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
NOS1AP_chr1_162064691_162375475	162155233	TATACATA others(11): Show TATACATATACATATACAC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0173 a0001c0003t0003g0173	1	182	0.0055	-18	c.177 others(33): Show c.177+767_177+784delCATATACACATACATATA		NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1_chr12_117203142_117366626	117263575	CTATTATT others(11): Show CTATTATTATTATTATTAT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02970.hp2 HG01069.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0009 a0001c0003t0001 a0001c0001t0009 a0001c0003t0001	a0001c0001t0009g0214 a0001c0003t0001g0220 a0001c0001t0009g0214 a0001c0003t0001g0220	2	294	0.0068	-18	c.222 others(35): Show c.2222+296_2222+313delATAATAATAATAATAATA		NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding	13/28						chr12	TogoVar
NOS1_chr12_117203142_117366626	117335729	TGAGAGAG others(11): Show TGAGAGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0107 a0001c0036t0107	a0001c0036t0107g0169 a0001c0036t0107g0169	1	294	0.0034	-18	c.-42 others(37): Show c.-420-4258_-420-4241delTCTCTCTCTCTCTCTCTC		NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding	1/28						chr12	TogoVar
NOS1_chr12_117203142_117366626	117359876	TTATATAT others(11): Show TTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01975.hp1 HG02647.hp2 HG00140.hp1 HG01975.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0001t0004 a0001c0011t0149 a0001c0001t0001 a0001c0001t0004 a0001c0011t0149	a0001c0001t0001g0184 a0001c0001t0004g0183 a0001c0011t0149g0136 a0001c0001t0001g0184 a0001c0001t0004g0183 a0001c0011t0149g0136	3	294	0.0102	-18	c.-42 others(37): Show c.-421+1618_-421+1635delTATATATATATATATATA		NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding	1/28						chr12	TogoVar
NOS1_chr12_117203142_117366626	117361848	CACACACA others(11): Show CACACACACACACACACAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG00609.hp2 others(70): Show HG00323.hp1 HG00423.hp2 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00738.hp2 HG01069.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01258.hp1 HG01361.hp2 HG01515.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02083.hp2 HG02109.hp2 HG02135.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03516.hp2 HG03540.hp2 HG03710.hp1 HG03834.hp2 NA18612.hp1 NA18906.hp1 NA18945.hp2 NA18950.hp1 NA18989.hp1 NA19002.hp2 NA19007.hp2 NA19043.hp2 NA19056.hp2 NA19088.hp2 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0015 a0001c0022 a0001c0024 a0001c0037	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(58): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0015 a0001c0001t0018 a0001c0001t0023 a0001c0001t0041 a0001c0001t0042 a0001c0001t0046 a0001c0001t0047 a0001c0001t0050 a0001c0001t0059 a0001c0001t0111 a0001c0001t0114 a0001c0001t0115 a0001c0001t0117 a0001c0001t0125 a0001c0001t0142 a0001c0001t0143 a0001c0001t0176 a0001c0002t0001 a0001c0002t0007 a0001c0002t0019 a0001c0002t0020 a0001c0002t0021 a0001c0002t0052 a0001c0002t0053 a0001c0002t0094 a0001c0002t0158 a0001c0003t0001 a0001c0003t0152 a0001c0003t0161 a0001c0003t0162 a0001c0004t0005 a0001c0004t0034 a0001c0004t0049 a0001c0004t0133 a0001c0004t0135 a0001c0004t0136 a0001c0004t0138 a0001c0006t0048 a0001c0006t0093 a0001c0007t0004 a0001c0007t0043 a0001c0008t0021 a0001c0008t0051 a0001c0009t0001 a0001c0009t0031 a0001c0010t0044 a0001c0010t0045 a0001c0010t0088 a0001c0010t0092 a0001c0011t0016 a0001c0012t0132 a0001c0012t0165 a0001c0012t0167 a0001c0015t0054 a0001c0015t0169 a0001c0022t0131 a0001c0024t0013 a0001c0037t0040	a0001c0001t0002g0073 a0001c0001t0002g0210 a0001c0001t0004g0237 others(70): Show a0001c0001t0002g0073 a0001c0001t0002g0210 a0001c0001t0004g0237 a0001c0001t0006g0265 a0001c0001t0015g0236 a0001c0001t0018g0026 a0001c0001t0018g0027 a0001c0001t0023g0211 a0001c0001t0041g0024 a0001c0001t0042g0025 a0001c0001t0046g0015 a0001c0001t0047g0014 a0001c0001t0050g0008 a0001c0001t0059g0224 a0001c0001t0111g0193 a0001c0001t0114g0091 a0001c0001t0115g0129 a0001c0001t0117g0067 a0001c0001t0125g0166 a0001c0001t0142g0072 a0001c0001t0143g0190 a0001c0001t0176g0270 a0001c0002t0001g0225 a0001c0002t0007g0018 a0001c0002t0007g0019 a0001c0002t0007g0021 a0001c0002t0019g0005 a0001c0002t0019g0023 a0001c0002t0020g0007 a0001c0002t0020g0017 a0001c0002t0021g0004 a0001c0002t0052g0006 a0001c0002t0053g0016 a0001c0002t0094g0044 a0001c0002t0158g0205 a0001c0003t0001g0272 a0001c0003t0152g0249 a0001c0003t0161g0271 a0001c0003t0162g0247 a0001c0004t0005g0232 a0001c0004t0005g0248 a0001c0004t0005g0262 a0001c0004t0005g0263 a0001c0004t0005g0264 a0001c0004t0034g0266 a0001c0004t0034g0267 a0001c0004t0049g0022 a0001c0004t0133g0277 a0001c0004t0135g0235 a0001c0004t0136g0204 a0001c0004t0138g0223 a0001c0006t0048g0020 a0001c0006t0093g0167 a0001c0007t0004g0250 a0001c0007t0043g0003 a0001c0008t0021g0002 a0001c0008t0051g0009 a0001c0009t0001g0057 a0001c0009t0031g0112 a0001c0009t0031g0114 a0001c0010t0044g0011 a0001c0010t0045g0012 a0001c0010t0088g0171 a0001c0010t0092g0066 a0001c0011t0016g0168 a0001c0012t0132g0246 a0001c0012t0165g0231 a0001c0012t0167g0197 a0001c0015t0054g0010 a0001c0015t0169g0209 a0001c0022t0131g0226 a0001c0024t0013g0113 a0001c0037t0040g0013	73	294	0.2483	-18	c.-77 others(27): Show c.-775_-758delATGTGTGTGTGTGTGTGT		NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding					223		chr12	TogoVar
