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
NDUFA11_chr19_5889675_5908790	5907610	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01168.hp2 HG02818.hp2 others(7): Show HG01106.hp1 HG01168.hp2 HG02818.hp2 HG03239.hp2 HG03704.hp1 NA18966.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0012 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0031 a0001c0001t0001g0042 a0001c0001t0001g0071 a0001c0001t0001g0111 a0001c0001t0001g0120 a0001c0003t0001g0080	10	59	0.1695	27	c.-39 others(38): Show c.-3903_-3902insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NDUFA11	ENSG00000174886.14	transcript	ENST00000308961.5	protein_coding		3821		chr19	TogoVar
NDUFA3_chr19_54097855_54112568	54099229	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	120	0.0083	27	c.-36 others(38): Show c.-3650_-3649insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NDUFA3	ENSG00000170906.16	transcript	ENST00000485876.6	protein_coding		3625		chr19	TogoVar
NDUFAB1_chr16_23576014_23601316	23584255	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp2 HG01243.hp1 others(10): Show HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01256.hp2 HG01346.hp2 HG01496.hp2 HG02738.hp1 HG02976.hp2 HG03453.hp2 HG03942.hp1 NA18985.hp1 NA18997.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0137 others(8): Show a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0157 a0001c0001t0001g0174 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0228 a0001c0001t0001g0234	13	35	0.3714	27	c.379 others(44): Show c.379+1080_379+1081insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NDUFAB1	ENSG00000004779.10	transcript	ENST00000007516.8	protein_coding	3/4			chr16	TogoVar
NDUFAB1_chr16_23576014_23601316	23584265	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19079.hp2 NA19078.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	2	356	0.0056	27	c.379 others(44): Show c.379+1070_379+1071insCTTTTTTTTTTTTTTTTTTTTTTTTTT	NDUFAB1	ENSG00000004779.10	transcript	ENST00000007516.8	protein_coding	3/4			chr16	TogoVar
NDUFS1_chr2_206109817_206164444	206122629	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0034 a0001c0005t0034	a0001c0005t0034g0028 a0001c0005t0034g0028	1	172	0.0058	27	c.15 others(38): Show c.1555_*1556insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NDUFS1	ENSG00000023228.15	transcript	ENST00000233190.11	protein_coding	19/19	1555		chr2	TogoVar
NDUFS1_chr2_206109817_206164444	206140930	A A	ATATATAT others(20): Show ATATATATATATACACACACATATACAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp1 HG03098.hp2 HG02109.hp1 HG02258.hp1 HG03098.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0022 a0001c0005t0034 a0001c0005t0022 a0001c0005t0034	a0001c0005t0022g0029 a0001c0005t0022g0030 a0001c0005t0034g0028 a0001c0005t0022g0029 a0001c0005t0022g0030 a0001c0005t0034g0028	3	327	0.0092	27	c.126 others(46): Show c.1262+1010_1262+1011insGTGTATATGTGTGTGTATATATATAT A	NDUFS1	ENSG00000023228.15	transcript	ENST00000233190.11	protein_coding	12/18			chr2	TogoVar
NDUFS5_chr1_39021350_39039615	39039002	A A	AATGAATA others(20): Show AATGAATAATTTACTACCTAGGCTTAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	436	0.0023	27	c.45 others(38): Show c.4506_*4507insATGAATAATTTACTACCTAGGCTTAAC	NDUFS5	ENSG00000168653.11	transcript	ENST00000372969.8	protein_coding		4388		chr1	TogoVar
