Joint Open Genome and Omics Platform (JoGo)

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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	162255490	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01261.hp1 HG00558.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0144 a0001c0001t0004g0150 a0001c0001t0001g0144 a0001c0001t0004g0150	2	182	0.0110	15	c.178 others(34): Show c.178-31833_178-31819dupTTTTTTTTTTTTTTT		NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162261515	A A	AGAGAGGA others(8): Show AGAGAGGAGAAGAGAG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0129 a0001c0001t0022g0129	1	182	0.0055	15	c.178 others(34): Show c.178-25824_178-25823insGAGAAGAGAGGAGAG		NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162264468	C C	CTCCTCCC others(8): Show CTCCTCCCCTCCCCTG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02071.hp1 HG03017.hp1 others(1): Show HG01175.hp1 HG02071.hp1 HG03017.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0002 a0001c0002t0002 a0001c0003t0018 others(1): Show a0001c0001t0002 a0001c0002t0002 a0001c0003t0018 a0001c0004t0006	a0001c0001t0002g0143 a0001c0002t0002g0147 a0001c0003t0018g0044 others(1): Show a0001c0001t0002g0143 a0001c0002t0002g0147 a0001c0003t0018g0044 a0001c0004t0006g0141	4	182	0.0220	15	c.178 others(34): Show c.178-22876_178-22875insTCCTCCCCTCCCCTG		NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9						chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162324416	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0035 a0001c0004t0035	a0001c0004t0035g0004 a0001c0004t0035g0004	1	182	0.0055	15	c.345 others(32): Show c.345-8587_345-8573dupTTTTTTTTTTTTTTT		NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1_chr12_117203142_117366626	117256284	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02647.hp1 HG02615.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0037 a0001c0002 a0001c0037	a0001c0002t0148 a0001c0037t0040 a0001c0002t0148 a0001c0037t0040	a0001c0002t0148g0228 a0001c0037t0040g0013 a0001c0002t0148g0228 a0001c0037t0040g0013	2	294	0.0068	15	c.253 others(34): Show c.2531+2112_2531+2113insAAAAAAAAAAAAAAA		NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding	16/28						chr12	TogoVar
NOS1_chr12_117203142_117366626	117307994	A A	AAATAATA others(8): Show AAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01928.hp2 HG02486.hp1 others(7): Show HG00673.hp1 HG01928.hp2 HG02486.hp1 HG02486.hp2 HG03491.hp1 HG03492.hp2 HG03704.hp2 HG04204.hp2 NA18612.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0013 a0001c0017	a0001c0001t0015 a0001c0001t0099 a0001c0002t0001 others(6): Show a0001c0001t0015 a0001c0001t0099 a0001c0002t0001 a0001c0004t0141 a0001c0005t0110 a0001c0006t0093 a0001c0013t0127 a0001c0013t0129 a0001c0017t0001	a0001c0001t0015g0236 a0001c0001t0099g0036 a0001c0002t0001g0034 others(7): Show a0001c0001t0015g0236 a0001c0001t0099g0036 a0001c0002t0001g0034 a0001c0002t0001g0225 a0001c0004t0141g0200 a0001c0005t0110g0040 a0001c0006t0093g0167 a0001c0013t0127g0233 a0001c0013t0129g0221 a0001c0017t0001g0123	10	294	0.0340	15	c.852 others(32): Show c.852+3457_852+3471dupATTATTATTATTATT		NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding	3/28						chr12	TogoVar
NOS2_chr17_27751766_27805529	27791769	G G	GAAAAAAA others(8): Show GAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03098.hp2 HG03195.hp1 HG02055.hp2 HG03098.hp2 HG03195.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0001c0025 a0002c0003 a0001c0005 a0001c0025 a0002c0003	a0001c0005t0001 a0001c0025t0002 a0002c0003t0002 a0001c0005t0001 a0001c0025t0002 a0002c0003t0002	a0001c0005t0001g0212 a0001c0025t0002g0299 a0002c0003t0002g0298 a0001c0005t0001g0212 a0001c0025t0002g0299 a0002c0003t0002g0298	3	402	0.0075	15	c.111 others(32): Show c.111-2082_111-2081insTTTTTTTTTTTTTTT		NOS2	ENSG00000007171.19	transcript	ENST00000313735.11	protein_coding	2/26						chr17	TogoVar