NOS3_chr7_150986017_151019588	151002383	AACACACA others(11): Show AACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00609.hp1 HG00642.hp1 others(15): Show HG00280.hp1 HG00609.hp1 HG00642.hp1 HG01123.hp1 HG01361.hp1 HG01884.hp2 HG02055.hp2 HG02257.hp2 HG02717.hp1 HG02809.hp1 HG02965.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03516.hp1 HG03834.hp2 NA18973.hp2 NA18991.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0004 a0001c0021 others(2): Show a0001c0001 a0001c0004 a0001c0021 a0002c0034 a0008c0017	a0001c0001t0001 a0001c0004t0001 a0001c0021t0001 others(2): Show a0001c0001t0001 a0001c0004t0001 a0001c0021t0001 a0002c0034t0001 a0008c0017t0001	a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0066 others(14): Show a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0066 a0001c0001t0001g0075 a0001c0001t0001g0126 a0001c0001t0001g0136 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0217 a0001c0001t0001g0241 a0001c0001t0001g0329 a0001c0004t0001g0199 a0001c0021t0001g0226 a0002c0034t0001g0113 a0008c0017t0001g0022	18	382	0.0471	-18	c.175 others(35): Show c.1752+132_1752+149delACACACACACACACACAC		NOS3	ENSG00000164867.11	transcript	ENST00000297494.8	protein_coding	14/26					INFO_REALIGN_3_PRIME	chr7	TogoVar
NOSTRIN_chr2_168797637_168870514	168847403	GGAGCCTC others(11): Show GGAGCCTCTGAATCAATCA	G G	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA21309.hp1 HG02523.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0002 a0001c0001t0001 a0001c0004t0002	a0001c0001t0001g0144 a0001c0004t0002g0158 a0001c0001t0001g0144 a0001c0004t0002g0158	2	326	0.0061	-18	c.631 others(35): Show c.631-3668_631-3651delCAATCAGAGCCTCTGAAT		NOSTRIN	ENSG00000163072.16	transcript	ENST00000317647.12	protein_coding	8/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149390817	CGGCGGCG others(11): Show CGGCGGCGGCGGCGGAGGA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03704.hp2 HG03704.hp2	a0024 a0024	a0024c0027 a0024c0027	a0024c0027t0003 a0024c0027t0003	a0024c0027t0003g0197 a0024c0027t0003g0197	1	260	0.0039	-18	c.38_ others(23): Show c.38_55delGCGGCGGAGGAGGCGGCG	p.Gly others(11): Show p.Gly13_Gly18del	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/5	205/8729	38/882	13/293		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2_chr1_119906553_120074662	119957829	AACACACA others(11): Show AACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01433.hp2 NA18950.hp2 HG01433.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0087 a0001c0001t0001g0089	2	168	0.0119	-18	c.202 others(37): Show c.2026+1545_2026+1562delGTGTGTGTGTGTGTGTGT		NOTCH2	ENSG00000134250.21	transcript	ENST00000256646.7	protein_coding	12/33						chr1	TogoVar
NOTCH2_chr1_119906553_120074662	119994523	TATATATA others(11): Show TATATATACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02965.hp1 HG02280.hp2 HG02965.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0019 a0001c0008t0002g0020 a0001c0008t0002g0019 a0001c0008t0002g0020	2	168	0.0119	-18	c.751 others(35): Show c.751+2456_751+2473delGTGTGTGTGTGTATATAT		NOTCH2	ENSG00000134250.21	transcript	ENST00000256646.7	protein_coding	4/33						chr1	TogoVar
NOTCH2_chr1_119906553_120074662	120051257	ACACACAC others(11): Show ACACACACACACACACACG	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0038 a0001c0002t0002g0038	1	168	0.0060	-18	c.73+ others(35): Show c.73+18059_73+18076delCGTGTGTGTGTGTGTGTG		NOTCH2	ENSG00000134250.21	transcript	ENST00000256646.7	protein_coding	1/33						chr1	TogoVar
NOTCH3_chr19_15154038_15205995	15169186	GTCTCTCT others(11): Show GTCTCTCTCTCTCTCTCTC	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02257.hp1 HG00621.hp1 HG02257.hp1	a0001 a0015 a0001 a0015	a0001c0005 a0015c0050 a0001c0005 a0015c0050	a0001c0005t0021 a0015c0050t0012 a0001c0005t0021 a0015c0050t0012	a0001c0005t0021g0064 a0015c0050t0012g0158 a0001c0005t0021g0064 a0015c0050t0012g0158	2	340	0.0059	-18	c.519 others(35): Show c.5199+882_5199+899delGAGAGAGAGAGAGAGAGA		NOTCH3	ENSG00000074181.9	transcript	ENST00000263388.7	protein_coding	28/32						chr19	TogoVar
NOTCH3_chr19_15154038_15205995	15173098	CTTCTTCT others(11): Show CTTCTTCTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0007 a0007	a0007c0040 a0007c0040	a0007c0040t0013 a0007c0040t0013	a0007c0040t0013g0305 a0007c0040t0013g0305	1	340	0.0029	-18	c.473 others(35): Show c.4736+952_4736+969delAAAAAAAAAAAAGAAGAA		NOTCH3	ENSG00000074181.9	transcript	ENST00000263388.7	protein_coding	25/32						chr19	TogoVar
