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
NPIPB4_chr16_21829582_21862756	21837415	AGGAGGTG others(50): Show AGGAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGGGGAGTGAGCA CACACTCG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00423.hp2 HG00423.hp2	a0029 a0029	a0029c0065 a0029c0065	a0029c0065t0001 a0029c0065t0001	a0029c0065t0001g0158 a0029c0065t0001g0158	1	204	0.0049	-57	c.915 others(64): Show c.915_971delCGAGTGTGTGCTCACTCCCCTTCCACCCTCAGCGGATG ATAATCTCAAGACACCTCC	p.Glu others(13): Show p.Glu306_Pro324del	NPIPB4	ENSG00000185864.19	transcript	ENST00000682606.1	protein_coding	8/8	1186/4020	915/3669	305/1222			chr16	TogoVar
NPRL3_chr16_80386_143673	81570	GCACTGAC others(50): Show GCACTGACCCCTTCTTCCCACCACCCTATCTCCAGGAAGGCCTCCTGAAT GCTCCCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG02280.hp1 HG02451.hp1 others(4): Show HG00639.hp2 HG02280.hp1 HG02451.hp1 HG02717.hp2 HG02970.hp2 HG03225.hp2 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0004 a0003c0003 a0001c0001 a0002c0004 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0016 a0002c0004t0002 a0003c0003t0009	a0001c0001t0001g0123 a0001c0001t0001g0289 a0001c0001t0002g0338 others(4): Show a0001c0001t0001g0123 a0001c0001t0001g0289 a0001c0001t0002g0338 a0001c0001t0012g0317 a0001c0001t0016g0142 a0002c0004t0002g0003 a0003c0003t0009g0346	7	350	0.0200	-57	c.50 others(68): Show c.5078_*5134delTGGGGAGCATTCAGGAGGCCTTCCTGGAGATAGG GTGGTGGGAAGAAGGGGTCAGTG		NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding					3815		chr16	TogoVar
NPRL3_chr16_80386_143673	81603	AGGAAGGC others(50): Show AGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACCACCC TATCTCCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0348 a0001c0001t0023g0348	1	350	0.0029	-57	c.50 others(68): Show c.5045_*5101delCGGAGATAGGGTGGTGGGAAGAAGGGGTCAGTGT GGGGAGCATTCAGGAGGCCTTCC		NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding					3782		chr16	TogoVar
NPRL3_chr16_80386_143673	81740	CACACTGA others(50): Show CACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAA TGCTCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0125	1	350	0.0029	-57	c.49 others(68): Show c.4908_*4964delCGGGAGCATTCAGGAGGGCTTCCCGGAGGTAGGG TGGTGGGAAGAAGGGGTCAGTGT		NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding					3645		chr16	TogoVar
NPRL3_chr16_80386_143673	81741	ACACTGAC others(50): Show ACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAAT GCTCCCGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01261.hp2 HG02895.hp1 others(12): Show HG01081.hp2 HG01261.hp2 HG02895.hp1 HG02897.hp1 HG04199.hp1 NA18945.hp1 NA18963.hp2 NA18970.hp2 NA18971.hp2 NA18978.hp1 NA18980.hp1 NA18998.hp1 NA19000.hp1 NA19060.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0004 a0001c0001t0001 a0001c0001t0002 a0001c0002t0004	a0001c0001t0001g0029 a0001c0001t0001g0039 a0001c0001t0001g0060 others(12): Show a0001c0001t0001g0029 a0001c0001t0001g0039 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0103 a0001c0001t0002g0140 a0001c0001t0002g0147 a0001c0001t0002g0223 a0001c0001t0002g0230 a0001c0002t0004g0300	15	350	0.0429	-57	c.49 others(68): Show c.4907_*4963delCCGGGAGCATTCAGGAGGGCTTCCCGGAGGTAGG GTGGTGGGAAGAAGGGGTCAGTG		NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding					3644		chr16	TogoVar
NPRL3_chr16_80386_143673	81743	ACTGACCC others(50): Show ACTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAATGC TCCCGGCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0152	1	350	0.0029	-57	c.49 others(68): Show c.4905_*4961delCGCCGGGAGCATTCAGGAGGGCTTCCCGGAGGTA GGGTGGTGGGAAGAAGGGGTCAG		NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding					3642		chr16	TogoVar
NPRL3_chr16_80386_143673	81975	ACCCCTTC others(50): Show ACCCCTTCTTCCCACCACCCTATCTCCGGGAAGCCCTCCTGAATGCTCCC CACGCTGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG03209.hp2 HG00738.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0320 a0001c0001t0002g0323 a0001c0001t0002g0320 a0001c0001t0002g0323	2	350	0.0057	-57	c.46 others(68): Show c.4673_*4729delCCAGCGTGGGGAGCATTCAGGAGGGCTTCCCGGA GATAGGGTGGTGGGAAGAAGGGG		NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding					3410		chr16	TogoVar
