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
NPAS3_chr14_32933879_33809173	32938457	A A	AAGAGAGA others(17): Show AAGAGAGAGAGAGAGAGAGAAATTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	92	0.0109	24	c.-86 others(33): Show c.-860_-859insAGAGAGAGAGAGAGAGAGAAATTG		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding					421		chr14	TogoVar
NPAS3_chr14_32933879_33809173	32938486	T T	TGACAGAG others(17): Show TGACAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0019 a0002c0002t0002g0019	1	92	0.0109	24	c.-83 others(33): Show c.-831_-830insGACAGAGAGAGAGAGAGAGAGAGA		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding					392		chr14	TogoVar
NPAS3_chr14_32933879_33809173	32938486	T T	TGAGAGAG others(17): Show TGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01261.hp1 HG01884.hp1 others(1): Show HG00738.hp1 HG01261.hp1 HG01884.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0029 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0029 a0001c0003t0043	a0001c0001t0001g0060 a0001c0001t0003g0058 a0001c0001t0029g0035 others(1): Show a0001c0001t0001g0060 a0001c0001t0003g0058 a0001c0001t0029g0035 a0001c0003t0043g0091	4	92	0.0435	24	c.-83 others(33): Show c.-831_-830insGAGAGAGAGAGAGAGAGAGAGAGA		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding					392		chr14	TogoVar
NPAS3_chr14_32933879_33809173	32941309	C C	CTCCCTCC others(17): Show CTCCCTCCCTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG06807.hp1 HG01175.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0013 a0001c0001t0011 a0001c0001t0013	a0001c0001t0011g0016 a0001c0001t0013g0001 a0001c0001t0011g0016 a0001c0001t0013g0001	2	92	0.0217	24	c.50+ others(39): Show c.50+1946_50+1947insCTCCCTCCTTCCTTCCTTCCTTCC		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	32941309	C C	CTCCCTCC others(17): Show CTCCCTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02922.hp2 HG03195.hp2 HG02622.hp1 HG02922.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0001t0006 a0001c0003t0059 a0001c0001t0005 a0001c0001t0006 a0001c0003t0059	a0001c0001t0005g0034 a0001c0001t0006g0021 a0001c0003t0059g0049 a0001c0001t0005g0034 a0001c0001t0006g0021 a0001c0003t0059g0049	3	92	0.0326	24	c.50+ others(39): Show c.50+1946_50+1947insCTCCTTCCTTCCTTCCTTCCTTCC		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(17): Show CTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03041.hp1 HG03041.hp2 HG01884.hp1 HG03041.hp1 HG03041.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0057 a0002c0002t0011 a0001c0001t0003 a0001c0001t0057 a0002c0002t0011	a0001c0001t0003g0058 a0001c0001t0057g0037 a0002c0002t0011g0027 a0001c0001t0003g0058 a0001c0001t0057g0037 a0002c0002t0011g0027	3	92	0.0326	24	c.50+ others(39): Show c.50+1962_50+1985dupCTTCCTTCCTTCCTTCCTTCCTTC		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(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0012 a0001c0008t0012	a0001c0008t0012g0025 a0001c0008t0012g0025	1	92	0.0109	24	c.51- others(41): Show c.51-51069_51-51068insTTTTTTTTTTTTTTTTTTTTTTTT		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33201300	G G	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01433.hp2 homoSapiens_chm13v2.hp1 HG01433.