NOVA2_chr19_45928734_45978865	45946930	ACATGCAT others(11): Show ACATGCATGCACATGTGTT	A A	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0122 a0001c0001t0060g0122	1	402	0.0025	-18	c.397 others(35): Show c.397-6003_397-5986delAACACATGTGCATGCATG		NOVA2	ENSG00000104967.8	transcript	ENST00000263257.6	protein_coding	3/3						chr19	TogoVar
NOVA2_chr19_45928734_45978865	45951620	AAAAAAAA others(11): Show AAAAAAAAAAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00438.hp2 others(168): Show HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01074.hp1 HG01109.hp1 HG01243.hp1 HG01255.hp1 HG01261.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp2 HG01952.hp1 HG01993.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03579.hp2 HG03669.hp2 HG03831.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18959.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18982.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0002c0009 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(49): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016 a0001c0001t0020 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0046 a0001c0001t0048 a0001c0001t0049 a0001c0001t0051 a0001c0001t0058 a0001c0001t0059 a0001c0001t0067 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0073 a0001c0001t0074 a0001c0001t0089 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0001c0002t0002 a0001c0003t0009 a0001c0004t0001 a0001c0008t0001 a0002c0009t0016 a0004c0006t0055	a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0034 others(159): Show a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0034 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0119 a0001c0001t0001g0127 a0001c0001t0001g0158 a0001c0001t0001g0186 a0001c0001t0001g0197 a0001c0001t0001g0205 a0001c0001t0001g0218 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0297 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0002g0136 a0001c0001t0002g0250 a0001c0001t0002g0252 a0001c0001t0005g0031 a0001c0001t0005g0035 a0001c0001t0005g0038 a0001c0001t0005g0076 a0001c0001t0005g0107 a0001c0001t0005g0113 a0001c0001t0005g0114 a0001c0001t0005g0120 a0001c0001t0005g0128 a0001c0001t0005g0130 a0001c0001t0005g0138 a0001c0001t0005g0161 a0001c0001t0005g0162 a0001c0001t0005g0165 a0001c0001t0005g0173 a0001c0001t0005g0177 a0001c0001t0006g0002 a0001c0001t0006g0003 a0001c0001t0006g0212 a0001c0001t0006g0219 a0001c0001t0006g0227 a0001c0001t0006g0239 a0001c0001t0006g0241 a0001c0001t0006g0255 a0001c0001t0006g0257 a0001c0001t0006g0260 a0001c0001t0006g0308 a0001c0001t0007g0012 a0001c0001t0007g0151 a0001c0001t0007g0200 a0001c0001t0007g0201 a0001c0001t0007g0213 a0001c0001t0007g0214 a0001c0001t0007g0215 a0001c0001t0007g0276 a0001c0001t0007g0292 a0001c0001t0007g0309 a0001c0001t0008g0110 a0001c0001t0008g0123 a0001c0001t0008g0131 a0001c0001t0008g0132 a0001c0001t0008g0133 a0001c0001t0008g0142 a0001c0001t0008g0143 a0001c0001t0008g0145 a0001c0001t0008g0164 a0001c0001t0008g0243 a0001c0001t0008g0245 a0001c0001t0009g0216 a0001c0001t0010g0140 a0001c0001t0011g0007 a0001c0001t0011g0094 a0001c0001t0011g0095 a0001c0001t0011g0096 a0001c0001t0011g0097 a0001c0001t0011g0222 a0001c0001t0011g0224 a0001c0001t0012g0103 a0001c0001t0012g0116 a0001c0001t0012g0150 a0001c0001t0012g0157 a0001c0001t0012g0170 a0001c0001t0012g0228 a0001c0001t0016g0125 a0001c0001t0016g0237 a0001c0001t0016g0247 a0001c0001t0016g0263 a0001c0001t0020g0134 a0001c0001t0020g0146 a0001c0001t0020g0307 a0001c0001t0025g0348 a0001c0001t0025g0360 a0001c0001t0025g0371 a0001c0001t0026g0354 a0001c0001t0026g0359 a0001c0001t0026g0361 a0001c0001t0027g0336 a0001c0001t0027g0363 a0001c0001t0029g0021 a0001c0001t0029g0023 a0001c0001t0030g0141 a0001c0001t0030g0313 a0001c0001t0031g0305 a0001c0001t0032g0176 a0001c0001t0033g0198 a0001c0001t0033g0199 a0001c0001t0036g0338 a0001c0001t0036g0347 a0001c0001t0038g0344 a0001c0001t0038g0345 a0001c0001t0039g0380 a0001c0001t0039g0382 a0001c0001t0040g0381 a0001c0001t0040g0383 a0001c0001t0046g0020 a0001c0001t0048g0024 a0001c0001t0049g0025 a0001c0001t0051g0027 a0001c0001t0058g0149 a0001c0001t0059g0124 a0001c0001t0067g0230 a0001c0001t0069g0111 a0001c0001t0070g0232 a0001c0001t0071g0306 a0001c0001t0073g0258 a0001c0001t0074g0262 a0001c0001t0089g0117 a0001c0001t0096g0370 a0001c0001t0097g0365 a0001c0001t0098g0352 a0001c0001t0100g0362 a0001c0001t0101g0339 a0001c0001t0102g0364 a0001c0001t0108g0378 a0001c0001t0109g0379 a0001c0001t0110g0384 a0001c0002t0002g0217 a0001c0003t0009g0009 a0001c0003t0009g0102 a0001c0003t0009g0121 a0001c0003t0009g0139 a0001c0004t0001g0104 a0001c0008t0001g0160 a0002c0009t0016g0105 a0004c0006t0055g0129	171	402	0.4254	-18	c.396 others(35): Show c.396+2142_396+2159delCTTTTCTTTTTTTTTTTT		NOVA2	ENSG00000104967.8	transcript	ENST00000263257.6	protein_coding	3/3						chr19	TogoVar
NOVA2_chr19_45928734_45978865	45973383	TGCGGCGG others(11): Show TGCGGCGGCTGCGGCGGCG	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0028 a0001c0001t0052g0028	1	402	0.0025	-18	c.-50 others(25): Show c.-50_-33delCGCCGCCGCAGCCGCCGC		NOVA2	ENSG00000104967.8	transcript	ENST00000263257.6	protein_coding	1/4				33		chr19	TogoVar