NPRL3_chr16_80386_143673	82111	CCTCCGGG others(50): Show CCTCCGGGAAGCCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCAC CACCCTAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02257.hp1 HG02280.hp1 others(7): Show HG01243.hp1 HG02257.hp1 HG02280.hp1 HG02451.hp1 NA18963.hp2 NA18970.hp2 NA18978.hp1 NA19000.hp1 NA19080.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0003c0003t0009 a0001c0001t0001 a0001c0001t0002 a0003c0003t0009	a0001c0001t0001g0039 a0001c0001t0001g0062 a0001c0001t0001g0078 others(7): Show a0001c0001t0001g0039 a0001c0001t0001g0062 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0091 a0001c0001t0001g0123 a0001c0001t0001g0289 a0001c0001t0002g0156 a0001c0001t0002g0322 a0003c0003t0009g0346	10	350	0.0286	-57	c.45 others(68): Show c.4537_*4593delATAGGGTGGTGGGAAGAAGGGGCCAGCGTGGGGA GCATTCAGGAGGGCTTCCCGGAG		NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding					3274		chr16	TogoVar
NPRL3_chr16_80386_143673	82146	GCCCCTTC others(50): Show GCCCCTTCTTCCCACCACCCTATCTCCGGGAAGCCCTCCTGAATGCTCCC CGCGCTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 NA19030.hp2 HG02717.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0002 a0001c0001t0016	a0001c0001t0002g0244 a0001c0001t0016g0142 a0001c0001t0002g0244 a0001c0001t0016g0142	2	350	0.0057	-57	c.45 others(68): Show c.4502_*4558delTCAGCGCGGGGAGCATTCAGGAGGGCTTCCCGGA GATAGGGTGGTGGGAAGAAGGGG		NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding					3239		chr16	TogoVar
NSUN7_chr4_40744955_40816184	40757594	GTGTGTAT others(50): Show GTGTGTATATATATACATTGTGTGTATATATATATACATTGTGTGTATAT ATATACAT	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0230 a0001c0001t0039g0230	1	392	0.0026	-57	c.299 others(74): Show c.299-2806_299-2750delTACATTGTGTGTATATATATACATTGTG TATATATATACATTGTGTGTATATATATA		NSUN7	ENSG00000179299.17	transcript	ENST00000381782.7	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr4	TogoVar
NTM_chr11_131365615_132341822	131789490	GAGGAAAG others(50): Show GAGGAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	86	0.0116	-57	c.83- others(76): Show c.83-122072_83-122016delGGAAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAA		NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
NUS1_chr6_117670469_117715727	117714057	GGTGATGC others(50): Show GGTGATGCCTTTAATTATTTTAAAGGAAATAATCAGTTTCCCTACTGCCT ACTCTTCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0008 a0001c0001t0015g0008	1	430	0.0023	-57	c.70 others(68): Show c.7043_*7099delGTGATGCCTTTAATTATTTTAAAGGAAATAATCA GTTTCCCTACTGCCTACTCTTCT		NUS1	ENSG00000153989.8	transcript	ENST00000368494.4	protein_coding					3331		chr6	TogoVar
NXN_chr17_794310_984776	893826	TGGAAGCC others(50): Show TGGAAGCCAGAGGAAGCATCTCAACTCCCTGGAAGCCAGAGGAAGCATCT CAACCCCC	T T	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0158 a0001c0002t0004g0158	1	242	0.0041	-57	c.361 others(76): Show c.361-67805_361-67749delGGGGGTTGAGATGCTTCCTCTGGCTT CCAGGGAGTTGAGATGCTTCCTCTGGCTTCC		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
NXN_chr17_794310_984776	893912	TGGAAGCC others(50): Show TGGAAGCCAGAGGAAGCAACTCAACTCCCTGGAAGCCAGAGGAAGCATCT CAACCCCC	T T	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18964.hp2 NA19060.hp2 NA18955.hp1 NA18964.hp2 NA19060.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0004c0008t0002 a0001c0001t0001 a0001c0001t0002 a0004c0008t0002	a0001c0001t0001g0138 a0001c0001t0002g0083 a0004c0008t0002g0150 a0001c0001t0001g0138 a0001c0001t0002g0083 a0004c0008t0002g0150	3	242	0.0124	-57	c.361 others(76): Show c.361-67891_361-67835delGGGGGTTGAGATGCTTCCTCTGGCTT CCAGGGAGTTGAGTTGCTTCCTCTGGCTTCC		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
NXN_chr17_794310_984776	941076	CGAACAAG others(50): Show CGAACAAGATTCCAGGGTGCAGCCATGAACTCACATCACACCTTCCTGGA TTTACAGT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01192.hp2 HG01433.hp2 others(27): Show HG00597.hp1 HG01192.hp2 HG01433.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG02055.hp1 HG02132.hp1 HG02451.hp2 HG02630.hp1 HG02630.hp2 HG02723.hp2 HG02970.hp1 HG03041.hp2 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04199.hp1 NA18612.hp1 NA18747.hp1 NA18948.hp2 NA18951.hp1 NA18955.hp1 NA18984.hp2 NA19066.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0016 a0001c0001t0021 a0001c0001t0029 a0001c0002t0004 a0001c0003t0008 a0001c0004t0002	a0001c0001t0001g0062 a0001c0001t0001g0068 a0001c0001t0001g0069 others(27): Show a0001c0001t0001g0062 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0001g0116 a0001c0001t0001g0138 a0001c0001t0001g0171 a0001c0001t0001g0187 a0001c0001t0001g0211 a0001c0001t0002g0056 a0001c0001t0002g0105 a0001c0001t0002g0112 a0001c0001t0002g0119 a0001c0001t0002g0148 a0001c0001t0002g0188 a0001c0001t0002g0194 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0003g0027 a0001c0001t0003g0117 a0001c0001t0003g0208 a0001c0001t0004g0041 a0001c0001t0004g0096 a0001c0001t0016g0001 a0001c0001t0021g0019 a0001c0001t0029g0134 a0001c0002t0004g0016 a0001c0003t0008g0179 a0001c0004t0002g0232	30	242	0.1240	-57	c.360 others(76): Show c.360+38186_360+38242delACTGTAAATCCAGGAAGGTGTGATGT GAGTTCATGGCTGCACCCTGGAATCTTGTTC		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
