Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

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

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NMT2_chr10_15100770_15173693	15113486	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA18906.hp1 HG02630.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0203 a0001c0001t0005g0204 a0001c0001t0005g0203 a0001c0001t0005g0204	2	276	0.0073	20	c.117 others(37): Show c.1171-524_1171-523insCTTTTTTTTTTTTTTTTTTT	NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	9/11			chr10	TogoVar
NMT2_chr10_15100770_15173693	15151059	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0098 a0001c0001t0034g0098	1	276	0.0036	20	c.111 others(37): Show c.111-9503_111-9502insAAAAAAAAAAAAAAAAAAAA	NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	1/11			chr10	TogoVar
NMT2_chr10_15100770_15173693	15159396	A A	ATATTTAT others(13): Show ATATTTATTTATTTATTTATT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00609.hp2 HG02071.hp1 others(13): Show HG00438.hp1 HG00609.hp2 HG02071.hp1 HG02818.hp1 HG04184.hp1 NA18948.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18982.hp2 NA18984.hp2 NA19005.hp1 NA19078.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0039 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0039 a0001c0001t0041	a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0031 others(13): Show a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0149 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0037 a0001c0001t0002g0042 a0001c0001t0039g0021 a0001c0001t0041g0044	16	276	0.0580	20	c.110 others(37): Show c.110+9087_110+9106dupAATAAATAAATAAATAAATA	NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	1/11			chr10	TogoVar
NMUR1_chr2_231518187_231535445	231527973	G G	GACACACA others(13): Show GACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02523.hp1 NA19084.hp1 HG02155.hp2 HG02523.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	3	428	0.0070	20	c.898 others(35): Show c.898+130_898+149dupGTGTGTGTGTGTGTGTGTGT	NMUR1	ENSG00000171596.7	transcript	ENST00000305141.5	protein_coding	2/2			chr2	TogoVar
NOB1_chr16_69736871_69759926	69741052	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	449	0.0022	20	c.12 others(31): Show c.1279_*1280insTTTTTTTTTTTTTTTTTTTT	NOB1	ENSG00000141101.13	transcript	ENST00000268802.10	protein_coding		818		chr16	TogoVar
NOC3L_chr10_94328226_94367939	94329776	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	380	0.0026	20	c.43 others(31): Show c.4381_*4400dupTTTTTTTTTTTTTTTTTTTT	NOC3L	ENSG00000173145.11	transcript	ENST00000371361.3	protein_coding		3449		chr10	TogoVar
NOL10_chr2_10565754_10694975	10595144	C C	CAGAGAGA others(13): Show CAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03516.hp1 HG03195.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0002 a0001c0001t0001g0010	2	372	0.0054	20	c.142 others(39): Show c.1423-5413_1423-5394dupCTCTCTCTCTCTCTCTCTCT	NOL10	ENSG00000115761.17	transcript	ENST00000381685.10	protein_coding	17/20			chr2	TogoVar
NOL10_chr2_10565754_10694975	10638300	A A	AACGTGAC others(13): Show AACGTGACGTGACGTGACGTG	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	372	0.0027	20	c.102 others(39): Show c.1026+6000_1026+6019dupCACGTCACGTCACGTCACGT	NOL10	ENSG00000115761.17	transcript	ENST00000381685.10	protein_coding	13/20			chr2	TogoVar
NOL10_chr2_10565754_10694975	10638330	G G	GACGTAAC others(13): Show GACGTAACGTAACGTAACGTA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0351 a0001c0002t0002g0351	1	372	0.0027	20	c.102 others(39): Show c.1026+5970_1026+5989dupTACGTTACGTTACGTTACGT	NOL10	ENSG00000115761.17	transcript	ENST00000381685.10	protein_coding	13/20			chr2	TogoVar
NOL10_chr2_10565754_10694975	10690415	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 NA19007.hp2 HG01433.hp1 NA19007.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0134 a0002c0003t0003g0142 a0002c0003t0003g0134 a0002c0003t0003g0142	2	372	0.0054	20	c.-55 others(29): Show c.-555_-554insTTTTTTTTTTTTTTTTTTTT	NOL10	ENSG00000115761.17	transcript	ENST00000381685.10	protein_coding		441		chr2	TogoVar