NOVA2_chr19_45928734_45978865	45977164	GATTCCCT others(11): Show GATTCCCTAGCAAAGGGGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0024 a0001c0001t0048g0024	1	402	0.0025	-18	c.-38 others(29): Show c.-3831_-3814delACCCCTTTGCTAGGGAAT		NOVA2	ENSG00000104967.8	transcript	ENST00000263257.6	protein_coding					3300		chr19	TogoVar
NOX4_chr11_89319353_89496375	89438816	TATTATAT others(11): Show TATTATATAATATCTTATA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0113 a0001c0001t0113	a0001c0001t0113g0227 a0001c0001t0113g0227	1	288	0.0035	-18	c.475 others(35): Show c.475+1854_475+1871delTATAAGATATTATATAAT		NOX4	ENSG00000086991.13	transcript	ENST00000263317.9	protein_coding	6/17						chr11	TogoVar
NOX4_chr11_89319353_89496375	89493721	TTTATTAT others(11): Show TTTATTATTATTATTATTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 NA19043.hp2 HG03195.hp1 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0033 a0001c0002t0098 a0001c0002t0033 a0001c0002t0098	a0001c0002t0033g0285 a0001c0002t0098g0284 a0001c0002t0033g0285 a0001c0002t0098g0284	2	288	0.0069	-18	c.-24 others(29): Show c.-2493_-2476delTAATAATAATAATAATAA		NOX4	ENSG00000086991.13	transcript	ENST00000263317.9	protein_coding					2347		chr11	TogoVar
NOX5_chr15_69009695_69067762	69052207	GACCCTGT others(11): Show GACCCTGTCTCAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0281 a0001c0001t0022g0281	1	396	0.0025	-18	c.200 others(37): Show c.2000-3125_2000-3108delCCCTGTCTCAAAAAAAAA		NOX5	ENSG00000255346.11	transcript	ENST00000388866.8	protein_coding	14/15					INFO_REALIGN_3_PRIME	chr15	TogoVar
NOXRED1_chr14_77389021_77428523	77406618	CACACACA others(11): Show CACACACACACACACACAG	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0052 a0002c0004t0003g0052	1	298	0.0034	-18	c.682 others(32): Show c.682+88_682+105delCTGTGTGTGTGTGTGTGT		NOXRED1	ENSG00000165555.10	transcript	ENST00000380835.7	protein_coding	4/5						chr14	TogoVar
NPAS1_chr19_47014837_47050775	47016839	GAGAGAAA others(11): Show GAGAGAAAGAAAGAAAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	418	0.0024	-18	c.-32 others(29): Show c.-3200_-3183delAGAGAAAGAAAGAAAGAA		NPAS1	ENSG00000130751.10	transcript	ENST00000602212.6	protein_coding					2997		chr19	TogoVar
NPAS1_chr19_47014837_47050775	47033975	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18977.hp1 NA19002.hp2 NA18964.hp2 NA18977.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0061 a0001c0001t0001g0128 a0001c0001t0001g0017 a0001c0001t0001g0061 a0001c0001t0001g0128	3	418	0.0072	-18	c.522 others(35): Show c.522+1272_522+1289delAAAAAAAAAAAAAAAAAA		NPAS1	ENSG00000130751.10	transcript	ENST00000602212.6	protein_coding	5/11					INFO_REALIGN_3_PRIME	chr19	TogoVar
NPAS2_chr2_100815139_101001829	100873269	AAAATACA others(11): Show AAAATACATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02895.hp2 HG03834.hp1 HG02132.hp2 HG02895.hp2 HG03834.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0010 a0005c0022 a0001c0001 a0001c0010 a0005c0022	a0001c0001t0001 a0001c0010t0004 a0005c0022t0001 a0001c0001t0001 a0001c0010t0004 a0005c0022t0001	a0001c0001t0001g0164 a0001c0010t0004g0192 a0005c0022t0001g0258 a0001c0001t0001g0164 a0001c0010t0004g0192 a0005c0022t0001g0258	3	288	0.0104	-18	c.-22 others(37): Show c.-22-31462_-22-31445delAATACATATATATATATA		NPAS2	ENSG00000170485.17	transcript	ENST00000335681.10	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr2	TogoVar
NPAS2_chr2_100815139_101001829	100873293	TATATATA others(11): Show TATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0032 a0001c0001t0005g0032	1	288	0.0035	-18	c.-22 others(37): Show c.-22-31438_-22-31421delTATATATATATATACACA		NPAS2	ENSG00000170485.17	transcript	ENST00000335681.10	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr2	TogoVar
NPAS2_chr2_100815139_101001829	100873295	TATATATA others(11): Show TATATATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG03834.hp2 NA18906.hp1 others(3): Show HG02074.hp2 HG03834.hp2 NA18906.hp1 NA18939.hp1 NA18942.hp2 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0004c0009 a0001c0001 a0001c0004 a0004c0009	a0001c0001t0001 a0001c0004t0010 a0004c0009t0001 a0001c0001t0001 a0001c0004t0010 a0004c0009t0001	a0001c0001t0001g0024 a0001c0004t0010g0147 a0001c0004t0010g0148 others(3): Show a0001c0001t0001g0024 a0001c0004t0010g0147 a0001c0004t0010g0148 a0001c0004t0010g0149 a0004c0009t0001g0095 a0004c0009t0001g0103	6	288	0.0208	-18	c.-22 others(37): Show c.-22-31436_-22-31419delTATATATATATACACACA		NPAS2	ENSG00000170485.17	transcript	ENST00000335681.10	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr2	TogoVar
NPAS2_chr2_100815139_101001829	100873297	TATATATA others(11): Show TATATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0002 a0001c0016t0002	a0001c0016t0002g0124 a0001c0016t0002g0124	1	288	0.0035	-18	c.-22 others(37): Show c.-22-31434_-22-31417delTATATATATACACACACA		NPAS2	ENSG00000170485.17	transcript	ENST00000335681.10	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr2	TogoVar