NDUFS7_chr19_1378907_1400584	1394531	C C	CGGACCGC others(20): Show CGGACCGCGCTCCTCCCTCCCTGGCTGG	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	318	0.0031	27	c.545 others(42): Show c.545-837_545-836insCTGGGGACCGCGCTCCTCCCTCCCTGG	NDUFS7	ENSG00000115286.21	transcript	ENST00000233627.14	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
NDUFV3_chr21_42888309_42918299	42894401	T T	TTTATATA others(20): Show TTTATATAATATATAATATATTATATAA	intron_variant intron_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0085 a0001c0001t0085	a0001c0001t0085g0121 a0001c0001t0085g0121	1	202	0.0050	27	c.48+ others(42): Show c.48+1021_48+1047dupTTATATAATATATAATATATTATATAA	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
NECAB1_chr8_90786775_90964393	90879062	T T	TTATATAT others(20): Show TTATATATAATATATATTATATATATTA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02976.hp2 others(1): Show HG01884.hp2 HG02055.hp2 HG02976.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0016 a0001c0001t0006 a0001c0001t0016	a0001c0001t0006g0144 a0001c0001t0016g0141 a0001c0001t0016g0142 others(1): Show a0001c0001t0006g0144 a0001c0001t0016g0141 a0001c0001t0016g0142 a0001c0001t0016g0143	4	246	0.0163	27	c.260 others(44): Show c.260-1957_260-1931dupTATTATATATATTATATATATAATATA	NECAB1	ENSG00000123119.12	transcript	ENST00000417640.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
NECAB1_chr8_90786775_90964393	90922486	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG03669.hp1 HG03704.hp1 HG01070.hp2 HG03669.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0089 a0001c0001t0002g0119 a0001c0001t0007g0029 a0001c0001t0002g0089 a0001c0001t0002g0119 a0001c0001t0007g0029	3	11	0.2727	27	c.495 others(44): Show c.495-3025_495-3024insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NECAB1	ENSG00000123119.12	transcript	ENST00000417640.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
NECAB1_chr8_90786775_90964393	90947297	A A	AACTAAAA others(20): Show AACTAAAAACATACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0113 a0001c0001t0027g0113	1	244	0.0041	27	c.861 others(44): Show c.861-2508_861-2507insTAAAAACATACACACACACACACACAC	NECAB1	ENSG00000123119.12	transcript	ENST00000417640.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
NEDD1_chr12_96902257_96958780	96932457	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	333	0.0030	27	c.490 others(44): Show c.490-2519_490-2518insTATATATATATATATATATATATATAT	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15			chr12	TogoVar
NEDD1_chr12_96902257_96958780	96932463	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	26	0.0385	27	c.490 others(44): Show c.490-2512_490-2511insAAAAAAAAAAAAAAATATATATATATA	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(20): Show AAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG03516.hp1 HG01257.hp1 HG01258.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0033 a0001c0001t0006g0046 a0001c0001t0001g0033 a0001c0001t0006g0046	3	28	0.1071	27	c.490 others(44): Show c.490-2512_490-2511insAAAAAAAAAAAAATATATATATATATA	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(20): Show AAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02896.hp2 NA18944.hp2 others(1): Show HG00609.hp1 HG02896.hp2 NA18944.