NOS2_chr17_27751766_27805529	27791779	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA19060.hp1 NA18980.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0140 a0001c0001t0013g0342 a0001c0001t0001g0140 a0001c0001t0013g0342	2	402	0.0050	15	c.111 others(32): Show c.111-2092_111-2091insGTTTTTTTTTTTTTT		NOS2	ENSG00000007171.19	transcript	ENST00000313735.11	protein_coding	2/26						chr17	TogoVar
NOS2_chr17_27751766_27805529	27803120	G G	GAGGAAAG others(8): Show GAGGAAAGGAAAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00597.hp2 HG01175.hp1 others(29): Show HG00423.hp2 HG00597.hp2 HG01175.hp1 HG01243.hp2 HG01361.hp1 HG01884.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01981.hp1 HG02055.hp1 HG02132.hp1 HG02559.hp2 HG02683.hp2 HG02738.hp2 HG03486.hp2 HG03491.hp2 HG03516.hp1 HG03704.hp2 HG03831.hp2 NA18961.hp2 NA18977.hp2 NA18983.hp2 NA18993.hp2 NA19000.hp2 NA19006.hp2 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19065.hp1 NA19080.hp2 NA20300.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0010 a0001c0012 a0002c0003 a0005c0014	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0005t0001 a0001c0010t0002 a0001c0012t0001 a0002c0003t0001 a0005c0014t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0015 others(24): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0041 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0107 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0122 a0001c0001t0001g0128 a0001c0001t0001g0169 a0001c0001t0001g0231 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0002t0001g0106 a0001c0002t0001g0123 a0001c0005t0001g0073 a0001c0005t0001g0076 a0001c0010t0002g0294 a0001c0012t0001g0105 a0002c0003t0001g0071 a0002c0003t0001g0206 a0002c0003t0001g0236 a0002c0003t0001g0237 a0005c0014t0001g0121	32	402	0.0796	15	c.-28 others(26): Show c.-2856_-2855insTTCCTTTCCTTTCCT		NOS2	ENSG00000007171.19	transcript	ENST00000313735.11	protein_coding					2592		chr17	TogoVar
NOSTRIN_chr2_168797637_168870514	168841235	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA20129.hp1 HG02647.hp1 NA20129.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0252 a0002c0003t0001g0253 a0002c0003t0001g0252 a0002c0003t0001g0253	2	326	0.0061	15	c.505 others(32): Show c.505-1745_505-1731dupAAAAAAAAAAAAAAA		NOSTRIN	ENSG00000163072.16	transcript	ENST00000317647.12	protein_coding	7/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
NOTCH2NLA_chr1_146143865_146234021	146219800	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0020 a0001c0001t0009g0020	1	60	0.0167	15	c.-45 others(32): Show c.-45+8908_-45+8909insATATATATATATATA		NOTCH2NLA	ENSG00000264343.7	transcript	ENST00000362074.8	protein_coding	1/4						chr1	TogoVar
NOTCH2NLB_chr1_148595285_148684746	148643514	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0023 a0001c0001t0018g0023	1	36	0.0278	15	c.4-3 others(28): Show c.4-3440_4-3426dupTTTTTTTTTTTTTTT		NOTCH2NLB	ENSG00000286019.2	transcript	ENST00000593495.4	protein_coding	1/4						chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149390802	A A	AGGCGGCG others(8): Show AGGCGGCGGCGGCGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01168.hp2 HG02080.hp2 HG02602.hp1 others(4): Show HG01168.hp2 HG02080.hp2 HG02602.hp1 HG02647.hp2 HG04199.hp2 NA18988.hp1 NA19090.hp1	a0011 a0011	a0011c0011 a0011c0041 a0011c0011 a0011c0041	a0011c0011t0001 a0011c0011t0005 a0011c0011t0006 others(1): Show a0011c0011t0001 a0011c0011t0005 