NPAS2_chr2_100815139_101001829	100873299	TATATATA others(11): Show TATATATATACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0090 a0001c0001t0005g0090	1	288	0.0035	-18	c.-22 others(37): Show c.-22-31432_-22-31415delTATATATACACACACACA		NPAS2	ENSG00000170485.17	transcript	ENST00000335681.10	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr2	TogoVar
NPAS2_chr2_100815139_101001829	100873303	TATATACA others(11): Show TATATACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00609.hp1 others(12): Show HG00408.hp2 HG00438.hp1 HG00609.hp1 HG02027.hp2 HG02083.hp2 HG02165.hp1 NA18943.hp2 NA18944.hp1 NA18960.hp2 NA18970.hp2 NA18995.hp2 NA19054.hp2 NA19067.hp1 NA19083.hp2 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(3): Show a0001c0001 a0001c0002 a0001c0007 a0001c0011 a0001c0020 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0001c0007t0002 a0001c0011t0002 a0001c0020t0002 a0002c0003t0003	a0001c0001t0001g0173 a0001c0001t0001g0280 a0001c0001t0001g0281 others(12): Show a0001c0001t0001g0173 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0002t0001g0189 a0001c0002t0001g0265 a0001c0002t0001g0277 a0001c0002t0001g0279 a0001c0002t0001g0284 a0001c0002t0004g0260 a0001c0007t0002g0282 a0001c0007t0002g0283 a0001c0011t0002g0285 a0001c0011t0002g0286 a0001c0020t0002g0278 a0002c0003t0003g0287	15	288	0.0521	-18	c.-22 others(37): Show c.-22-31428_-22-31411delTATACACACACACACACA		NPAS2	ENSG00000170485.17	transcript	ENST00000335681.10	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr2	TogoVar
NPAS2_chr2_100815139_101001829	100988957	GCCCCCTG others(11): Show GCCCCCTGCTCCTCCAGGC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(95): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00438.hp1 HG00609.hp1 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00741.hp1 HG01074.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01496.hp2 HG01516.hp2 HG01981.hp1 HG01981.hp2 HG02040.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02135.hp1 HG02145.hp2 HG02165.hp2 HG02258.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02735.hp2 HG02738.hp1 HG02886.hp1 HG02895.hp2 HG02965.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03492.hp1 HG03654.hp1 HG03654.hp2 HG03927.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp1 NA18966.hp1 NA18971.hp1 NA18978.hp1 NA18978.hp2 NA18982.hp1 NA18990.hp1 NA18995.hp1 NA19000.hp1 NA19002.hp1 NA19004.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19054.hp2 NA19056.hp1 NA19060.hp1 NA19062.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19078.hp1 NA19079.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19088.hp2 NA19091.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0008 a0010	a0001c0001 a0001c0002 a0001c0004 others(12): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0011 a0001c0016 a0001c0020 a0002c0003 a0002c0005 a0003c0006 a0003c0014 a0005c0012 a0005c0022 a0008c0026 a0010c0015	a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 others(27): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0002t0003 a0001c0002t0019 a0001c0004t0001 a0001c0004t0002 a0001c0004t0006 a0001c0004t0007 a0001c0004t0009 a0001c0004t0010 a0001c0004t0011 a0001c0007t0002 a0001c0007t0003 a0001c0007t0006 a0001c0011t0002 a0001c0016t0002 a0001c0020t0002 a0002c0003t0003 a0002c0003t0008 a0002c0003t0020 a0002c0005t0002 a0002c0005t0006 a0002c0005t0013 a0003c0006t0008 a0003c0014t0002 a0005c0012t0001 a0005c0022t0001 a0008c0026t0002 a0010c0015t0003	a0001c0001t0003g0114 a0001c0001t0005g0052 a0001c0001t0008g0166 others(95): Show a0001c0001t0003g0114 a0001c0001t0005g0052 a0001c0001t0008g0166 a0001c0001t0008g0170 a0001c0002t0003g0188 a0001c0002t0019g0252 a0001c0004t0001g0023 a0001c0004t0002g0010 a0001c0004t0002g0014 a0001c0004t0002g0015 a0001c0004t0002g0055 a0001c0004t0002g0081 a0001c0004t0002g0085 a0001c0004t0002g0087 a0001c0004t0002g0088 a0001c0004t0002g0106 a0001c0004t0002g0109 a0001c0004t0002g0123 a0001c0004t0002g0155 a0001c0004t0002g0162 a0001c0004t0002g0181 a0001c0004t0002g0212 a0001c0004t0002g0230 a0001c0004t0002g0270 a0001c0004t0006g0001 a0001c0004t0006g0002 a0001c0004t0006g0165 a0001c0004t0006g0168 a0001c0004t0006g0171 a0001c0004t0006g0240 a0001c0004t0006g0245 a0001c0004t0006g0246 a0001c0004t0006g0248 a0001c0004t0007g0092 a0001c0004t0009g0073 a0001c0004t0009g0110 a0001c0004t0010g0147 a0001c0004t0010g0148 a0001c0004t0010g0149 a0001c0004t0011g0239 a0001c0004t0011g0247 a0001c0004t0011g0259 a0001c0007t0002g0022 a0001c0007t0002g0111 a0001c0007t0002g0232 a0001c0007t0002g0282 a0001c0007t0002g0283 a0001c0007t0003g0051 a0001c0007t0006g0253 a0001c0007t0006g0267 a0001c0011t0002g0285 a0001c0011t0002g0286 a0001c0016t0002g0124 a0001c0020t0002g0278 a0002c0003t0003g0005 a0002c0003t0003g0011 a0002c0003t0003g0048 