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0001 a0001c0001t0004 a0001c0001t0007	a0001c0001t0001g0166 a0001c0001t0001g0203 a0001c0001t0004g0069 others(1): Show a0001c0001t0001g0166 a0001c0001t0001g0203 a0001c0001t0004g0069 a0001c0001t0007g0312	4	29	0.1379	27	c.490 others(44): Show c.490-2512_490-2511insAAAAAAAAATATATATATATATATATA	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(20): Show AAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0313 a0001c0001t0007g0313	1	26	0.0385	27	c.490 others(44): Show c.490-2512_490-2511insAAAAAAATATATATATATATATATATA	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEGR1_chr1_71390943_72287539	71942483	A A	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	45	0.0222	27	c.177 others(44): Show c.177-7173_177-7172insAAAAAAAAATATATATATATATATATA	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	1/6			chr1	TogoVar
NEK10_chr3_27101484_27374383	27331262	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0125 a0001c0002t0013g0125	1	162	0.0062	27	c.363 others(44): Show c.363-9002_363-9001insGTTTTTTTTTTTTTTTTTTTTTTTTTT	NEK10	ENSG00000163491.18	transcript	ENST00000691995.1	protein_coding	5/35			chr3	TogoVar
NEK11_chr3_131021877_131355465	131127753	C C	CTTTTCTC others(20): Show CTTTTCTCTGGAAAGGATTTATATTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00597.hp1 others(54): Show HG00140.hp1 HG00280.hp1 HG00597.hp1 HG00609.hp2 HG00639.hp1 HG00733.hp1 HG00735.hp1 HG00741.hp1 HG01069.hp1 HG01099.hp2 HG01109.hp1 HG01175.hp2 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG01517.hp1 HG02027.hp2 HG02055.hp2 HG02129.hp2 HG02148.hp1 HG02155.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02698.hp1 HG02723.hp1 HG02735.hp2 HG02976.hp2 HG03139.hp1 HG03239.hp1 HG03491.hp2 HG03516.hp2 HG03579.hp2 HG03669.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18952.hp1 NA18960.hp2 NA18973.hp1 NA18990.hp2 NA18991.hp2 NA19000.hp2 NA19004.hp2 NA19011.hp2 NA19030.hp1 NA19056.hp2 NA19058.hp2 NA19062.hp2 NA19066.hp1 NA19074.hp1 NA19240.hp2 NA20752.hp2 NA20805.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0001 a0002c0002 a0002c0019 others(4): Show a0001c0001 a0002c0002 a0002c0019 a0003c0003 a0003c0004 a0003c0011 a0010c0012	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(5): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0019t0001 a0003c0003t0001 a0003c0004t0001 a0003c0011t0001 a0010c0012t0003	a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0251 others(54): Show a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0251 a0001c0001t0001g0255 a0001c0001t0001g0282 a0001c0001t0001g0283 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0252 a0002c0002t0001g0254 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0002g0266 a0002c0019t0001g0253 a0003c0003t0001g0194 a0003c0003t0001g0196 a0003c0003t0001g0197 a0003c0003t0001g0204 a0003c0003t0001g0205 a0003c0003t0001g0242 a0003c0003t0001g0243 a0003c0003t0001g0245 a0003c0003t0001g0259 a0003c0003t0001g0260 a0003c0003t0001g0261 a0003c0003t0001g0262 a0003c0003t0001g0265 a0003c0003t0001g0267 a0003c0003t0001g0268 a0003c0003t0001g0269 a0003c0003t0001g0270 a0003c0003t0001g0273 a0003c0004t0001g0195 a0003c0004t0001g0258 a0003c0004t0001g0274 a0003c0004t0001g0276 a0003c0004t0001g0277 a0003c0004t0001g0278 a0003c0004t0001g0279 a0003c0004t0001g0280 a0003c0004t0001g0281 a0003c0004t0001g0284 a0003c0004t0001g0285 a0003c0004t0001g0286 a0003c0004t0001g0287 a0003c0004t0001g0289 a0003c0004t0001g0290 a0003c0004t0001g0291 a0003c0004t0001g0292 a0003c0011t0001g0271 a0010c0012t0003g0272	57	290	0.1966	27	c.456 others(44): Show c.456-4983_456-4982insGAAAGGATTTATATTTTTTTTTCTCTG	NEK11	ENSG00000114670.14	transcript	ENST00000383366.9	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