a0011c0011t0006 a0011c0041t0003	a0011c0011t0001g0097 a0011c0011t0001g0130 a0011c0011t0005g0205 others(4): Show a0011c0011t0001g0097 a0011c0011t0001g0130 a0011c0011t0005g0205 a0011c0011t0006g0123 a0011c0011t0006g0151 a0011c0011t0006g0233 a0011c0041t0003g0170	7	260	0.0269	15	c.30_ others(20): Show c.30_44dupCGGCGGCGGCGGCGG	p.Gly others(11): Show p.Gly11_Gly15dup	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/5	212/8729	45/882	15/293		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149390829	C C	CGGCGGCG others(8): Show CGGCGGCGGCGGCGGA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00140.hp1 HG00323.hp1 HG00140.hp1 HG00323.hp1	a0011 a0011	a0011c0020 a0011c0020	a0011c0020t0001 a0011c0020t0001	a0011c0020t0001g0072 a0011c0020t0001g0073 a0011c0020t0001g0072 a0011c0020t0001g0073	2	260	0.0077	15	c.44_ others(20): Show c.44_45insCGGCGGCGGCGGAGG	p.Gly others(11): Show p.Gly11_Gly15dup	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/5	212/8729	45/882	15/293		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149390838	C C	CGGCGGCG others(8): Show CGGCGGCGGCGGCGGA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA20129.hp2 NA20129.hp2	a0026 a0026	a0026c0035 a0026c0035	a0026c0035t0030 a0026c0035t0030	a0026c0035t0030g0080 a0026c0035t0030g0080	1	260	0.0039	15	c.55_ others(20): Show c.55_56insGCGGCGGCGGAGGCG	p.Gly others(11): Show p.Gly14_Gly18dup	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/5	223/8729	56/882	19/293		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149400132	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0030 a0030	a0030c0037 a0030c0037	a0030c0037t0032 a0030c0037t0032	a0030c0037t0032g0242 a0030c0037t0032g0242	1	260	0.0039	15	c.135 others(32): Show c.135+9210_135+9211insTATATATATATATAT		NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/4						chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149419855	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0024 a0024	a0024c0026 a0024c0026	a0024c0026t0002 a0024c0026t0002	a0024c0026t0002g0017 a0024c0026t0002g0017	1	260	0.0039	15	c.136 others(34): Show c.136-11086_136-11085insATATATATATATATT		NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149419855	A A	ATATATAT others(8): Show ATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	260	0.0039	15	c.136 others(34): Show c.136-11086_136-11085insATATATATATATTTT		NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149419855	A A	ATATATAT others(8): Show ATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	260	0.0039	15	c.136 others(34): Show c.136-11086_136-11085insATATATATATTTTTT		NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149460913	T T	TTCTTTCT others(8): Show TTCTTTCTTTCTTCTC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0015 a0015	a0015c0017 a0015c0017	a0015c0017t0002 a0015c0017t0002	a0015c0017t0002g0047 a0015c0017t0002g0047	1	260	0.0039	15	c.470 others(32): Show c.470-2575_470-2574insTTCTTTCTTCTCTCT		NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLR_chr1_120718945_120799851	120752554	A A	ATATATAT others(8): Show ATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0047 a0002c0002t0002g0047	1	164	0.0061	15	c.74- others(32): Show c.74-11073_74-11072insATATATTTTTTTTTT		NOTCH2NLR	ENSG00000286106.3	transcript	ENST00000624419.3	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLR_chr1_120718945_120799851	120752554	A A	ATATTTTT others(8): Show ATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	164	0.0061	15	c.74- others(32): Show c.74-11073_74-11072insATTTTTTTTTTTTTT		NOTCH2NLR	ENSG00000286106.3	transcript	ENST00000624419.3	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLR_chr1_120718945_120799851	120752555	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	164	0.0061	15	c.74- others(32): Show c.74-11073_74-11072insATATATATATATATA		NOTCH2NLR	ENSG00000286106.3	transcript	ENST00000624419.3	protein_coding	1/4						chr1	TogoVar