NOL4L_chr20_32438059_32590333	32485058	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02572.hp2 HG02723.hp1 others(6): Show HG01981.hp1 HG02572.hp2 HG02723.hp1 HG02970.hp1 HG03130.hp1 HG03239.hp1 HG03491.hp1 HG03492.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0007t0005	a0001c0001t0001g0143 a0001c0001t0001g0178 a0001c0001t0001g0187 others(6): Show a0001c0001t0001g0143 a0001c0001t0001g0178 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0003g0085 a0001c0001t0003g0131 a0001c0001t0005g0029 a0001c0001t0005g0091 a0001c0007t0005g0194	9	196	0.0459	20	c.700 others(39): Show c.700-10336_700-10317dupTTTTTTTTTTTTTTTTTTTT	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	4/10			chr20	TogoVar
NOL4L_chr20_32438059_32590333	32578108	A A	AAAGGAAG others(13): Show AAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0112 a0001c0001t0011g0112	1	196	0.0051	20	c.321 others(37): Show c.321+6442_321+6461dupCCTTCCTTCCTTCCTTCCTT	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	1/10			chr20	TogoVar
NOL4L_chr20_32438059_32590333	32578138	A A	AGGAAGGA others(13): Show AGGAAGGAAGGAAGGAAGGAG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00673.hp2 HG01261.hp1 others(15): Show HG00558.hp2 HG00673.hp2 HG01261.hp1 HG01358.hp2 HG01433.hp1 HG01516.hp1 HG01993.hp1 HG02135.hp2 HG02280.hp2 HG03041.hp1 HG03239.hp2 HG03688.hp2 HG03927.hp1 HG04115.hp1 HG06807.hp1 NA18980.hp2 NA18982.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0015 a0001c0001t0019 a0001c0001t0043	a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0100 others(15): Show a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0123 a0001c0001t0001g0138 a0001c0001t0001g0174 a0001c0001t0002g0098 a0001c0001t0003g0107 a0001c0001t0003g0109 a0001c0001t0004g0037 a0001c0001t0004g0148 a0001c0001t0005g0097 a0001c0001t0005g0155 a0001c0001t0015g0099 a0001c0001t0019g0153 a0001c0001t0043g0108	18	196	0.0918	20	c.321 others(37): Show c.321+6431_321+6432insCTCCTTCCTTCCTTCCTTCC	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	1/10			chr20	TogoVar
NOL4L_chr20_32438059_32590333	32578138	A A	AGGAAGGA others(13): Show AGGAAGGAAGGAAGGAGGGAG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG03491.hp1 HG03492.hp2 others(3): Show HG00323.hp1 HG03491.hp1 HG03492.hp2 HG03831.hp2 HG04115.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0019	a0001c0001t0001g0113 a0001c0001t0001g0147 a0001c0001t0003g0073 others(3): Show a0001c0001t0001g0113 a0001c0001t0001g0147 a0001c0001t0003g0073 a0001c0001t0005g0029 a0001c0001t0005g0091 a0001c0001t0019g0074	6	196	0.0306	20	c.321 others(37): Show c.321+6431_321+6432insCTCCCTCCTTCCTTCCTTCC	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	1/10			chr20	TogoVar
NOL4L_chr20_32438059_32590333	32578138	A A	AGGAAGGA others(13): Show AGGAAGGAAGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02451.hp2 HG02630.hp1 others(5): Show HG01167.hp1 HG02451.hp2 HG02630.hp1 HG02818.hp2 HG03195.hp2 HG03486.hp1 NA19043.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008	a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0008 others(5): Show a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0008 a0001c0001t0003g0127 a0001c0001t0003g0132 a0001c0001t0004g0004 a0001c0001t0006g0017 a0001c0001t0008g0126	8	196	0.0408	20	c.321 others(37): Show c.321+6431_321+6432insCTCCCTCCCTCCTTCCTTCC	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	1/10			chr20	TogoVar
NOL4L_chr20_32438059_32590333	32578138	A A	AGGAAGGA others(13): Show AGGAAGGAGGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01243.hp2 HG01255.hp2 others(3): Show HG01123.hp1 HG01243.hp2 HG01255.hp2 HG02257.hp2 HG02486.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0047 a0001c0004t0012 a0001c0001t0001 a0001c0001t0047 a0001c0004t0012	a0001c0001t0001g0016 a0001c0001t0001g0069 a0001c0001t0047g0041 others(3): Show a0001c0001t0001g0016 a0001c0001t0001g0069 a0001c0001t0047g0041 a0001c0004t0012g0190 a0001c0004t0012g0192 a0001c0004t0012g0193	6	196	0.0306	20	c.321 others(37): Show c.321+6431_321+6432insCTCCCTCCCTCCCTCCTTCC	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	1/10			chr20	TogoVar