a0002c0003t0003g0054 a0002c0003t0003g0058 a0002c0003t0003g0062 a0002c0003t0003g0063 a0002c0003t0003g0076 a0002c0003t0003g0078 a0002c0003t0003g0096 a0002c0003t0003g0105 a0002c0003t0003g0107 a0002c0003t0003g0121 a0002c0003t0003g0143 a0002c0003t0003g0204 a0002c0003t0003g0210 a0002c0003t0003g0214 a0002c0003t0003g0287 a0002c0003t0008g0243 a0002c0003t0020g0271 a0002c0005t0002g0019 a0002c0005t0002g0020 a0002c0005t0002g0042 a0002c0005t0002g0046 a0002c0005t0002g0116 a0002c0005t0002g0136 a0002c0005t0002g0151 a0002c0005t0002g0153 a0002c0005t0002g0154 a0002c0005t0002g0163 a0002c0005t0002g0211 a0002c0005t0002g0228 a0002c0005t0002g0231 a0002c0005t0006g0167 a0002c0005t0006g0190 a0002c0005t0006g0193 a0002c0005t0013g0198 a0002c0005t0013g0266 a0003c0006t0008g0194 a0003c0014t0002g0257 a0005c0012t0001g0273 a0005c0022t0001g0258 a0008c0026t0002g0234 a0010c0015t0003g0177	98	288	0.3403	-18	c.182 others(35): Show c.1827+704_1827+721delCTGCTCCTCCAGGCCCCC		NPAS2	ENSG00000170485.17	transcript	ENST00000335681.10	protein_coding	17/20					INFO_REALIGN_3_PRIME	chr2	TogoVar
NPAS3_chr14_32933879_33809173	33183421	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01433.hp2 HG03239.hp2 others(6): Show HG00735.hp2 HG01433.hp2 HG03239.hp2 HG03516.hp1 HG03942.hp1 HG03942.hp2 NA20129.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0002 a0001c0001 a0001c0009 a0002c0002	a0001c0001t0002 a0001c0001t0007 a0001c0001t0025 others(5): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0025 a0001c0001t0036 a0001c0001t0051 a0001c0001t0053 a0001c0009t0037 a0002c0002t0031	a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0007g0083 others(6): Show a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0007g0083 a0001c0001t0025g0065 a0001c0001t0036g0075 a0001c0001t0051g0010 a0001c0001t0053g0048 a0001c0009t0037g0085 a0002c0002t0031g0077	9	92	0.0978	-18	c.141 others(37): Show c.141-31742_141-31725delTTTTTTTTTTTTTTTTTT		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33207249	ACACACAC others(11): Show ACACACACACACACACACG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01071.hp2 HG02602.hp1 others(1): Show HG00735.hp1 HG01071.hp2 HG02602.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0033 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0033 a0001c0001t0061	a0001c0001t0001g0052 a0001c0001t0007g0074 a0001c0001t0033g0086 others(1): Show a0001c0001t0001g0052 a0001c0001t0007g0074 a0001c0001t0033g0086 a0001c0001t0061g0044	4	92	0.0435	-18	c.141 others(35): Show c.141-7915_141-7898delGCACACACACACACACAC		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33554864	GACCTGTG others(11): Show GACCTGTGGTTAGTTCCAC	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02486.hp2 HG02622.hp1 others(4): Show HG01884.hp1 HG02486.hp2 HG02622.hp1 HG02818.hp1 HG02922.hp1 HG03195.hp1 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0008 others(2): Show a0001c0001 a0001c0003 a0001c0008 a0002c0002 a0002c0004	a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 others(4): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 a0001c0003t0059 a0001c0008t0012 a0002c0002t0001 a0002c0004t0026	a0001c0001t0003g0058 a0001c0001t0004g0059 a0001c0001t0014g0071 others(4): Show a0001c0001t0003g0058 a0001c0001t0004g0059 a0001c0001t0014g0071 a0001c0003t0059g0049 a0001c0008t0012g0025 a0002c0002t0001g0056 a0002c0004t0026g0023	7	92	0.0761	-18	c.469 others(35): Show c.469-5253_469-5236delTGTGGTTAGTTCCACACC		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
NPBWR2_chr20_64098802_64112565	64105595	TGGTGGGC others(11): Show TGGTGGGCGTGATGGTGGG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00621.hp2 HG02015.hp1 NA18951.hp1 others(3): Show HG00621.hp2 HG02015.hp1 NA18951.hp1 NA18952.hp2 NA19054.hp1 NA19080.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0060 a0003c0004t0012 a0001c0001t0060 a0003c0004t0012	a0001c0001t0060g0097 a0003c0004t0012g0009 a0001c0001t0060g0097 a0003c0004t0012g0009	6	355	0.0169	-18	c.21 others(27): Show c.217_*234delCCCACCATCACGCCCACC		NPBWR2	ENSG00000125522.4	transcript	ENST00000684052.1	protein_coding	2/2				217		chr20	TogoVar
NPBWR2_chr20_64098802_64112565	64105602	CGTGATGG others(11): Show CGTGATGGTGGGGGTGGGG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0040 a0001c0002t0040	a0001c0002t0040g0035 a0001c0002t0040g0035	2	355	0.0056	-18	c.21 others(27): Show c.210_*227delCCCCACCCCCACCATCAC		NPBWR2	ENSG00000125522.4	transcript	ENST00000684052.1	protein_coding	2/2				210		chr20	TogoVar
NPC1L1_chr7_44507535_44546330	44529110	AACACACA others(11): Show AACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00735.hp2 HG01074.hp1 others(5): Show HG00280.hp1 HG00735.hp2 HG01074.hp1 HG02300.hp1 HG02486.hp2 HG03195.hp1 HG03654.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008	a0001c0001t0001 a0001c0002t0001 a0001c0003t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0002 a0001c0008t0004	a0001c0001t0001g0023 a0001c0001t0001g0069 a0001c0001t0001g0144 others(4): Show a0001c0001t0001g0023 a0001c0001t0001g0069 a0001c0001t0001g0144 a0001c0002t0001g0221 a0001c0003t0002g0051 a0001c0003t0002g0053 a0001c0008t0004g0050	8	320	0.0250	-18	c.263 others(37): Show c.2637+2627_2637+2644delGTGTGTGTGTGTGTGTGT		NPC1L1	ENSG00000015520.15	transcript	ENST00000381160.8	protein_coding	10/18						chr7	TogoVar