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0002 a0001c0009t0037 a0001c0001t0002 a0001c0009t0037	a0001c0001t0002g0018 a0001c0009t0037g0085 a0001c0001t0002g0018 a0001c0009t0037g0085	2	92	0.0217	24	c.141 others(43): Show c.141-13866_141-13865insGTGTGTGTGTGTGTGTGTGTGTGT		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(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0037 a0001c0009t0037	a0001c0009t0037g0085 a0001c0009t0037g0085	1	92	0.0109	24	c.386 others(43): Show c.386-65863_386-65862insATATATATATATATATATATATAT		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(17): Show ATGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01884.hp2 HG06807.hp2 others(1): Show HG01261.hp1 HG01884.hp2 HG06807.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 a0001c0001t0019	a0001c0001t0001g0060 a0001c0001t0003g0017 a0001c0001t0014g0071 others(1): Show a0001c0001t0001g0060 a0001c0001t0003g0017 a0001c0001t0014g0071 a0001c0001t0019g0073	4	92	0.0435	24	c.386 others(43): Show c.386-59574_386-59573insGTGTGTGTGTGTGTGTGTGTGTGT		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33308527	T T	TATATATA others(17): Show TATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0071 a0001c0001t0014g0071	1	92	0.0109	24	c.386 others(43): Show c.386-58658_386-58657insTATATATATATATATACACACACA		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(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG03453.hp1 HG01496.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0054 a0001c0001t0020 a0001c0001t0054	a0001c0001t0020g0008 a0001c0001t0054g0043 a0001c0001t0020g0008 a0001c0001t0054g0043	2	92	0.0217	24	c.469 others(43): Show c.469-15310_469-15309insATATATATATATATATATATATAT		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(17): Show CACACACACACACACAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0048 a0001c0001t0053g0048	1	92	0.0109	24	c.558 others(41): Show c.558+3328_558+3329insCACACACACACACAGAGAGAGAGA		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	5/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33746171	T T	TTTTATTT others(17): Show TTTTATTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0003 a0003c0010t0003	a0003c0010t0003g0072 a0003c0010t0003g0072	1	92	0.0109	24	c.852 others(43): Show c.852+10847_852+10870dupATTTATTTATTTATTTATTTATTT		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33789583	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0033 a0001c0001t0005g0033	1	92	0.0109	24	c.115 others(43): Show c.1154-4291_1154-4290insTTTTTTTTTTTTTTTTTTTTTTTT		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
NPBWR2_chr20_64098802_64112565	64105606	A A	ATGATGGG others(17): Show ATGATGGGGGTGATGGTGGGGGTGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0094 a0001c0002t0094	a0001c0002t0094g0067 a0001c0002t0094g0067	1	355	0.0028	24	c.22 others(33): Show c.223_*224insCCACCCCCACCATCACCCCCATCA		NPBWR2	ENSG00000125522.4	transcript	ENST00000684052.1	protein_coding	2/2				223		chr20	TogoVar
NPBWR2_chr20_64098802_64112565	64105717	G G	GTGGGGGT others(17): Show GTGGGGGTGGTGGTGGGCGTGATGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0117 a0001c0002t0117	a0001c0002t0117g0087 a0001c0002t0117g0087	1	355	0.0028	24	c.11 others(33): Show c.112_*113insTCATCACGCCCACCACCACCCCCA		NPBWR2	ENSG00000125522.4	transcript	ENST00000684052.1	protein_coding	2/2				112		chr20	TogoVar
NPC1L1_chr7_44507535_44546330	44526546	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0001 a0001c0035t0001	a0001c0035t0001g0244 a0001c0035t0001g0244	1	320	0.0031	24	c.263 others(43): Show c.2638-4305_2638-4304insTTTTTTTTTTTTTTTTTTTTTTTT		NPC1L1	ENSG00000015520.15	transcript	ENST00000381160.8	protein_coding	10/18						chr7	TogoVar
