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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NDUFA10_chr2_239952372_240030342	240004591	C C	CCCATTCC others(27): Show CCCATTCCGCCATGGCCTCCTCTCCTAGTCCTGCT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02615.hp1 HG02258.hp2 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0054 a0001c0001t0025g0055 a0001c0001t0025g0054 a0001c0001t0025g0055	2	407	0.0049	34	c.890 others(49): Show c.890+585_890+618dupAGCAGGACTAGGAGAGGAGGCCATGGCGGA ATGG	NDUFA10	ENSG00000130414.13	transcript	ENST00000252711.7	protein_coding	8/9			chr2	TogoVar
NDUFA11_chr19_5889675_5908790	5907610	T T	TAAAAAAA others(27): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	50	0.0200	34	c.-39 others(45): Show c.-3903_-3902insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NDUFA11	ENSG00000174886.14	transcript	ENST00000308961.5	protein_coding		3821		chr19	TogoVar
NDUFAB1_chr16_23576014_23601316	23584255	T T	TAAAAAAA others(27): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02630.hp1 HG01928.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0232 a0001c0001t0001g0124 a0001c0001t0001g0232	2	24	0.0833	34	c.379 others(51): Show c.379+1080_379+1081insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	NDUFAB1	ENSG00000004779.10	transcript	ENST00000007516.8	protein_coding	3/4			chr16	TogoVar
NDUFAF2_chr5_60940205_61158026	61136005	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01952.hp1 HG02273.hp2 others(8): Show HG01167.hp1 HG01952.hp1 HG02273.hp2 HG02451.hp2 HG02523.hp2 HG02723.hp1 HG02922.hp1 NA18953.hp1 NA19043.hp2 NA19060.hp2 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0036 others(8): Show a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0087 a0001c0001t0001g0241 a0001c0001t0001g0248 a0001c0002t0001g0159 a0001c0002t0001g0161 a0001c0002t0001g0172 a0001c0002t0001g0181	11	34	0.3235	34	c.259 others(53): Show c.259-16695_259-16662dupATATATATATATATATATATATATAT ATATATAT	NDUFAF2	ENSG00000164182.12	transcript	ENST00000296597.10	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
NDUFB5_chr3_179599794_179632647	179624572	T T	TACACACA others(27): Show TACACACACACACACACACACACACACACACACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03540.hp2 NA18980.hp1 HG03540.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0062 a0001c0001t0053 a0001c0001t0062	a0001c0001t0053g0019 a0001c0001t0062g0013 a0001c0001t0053g0019 a0001c0001t0062g0013	2	52	0.0385	34	c.56 others(43): Show c.564_*565insACACACACACACACACACACACACACACACACAC	NDUFB5	ENSG00000136521.13	transcript	ENST00000259037.8	protein_coding	6/6	565	INFO_REALIGN_3_PRIME	chr3	TogoVar
NDUFB5_chr3_179599794_179632647	179624572	T T	TATACACA others(27): Show TATACACACACACACACACACACACACACACACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0103 a0001c0002t0103	a0001c0002t0103g0115 a0001c0002t0103g0115	1	51	0.0196	34	c.53 others(43): Show c.533_*534insTACACACACACACACACACACACACACACACACA	NDUFB5	ENSG00000136521.13	transcript	ENST00000259037.8	protein_coding	6/6	534	INFO_REALIGN_3_PRIME	chr3	TogoVar
NDUFC2_chr11_78063297_78084862	78078728	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp2 others(29): Show HG00099.hp1 HG00280.hp1 HG00323.hp2 HG00558.hp2 HG00733.hp2 HG00735.hp1 HG01081.hp2 HG01261.hp1 HG01934.hp2 HG01978.hp1 HG01993.hp1 HG02056.hp2 HG02109.hp1 HG02135.hp2 HG02165.hp1 HG02273.hp1 HG02523.hp1 HG03490.hp1 HG03492.hp1 HG03710.hp1 HG04199.hp1 NA18947.hp1 NA18948.hp1 NA18951.hp2 NA18977.hp1 NA18984.hp1 NA18994.hp2 NA19003.hp2 NA19005.hp2 NA19010.hp2 NA19043.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0004 a0001c0001t0001g0040 a0001c0001t0001g0108 others(9): Show a0001c0001t0001g0004 a0001c0001t0001g0040 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0003g0018 a0001c0001t0003g0039 a0001c0001t0003g0115	32	121	0.2645	34	c.166 others(49): Show c.166+850_166+851insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	NDUFC2	ENSG00000151366.13	transcript	ENST00000281031.5	protein_coding	1/2			chr11	TogoVar
NDUFS5_chr1_39021350_39039615	39024930	A A	ATATATAT others(27): Show ATATATATATATATATTTATATATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	430	0.0023	34	c.-14 others(45): Show c.-1475_-1474insTATATATATATATATTTATATATATATATATATT	NDUFS5	ENSG00000168653.11	transcript	ENST00000372969.8	protein_coding		1419		chr1	TogoVar