NXN_chr17_794310_984776	941290	TCCTGGAT others(50): Show TCCTGGATTTACAGCGAACAAGATTCCAGGGCGCAGCCATGAATTCACCA CACACCTC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01243.hp2 HG01346.hp1 others(18): Show HG00621.hp1 HG01243.hp2 HG01346.hp1 HG02015.hp2 HG02071.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02486.hp2 HG02965.hp1 HG03041.hp1 HG03130.hp2 HG03516.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA19000.hp1 NA19012.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0012 a0001c0001t0024 a0001c0001t0025 a0001c0002t0004 a0001c0002t0009	a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0090 others(18): Show a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0090 a0001c0001t0001g0124 a0001c0001t0001g0201 a0001c0001t0001g0222 a0001c0001t0001g0229 a0001c0001t0002g0133 a0001c0001t0002g0178 a0001c0001t0003g0078 a0001c0001t0003g0193 a0001c0001t0003g0210 a0001c0001t0004g0155 a0001c0001t0006g0168 a0001c0001t0010g0006 a0001c0001t0012g0018 a0001c0001t0024g0011 a0001c0001t0025g0200 a0001c0002t0004g0158 a0001c0002t0009g0008 a0001c0002t0009g0009	21	242	0.0868	-57	c.360 others(76): Show c.360+37972_360+38028delGAGGTGTGTGGTGAATTCATGGCTGC GCCCTGGAATCTTGTTCGCTGTAAATCCAGG		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
NXN_chr17_794310_984776	941511	AACACCTC others(50): Show AACACCTCCCTGGATTTACAGTGAACAAGATTCCAGGGTGCAGCCATGAA CTCACATC	A A	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	242	0.0041	-57	c.360 others(76): Show c.360+37751_360+37807delGATGTGAGTTCATGGCTGCACCCTGG AATCTTGTTCACTGTAAATCCAGGGAGGTGT		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
NXN_chr17_794310_984776	941575	TCCTGGAT others(50): Show TCCTGGATTTACAGCGAACAAGATTCCAGGGTGCAGCCATGAATTCACCA AACACCTC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02451.hp1 HG00639.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0075 a0001c0001t0005g0032 a0001c0001t0001g0075 a0001c0001t0005g0032	2	242	0.0083	-57	c.360 others(76): Show c.360+37687_360+37743delGAGGTGTTTGGTGAATTCATGGCTGC ACCCTGGAATCTTGTTCGCTGTAAATCCAGG		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
NXN_chr17_794310_984776	941607	GCAGCCAT others(50): Show GCAGCCATGAATTCACCAAACACCTCCCTGGATTTACAGCGAACAAGATT CCAGGGCA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02486.hp1 HG02965.hp2 others(8): Show HG02055.hp2 HG02486.hp1 HG02965.hp2 HG03516.hp1 HG06807.hp1 NA18612.hp2 NA18943.hp1 NA18943.hp2 NA19011.hp1 NA19066.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0017 a0001c0001t0001g0047 a0001c0001t0001g0049 others(8): Show a0001c0001t0001g0017 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0177 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0002g0053 a0001c0001t0002g0102 a0001c0001t0002g0170 a0001c0001t0002g0212 a0001c0001t0005g0048	11	242	0.0455	-57	c.360 others(76): Show c.360+37655_360+37711delTGCCCTGGAATCTTGTTCGCTGTAAA TCCAGGGAGGTGTTTGGTGAATTCATGGCTG		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
NXN_chr17_794310_984776	941689	TCCTGGAT others(50): Show TCCTGGATTTACAGTGAACAAGATTCCAGGGTGCAGCCATGAATTCACCA AACACCTC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01243.hp2 HG01346.hp1 others(18): Show HG00621.hp1 HG01243.hp2 HG01346.hp1 HG02015.hp2 HG02071.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02486.hp2 HG02965.hp1 HG03041.hp1 HG03130.hp2 HG03516.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA19000.hp1 NA19012.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0012 a0001c0001t0024 a0001c0001t0025 a0001c0002t0004 a0001c0002t0009	a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0090 others(18): Show a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0090 a0001c0001t0001g0124 a0001c0001t0001g0201 a0001c0001t0001g0222 a0001c0001t0001g0229 a0001c0001t0002g0133 a0001c0001t0002g0178 a0001c0001t0003g0078 a0001c0001t0003g0193 a0001c0001t0003g0210 a0001c0001t0004g0155 a0001c0001t0006g0168 a0001c0001t0010g0006 a0001c0001t0012g0018 a0001c0001t0024g0011 a0001c0001t0025g0200 a0001c0002t0004g0158 a0001c0002t0009g0008 a0001c0002t0009g0009	21	242	0.0868	-57	c.360 others(76): Show c.360+37573_360+37629delGAGGTGTTTGGTGAATTCATGGCTGC ACCCTGGAATCTTGTTCACTGTAAATCCAGG		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