NPEPPS_chr17_47526108_47628276	47538202	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0220 a0001c0001t0002g0220	1	342	0.0029	24	c.255 others(41): Show c.255+6670_255+6671insTTTTTTTTTTTTTTTTTTTTTTTT		NPEPPS	ENSG00000141279.18	transcript	ENST00000322157.9	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr17	TogoVar
NPHP4_chr1_5857811_5997425	5949343	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01074.hp2 HG01255.hp2 others(7): Show HG01071.hp2 HG01074.hp2 HG01255.hp2 HG02735.hp2 HG03471.hp2 NA18906.hp1 NA18960.hp2 NA19011.hp2 NA19066.hp2 NA19086.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0001c0004 a0004c0009 a0001c0003 a0001c0004 a0004c0009	a0001c0003t0001 a0001c0004t0001 a0004c0009t0001 a0001c0003t0001 a0001c0004t0001 a0004c0009t0001	a0001c0003t0001g0193 a0001c0003t0001g0199 a0001c0003t0001g0200 others(7): Show a0001c0003t0001g0193 a0001c0003t0001g0199 a0001c0003t0001g0200 a0001c0004t0001g0158 a0001c0004t0001g0180 a0001c0004t0001g0183 a0001c0004t0001g0185 a0001c0004t0001g0191 a0001c0004t0001g0194 a0004c0009t0001g0192	10	208	0.0481	24	c.811 others(41): Show c.811-1116_811-1093dupGTGTGTGTGTGTGTGTGTGTGTGT		NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	7/29						chr1	TogoVar
NPHP4_chr1_5857811_5997425	5964941	A A	ATATATAT others(17): Show ATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0165 a0001c0005t0001g0165	1	208	0.0048	24	c.517 others(41): Show c.517+2357_517+2358insAAAAAAAAAAAAAAAATATATATA		NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	5/29						chr1	TogoVar
NPHP4_chr1_5857811_5997425	5964941	A A	ATATATAT others(17): Show ATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0173 a0001c0005t0001g0173	1	208	0.0048	24	c.517 others(41): Show c.517+2357_517+2358insAAAAAAAAAAAAAAAAAATATATA		NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	5/29						chr1	TogoVar
NPIPA5_chr16_15358628_15383294	15376656	C C	CGCCTGTA others(17): Show CGCCTGTAATCCCAGCACTCAGCGG	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0000 a0000	a0000c0002 a0000c0002	a0000c0002t0002 a0000c0002t0002	a0000c0002t0002g0266 a0000c0002t0002g0266	1	430	0.0023	24	c.63+ others(39): Show c.63+1575_63+1576insCCGCTGAGTGCTGGGATTACAGGC		NPIPA5	ENSG00000183793.14	transcript	ENST00000360151.9	protein_coding	1/7						chr16	TogoVar
NPIPB11_chr16_29376310_29411711	29384041	C C	CGCTGAGG others(17): Show CGCTGAGGGTGGAGCTGAGGGTGGA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03209.hp1 HG03209.hp1	a0132 a0132	a0132c0152 a0132c0152	a0132c0152t0001 a0132c0152t0001	a0132c0152t0001g0091 a0132c0152t0001g0091	1	428	0.0023	24	c.890 others(31): Show c.890_891insTCCACCCTCAGCTCCACCCTCAGC	p.Ala others(37): Show p.Ala297_Asp298insProProSerAlaProProSerAla	NPIPB11	ENSG00000254206.6	transcript	ENST00000698511.1	protein_coding	8/8	3637/6369	890/3486	297/1161			chr16	TogoVar
NPIPB13_chr16_30217897_30253479	30225441	C C	CGCTGAGG others(17): Show CGCTGAGGGTGGAGCTGAGGGTGGA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp2 HG00140.hp1 HG00741.hp1 others(9): Show HG00099.hp2 HG00140.hp1 HG00741.hp1 HG01169.hp1 HG01361.hp1 HG01433.hp1 HG02258.hp1 HG02258.hp2 HG02559.hp2 HG03098.hp1 NA18957.hp1 NA19030.hp2	a0005 a0012 a0015 others(4): Show a0005 a0012 a0015 a0017 a0018 a0058 a0060	a0005c0006 a0012c0016 a0015c0031 others(4): Show a0005c0006 a0012c0016 a0015c0031 a0017c0029 a0018c0028 a0058c0071 a0060c0075	a0005c0006t0002 a0012c0016t0002 a0015c0031t0002 others(4): Show