NPC1L1_chr7_44507535_44546330	44542157	ACCCCCAT others(11): Show ACCCCCATTTGGTAATGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0015 a0015	a0015c0044 a0015c0044	a0015c0044t0001 a0015c0044t0001	a0015c0044t0001g0257 a0015c0044t0001g0257	1	320	0.0031	-18	c.-91 others(27): Show c.-916_-899delCCCATTACCAAATGGGGG		NPC1L1	ENSG00000015520.15	transcript	ENST00000381160.8	protein_coding					828		chr7	TogoVar
NPC2_chr14_74474940_74498305	74477039	AACACACA others(11): Show AACACACACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	410	0.0024	-18	c.32 others(29): Show c.3217_*3234delGTGTGTGTGTGTGTGTGT		NPC2	ENSG00000119655.11	transcript	ENST00000555619.6	protein_coding					2900		chr14	TogoVar
NPFFR1_chr10_70242329_70289004	70248466	CGTTTTTT others(11): Show CGTTTTTTTTTTGTTTTTT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0072 a0002c0004t0072	a0002c0004t0072g0185 a0002c0004t0072g0185	1	368	0.0027	-18	c.64 others(29): Show c.6473_*6490delAAAAAACAAAAAAAAAAC		NPFFR1	ENSG00000148734.8	transcript	ENST00000277942.7	protein_coding	4/4				6473		chr10	TogoVar
NPFFR2_chr4_72027000_72153305	72076002	CACACAGA others(11): Show CACACAGAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00735.hp1 HG00741.hp2 others(37): Show HG00323.hp2 HG00735.hp1 HG00741.hp2 HG01243.hp1 HG01243.hp2 HG01358.hp2 HG01884.hp1 HG01981.hp2 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02148.hp2 HG02273.hp1 HG02451.hp1 HG02486.hp2 HG02615.hp1 HG02630.hp2 HG02809.hp1 HG02886.hp2 HG02922.hp2 HG02970.hp1 HG03017.hp1 HG03139.hp2 HG03195.hp1 HG03490.hp1 HG03516.hp1 HG03654.hp2 HG03669.hp2 HG03942.hp2 HG04115.hp2 HG04204.hp1 HG06807.hp1 NA18944.hp1 NA19043.hp1 NA19043.hp2 NA19091.hp1 NA20129.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0005c0006t0002	a0001c0001t0001g0010 a0001c0001t0001g0096 a0001c0001t0001g0103 others(33): Show a0001c0001t0001g0010 a0001c0001t0001g0096 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0156 a0001c0001t0001g0165 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0287 a0001c0001t0001g0327 a0001c0001t0002g0015 a0001c0001t0002g0204 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0310 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0003g0001 a0001c0001t0003g0306 a0001c0001t0003g0309 a0005c0006t0002g0311	40	344	0.1163	-18	c.-8+ others(35): Show c.-8+43803_-8+43820delACACAGAGAGAGAGAGAG		NPFFR2	ENSG00000056291.19	transcript	ENST00000308744.12	protein_coding	1/3						chr4	TogoVar
NPHP3_chr3_132675609_132727409	132722517	TGGGCGGA others(11): Show TGGGCGGAGCAGCGGGACG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0214 a0001c0002t0002g0214	1	342	0.0029	-18	c.-18 others(27): Show c.-180_-163delCGTCCCGCTGCTCCGCCC		NPHP3	ENSG00000113971.21	transcript	ENST00000337331.10	protein_coding					109		chr3	TogoVar
NPHP4_chr1_5857811_5997425	5879780	CACACACA others(11): Show CACACACACACACACGCAA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp2 HG02280.hp1 others(13): Show HG02145.hp1 HG02145.hp2 HG02280.hp1 HG02559.hp1 HG02647.hp2 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03098.hp1 HG03195.hp1 HG03209.hp2 HG03540.hp1 HG06807.hp2 NA18522.hp1	a0001 a0002 a0013 others(1): Show a0001 a0002 a0013 a0015	a0001c0002 a0001c0005 a0002c0031 others(2): Show a0001c0002 a0001c0005 a0002c0031 a0013c0021 a0015c0020	a0001c0002t0001 a0001c0005t0001 a0002c0031t0001 others(2): Show a0001c0002t0001 a0001c0005t0001 a0002c0031t0001 a0013c0021t0001 a0015c0020t0001	a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(13): Show a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0005t0001g0162 a0001c0005t0001g0163 a0001c0005t0001g0164 a0001c0005t0001g0166 a0001c0005t0001g0167 a0001c0005t0001g0169 a0001c0005t0001g0170 a0001c0005t0001g0171 a0001c0005t0001g0172 a0001c0005t0001g0173 a0002c0031t0001g0137 a0013c0021t0001g0202 a0015c0020t0001g0168	16	208	0.0769	-18	c.261 others(35): Show c.2611+316_2611+333delTTGCGTGTGTGTGTGTGT		NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	19/29						chr1	TogoVar
NPIPB13_chr16_30217897_30253479	30219035	AACACACA others(11): Show AACACACACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG01099.hp1 HG02896.hp2 HG00544.hp2 HG01099.hp1 HG02896.hp2	a0001 a0002 a0015 a0001 a0002 a0015	a0001c0004 a0002c0041 a0015c0043 a0001c0004 a0002c0041 a0015c0043	a0001c0004t0013 a0002c0041t0001 a0015c0043t0001 a0001c0004t0013 a0002c0041t0001 a0015c0043t0001	a0001c0004t0013g0016 a0002c0041t0001g0071 a0015c0043t0001g0080 a0001c0004t0013g0016 a0002c0041t0001g0071 a0015c0043t0001g0080	3	145	0.0207	-18	c.39 others(29): Show c.3976_*3993delGTGTGTGTGTGTGTGTGT		NPIPB13	ENSG00000198064.15	transcript	ENST00000697092.1	protein_coding					3861		chr16	TogoVar
