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
NOTCH2_chr1_119906553_120074662	120041059	A A	AATATATA others(13): Show AATATATATATACATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0159 a0001c0005t0003g0159	1	168	0.0060	20	c.74- others(37): Show c.74-11073_74-11072insATATATATGTATATATATAT	NOTCH2	ENSG00000134250.21	transcript	ENST00000256646.7	protein_coding	1/33			chr1	TogoVar
NOTCH2_chr1_119906553_120074662	120041063	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0002 a0007c0014t0002	a0007c0014t0002g0022 a0007c0014t0002g0022	1	168	0.0060	20	c.74- others(37): Show c.74-11077_74-11076insATATATATATATATATATAT	NOTCH2	ENSG00000134250.21	transcript	ENST00000256646.7	protein_coding	1/33			chr1	TogoVar
NOTCH2_chr1_119906553_120074662	120041065	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0017 a0001c0002t0002g0017	1	168	0.0060	20	c.74- others(37): Show c.74-11079_74-11078insATATATATATATATATATAT	NOTCH2	ENSG00000134250.21	transcript	ENST00000256646.7	protein_coding	1/33			chr1	TogoVar
NOTCH3_chr19_15154038_15205995	15155036	T T	TTTTATTT others(13): Show TTTTATTTATTTATTTATTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00423.hp1 others(121): Show HG00099.hp2 HG00280.hp2 HG00423.hp1 HG00438.hp1 HG00597.hp2 HG00621.hp2 HG00673.hp1 HG00735.hp1 HG00741.hp1 HG01081.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01517.hp2 HG01928.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02015.hp2 HG02027.hp2 HG02055.hp2 HG02074.hp2 HG02083.hp2 HG02132.hp2 HG02145.hp1 HG02148.hp2 HG02165.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02572.hp1 HG02622.hp2 HG02630.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp1 HG03471.hp1 HG03491.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG06807.hp1 NA18747.hp2 NA18906.hp1 NA18943.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18959.hp1 NA18960.hp2 NA18968.hp2 NA18971.hp2 NA18974.hp1 NA18975.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp2 NA18984.hp2 NA18990.hp1 NA18993.hp1 NA18995.hp2 NA19000.hp2 NA19007.hp2 NA19010.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp2 NA19062.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19074.hp1 NA19077.hp2 NA19079.hp2 NA19085.hp1 NA19086.hp2 NA19090.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(7): Show a0001 a0003 a0004 a0014 a0015 a0017 a0018 a0023 a0027 a0031	a0001c0001 a0001c0005 a0001c0009 others(17): Show a0001c0001 a0001c0005 a0001c0009 a0001c0010 a0001c0013 a0001c0014 a0001c0029 a0001c0045 a0001c0051 a0003c0004 a0003c0025 a0003c0041 a0004c0016 a0014c0032 a0015c0033 a0017c0048 a0018c0047 a0023c0030 a0027c0043 a0031c0046	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(23): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0001t0024 a0001c0005t0001 a0001c0005t0005 a0001c0009t0001 a0001c0010t0001 a0001c0010t0009 a0001c0013t0001 a0001c0014t0001 a0001c0029t0001 a0001c0045t0001 a0001c0051t0001 a0003c0004t0001 a0003c0025t0001 a0003c0041t0001 a0004c0016t0001 a0014c0032t0001 a0015c0033t0009 a0017c0048t0001 a0018c0047t0001 a0023c0030t0001 a0027c0043t0001 a0031c0046t0001	a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0020 others(117): Show a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0036 a0001c0001t0001g0094 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0001g0224 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0247 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0264 a0001c0001t0001g0268 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0285 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0312 a0001c0001t0001g0321 a0001c0001t0001g0325 a0001c0001t0001g0331 a0001c0001t0003g0207 a0001c0001t0005g0229 a0001c0001t0010g0223 a0001c0001t0010g0248 a0001c0001t0024g0333 a0001c0005t0001g0062 a0001c0005t0001g0070 a0001c0005t0001g0071 a0001c0005t0001g0128 a0001c0005t0001g0323 a0001c0005t0001g0332 a0001c0005t0005g0016 a0001c0005t0005g0033 a0001c0005t0005g0127 a0001c0009t0001g0046 a0001c0009t0001g0060 a0001c0009t0001g0123 a0001c0010t0001g0265 a0001c0010t0001g0266 a0001c0010t0009g0269 a0001c0010t0009g0287 a0001c0013t0001g0225 a0001c0013t0001g0286 a0001c0014t0001g0309 a0001c0029t0001g0029 a0001c0045t0001g0222 a0001c0051t0001g0208 a0003c0004t0001g0001 a0003c0004t0001g0004 a0003c0004t0001g0010 a0003c0004t0001g0034 a0003c0004t0001g0074 