NOTCH2_chr1_119906553_120074662	119963180	T T	TAGGAAGG others(8): Show TAGGAAGGAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	168	0.0060	15	c.191 others(32): Show c.1915+393_1915+394insTCCTTCCTCCTTCCT		NOTCH2	ENSG00000134250.21	transcript	ENST00000256646.7	protein_coding	11/33						chr1	TogoVar
NOTCH2_chr1_119906553_120074662	119974940	G G	GCTGGCAC others(8): Show GCTGGCACCAGTGTCT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	168	0.0060	15	c.875 others(32): Show c.875-5197_875-5196insAGACACTGGTGCCAG		NOTCH2	ENSG00000134250.21	transcript	ENST00000256646.7	protein_coding	5/33						chr1	TogoVar
NOTCH3_chr19_15154038_15205995	15155036	T T	TTTATTTA others(8): Show TTTATTTATTTATTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG03669.hp2 HG01255.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0031 a0001c0001 a0001c0031	a0001c0001t0001 a0001c0031t0001 a0001c0001t0001 a0001c0031t0001	a0001c0001t0001g0209 a0001c0031t0001g0154 a0001c0001t0001g0209 a0001c0031t0001g0154	2	340	0.0059	15	c.56 others(26): Show c.5625_*5626insTAAATAAATAAATAA		NOTCH3	ENSG00000074181.9	transcript	ENST00000263388.7	protein_coding					4001		chr19	TogoVar
NOTCH3_chr19_15154038_15205995	15173054	C C	CCCTCCTT others(8): Show CCCTCCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0008 a0002c0015t0008	a0002c0015t0008g0316 a0002c0015t0008g0316	1	340	0.0029	15	c.473 others(34): Show c.4736+1013_4736+1014insAGAAGAAGAAGGAGG		NOTCH3	ENSG00000074181.9	transcript	ENST00000263388.7	protein_coding	25/32						chr19	TogoVar
NOTCH4_chr6_32189843_32229067	32199703	C C	CAAACAAA others(8): Show CAAACAAAACAAAACA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00673.hp2 HG01123.hp2 others(20): Show HG00408.hp2 HG00673.hp2 HG01123.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02071.hp1 HG02083.hp1 HG02135.hp1 HG02148.hp1 HG02293.hp2 HG02300.hp1 HG02602.hp1 HG02683.hp2 HG03017.hp1 HG03927.hp2 NA18982.hp1 NA19065.hp2 NA19075.hp2 NA20129.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0013 a0014 a0026 a0044 a0052	a0001c0001 a0001c0056 a0002c0002 others(6): Show a0001c0001 a0001c0056 a0002c0002 a0003c0003 a0013c0011 a0014c0017 a0026c0035 a0044c0057 a0052c0080	a0001c0001t0001 a0001c0056t0001 a0002c0002t0002 others(6): Show a0001c0001t0001 a0001c0056t0001 a0002c0002t0002 a0003c0003t0001 a0013c0011t0002 a0014c0017t0003 a0026c0035t0002 a0044c0057t0001 a0052c0080t0002	a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0208 others(20): Show a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0056t0001g0221 a0002c0002t0002g0093 a0003c0003t0001g0174 a0013c0011t0002g0048 a0013c0011t0002g0050 a0013c0011t0002g0051 a0013c0011t0002g0052 a0014c0017t0003g0320 a0014c0017t0003g0321 a0014c0017t0003g0322 a0014c0017t0003g0323 a0014c0017t0003g0324 a0026c0035t0002g0089 a0026c0035t0002g0090 a0044c0057t0001g0222 a0052c0080t0002g0151	23	437	0.0526	15	c.431 others(32): Show c.4316-573_4316-559dupTGTTTTGTTTTGTTT		NOTCH4	ENSG00000204301.6	transcript	ENST00000375023.3	protein_coding	23/29						chr6	TogoVar
NOVA2_chr19_45928734_45978865	45964584	T T	TCTCTCTC others(8): Show TCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0382 a0001c0001t0039g0382	1	402	0.0025	15	c.86- others(30): Show c.86-3432_86-3431insGAGAGAGAGAGAGAG		NOVA2	ENSG00000104967.8	transcript	ENST00000263257.6	protein_coding	1/3						chr19	TogoVar