NPIPB13_chr16_30217897_30253479	30238672	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA18612.hp2 HG02015.hp2 NA18612.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0003 a0003c0002t0004 a0003c0002t0003 a0003c0002t0004	a0003c0002t0003g0087 a0003c0002t0004g0005 a0003c0002t0003g0087 a0003c0002t0004g0005	2	145	0.0138	-18	c.121 others(35): Show c.121-3111_121-3094delTTTTTTTTTTTTTTTTTT		NPIPB13	ENSG00000198064.15	transcript	ENST00000697092.1	protein_coding	2/7						chr16	TogoVar
NPIPB13_chr16_30217897_30253479	30244483	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG02015.hp1 HG00544.hp2 HG00558.hp1 HG02015.hp1	a0004 a0015 a0025 a0004 a0015 a0025	a0004c0005 a0015c0043 a0025c0048 a0004c0005 a0015c0043 a0025c0048	a0004c0005t0008 a0015c0043t0001 a0025c0048t0007 a0004c0005t0008 a0015c0043t0001 a0025c0048t0007	a0004c0005t0008g0033 a0015c0043t0001g0080 a0025c0048t0007g0026 a0004c0005t0008g0033 a0015c0043t0001g0080 a0025c0048t0007g0026	3	145	0.0207	-18	c.120 others(33): Show c.120+953_120+970delCACACACACACACACACA		NPIPB13	ENSG00000198064.15	transcript	ENST00000697092.1	protein_coding	2/7						chr16	TogoVar
NPIPB15_chr16_74371306_74397115	74384991	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA19082.hp1 NA20805.hp2 others(1): Show HG02559.hp2 NA19082.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0003 a0001c0001 a0002c0002 a0004c0003	a0001c0001t0002 a0002c0002t0002 a0004c0003t0001 a0001c0001t0002 a0002c0002t0002 a0004c0003t0001	a0001c0001t0002g0208 a0001c0001t0002g0212 a0002c0002t0002g0234 others(1): Show a0001c0001t0002g0208 a0001c0001t0002g0212 a0002c0002t0002g0234 a0004c0003t0001g0139	4	261	0.0153	-18	c.250 others(33): Show c.250-324_250-307delTGTGTGTGTGTGTGTGTG		NPIPB15	ENSG00000196436.9	transcript	ENST00000692376.1	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr16	TogoVar
NPIPB4_chr16_21829582_21862756	21838471	GAGAGATG others(11): Show GAGAGATGTGGATTCCTGA	G G	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01952.hp1 HG02004.hp2 others(1): Show HG01433.hp1 HG01952.hp1 HG02004.hp2 HG02148.hp1	a0001 a0044 a0001 a0044	a0001c0008 a0044c0037 a0001c0008 a0044c0037	a0001c0008t0001 a0044c0037t0001 a0001c0008t0001 a0044c0037t0001	a0001c0008t0001g0118 a0001c0008t0001g0186 a0001c0008t0001g0194 others(1): Show a0001c0008t0001g0118 a0001c0008t0001g0186 a0001c0008t0001g0194 a0044c0037t0001g0119	4	204	0.0196	-18	c.642 others(33): Show c.642+616_642+633delTCAGGAATCCACATCTCT		NPIPB4	ENSG00000185864.19	transcript	ENST00000682606.1	protein_coding	7/7						chr16	TogoVar
NPIPB4_chr16_21829582_21862756	21849446	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01256.hp1 HG01934.hp1 others(3): Show HG01081.hp1 HG01256.hp1 HG01934.hp1 HG02809.hp1 HG02809.hp2 HG03225.hp1	a0001 a0013 a0014 others(2): Show a0001 a0013 a0014 a0017 a0056	a0001c0002 a0013c0018 a0014c0014 others(2): Show a0001c0002 a0013c0018 a0014c0014 a0017c0019 a0056c0041	a0001c0002t0001 a0013c0018t0001 a0014c0014t0001 others(2): Show a0001c0002t0001 a0013c0018t0001 a0014c0014t0001 a0017c0019t0001 a0056c0041t0001	a0001c0002t0001g0104 a0013c0018t0001g0075 a0013c0018t0001g0076 others(3): Show a0001c0002t0001g0104 a0013c0018t0001g0075 a0013c0018t0001g0076 a0014c0014t0001g0073 a0017c0019t0001g0070 a0056c0041t0001g0074	6	204	0.0294	-18	c.121 others(35): Show c.121-1923_121-1906delTTTTTTTTTTTTTTTTTT		NPIPB4	ENSG00000185864.19	transcript	ENST00000682606.1	protein_coding	2/7						chr16	TogoVar
NPIPB4_chr16_21829582_21862756	21856285	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01975.hp2 HG01943.hp1 HG01975.hp2	a0002 a0015 a0002 a0015	a0002c0001 a0015c0024 a0002c0001 a0015c0024	a0002c0001t0001 a0015c0024t0001 a0002c0001t0001 a0015c0024t0001	a0002c0001t0001g0041 a0015c0024t0001g0042 a0002c0001t0001g0041 a0015c0024t0001g0042	2	204	0.0098	-18	c.120 others(33): Show c.120+956_120+973delCACACACACACACACACA		NPIPB4	ENSG00000185864.19	transcript	ENST00000682606.1	protein_coding	2/7						chr16	TogoVar
NPIPB5_chr16_22505891_22541535	22514835	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA18522.hp1 NA19002.hp1 others(1): Show HG01496.hp2 NA18522.hp1 NA19002.hp1 NA20300.hp1	a0013 a0023 a0026 others(1): Show a0013 a0023 a0026 a0031	a0013c0023 a0023c0033 a0026c0019 others(1): Show a0013c0023 a0023c0033 a0026c0019 a0031c0031	a0013c0023t0012 a0023c0033t0017 a0026c0019t0001 others(1): Show a0013c0023t0012 a0023c0033t0017 a0026c0019t0001 a0031c0031t0013	a0013c0023t0012g0010 a0023c0033t0017g0004 a0026c0019t0001g0020 others(1): Show a0013c0023t0012g0010 a0023c0033t0017g0004 a0026c0019t0001g0020 a0031c0031t0013g0040	4	47	0.0851	-18	c.120 others(33): Show c.120+962_120+979delCACACACACACACACACA		NPIPB5	ENSG00000243716.12	transcript	ENST00000424340.7	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr16	TogoVar

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