NXN_chr17_794310_984776	941910	CACACCTT others(50): Show CACACCTTCCTGGATTTACAGCGAACAAGATTCCAGGGTGCAGCCATGAA TTCACCAA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01346.hp1 HG02257.hp2 others(9): Show HG01243.hp2 HG01346.hp1 HG02257.hp2 HG02486.hp2 HG02965.hp1 HG03041.hp1 HG03130.hp2 HG03516.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0024 a0001c0001t0025 a0001c0002t0004 a0001c0002t0009	a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0201 others(9): Show a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0201 a0001c0001t0001g0222 a0001c0001t0001g0229 a0001c0001t0002g0178 a0001c0001t0012g0018 a0001c0001t0024g0011 a0001c0001t0025g0200 a0001c0002t0004g0158 a0001c0002t0009g0008 a0001c0002t0009g0009	12	242	0.0496	-57	c.360 others(76): Show c.360+37352_360+37408delTTGGTGAATTCATGGCTGCACCCTGG AATCTTGTTCGCTGTAAATCCAGGAAGGTGT		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
NXN_chr17_794310_984776	941927	ACAGCGAA others(50): Show ACAGCGAACAAGATTCCAGGGTGCAGCCATGAATTCACCAAACACCTCCC TGGATTTC	A A	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0113 a0001c0001t0014g0113	1	242	0.0041	-57	c.360 others(76): Show c.360+37335_360+37391delGAAATCCAGGGAGGTGTTTGGTGAAT TCATGGCTGCACCCTGGAATCTTGTTCGCTG		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
NXN_chr17_794310_984776	941931	CGAACAAG others(50): Show CGAACAAGATTCCAGGGTGCAGCCATGAATTCACCAAACACCTCCCTGGA TTTCCAGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp1 HG00621.hp2 others(51): Show HG00099.hp1 HG00544.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01169.hp1 HG01192.hp1 HG01496.hp2 HG01978.hp2 HG02015.hp1 HG02071.hp2 HG02683.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18747.hp2 NA18939.hp1 NA18955.hp2 NA18964.hp1 NA18964.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18980.hp2 NA18983.hp2 NA18995.hp2 NA19007.hp1 NA19010.hp2 NA19060.hp1 NA19060.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0007 a0004c0008 a0001c0001 a0001c0007 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0017 a0001c0001t0020 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0007t0001 a0004c0008t0002	a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0046 others(51): Show a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0046 a0001c0001t0001g0071 a0001c0001t0001g0107 a0001c0001t0001g0131 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0154 a0001c0001t0001g0166 a0001c0001t0001g0189 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0221 a0001c0001t0002g0031 a0001c0001t0002g0035 a0001c0001t0002g0050 a0001c0001t0002g0067 a0001c0001t0002g0083 a0001c0001t0002g0087 a0001c0001t0002g0095 a0001c0001t0002g0128 a0001c0001t0002g0149 a0001c0001t0002g0167 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0207 a0001c0001t0003g0058 a0001c0001t0003g0085 a0001c0001t0003g0097 a0001c0001t0003g0153 a0001c0001t0003g0157 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0205 a0001c0001t0004g0129 a0001c0001t0004g0224 a0001c0001t0005g0054 a0001c0001t0005g0059 a0001c0001t0005g0132 a0001c0001t0005g0209 a0001c0001t0006g0144 a0001c0001t0006g0172 a0001c0001t0006g0184 a0001c0001t0008g0176 a0001c0001t0010g0003 a0001c0001t0017g0002 a0001c0001t0020g0164 a0001c0001t0028g0091 a0001c0001t0030g0237 a0001c0001t0031g0238 a0001c0007t0001g0089 a0004c0008t0002g0150	54	242	0.2231	-57	c.360 others(76): Show c.360+37331_360+37387delACTGGAAATCCAGGGAGGTGTTTGGT GAATTCATGGCTGCACCCTGGAATCTTGTTC		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
NXN_chr17_794310_984776	942024	CACACCTT others(50): Show CACACCTTCCTGGATTTACAGTGAACAAGATTCCAGGGTGCAGCCATGAA TTCACCAA	C C	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	242	0.0041	-57	c.360 others(76): Show c.360+37238_360+37294delTTGGTGAATTCATGGCTGCACCCTGG AATCTTGTTCACTGTAAATCCAGGAAGGTGT		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
NXN_chr17_794310_984776	942309	AACACCTC others(50): Show AACACCTCCCTGGATTTACAGTGAACAAGATTCCAGGGTGCAGCCATGAA CTCACATC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0136 a0001c0001t0002g0136	1	242	0.0041	-57	c.360 others(76): Show c.360+36953_360+37009delGATGTGAGTTCATGGCTGCACCCTGG AATCTTGTTCACTGTAAATCCAGGGAGGTGT		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
NXN_chr17_794310_984776	942365	TCACACCT others(50): Show TCACACCTTCCTGGATTTACAGTGAACAAGATTCCAGGGTGCAGCCATGA ATTCACCA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02723.hp2 HG02970.hp1 HG02055.hp1 HG02723.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0003t0008 a0001c0001t0001 a0001c0001t0003 a0001c0003t0008	a0001c0001t0001g0101 a0001c0001t0003g0027 a0001c0003t0008g0179 a0001c0001t0001g0101 a0001c0001t0003g0027 a0001c0003t0008g0179	3	242	0.0124	-57	c.360 others(76): Show c.360+36897_360+36953delTGGTGAATTCATGGCTGCACCCTGGA ATCTTGTTCACTGTAAATCCAGGAAGGTGTG		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