a0003c0004t0001g0076 a0003c0004t0001g0077 a0003c0004t0001g0079 a0003c0004t0001g0080 a0003c0004t0001g0085 a0003c0004t0001g0114 a0003c0004t0001g0136 a0003c0004t0001g0137 a0003c0004t0001g0159 a0003c0004t0001g0169 a0003c0004t0001g0251 a0003c0004t0001g0276 a0003c0004t0001g0304 a0003c0025t0001g0028 a0003c0041t0001g0322 a0004c0016t0001g0138 a0004c0016t0001g0206 a0014c0032t0001g0256 a0015c0033t0009g0021 a0017c0048t0001g0320 a0018c0047t0001g0081 a0023c0030t0001g0110 a0027c0043t0001g0197 a0031c0046t0001g0234	124	340	0.3647	20	c.56 others(31): Show c.5625_*5626insTAAATAAATAAATAAATAAA	NOTCH3	ENSG00000074181.9	transcript	ENST00000263388.7	protein_coding		4001		chr19	TogoVar
NOTCH3_chr19_15154038_15205995	15173045	C C	CCTCCTCC others(13): Show CCTCCTCCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0003 a0002c0008t0003	a0002c0008t0003g0116 a0002c0008t0003g0116	1	340	0.0029	20	c.473 others(39): Show c.4736+1022_4736+1023insAGGAGGAGGAGGAGGAGGAG	NOTCH3	ENSG00000074181.9	transcript	ENST00000263388.7	protein_coding	25/32			chr19	TogoVar
NOTCH4_chr6_32189843_32229067	32199703	C C	CAAACAAA others(13): Show CAAACAAAACAAAACAAAACA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02132.hp2 NA18946.hp1 others(12): Show HG00438.hp1 HG02132.hp2 NA18946.hp1 NA18951.hp2 NA18960.hp2 NA18961.hp1 NA18972.hp1 NA18977.hp1 NA18979.hp1 NA18980.hp2 NA18985.hp1 NA19000.hp1 NA19067.hp1 NA19076.hp2 NA19089.hp1	a0009 a0009	a0009c0008 a0009c0068 a0009c0008 a0009c0068	a0009c0008t0001 a0009c0068t0001 a0009c0008t0001 a0009c0068t0001	a0009c0008t0001g0027 a0009c0008t0001g0028 a0009c0008t0001g0288 others(8): Show a0009c0008t0001g0027 a0009c0008t0001g0028 a0009c0008t0001g0288 a0009c0008t0001g0289 a0009c0008t0001g0290 a0009c0008t0001g0291 a0009c0008t0001g0292 a0009c0008t0001g0293 a0009c0008t0001g0294 a0009c0008t0001g0295 a0009c0068t0001g0287	15	437	0.0343	20	c.431 others(37): Show c.4316-559_4316-558insTGTTTTGTTTTGTTTTGTTT	NOTCH4	ENSG00000204301.6	transcript	ENST00000375023.3	protein_coding	23/29			chr6	TogoVar
NOTCH4_chr6_32189843_32229067	32214484	T T	TATATATA others(13): Show TATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA20129.hp1 NA18972.hp2 NA20129.hp1	a0001 a0026 a0001 a0026	a0001c0001 a0026c0035 a0001c0001 a0026c0035	a0001c0001t0001 a0026c0035t0002 a0001c0001t0001 a0026c0035t0002	a0001c0001t0001g0212 a0026c0035t0002g0089 a0001c0001t0001g0212 a0026c0035t0002g0089	2	437	0.0046	20	c.202 others(37): Show c.2022-230_2022-229insGTATATATATATATATATAT	NOTCH4	ENSG00000204301.6	transcript	ENST00000375023.3	protein_coding	12/29			chr6	TogoVar
NOTUM_chr17_81947507_81966187	81966071	G G	GGGGCCTG others(13): Show GGGGCCTGCAGTTGCGTCTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	20	c.-51 others(31): Show c.-5163_-5162insTGAGACGCAACTGCAGGCCC	NOTUM	ENSG00000185269.12	transcript	ENST00000409678.8	protein_coding		4885		chr17	TogoVar
NOVA1_chr14_26438090_26603033	26572725	A A	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0147 a0001c0001t0004g0147	1	244	0.0041	20	c.280 others(39): Show c.280+22665_280+22684dupACACACACACACACACACAC	NOVA1	ENSG00000139910.20	transcript	ENST00000539517.7	protein_coding	2/4			chr14	TogoVar
NOVA2_chr19_45928734_45978865	45964561	A A	ATCTCTCT others(13): Show ATCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01106.hp1 HG01123.hp2 others(10): Show HG00741.hp2 HG01106.hp1 HG01123.hp2 HG01358.hp2 HG01884.hp2 HG02015.hp1 HG02055.hp1 HG02071.hp1 HG02132.hp2 HG02451.hp1 HG02486.hp1 HG03139.hp2 NA18747.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0002t0014 a0001c0002t0017 others(8): Show a0001c0002t0002 a0001c0002t0014 a0001c0002t0017 a0001c0002t0019 a0001c0002t0023 a0001c0002t0105 a0001c0003t0028 a0001c0003t0043 a0001c0003t0044 a0001c0003t0045 a0001c0003t0081	a0001c0002t0002g0272 a0001c0002t0002g0295 a0001c0002t0002g0335 others(10): Show a0001c0002t0002g0272 a0001c0002t0002g0295 a0001c0002t0002g0335 a0001c0002t0014g0346 a0001c0002t0017g0271 a0001c0002t0019g0032 a0001c0002t0023g0320 a0001c0002t0105g0358 a0001c0003t0028g0375 a0001c0003t0043g0017 a0001c0003t0044g0018 a0001c0003t0045g0019 a0001c0003t0081g0156	13	402	0.0323	20	c.86- others(35): Show c.86-3428_86-3409dupGAGAGAGAGAGAGAGAGAGA	NOVA2	ENSG00000104967.8	transcript	ENST00000263257.6	protein_coding	1/3			chr19	TogoVar
