG00000001461.17	transcript	ENST00000374399.9	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
NKAIN1_chr1_31174745_31244887	31232396	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0182 a0001c0001t0002g0182	1	240	0.0042	34	c.54+ others(49): Show c.54+7097_54+7098insATATATATATATATATATATATATATATAT ATAT	NKAIN1	ENSG00000084628.10	transcript	ENST00000373736.7	protein_coding	1/6			chr1	TogoVar
NKAIN1_chr1_31174745_31244887	31232424	T T	TATATATA others(27): Show TATATATATATATATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18962.hp2 HG02083.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0065 a0001c0001t0003g0311 a0001c0001t0001g0065 a0001c0001t0003g0311	2	108	0.0185	34	c.54+ others(49): Show c.54+7069_54+7070insCTCTCTCTCTCTCTCTATATATATATATAT ATAT	NKAIN1	ENSG00000084628.10	transcript	ENST00000373736.7	protein_coding	1/6			chr1	TogoVar
NKAIN1_chr1_31174745_31244887	31232424	T T	TATATATA others(27): Show TATATATATATATATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0084 a0001c0001t0001g0085	2	108	0.0185	34	c.54+ others(49): Show c.54+7069_54+7070insCTCTCTCTCTCTCTATATATATATATATAT ATAT	NKAIN1	ENSG00000084628.10	transcript	ENST00000373736.7	protein_coding	1/6			chr1	TogoVar
NKAIN1_chr1_31174745_31244887	31232424	T T	TATATATA others(27): Show TATATATATATATATATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	107	0.0093	34	c.54+ others(49): Show c.54+7069_54+7070insCTCTCTCTCTCTATATATATATATATATAT ATAT	NKAIN1	ENSG00000084628.10	transcript	ENST00000373736.7	protein_coding	1/6			chr1	TogoVar
NKAIN1_chr1_31174745_31244887	31232424	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG04228.hp2 HG01106.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0072 a0001c0001t0003g0079 a0001c0001t0001g0072 a0001c0001t0003g0079	2	108	0.0185	34	c.54+ others(49): Show c.54+7069_54+7070insCTATATATATATATATATATATATATATAT ATAT	NKAIN1	ENSG00000084628.10	transcript	ENST00000373736.7	protein_coding	1/6			chr1	TogoVar
NKAIN2_chr6_123798865_124830640	124806815	C C	CAAAAGGA others(27): Show CAAAAGGATGGAGGAAGATCTACCAAGCAAATGGA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02451.hp2 HG02602.hp1 others(4): Show HG00741.hp1 HG02451.hp2 HG02602.hp1 HG03139.hp1 NA18906.hp1 NA19240.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0003 a0001c0002t0004 a0001c0002t0018	a0001c0001t0001g0014 a0001c0001t0003g0001 a0001c0001t0003g0033 others(4): Show a0001c0001t0001g0014 a0001c0001t0003g0001 a0001c0001t0003g0033 a0001c0001t0004g0061 a0001c0002t0003g0029 a0001c0002t0004g0063 a0001c0002t0018g0007	7	66	0.1061	34	c.536 others(53): Show c.536-11568_536-11567insGGATGGAGGAAGATCTACCAAGCAAA TGGAAAAA	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
NKAIN3_chr8_62243854_62989904	62845285	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0071 a0001c0001t0067g0071	1	22	0.0455	34	c.472 others(53): Show c.472-73140_472-73139insTATATATATATATATATATATATATA TATATATA	NKAIN3	ENSG00000185942.13	transcript	ENST00000623646.3	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
NKAIN3_chr8_62243854_62989904	62870391	A A	AATATACA others(27): Show AATATACATTGTACATATATACAATATATGTACAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02965.hp2 HG03130.hp2 others(1): Show HG01243.hp1 HG02965.hp2 HG03130.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0042 a0001c0001t0091 a0001c0001t0025 a0001c0001t0042 a0001c0001t0091	a0001c0001t0025g0087 a0001c0001t0025g0088 a0001c0001t0042g0063 others(1): Show a0001c0001t0025g0087 a0001c0001t0025g0088 a0001c0001t0042g0063 a0001c0001t0091g0080	4	144	0.0278	34	c.472 others(53): Show c.472-48054_472-48021dupTTGTACATATATACAATATATGTACA TATATACA	NKAIN3	ENSG00000185942.13	transcript	ENST00000623646.3	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