a0005c0006t0002 a0012c0016t0002 a0015c0031t0002 a0017c0029t0002 a0018c0028t0002 a0058c0071t0002 a0060c0075t0002	a0005c0006t0002g0122 a0005c0006t0002g0126 a0005c0006t0002g0127 others(9): Show a0005c0006t0002g0122 a0005c0006t0002g0126 a0005c0006t0002g0127 a0005c0006t0002g0128 a0005c0006t0002g0131 a0012c0016t0002g0137 a0012c0016t0002g0139 a0015c0031t0002g0130 a0017c0029t0002g0138 a0018c0028t0002g0134 a0058c0071t0002g0140 a0060c0075t0002g0129	12	145	0.0828	24	c.100 others(33): Show c.1004_1005insTCCACCCTCAGCTCCACCCTCAGC	p.Ala others(37): Show p.Ala335_Asp336insProProSerAlaProProSerAla	NPIPB13	ENSG00000198064.15	transcript	ENST00000697092.1	protein_coding	8/8	3747/6292	1004/3417	335/1138			chr16	TogoVar
NPIPB13_chr16_30217897_30253479	30225498	C C	CGCTGAGG others(17): Show CGCTGAGGGTGGAGCTGAGGGTGGA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02717.hp2 NA19240.hp2 HG02717.hp2 NA19240.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0055 a0006c0010t0001g0066 a0006c0010t0001g0055 a0006c0010t0001g0066	2	145	0.0138	24	c.947 others(31): Show c.947_948insTCCACCCTCAGCTCCACCCTCAGC	p.Ala others(37): Show p.Ala316_Asp317insProProSerAlaProProSerAla	NPIPB13	ENSG00000198064.15	transcript	ENST00000697092.1	protein_coding	8/8	3690/6292	947/3417	316/1138			chr16	TogoVar
NPIPB15_chr16_74371306_74397115	74377848	C C	CCTCCCCT others(17): Show CCTCCCCTCCCCCTCCCCCTCCCCT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0047 a0004c0004t0003g0047	1	261	0.0038	24	c.-22 others(39): Show c.-22-104_-22-103insCTCCCCTCCCCCTCCCCCTCCCCT		NPIPB15	ENSG00000196436.9	transcript	ENST00000692376.1	protein_coding	1/7						chr16	TogoVar
NPIPB4_chr16_21829582_21862756	21850259	C C	CTAAATAA others(17): Show CTAAATAAATAAATAAATAAATAAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0030 a0030	a0030c0029 a0030c0029	a0030c0029t0001 a0030c0029t0001	a0030c0029t0001g0196 a0030c0029t0001g0196	1	204	0.0049	24	c.121 others(41): Show c.121-2719_121-2718insTTTATTTATTTATTTATTTATTTA		NPIPB4	ENSG00000185864.19	transcript	ENST00000682606.1	protein_coding	2/7						chr16	TogoVar
NPIPB4_chr16_21829582_21862756	21850260	A A	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01255.hp1 HG01346.hp1 others(3): Show HG00741.hp1 HG01255.hp1 HG01346.hp1 HG01934.hp2 HG02027.hp2 HG02451.hp1	a0004 a0031 a0075 a0004 a0031 a0075	a0004c0004 a0031c0071 a0075c0077 a0004c0004 a0031c0071 a0075c0077	a0004c0004t0001 a0031c0071t0001 a0075c0077t0001 a0004c0004t0001 a0031c0071t0001 a0075c0077t0001	a0004c0004t0001g0129 a0004c0004t0001g0149 a0004c0004t0001g0166 others(3): Show a0004c0004t0001g0129 a0004c0004t0001g0149 a0004c0004t0001g0166 a0004c0004t0001g0167 a0031c0071t0001g0188 a0075c0077t0001g0017	6	204	0.0294	24	c.121 others(41): Show c.121-2720_121-2719insATTTATTTATTTATTTATTTATTT		NPIPB4	ENSG00000185864.19	transcript	ENST00000682606.1	protein_coding	2/7						chr16	TogoVar
NPIPB5_chr16_22505891_22541535	22533975	T T	TTCCACCC others(17): Show TTCCACCCTCAGCTCTACCCTCAGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19043.hp2 NA19043.hp2	a0025 a0025	a0025c0025 a0025c0025	a0025c0025t0004 a0025c0025t0004	a0025c0025t0004g0042 a0025c0025t0004g0042	1	47	0.0213	24	c.100 others(33): Show c.1004_1005insTCTACCCTCAGCTCCACCCTCAGC	p.Ala others(37): Show p.Ala335_Asp336insLeuProSerAlaProProSerAla	NPIPB5	ENSG00000243716.12	transcript	ENST00000424340.7	protein_coding	7/7	3916/6463	1005/3402	335/1133		INFO_REALIGN_3_PRIME	chr16	TogoVar