NOX1_chrX_100838324_100879359	100853261	C C	CCTTTCTT others(13): Show CCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	302	0.0033	20	c.805 others(37): Show c.805-1956_805-1937dupAAAGAAAGAAAGAAAGAAAG	NOX1	ENSG00000007952.18	transcript	ENST00000372966.8	protein_coding	7/12			chrX	TogoVar
NOX1_chrX_100838324_100879359	100853276	T T	TTCTTTCT others(13): Show TTCTTTCTTTCTCTCTCTTTC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG01891.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0265 a0001c0001t0002g0267 a0001c0001t0002g0265 a0001c0001t0002g0267	2	302	0.0066	20	c.805 others(37): Show c.805-1952_805-1951insGAAAGAGAGAGAAAGAAAGA	NOX1	ENSG00000007952.18	transcript	ENST00000372966.8	protein_coding	7/12			chrX	TogoVar
NOX1_chrX_100838324_100879359	100853280	T T	TTCTTTCT others(13): Show TTCTTTCTTTCTCTCTCTTTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02717.hp1 HG03195.hp1 others(2): Show HG02055.hp1 HG02717.hp1 HG03195.hp1 HG03225.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0007t0002 a0001c0001t0002 a0001c0007t0002	a0001c0001t0002g0266 a0001c0001t0002g0269 a0001c0001t0002g0273 others(2): Show a0001c0001t0002g0266 a0001c0001t0002g0269 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0007t0002g0268	5	302	0.0166	20	c.805 others(37): Show c.805-1956_805-1955insGAAAGAGAGAGAAAGAAAGA	NOX1	ENSG00000007952.18	transcript	ENST00000372966.8	protein_coding	7/12			chrX	TogoVar
NOX1_chrX_100838324_100879359	100853288	T T	TTCTTTCT others(13): Show TTCTTTCTTTCTCTCTCTTTC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0240 a0002c0002t0001g0240	1	302	0.0033	20	c.805 others(37): Show c.805-1964_805-1963insGAAAGAGAGAGAAAGAAAGA	NOX1	ENSG00000007952.18	transcript	ENST00000372966.8	protein_coding	7/12			chrX	TogoVar
NOX3_chr6_155390368_155460839	155426984	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02155.hp2 NA18944.hp2 others(5): Show HG02015.hp1 HG02155.hp2 NA18944.hp2 NA18951.hp1 NA18953.hp1 NA18994.hp1 NA19009.hp1 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0091 a0001c0001t0001g0132 a0002c0002t0001g0140 others(5): Show a0001c0001t0001g0091 a0001c0001t0001g0132 a0002c0002t0001g0140 a0002c0002t0001g0185 a0002c0002t0001g0202 a0002c0002t0001g0270 a0002c0002t0002g0053 a0002c0002t0002g0085	8	362	0.0221	20	c.114 others(39): Show c.1145+1790_1145+1809dupACACACACACACACACACAC	NOX3	ENSG00000074771.4	transcript	ENST00000159060.3	protein_coding	9/13			chr6	TogoVar
NOX4_chr11_89319353_89496375	89405080	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01255.hp1 HG01346.hp2 others(17): Show HG01243.hp2 HG01255.hp1 HG01346.hp2 HG01358.hp2 HG01517.hp2 HG01978.hp2 HG02300.hp1 HG02451.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02809.hp2 HG03579.hp1 HG03669.hp1 NA18747.hp2 NA18947.hp2 NA18961.hp1 NA18963.hp1 NA18985.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0017 a0001c0001t0060 a0001c0001t0081 a0001c0001t0086 a0001c0001t0088 a0001c0001t0109 a0001c0002t0006 a0001c0002t0009 a0001c0002t0033 a0001c0002t0036 a0001c0003t0004 a0001c0003t0005	a0001c0001t0001g0014 a0001c0001t0001g0134 a0001c0001t0002g0256 others(17): Show a0001c0001t0001g0014 a0001c0001t0001g0134 a0001c0001t0002g0256 a0001c0001t0008g0112 a0001c0001t0017g0165 a0001c0001t0060g0106 a0001c0001t0081g0163 a0001c0001t0086g0152 a0001c0001t0088g0158 a0001c0001t0109g0281 a0001c0002t0006g0021 a0001c0002t0009g0278 a0001c0002t0033g0262 a0001c0002t0036g0234 a0001c0002t0036g0235 a0001c0003t0004g0037 a0001c0003t0004g0116 a0001c0003t0004g0120 a0001c0003t0005g0190 a0001c0003t0005g0194	20	288	0.0694	20	c.630 others(37): Show c.630-2558_630-2539dupCACACACACACACACACACA	NOX4	ENSG00000086991.13	transcript	ENST00000263317.9	protein_coding	8/17			chr11	TogoVar
NOX4_chr11_89319353_89496375	89455719	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02723.hp2 HG01074.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0171 a0001c0001t0017g0172 a0001c0001t0017g0171 a0001c0001t0017g0172	2	288	0.0069	20	c.154 others(37): Show c.154-3844_154-3825dupATATATATATATATATATAT	NOX4	ENSG00000086991.13	transcript	ENST00000263317.9	protein_coding	2/17			chr11	TogoVar
NOX4_chr11_89319353_89496375	89455744	A A	ATATATAT others(13): Show ATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0142 a0001c0001t0018g0142	1	288	0.0035	20	c.154 others(37): Show c.154-3850_154-3849insCATATATATATATATATATA	NOX4	ENSG00000086991.13	transcript	ENST00000263317.9	protein_coding	2/17			chr11	TogoVar