NKAIN3_chr8_62243854_62989904	62883457	G G	GTTGTTGT others(27): Show GTTGTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG03239.hp1 NA18943.hp2 others(1): Show HG01517.hp2 HG03239.hp1 NA18943.hp2 NA18982.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0065 a0002c0003t0010 a0002c0003t0039 others(1): Show a0001c0001t0065 a0002c0003t0010 a0002c0003t0039 a0002c0003t0064	a0001c0001t0065g0001 a0002c0003t0010g0039 a0002c0003t0039g0052 others(1): Show a0001c0001t0065g0001 a0002c0003t0010g0039 a0002c0003t0039g0052 a0002c0003t0064g0115	4	21	0.1905	34	c.472 others(53): Show c.472-34994_472-34993insGTTGTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	NKAIN3	ENSG00000185942.13	transcript	ENST00000623646.3	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
NKTR_chr3_42595686_42653735	42598916	T T	TATCTATA others(27): Show TATCTATAGATCTACAGATATCTAGATATCTGTAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0006 a0003c0002t0006	a0003c0002t0006g0010 a0003c0002t0006g0010	1	349	0.0029	34	c.-18 others(45): Show c.-1886_-1885insATCTATAGATCTACAGATATCTAGATATCTGTAG	NKTR	ENSG00000114857.19	transcript	ENST00000232978.13	protein_coding		1769		chr3	TogoVar
NKTR_chr3_42595686_42653735	42598916	T T	TATCTATA others(27): Show TATCTATAGATCTATAGATATCTAGATATCTGTAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0012 a0012	a0012c0023 a0012c0023	a0012c0023t0004 a0012c0023t0004	a0012c0023t0004g0054 a0012c0023t0004g0054	1	349	0.0029	34	c.-18 others(45): Show c.-1886_-1885insATCTATAGATCTATAGATATCTAGATATCTGTAG	NKTR	ENSG00000114857.19	transcript	ENST00000232978.13	protein_coding		1769		chr3	TogoVar
NKTR_chr3_42595686_42653735	42598930	T T	TAGATATC others(27): Show TAGATATCTAGATATCTGTAGATCTATAGATCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG02451.hp1 HG02630.hp1 others(10): Show HG01346.hp1 HG02451.hp1 HG02630.hp1 HG02818.hp1 HG03239.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03688.hp1 NA18982.hp2 NA19240.hp1	a0003 a0010 a0003 a0010	a0003c0002 a0003c0019 a0010c0018 a0003c0002 a0003c0019 a0010c0018	a0003c0002t0006 a0003c0019t0006 a0010c0018t0006 a0003c0002t0006 a0003c0019t0006 a0010c0018t0006	a0003c0002t0006g0004 a0003c0002t0006g0010 a0003c0002t0006g0056 others(4): Show a0003c0002t0006g0004 a0003c0002t0006g0010 a0003c0002t0006g0056 a0003c0002t0006g0059 a0003c0002t0006g0060 a0003c0019t0006g0057 a0010c0018t0006g0004	13	234	0.0556	34	c.-18 others(45): Show c.-1872_-1871insAGATATCTAGATATCTGTAGATCTATAGATCTAC	NKTR	ENSG00000114857.19	transcript	ENST00000232978.13	protein_coding		1755		chr3	TogoVar
NKX1-2_chr10_124440243_124455035	124444486	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG03017.hp2 NA19056.hp1 HG01106.hp1 HG03017.hp2 NA19056.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0006 a0002c0004t0004g0006	3	348	0.0086	34	c.29 others(45): Show c.2942_*2943insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NKX1-2	ENSG00000229544.9	transcript	ENST00000451024.5	protein_coding		756		chr10	TogoVar
NLGN1_chr3_173392744_174299372	174201548	A A	AATGTCAG others(27): Show AATGTCAGGTCACTTATAATGTTCTCACTCCATGC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01255.hp2 HG02055.hp1 others(21): Show HG01192.hp2 HG01255.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02523.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02717.hp1 HG02723.hp1 HG02818.hp1 HG02922.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03486.hp2 HG04184.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0001t0037 a0001c0001t0039 a0001c0002t0011 a0001c0002t0024 a0001c0005t0035 a0001c0006t0022 a0001c0007t0027	a0001c0001t0001g0017 a0001c0001t0001g0032 a0001c0001t0002g0039 others(21): Show a0001c0001t0001g0017 a0001c0001t0001g0032 a0001c0001t0002g0039 a0001c0001t0003g0026 a0001c0001t0008g0042 a0001c0001t0015g0027 a0001c0001t0016g0031 a0001c0001t0017g0023 a0001c0001t0018g0004 a0001c0001t0019g0003 a0001c0001t0020g0034 a0001c0001t0026g0012 a0001c0001t0028g0029 a0001c0001t0029g0038 a0001c0001t0031g0001 a0001c0001t0033g0044 a0001c0001t0034g0025 a0001c0001t0037g0009 a0001c0001t0039g0006 a0001c0002t0011g0014 a0001c0002t0024g0037 a0001c0005t0035g0016 a0001c0006t0022g0021 a0001c0007t0027g0020	24	44	0.5455	34	c.707 others(53): Show c.707-73765_707-73764insGTCAGGTCACTTATAATGTTCTCACT CCATGCAT	NLGN1	ENSG00000169760.18	transcript	ENST00000695368.1	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