NDUFS5_chr1_39021350_39039615	39024932	A A	ATATATAT others(27): Show ATATATATATATATATTTATATATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	432	0.0023	34	c.-14 others(45): Show c.-1473_-1472insTATATATATATATATTTATATATATATATATATT	NDUFS5	ENSG00000168653.11	transcript	ENST00000372969.8	protein_coding		1417		chr1	TogoVar
NECAB1_chr8_90786775_90964393	90917870	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG02074.hp1 others(2): Show HG00099.hp1 HG00423.hp2 HG02074.hp1 HG03669.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0017 a0001c0001t0002g0059 a0001c0001t0002g0089 others(2): Show a0001c0001t0002g0017 a0001c0001t0002g0059 a0001c0001t0002g0089 a0001c0001t0002g0119 a0001c0001t0007g0115	5	110	0.0455	34	c.494 others(49): Show c.494+243_494+244insATATATATATATATATATATATATATATGT GTGT	NECAB1	ENSG00000123119.12	transcript	ENST00000417640.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
NEDD1_chr12_96902257_96958780	96932455	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0138 a0001c0001t0018g0138	1	391	0.0026	34	c.490 others(51): Show c.490-2520_490-2519insTATATATATATATATATATATATATATA TATATA	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD1_chr12_96902257_96958780	96932459	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	309	0.0032	34	c.490 others(51): Show c.490-2516_490-2515insTATATATATATATATATATATATATATA TATATA	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD1_chr12_96902257_96958780	96932463	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	26	0.0385	34	c.490 others(51): Show c.490-2512_490-2511insAAAAAAAAAAAAAAAATATATATATATA TATATA	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD1_chr12_96902257_96958780	96932463	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18946.hp2 NA18957.hp1 others(1): Show HG00621.hp1 NA18946.hp2 NA18957.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 a0001c0001t0001 a0001c0001t0003 a0001c0001t0016	a0001c0001t0001g0270 a0001c0001t0003g0159 a0001c0001t0003g0172 others(1): Show a0001c0001t0001g0270 a0001c0001t0003g0159 a0001c0001t0003g0172 a0001c0001t0016g0067	4	29	0.1379	34	c.490 others(51): Show c.490-2512_490-2511insAAAAAAAAAAAATATATATATATATATA TATATA	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD1_chr12_96902257_96958780	96932463	A A	AAAAAAAA others(27): Show AAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 NA18959.hp2 NA18969.hp1 others(3): Show HG01358.hp1 NA18959.hp2 NA18969.hp1 NA19054.hp2 NA19074.hp2 NA19075.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0002c0003t0003	a0001c0001t0001g0259 a0001c0001t0003g0014 a0001c0001t0003g0171 others(3): Show a0001c0001t0001g0259 a0001c0001t0003g0014 a0001c0001t0003g0171 a0001c0001t0004g0019 a0001c0001t0004g0066 a0002c0003t0003g0180	6	31	0.1935	34	c.490 others(51): Show c.490-2512_490-2511insAAAAAAAAAATATATATATATATATATA TATATA	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD1_chr12_96902257_96958780	96932463	A A	AAAAAAAA others(27): Show AAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02015.hp1 HG03654.hp1 others(4): Show HG01243.hp2 HG02015.hp1 HG03654.hp1 NA18612.hp2 NA18947.hp1 NA18984.hp1 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008	a0001c0001t0001g0202 a0001c0001t0001g0267 a0001c0001t0002g0153 others(4): Show a0001c0001t0001g0202 a0001c0001t0001g0267 a0001c0001t0002g0153 a0001c0001t0003g0169 a0001c0001t0004g0008 a0001c0001t0004g0064 a0001c0001t0008g0222	7	32	0.2188	34	c.490 others(51): Show c.490-2512_490-2511insAAAAAAAATATATATATATATATATATA TATATA	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD1_chr12_96902257_96958780	96932463	A A	AAAAAAAA others(27): Show AAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA18975.hp1 NA19089.hp2 HG02486.hp1 NA18975.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0226 a0001c0001t0001g0317 a0001c0001t0004g0055 a0001c0001t0001g0226 a0001c0001t0001g0317 a0001c0001t0004g0055	3	28	0.1071	34	c.490 others(51): Show c.490-2512_490-2511insAAAAAATATATATATATATATATATATA TATATA	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD4_chr15_55821922_55998612	55940518	T T	TTCTCTCT others(27): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02080.hp2 HG02148.hp2 others(6): Show HG01884.hp1 HG02080.hp2 HG02148.hp2 HG03098.hp2 NA18940.hp1 NA18945.hp1 NA18983.hp2 NA19005.