NPIPB8_chr16_28633065_28663744	28646202	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01993.hp2 HG01255.hp2 HG01993.hp2	a0002 a0006 a0002 a0006	a0002c0003 a0006c0005 a0002c0003 a0006c0005	a0002c0003t0002 a0006c0005t0002 a0002c0003t0002 a0006c0005t0002	a0002c0003t0002g0286 a0006c0005t0002g0293 a0002c0003t0002g0286 a0006c0005t0002g0293	2	351	0.0057	24	c.121 others(41): Show c.121-1930_121-1907dupTTTTTTTTTTTTTTTTTTTTTTTT		NPIPB8	ENSG00000255524.8	transcript	ENST00000683297.1	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr16	TogoVar
NPIPB8_chr16_28633065_28663744	28662527	T T	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01261.hp2 HG01433.hp2 others(2): Show HG01074.hp2 HG01261.hp2 HG01433.hp2 HG03130.hp1 HG03927.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0004 a0002c0002t0002g0160 a0002c0002t0002g0168 others(2): Show a0001c0001t0001g0004 a0002c0002t0002g0160 a0002c0002t0002g0168 a0002c0002t0002g0182 a0002c0002t0002g0186	5	351	0.0143	24	c.38 others(35): Show c.3897_*3898insTGTGTGTGTGTGTGTGTGTGTGTG		NPIPB8	ENSG00000255524.8	transcript	ENST00000683297.1	protein_coding					3784		chr16	TogoVar
NPLOC4_chr17_81551887_81642112	81564083	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02965.hp2 HG02630.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0103 a0001c0005t0101 a0001c0001t0103 a0001c0005t0101	a0001c0001t0103g0247 a0001c0005t0101g0259 a0001c0001t0103g0247 a0001c0005t0101g0259	2	344	0.0058	24	c.166 others(43): Show c.1669+1398_1669+1421dupGTGTGTGTGTGTGTGTGTGTGTGT		NPLOC4	ENSG00000182446.15	transcript	ENST00000331134.11	protein_coding	16/16						chr17	TogoVar
NPLOC4_chr17_81551887_81642112	81564105	C C	CACACACA others(17): Show CACACACACACACACACACACACAG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01069.hp2 HG01071.hp1 others(2): Show HG00609.hp1 HG01069.hp2 HG01071.hp1 HG02135.hp2 HG02698.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0009 a0001c0004t0023 others(1): Show a0001c0004t0001 a0001c0004t0009 a0001c0004t0023 a0001c0004t0040	a0001c0004t0001g0225 a0001c0004t0009g0228 a0001c0004t0023g0229 others(2): Show a0001c0004t0001g0225 a0001c0004t0009g0228 a0001c0004t0023g0229 a0001c0004t0040g0218 a0001c0004t0040g0219	5	344	0.0145	24	c.166 others(43): Show c.1669+1399_1669+1400insCTGTGTGTGTGTGTGTGTGTGTGT		NPLOC4	ENSG00000182446.15	transcript	ENST00000331134.11	protein_coding	16/16						chr17	TogoVar
NPLOC4_chr17_81551887_81642112	81564109	C C	CACACACA others(17): Show CACACACACACACACACACACACAG	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA18522.hp1 HG02809.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0067 a0001c0001t0022 a0001c0001t0067	a0001c0001t0022g0251 a0001c0001t0067g0207 a0001c0001t0022g0251 a0001c0001t0067g0207	2	344	0.0058	24	c.166 others(43): Show c.1669+1395_1669+1396insCTGTGTGTGTGTGTGTGTGTGTGT		NPLOC4	ENSG00000182446.15	transcript	ENST00000331134.11	protein_coding	16/16						chr17	TogoVar
NPLOC4_chr17_81551887_81642112	81637875	A A	AATTTTTT others(17): Show AATTTTTTTTTTATTTTATTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	344	0.0029	24	c.-94 others(33): Show c.-946_-945insAAAAAAATAAAATAAAAAAAAAAT		NPLOC4	ENSG00000182446.15	transcript	ENST00000331134.11	protein_coding					764		chr17	TogoVar