NLRC4_chr2_32219453_32269886	32261316	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	195	0.0051	34	c.-11 others(53): Show c.-119+3421_-119+3422insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	NLRC4	ENSG00000091106.19	transcript	ENST00000402280.6	protein_coding	1/8			chr2	TogoVar
NLRC5_chr16_56984557_57088520	56993123	A A	ATATATAT others(27): Show ATATATATACATATATATATACACGTATATACGTG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0110 a0002c0001t0002g0110	1	324	0.0031	34	c.-12 others(53): Show c.-128+3514_-128+3515insCATATATATATACACGTATATACGTG TATATATA	NLRC5	ENSG00000140853.17	transcript	ENST00000688547.1	protein_coding	1/48		INFO_REALIGN_3_PRIME	chr16	TogoVar
NLRC5_chr16_56984557_57088520	56993123	A A	ATATATAT others(27): Show ATATATATACATATATATATACACGTATATATGTG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00438.hp2 others(94): Show HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01106.hp1 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01934.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02155.hp1 HG02165.hp1 HG02523.hp1 HG02523.hp2 HG02698.hp1 HG03927.hp1 HG03942.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18953.hp2 NA18954.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp2 NA18974.hp1 NA18978.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18991.hp1 NA18994.hp1 NA18995.hp1 NA18999.hp1 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19011.hp1 NA19030.hp1 NA19054.hp1 NA19056.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19081.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA20752.hp1 NA20905.hp1	a0001 a0002 a0003 others(19): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0012 a0013 a0014 a0015 a0016 a0018 a0022 a0023 a0024 a0025 a0036 a0037 a0039 a0041 a0042	a0001c0003 a0001c0006 a0001c0012 others(37): Show a0001c0003 a0001c0006 a0001c0012 a0001c0030 a0001c0043 a0002c0001 a0002c0004 a0002c0008 a0002c0010 a0002c0024 a0002c0054 a0002c0059 a0003c0002 a0003c0031 a0003c0097 a0003c0102 a0004c0005 a0004c0016 a0004c0072 a0004c0075 a0004c0092 a0005c0007 a0006c0009 a0007c0013 a0007c0053 a0012c0022 a0013c0019 a0014c0021 a0015c0041 a0016c0023 a0018c0051 a0022c0062 a0023c0073 a0024c0093 a0025c0091 a0036c0057 a0037c0080 a0039c0066 a0041c0060 a0042c0096	a0001c0003t0001 a0001c0003t0003 a0001c0003t0013 others(53): Show a0001c0003t0001 a0001c0003t0003 a0001c0003t0013 a0001c0006t0001 a0001c0006t0002 a0001c0006t0003 a0001c0012t0003 a0001c0030t0001 a0001c0043t0002 a0002c0001t0001 a0002c0001t0003 a0002c0001t0004 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0002c0004t0006 a0002c0004t0023 a0002c0008t0001 a0002c0008t0002 a0002c0010t0001 a0002c0024t0004 a0002c0054t0003 a0002c0059t0001 a0003c0002t0001 a0003c0002t0003 a0003c0031t0003 a0003c0097t0002 a0003c0102t0004 a0004c0005t0001 a0004c0005t0002 a0004c0005t0003 a0004c0016t0001 a0004c0072t0001 a0004c0075t0001 a0004c0092t0002 a0005c0007t0001 a0005c0007t0018 a0006c0009t0001 a0007c0013t0003 a0007c0053t0001 a0012c0022t0001 a0013c0019t0001 a0014c0021t0001 a0014c0021t0002 a0015c0041t0004 a0016c0023t0001 a0018c0051t0001 a0022c0062t0001 a0023c0073t0001 a0024c0093t0001 a0025c0091t0001 a0036c0057t0001 a0037c0080t0002 a0039c0066t0001 a0041c0060t0001 a0042c0096t0001	