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0007 a0002c0002 a0002c0007	a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 others(2): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0011 a0002c0007t0003	a0002c0002t0002g0034 a0002c0002t0003g0021 a0002c0002t0003g0022 others(6): Show a0002c0002t0002g0034 a0002c0002t0003g0021 a0002c0002t0003g0022 a0002c0002t0003g0038 a0002c0002t0003g0148 a0002c0002t0003g0181 a0002c0002t0007g0289 a0002c0002t0011g0068 a0002c0007t0003g0326	9	250	0.0360	34	c.237 others(53): Show c.237+10857_237+10858insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGA	NEDD4	ENSG00000069869.17	transcript	ENST00000435532.8	protein_coding	4/28			chr15	TogoVar
NEGR1_chr1_71390943_72287539	71597472	C C	CTCTCTCT others(27): Show CTCTCTCTCTCTCTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0032 a0001c0001t0021g0032	1	10	0.1000	34	c.789 others(51): Show c.789-4505_789-4504insCACACACACACACACACACACAGAGAGA GAGAGA	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	5/6			chr1	TogoVar
NEGR1_chr1_71390943_72287539	71675112	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0001 a0001c0001t0019g0001	1	47	0.0213	34	c.667 others(53): Show c.667+22895_667+22896insATATATATATATATATATATATATAT ATATATAT	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	4/6			chr1	TogoVar
NEGR1_chr1_71390943_72287539	71675126	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	22	0.0455	34	c.667 others(53): Show c.667+22881_667+22882insGTGTATATATATATATATATATATAT ATATATAT	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	4/6			chr1	TogoVar
NEGR1_chr1_71390943_72287539	71744284	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0041 a0001c0001t0003g0041	1	43	0.0233	34	c.535 others(53): Show c.535+31887_535+31888insATATATATATATATATATATATATAT ATATATAT	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	3/6			chr1	TogoVar
NEGR1_chr1_71390943_72287539	71928441	T T	TATATGTA others(27): Show TATATGTATATATACACACATATGTATATATACAC	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA20300.hp2 HG03041.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0009 a0001c0002t0001 a0001c0002t0009	a0001c0002t0001g0053 a0001c0002t0009g0005 a0001c0002t0001g0053 a0001c0002t0009g0005	2	60	0.0333	34	c.409 others(51): Show c.409+6637_409+6638insGTGTATATATACATATGTGTGTATATAT ACATAT	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	2/6			chr1	TogoVar
NEIL3_chr4_177304874_177367936	177348858	A A	ATTTTTTT others(27): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0019 a0002c0002t0001g0019	1	141	0.0071	34	c.870 others(51): Show c.870-2495_870-2494insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	NEIL3	ENSG00000109674.4	transcript	ENST00000264596.4	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
NEK10_chr3_27101484_27374383	27331262	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA19012.hp1 NA18968.hp2 NA19012.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0119 a0001c0002t0014g0128 a0001c0002t0014g0119 a0001c0002t0014g0128	2	163	0.0123	34	c.363 others(51): Show c.363-9002_363-9001insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	NEK10	ENSG00000163491.18	transcript	ENST00000691995.1	protein_coding	5/35			chr3	TogoVar
NEK11_chr3_131021877_131355465	131115944	T T	TTCTTTCT others(27): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0249 a0002c0002t0001g0249	1	282	0.0035	34	c.455 others(51): Show c.455+6025_455+6058dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCT	NEK11	ENSG00000114670.14	transcript	ENST00000383366.9	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
NEK11_chr3_131021877_131355465	131115948	T T	TTCTTTCT others(27): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0262 a0003c0003t0001g0262	1	281	0.0036	34	c.455 others(51): Show c.455+6029_455+6062dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCT	NEK11	ENSG00000114670.14	transcript	ENST00000383366.9	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
NEK11_chr3_131021877_131355465	131115952	T T	TTCTTTCT others(27): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0268 a0003c0003t0001g0268	1	281	0.0036	34	c.455 others(51): Show c.455+6033_455+6066dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCT	NEK11	ENSG00000114670.14	transcript	ENST00000383366.9	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