NXN_chr17_794310_984776	942461	TGCAGCCA others(50): Show TGCAGCCATGAATTCACCAAACACCTCCCTGGATTTACAGCGAACAAGAT TCCAGGGC	T T	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0207 a0001c0001t0002g0207	1	242	0.0041	-57	c.360 others(76): Show c.360+36801_360+36857delGCCCTGGAATCTTGTTCGCTGTAAAT CCAGGGAGGTGTTTGGTGAATTCATGGCTGC		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
NXN_chr17_794310_984776	942632	TGCAGCCA others(50): Show TGCAGCCATGAACTCACATCACACCTTCCTGGATTTACAGCGAACAAGAT TCCAGGGC	T T	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	242	0.0041	-57	c.360 others(76): Show c.360+36630_360+36686delGCCCTGGAATCTTGTTCGCTGTAAAT CCAGGAAGGTGTGATGTGAGTTCATGGCTGC		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
NXN_chr17_794310_984776	942772	CCCTGGAT others(50): Show CCCTGGATTTACAGTGAACAAGATTCCAGGGTGCAGCCATGAACTCACAT CACACCTT	C C	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0011 a0001c0001t0024g0011	1	242	0.0041	-57	c.360 others(76): Show c.360+36490_360+36546delAAGGTGTGATGTGAGTTCATGGCTGC ACCCTGGAATCTTGTTCACTGTAAATCCAGG		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
NXN_chr17_794310_984776	942886	CCCTGGAT others(50): Show CCCTGGATTTACAGTGAACAAGATTCCAGGGTGCAGCCATGAACTCACAT CACACCTT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02015.hp2 HG02055.hp1 others(22): Show HG00621.hp1 HG02015.hp2 HG02055.hp1 HG02071.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02451.hp1 HG02723.hp2 HG02970.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG06807.hp2 NA18612.hp2 NA18943.hp1 NA18943.hp2 NA18995.hp2 NA19000.hp1 NA19011.hp1 NA19012.hp2 NA19066.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0024 a0001c0003t0008	a0001c0001t0001g0049 a0001c0001t0001g0075 a0001c0001t0001g0090 others(22): Show a0001c0001t0001g0049 a0001c0001t0001g0075 a0001c0001t0001g0090 a0001c0001t0001g0101 a0001c0001t0001g0124 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0001t0002g0102 a0001c0001t0002g0112 a0001c0001t0002g0133 a0001c0001t0002g0148 a0001c0001t0002g0170 a0001c0001t0002g0207 a0001c0001t0002g0212 a0001c0001t0003g0027 a0001c0001t0003g0065 a0001c0001t0003g0078 a0001c0001t0003g0193 a0001c0001t0003g0210 a0001c0001t0004g0155 a0001c0001t0005g0048 a0001c0001t0006g0168 a0001c0001t0010g0006 a0001c0001t0024g0011 a0001c0003t0008g0179	25	242	0.1033	-57	c.360 others(76): Show c.360+36376_360+36432delAAGGTGTGATGTGAGTTCATGGCTGC ACCCTGGAATCTTGTTCACTGTAAATCCAGG		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
NXN_chr17_794310_984776	949278	CCTGCCTC others(50): Show CCTGCCTCCTCCTCTCCCCGCTGCCTCCTCCTCTCCCCGCGGCCTCCTCC TCTCCCCG	C C	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	242	0.0041	-57	c.360 others(76): Show c.360+29984_360+30040delCGGGGAGAGGAGGAGGCCGCGGGGAG AGGAGGAGGCAGCGGGGAGAGGAGGAGGCAG		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
NXN_chr17_794310_984776	949280	TGCCTCCT others(50): Show TGCCTCCTCCTCTCCCCGCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTC TCCCCGCG	T T	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0212 a0001c0001t0002g0212	1	242	0.0041	-57	c.360 others(76): Show c.360+29982_360+30038delCGCGGGGAGAGGAGGAGGCCGCGGGG AGAGGAGGAGGCAGCGGGGAGAGGAGGAGGC		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
NYAP2_chr2_225394710_225708654	225538773	TTTTCTTT others(50): Show TTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00438.hp1 others(32): Show HG00280.hp1 HG00323.hp1 HG00438.hp1 HG00558.hp2 HG00597.hp1 HG00639.hp1 HG00735.hp1 HG00741.hp1 HG01169.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01934.hp2 HG01981.hp1 HG02056.hp1 HG02083.hp1 HG02257.hp1 HG02300.hp2 HG02717.hp1 HG03669.hp1 NA18941.hp1 NA18942.hp1 NA18947.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18964.hp2 NA18972.hp1 NA18975.hp1 NA18977.hp1 NA18988.hp2 NA19004.hp2 NA19062.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0019 a0001c0001t0022 a0001c0002t0013 a0001c0002t0037 a0001c0003t0005 a0001c0005t0005 a0001c0005t0012	a0001c0001t0001g0105 a0001c0001t0002g0185 a0001c0001t0003g0039 others(32): Show a0001c0001t0001g0105 a0001c0001t0002g0185 a0001c0001t0003g0039 a0001c0001t0003g0041 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0071 a0001c0001t0003g0077 a0001c0001t0003g0079 a0001c0001t0003g0083 a0001c0001t0003g0089 a0001c0001t0003g0181 a0001c0001t0004g0044 a0001c0001t0019g0028 a0001c0001t0019g0087 a0001c0001t0022g0092 a0001c0002t0013g0175 a0001c0002t0013g0177 a0001c0002t0037g0030 a0001c0003t0005g0169 a0001c0005t0005g0136 a0001c0005t0005g0138 a0001c0005t0005g0144 a0001c0005t0005g0152 a0001c0005t0005g0153 a0001c0005t0005g0154 a0001c0005t0005g0156 a0001c0005t0012g0133 a0001c0005t0012g0134 a0001c0005t0012g0135	35	192	0.1823	-57	c.523 others(76): Show c.523+25109_523+25165delTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT		NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