a0001c0003t0001g0080 a0001c0003t0001g0094 a0001c0003t0001g0095 others(93): Show a0001c0003t0001g0080 a0001c0003t0001g0094 a0001c0003t0001g0095 a0001c0003t0001g0181 a0001c0003t0001g0201 a0001c0003t0003g0077 a0001c0003t0013g0189 a0001c0006t0001g0001 a0001c0006t0001g0078 a0001c0006t0002g0070 a0001c0006t0002g0121 a0001c0006t0002g0123 a0001c0006t0003g0129 a0001c0012t0003g0102 a0001c0030t0001g0065 a0001c0043t0002g0111 a0002c0001t0001g0059 a0002c0001t0001g0090 a0002c0001t0001g0116 a0002c0001t0001g0180 a0002c0001t0003g0092 a0002c0001t0003g0097 a0002c0001t0003g0130 a0002c0001t0003g0136 a0002c0001t0003g0137 a0002c0001t0003g0141 a0002c0001t0004g0115 a0002c0004t0001g0088 a0002c0004t0001g0117 a0002c0004t0001g0118 a0002c0004t0001g0176 a0002c0004t0002g0093 a0002c0004t0002g0221 a0002c0004t0003g0087 a0002c0004t0006g0420 a0002c0004t0023g0143 a0002c0008t0001g0058 a0002c0008t0002g0067 a0002c0008t0002g0177 a0002c0010t0001g0119 a0002c0010t0001g0131 a0002c0010t0001g0139 a0002c0024t0004g0108 a0002c0054t0003g0113 a0002c0059t0001g0096 a0003c0002t0001g0066 a0003c0002t0001g0109 a0003c0002t0001g0120 a0003c0002t0001g0122 a0003c0002t0001g0125 a0003c0002t0001g0126 a0003c0002t0001g0138 a0003c0002t0001g0145 a0003c0002t0001g0173 a0003c0002t0001g0174 a0003c0002t0001g0175 a0003c0002t0001g0190 a0003c0002t0003g0144 a0003c0002t0003g0193 a0003c0031t0003g0124 a0003c0097t0002g0178 a0003c0102t0004g0127 a0004c0005t0001g0079 a0004c0005t0001g0128 a0004c0005t0001g0132 a0004c0005t0001g0146 a0004c0005t0002g0133 a0004c0005t0003g0112 a0004c0016t0001g0105 a0004c0072t0001g0135 a0004c0075t0001g0101 a0004c0092t0002g0068 a0005c0007t0001g0103 a0005c0007t0018g0179 a0006c0009t0001g0086 a0006c0009t0001g0099 a0006c0009t0001g0107 a0007c0013t0003g0098 a0007c0053t0001g0085 a0012c0022t0001g0089 a0013c0019t0001g0106 a0014c0021t0001g0069 a0014c0021t0002g0191 a0015c0041t0004g0104 a0016c0023t0001g0142 a0018c0051t0001g0192 a0018c0051t0001g0198 a0022c0062t0001g0100 a0023c0073t0001g0081 a0024c0093t0001g0188 a0025c0091t0001g0134 a0036c0057t0001g0114 a0037c0080t0002g0091 a0039c0066t0001g0064 a0041c0060t0001g0084 a0042c0096t0001g0140	97	420	0.2310	34	c.-12 others(53): Show c.-128+3514_-128+3515insCATATATATATACACGTATATATGTG TATATATA	NLRC5	ENSG00000140853.17	transcript	ENST00000688547.1	protein_coding	1/48		INFO_REALIGN_3_PRIME	chr16	TogoVar
NLRP12_chr19_53788741_53829314	53819698	C C	CACGTATA others(27): Show CACGTATATATATGTATGTATACGTATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp1 HG03209.hp2 others(2): Show HG02055.hp1 HG02145.hp1 HG03209.hp2 HG03486.hp1 NA19043.hp1	a0001 a0004 a0016 a0001 a0004 a0016	a0001c0002 a0004c0010 a0016c0024 a0001c0002 a0004c0010 a0016c0024	a0001c0002t0001 a0004c0010t0007 a0016c0024t0002 a0001c0002t0001 a0004c0010t0007 a0016c0024t0002	a0001c0002t0001g0389 a0004c0010t0007g0097 a0004c0010t0007g0099 others(2): Show a0001c0002t0001g0389 a0004c0010t0007g0097 a0004c0010t0007g0099 a0004c0010t0007g0100 a0016c0024t0002g0098	5	135	0.0370	34	c.289 others(51): Show c.289+4187_289+4188insATATATATATACGTATACATACATATAT ATACGT	NLRP12	ENSG00000142405.23	transcript	ENST00000324134.11	protein_coding	1/9			chr19	TogoVar
NLRP13_chr19_55890945_55937336	55930874	T T	TTTTATAT others(27): Show TTTTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0001 a0001c0046t0001	a0001c0046t0001g0366 a0001c0046t0001g0366	1	311	0.0032	34	c.319 others(51): Show c.319+1118_319+1119insTATATATATATATATATATATATATATA TATAAA	NLRP13	ENSG00000173572.12	transcript	ENST00000342929.4	protein_coding	1/10			chr19	TogoVar