NOL4L_chr20_32438059_32590333	32578139	G G	GGAAGGAA others(13): Show GGAAGGAAGGAGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp2 HG01891.hp2 HG02055.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0007 a0001c0005t0002 a0001c0005t0007	a0001c0005t0002g0039 a0001c0005t0007g0141 a0001c0005t0002g0039 a0001c0005t0007g0141	2	196	0.0102	20	c.321 others(37): Show c.321+6430_321+6431insTCTCCCTCCCTCCTTCCTTC	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	1/10			chr20	TogoVar
NOL4_chr18_33846100_34229913	33983601	C C	CACACATA others(13): Show CACACATATATGCACACATAT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02080.hp2 HG02630.hp2 others(2): Show HG01169.hp1 HG02080.hp2 HG02630.hp2 HG03195.hp2 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0019 a0001c0001t0001g0112 a0001c0001t0001g0122 others(2): Show a0001c0001t0001g0019 a0001c0001t0001g0112 a0001c0001t0001g0122 a0001c0001t0002g0037 a0001c0001t0003g0009	5	168	0.0298	20	c.105 others(41): Show c.1057-25203_1057-25184dupATATGTGTGCATATATGTGT	NOL4	ENSG00000101746.16	transcript	ENST00000261592.10	protein_coding	6/10			chr18	TogoVar
NOL4_chr18_33846100_34229913	34046607	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01123.hp1 HG04204.hp2 others(2): Show HG00323.hp1 HG01123.hp1 HG04204.hp2 NA18986.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0041 a0001c0001t0001g0159 a0001c0001t0001g0163 others(2): Show a0001c0001t0001g0041 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0002g0047 a0001c0001t0006g0005	5	168	0.0298	20	c.773 others(39): Show c.773-27026_773-27007dupATATATATATATATATATAT	NOL4	ENSG00000101746.16	transcript	ENST00000261592.10	protein_coding	5/10			chr18	TogoVar
NOL4_chr18_33846100_34229913	34099362	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02132.hp1 HG03704.hp1 HG00323.hp1 HG02132.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0073 a0001c0001t0002g0047 a0001c0001t0002g0162 a0001c0001t0001g0073 a0001c0001t0002g0047 a0001c0001t0002g0162	3	168	0.0179	20	c.639 others(37): Show c.639+4684_639+4685insTTTTTTTTTTTTTTTTTTTT	NOL4	ENSG00000101746.16	transcript	ENST00000261592.10	protein_coding	4/10			chr18	TogoVar
NOL4_chr18_33846100_34229913	34167532	T T	TTAGATAG others(13): Show TTAGATAGATAGATAGATAGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01175.hp2 HG01433.hp2 others(8): Show HG00099.hp1 HG01175.hp2 HG01433.hp2 HG01891.hp1 HG02132.hp2 HG02895.hp1 HG02897.hp2 HG03209.hp2 HG03453.hp1 HG03704.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0061 a0001c0001t0001g0066 a0001c0001t0001g0080 others(8): Show a0001c0001t0001g0061 a0001c0001t0001g0066 a0001c0001t0001g0080 a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0122 a0001c0001t0001g0132 a0001c0001t0002g0091 a0001c0001t0002g0095 a0001c0001t0002g0162	11	168	0.0655	20	c.265 others(39): Show c.265-37532_265-37513dupTCTATCTATCTATCTATCTA	NOL4	ENSG00000101746.16	transcript	ENST00000261592.10	protein_coding	1/10			chr18	TogoVar
NOL4_chr18_33846100_34229913	34167561	T T	TAGATAGA others(13): Show TAGATAGATAGATAGATAGAC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0087 a0001c0001t0003g0087	1	168	0.0060	20	c.265 others(39): Show c.265-37542_265-37541insGTCTATCTATCTATCTATCT	NOL4	ENSG00000101746.16	transcript	ENST00000261592.10	protein_coding	1/10			chr18	TogoVar
NOL4_chr18_33846100_34229913	34203717	T T	TCTCTCTC others(13): Show TCTCTCTCTCACACACACACA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	168	0.0060	20	c.264 others(39): Show c.264+19272_264+19273insTGTGTGTGTGTGAGAGAGAG	NOL4	ENSG00000101746.16	transcript	ENST00000261592.10	protein_coding	1/10			chr18	TogoVar