NELL1_chr11_20664586_21580686	20915717	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0079 a0001c0008t0001g0079	1	43	0.0233	27	c.604 others(44): Show c.604-2464_604-2463insATATATATATATATATATATATATTTT	NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NELL1_chr11_20664586_21580686	20915717	A A	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	43	0.0233	27	c.604 others(44): Show c.604-2464_604-2463insATATATATATATATATATATTTTTTTT	NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NELL1_chr11_20664586_21580686	20915717	A A	ATATATAT others(20): Show ATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0009 a0009	a0009c0017 a0009c0017	a0009c0017t0005 a0009c0017t0005	a0009c0017t0005g0027 a0009c0017t0005g0027	1	43	0.0233	27	c.604 others(44): Show c.604-2464_604-2463insATATATATATATATATTTTTTTTTTTT	NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NELL1_chr11_20664586_21580686	21228717	C C	CCCTCCCC others(20): Show CCCTCCCCTCCCTCCCCTCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0049 a0001c0004t0001g0049	1	84	0.0119	27	c.142 others(44): Show c.1427-614_1427-613insCTCCCCTCCCTCCCCTCCCCTCCCCTC	NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NELL2_chr12_44503278_44881315	44587284	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0091 a0001c0001t0003g0091	1	79	0.0127	27	c.166 others(48): Show c.1663+19884_1663+19885insATATATATATATATTTTTTTTTTT TTT	NELL2	ENSG00000184613.11	transcript	ENST00000429094.7	protein_coding	15/19			chr12	TogoVar
NEMF_chr14_49777083_49857788	49806257	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	113	0.0088	27	c.174 others(44): Show c.1745-125_1745-124insTATATATATATATATATATATATATAT	NEMF	ENSG00000165525.18	transcript	ENST00000298310.10	protein_coding	18/32			chr14	TogoVar
NEO1_chr15_73047463_73310205	73257132	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA19088.hp2 HG02080.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0229 a0001c0001t0003g0246 a0001c0001t0003g0229 a0001c0001t0003g0246	2	5	0.4000	27	c.209 others(46): Show c.2093-1613_2093-1612insAAAAAAAAAAAAAAAAAAAAAAAAAA A	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(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0003 a0001c0021t0003	a0001c0021t0003g0044 a0001c0021t0003g0044	1	98	0.0102	27	c.326 others(46): Show c.3262+1167_3262+1168insTTTTTTTTTTTTTTTTTTTTTTTTTT T	NEO1	ENSG00000067141.17	transcript	ENST00000261908.11	protein_coding	22/28		INFO_REALIGN_3_PRIME	chr15	TogoVar
NEURL1B_chr5_172636263_172696540	172663054	A A	AAATAATA others(20): Show AAATAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02273.hp2 HG02559.hp1 others(13): Show HG01255.hp1 HG02273.hp2 HG02559.hp1 HG02683.hp1 HG02717.hp2 HG02723.hp1 HG03225.hp1 HG03453.hp1 NA18939.hp2 NA18957.hp1 NA18975.hp2 NA19030.hp2 NA19063.hp1 NA19067.hp1 NA19090.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0003 a0001c0001 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 a0001c0001t0034 a0001c0005t0001 a0002c0003t0006	a0001c0001t0001g0065 a0001c0001t0001g0222 a0001c0001t0003g0346 others(13): Show a0001c0001t0001g0065 a0001c0001t0001g0222 a0001c0001t0003g0346 a0001c0001t0013g0066 a0001c0001t0034g0259 a0001c0005t0001g0326 a0001c0005t0001g0327 a0001c0005t0001g0328 a0001c0005t0001g0329 a0002c0003t0006g0137 a0002c0003t0006g0330 a0002c0003t0006g0331 a0002c0003t0006g0332 a0002c0003t0006g0333 a0002c0003t0006g0334 a0002c0003t0006g0335	16	305	0.0525	27	c.32- others(42): Show c.32-6718_32-6717insATAATAATAATAATAATAATAATAATA	NEURL1B	ENSG00000214357.9	transcript	ENST00000369800.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