NOX3_chr6_155390368_155460839	155405816	T T	TCTCCACC others(8): Show TCTCCACCTCTGTCCC	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0078 a0002c0011t0002g0078	1	362	0.0028	15	c.158 others(34): Show c.1580+1299_1580+1313dupGGGACAGAGGTGGAG		NOX3	ENSG00000074771.4	transcript	ENST00000159060.3	protein_coding	12/13						chr6	TogoVar
NOX5_chr15_69009695_69067762	69063047	G G	GAAACATC others(8): Show GAAACATCCCGCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0043 a0001c0001t0034g0043	1	396	0.0025	15	c.63 others(26): Show c.6351_*6352insAAACATCCCGCCTCC		NOX5	ENSG00000255346.11	transcript	ENST00000388866.8	protein_coding					286		chr15	TogoVar
NOXRED1_chr14_77389021_77428523	77408892	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0247 a0001c0005t0002g0247	1	298	0.0034	15	c.350 others(32): Show c.350-1262_350-1248dupAAAAAAAAAAAAAAA		NOXRED1	ENSG00000165555.10	transcript	ENST00000380835.7	protein_coding	2/5						chr14	TogoVar
NPAS1_chr19_47014837_47050775	47035191	A A	AAAGAAGA others(8): Show AAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01070.hp1 HG01081.hp2 others(15): Show HG00558.hp1 HG01070.hp1 HG01081.hp2 HG01099.hp2 HG01243.hp1 HG01515.hp2 HG02083.hp1 HG02109.hp2 HG03098.hp2 HG03540.hp1 HG03704.hp2 HG03834.hp1 NA18950.hp1 NA18960.hp2 NA18973.hp1 NA19009.hp2 NA19060.hp1 NA19083.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0003c0015 a0006c0012	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0003c0015t0001 a0006c0012t0001	a0001c0001t0001g0051 a0001c0001t0001g0107 a0001c0001t0001g0137 others(15): Show a0001c0001t0001g0051 a0001c0001t0001g0107 a0001c0001t0001g0137 a0001c0001t0001g0206 a0001c0001t0001g0228 a0001c0001t0001g0349 a0001c0001t0001g0359 a0001c0001t0001g0373 a0001c0001t0001g0376 a0001c0001t0001g0401 a0001c0002t0001g0014 a0001c0002t0001g0200 a0001c0002t0001g0212 a0001c0002t0001g0280 a0001c0002t0001g0336 a0001c0005t0001g0300 a0003c0015t0001g0414 a0006c0012t0001g0072	18	418	0.0431	15	c.523 others(30): Show c.523-757_523-743dupAAGAAGAAGAAGAAG		NPAS1	ENSG00000130751.10	transcript	ENST00000602212.6	protein_coding	5/11					INFO_REALIGN_3_PRIME	chr19	TogoVar
NPAS2_chr2_100815139_101001829	100820246	C C	CGCGGCGG others(8): Show CGCGGCGGCGGCGGCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01255.hp1 HG02738.hp1 HG03927.hp1 others(1): Show HG01255.hp1 HG02738.hp1 HG03927.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0005 a0001c0001 a0002c0003 a0002c0005	a0001c0001t0021 a0002c0003t0020 a0002c0005t0013 a0001c0001t0021 a0002c0003t0020 a0002c0005t0013	a0001c0001t0021g0174 a0002c0003t0020g0271 a0002c0005t0013g0198 others(1): Show a0001c0001t0021g0174 a0002c0003t0020g0271 a0002c0005t0013g0198 a0002c0005t0013g0266	4	288	0.0139	15	c.-18 others(24): Show c.-182_-168dupGGCGGCGGCGGCGGC		NPAS2	ENSG00000170485.17	transcript	ENST00000335681.10	protein_coding	1/21				84485	INFO_REALIGN_3_PRIME	chr2	TogoVar
NPAS2_chr2_100815139_101001829	100963390	G G	GTTTGTTT others(8): Show GTTTGTTTTGTTTTGT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0131 a0001c0001t0003g0131	1	288	0.0035	15	c.599 others(30): Show c.599-650_599-636dupTGTTTTGTTTTGTTT		NPAS2	ENSG00000170485.17	transcript	ENST00000335681.10	protein_coding	7/20					INFO_REALIGN_3_PRIME	chr2	TogoVar
NPAS2_chr2_100815139_101001829	100979503	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0001 a0005c0012t0001	a0005c0012t0001g0273 a0005c0012t0001g0273	1	288	0.0035	15	c.148 others(34): Show c.1482+1704_1482+1705insATATATATATATATA		NPAS2	ENSG00000170485.17	transcript	ENST00000335681.10	protein_coding	15/20						chr2	TogoVar