NLRP2_chr19_54961374_55006138	54984485	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0242 a0002c0003t0003g0242	1	65	0.0154	34	c.203 others(51): Show c.2031-547_2031-546insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	NLRP2	ENSG00000022556.16	transcript	ENST00000448584.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55838035	C C	CCAAAAAA others(27): Show CCAAAAAAAAAAAAAAAAAAAGGAAAATGGCCCCA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01928.hp1 HG01981.hp1 others(4): Show HG00609.hp2 HG01928.hp1 HG01981.hp1 HG03130.hp1 NA18906.hp2 NA19058.hp1 NA20300.hp1	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0005	a0002c0002 a0002c0003 a0003c0007 others(2): Show a0002c0002 a0002c0003 a0003c0007 a0004c0004 a0005c0010	a0002c0002t0002 a0002c0003t0007 a0002c0003t0012 others(3): Show a0002c0002t0002 a0002c0003t0007 a0002c0003t0012 a0003c0007t0001 a0004c0004t0002 a0005c0010t0002	a0002c0002t0002g0239 a0002c0003t0007g0011 a0002c0003t0012g0227 others(4): Show a0002c0002t0002g0239 a0002c0003t0007g0011 a0002c0003t0012g0227 a0003c0007t0001g0173 a0004c0004t0002g0281 a0005c0010t0002g0240 a0005c0010t0002g0241	7	335	0.0209	34	c.-66 others(51): Show c.-66+1101_-66+1102insCAAAAAAAAAAAAAAAAAAAGGAAAATG GCCCCA	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9			chr19	TogoVar
NLRP5_chr19_55994726_56066810	55998716	A A	ATATATAT others(27): Show ATATATATATATATGTGTATATATATATATATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00544.hp2 others(30): Show HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00609.hp2 HG02015.hp1 HG02056.hp1 HG02155.hp1 HG02155.hp2 HG02523.hp1 HG03669.hp2 HG03710.hp1 HG03927.hp1 HG04199.hp1 NA18939.hp2 NA18948.hp2 NA18951.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp2 NA18962.hp2 NA18969.hp2 NA18971.hp2 NA18973.hp1 NA18979.hp2 NA18986.hp2 NA18995.hp2 NA19003.hp2 NA19004.hp2 NA19056.hp2 NA19067.hp2 NA19074.hp2 NA19083.hp2 NA20905.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0005 a0006 a0008 a0009 a0010 a0011 a0012 a0013 a0015 a0021 a0043	a0001c0001 a0001c0002 a0001c0003 others(17): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0015 a0002c0004 a0003c0008 a0005c0006 a0005c0025 a0006c0081 a0008c0017 a0009c0013 a0010c0027 a0011c0038 a0011c0039 a0012c0018 a0013c0026 a0015c0044 a0021c0063 a0043c0089	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(17): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0009t0001 a0001c0015t0001 a0002c0004t0002 a0003c0008t0001 a0005c0006t0001 a0005c0025t0001 a0006c0081t0002 a0008c0017t0001 a0009c0013t0001 a0010c0027t0001 a0011c0038t0001 a0011c0039t0001 a0012c0018t0002 a0013c0026t0002 a0015c0044t0002 a0021c0063t0001 a0043c0089t0002	a0001c0001t0001g0093 a0001c0001t0001g0159 a0001c0001t0001g0216 others(30): Show a0001c0001t0001g0093 a0001c0001t0001g0159 a0001c0001t0001g0216 a0001c0001t0001g0230 a0001c0002t0001g0151 a0001c0002t0001g0157 a0001c0002t0001g0240 a0001c0003t0001g0139 a0001c0003t0001g0147 a0001c0003t0001g0161 a0001c0003t0001g0251 a0001c0009t0001g0338 a0001c0015t0001g0241 a0002c0004t0002g0167 a0002c0004t0002g0178 a0002c0004t0002g0236 a0003c0008t0001g0117 a0005c0006t0001g0103 a0005c0006t0001g0113 a0005c0006t0001g0158 a0005c0025t0001g0148 a0006c0081t0002g0219 a0008c0017t0001g0154 a0009c0013t0001g0152 a0010c0027t0001g0313 a0011c0038t0001g0155 a0011c0039t0001g0094 a0011c0039t0001g0095 a0012c0018t0002g0153 a0013c0026t0002g0228 a0015c0044t0002g0156 a0021c0063t0001g0115 a0043c0089t0002g0244	33	370	0.0892	34	c.-10 others(45): Show c.-1010_-1009insTATATATATATATGTGTATATATATATATATGTG	NLRP5	ENSG00000171487.16	transcript	ENST00000390649.8	protein_coding		1009		chr19	TogoVar
NLRP5_chr19_55994726_56066810	55998722	A A	ATATATAT others(27): Show ATATATATGTGTATATATATATATATGTGTATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0042 a0042	a0042c0058 a0042c0058	a0042c0058t0002 a0042c0058t0002	a0042c0058t0002g0169 a0042c0058t0002g0169	1	394	0.0025	34	c.-10 others(45): Show c.-1004_-1003insTATATATGTGTATATATATATATATGTGTATATG	NLRP5	ENSG00000171487.16	transcript	ENST00000390649.8	protein_coding		1003		chr19	TogoVar