NOL9_chr1_6516347_6559513	6556385	T T	TTCTATCT others(13): Show TTCTATCTATCTATCTATCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0073 a0002c0004t0073	a0002c0004t0073g0034 a0002c0004t0073g0034	1	340	0.0029	20	c.-19 others(31): Show c.-1903_-1884dupTAGATAGATAGATAGATAGA	NOL9	ENSG00000162408.11	transcript	ENST00000377705.6	protein_coding		1873		chr1	TogoVar
NOM1_chr7_156944712_156978176	156954522	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02132.hp2 HG02717.hp2 others(5): Show HG02074.hp2 HG02132.hp2 HG02717.hp2 NA18991.hp2 NA18992.hp2 NA18997.hp1 NA19070.hp2 NA20129.hp2	a0003 a0005 a0003 a0005	a0003c0003 a0003c0007 a0005c0006 a0003c0003 a0003c0007 a0005c0006	a0003c0003t0002 a0003c0007t0002 a0005c0006t0002 a0003c0003t0002 a0003c0007t0002 a0005c0006t0002	a0003c0003t0002g0072 a0003c0003t0002g0238 a0003c0003t0002g0241 others(5): Show a0003c0003t0002g0072 a0003c0003t0002g0238 a0003c0003t0002g0241 a0003c0003t0002g0243 a0003c0007t0002g0239 a0003c0007t0002g0240 a0005c0006t0002g0072 a0005c0006t0002g0242	8	426	0.0188	20	c.130 others(37): Show c.1308+225_1308+244dupTTTTTTTTTTTTTTTTTTTT	NOM1	ENSG00000146909.8	transcript	ENST00000275820.4	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
NOP14_chr4_2932936_2968406	2960676	T T	TTATAATC others(13): Show TTATAATCACATTAATATTAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0076 a0002c0002t0011g0076	1	422	0.0024	20	c.195 others(37): Show c.195+2448_195+2449insTTAATATTAATGTGATTATA	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar
NOP16_chr5_176378946_176393598	176390438	G G	GGTGCTGA others(13): Show GGTGCTGAGTTCTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	434	0.0023	20	c.-19 others(31): Show c.-1900_-1899insAAAAAAAAAGAACTCAGCAC	NOP16	ENSG00000048162.22	transcript	ENST00000614830.5	protein_coding		1841		chr5	TogoVar
NOS1AP_chr1_162064691_162375475	162261511	A A	AGAGAAGA others(13): Show AGAGAAGAGAAGAGAAGAGAG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	182	0.0055	20	c.178 others(39): Show c.178-25829_178-25828insAGAGAAGAGAAGAGAGGAGA	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162264468	C C	CTCCTCCC others(13): Show CTCCTCCCCTCCCCTCCCCTG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	182	0.0055	20	c.178 others(39): Show c.178-22876_178-22875insTCCTCCCCTCCCCTCCCCTG	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9			chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162264468	C C	CTCCTCTC others(13): Show CTCCTCTCCTCCCCTCCCCTG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp2 HG01069.hp2 others(11): Show HG00642.hp1 HG00735.hp2 HG01069.hp2 HG01099.hp1 HG01496.hp1 HG01496.hp2 HG01517.hp2 HG01884.hp2 HG01978.hp2 HG02080.hp1 HG02683.hp2 HG02738.hp2 NA18986.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0022 a0001c0002t0001 a0001c0002t0015 a0001c0003t0003	a0001c0001t0001g0056 a0001c0001t0001g0125 a0001c0001t0002g0132 others(11): Show a0001c0001t0001g0056 a0001c0001t0001g0125 a0001c0001t0002g0132 a0001c0001t0002g0139 a0001c0001t0002g0152 a0001c0001t0004g0113 a0001c0001t0022g0129 a0001c0002t0001g0001 a0001c0002t0001g0111 a0001c0002t0001g0120 a0001c0002t0015g0011 a0001c0003t0003g0007 a0001c0003t0003g0117 a0001c0003t0003g0133	14	182	0.0769	20	c.178 others(39): Show c.178-22876_178-22875insTCCTCTCCTCCCCTCCCCTG	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9			chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162294222	A A	AGGAAGGA others(13): Show AGGAAGGAAGGAAGGAAGGAG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01358.hp2 HG02922.hp1 others(2): Show HG01106.hp2 HG01358.hp2 HG02922.hp1 HG03453.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0002t0001 a0001c0002t0009 others(1): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0009 a0001c0003t0003	a0001c0001t0002g0082 a0001c0001t0002g0102 a0001c0002t0001g0097 others(2): Show a0001c0001t0002g0082 a0001c0001t0002g0102 a0001c0002t0001g0097 a0001c0002t0009g0074 a0001c0003t0003g0149	5	182	0.0275	20	c.271 others(37): Show c.271-6406_271-6405insGAAGGAAGGAAGGAGGGAAG	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1_chr12_117203142_117366626	117208391	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01109.hp2 HG01515.hp1 HG01517.hp1 others(7): Show HG01109.