NOX4_chr11_89319353_89496375	89461647	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(152): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00408.hp2 HG00544.hp1 HG00558.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03490.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03834.hp1 HG03927.hp1 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18941.hp2 NA18942.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18959.hp1 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18977.hp1 NA18977.hp2 NA18984.hp1 NA18986.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA19001.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19030.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19076.hp2 NA19077.hp1 NA19083.hp1 NA19083.hp2 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0008 a0001c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(81): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0028 a0001c0001t0037 a0001c0001t0039 a0001c0001t0047 a0001c0001t0050 a0001c0001t0052 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0080 a0001c0001t0085 a0001c0001t0088 a0001c0001t0091 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0103 a0001c0001t0108 a0001c0001t0109 a0001c0001t0111 a0001c0001t0114 a0001c0001t0116 a0001c0002t0006 a0001c0002t0009 a0001c0002t0011 a0001c0002t0025 a0001c0002t0029 a0001c0002t0033 a0001c0002t0041 a0001c0002t0042 a0001c0002t0044 a0001c0002t0045 a0001c0002t0076 a0001c0002t0093 a0001c0002t0098 a0001c0002t0099 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0007 a0001c0003t0019 a0001c0003t0020 a0001c0003t0023 a0001c0003t0037 a0001c0003t0089 a0001c0003t0090 a0001c0003t0092 a0001c0003t0104 a0001c0005t0040 a0001c0005t0077 a0001c0006t0024 a0001c0006t0087 a0001c0008t0002 a0001c0012t0023	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0023 others(152): Show a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0023 a0001c0001t0001g0035 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0070 a0001c0001t0001g0081 a0001c0001t0001g0088 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0110 a0001c0001t0001g0128 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0002g0224 a0001c0001t0002g0231 a0001c0001t0002g0238 a0001c0001t0002g0246 a0001c0001t0002g0252 a0001c0001t0002g0254 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0266 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0279 a0001c0001t0002g0283 a0001c0001t0003g0182 a0001c0001t0003g0188 a0001c0001t0003g0191 a0001c0001t0004g0003 a0001c0001t0005g0149 a0001c0001t0005g0150 a0001c0001t0007g0125 a0001c0001t0007g0126 a0001c0001t0008g0002 a0001c0001t0008g0051 a0001c0001t0008g0086 a0001c0001t0008g0107 a0001c0001t0008g0112 a0001c0001t0010g0065 a0001c0001t0010g0087 a0001c0001t0010g0102 a0001c0001t0010g0133 a0001c0001t0013g0082 a0001c0001t0014g0036 a0001c0001t0014g0068 a0001c0001t0016g0012 a0001c0001t0016g0047 a0001c0001t0016g0100 a0001c0001t0017g0165 a0001c0001t0017g0171 a0001c0001t0017g0172 a0001c0001t0018g0142 a0001c0001t0018g0187 a0001c0001t0018g0192 a0001c0001t0019g0166 a0001c0001t0020g0056 a0001c0001t0021g0010 a0001c0001t0021g0113 a0001c0001t0021g0124 a0001c0001t0022g0140 a0001c0001t0023g0161 a0001c0001t0024g0155 a0001c0001t0024g0210 a0001c0001t0028g0108 a0001c0001t0037g0280 a0001c0001t0039g0092 a0001c0001t0047g0139 a0001c0001t0050g0080 a0001c0001t0052g0122 a0001c0001t0055g0097 a0001c0001t0056g0055 a0001c0001t0057g0127 a0001c0001t0059g0054 a0001c0001t0060g0106 a0001c0001t0061g0042 a0001c0001t0063g0067 a0001c0001t0064g0104 a0001c0001t0065g0105 a0001c0001t0066g0096 a0001c0001t0067g0111 a0001c0001t0070g0094 a0001c0001t0071g0090 a0001c0001t0072g0093 a0001c0001t0080g0203 a0001c0001t0085g0179 a0001c0001t0088g0158 a0001c0001t0091g0151 a0001c0001t0095g0215 a0001c0001t0096g0217 a0001c0001t0097g0216 a0001c0001t0103g0272 a0001c0001t0108g0223 a0001c0001t0109g0281 a0001c0001t0111g0277 a0001c0001t0114g0241 a0001c0001t0116g0271 a0001c0002t0006g0021 a0001c0002t0006g0079 a0001c0002t0006g0083 a0001c0002t0006g0084 a0001c0002t0006g0085 a0001c0002t0006g0091 a0001c0002t0009g0278 a0001c0002t0011g0156 a0001c0002t0011g0157 a0001c0002t0011g0173 a0001c0002t0011g0198 a0001c0002t0025g0016 a0001c0002t0029g0168 