NEURL1B_chr5_172636263_172696540	172663829	T T	TTTTTTAT others(20): Show TTTTTTATTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02293.hp1 HG02293.hp2 others(8): Show HG01106.hp1 HG02293.hp1 HG02293.hp2 HG03239.hp2 HG03654.hp1 HG03927.hp1 NA18941.hp2 NA18967.hp2 NA18977.hp2 NA18980.hp1 NA19010.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0024 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0024 a0001c0001t0028 a0001c0002t0004 a0002c0003t0002	a0001c0001t0002g0176 a0001c0001t0002g0224 a0001c0001t0003g0271 others(8): Show a0001c0001t0002g0176 a0001c0001t0002g0224 a0001c0001t0003g0271 a0001c0001t0024g0296 a0001c0001t0028g0038 a0001c0002t0004g0134 a0001c0002t0004g0157 a0001c0002t0004g0162 a0002c0003t0002g0141 a0002c0003t0002g0185 a0002c0003t0002g0216	11	168	0.0655	27	c.32- others(42): Show c.32-5954_32-5953insTTTATTATTATTATTATTATTATTATT	NEURL1B	ENSG00000214357.9	transcript	ENST00000369800.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
NEURL1B_chr5_172636263_172696540	172663829	T T	TTTTTTTT others(20): Show TTTTTTTTTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01081.hp1 HG01168.hp1 others(27): Show HG01071.hp2 HG01081.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01934.hp2 HG01975.hp2 HG01981.hp2 HG02055.hp1 HG02083.hp2 HG02683.hp2 HG03486.hp2 HG03540.hp1 HG03669.hp1 HG03831.hp2 HG04228.hp1 NA18747.hp2 NA18944.hp1 NA18950.hp1 NA18953.hp2 NA18982.hp2 NA18983.hp1 NA18990.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0003c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0016 a0001c0001t0024 a0001c0001t0041 a0001c0002t0004 a0001c0004t0009 a0001c0004t0022 a0002c0003t0006 a0003c0010t0003	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0316 others(27): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0316 a0001c0001t0001g0360 a0001c0001t0002g0223 a0001c0001t0003g0140 a0001c0001t0003g0272 a0001c0001t0003g0289 a0001c0001t0003g0293 a0001c0001t0003g0303 a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0307 a0001c0001t0003g0322 a0001c0001t0003g0344 a0001c0001t0003g0345 a0001c0001t0010g0247 a0001c0001t0010g0282 a0001c0001t0010g0300 a0001c0001t0010g0321 a0001c0001t0010g0348 a0001c0001t0016g0288 a0001c0001t0024g0297 a0001c0001t0041g0274 a0001c0002t0004g0171 a0001c0004t0009g0323 a0001c0004t0022g0264 a0002c0003t0006g0273 a0003c0010t0003g0276	30	187	0.1604	27	c.32- others(42): Show c.32-5954_32-5953insTTTTTTATTATTATTATTATTATTATT	NEURL1B	ENSG00000214357.9	transcript	ENST00000369800.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
NEURL1B_chr5_172636263_172696540	172663829	T T	TTTTTTTT others(20): Show TTTTTTTTTTTTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0022 a0001c0004t0022	a0001c0004t0022g0263 a0001c0004t0022g0263	1	158	0.0063	27	c.32- others(42): Show c.32-5954_32-5953insTTTTTTTTTATTATTATTATTATTATT	NEURL1B	ENSG00000214357.9	transcript	ENST00000369800.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
NEURL1B_chr5_172636263_172696540	172667275	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0258 a0001c0001t0039g0258	1	80	0.0125	27	c.32- others(42): Show c.32-2489_32-2488insAAAAAAAAAAAAAAAAAAAAAAAAAAA	NEURL1B	ENSG00000214357.9	transcript	ENST00000369800.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