NPPB_chr1_11852464_11863945	11860155	G G	GGAAAGAA others(17): Show GGAAAGAAAGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02723.hp2 HG02922.hp1 others(7): Show HG01884.hp2 HG02723.hp2 HG02922.hp1 HG03239.hp1 HG03471.hp2 HG03654.hp2 HG03688.hp2 HG03831.hp2 HG04184.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0006	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0005g0005 others(1): Show a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0005g0005 a0001c0002t0006g0009	10	410	0.0244	24	c.-13 others(35): Show c.-1323_-1322insTTTCTTTCTTTCTTTCTTTCTTTC		NPPB	ENSG00000120937.9	transcript	ENST00000376468.4	protein_coding					1211		chr1	TogoVar
NPPB_chr1_11852464_11863945	11860155	G G	GGAAAGAA others(17): Show GGAAAGAAAGAAAGTAAGAAAGTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 NA18967.hp2 NA21309.hp1 HG00099.hp1 NA18967.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	3	410	0.0073	24	c.-13 others(35): Show c.-1323_-1322insTTACTTTCTTACTTTCTTTCTTTC		NPPB	ENSG00000120937.9	transcript	ENST00000376468.4	protein_coding					1211		chr1	TogoVar
NPRL3_chr16_80386_143673	103296	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA20752.hp2 HG02280.hp2 NA20752.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0004c0006t0002 a0001c0001t0001 a0004c0006t0002	a0001c0001t0001g0114 a0004c0006t0002g0333 a0001c0001t0001g0114 a0004c0006t0002g0333	2	350	0.0057	24	c.630 others(41): Show c.630-2811_630-2788dupAAAAAAAAAAAAAAAAAAAAAAAA		NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding	7/13						chr16	TogoVar
NPSR1_chr7_34653218_34854978	34663041	T T	TTCTCTCT others(17): Show TTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02683.hp1 HG02976.hp2 HG01099.hp1 HG02683.hp1 HG02976.hp2	a0002 a0005 a0002 a0005	a0002c0001 a0005c0004 a0002c0001 a0005c0004	a0002c0001t0003 a0005c0004t0003 a0002c0001t0003 a0005c0004t0003	a0002c0001t0003g0193 a0005c0004t0003g0192 a0005c0004t0003g0194 a0002c0001t0003g0193 a0005c0004t0003g0192 a0005c0004t0003g0194	3	260	0.0115	24	c.147 others(41): Show c.147+4486_147+4509dupCTCTCTCTCTCTCTCTCTCTCTCT		NPSR1	ENSG00000187258.14	transcript	ENST00000360581.6	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr7	TogoVar
NPSR1_chr7_34653218_34854978	34663067	C C	CTCTCTCT others(17): Show CTCTCTCTCTCTCTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02683.hp2 HG02965.hp1 others(6): Show HG02615.hp2 HG02683.hp2 HG02965.hp1 HG03486.hp1 HG03490.hp2 HG04184.hp2 NA18959.hp2 NA18986.hp1 NA18999.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0009	a0001c0002 a0002c0001 a0003c0005 others(2): Show a0001c0002 a0002c0001 a0003c0005 a0007c0023 a0009c0013	a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 others(5): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0002c0001t0002 a0002c0001t0003 a0003c0005t0011 a0007c0023t0003 a0009c0013t0002	a0001c0002t0002g0248 a0001c0002t0003g0238 a0001c0002t0007g0236 others(6): Show a0001c0002t0002g0248 a0001c0002t0003g0238 a0001c0002t0007g0236 a0001c0002t0007g0239 a0002c0001t0002g0181 a0002c0001t0003g0240 a0003c0005t0011g0237 a0007c0023t0003g0256 a0009c0013t0002g0241	9	260	0.0346	24	c.147 others(41): Show c.147+4509_147+4510insCTCTCTCTCTCTGTGTGTGTGTGT		NPSR1	ENSG00000187258.14	transcript	ENST00000360581.6	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr7	TogoVar
NPSR1_chr7_34653218_34854978	34790842	T T	TATGTTAT others(17): Show TATGTTATATGTTATATTATATATC	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0156 a0003c0007t0002g0156	1	260	0.0039	24	c.384 others(43): Show c.384+12279_384+12280insGTTATATGTTATATTATATATCAT		NPSR1	ENSG00000187258.14	transcript	ENST00000360581.6	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr7	TogoVar