a0001c0002t0033g0285 a0001c0002t0041g0022 a0001c0002t0042g0136 a0001c0002t0044g0017 a0001c0002t0045g0095 a0001c0002t0076g0209 a0001c0002t0093g0219 a0001c0002t0098g0284 a0001c0002t0099g0286 a0001c0003t0003g0189 a0001c0003t0003g0193 a0001c0003t0003g0201 a0001c0003t0003g0212 a0001c0003t0004g0037 a0001c0003t0004g0066 a0001c0003t0004g0076 a0001c0003t0004g0116 a0001c0003t0004g0117 a0001c0003t0004g0119 a0001c0003t0004g0120 a0001c0003t0005g0194 a0001c0003t0005g0206 a0001c0003t0005g0208 a0001c0003t0007g0053 a0001c0003t0019g0197 a0001c0003t0019g0204 a0001c0003t0019g0213 a0001c0003t0020g0118 a0001c0003t0020g0121 a0001c0003t0023g0202 a0001c0003t0037g0251 a0001c0003t0089g0195 a0001c0003t0090g0211 a0001c0003t0092g0196 a0001c0003t0104g0267 a0001c0005t0040g0137 a0001c0005t0077g0214 a0001c0006t0024g0199 a0001c0006t0087g0200 a0001c0008t0002g0275 a0001c0012t0023g0181	155	288	0.5382	20	c.154 others(37): Show c.154-9772_154-9753dupATTTATTTATTTATTTATTT	NOX4	ENSG00000086991.13	transcript	ENST00000263317.9	protein_coding	2/17			chr11	TogoVar
NOX4_chr11_89319353_89496375	89461661	A A	AATAAATA others(13): Show AATAAATAAATAAATAAATAC	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0190 a0001c0003t0005g0190	1	288	0.0035	20	c.154 others(37): Show c.154-9767_154-9766insGTATTTATTTATTTATTTAT	NOX4	ENSG00000086991.13	transcript	ENST00000263317.9	protein_coding	2/17			chr11	TogoVar
NOX5_chr15_69009695_69067762	69045536	T T	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00673.hp1 HG00735.hp1 others(35): Show HG00323.hp1 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG01891.hp1 HG01891.hp2 HG02080.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02602.hp2 HG02698.hp2 HG02738.hp1 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03491.hp2 HG03516.hp1 HG03669.hp2 NA18522.hp2 NA18612.hp1 NA18939.hp1 NA18946.hp2 NA18953.hp1 NA18972.hp2 NA18974.hp1 NA18980.hp1 NA18990.hp1 NA18991.hp1 NA18992.hp1 NA19001.hp1 NA19063.hp1 NA19066.hp1 NA19068.hp2 NA19078.hp2 NA19084.hp2 NA20129.hp2 NA21309.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0008 a0009 a0013	a0001c0001 a0001c0003 a0002c0002 others(4): Show a0001c0001 a0001c0003 a0002c0002 a0004c0005 a0008c0011 a0009c0012 a0013c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0014 a0001c0001t0027 a0001c0003t0001 a0002c0002t0001 a0002c0002t0007 a0004c0005t0001 a0008c0011t0002 a0009c0012t0001 a0009c0012t0002 a0013c0019t0001	a0001c0001t0001g0036 a0001c0001t0001g0278 a0001c0001t0002g0047 others(31): Show a0001c0001t0001g0036 a0001c0001t0001g0278 a0001c0001t0002g0047 a0001c0001t0002g0106 a0001c0001t0002g0138 a0001c0001t0002g0154 a0001c0001t0002g0158 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0177 a0001c0001t0002g0224 a0001c0001t0012g0230 a0001c0001t0014g0151 a0001c0001t0014g0183 a0001c0001t0027g0291 a0001c0003t0001g0307 a0002c0002t0001g0031 a0002c0002t0001g0034 a0002c0002t0001g0093 a0002c0002t0001g0198 a0002c0002t0001g0205 a0002c0002t0001g0208 a0002c0002t0001g0215 a0002c0002t0007g0214 a0004c0005t0001g0037 a0004c0005t0001g0287 a0004c0005t0001g0288 a0004c0005t0001g0289 a0008c0011t0002g0303 a0008c0011t0002g0304 a0009c0012t0001g0155 a0009c0012t0002g0072 a0013c0019t0001g0246	38	396	0.0960	20	c.164 others(39): Show c.1648-1271_1648-1252dupTCTTTCTTTCTTTCTTTCTT	NOX5	ENSG00000255346.11	transcript	ENST00000388866.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
NOXRED1_chr14_77389021_77428523	77408892	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA18991.hp2 HG02486.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0196 a0001c0001t0002g0218 a0001c0001t0002g0196 a0001c0001t0002g0218	2	298	0.0067	20	c.350 others(37): Show c.350-1267_350-1248dupAAAAAAAAAAAAAAAAAAAA	NOXRED1	ENSG00000165555.10	transcript	ENST00000380835.7	protein_coding	2/5			chr14	TogoVar
NPAP1_chr15_24670775_24688393	24681379	T T	TGATAGAT others(13): Show TGATAGATAGATAGATAGATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0042 a0001c0002t0042	a0001c0002t0042g0000 a0001c0002t0042g0000	1	444	0.0023	20	c.20 others(31): Show c.2045_*2064dupAGATAGATAGATAGATAGAT	NPAP1	ENSG00000185823.5	transcript	ENST00000329468.5	protein_coding	1/1	2065	INFO_REALIGN_3_PRIME	chr15	TogoVar