OPCML_chr11_132409981_133537501	133140991	AGAAGAAG others(50): Show AGAAGAAGACGACGACGACGACGACGACGACGACGACGACGACGACGACG ACGACGAC	A A	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01516.hp2 HG02451.hp2 others(2): Show HG01258.hp1 HG01516.hp2 HG02451.hp2 HG03130.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0001c0001t0017 a0001c0001t0022	a0001c0001t0001g0035 a0001c0001t0002g0009 a0001c0001t0016g0012 others(2): Show a0001c0001t0001g0035 a0001c0001t0002g0009 a0001c0001t0016g0012 a0001c0001t0017g0052 a0001c0001t0022g0014	5	68	0.0735	-57	c.62- others(76): Show c.62-198038_62-197982delGTCGTCGTCGTCGTCGTCGTCGTCGT CGTCGTCGTCGTCGTCGTCGTCGTCTTCTTC		OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7						chr11	TogoVar
OPHN1_chrX_68037344_68438495	68325504	AGATGTCT others(50): Show AGATGTCTATCTCATACCATACACAAAAATAAAACTACATGGATTATAAT CTAAATGT	A A	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	155	0.0065	-57	c.155 others(76): Show c.155-26465_155-26409delACATTTAGATTATAATCCATGTAGTT TTATTTTTGTGTATGGTATGAGATAGACATC		OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24						chrX	TogoVar
OR1A1_chr17_3202667_3223896	3221665	TATAATAT others(50): Show TATAATATATTATATATTATTATATATTATATAATACATTATATATTATT ATATATTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0025 a0001c0008t0025	a0001c0008t0025g0059 a0001c0008t0025g0059	1	434	0.0023	-57	c.51 others(68): Show c.5116_*5172delATAATATATTATATATTATTATATATTATATAAT ACATTATATATTATTATATATTA		OR1A1	ENSG00000172146.4	transcript	ENST00000641732.2	protein_coding					2770		chr17	TogoVar
OR2V2_chr5_181142586_181164285	181160724	GTCACTGG others(50): Show GTCACTGGGGGTGGGGCCAGGACGAGCATCGTCACTGGGGGTGGGGCCAG GACGAGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(164): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02602.hp1 HG02622.hp2 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02922.hp1 HG03017.hp2 HG03098.hp2 HG03453.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1 NA18522.hp2 NA18906.hp2 NA18940.hp2 NA18943.hp2 NA18945.hp2 NA18947.hp1 NA18949.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18960.hp2 NA18961.hp2 NA18963.hp1 NA18965.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18972.hp2 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18986.hp1 NA18991.hp1 NA18993.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp2 NA19054.hp1 NA19055.hp2 NA19056.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19081.hp1 NA19081.hp2 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0007 a0001c0001 a0002c0002 a0006c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(37): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0019 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0031 a0001c0001t0036 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0048 a0001c0001t0071 a0001c0001t0079 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0101 a0001c0001t0106 a0001c0001t0107 a0002c0002t0001 a0002c0002t0011 a0002c0002t0047 a0006c0007t0003	a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0011 others(62): Show a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0011 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0031 a0001c0001t0002g0056 a0001c0001t0002g0063 a0001c0001t0002g0066 a0001c0001t0003g0001 a0001c0001t0003g0011 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0057 a0001c0001t0005g0001 a0001c0001t0005g0011 a0001c0001t0005g0023 a0001c0001t0007g0001 a0001c0001t0007g0031 a0001c0001t0019g0001 a0001c0001t0019g0023 a0001c0001t0023g0001 a0001c0001t0024g0008 a0001c0001t0026g0001 a0001c0001t0031g0006 a0001c0001t0031g0034 a0001c0001t0036g0006 a0001c0001t0041g0008 a0001c0001t0042g0008 a0001c0001t0042g0059 a0001c0001t0043g0001 a0001c0001t0043g0065 a0001c0001t0044g0001 a0001c0001t0045g0001 a0001c0001t0046g0008 a0001c0001t0046g0060 a0001c0001t0048g0030 a0001c0001t0048g0061 a0001c0001t0071g0081 a0001c0001t0079g0008 a0001c0001t0082g0001 a0001c0001t0083g0001 a0001c0001t0084g0001 a0001c0001t0086g0001 a0001c0001t0087g0001 a0001c0001t0088g0001 a0001c0001t0089g0001 a0001c0001t0091g0001 a0001c0001t0092g0001 a0001c0001t0093g0062 a0001c0001t0095g0001 a0001c0001t0096g0001 a0001c0001t0097g0001 a0001c0001t0098g0001 a0001c0001t0101g0008 a0001c0001t0106g0030 a0001c0001t0107g0008 a0002c0002t0001g0002 a0002c0002t0001g0022 a0002c0002t0001g0040 a0002c0002t0011g0012 a0002c0002t0011g0027 a0002c0002t0011g0052 a0002c0002t0047g0002 a0006c0007t0003g0001	167	424	0.3939	-57	c.48 others(68): Show c.4835_*4891delTCACTGGGGGTGGGGCCAGGACGAGCATCGTCAC TGGGGGTGGGGCCAGGACGAGCA		OR2V2	ENSG00000182613.3	transcript	ENST00000641492.1	protein_coding					1440		chr5	TogoVar