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG02451.hp1 HG02738.hp1 HG03225.hp1 NA18973.hp2 NA18989.hp2 NA19082.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0004 a0009c0021 a0001c0001 a0001c0004 a0009c0021	a0001c0001t0023 a0001c0001t0058 a0001c0001t0063 others(5): Show a0001c0001t0023 a0001c0001t0058 a0001c0001t0063 a0001c0001t0065 a0001c0001t0070 a0001c0001t0104 a0001c0004t0034 a0009c0021t0072	a0001c0001t0023g0211 a0001c0001t0023g0258 a0001c0001t0058g0243 others(7): Show a0001c0001t0023g0211 a0001c0001t0023g0258 a0001c0001t0058g0243 a0001c0001t0063g0208 a0001c0001t0065g0240 a0001c0001t0070g0052 a0001c0001t0104g0140 a0001c0004t0034g0266 a0001c0004t0034g0267 a0009c0021t0072g0088	10	294	0.0340	20	c.68 others(31): Show c.6898_*6917dupACACACACACACACACACAC	NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding	29/29	6917		chr12	TogoVar
NOS1_chr12_117203142_117366626	117324715	C C	CTAAATAA others(13): Show CTAAATAAATAAATAAATAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01891.hp2 HG02055.hp1 others(14): Show HG01109.hp1 HG01891.hp2 HG02055.hp1 HG02257.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG02976.hp1 HG03130.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG06807.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0001c0010 a0001c0025	a0001c0001t0033 a0001c0001t0046 a0001c0001t0047 others(13): Show a0001c0001t0033 a0001c0001t0046 a0001c0001t0047 a0001c0001t0101 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0002t0006 a0001c0002t0094 a0001c0002t0163 a0001c0005t0003 a0001c0005t0110 a0001c0008t0183 a0001c0010t0044 a0001c0010t0045 a0001c0025t0010	a0001c0001t0033g0201 a0001c0001t0046g0015 a0001c0001t0047g0014 others(14): Show a0001c0001t0033g0201 a0001c0001t0046g0015 a0001c0001t0047g0014 a0001c0001t0101g0245 a0001c0001t0104g0140 a0001c0001t0105g0138 a0001c0001t0106g0137 a0001c0002t0006g0187 a0001c0002t0006g0206 a0001c0002t0094g0044 a0001c0002t0163g0276 a0001c0005t0003g0207 a0001c0005t0110g0040 a0001c0008t0183g0172 a0001c0010t0044g0011 a0001c0010t0045g0012 a0001c0025t0010g0252	17	294	0.0578	20	c.725 others(37): Show c.725+5610_725+5629dupTTTATTTATTTATTTATTTA	NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding	2/28			chr12	TogoVar
NOS1_chr12_117203142_117366626	117335729	T T	TGAGAGAG others(13): Show TGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02083.hp2 HG02486.hp1 others(9): Show HG01109.hp1 HG02083.hp2 HG02486.hp1 HG02486.hp2 HG03130.hp1 HG03130.hp2 HG03453.hp1 HG03540.hp1 NA18941.hp2 NA18955.hp1 NA19010.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0008	a0001c0001t0002 a0001c0001t0046 a0001c0001t0067 others(9): Show a0001c0001t0002 a0001c0001t0046 a0001c0001t0067 a0001c0001t0125 a0001c0002t0006 a0001c0002t0020 a0001c0003t0157 a0001c0005t0003 a0001c0005t0028 a0001c0005t0110 a0001c0006t0093 a0001c0008t0051	a0001c0001t0002g0076 a0001c0001t0046g0015 a0001c0001t0067g0131 others(9): Show a0001c0001t0002g0076 a0001c0001t0046g0015 a0001c0001t0067g0131 a0001c0001t0125g0166 a0001c0002t0006g0206 a0001c0002t0020g0007 a0001c0003t0157g0050 a0001c0005t0003g0155 a0001c0005t0028g0090 a0001c0005t0110g0040 a0001c0006t0093g0167 a0001c0008t0051g0009	12	294	0.0408	20	c.-42 others(39): Show c.-420-4260_-420-4241dupTCTCTCTCTCTCTCTCTCTC	NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding	1/28			chr12	TogoVar