NPAP1_chr15_24670775_24688393	24681816	T T	TGATAGAT others(13): Show TGATAGATAGATAGATAGATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00544.hp1 others(51): Show HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00642.hp2 HG00741.hp2 HG01175.hp1 HG01256.hp2 HG01258.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG02040.hp2 HG02071.hp1 HG02155.hp1 HG02257.hp1 HG02602.hp2 HG02622.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG03209.hp2 HG03540.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG04204.hp2 NA18948.hp2 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18957.hp2 NA18963.hp2 NA18964.hp1 NA18965.hp2 NA18967.hp1 NA18970.hp2 NA18974.hp1 NA18980.hp1 NA18985.hp2 NA18993.hp1 NA19030.hp1 NA19062.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp2 NA19077.hp2 NA19078.hp1 NA19082.hp1 NA19084.hp1 NA19086.hp1 NA20752.hp1 NA20805.hp1	a0001 a0004 a0010 others(2): Show a0001 a0004 a0010 a0011 a0014	a0001c0002 a0001c0004 a0001c0010 others(5): Show a0001c0002 a0001c0004 a0001c0010 a0004c0005 a0004c0013 a0010c0014 a0011c0012 a0014c0015	a0001c0002t0043 a0001c0004t0004 a0001c0004t0022 others(13): Show a0001c0002t0043 a0001c0004t0004 a0001c0004t0022 a0001c0004t0045 a0001c0004t0047 a0001c0004t0048 a0001c0004t0049 a0001c0010t0076 a0004c0005t0008 a0004c0005t0016 a0004c0005t0031 a0004c0005t0040 a0004c0013t0008 a0010c0014t0023 a0011c0012t0004 a0014c0015t0008	a0001c0002t0043g0000 a0001c0004t0004g0000 a0001c0004t0022g0000 others(13): Show a0001c0002t0043g0000 a0001c0004t0004g0000 a0001c0004t0022g0000 a0001c0004t0045g0000 a0001c0004t0047g0000 a0001c0004t0048g0000 a0001c0004t0049g0000 a0001c0010t0076g0000 a0004c0005t0008g0000 a0004c0005t0016g0000 a0004c0005t0031g0000 a0004c0005t0040g0000 a0004c0013t0008g0000 a0010c0014t0023g0000 a0011c0012t0004g0000 a0014c0015t0008g0000	54	444	0.1216	20	c.24 others(31): Show c.2487_*2506dupGATAGATAGATAGATAGATA	NPAP1	ENSG00000185823.5	transcript	ENST00000329468.5	protein_coding	1/1	2507	INFO_REALIGN_3_PRIME	chr15	TogoVar
NPAS1_chr19_47014837_47050775	47016841	G G	GAGAAAGA others(13): Show GAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 NA19043.hp1 HG00140.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0289 a0001c0002t0001g0180 a0001c0001t0001g0289 a0001c0002t0001g0180	2	418	0.0048	20	c.-31 others(31): Show c.-3199_-3198insAGAAAGAAAGAAAGAAAGAA	NPAS1	ENSG00000130751.10	transcript	ENST00000602212.6	protein_coding		2995		chr19	TogoVar
NPAS2_chr2_100815139_101001829	100963390	G G	GTTTGTTT others(13): Show GTTTGTTTTGTTTTGTTTTGT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0118 a0001c0001t0003g0118	1	288	0.0035	20	c.599 others(35): Show c.599-655_599-636dupTGTTTTGTTTTGTTTTGTTT	NPAS2	ENSG00000170485.17	transcript	ENST00000335681.10	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr2	TogoVar
NPAS3_chr14_32933879_33809173	32938485	T T	TAGAGAGA others(13): Show TAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01496.hp1 HG01496.hp2 others(2): Show HG01243.hp1 HG01496.hp1 HG01496.hp2 HG02258.hp1 HG03041.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0048 a0001c0001t0054 a0001c0001t0056 others(2): Show a0001c0001t0048 a0001c0001t0054 a0001c0001t0056 a0001c0001t0057 a0002c0002t0055	a0001c0001t0048g0045 a0001c0001t0054g0043 a0001c0001t0056g0047 others(2): Show a0001c0001t0048g0045 a0001c0001t0054g0043 a0001c0001t0056g0047 a0001c0001t0057g0037 a0002c0002t0055g0046	5	92	0.0544	20	c.-83 others(29): Show c.-832_-831insAGAGAGAGAGAGAGAGAGAG	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding		393		chr14	TogoVar
NPAS3_chr14_32933879_33809173	32938486	T T	TGAGAGAG others(13): Show TGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG03225.hp1 HG03239.hp1 others(1): Show HG02622.hp1 HG03225.hp1 HG03239.hp1 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0004 a0001c0001 a0001c0003 a0002c0004	a0001c0001t0016 a0001c0001t0021 a0001c0003t0059 others(1): Show a0001c0001t0016 a0001c0001t0021 a0001c0003t0059 a0002c0004t0008	a0001c0001t0016g0064 a0001c0001t0021g0036 a0001c0003t0059g0049 others(1): Show a0001c0001t0016g0064 a0001c0001t0021g0036 a0001c0003t0059g0049 a0002c0004t0008g0063	4	92	0.0435	20	c.-83 others(29): Show c.-831_-830insGAGAGAGAGAGAGAGAGAGA	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding		392		chr14	TogoVar