NLRP8_chr19_55942832_55993629	55993372	T T	TCCCCTCC others(27): Show TCCCCTCCTCTCCCCCTCCTCTCCCCCCTCCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0030 a0002c0030	a0002c0030t0039 a0002c0030t0039	a0002c0030t0039g0220 a0002c0030t0039g0220	1	341	0.0029	34	c.54 others(45): Show c.5459_*5460insCCCCTCCTCTCCCCCTCCTCTCCCCCCTCCTCTC	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4744		chr19	TogoVar
NMBR_chr6_142069484_142152122	142079104	G G	GAGAAAGA others(27): Show GAGAAAGAGAGAGAGAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01517.hp1 HG01981.hp2 others(22): Show HG00621.hp2 HG01517.hp1 HG01981.hp2 HG02109.hp2 HG02486.hp1 HG02602.hp2 HG02809.hp1 HG02895.hp1 HG02896.hp2 HG02965.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03540.hp1 HG03831.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp2 NA18943.hp2 NA18981.hp1 NA18981.hp2 NA19030.hp2 NA19043.hp1 NA19074.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0014 others(18): Show a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0136 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0206 a0001c0001t0001g0216 a0001c0001t0001g0225 a0001c0001t0001g0236 a0001c0001t0001g0275 a0001c0003t0001g0028 a0001c0003t0001g0030 a0001c0003t0001g0032 a0001c0003t0001g0048 a0001c0003t0001g0054 a0001c0003t0001g0057	25	200	0.1250	34	c.423 others(49): Show c.423-202_423-201insTTCTTTCTTTCTTTCTTTCTCTCTCTCTCT TTCT	NMBR	ENSG00000135577.5	transcript	ENST00000258042.2	protein_coding	2/3			chr6	TogoVar
NME2_chr17_51161411_51176744	51176422	A A	AAAAAAAA others(27): Show AAAAAAAAAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 NA18971.hp1 HG00140.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	185	0.0108	34	c.48 others(45): Show c.4818_*4819insAAAAAAAAATATATATATATATATATATATATAT	NME2	ENSG00000243678.12	transcript	ENST00000512737.6	protein_coding		4679		chr17	TogoVar
NME7_chr1_169127531_169372797	169355224	G G	GATATAAT others(27): Show GATATAATATATAATATATTATATATTATATCTAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	182	0.0055	34	c.3+1 others(49): Show c.3+12450_3+12483dupATAGATATAATATATAATATATTATATATT ATAT	NME7	ENSG00000143156.14	transcript	ENST00000367811.8	protein_coding	1/11			chr1	TogoVar
NME8_chr7_37843597_37905397	37882643	G G	GAAAGAGA others(27): Show GAAAGAGAAAGAAAGAAAGAAAGAAAGAAAAAGAA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0243 a0002c0002t0001g0243	1	214	0.0047	34	c.995 others(51): Show c.995-1659_995-1658insAAGAGAAAGAAAGAAAGAAAGAAAGAAA AAGAAA	NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
NMT2_chr10_15100770_15173693	15113463	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0013 a0001c0004t0013	a0001c0004t0013g0113 a0001c0004t0013g0113	1	119	0.0084	34	c.117 others(51): Show c.1171-501_1171-500insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	9/11			chr10	TogoVar
NMUR2_chr5_152386546_152410279	152397012	G G	GTTTTTTT others(27): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0068 a0002c0003t0002g0068	1	267	0.0037	34	c.811 others(51): Show c.811+1047_811+1048insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	NMUR2	ENSG00000132911.5	transcript	ENST00000255262.4	protein_coding	2/3			chr5	TogoVar
NMUR2_chr5_152386546_152410279	152407839	G G	GTATATTA others(27): Show GTATATTATATATATTATATATAATATATATAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	412	0.0024	34	c.-27 others(45): Show c.-2760_-2727dupTCTTATATATATTATATATAATATATATAATATA	NMUR2	ENSG00000132911.5	transcript	ENST00000255262.4	protein_coding		2561		chr5	TogoVar