NPAS3_chr14_32933879_33809173	32938524	A A	AGAGAGAG others(8): Show AGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 NA19240.hp2 HG03540.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0011 a0001c0001t0003g0002 a0001c0001t0002g0011 a0001c0001t0003g0002	2	92	0.0217	15	c.-79 others(24): Show c.-793_-792insGAGAGAGAGAGAGAG		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding					354		chr14	TogoVar
NPAS3_chr14_32933879_33809173	33051280	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02602.hp1 HG02818.hp1 others(7): Show HG02055.hp1 HG02602.hp1 HG02818.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03579.hp1 HG06807.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0004 a0001c0001 a0001c0008 a0002c0004	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(7): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0013 a0001c0001t0021 a0001c0001t0038 a0001c0008t0012 a0002c0004t0008	a0001c0001t0001g0052 a0001c0001t0005g0033 a0001c0001t0006g0021 others(7): Show a0001c0001t0001g0052 a0001c0001t0005g0033 a0001c0001t0006g0021 a0001c0001t0007g0083 a0001c0001t0011g0016 a0001c0001t0013g0022 a0001c0001t0021g0036 a0001c0001t0038g0081 a0001c0008t0012g0025 a0002c0004t0008g0003	10	92	0.1087	15	c.51- others(30): Show c.51-4622_51-4608dupAAAAAAAAAAAAAAA		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33077774	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01175.hp1 HG01261.hp2 others(5): Show HG00735.hp2 HG01175.hp1 HG01261.hp2 HG01433.hp1 HG02922.hp2 HG03209.hp1 HG03225.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0002 others(1): Show a0001c0001 a0001c0007 a0002c0002 a0002c0005	a0001c0001t0005 a0001c0001t0022 a0001c0001t0025 others(5): Show a0001c0001t0005 a0001c0001t0022 a0001c0001t0025 a0001c0001t0032 a0001c0001t0040 a0001c0007t0060 a0002c0002t0001 a0002c0005t0012	a0001c0001t0005g0034 a0001c0001t0022g0015 a0001c0001t0025g0065 others(5): Show a0001c0001t0005g0034 a0001c0001t0022g0015 a0001c0001t0025g0065 a0001c0001t0032g0084 a0001c0001t0040g0078 a0001c0007t0060g0042 a0002c0002t0001g0067 a0002c0005t0012g0005	8	92	0.0870	15	c.140 others(34): Show c.140+21781_140+21795dupTTTTTTTTTTTTTTT		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33079325	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0026 a0001c0001t0018g0026	1	92	0.0109	15	c.140 others(34): Show c.140+23342_140+23343insTTTTTTTTTTTTTTT		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33177109	T T	TATTATTA others(8): Show TATTATTATTATCATC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0080 a0001c0001t0014g0080	1	92	0.0109	15	c.141 others(34): Show c.141-38071_141-38070insTATTATTATCATCAT		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33177109	T T	TATTATTA others(8): Show TATTATTATTATTATC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0073 a0001c0001t0019g0073	1	92	0.0109	15	c.141 others(34): Show c.141-38071_141-38070insTATTATTATTATCAT		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33365201	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0055 a0002c0002t0055	a0002c0002t0055g0046 a0002c0002t0055g0046	1	92	0.0109	15	c.386 others(32): Show c.386-1978_386-1964dupAAAAAAAAAAAAAAA		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33582970	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0046 a0001c0001t0027 a0001c0001t0046	a0001c0001t0027g0057 a0001c0001t0046g0030 a0001c0001t0027g0057 a0001c0001t0046g0030	2	92	0.0217	15	c.558 others(34): Show c.558+22762_558+22776dupTTTTTTTTTTTTTTT		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	5/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
NPC1L1_chr7_44507535_44546330	44526546	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0020 a0020	a0020c0022 a0020c0022	a0020c0022t0001 a0020c0022t0001	a0020c0022t0001g0058 a0020c0022t0001g0058	1	320	0.0031	15	c.263 others(34): Show c.2638-4319_2638-4305dupTTTTTTTTTTTTTTT		NPC1L1	ENSG00000015520.15	transcript	ENST00000381160.8	protein_coding	10/18						chr7	TogoVar