NPAS3_chr14_32933879_33809173	32941309	C C	CTCCCTCC others(13): Show CTCCCTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03471.hp2 HG03225.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0029 a0001c0001t0021 a0001c0001t0029	a0001c0001t0021g0036 a0001c0001t0029g0035 a0001c0001t0021g0036 a0001c0001t0029g0035	2	92	0.0217	20	c.50+ others(35): Show c.50+1946_50+1947insCTCCTTCCTTCCTTCCTTCC	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	32941309	C C	CTCCTTCC others(13): Show CTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG02451.hp1 others(3): Show HG00140.hp1 HG00140.hp2 HG02451.hp1 HG02647.hp1 NA18522.hp2 NA18968.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0001t0058 a0002c0002t0023	a0001c0001t0002g0062 a0001c0001t0004g0007 a0001c0001t0009g0061 others(3): Show a0001c0001t0002g0062 a0001c0001t0004g0007 a0001c0001t0009g0061 a0001c0001t0010g0055 a0001c0001t0058g0050 a0002c0002t0023g0028	6	92	0.0652	20	c.50+ others(35): Show c.50+1966_50+1985dupCTTCCTTCCTTCCTTCCTTC	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33004817	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03225.hp2 HG03453.hp1 others(2): Show HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03942.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0001c0001t0020 a0001c0001t0022 others(2): Show a0001c0001t0002 a0001c0001t0020 a0001c0001t0022 a0001c0001t0040 a0002c0004t0008	a0001c0001t0002g0014 a0001c0001t0020g0008 a0001c0001t0022g0015 others(2): Show a0001c0001t0002g0014 a0001c0001t0020g0008 a0001c0001t0022g0015 a0001c0001t0040g0078 a0002c0004t0008g0063	5	92	0.0544	20	c.51- others(37): Show c.51-51069_51-51068insTTTTTTTTTTTTTTTTTTTT	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33051280	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0037 a0001c0001t0057g0037	1	92	0.0109	20	c.51- others(35): Show c.51-4608_51-4607insAAAAAAAAAAAAAAAAAAAA	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33147754	T T	TATATATA others(13): Show TATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0003 a0003c0010t0003	a0003c0010t0003g0072 a0003c0010t0003g0072	1	92	0.0109	20	c.141 others(39): Show c.141-67427_141-67426insTATATATATATATATATACA	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33197267	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0010 a0001c0001t0051g0010	1	92	0.0109	20	c.141 others(39): Show c.141-17914_141-17913insGTGTGTGTGTGTGTGTGTTT	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33201300	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03225.hp2 HG03579.hp1 HG02647.hp1 HG03225.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0013 a0001c0001t0022 a0001c0001t0004 a0001c0001t0013 a0001c0001t0022	a0001c0001t0004g0007 a0001c0001t0013g0022 a0001c0001t0022g0015 a0001c0001t0004g0007 a0001c0001t0013g0022 a0001c0001t0022g0015	3	92	0.0326	20	c.141 others(39): Show c.141-13866_141-13865insGTGTGTGTGTGTGTGTGTGT	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33301306	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0017 a0002c0006t0017	a0002c0006t0017g0024 a0002c0006t0017g0024	1	92	0.0109	20	c.386 others(39): Show c.386-65863_386-65862insATATATATATATATATATAT	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33307593	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03453.hp1 NA20129.hp2 HG01261.hp2 HG03453.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0020 a0001c0001t0032 a0002c0002t0002 a0001c0001t0020 a0001c0001t0032 a0002c0002t0002	a0001c0001t0020g0008 a0001c0001t0032g0084 a0002c0002t0002g0019 a0001c0001t0020g0008 a0001c0001t0032g0084 a0002c0002t0002g0019	3	92	0.0326	20	c.386 others(39): Show c.386-59574_386-59573insGTGTGTGTGTGTGTGTGTGT	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33308527	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0055 a0001c0001t0010g0055	1	92	0.0109	20	c.386 others(39): Show c.386-58656_386-58655insCACACACACACACACACACA	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33544788	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0039 a0001c0003t0001g0039	1	92	0.0109	20	c.469 others(39): Show c.469-15329_469-15310dupATATATATATATATATATAT	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33563537	C C	CACACACA others(13): Show CACACACACACACAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02622.hp1 HG02818.hp1 HG01884.hp1 HG02622.