NPSR1_chr7_34653218_34854978	34792665	T T	TTATATAT others(17): Show TTATATATATGTATATATATATTTA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01517.hp1 HG03831.hp2 HG00280.hp1 HG01517.hp1 HG03831.hp2	a0001 a0003 a0001 a0003	a0001c0008 a0003c0007 a0001c0008 a0003c0007	a0001c0008t0003 a0003c0007t0005 a0001c0008t0003 a0003c0007t0005	a0001c0008t0003g0159 a0003c0007t0005g0140 a0003c0007t0005g0141 a0001c0008t0003g0159 a0003c0007t0005g0140 a0003c0007t0005g0141	3	260	0.0115	24	c.384 others(43): Show c.384+14121_384+14122insTTATATATATATGTATATATATAT		NPSR1	ENSG00000187258.14	transcript	ENST00000360581.6	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr7	TogoVar
NPTN_chr15_73555014_73638389	73636112	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	342	0.0029	24	c.-28 others(35): Show c.-2898_-2897insAAAAAAAAAAAAAAAAAAAAAAAA		NPTN	ENSG00000156642.17	transcript	ENST00000345330.9	protein_coding					2724		chr15	TogoVar
NPTX1_chr17_80461834_80481607	80466061	A A	AGTGTGTG others(17): Show AGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0068 a0001c0001t0047g0068	1	440	0.0023	24	c.47 others(35): Show c.4751_*4752insACACACACACACACACACACACAC		NPTX1	ENSG00000171246.7	transcript	ENST00000306773.5	protein_coding					772		chr17	TogoVar
NPTXR_chr22_38813452_38849028	38813950	C C	CTTCTCTT others(17): Show CTTCTCTTCTCTTCTCTTCTCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0105 a0001c0002t0004g0105	1	354	0.0028	24	c.86 others(35): Show c.8658_*8659insAGAAGAGAAGAGAAGAGAAGAGAA		NPTXR	ENSG00000221890.6	transcript	ENST00000333039.4	protein_coding					4501		chr22	TogoVar
NPY4R2_chr10_47913662_47928524	47918383	G G	GAGAAAGA others(17): Show GAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 NA18947.hp1 NA19000.hp1 others(1): Show HG00323.hp2 NA18947.hp1 NA19000.hp1 NA19055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0012 a0001c0002t0002g0002 a0001c0002t0002g0012	4	276	0.0145	24	c.-77 others(33): Show c.-775_-774insAGAAAGAAAGAAAGAAAGAAAGAA		NPY4R2	ENSG00000264717.6	transcript	ENST00000576178.7	protein_coding					278		chr10	TogoVar
NPY4R2_chr10_47913662_47928524	47918433	G G	GAAAGAAA others(17): Show GAAAGAAAGAAGAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0029 a0001c0003t0001g0029	1	276	0.0036	24	c.-72 others(33): Show c.-725_-724insAAAGAAAGAAGAAGAAAGAAAGAA		NPY4R2	ENSG00000264717.6	transcript	ENST00000576178.7	protein_coding					228		chr10	TogoVar
NPY_chr7_24279190_24296862	24290775	A A	AATAATAA others(17): Show AATAATAATTATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA18906.hp2 HG02970.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0051 a0001c0002t0001g0051	2	476	0.0042	24	c.270 others(39): Show c.270-886_270-885insAATAATTATTATTATTATTATTAT		NPY	ENSG00000122585.8	transcript	ENST00000242152.7	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
NPY_chr7_24279190_24296862	24290775	A A	AATAATTA others(17): Show AATAATTATTATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02132.hp2 NA18951.hp1 HG02129.hp1 HG02132.hp2 NA18951.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0054 a0001c0002t0001g0120 a0001c0002t0001g0054 a0001c0002t0001g0120	3	476	0.0063	24	c.270 others(39): Show c.270-886_270-885insAATTATTATTATTATTATTATTAT		NPY	ENSG00000122585.8	transcript	ENST00000242152.7	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr7	TogoVar

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