NPC1L1_chr7_44507535_44546330	44546051	T T	TTAGACAA others(8): Show TTAGACAATTTGGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0209 a0001c0002t0001g0209	1	320	0.0031	15	c.-47 others(26): Show c.-4793_-4792insTATCCAAATTGTCTA		NPC1L1	ENSG00000015520.15	transcript	ENST00000381160.8	protein_coding					4722		chr7	TogoVar
NPC1_chr18_23526442_23591506	23543333	A A	AGAAAAAA others(8): Show AGAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02809.hp2 HG02896.hp1 others(3): Show HG02451.hp2 HG02809.hp2 HG02896.hp1 HG02897.hp1 HG06807.hp1 NA18522.hp1	a0003 a0006 a0003 a0006	a0003c0003 a0006c0007 a0003c0003 a0006c0007	a0003c0003t0001 a0006c0007t0001 a0003c0003t0001 a0006c0007t0001	a0003c0003t0001g0246 a0006c0007t0001g0170 a0006c0007t0001g0244 others(3): Show a0003c0003t0001g0246 a0006c0007t0001g0170 a0006c0007t0001g0244 a0006c0007t0001g0269 a0006c0007t0001g0286 a0006c0007t0001g0287	6	378	0.0159	15	c.224 others(32): Show c.2245+121_2245+122insCTTTTTTTTTTTTTC		NPC1	ENSG00000141458.13	transcript	ENST00000269228.10	protein_coding	14/24						chr18	TogoVar
NPC1_chr18_23526442_23591506	23550479	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00642.hp1 HG01081.hp1 others(31): Show HG00423.hp1 HG00642.hp1 HG01081.hp1 HG01106.hp2 HG01167.hp2 HG01891.hp2 HG02055.hp2 HG02056.hp2 HG02155.hp2 HG02280.hp2 HG02451.hp1 HG02615.hp2 HG02723.hp2 HG02886.hp1 HG02922.hp1 HG02965.hp2 HG03041.hp2 HG03225.hp2 HG03540.hp2 HG03654.hp2 HG06807.hp2 NA18947.hp1 NA18956.hp1 NA18959.hp1 NA18967.hp1 NA18969.hp1 NA18979.hp1 NA18982.hp2 NA18985.hp1 NA18986.hp1 NA18999.hp1 NA19063.hp2 NA19072.hp2 NA19240.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0008 a0014	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0008c0009 a0014c0021	a0001c0001t0001 a0002c0002t0001 a0002c0002t0004 others(5): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0003c0003t0001 a0008c0009t0001 a0014c0021t0001	a0001c0001t0001g0047 a0002c0002t0001g0031 a0002c0002t0001g0036 others(31): Show a0001c0001t0001g0047 a0002c0002t0001g0031 a0002c0002t0001g0036 a0002c0002t0001g0038 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0046 a0002c0002t0001g0048 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0060 a0002c0002t0001g0062 a0002c0002t0001g0064 a0002c0002t0001g0067 a0002c0002t0001g0069 a0002c0002t0001g0071 a0002c0002t0001g0077 a0002c0002t0001g0079 a0002c0002t0001g0081 a0002c0002t0001g0083 a0002c0002t0004g0082 a0002c0002t0004g0101 a0002c0002t0005g0357 a0002c0002t0005g0358 a0002c0002t0006g0091 a0003c0003t0001g0206 a0008c0009t0001g0085 a0014c0021t0001g0037	34	378	0.0900	15	c.165 others(34): Show c.1654+1133_1654+1147dupAAAAAAAAAAAAAAA		NPC1	ENSG00000141458.13	transcript	ENST00000269228.10	protein_coding	10/24						chr18	TogoVar
NPC2_chr14_74474940_74498305	74485294	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	410	0.0024	15	c.191 others(30): Show c.191-722_191-708dupTTTTTTTTTTTTTTT		NPC2	ENSG00000119655.11	transcript	ENST00000555619.6	protein_coding	2/4						chr14	TogoVar
NPEPL1_chr20_58687800_58720844	58688614	G G	GGTGTGTG others(8): Show GGTGTGTGTGGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 NA20129.hp2 HG01891.hp1 NA20129.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0003 a0001c0014t0003	a0001c0014t0003g0085 a0001c0014t0003g0086 a0001c0014t0003g0085 a0001c0014t0003g0086	2	398	0.0050	15	c.-42 others(26): Show c.-4287_-4286insGTGTGTGTGGTGTGT		NPEPL1	ENSG00000215440.12	transcript	ENST00000356091.11	protein_coding					4185		chr20	TogoVar

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