NOL10_chr2_10565754_10694975	10587204	C C	CACATATA others(27): Show CACATATATATACACATATATATATACATATATAT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18947.hp1 NA18997.hp1 others(1): Show NA18944.hp2 NA18947.hp1 NA18997.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0196 a0001c0001t0001g0201 others(1): Show a0001c0001t0001g0042 a0001c0001t0001g0196 a0001c0001t0001g0201 a0001c0001t0001g0202	4	361	0.0111	34	c.184 others(53): Show c.1844+1838_1844+1839insATATATATGTATATATATATGTGTAT ATATATGT	NOL10	ENSG00000115761.17	transcript	ENST00000381685.10	protein_coding	19/20			chr2	TogoVar
NOL4_chr18_33846100_34229913	33886771	C C	CTATATAT others(27): Show CTATATATATATATCTATAGATATATCTATATACG	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	155	0.0065	34	c.154 others(53): Show c.1543-3381_1543-3348dupCGTATATAGATATATCTATAGATATA TATATATA	NOL4	ENSG00000101746.16	transcript	ENST00000261592.10	protein_coding	9/10			chr18	TogoVar
NOL4_chr18_33846100_34229913	33886809	A A	ATAGATAT others(27): Show ATAGATATATCTATATACATATATATCTATATATC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	166	0.0060	34	c.154 others(53): Show c.1543-3419_1543-3386dupGATATATAGATATATATGTATATAGA TATATCTA	NOL4	ENSG00000101746.16	transcript	ENST00000261592.10	protein_coding	9/10			chr18	TogoVar
NOL4_chr18_33846100_34229913	33886953	T T	TTATATCT others(27): Show TTATATCTAGATATATCTATATACATATATATCTA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02897.hp2 others(3): Show HG02895.hp1 HG02897.hp1 HG02897.hp2 HG03130.hp1 HG03195.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0149 others(3): Show a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0003g0096 a0001c0001t0003g0100	6	166	0.0361	34	c.154 others(53): Show c.1543-3563_1543-3530dupTAGATATATATGTATATAGATATATC TAGATATA	NOL4	ENSG00000101746.16	transcript	ENST00000261592.10	protein_coding	9/10			chr18	TogoVar
NOL4_chr18_33846100_34229913	34024194	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	35	0.0286	34	c.773 others(51): Show c.773-4594_773-4593insATATATATATATATATATATATATATAT ATATAT	NOL4	ENSG00000101746.16	transcript	ENST00000261592.10	protein_coding	5/10			chr18	TogoVar
NOMO1_chr16_14828721_14901157	14867176	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	61	0.0164	34	c.180 others(51): Show c.1806+486_1806+487insATATATATATATATATATATATATATAT ATATTT	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(27): Show ATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	61	0.0164	34	c.180 others(51): Show c.1806+486_1806+487insATATATATATATATATATATATATATAT ATTTTT	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(27): Show ATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	61	0.0164	34	c.180 others(51): Show c.1806+486_1806+487insATATATATATATATATATATATATATTT TTTTTT	NOMO1	ENSG00000103512.16	transcript	ENST00000287667.12	protein_coding	15/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOP14_chr4_2932936_2968406	2960822	T T	TTAATATT others(27): Show TTAATATTAATATATTAATATTATAATCACATTAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02818.hp2 HG02922.hp2 others(1): Show HG00639.hp2 HG02818.hp2 HG02922.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0023 a0002c0002t0001 a0002c0002t0003 a0002c0002t0023	a0002c0002t0001g0094 a0002c0002t0001g0229 a0002c0002t0003g0101 others(1): Show a0002c0002t0001g0094 a0002c0002t0001g0229 a0002c0002t0003g0101 a0002c0002t0023g0081	4	295	0.0136	34	c.195 others(51): Show c.195+2302_195+2303insTTAATGTGATTATAATATTAATATATTA ATATTA	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar
NOS1AP_chr1_162064691_162375475	162217267	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01884.hp1 HG02451.hp1 others(1): Show HG00642.hp2 HG01884.hp1 HG02451.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0001 a0001c0003t0003 a0001c0003t0006 others(1): Show a0001c0002t0001 a0001c0003t0003 a0001c0003t0006 a0001c0004t0003	a0001c0002t0001g0042 a0001c0003t0003g0076 a0001c0003t0006g0106 others(1): Show a0001c0002t0001g0042 a0001c0003t0003g0076 a0001c0003t0006g0106 a0001c0004t0003g0159	4	28	0.1429	34	c.177 others(53): Show c.177+62805_177+62806insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS3_chr7_150986017_151019588	150995732	A A	ACCCCTCC others(27): Show ACCCCTCCTCCCTCTGCCCCATTCCACCCCTGCAC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0134 a0001c0002t0001g0134	1	380	0.0026	34	c.270 others(49): Show c.270+438_270+471dupATTCCACCCCTGCACCCCCTCCTCCCTCTG CCCC	NOS3	ENSG00000164867.11	transcript	ENST00000297494.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
NOS3_chr7_150986017_151019588	150995988	T T	TCCCTGCA others(27): Show TCCCTGCACCCCTCCTCCCTCTGCTCCCATCCCAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0034 a0002c0034	a0002c0034t0001 a0002c0034t0001	a0002c0034t0001g0111 a0002c0034t0001g0111	1	375	0.0027	34	c.271 others(49): Show c.271-392_271-359dupTCCCATCCCACCCCTGCACCCCTCCTCCCT CTGC	NOS3	ENSG00000164867.11	transcript	ENST00000297494.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
NOTCH2_chr1_119906553_120074662	120041055	A A	AATATATA others(27): Show AATATATATATATATACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG03831.hp2 NA18991.hp1 HG02071.hp2 HG03831.hp2 NA18991.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0146 a0001c0003t0003g0147 a0001c0003t0003g0150 a0001c0003t0003g0146 a0001c0003t0003g0147 a0001c0003t0003g0150	3	158	0.0190	34	c.74- others(51): Show c.74-11069_74-11068insATATATATATATATATATGTATATATAT ATATAT	NOTCH2	ENSG00000134250.21	transcript	ENST00000256646.7	protein_coding	1/33			chr1	TogoVar
NOTCH2_chr1_119906553_120074662	120041057	A A	AATATATA others(27): Show AATATATATATATACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0162 a0001c0005t0003g0162	1	149	0.0067	34	c.74- others(51): Show c.74-11071_74-11070insATATATATATATATATATATGTATATAT ATATAT	NOTCH2	ENSG00000134250.21	transcript	ENST00000256646.7	protein_coding	1/33			chr1	TogoVar
NOTCH2_chr1_119906553_120074662	120041069	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03130.hp1 HG02698.hp1 HG03130.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0009 a0001c0002 a0003c0009	a0001c0002t0002 a0003c0009t0002 a0001c0002t0002 a0003c0009t0002	a0001c0002t0002g0020 a0003c0009t0002g0033 a0001c0002t0002g0020 a0003c0009t0002g0033	2	100	0.0200	34	c.74- others(51): Show c.74-11083_74-11082insATATATATATATATATATATATATATAT ATATAT	NOTCH2	ENSG00000134250.21	transcript	ENST00000256646.7	protein_coding	1/33			chr1	TogoVar
NOTUM_chr17_81947507_81966187	81952339	G G	GGGAGAGG others(27): Show GGGAGAGGAGGGAGGGGAGAGAGGAGGGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0052 a0001c0001t0011g0052	1	382	0.0026	34	c.62 others(43): Show c.621_*622insTCTCCCTCCCTCCTCTCTCCCCTCCCTCCTCTCC	NOTUM	ENSG00000185269.12	transcript	ENST00000409678.8	protein_coding		167		chr17	TogoVar
NOTUM_chr17_81947507_81966187	81952348	G G	GGGAGGGG others(27): Show GGGAGGGGAGGGAGAGGAGGAGGGCAGGGAGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00642.hp2 others(20): Show HG00099.hp2 HG00280.hp2 HG00642.hp2 HG00673.hp1 HG01123.hp2 HG01255.hp1 HG01978.hp2 HG02055.hp2 HG02486.hp2 HG02723.hp1 HG02735.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03453.hp2 HG03471.hp1 HG03942.hp2 NA18612.hp1 NA18983.hp1 NA19030.hp2 NA19043.hp2 NA19070.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0011 a0001c0001 a0010c0011	a0001c0001t0001 a0010c0011t0001 a0001c0001t0001 a0010c0011t0001	a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0015 others(5): Show a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0047 a0001c0001t0001g0067 a0001c0001t0001g0069 a0010c0011t0001g0058	23	220	0.1045	34	c.61 others(43): Show c.612_*613insTCCTCTCCCTGCCCTCCTCCTCTCCCTCCCCTCC	NOTUM	ENSG00000185269.12	transcript	ENST00000409678.8	protein_coding		158		chr17	TogoVar

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