NEURL1B_chr5_172636263_172696540	172681546	C C	CAAAGCAG others(20): Show CAAAGCAGACACACTCAGATGCCCAGAG	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	390	0.0026	27	c.578 others(44): Show c.578-1873_578-1872insAAAGCAGACACACTCAGATGCCCAGAG	NEURL1B	ENSG00000214357.9	transcript	ENST00000369800.6	protein_coding	2/4			chr5	TogoVar
NEURL1_chr10_103488705_103597546	103501618	T T	TTTATTAT others(20): Show TTTATTATTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	35	0.0286	27	c.85+ others(42): Show c.85+7149_85+7175dupATTATTATTATTATTATTATTATTATT	NEURL1	ENSG00000107954.11	transcript	ENST00000369780.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr10	TogoVar
NEURL3_chr2_96492646_96510357	96504877	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	82	0.0122	27	c.28+ others(40): Show c.28+381_28+382insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NEURL3	ENSG00000163121.10	transcript	ENST00000451794.6	protein_coding	1/3			chr2	TogoVar
NEUROG3_chr10_69566698_69578422	69575806	C C	CTCTTCTT others(20): Show CTCTTCTTCTTCTTCTTCTTCTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	442	0.0023	27	c.-25 others(38): Show c.-2599_-2598insAGAAGAAGAAGAAGAAGAAGAAGAAGA	NEUROG3	ENSG00000122859.5	transcript	ENST00000242462.5	protein_coding		2385		chr10	TogoVar
NFASC_chr1_204823652_205027822	204877068	T T	TTATATAT others(20): Show TTATATATATATAATATATTTATTTATA	intron_variant intron_variant	MODIFIER	HG01175.hp2 NA20129.hp2 HG01175.hp2 NA20129.hp2	a0003 a0007 a0003 a0007	a0003c0024 a0007c0031 a0003c0024 a0007c0031	a0003c0024t0003 a0007c0031t0001 a0003c0024t0003 a0007c0031t0001	a0003c0024t0003g0129 a0007c0031t0001g0203 a0003c0024t0003g0129 a0007c0031t0001g0203	2	205	0.0098	27	c.-19 others(48): Show c.-199-43560_-199-43534dupATATATATAATATATTTATTTATA TAT	NFASC	ENSG00000163531.17	transcript	ENST00000339876.11	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFASC_chr1_204865862_205027822	204877068	T T	TTATATAT others(20): Show TTATATATATATAATATATTTATTTATA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02809.hp2 NA20129.hp2 HG01175.hp1 HG02809.hp2 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0001c0014 a0004c0019 a0001c0002 a0001c0014 a0004c0019	a0001c0002t0003 a0001c0014t0004 a0004c0019t0001 a0001c0002t0003 a0001c0014t0004 a0004c0019t0001	a0001c0002t0003g0227 a0001c0014t0004g0228 a0004c0019t0001g0229 a0001c0002t0003g0227 a0001c0014t0004g0228 a0004c0019t0001g0229	3	243	0.0123	27	c.-91 others(44): Show c.-91+6002_-91+6028dupATATATATAATATATTTATTTATATAT	NFASC	ENSG00000163531.17	transcript	ENST00000539706.6	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFATC2_chr20_51381963_51547719	51540647	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0210 a0001c0001t0018g0210	1	114	0.0088	27	c.130 others(44): Show c.130+1722_130+1723insAAAAAAAAAAAAAAAAAAAAAAAAAAA	NFATC2	ENSG00000101096.20	transcript	ENST00000371564.8	protein_coding	1/10			chr20	TogoVar
NFATC3_chr16_68080370_68234259	68192230	A A	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0011 a0003c0003t0011	a0003c0003t0011g0181 a0003c0003t0011g0181	1	42	0.0238	27	c.310 others(44): Show c.3106+456_3106+457insAAAAATATATATATATATATATATATA	NFATC3	ENSG00000072736.19	transcript	ENST00000346183.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