OR2V2_chr5_181142586_181164285	181160754	GTCACTGG others(50): Show GTCACTGGGGGTGGGGCCAGGACGAGCATCGTCACTGGGGGTGGGGCCAG GACGAGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01168.hp2 HG01175.hp2 others(16): Show HG00642.hp1 HG01168.hp2 HG01175.hp2 HG01928.hp2 HG01934.hp1 HG01993.hp1 HG02257.hp1 HG02300.hp2 HG02559.hp2 HG02622.hp1 HG02717.hp1 HG02922.hp2 HG03239.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG04204.hp1 NA20300.hp2 NA20805.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0001 a0002c0002 a0004c0004 others(1): Show a0001c0001 a0002c0002 a0004c0004 a0007c0008	a0001c0001t0015 a0001c0001t0022 a0001c0001t0073 others(5): Show a0001c0001t0015 a0001c0001t0022 a0001c0001t0073 a0002c0002t0001 a0002c0002t0011 a0004c0004t0034 a0004c0004t0035 a0007c0008t0022	a0001c0001t0015g0006 a0001c0001t0022g0006 a0001c0001t0022g0076 others(7): Show a0001c0001t0015g0006 a0001c0001t0022g0006 a0001c0001t0022g0076 a0001c0001t0073g0006 a0002c0002t0001g0002 a0002c0002t0011g0012 a0004c0004t0034g0015 a0004c0004t0034g0089 a0004c0004t0035g0015 a0007c0008t0022g0006	19	424	0.0448	-57	c.48 others(68): Show c.4865_*4921delTCACTGGGGGTGGGGCCAGGACGAGCATCGTCAC TGGGGGTGGGGCCAGGACGAGCA		OR2V2	ENSG00000182613.3	transcript	ENST00000641492.1	protein_coding					1470		chr5	TogoVar
OR4F5_chr1_60419_76585	66258	AATATAAA others(50): Show AATATAAATATAATATAAATTATATTATATAATATATAATATAAATATAA TATAAATT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0004 a0004c0003t0004	a0004c0003t0004g0060 a0004c0003t0004g0060	1	215	0.0047	-57	c.9+7 others(68): Show c.9+702_9+758delAATTATATTATATAATATATAATATAAATATAAT ATAAATTATATAAATATAATATA		OR4F5	ENSG00000186092.7	transcript	ENST00000641515.2	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr1	TogoVar
OR52N2_chr11_5803924_5826483	5808285	GCATGAGA others(50): Show GCATGAGACTTAGGGGACTATCAGGTGGTATATCTTTGTTACTATTCATA TCCTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00438.hp1 others(72): Show HG00140.hp2 HG00408.hp1 HG00438.hp1 HG00639.hp1 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01261.hp2 HG01358.hp1 HG01516.hp2 HG01943.hp2 HG01981.hp2 HG02004.hp2 HG02027.hp2 HG02055.hp2 HG02080.hp2 HG02109.hp1 HG02129.hp2 HG02148.hp2 HG02257.hp1 HG02559.hp2 HG02602.hp2 HG02738.hp2 HG02809.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03239.hp1 HG03491.hp2 HG03492.hp2 HG03710.hp2 HG04228.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18947.hp2 NA18954.hp2 NA18963.hp2 NA18966.hp1 NA18968.hp1 NA18970.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18995.hp1 NA19000.hp1 NA19004.hp1 NA19005.hp2 NA19011.hp2 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19063.hp2 NA19064.hp1 NA19068.hp1 NA19086.hp1 NA19091.hp1 NA19091.hp2 NA20300.hp2 NA20905.hp2	a0001 a0008 a0001 a0008	a0001c0002 a0001c0003 a0008c0012 a0001c0002 a0001c0003 a0008c0012	a0001c0002t0003 a0001c0002t0009 a0001c0002t0010 others(2): Show a0001c0002t0003 a0001c0002t0009 a0001c0002t0010 a0001c0003t0002 a0008c0012t0003	a0001c0002t0003g0002 a0001c0002t0003g0009 a0001c0002t0003g0023 others(9): Show a0001c0002t0003g0002 a0001c0002t0003g0009 a0001c0002t0003g0023 a0001c0002t0003g0024 a0001c0002t0003g0084 a0001c0002t0003g0085 a0001c0002t0003g0086 a0001c0002t0009g0002 a0001c0002t0010g0002 a0001c0003t0002g0016 a0001c0003t0002g0088 a0008c0012t0003g0087	75	402	0.1866	-57	c.-82 others(66): Show c.-823_-767delCATGAGACTTAGGGGACTATCAGGTGGTATATCTTT GTTACTATTCATATCCTTTTT		OR52N2	ENSG00000180988.3	transcript	ENST00000317037.3	protein_coding					638		chr11	TogoVar
OR5AC2_chr3_98082173_98093102	98090188	TTGCTGCA others(50): Show TTGCTGCACTCATCAACTCGTCATTTACATTAGGTATTTTTCCTAATGCT ATCCCTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	462	0.0022	-57	c.20 others(68): Show c.2087_*2143delTGCTGCACTCATCAACTCGTCATTTACATTAGGT ATTTTTCCTAATGCTATCCCTCC		OR5AC2	ENSG00000196578.4	transcript	ENST00000358642.2	protein_coding					2087		chr3	TogoVar
OR8U3_chr11_56412258_56423232	56420784	AAATAGTC others(50): Show AAATAGTCTTAAGAAAGTTAATCTTCAGTTCCTCTATTTCTATCTTTCCA TTTTTCTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0000 a0005c0006t0001g0000	1	442	0.0023	-57	c.-26 others(68): Show c.-2609_-2553delCAGAAAAATGGAAAGATAGAAATAGAGGAACTGA AGATTAACTTTCTTAAGACTATT		OR8U3	ENSG00000279961.2	transcript	ENST00000623286.1	protein_coding					2553		chr11	TogoVar
OSBP2_chr22_30689874_30912813	30756999	TGCAGACC others(50): Show TGCAGACCACACTCCTCAAACGCAGGGTATCTGCTGTGCGTTGACACCTC CCAGCCAG	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02615.hp2 HG02109.hp1 HG02615.hp2	a0001 a0001	a0001c0015 a0001c0016 a0001c0015 a0001c0016	a0001c0015t0002 a0001c0016t0003 a0001c0015t0002 a0001c0016t0003	a0001c0015t0002g0253 a0001c0016t0003g0254 a0001c0015t0002g0253 a0001c0016t0003g0254	2	268	0.0075	-57	c.853 others(76): Show c.853+15651_853+15707delGCAGGGTATCTGCTGTGCGTTGACAC CTCCCAGCCAGGCAGACCACACTCCTCAAAC		OSBP2	ENSG00000184792.16	transcript	ENST00000332585.11	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr22	TogoVar