NOS2_chr17_27751766_27805529	27803120	G G	GAGGAAAG others(13): Show GAGGAAAGGAAAGGAAAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01123.hp2 HG01168.hp1 others(13): Show HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01346.hp1 HG02056.hp2 HG02083.hp2 HG02129.hp2 HG03139.hp1 NA18946.hp2 NA18957.hp1 NA18979.hp1 NA18984.hp1 NA18999.hp2 NA19007.hp1 NA19011.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0012t0001 a0001c0001t0001 a0001c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0043 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0057 a0001c0001t0001g0069 a0001c0001t0001g0108 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0012t0001g0111	16	402	0.0398	20	c.-28 others(31): Show c.-2856_-2855insTTCCTTTCCTTTCCTTTCCT	NOS2	ENSG00000007171.19	transcript	ENST00000313735.11	protein_coding		2592		chr17	TogoVar
NOSIP_chr19_49550468_49585556	49566794	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02818.hp2 HG03486.hp2 HG01346.hp2 HG02818.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233	3	304	0.0099	20	c.-1- others(35): Show c.-1-6103_-1-6102insATATATATATATATATATAT	NOSIP	ENSG00000142546.14	transcript	ENST00000596358.6	protein_coding	1/8			chr19	TogoVar
NOSTRIN_chr2_168797637_168870514	168824768	T T	TTTTGTTT others(13): Show TTTTGTTTGTTTGTTTGTTTG	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	326	0.0031	20	c.197 others(33): Show c.197+55_197+74dupGTTTGTTTGTTTGTTTGTTT	NOSTRIN	ENSG00000163072.16	transcript	ENST00000317647.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
NOSTRIN_chr2_168797637_168870514	168834507	G G	GCGCGCAC others(13): Show GCGCGCACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0175 a0001c0002t0002g0175	1	326	0.0031	20	c.504 others(35): Show c.504+183_504+184insGCGCACACACACACACACAC	NOSTRIN	ENSG00000163072.16	transcript	ENST00000317647.12	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
NOTCH1_chr9_136489433_136551048	136528378	A A	ATGGGCAG others(13): Show ATGGGCAGGGACAGTGGGGGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG01070.hp1 others(36): Show HG00140.hp1 HG00140.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01358.hp1 HG01496.hp2 HG01891.hp1 HG02083.hp2 HG02135.hp2 HG02273.hp2 HG02280.hp2 HG02523.hp2 HG02572.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03654.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03927.hp2 HG03942.hp2 HG04228.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1	a0001 a0007 a0015 others(1): Show a0001 a0007 a0015 a0016	a0001c0001 a0001c0003 a0001c0007 others(12): Show a0001c0001 a0001c0003 a0001c0007 a0001c0008 a0001c0014 a0001c0016 a0001c0018 a0001c0031 a0001c0035 a0001c0036 a0001c0037 a0001c0053 a0007c0022 a0015c0034 a0016c0038	a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 others(19): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0008 a0001c0003t0030 a0001c0007t0006 a0001c0008t0009 a0001c0014t0002 a0001c0016t0004 a0001c0018t0001 a0001c0018t0008 a0001c0031t0001 a0001c0035t0001 a0001c0036t0009 a0001c0037t0002 a0001c0053t0004 a0007c0022t0008 a0015c0034t0014 a0016c0038t0001	a0001c0001t0001g0181 a0001c0001t0004g0128 a0001c0001t0013g0054 others(36): Show a0001c0001t0001g0181 a0001c0001t0004g0128 a0001c0001t0013g0054 a0001c0003t0001g0184 a0001c0003t0001g0200 a0001c0003t0001g0204 a0001c0003t0001g0205 a0001c0003t0001g0209 a0001c0003t0001g0249 a0001c0003t0001g0280 a0001c0003t0001g0287 a0001c0003t0001g0288 a0001c0003t0002g0046 a0001c0003t0002g0051 a0001c0003t0002g0052 a0001c0003t0002g0053 a0001c0003t0003g0319 a0001c0003t0008g0007 a0001c0003t0008g0008 a0001c0003t0008g0011 a0001c0003t0008g0012 a0001c0003t0008g0013 a0001c0003t0030g0283 a0001c0007t0006g0118 a0001c0007t0006g0119 a0001c0008t0009g0318 a0001c0014t0002g0095 a0001c0016t0004g0039 a0001c0018t0001g0193 a0001c0018t0008g0024 a0001c0031t0001g0276 a0001c0035t0001g0199 a0001c0036t0009g0298 a0001c0037t0002g0109 a0001c0053t0004g0176 a0007c0022t0008g0009 a0007c0022t0008g0010 a0015c0034t0014g0087 a0016c0038t0001g0207	39	324	0.1204	20	c.141 others(37): Show c.141-4419_141-4400dupCCCCCCACTGTCCCTGCCCA	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH2NLA_chr1_146143865_146234021	146228485	C C	CGGCGGGG others(13): Show CGGCGGGGAACCCCGGCGGTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00597.hp1 HG01099.hp1 others(8): Show HG00558.hp1 HG00597.hp1 HG01099.hp1 HG02132.hp1 HG03225.hp2 HG03927.hp1 HG04204.hp1 NA18952.hp1 NA19066.hp1 NA19085.