NEK11_chr3_131021877_131355465	131115956	T T	TTCTTTCT others(27): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0195 a0003c0004t0001g0195	1	285	0.0035	34	c.455 others(51): Show c.455+6068_455+6069insCTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT	NEK11	ENSG00000114670.14	transcript	ENST00000383366.9	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
NEK11_chr3_131021877_131355465	131115962	C C	CTTTCTTT others(27): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0287 a0003c0004t0001g0287	1	276	0.0036	34	c.455 others(51): Show c.455+6068_455+6069insCTTTCTTTTTCTTTCTTTCTTTCTTTCT TTCTTT	NEK11	ENSG00000114670.14	transcript	ENST00000383366.9	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
NEK11_chr3_131021877_131355465	131282705	A A	AATATCTT others(27): Show AATATCTTGACAGGAAGATCTAAACAGAACATGAG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01891.hp1 HG02451.hp2 others(11): Show HG01255.hp1 HG01891.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02622.hp1 HG02970.hp2 HG02976.hp1 HG03139.hp1 HG03209.hp2 HG03225.hp2 HG06807.hp1 NA18522.hp2	a0002 a0006 a0009 others(1): Show a0002 a0006 a0009 a0012	a0002c0002 a0002c0005 a0006c0009 others(2): Show a0002c0002 a0002c0005 a0006c0009 a0009c0014 a0012c0015	a0002c0002t0001 a0002c0002t0002 a0002c0005t0001 others(3): Show a0002c0002t0001 a0002c0002t0002 a0002c0005t0001 a0006c0009t0001 a0009c0014t0002 a0012c0015t0001	a0002c0002t0001g0051 a0002c0002t0001g0085 a0002c0002t0001g0086 others(11): Show a0002c0002t0001g0051 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0152 a0002c0002t0002g0094 a0002c0002t0002g0266 a0002c0005t0001g0162 a0002c0005t0001g0163 a0006c0009t0001g0166 a0009c0014t0002g0095 a0012c0015t0001g0207	14	290	0.0483	34	c.171 others(53): Show c.1718+9133_1718+9166dupTATCTTGACAGGAAGATCTAAACAGA ACATGAGA	NEK11	ENSG00000114670.14	transcript	ENST00000383366.9	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
NEK1_chr4_169387809_169617583	169445865	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	183	0.0055	34	c.258 others(53): Show c.2588-7607_2588-7606insGTATATATATATATATATATATATAT ATATATAT	NEK1	ENSG00000137601.18	transcript	ENST00000507142.6	protein_coding	27/35			chr4	TogoVar
NELL1_chr11_20664586_21580686	20721181	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	15	0.0667	34	c.184 others(53): Show c.184+43137_184+43138insTATATATATATATATATATATATATA TATATATA	NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NELL1_chr11_20664586_21580686	21336674	T T	TATATATA others(27): Show TATATATATATATATATATACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0080 a0001c0004t0001g0080	1	19	0.0526	34	c.155 others(55): Show c.1550-34178_1550-34177insTATATATATATATATATACACACA CACACACACA	NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	14/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NELL2_chr12_44503278_44881315	44503806	T T	TATATATA others(27): Show TATATATATATATGCATATATATATATATATATGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp1 HG02897.hp1 HG01071.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0121 a0001c0001t0005g0034 a0001c0001t0001g0121 a0001c0001t0005g0034	2	156	0.0128	34	c.51 others(45): Show c.5127_*5128insGCATATATATATATATATATGCATATATATATAT	NELL2	ENSG00000184613.11	transcript	ENST00000429094.7	protein_coding		4471		chr12	TogoVar
NELL2_chr12_44503278_44881315	44644623	T T	TATATATA others(27): Show TATATATACATACATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0079 a0001c0001t0010g0079	1	129	0.0078	34	c.144 others(55): Show c.1444+20860_1444+20861insGTATATATATATATATATATATGT ATGTATATAT	NELL2	ENSG00000184613.11	transcript	ENST00000429094.7	protein_coding	13/19			chr12	TogoVar
NEMF_chr14_49777083_49857788	49804575	A A	AGAATTGC others(27): Show AGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	220	0.0045	34	c.185 others(53): Show c.1858-1315_1858-1282dupACTGCAACCTCTGCCTCCTGGGTTCA AGCAATTC	NEMF	ENSG00000165525.18	transcript	ENST00000298310.10	protein_coding	19/32			chr14	TogoVar
NEMF_chr14_49777083_49857788	49806232	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0219 a0002c0003t0004g0219	1	137	0.0073	34	c.174 others(50): Show c.1745-100_1745-99insTATATATATATATATATATATATATATAT ATATA	NEMF	ENSG00000165525.18	transcript	ENST00000298310.10	protein_coding	18/32			chr14	TogoVar