OSBPL5_chr11_3082107_3170310	3103728	CCCTTCCT others(50): Show CCCTTCCTGCCTCTGCAACCCTCTTCCAGCTCTGCAGCCCCCTTCCAGCC TCTGCAGT	C C	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03710.hp2 HG04184.hp1 others(1): Show HG02738.hp2 HG03710.hp2 HG04184.hp1 NA18963.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0006 a0002c0003t0003 a0002c0003t0006	a0002c0003t0003g0237 a0002c0003t0003g0263 a0002c0003t0003g0312 others(1): Show a0002c0003t0003g0237 a0002c0003t0003g0263 a0002c0003t0003g0312 a0002c0003t0006g0204	4	326	0.0123	-57	c.124 others(74): Show c.1244+408_1245-409delACTGCAGAGGCTGGAAGGGGGCTGCAGA GCTGGAAGAGGGTTGCAGAGGCAGGAAGG		OSBPL5	ENSG00000021762.20	transcript	ENST00000263650.12	protein_coding	10/21						chr11	TogoVar
P2RX5_chr17_3668227_3701155	3686049	CCCGCCCA others(50): Show CCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCC TCCCAACG	C C	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0323 a0001c0001t0002g0323	1	362	0.0028	-57	c.981 others(74): Show c.981+1906_981+1962delCGTTGGGAGGGTCCCTGGGGGCCCCGCT GTGCGTTCTCCTGTTCTGAGGCTGGGCGG		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
P3H2_chr3_189951728_190125897	189966083	GAAGAAAG others(50): Show GAAGAAAGAAAGAAAGAAAGAAAAAAGAAAGAAAGAAAGAAAAAGAAAGA AAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA19079.hp2 HG02970.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0002 a0001c0001t0005 a0001c0002t0002	a0001c0001t0005g0157 a0001c0002t0002g0263 a0001c0001t0005g0157 a0001c0002t0002g0263	2	304	0.0066	-57	c.189 others(76): Show c.1894-2042_1894-1986delTCTTTCTTTCTTTCTTTTTCTTTCTT TCTTTCTTTTTTCTTTCTTTCTTTCTTTCTT		P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	13/14						chr3	TogoVar
PAG1_chr8_80962810_81117068	80996940	GCAATCAT others(50): Show GCAATCATGGCATTTCCAGACTCTACACTGTGCCACCCAAGGCAGTGCTG TCCTGTGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03540.hp2 NA18522.hp1 HG01884.hp2 HG03540.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0005 a0001c0004 a0002c0005	a0001c0004t0003 a0001c0004t0009 a0002c0005t0001 a0001c0004t0003 a0001c0004t0009 a0002c0005t0001	a0001c0004t0003g0171 a0001c0004t0009g0036 a0002c0005t0001g0229 a0001c0004t0003g0171 a0001c0004t0009g0036 a0002c0005t0001g0229	3	256	0.0117	-57	c.-80 others(74): Show c.-80-3690_-80-3634delTCACAGGACAGCACTGCCTTGGGTGGCA CAGTGTAGAGTCTGGAAATGCCATGATTG		PAG1	ENSG00000076641.4	transcript	ENST00000220597.4	protein_coding	3/8						chr8	TogoVar
PARD3B_chr2_204540475_205625162	204902331	GAGTGTGA others(50): Show GAGTGTGATCGCTTCTGAATAGCTAGACGTTTTTAAGTTGTATAAAGAAT GAGTTTCA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03195.hp2 HG01109.hp2 HG03195.hp2	a0004 a0005 a0004 a0005	a0004c0012 a0005c0013 a0004c0012 a0005c0013	a0004c0012t0003 a0005c0013t0001 a0004c0012t0003 a0005c0013t0001	a0004c0012t0003g0004 a0005c0013t0001g0001 a0004c0012t0003g0004 a0005c0013t0001g0001	2	54	0.0370	-57	c.223 others(76): Show c.223-62820_223-62764delAGTGTGATCGCTTCTGAATAGCTAGA CGTTTTTAAGTTGTATAAAGAATGAGTTTCA		PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	2/22						chr2	TogoVar
PAWR_chr12_79579879_79695964	79613943	ATATATAT others(50): Show ATATATATATATATATATATATATATATATATATATATTTTTTTTTTTTT TTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA18941.hp1 HG02976.hp2 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0013 a0001c0001t0004g0128 a0001c0001t0004g0013 a0001c0001t0004g0128	2	256	0.0078	-57	c.649 others(72): Show c.649-391_649-335delAAAAAAAAAAAAAAAAAAAAATATATATAT ATATATATATATATATATATATATATA		PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	3/6						chr12	TogoVar
PCBP3_chr21_45638725_45947450	45814500	GTGAGTGG others(50): Show GTGAGTGGTGAGTGATGAGTGGTGAGTGAGTGATGAGTGGTGAGTGAGTG GTGAGTGA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03098.hp1 HG03453.hp2 others(1): Show HG02559.hp2 HG03098.hp1 HG03453.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0014 a0001c0001t0002 a0001c0003t0014	a0001c0001t0002g0209 a0001c0001t0002g0220 a0001c0003t0014g0290 others(1): Show a0001c0001t0002g0209 a0001c0001t0002g0220 a0001c0003t0014g0290 a0001c0003t0014g0291	4	292	0.0137	-57	c.-12 others(78): Show c.-125-35454_-125-35398delGTGAGTGATGAGTGGTGAGTGAGT GATGAGTGGTGAGTGAGTGGTGAGTGATGAGTG		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr21	TogoVar

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