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0008 a0001c0001 a0001c0003 a0001c0008	a0001c0001t0003 a0001c0003t0059 a0001c0008t0012 a0001c0001t0003 a0001c0003t0059 a0001c0008t0012	a0001c0001t0003g0058 a0001c0003t0059g0049 a0001c0008t0012g0025 a0001c0001t0003g0058 a0001c0003t0059g0049 a0001c0008t0012g0025	3	92	0.0326	20	c.558 others(37): Show c.558+3328_558+3329insCACACACACACAGAGAGAGA	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33582970	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	92	0.0109	20	c.558 others(39): Show c.558+22776_558+22777insTTTTTTTTTTTTTTTTTTTT	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33732860	G G	GCTCACGT others(13): Show GCTCACGTGAAGCTTGTGTCT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02622.hp2 HG03540.hp1 others(1): Show HG00738.hp1 HG02622.hp2 HG03540.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0035 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0035 a0001c0003t0043	a0001c0001t0002g0011 a0001c0001t0003g0002 a0001c0001t0035g0076 others(1): Show a0001c0001t0002g0011 a0001c0001t0003g0002 a0001c0001t0035g0076 a0001c0003t0043g0091	4	92	0.0435	20	c.734 others(37): Show c.734-2353_734-2334dupCTCACGTGAAGCTTGTGTCT	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33746171	T T	TTTTATTT others(13): Show TTTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0058 a0001c0001t0003g0058	1	92	0.0109	20	c.852 others(39): Show c.852+10851_852+10870dupATTTATTTATTTATTTATTT	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33782817	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0084 a0001c0001t0032g0084	1	92	0.0109	20	c.115 others(39): Show c.1153+4245_1153+4246insAAAAAAAAAAAAAAAAAAAA	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	9/11			chr14	TogoVar
NPAS3_chr14_32933879_33809173	33784745	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03195.hp1 HG02976.hp2 HG03195.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0049 a0002c0002t0001 a0002c0002t0049	a0002c0002t0001g0056 a0002c0002t0049g0053 a0002c0002t0001g0056 a0002c0002t0049g0053	2	92	0.0217	20	c.115 others(39): Show c.1153+6176_1153+6195dupTTTTTTTTTTTTTTTTTTTT	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPC1_chr18_23526442_23591506	23549742	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0344 a0001c0001t0003g0344	1	378	0.0027	20	c.165 others(39): Show c.1655-1635_1655-1634insAAAAAAAAAAAAAAAAAAAA	NPC1	ENSG00000141458.13	transcript	ENST00000269228.10	protein_coding	10/24			chr18	TogoVar
NPC1_chr18_23526442_23591506	23550479	C C	CTTCTTTT others(13): Show CTTCTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03516.hp1 HG03130.hp2 HG03516.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0095 a0007c0008t0001g0096 a0007c0008t0001g0095 a0007c0008t0001g0096	2	378	0.0053	20	c.165 others(39): Show c.1654+1147_1654+1148insAAAAAAAAAAAAAAAAAGAA	NPC1	ENSG00000141458.13	transcript	ENST00000269228.10	protein_coding	10/24			chr18	TogoVar
NPEPPS_chr17_47526108_47628276	47529737	T T	TTATATAT others(13): Show TTATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp2 NA18945.hp1 NA18943.hp2 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0273 a0001c0002t0001g0104 a0001c0001t0001g0273 a0001c0002t0001g0104	2	342	0.0059	20	c.-15 others(31): Show c.-1564_-1563insTATATATATATATATATATA	NPEPPS	ENSG00000141279.18	transcript	ENST00000322157.9	protein_coding		1370		chr17	TogoVar
NPEPPS_chr17_47526108_47628276	47538202	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 NA18612.hp2 HG01192.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0209 a0001c0001t0002g0092 a0001c0001t0002g0209	2	342	0.0059	20	c.255 others(37): Show c.255+6651_255+6670dupTTTTTTTTTTTTTTTTTTTT	NPEPPS	ENSG00000141279.18	transcript	ENST00000322157.9	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
NPEPPS_chr17_47526108_47628276	47594591	T T	TTTATGTT others(13): Show TTTATGTTATGTTATGTTATG	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG03017.hp2 NA18984.hp2 HG01993.hp1 HG03017.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0016 a0001c0001t0003g0064 a0001c0001t0004g0138 a0001c0001t0001g0016 a0001c0001t0003g0064 a0001c0001t0004g0138	3	342	0.0088	20	c.142 others(39): Show c.1427-1727_1427-1708dupGTTATGTTATGTTATGTTAT	NPEPPS	ENSG00000141279.18	transcript	ENST00000322157.9	protein_coding	12/22		INFO_REALIGN_3_PRIME	chr17	TogoVar

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