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 others(6): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0017 a0001c0001t0018 a0001c0001t0030 a0001c0001t0034 a0001c0003t0009	a0001c0001t0007g0015 a0001c0001t0007g0016 a0001c0001t0008g0023 others(8): Show a0001c0001t0007g0015 a0001c0001t0007g0016 a0001c0001t0008g0023 a0001c0001t0009g0020 a0001c0001t0010g0017 a0001c0001t0010g0018 a0001c0001t0017g0019 a0001c0001t0018g0021 a0001c0001t0030g0022 a0001c0001t0034g0025 a0001c0003t0009g0024	11	60	0.1833	20	c.-45 others(35): Show c.-45+204_-45+223dupAACCGCCGGGGTTCCCCGCC	NOTCH2NLA	ENSG00000264343.7	transcript	ENST00000362074.8	protein_coding	1/4			chr1	TogoVar
NOTCH2NLB_chr1_148595285_148684746	148679238	C C	CGGCGGGG others(13): Show CGGCGGGGAACCCCGGCGGTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG01071.hp2 others(12): Show HG00597.hp1 HG00597.hp2 HG01071.hp2 HG01106.hp2 HG01109.hp1 HG02273.hp1 HG02273.hp2 HG03710.hp2 HG03834.hp2 NA18955.hp1 NA18963.hp1 NA19011.hp2 NA19056.hp2 NA19088.hp1 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0002t0010 a0001c0002t0012 a0002c0003t0001 a0002c0003t0005	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(12): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0009g0011 a0001c0001t0011g0015 a0001c0001t0013g0016 a0001c0001t0014g0013 a0001c0001t0015g0012 a0001c0002t0010g0017 a0001c0002t0012g0006 a0002c0003t0001g0007 a0002c0003t0005g0004	15	36	0.4167	20	c.3+2 others(31): Show c.3+204_3+223dupAACCGCCGGGGTTCCCCGCC	NOTCH2NLB	ENSG00000286019.2	transcript	ENST00000593495.4	protein_coding	1/4			chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149391098	G G	GCCCCGCC others(13): Show GCCCCGCCAACCGCCGGGGTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp1 HG00621.hp2 others(58): Show HG00438.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00735.hp2 HG00738.hp1 HG01346.hp2 HG01952.hp1 HG02040.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp2 HG02155.hp2 HG02165.hp1 HG02273.hp1 HG02602.hp2 HG02698.hp2 HG02723.hp2 HG02818.hp2 HG03704.hp1 HG03831.hp1 HG03942.hp1 HG04115.hp2 HG04204.hp2 NA18612.hp1 NA18747.hp2 NA18940.hp2 NA18946.hp1 NA18949.hp1 NA18951.hp1 NA18953.hp2 NA18954.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18968.hp2 NA18970.hp2 NA18972.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18986.hp2 NA18994.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19011.hp2 NA19054.hp2 NA19058.hp1 NA19062.hp1 NA19063.hp2 NA19077.hp2 NA19078.hp2 NA19082.hp2 NA19091.hp1 NA20752.hp1	a0001 a0005 a0010 others(3): Show a0001 a0005 a0010 a0015 a0024 a0025	a0001c0001 a0005c0005 a0010c0033 others(4): Show a0001c0001 a0005c0005 a0010c0033 a0015c0017 a0015c0032 a0024c0026 a0025c0031	a0001c0001t0002 a0001c0001t0009 a0001c0001t0016 others(15): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0016 a0001c0001t0023 a0001c0001t0024 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0054 a0001c0001t0055 a0005c0005t0007 a0005c0005t0058 a0005c0005t0059 a0010c0033t0002 a0015c0017t0002 a0015c0032t0002 a0024c0026t0002 a0025c0031t0002	a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 others(58): Show a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0009g0016 a0001c0001t0009g0021 a0001c0001t0009g0023 a0001c0001t0009g0030 a0001c0001t0009g0035 a0001c0001t0016g0048 a0001c0001t0016g0055 a0001c0001t0016g0061 a0001c0001t0023g0025 a0001c0001t0023g0037 a0001c0001t0024g0019 a0001c0001t0050g0059 a0001c0001t0051g0029 a0001c0001t0052g0049 a0001c0001t0054g0053 a0001c0001t0055g0062 a0005c0005t0007g0063 a0005c0005t0007g0064 a0005c0005t0007g0065 a0005c0005t0007g0066 a0005c0005t0007g0067 a0005c0005t0007g0068 a0005c0005t0007g0069 a0005c0005t0058g0070 a0005c0005t0059g0071 a0010c0033t0002g0018 a0015c0017t0002g0011 