NFIC_chr19_3361583_3474217	3371998	C C	CCTCCTCT others(20): Show CCTCCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0216 a0001c0001t0216	a0001c0001t0216g0193 a0001c0001t0216g0193	1	31	0.0323	27	c.30+ others(42): Show c.30+5335_30+5336insCTCTCTCTCTCTCTCTCTCTCTCTCTC	NFIC	ENSG00000141905.19	transcript	ENST00000443272.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFU1_chr2_69391126_69442435	69424198	A A	AAAAATAT others(20): Show AAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	277	0.0036	27	c.167 others(42): Show c.167-482_167-481insATATATATATATATATATATATATTTT	NFU1	ENSG00000169599.13	transcript	ENST00000410022.7	protein_coding	2/7			chr2	TogoVar
NGB_chr14_77260483_77276206	77269727	T T	TCCCTCCC others(20): Show TCCCTCCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	285	0.0035	27	c.90- others(40): Show c.90-402_90-401insGGGAGGGAGGGAGGGAGGGAGGGAGGG	NGB	ENSG00000165553.5	transcript	ENST00000298352.5	protein_coding	1/3			chr14	TogoVar
NGB_chr14_77260483_77276206	77269727	T T	TCTCCCCC others(20): Show TCTCCCCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	285	0.0035	27	c.90- others(40): Show c.90-402_90-401insGGGAGGGAGGGAGGGAGGGAGGGGGAG	NGB	ENSG00000165553.5	transcript	ENST00000298352.5	protein_coding	1/3			chr14	TogoVar
NGB_chr14_77260483_77276206	77269727	T T	TCTCTCCC others(20): Show TCTCTCCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	285	0.0035	27	c.90- others(40): Show c.90-402_90-401insGGGAGGGAGGGAGGGAGGGAGGGAGAG	NGB	ENSG00000165553.5	transcript	ENST00000298352.5	protein_coding	1/3			chr14	TogoVar
NGEF_chr2_232873701_233018256	232993152	C C	CAAATATA others(20): Show CAAATATATATATATTATATATATAAAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	360	0.0028	27	c.-74 others(46): Show c.-74-18215_-74-18189dupATTTATATATATAATATATATATATT T	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232995146	A A	ACTGTATA others(20): Show ACTGTATATATATGTACAGTATGTATAC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0027 a0001c0003t0027	a0001c0003t0027g0140 a0001c0003t0027g0140	1	196	0.0051	27	c.-75 others(46): Show c.-75+17921_-75+17922insGTATACATACTGTACATATATATACA G	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NHSL2_chrX_71905845_72158286	72048987	G G	GAGAAGAA others(20): Show GAGAAGAAGAAGAAGAAGAAGAAGAAGA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19074.hp2 NA19088.hp1 NA19043.hp1 NA19074.hp2 NA19088.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0003 a0003c0004 a0005c0005 a0001c0003 a0003c0004 a0005c0005	a0001c0003t0013 a0003c0004t0011 a0005c0005t0063 a0001c0003t0013 a0003c0004t0011 a0005c0005t0063	a0001c0003t0013g0140 a0003c0004t0011g0067 a0005c0005t0063g0068 a0001c0003t0013g0140 a0003c0004t0011g0067 a0005c0005t0063g0068	3	156	0.0192	27	c.281 others(46): Show c.281-83091_281-83065dupAGAAGAAGAAGAAGAAGAAGAAGAAG A	NHSL2	ENSG00000204131.11	transcript	ENST00000633930.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
NHSL2_chrX_71905845_72158286	72049009	A A	AGAAGAAG others(20): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02647.hp1 HG02818.hp2 others(1): Show HG02109.hp1 HG02647.hp1 HG02818.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0015 a0001c0003t0008 others(1): Show a0001c0001t0001 a0001c0001t0015 a0001c0003t0008 a0001c0003t0027	a0001c0001t0001g0052 a0001c0001t0015g0049 a0001c0003t0008g0135 others(1): Show a0001c0001t0001g0052 a0001c0001t0015g0049 a0001c0003t0008g0135 a0001c0003t0027g0124	4	46	0.0870	27	c.281 others(46): Show c.281-83065_281-83064insAGAAGAAGAAGAAGAAGAAGAGGAAG A	NHSL2	ENSG00000204131.11	transcript	ENST00000633930.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar

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