NEO1_chr15_73047463_73310205	73257132	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0217 a0001c0007t0004g0217	1	4	0.2500	34	c.209 others(53): Show c.2093-1613_2093-1612insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	NEO1	ENSG00000067141.17	transcript	ENST00000261908.11	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr15	TogoVar
NEO1_chr15_73047463_73310205	73279351	G G	GTTTTTTT others(27): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0081 a0002c0006t0003g0081	1	98	0.0102	34	c.326 others(53): Show c.3262+1167_3262+1168insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	NEO1	ENSG00000067141.17	transcript	ENST00000261908.11	protein_coding	22/28		INFO_REALIGN_3_PRIME	chr15	TogoVar
NEO1_chr15_73047463_73310205	73295125	A A	AAAATATA others(27): Show AAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0203 a0001c0010t0002g0203	1	194	0.0052	34	c.390 others(53): Show c.3901+1578_3901+1579insAATATATATATATATATATATATATA TATATATA	NEO1	ENSG00000067141.17	transcript	ENST00000261908.11	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr15	TogoVar
NEO1_chr15_73047463_73310205	73295125	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0197 a0001c0001t0002g0197	1	194	0.0052	34	c.390 others(53): Show c.3901+1595_3901+1596insATATATATATATATATATATATATAT ATATATAT	NEO1	ENSG00000067141.17	transcript	ENST00000261908.11	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr15	TogoVar
NETO2_chr16_47072703_47148945	47115701	A A	ATATATAT others(27): Show ATATATATATATACATATATATATATATATACATG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0050 a0001c0001t0010g0050	1	166	0.0060	34	c.655 others(51): Show c.655-6024_655-5991dupCATGTATATATATATATATATGTATATA TATATA	NETO2	ENSG00000171208.10	transcript	ENST00000562435.6	protein_coding	6/8			chr16	TogoVar
NETO2_chr16_47072703_47148945	47115714	C C	CATATATA others(27): Show CATATATATATATATATATATATATGTATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0018 a0002c0002t0006g0018	1	155	0.0065	34	c.655 others(51): Show c.655-6004_655-6003insATATATATACATATATATATATATATAT ATATAT	NETO2	ENSG00000171208.10	transcript	ENST00000562435.6	protein_coding	6/8			chr16	TogoVar
NEU4_chr2_241804193_241822413	241805443	T T	TCCCTCCC others(27): Show TCCCTCCCCCTCAACCCAGGAACCTCCGCAGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	316	0.0032	34	c.-38 others(45): Show c.-3835_-3834insCCCTCCCCCTCAACCCAGGAACCTCCGCAGGCCA	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3749		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805938	T T	TCCCTCCC others(27): Show TCCCTCCCCCTCAGCCCAGGAACCTCCGCAGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0088 a0001c0002t0001g0088	1	318	0.0031	34	c.-33 others(45): Show c.-3340_-3339insCCCTCCCCCTCAGCCCAGGAACCTCCGCAGGCCA	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3254		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807607	T T	TCCCTCCC others(27): Show TCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0036 a0002c0003t0002g0036	1	307	0.0033	34	c.-16 others(45): Show c.-1671_-1670insCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCA	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1585		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807610	C C	CTCCCCCT others(27): Show CTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0062 a0001c0004t0001g0062	1	315	0.0032	34	c.-16 others(45): Show c.-1668_-1667insTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1582		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807616	C C	CCTCAGCC others(27): Show CCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0143 a0002c0003t0002g0143	1	315	0.0032	34	c.-16 others(45): Show c.-1662_-1661insCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1576		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807650	T T	TCCCTCCC others(27): Show TCCCTCCCCCTCAGCCCAGGGACCTCTGCAGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0036 a0002c0003t0002g0036	1	299	0.0033	34	c.-16 others(45): Show c.-1628_-1627insCCCTCCCCCTCAGCCCAGGGACCTCTGCAGGCCA	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1542		chr2	TogoVar

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