a0015c0017t0002g0046 a0015c0017t0002g0047 a0015c0032t0002g0024 a0024c0026t0002g0017 a0025c0031t0002g0060	61	260	0.2346	20	c.135 others(35): Show c.135+204_135+223dupAACCGCCGGGGTTCCCCGCC	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149460854	C C	CCTTTCTT others(13): Show CCTTTCTTTCTTTCTTTCCTT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02155.hp2 NA18940.hp2 others(7): Show HG02080.hp1 HG02155.hp2 NA18940.hp2 NA18954.hp1 NA18962.hp1 NA18983.hp2 NA18994.hp1 NA18999.hp1 NA19058.hp1 NA19062.hp1	a0001 a0005 a0015 others(1): Show a0001 a0005 a0015 a0025	a0001c0001 a0005c0005 a0015c0032 others(1): Show a0001c0001 a0005c0005 a0015c0032 a0025c0031	a0001c0001t0002 a0001c0001t0009 a0001c0001t0016 others(4): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0016 a0001c0001t0055 a0005c0005t0007 a0015c0032t0002 a0025c0031t0002	a0001c0001t0002g0036 a0001c0001t0002g0052 a0001c0001t0002g0057 others(7): Show a0001c0001t0002g0036 a0001c0001t0002g0052 a0001c0001t0002g0057 a0001c0001t0009g0035 a0001c0001t0016g0048 a0001c0001t0016g0055 a0001c0001t0055g0062 a0005c0005t0007g0069 a0015c0032t0002g0024 a0025c0031t0002g0060	10	260	0.0385	20	c.470 others(37): Show c.470-2620_470-2619insCTTCTTTCTTTCTTTCTTTC	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLR_chr1_120718945_120799851	120752554	A A	ATATATAT others(13): Show ATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0106 a0001c0001t0003g0106	1	164	0.0061	20	c.74- others(37): Show c.74-11073_74-11072insATATATATATATATATTTTT	NOTCH2NLR	ENSG00000286106.3	transcript	ENST00000624419.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLR_chr1_120718945_120799851	120752554	A A	ATATATAT others(13): Show ATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02735.hp2 NA18973.hp2 HG02735.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0135 a0001c0001t0001g0104 a0001c0001t0001g0135	2	164	0.0122	20	c.74- others(37): Show c.74-11073_74-11072insATATATATATATATTTTTTT	NOTCH2NLR	ENSG00000286106.3	transcript	ENST00000624419.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLR_chr1_120718945_120799851	120752554	A A	ATATATAT others(13): Show ATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19070.hp2 NA20905.hp1 NA19001.hp1 NA19070.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0123	3	164	0.0183	20	c.74- others(37): Show c.74-11073_74-11072insATATATATATATTTTTTTTT	NOTCH2NLR	ENSG00000286106.3	transcript	ENST00000624419.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLR_chr1_120718945_120799851	120752554	A A	ATATATAT others(13): Show ATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA19058.hp2 NA18980.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0160 a0001c0001t0001g0082 a0001c0001t0001g0160	2	164	0.0122	20	c.74- others(37): Show c.74-11073_74-11072insATATATATATTTTTTTTTTT	NOTCH2NLR	ENSG00000286106.3	transcript	ENST00000624419.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLR_chr1_120718945_120799851	120752554	A A	ATATATAT others(13): Show ATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	164	0.0061	20	c.74- others(37): Show c.74-11073_74-11072insATATATATTTTTTTTTTTTT	NOTCH2NLR	ENSG00000286106.3	transcript	ENST00000624419.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLR_chr1_120718945_120799851	120795920	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 NA18993.hp1 HG02735.hp2 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0104 a0001c0001t0001g0109	2	164	0.0122	20	c.21 others(31): Show c.2100_*2101insTGTGTGTGTGTGTGTGTGTG	NOTCH2NLR	ENSG00000286106.3	transcript	ENST00000624419.3	protein_coding		1070		chr1	TogoVar
NOTCH2_chr1_119906553_120074662	119963180	T T	TAGGAAGG others(13): Show TAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	168	0.0060	20	c.191 others(37): Show c.1915+374_1915+393dupTCCTTCCTTCCTTCCTTCCT	NOTCH2	ENSG00000134250.21	transcript	ENST00000256646.7	protein_coding	11/33			chr1	TogoVar

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